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Familial progressive hyperpigmentation | Familial progressive hyperpigmentation is characterized by patches of hyperpigmentation, present at birth, which increase in size and number with age. This is a genetic disease, however the gene that accounts for this spotty darkening of the skin has yet to be discovered. Although rare, the congenital disease is most prevalent among populations originating from China.: 858
See also
Skin lesion
References
The American Journal of Human Genetics 84, 672–677, May 15, 2009
== External links == |
Carditis | Carditis (pl. carditides) is the inflammation of the heart.It is usually studied and treated by specifying it as:
Pericarditis is the inflammation of the pericardium
Myocarditis is the inflammation of the heart muscle
Endocarditis is the inflammation of the endocardium
Pancarditis, also called perimyoendocarditis, is the inflammation of the entire heart: the pericardium, the myocardium and the endocardium
Reflux carditis refers to a possible outcome of esophageal reflux (also known as GERD), and involves inflammation of the esophagus/stomach mucosa
== References == |
Mast cell activation syndrome | Mast cell activation syndrome (MCAS) is a type of mast cell activation disorder (MCAD), and is an immunological condition in which mast cells inappropriately and excessively release chemical mediators, resulting in a range of chronic symptoms, sometimes including anaphylaxis or near-anaphylaxis attacks. Primary symptoms include cardiovascular, dermatological, gastrointestinal, neurological and respiratory problems.Multiple diagnostic schemes for MCAS have been proposed, and the condition is increasingly over-diagnosed or misdiagnosed.
Signs and symptoms
MCAS is a condition that affects multiple systems, generally in an inflammatory manner. Symptoms typically wax and wane over time, varying in severity and duration. Many signs and symptoms are the same as those for mastocytosis, because both conditions result in too many mediators released by mast cells. It has many overlapping characteristics with recurrent idiopathic anaphylaxis, although there are distinguishing symptoms, specifically hives and angioedema.Common symptoms include:
Dermatological
flushing
hives
easy bruising
either a reddish or a pale complexion
itchiness
burning feeling
dermatographism
Cardiovascular
lightheadedness, dizziness, presyncope, syncope, arrhythmia, tachycardia
Gastrointestinal
diarrhea and/or constipation, cramping, intestinal discomfort
nausea, vomiting, acid reflux
swallowing difficulty, throat tightness
Respiratory
congestion, coughing, wheezing
Anaphylaxis If too many mediators are released into a patients system, they may also experience anaphylaxis, which primarily includes: difficulty breathing, itchy hives, flushing or pale skin, feeling of warmth, weak and rapid pulse, nausea, vomiting, diarrhea, dizziness and fainting.
Causes
There are no known causes, but the condition appears to be inherited in some patients. Symptoms of MCAS are caused by excessive chemical mediators inappropriately released by mast cells. Mediators include leukotrienes, histamines, prostaglandin, and tryptase. The condition may be mild until exacerbated by stressful life events, or symptoms may develop and slowly trend worse with time.
Pathophysiology
Mast cell activation can be localized or systemic. MCAS can present with a wide range of symptoms in multiple body systems, these symptoms may range from digestive discomfort to chronic pain, mental issues as well as an anaphylactic reaction. Some examples of tissue specific consequences of mast cell activation include urticaria, allergic rhinitis, and wheezing. Systemic mast cell activation presents with symptoms involving two or more organ systems (skin: urticaria, angioedema, and flushing; gastrointestinal: nausea, vomiting, diarrhea, and abdominal cramping; cardiovascular: hypotensive syncope or near syncope and tachycardia; respiratory: wheezing; naso-ocular: conjunctival injection, pruritus, and nasal stuffiness). This can result from the release of mediators from a specific site, such as the skin or mucosal tissue, or activation of mast cells around the vasculature.
Diagnosis
MCAS is often difficult to identify due to the heterogeneity of symptoms and the "lack of flagrant acute presentation". Many of the numerous symptoms are non-specific in nature. Mast cell activation was assigned an ICD-10 code (D89.40, along with subtype codes D89.41-43 and D89.49) in October 2016.
Although different diagnostic criteria are published, a commonly used strategy to diagnose patients is to use all three of the following:
Symptoms consistent with chronic/recurrent mast cell release: Recurrent abdominal pain, diarrhea, flushing, itching, nasal congestion, coughing, chest tightness, wheezing, lightheadedness (usually a combination of some of these symptoms is present)
Laboratory evidence of mast cell mediator (elevated serum tryptase, N-methyl histamine, prostaglandin D2 or 11-beta- prostaglandin F2 alpha, leukotriene E4 and others)
Improvement in symptoms with the use of medications that block or treat elevations in these mediators"The World Health Organization has not published diagnostic criteria.
Treatment
Common pharmacological treatments include:
Mast cell stabilizers, including cromolyn sodium and natural stabilizers such as quercetin
H1-antihistamines, such as cetirizine or ketotifen or fexofenadine or loratadine
H2-antihistamines, such as ranitidine or famotidine
Antileukotrienes, such as montelukast or zileuton as well as natural products (e.g., curcumin or St. Johns wort extracts)
Nonsteroidal anti-inflammatory drugs, including aspirin can be very helpful in reducing inflammation in some patients, while others can have dangerous reactions
Prognosis
The prognosis of MCAS is uncertain because of lack of studies.
History
The condition was hypothesized by the pharmacologists John Oates and Jack Roberts of Vanderbilt University in 1991, and following a build-up of evidence featured in papers by Sonneck et al. and Akin et al., named in 2007.Diagnostic criteria were proposed in 2010 and revised in 2019.
See also
FcεRI
Histamine intolerance
Immunoglobulin E
References
== External links == |
Sperm granuloma | A sperm granuloma is a lump of leaked sperm that appears along the vasa deferentia or epididymides in vasectomized individuals. While majority of sperm granulomas are present along the vas deferens, the rest of them form at the epididymis. Sperm granulomas range in size, from one millimeter to one centimeter. They consist of a central mass of degenerating sperm surrounded by tissue containing blood vessels and immune system cells. Sperm granulomas may also have a yellow, white, or cream colored center when cut open. While some sperm granulomas can be painful, most of them are painless and asymptomatic. Sperm granulomas can appear as a result of surgery (such as a vasectomy), trauma, or an infection (such as sexually transmitted diseases). They can appear as early as four days after surgery and fully formed ones can appear as late as 208 days later.Sperm granulomas are a common complication of different types of vasectomy. In vasectomies, the vas deferens are cut and the two ends are tied to prevent sperm from passing. Sperm granuloma may then form at the point where the vas deferens were cut, due to the possibility of sperm leaking out at this site. History of trauma or inflammation of the epididymis can also lead to a sperm granuloma. Sperm granulomas are seen as the bodys immune response to sperm being outside of their normal location, and are therefore seen as a protective mechanism.
Sperm granulomas are quite common after surgery, occurring in up to 40% of patients. On the contrary, sperm granulomas comprise only 2.5% of the general population. Amongst adolescents and pediatric patients, sperm granulomas are considered a rare phenomenon as this population does not undergo vasectomy often. The most common cause of sperm granuloma in pediatric and adolescent patients is often attributed to tumor obstruction, injury, or infection to the area.While sperm granuloma is considered a complication in most cases, it allows decompression of the vas deferens and epididymis at the vasectomy site. This allows for successful future reversal of vasectomy given the good quality sperm in the vas fluid. Any surgery in the genital area can lead to castration anxiety (fear of loss or damage to the genital organ.)
Diagnosis
Sperm granulomas are diagnosed using a microscope to examine tissues (histology) taken from the area, typically done with fine needle aspiration and occur within a few weeks of a vasectomy. An example of a histology based diagnosis supporting sperm granuloma would be a sperm core surrounded by inflammatory cells, apoptotic cells, and fibrous tissue. Often, there will be empty tubes with cellular debris near the granuloma. Additionally, physicians might use high frequency ultrasounds to aid in properly diagnosing epididymal conditions such as sperm granulomas. Using these ultrasounds provide a better view of the anatomy of the epididymis, which could prevent misdiagnosis of conditions such as testicular tumors or supernumerary testis (the presence of more than two testes).
Signs and symptoms
Sperm granulomas appear as hard and firm nodules that do not exceed 1 cm in size. Sperm granulomas form in 20-50% of vasectomy procedures. An injury to the epididymal epithelium is caused by penetration of germ cells into the epididymal supportive tissue. This infiltration of germ cells allows for the pathogenesis of sperm granulomas. Moreover, the penetration of germ cells leads to inflammatory and autoimmune reactions that further increase the risk of sperm granuloma formation.Sperm granuloma can also mimic the presence of an abnormal number of testis on ultrasound.Sperm granulomas are mostly asymptomatic. However, they can cause pain and swelling of the epididymis, spermatic cord, and testis. The pain usually radiates to the groin, the junctional area between the abdominal wall and the thigh, and can imitate the feeling of kidney spasms.
Development of a Sperm Granuloma
Sperm granuloma is a common complication of vasectomy. Vasectomies are a common, effective procedure for sterilization of individuals assigned male at birth. History of trauma or epididymitis can also lead to sperm granuloma. In vasectomies, the vas deferens are cut and the two ends are tied to prevent sperm from passing. Sperm granuloma may then grow at the point where the vas deferens were cut. This could happen two to three weeks post procedure. Sperm granuloma can also form from sperm leaking from the vas deferens into the surrounding interstitium. Leakage of sperm elicits an immune response which can lead to chronic inflammation. A histological examination can confirm a sperm granuloma by checking for inflammatory markers such as macrophages and lymphocytes surrounding the sperm core.
Treatment and prevention
Most sperm granulomas are asymptomatic and absorbed over time. However, in more severe cases, non-steroidal anti-inflammatory drugs (NSAIDs) such as Ibuprofen may be used.
Surgery is very rarely performed. In cases where symptoms do not resolve in a reasonable amount of time and NSAID therapy is ineffective, the provider may choose to surgically resect the area where the pain is localized. Additionally, the stumps of the vas deferens can be burned and closed off in order to reduce the pain the patient is experiencing and prevent it from happening again.When sperm granulomas are occasionally mistaken for other conditions, such as testicular tumors, a more complicated treatment approach such as an orchiectomy may be accidentally used.Cauterization is a vasectomy method used to seal the vas deferens by utilizing heat or electricity to burn the lumen. Using thermal (heat) cautery instead of electrocautery can help prevent granulomas and nodular thickening.Refraining from ejaculation for 1 week can potentially reduce the risk of developing a sperm granuloma.There is also evidence that sperm granuloma formation may be linked to testosterone deficiency. Testosterone supplementation may reduce the inflammation related to sperm granulomas and potentially even prevent them from occurring. However, this evidence is only supported in animal models.
Complications
There have been complications involving sperm granuloma. A pediatric case documented a 13 year old boy who was admitted to the hospital with edema and redness on his left hemiscrotum. Upon a physical examination, they found the scrotum to be enlarged, soft, red and painless. Initial sonographs detected possiblility of inflammation of the testis and epididymis. The patient received anti-inflammatory and antibiotic treatment, and was examined again one week after treatment. The testis were still painless and now hardened. Upon a second reexamination five days later, low perfusion to the testis was detected. This testicular necrosis led the patient into an emergency operation. Histology determined there was a ruptured sperm granuloma that led to the testicular thrombosis and necrosis. Specifically, the walls of the vas deferens contained many growths of small ducts and gland-like structures, which came about as a response to the displacement of the sperm and fluid. The exact cause of his ruptured sperm granuloma was not determined, but it was found to be most likely a secondary response to inflammation and/or trauma.Another complication with Sperm granulomas has been being mistaken for a tumor due to its tumor-like appearance. A 45 year old man presented with right testicular chronic pain. He had a vasectomy 7 years ago. Upon physical examination and an ultrasound, a solid nodule in the right epididymis was found, and medical staff suspected a tumor. After findings of sperm that had undergone phagocytosis, a final diagnosis of sperm granuloma was determined.
Effects on sperm quality and fertility
It is unknown whether sperm granulomas are definitively detrimental to sperm quality and fertility in humans. However, studies in donkeys have shown that sperm quality is only marginally affected. There was a lower percentage of sperm with intact plasma membranes; however, no effects on motility or morphology were observed. In some cases, the presence or absence of sperm granulomas may determine the success rate for vasectomy reversal.
It is believed that sperm granulomas may be protective because they can prevent the obstruction of the testicles and epididymis. Sperm granulomas are believed to reduce the pressure thats generated after vasectomy and prevent blockages of sperm output into the vas fluid during ejaculation. Therefore, there are no changes in the amount of sperm that are produced into the vas fluid.
Sperm granulomas in animals
Additionally, sperm granulomas can exist in non-human species such as rats, dogs, horses, fish, etc. Non-human species exhibit the same causes for sperm granulomas, including infection, injury, and trauma to the epididymal region. For example, vasectomized rats were seen to also have high prevalence of sperm granulomas post-operation while general populations of rats experienced much lower prevalence of sperm granulomas. In the case of sperm granulomas within dogs, their presence is common amongst poorly performed vasectomies. This is consistent with the idea that these lesions form at the site where there is trauma or a chance for the sperm to leak outside of the vasa deferentia or epididymis. In multiple species, sperm granulomas have also been linked to the success rate of certain procedures such as vasectomy reversals, or vasovasostomy. There is also an association between sperm granuloma and antibodies produced against sperm antigens. In a case study on sperm granuloma and antisperm antibody count in donkeys, it was found that sperm granuloma resulted in an increase in IgA- and IgG- bound sperm in donkeys. They also found donkeys with sperm granuloma had a reduction of sperm motility and reduction of percentage of sperm with an intact plasma membrane. But there was no significant damage found in total sperm motility compared to healthy control donkeys. The extent to which sperm granuloma and antisperm antibodies affect donkey fertility is still yet to be determined by further research studies.
Vasectomy
Vasectomy (a birth control for males that cuts the sperm supply to semen) is usually a safe and effective contraception method. It has less than 1% failure rate and more than 95% success rate. Best candidates for vasectomy are older than 30 years individuals assigned male at birth who are in a stable relationship. Vasectomy is best performed when using the no-scalpel method to reduce operative complications. Needles also can be avoided by using a jet injector instead for the local anesthesia, which also reduces the pain that results from needles. Complications of vasectomy depends on the methods and tools used. Complications include short-term complications, such as Infection and bleeding, or long-term complications, such as sperm granuloma and post-vasectomy pain syndrome. Additionally, in order to check sterility post-vasectomy, a semen analysis is performed after 3 months and 20 ejaculations to establish azoospermia (no sperm count in the ejaculate).Vasectomy can also be reversed, which is a more technically challenging procedure than a vasectomy that is performed by less urologists and is a heavier financial burden as it is usually not covered by insurances. Approximately 3-6% of people opt for a reversal due to the death of a child, change in partner, increase in financial abilities, or to find relief from postvasectomy pain syndrome. With advances in medical operations since the 1970s, there has since been increased interest in vasectomy reversals and greater chances of success for patency and pregnancy rates.Vasectomy reversal has a varying success rate. A recent study showed that the most important indicator of pregnancy after vasectomy reversal was the age of the female partner. The two most favorable predictors of success were having a female partner less than 40 years of age and having the reversal performed less than 15 years after vasectomy. Aside from the variation in success, vasectomy reversal also has major economic implications. The cost of a vasectomy reversal can range from $16,000-$30,000 and it is usually an out-of-pocket expense due to lack of insurance coverage.
== References == |
Heat stroke | Heat stroke or heatstroke, also known as sun stroke, is a severe heat illness that results in a body temperature greater than 40.0 °C (104.0 °F), along with red skin, headache, dizziness, and confusion. Sweating is generally present in exertional heatstroke, but not in classic heatstroke. The start of heat stroke can be sudden or gradual. Heatstroke is a life-threatening condition due to the potential for multi-organ dysfunction, with typical complications including seizures, rhabdomyolysis, or kidney failure.Heat stroke occurs because of high external temperatures and/or physical exertion. It usually occurs under preventable prolonged exposure to extreme environmental or exertional heat. However, certain health conditions can increase the risk of heat stroke, and patients, especially children, with certain genetic predispositions are vulnerable to heatstroke under relatively mild conditions.Preventive measures include drinking sufficient fluids and avoiding excessive heat. Treatment is by rapid physical cooling of the body and supportive care. Recommended methods include spraying the person with water and using a fan, putting the person in ice water, or giving cold intravenous fluids. Adding ice packs around a person is reasonable but does not by itself achieve the fastest possible cooling.Heat stroke results in more than 600 deaths a year in the United States. Rates have increased between 1995 and 2015. Purely exercise-induced heat stroke, though a medical emergency, tends to be self-limiting (the patient stops exercising from cramp or exhaustion) and fewer than 5% of cases are fatal. Non-exertional heatstroke is a much greater danger: even the healthiest person, if left in a heatstroke-inducing environment without medical attention, will continue to deteriorate to the point of death, and 65% of the most severe cases are fatal even with treatment.
Signs and symptoms
Heat stroke generally presents with a hyperthermia of greater than 40.6 °C (105.1 °F) in combination with disorientation. However, high body temperature does not necessarily indicate that heat stroke is present, such as with people in high-performance endurance sports or with people experiencing fevers. Exertional heat stroke is more accurately diagnosed based on a constellation of symptoms rather than just a specific temperature threshold. There is generally a lack of sweating in classic heatstroke, while sweating is generally present in exertional heatstroke.Early symptoms of heat stroke include behavioral changes, confusion, delirium, dizziness, weakness, agitation, combativeness, slurred speech, nausea, and vomiting. In some individuals with exertional heatstroke, seizures and sphincter incontinence have also been reported. Additionally, in exertional heat stroke, the affected person may sweat excessively. If treatment is delayed, patients could develop vital organ damage, unconsciousness and even organ failure. In the absence of prompt and adequate treatment, heatstroke can be fatal.
Causes
Heat stroke occurs when thermoregulation is overwhelmed by a combination of excessive metabolic production of heat (exertion), excessive heat in the physical environment, and insufficient or impaired heat loss, resulting in an abnormally high body temperature. Substances that inhibit cooling and cause dehydration such as alcohol, stimulants, medications, and age-related physiological changes predispose to so-called "classic" or non-exertional heat stroke (NEHS), most often in elderly and infirm individuals in summer situations with insufficient ventilation.
Exertional heat stroke
Exertional heat stroke (EHS) can happen in young people without health problems or medications – most often in athletes, outdoor laborers, or military personnel engaged in strenuous hot-weather activity or in first responders wearing heavy personal protective equipment. In environments that are not only hot but also humid, it is important to recognize that humidity reduces the degree to which the body can cool itself by perspiration and evaporation. For humans and other warm-blooded animals, excessive body temperature can disrupt enzymes regulating biochemical reactions that are essential for cellular respiration and the functioning of major organs.
Cars
When the outside temperature is 21 °C (70 °F), the temperature inside a car parked in direct sunlight can quickly exceed 49 °C (120 °F). Young children or elderly adults left alone in a vehicle are at particular risk of succumbing to heat stroke. "Heat stroke in children and in the elderly can occur within minutes, even if a car window is opened slightly." As these groups of individuals may not be able to open car doors or to express discomfort verbally (or audibly, inside a closed car), their plight may not be immediately noticed by others in the vicinity. In 2018, 51 children in the United States died in hot cars, more than the previous high of 49 in 2010.Dogs are even more susceptible than humans to heat stroke in cars, as they cannot produce whole-body sweat to cool themselves. Leaving the dog at home with plenty of water on hot days is recommended instead, or, if a dog must be brought along, it can be tied up in the shade outside the destination and provided with a full water bowl.
Pathophysiology
The pathophysiology of heat stroke involves an intense heat overload followed by a failure of the bodys thermoregulatory mechanisms. More specifically, heat stroke leads to inflammatory and coagulation responses that can damage the vascular endothelium and result in numerous platelet complications, including decreased platelet counts, platelet clumping, and suppressed platelet release from bone marrow.Growing evidence also suggests the existence of a second pathway underlying heat stroke that involves heat and exercise-driven endotoxemia. Although its exact mechanism is not yet fully understood, this model theorizes that extreme exercise and heat disrupt the intestinal barrier by making it more permeable and allowing lipopolysaccharides (LPS) from gram-negative bacteria within the gut to move into the circulatory system. High blood LPS levels can then trigger a systemic inflammatory response and eventually lead to sepsis and related consequences like blood coagulation, multi-organ failure, necrosis, and central nervous system dysfunction.
Diagnosis
In terms of the diagnosis for this condition one sees the following (though this is not a complete list):
CBC
PT/PTT
Blood gases
Urine test
Prevention
The risk of heat stroke can be reduced by observing precautions to avoid overheating and dehydration. Light, loose-fitting clothes will allow perspiration to evaporate and cool the body. Wide-brimmed hats in light colors help prevent the sun from warming the head and neck. Vents on a hat will help cool the head, as will sweatbands wetted with cool water. Strenuous exercise should be avoided during hot weather, especially in the sun peak hours as well as avoiding confined spaces (such as automobiles) without air-conditioning or adequate ventilation.In hot weather, people need to drink plenty of cool liquids and mineral salts to replace fluids lost from sweating. Thirst is not a reliable sign that a person needs fluids. A better indicator is the color of urine. A dark yellow color may indicate dehydration.Example of a checklist designed to help protect workers from heat stress:
Know signs/symptoms of heat-related illnesses.
Block out direct sun and other heat sources.
Drink fluids often, and before you are thirsty.
Wear lightweight, light-colored, loose-fitting clothes.
Avoid beverages containing alcohol or caffeine.
Treatment
Treatment of heat stroke involves rapid mechanical cooling along with standard resuscitation measures.The body temperature must be lowered quickly via conduction, convection, or evaporation. The person should be moved to a cool area, such as indoors or to a shaded area. Clothing should be removed to promote heat loss through passive cooling. Conductive cooling methods such as ice-water immersion should also be used, if possible. Evaporative and convective cooling by a combination of cool water spray or cold compresses with constant air flow over the body, such as with a fan or air-conditioning unit, is also an effective alternative. The person should not be wrapped in wet towels or clothing as this can act as insulation and increase the body temperature.Aggressive ice-water immersion remains the gold standard for life-threatening heat stroke. This method may require the effort of several people and the person should be monitored carefully during the treatment process. Immersion should be avoided for an unconscious person, but if there is no alternative, the persons head must be held above water.
Immersion in very cold water was once thought to be counterproductive by reducing blood flow to the skin and thereby preventing heat from escaping the body core. However, research has shown that this mechanism does not play a dominant role in the decrease in core body temperature brought on by cold water. Dantrolene, a muscle relaxant used to treat other forms of hyperthermia, is not an effective treatment for heat stroke.Hydration is important in cooling the person. In mild cases of concomitant dehydration, this can be achieved by drinking water, or commercial isotonic sports drinks may be used as a substitute. In either exercise- or heat-induced dehydration, electrolyte imbalance can result, and can be worsened by excess consumption of water. Hyponatremia can be corrected by intake of hypertonic fluids. Absorption is rapid and complete in most people but if the person is confused, unconscious, or unable to tolerate oral fluid, then an intravenous drip may be necessary for rehydration and electrolyte replacement.The persons condition should be reassessed and stabilized by trained medical personnel. The persons heart rate and breathing should be monitored, and cardiopulmonary resuscitation (CPR) may be necessary if the person goes into cardiac arrest.
Prognosis
It was long believed that heat strokes lead only rarely to permanent deficits and that convalescence is almost complete. However, following the 1995 Chicago heat wave, researchers from the University of Chicago Medical Center studied all 58 patients with heat stroke severe enough to require intensive care at 12 area hospitals between July 12 and 20, 1995, ranging in age from 25 to 95 years. Nearly half of these patients died within a year – 21 percent before and 28 percent after release from the hospital. Many of the survivors had permanent loss of independent function; one-third had severe functional impairment at discharge, and none of them had improved after one year. The study also recognized that because of overcrowded conditions in all the participating hospitals during the crisis, the immediate care – which is critical – was not as comprehensive as it should have been.In rare cases, brain damage has been reported as a permanent sequela of severe heat stroke, most commonly cerebellar atrophy.
Epidemiology
There are various aspects that can affect the incidence of heat stroke. Including sex, age, geographical location, and even occupation. The incidence of heat stroke is higher among men however, the incidence of other heat illnesses is higher among women. The incidence of other heat illnesses in women compared with men ranged from 1.30 to 2.89 per 1000 person-years versus 0.98 to 1.98 per 1000 person-years.Different parts of the world also have different rates of heat stroke.During the 2022 European heat wave, almost twelve thousand people died from heatstrokes.
Society and culture
In Slavic mythology, there is a personification of sunstroke, Poludnitsa (lady midday), a feminine demon clad in white that causes impairment or death to people working in the fields at midday. There was a traditional short break in harvest work at noon, to avoid attack by the demon. Antonín Dvořáks symphonic poem, The Noon Witch, was inspired by this tradition.
Other animals
Heatstroke can affect livestock, especially in hot, humid weather; or if the horse, cow, sheep or other is unfit, overweight, has a dense coat, is overworked, or is left in a horsebox in full sun. Symptoms include drooling, panting, high temperature, sweating, and rapid pulse.
The animal should be moved to shade, drenched in cold water and offered water or electrolyte to drink.
See also
Hyperthermia
Heat exhaustion
Occupational heat stress
References
External links
Heat stroke on MedicineNet.com |
Nevoid basal-cell carcinoma syndrome | Nevoid basal-cell carcinoma syndrome (NBCCS) is an inherited medical condition involving defects within multiple body systems such as the skin, nervous system, eyes, endocrine system, and bones. People with this syndrome are particularly prone to developing a common and usually non-life-threatening form of non-melanoma skin cancer. About 10% of people with the condition do not develop basal-cell carcinomas (BCCs).
The name Gorlin syndrome refers to the American oral pathologist and human geneticist Robert J. Gorlin (1923–2006). The American dermatologist Robert W. Goltz (1923–2014) was his co-author, which is the basis for the term Gorlin-Goltz syndrome.
First described in 1960 by Gorlin and Goltz, NBCCS is an autosomal dominant condition that can cause unusual facial appearances and a predisposition for basal-cell carcinoma, a type of skin cancer which rarely spreads to other parts of the body. The prevalence is reported to be 1 case per 56,000–164,000 population. Recent work in molecular genetics has shown NBCCS to be caused by mutations in the PTCH (Patched) gene found on chromosome arm 9q. If a child inherits the defective gene from either parent, he or she will have the disorder.
Signs and symptoms
Some or all of the following may be seen in someone with Gorlin syndrome:
Multiple basal-cell carcinomas of the skin
Odontogenic keratocyst: Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 years average).
Rib and vertebrae anomalies
Intracranial calcification
Skeletal abnormalities: bifid ribs, kyphoscoliosis, early calcification of falx cerebri (diagnosed with AP radiograph)
Distinct faces: frontal and temporoparietal bossing, hypertelorism, and mandibular prognathism
Bilateral ovarian fibromas
10% develop cardiac fibromas
Cause
Mutations in the human homologue of Drosophila patched (PTCH1), a tumor suppressor gene on chromosome 9, were identified as the underlying genetic event in this syndrome.
Diagnosis
Diagnosis of NBCCS is made by having two major criteria or one major and two minor criteria. [1]
The major criteria consist of the following:
more than 2 BCCs or 1 BCC in a person younger than 20 years;
odontogenic keratocysts of the jaw
3 or more palmar or plantar pits
ectopic calcification or early (<20 years) calcification of the falx cerebri
bifid, fused, or splayed ribs
first-degree relative with NBCCS.The minor criteria include the following:
macrocephaly.
congenital malformations, such as cleft lip or palate, frontal bossing, eye anomaly (cataract, coloboma, microphthalmia, nystagmus).
other skeletal abnormalities, such as Sprengel deformity, pectus deformity, polydactyly, syndactyly or hypertelorism.
radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
ovarian and cardio fibroma or medulloblastoma (the latter is generally found in children below the age of two).People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. They should reduce UV light exposure, to minimize the risk of BCCs. They should also be advised that receiving Radiation therapy for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition.Genetic counseling is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected.
Treatment
Treatment is usually supportive treatment, that is, treatment to reduce any symptoms rather than to cure the condition.
Enucleation of the odontogenic cysts can help, but new lesions, infections and jaw deformity are usually a result.
The severity of the basal-cell carcinoma determines the prognosis for most patients. BCCs rarely cause gross disfigurement, disability or death [2].
Genetic counseling
Incidence
NBCCS has an incidence of 1 in 50,000 to 150,000 with higher incidence in Australia. One aspect of NBCCS is that basal-cell carcinomas will occur on areas of the body which are not generally exposed to sunlight, such as the palms and soles of the feet and lesions may develop at the base of palmar and plantar pits.
One of the prime features of NBCCS is development of multiple BCCs at an early age, often in the teen years. Each person who has this syndrome is affected to a different degree, some having many more characteristics of the condition than others.
See also
List of cutaneous conditions
List of radiographic findings associated with cutaneous conditions
List of dental abnormalities associated with cutaneous conditions
List of cutaneous conditions associated with increased risk of nonmelanoma skin cancer
References
External links
GeneReviews/NCBI/NIH/UW entry on Nevoid Basal Cell Carcinoma Syndrome
GeneReviews/NCBI/NIH/UW entry on 9q22.3 Microdeletion
US National Library of Medicine page |
Quartan fever | Quartan fever is one of the four types of malaria which can be contracted by humans.It is specifically caused by the Plasmodium malariae species, one of the six species of the protozoan genus Plasmodium. Quartan fever is a form of malaria where an onset of fever occurs in an interval of three to four days, hence the name "quartan". It is transmitted by bites of infected female mosquitoes of the genus Anopheles. Symptoms include fevers which range from approximately 40–41 °C (104–106 °F) and occur periodically in 72 hour intervals. Although cases of malaria have occurred throughout the world, quartan fever typically occurs in the subtropics. Quartan fever is considered to be a less severe form of malaria fever that can be cured by anti-malarial medication, and prevention methods can be taken in order to avoid infection.
Cause
The female Anopheles mosquito is a vector which transmits quartan fever to people. Mature mosquitoes carry uninucleate sporozoites in their salivary glands; these sporozoites enter a humans bloodstream when mosquitoes puncture human flesh during feeding. Sporozoites attack and inhabit liver parenchymal cells, called hepatocytes, in order to develop further. Once the uninucleate sporozoites have matured, the sporozoites then develop into uninucleate merozoites. Uninucleated merozoites mature into an erythrocytic stage called schizonts which contain merozoites. The schizonts, an infected erythrocyte, then rupture to release these merozoites; leading to more infections in the red blood cells. Uninucleated merozoites can also mature into uninucleate gametocytes which can invade and infect other female Anopheles mosquitoes during feeding, thus spreading the disease onto a wider population of humans.
Diagnosis
Fevers in intervals of 72 hours distinguish quartan fever from other forms of malaria where fevers range in 48 hour intervals or fever spikes that occur sporadically.Early indications of quartan fever include having irritated spots, welts, hives and burning skin, however this is dependent on individuals tolerance to mosquito bites and may not be evident on some people. With the Anopheles malaria mosquitoes, the welts are most likely to not appear unless there are severe allergic reactions.The prepatent period is the time interval for when parasites infect a host and when they can be detected on a thick blood film. For quartan fever, P. malariae has a prepatent period ranging from 16 to 59 days. Specifically in the case of quartan fever, the rupturing of liver stage schizonts releases merozoites. This stage of the P. malariae life cycle is known as the "ring stages" and are the first stages which can be detected in human blood for diagnosis.
Medical procedures that diagnose a patient with quartan fever
Blood smears can be used to detect the parasites within red blood cells, thick blood smears are typically used initially to detect the parasites, then it is followed by thin blood smears which can detect the parasites as the morphology of erythrocytes is maintained through the process.
Peripheral blood films stained with Giemsa stain are a method of blood examination used to diagnose the presence of Plasmodium malariae, and detect quartan fever.
Rapid diagnostic tests can detect the antigens which cause malaria, a sample of blood is collected from the patient and placed on a test card. After 15–20 minutes bands show up on the test card which indicate the specific species of malaria the patient is infected with.
Serological tests are used in general to detect whether a patient has developed antibodies to specific microorganism, therefore serological tests are used to detect past encounters with Plasmodium virus rather than acute cases where a patient has just been infected with P. malariae and has quartan fever.
Polymerase chain reactions (PCR) are used to diagnosis Plasmodium malariae (cause of quartan fever) as well as to distinguish mixed infections with different species of Plasmodium.
Treatment
Chloroquine is an anti-malarial medication administered in the form of a tablet for ingestion.
Chloroquine is a water-soluble drug which is used to treat quartan fever. It is ingested in a compressed tablet form and is absorbed by the gastrointestinal tract.
Hydroxychloroquine, another anti-malarial, is used to treat quartan fever. Hydroxychloroquine is also typically administered to patients with lupus flares.
Both hydroxychloroquine and chloroquine have a side effect of retinal toxicity when administered to infected patients.
Adverse effects of the drug chloroquine include agitation, anxiety, confusion, gastrointestinal discomfort, blurring vision and/or irreversible retinopathy.
Sulfadoxine-pyrimethamine (SP) is administered to pregnant women. Two to three doses of SP has been proven to reduce the levels of placental malaria and had a reduced risk of moderate to severe anemia.
Prevention
Ways to minimise exposure to the Anopheles mosquito include:
Indoor residual sprays are one of the most utilised methods of malaria prevention by the Global Malaria Eradication Campaign. Spraying is a method used to control malaria epidemics.
Nets treated with insecticide are effective at preventing mosquito contact for three years. The World Health Organization (WHO) specifically protects younger children and pregnant women in order to reduce the risk of spreading quartan fever within the population.
Sulfadoxine-pyrimethamine (SP) administration to pregnant women is also a source of prevention in order to reduce the risks of maternal anaemia, low birth rate, and perinatal mortality. SP reduces the impact quartan fever may have on newborns and decrease the mortality rate. This method of prevention is known as "chemoprevention."
House improvement is also a method of prevention. Traditional houses consisting of natural materials are susceptible to gaps which allow entry to Anopheles mosquitoes. House improvements including sealed windows and doors reduce the risk of coming in contact with the infected mosquitoes.
Larval source management is the control and monitoring of aquatic environments in order to prevent Anopheles mosquitoes from fully developing. Mosquitoes require aquatic environments in order to fully mature and develop. Once the mosquito eggs hatch, the larva must live in the water and develop into pupa. The pupa stage then matures into a fully developed mosquito and emerges from its aquatic habitat. When removing any water-filled containers from the surrounding area the mosquito life cycle is halted and acts as a method to reduce mosquito population within the surrounding area.
Clothing can act as a physical barrier to prevent exposure of flesh for mosquitoes to feed on, treating beds and clothing with insecticides/repellents can further reduce chances of infected mosquitoes from biting and passing quartan fever to individuals.
Avoiding areas which have high mosquito populations, specifically for quartan fever the P. malariae strain.
Avoiding travelling to regions which have a subtropical climate to prevent infection and developing quartan fever.
Implementing the sugar baiting method aids in reducing the population of Anopheles mosquitoes, and ultimately reducing the likelihood of catching quartan fever. Both male and female mosquitoes feed on the attractive toxic sugar bait (ATSB) and ingest low-risk oral toxins e.g. boric acid. This leads to mosquito death and reduces population.
== References == |
Sialuria | Sialuria is a group of disorders resulting in an accumulation of free sialic acid. One type, known as the Finnish type or Salla disease has been described in northeastern Finland and is due to a mutation in gene SLC17A5 on chromosome 6q4-15. The "French type sialuria" (Online Mendelian Inheritance in Man (OMIM): 269921), is a very rare condition presenting in infancy with failure to thrive, yellowish skin, large liver, low blood count, recurrent chest infections, bowel upsets, dehydration and characteristic facial features.
References
== External links == |
Apocrine nevus | An Apocrine nevus is an extremely rare cutaneous condition that is composed of hyperplastic mature apocrine glands.: 775
See also
Eccrine nevus
Seborrheic keratosis
List of cutaneous conditions
References
== External links == |
Hashimotos thyroiditis | Hashimotos thyroiditis, also known as chronic lymphocytic thyroiditis and Hashimotos disease, is an autoimmune disease in which the thyroid gland is gradually destroyed. Early on, symptoms may not be noticed. Over time, the thyroid may enlarge, forming a painless goiter. Some people eventually develop hypothyroidism with accompanying weight gain, fatigue, constipation, depression, hair loss, and general pains. After many years the thyroid typically shrinks in size. Potential complications include thyroid lymphoma. Furthermore, because it is common for untreated patients of Hashimotos to develop hypothyroidism, further complications can include, but are not limited to, high cholesterol, heart disease, heart failure, high blood pressure, myxedema, and potential pregnancy problems.Hashimotos thyroiditis is thought to be due to a combination of genetic and environmental factors. Risk factors include a family history of the condition and having another autoimmune disease. Diagnosis is confirmed with blood tests for TSH, T4, and antithyroid autoantibodies. Other conditions that can produce similar symptoms include Graves disease and nontoxic nodular goiter.Hashimotos thyroiditis is typically treated with levothyroxine. If hypothyroidism is not present, some may recommend no treatment, while others may treat to try to reduce the size of the goiter. Those affected should avoid eating large amounts of iodine; however, sufficient iodine is required especially during pregnancy. Surgery is rarely required to treat the goiter.Hashimotos thyroiditis affects about 5% of Caucasians at some point in their lives. It typically begins between the ages of 30 and 50 and is much more common in women than men. Rates of the disease appear to be increasing. It was first described by the Japanese physician Hakaru Hashimoto in 1912. In 1957, it was recognized as an autoimmune disorder.
Signs and symptoms
Many symptoms are attributed to the development of Hashimotos thyroiditis. The most common symptoms include: fatigue, weight gain, pale or puffy face, feeling cold, joint and muscle pain, constipation, dry and thinning hair, heavy menstrual flow or irregular periods, depression, panic disorder, a slowed heart rate, and problems getting pregnant and miscarriages.Hashimotos disease is about seven times more common in women than in men. It can occur in teens and young women, but more commonly appears in middle age, particularly for men. People who develop Hashimotos disease often have family members who have thyroid or other autoimmune diseases, and sometimes have other autoimmune diseases themselves.The thyroid gland may become firm, large, and lobulated in Hashimotos thyroiditis, but changes in the thyroid can also be nonpalpable. Enlargement of the thyroid is due to lymphocytic infiltration and fibrosis, rather than tissue hypertrophy. While their role in the initial destruction of the follicles is unclear, antibodies against thyroid peroxidase or thyroglobulin are relevant, as they serve as markers for detecting the disease and its severity. They are thought to be the secondary products of the T cell-mediated destruction of the gland.It is also characterized by invasion of the thyroid tissue by leukocytes, mainly T-lymphocytes. A rare but serious complication is thyroid lymphoma, generally the B-cell type, non-Hodgkin lymphoma.
Risk factors
The strong genetic component is borne out in studies on monozygotic twins, with a concordance of 38–55%, with an even higher concordance of circulating thyroid antibodies not in relation to clinical presentation (up to 80% in monozygotic twins). Neither result was seen to a similar degree in dizygotic twins, offering strong favour for high genetic aetiology.
Medications that influence thyroid function
Certain medications or drugs have been associated with altering and interfering with thyroid function. Of these drugs, there are two main mechanisms of interference that they can have.One of the mechanisms of interference is when a drug alters thyroid hormone serum transfer proteins. Estrogen, tamoxifen, heroin, methadone, clofibrate, 5-flurouracile, mitotane, and perphenazine all increase thyroid binding globulin (TBG) concentration. Androgens, anabolic steroids such as danazol, glucocorticoids, and slow release nicotinic acid all decrease TBG concentrations. Furosemide, fenoflenac, mefenamic acid, salicylates, phenytoin, diazepam, sulphonylureas, free fatty acids, and heparin all interfere with thyroid hormone binding to TBG and/or transthyretin.The other mechanism that medications can utilize to interfere with thyroid function would be to alter extra-thryoidal metabolism of thyroid hormone. Propylthiouracil, glucocorticoids, propanolol, iondinated contrast agents, amiodarone, and clomipramine all inhibit conversion of T4 and T3. Phenobarbital, rifampin, phenytoin and carbamazepine all increase hepatic metabolism. Finally, cholestryamine, colestipol, aluminium hydroxide, ferrous sulphate, and sucralfate are all drugs that decrease T4 absorption or enhance excretion.
HLA genes
The first gene locus associated with autoimmune thyroid disease was major histocompatibility complex (MHC) region on chromosome 6p21. It encodes HLAs. Specific HLA alleles have a higher affinity to autoantigenic thyroidal peptides and can contribute to autoimmune thyroid disease development. Specifically, in Hashimotos disease, aberrant expression of HLA II on thyrocytes has been demonstrated. They can present thyroid autoantigens and initiate autoimmune thyroid disease. Susceptibility alleles are not consistent in Hashimotos disease. In Caucasians, various alleles are reported to be associated with the disease, including DR3, DR5 and DQ7.
CTLA-4 genes
This gene is the second major immune-regulatory gene related to autoimmune thyroid disease. CTLA-4 gene polymorphisms may contribute to the reduced inhibition of T-cell proliferation and increase susceptibility to autoimmune response. CTLA-4 is a major thyroid autoantibody susceptibility gene. A linkage of the CTLA-4 region to the presence of thyroid autoantibodies was demonstrated by a whole-genome linkage analysis. CTLA-4 was confirmed as the main locus for thyroid autoantibodies.
Protein tyrosine phosphatase nonreceptor-type 22 gene
PTPN22 is the most recently identified immune-regulatory gene associated with autoimmune thyroid disease. It is located on chromosome 1p13 and expressed in lymphocytes. It acts as a negative regulator of T-cell activation. Mutation in this gene is a risk factor for many autoimmune diseases. Weaker T-cell signaling may lead to impaired thymic deletion of autoreactive T cells, and increased PTPN22 function may result in inhibition of regulatory T cells, which protect against autoimmunity.
Immune-related genes
IFN-γ promotes cell-mediated cytotoxicity against thyroid mutations causing increased production of IFN-γ were associated with the severity of hypothyroidism. Severe hypothyroidism is associated with mutations leading to lower production of IL-4 (Th2 cytokine suppressing cell-mediated autoimmunity), lower secretion of TGF-β (inhibitor of cytokine production), and mutations of FoxP3, an essential regulatory factor for the Tregs development. Development of Hashimotos disease was associated with mutation of the gene for TNF-α (stimulator of the IFN-γ production), causing its higher concentration.Preventable environmental factors, including high iodine intake, selenium deficiency, and infectious diseases and certain drugs, have been implicated in the development of autoimmune thyroid disease in genetically predisposed individuals.
Iodine
Excessive iodine intake is a well-established environmental factor for triggering thyroid autoimmunity. A higher prevalence of thyroid autoantibodies is in the areas with higher iodine supply.
Several mechanisms by which iodine may promote thyroid autoimmunity have been proposed. Iodine exposure leads to higher iodination of thyroglobulin, increasing its immunogenicity by creating new iodine-containing epitopes or exposing cryptic epitopes. It may facilitate presentation by APC, enhance the binding affinity of the T-cell receptor, and activating specific T-cells.Iodine exposure has been shown to increase the level of reactive oxygen species. They enhance the expression of the intracellular adhesion molecule-1 on the thyroid follicular cells, which could attract the immunocompetent cells into the thyroid gland.Iodine is toxic to thyrocytes since highly reactive oxygen species may bind to membrane lipids and proteins. It causes thyrocyte damage and the release of autoantigens. Iodine also promotes follicular cell apoptosis and has an influence on immune cells (augmented maturation of dendritic cells, increased number of T cells, stimulated B-cell immunoglobulin production).Data from The Danish Investigation of Iodine Intake and Thyroid Disease shows that within two cohorts (males, females) with moderate and mild iodine deficiency, the levels of both thyroid peroxidase and thyroglobulin antibodies are higher in females, and prevalence rates of both antibodies increase with age.
Sex
Study of healthy Danish twins divided to three groups (monozygotic and dizygotic same sex, and opposite sex twin pairs) estimated that genetic contribution to thyroid peroxidase antibodies susceptibility was 61% in males and 72% in females, and contribution to thyroglobulin antibodies susceptibility was 39% in males and 75% in females.The high female predominance in thyroid autoimmunity may be associated with the X chromosome. It contains sex and immune-related genes responsible for immune tolerance.
A higher incidence of thyroid autoimmunity was reported in patients with a higher rate of X chromosome monosomy in peripheral white blood cells.Another potential mechanism might be skewed X-chromosome inactivation, leading to the escape of X-linked self-antigens from presentation in the thymus and loss of T-cell tolerance.Having other autoimmune diseases is a risk factor for developing Hashimotos thyroiditis, and the opposite is also true. Autoimmune diseases most commonly associated to Hashimotos thyroiditis include celiac disease, type 1 diabetes, vitiligo, and alopecia.The genes implicated vary in different ethnic groups and the incidence is increased in people with chromosomal disorders, including Turner, Down, and Klinefelter syndromes usually associated with autoantibodies against thyroglobulin and thyroperoxidase. Progressive depletion of these cells as the cytotoxic immune response leads to higher degrees of primary hypothyroidism, presenting with low T3/T4 levels, and compensatory elevations of TSH.
Pathophysiology
Multiple mechanisms by which the pathology of Hashimotos thyroiditis develops have been suggested.
Various autoantibodies may be present against thyroid peroxidase, thyroglobulin and TSH receptors, although a small percentage of people may have none of these antibodies present. As indicated in various twin studies, a percentage of the population may also have these antibodies without developing Hashimotos thyroiditis. Nevertheless, antibody-dependent, cell-mediated cytotoxicity is a substantial factor behind the apoptotic fall-out of Hashimotos thyroiditis. Activation of cytotoxic T-lymphocytes (CD8+ T-cells) in response to cell-mediated immune response affected by helper T-lymphocytes (CD4+ T-cells) is central to thyrocyte destruction. As is characteristic of type IV hypersensitivities, recruitment of macrophages is another effect of the helper T-lymphocyte activation, with Th1 axis lymphocytes producing inflammatory cytokines within thyroid tissue to further macrophage activation and migration into the thyroid gland for direct effect.Gross morphological changes within the thyroid are seen in the general enlargement, which is far more locally nodular and irregular than more diffuse patterns (such as that of hyperthyroidism). While the capsule is intact and the gland itself is still distinct from surrounding tissue, microscopic examination can provide a more revealing indication of the level of damage.Histologically, the hypersensitivity is seen as diffuse parenchymal infiltration by lymphocytes, particularly plasma B-cells, which can often be seen as secondary lymphoid follicles (germinal centers, not to be confused with the normally present colloid-filled follicles that constitute the thyroid). Atrophy of the colloid bodies is lined by Hürthle cells, cells with intensely eosinophilic, granular cytoplasm, a metaplasia from the normal cuboidal cells that constitute the lining of the thyroid follicles. Severe thyroid atrophy presents often with denser fibrotic bands of collagen that remains within the confines of the thyroid capsule.
Diagnosis
Diagnosis is usually made by detecting elevated levels of antithyroid peroxidase antibodies in the serum, but seronegative (without circulating autoantibodies) thyroiditis is also possible.Given the relatively nonspecific symptoms of initial hypothyroidism, Hashimotos thyroiditis is often misdiagnosed as depression, cyclothymia, premenstrual syndrome, chronic fatigue syndrome, fibromyalgia, and less frequently, as erectile dysfunction or an anxiety disorder. On gross examination, a hard goiter that is not painful to the touch often presents; other symptoms seen with hypothyroidism, such as periorbital myxedema, depend on the current state of progression of the response, especially given the usually gradual development of clinically relevant hypothyroidism. Testing for thyroid-stimulating hormone (TSH), free T3, free T4, and the antithyroglobulin antibodies (anti-Tg), antithyroid peroxidase antibodies (anti-TPO, or TPOAb) and antimicrosomal antibodies can help obtain an accurate diagnosis. Earlier assessment of the person may present with elevated levels of thyroglobulin owing to transient thyrotoxicosis, as inflammation within the thyroid causes damage to the integrity of thyroid follicle storage of thyroglobulin; TSH secretion from the anterior pituitary increases in response to a decrease in negative feedback inhibition secondary to decreased serum thyroid hormones. Typically, T4 is the preferred thyroid hormone test for hypothyroidism. This exposure of the body to substantial amounts of previously isolated thyroid enzymes is thought to contribute to the exacerbation of tolerance breakdown, giving rise to the more pronounced symptoms seen later in the disease. Lymphocytic infiltration of the thyrocyte-associated tissues often leads to the histologically significant finding of germinal center development within the thyroid gland.Hashimotos when presenting as mania is known as Prasads syndrome after Ashok Prasad, the psychiatrist who first described it.
Treatment
Managing hormone levels
Hypothyroidism caused by Hashimotos thyroiditis is treated with thyroid hormone replacement agents such as levothyroxine, triiodothyronine, or desiccated thyroid extract. A tablet taken once a day generally keeps the thyroid hormone levels normal. In most cases, the treatment needs to be taken for the rest of the persons life. If hypothyroidism is caused by Hashimotos thyroiditis, the TSH levels may be recommended to be kept under 3.0 mIU/l.
Prognosis
Overt, symptomatic thyroid dysfunction is the most common complication, with about 5% of people with subclinical hypothyroidism and chronic autoimmune thyroiditis progressing to thyroid failure every year. Transient periods of thyrotoxicosis (over-activity of the thyroid) sometimes occur, and rarely the illness may progress to full hyperthyroid Graves disease with active orbitopathy (bulging, inflamed eyes). Rare cases of fibrous autoimmune thyroiditis present with severe shortness of breath and difficulty swallowing, resembling aggressive thyroid tumors, but such symptoms always improve with surgery or corticosteroid therapy. Although primary thyroid B-cell lymphoma affects fewer than one in 1000 persons, it is more likely to affect those with long-standing autoimmune thyroiditis, as there is a 67 to 80 fold increased risk of developing primary thyroid lymphoma in patients of Hashimotos thyroiditis.
Epidemiology
Hashimotos thyroiditis disorder is thought to be the most common cause of primary hypothyroidism in North America. Within person, place, and time descriptive trends of epidemiology, it becomes more clear on how Hashimotos thyroiditis develops in and impacts differing populations.
Personal characteristic trends
Overall, Hashimotos thyroiditis affects up to 2% of the general population. About 5% of Caucasians will develop Hashimotos at some point in their lives. In the US, the African-American population experiences it less commonly but has greater associated mortality. It is also less frequent in Asian populations. About 1.0 to 1.5 in 1000 people have this disease at any time. It occurs between 8 and 15 times more often in women than in men. Some research suggests a connection to the role of the placenta as an explanation for the sex difference. Though it may occur at any age, including in children, it is most often observed in women between 30 and 60 years of age. The highest prevalence from one study was found in the elderly members of the community.Those that already have an autoimmune disease are at greater risk of developing Hashimotos as the diseases generally coexist with each other. Common diseases seen coexisting with Hashimotos include celiac disease, multiple sclerosis, type 1 diabetes, vitiligo, and rheumatoid arthritis.Congenital hypothyroidism affects 1 in 3500-4000 newborns at birth and is a version of intellectual disability that can be treated if caught early, but can be hard to diagnose given that symptoms are minimal at a young age. Congenital hypothyroidism is generally caused by defects of the thyroid gland, but for most cases in Europe, Asia, and Africa, the iodine intake can cause hypothyroidism in newborns.
Geographic influence of dietary trends
Diets consisting of low or high iodine intake determine a populations risk of developing thyroid-related disorders. It is more common in regions of high iodine dietary intake, and among people who are genetically susceptible. Geography plays a large role in which regions have access to diets with low or high iodine. Iodine levels in both water and salt should be heavily monitored in order to protect at-risk populations from developing hypothyroidism.Geographic trends of hypothyroidism vary across the world as different places have different ways of defining disease and reporting cases. Populations that are spread out or defined poorly may skew data in unexpected ways.Iodine Deficiency Disorder (IDD) is combated using an increase in iodine in a persons diet. When a dramatic change occurs in a persons diet, they become more at-risk of developing hypothyroidism and other thyroid disorders. Combatting IDD with high salt intakes should be done carefully and cautiously as risk for Hashimotos may increase. If making modifications to ones diet, it is important to use a clinicians discretion to ensure that the dietary changes are the best option as recommendations can vary person to person.
Secular trends
The secular trends of hypothyroidism reveal how the disease has changed over the course of time given changes in technology and treatment options. Even though ultrasound technology and treatment options have improved, the incidence of hypothyroidism has increased according to data focused on the US and Europe. Between 1993 and 2001, per 1000 women, the disease was found varying between 3.9 and 4.89. Between 1994 and 2001, per 1000 men, the disease increased from 0.65 to 1.01.Changes in the definition of hypothyroidism and treatment options modify the incidence and prevalence of the disease overall. Treatment using levothyroxine is individualized, and therefore allows the disease to be more manageable with time but does not work as a cure for the disease.
History
Also known as Hashimotos disease, Hashimotos thyroiditis is named after Japanese physician Hakaru Hashimoto (1881−1934) of the medical school at Kyushu University, who first described the symptoms of persons with struma lymphomatosa, an intense infiltration of lymphocytes within the thyroid, in 1912 in the German journal called Archiv für Klinische Chirurgie. This paper was made up of 30 pages and 5 illustrations all describing the histological changes in the thyroid tissue. Furthermore, all results in his first study were collected from four women. These results explained the pathological characteristics observed in these women especially the infiltration of lymphoid and plasma cells as well as the formation of lymphoid follicles with germinal centers, fibrosis, degenerated thyroid epithelial cells and leukocytes in the lumen. He described these traits to be histologically similar to those of Mikulics disease. Like mentioned above, once he discovered these traits in this new disease, he names the disease struma lymphomatosa. This disease emphasized the lymphoid cell infiltration and formation of the lymphoid follicles with germinal centers, neither of which had ever been previously reported.Despite Dr. Hashimotos discovery and publication, the disease was unfortunately not recognized as distinct from Reidels Thyroiditis which was a common disease at that time in Europe. Although many other articles were reported and published by other researchers, Hashimotos struma lymphomatosa was only recognized as an early phase of Reidels Thyroiditis in the early 1900s. It was not until 1931 that the disease was recognized as a disease in its own right when researchers Allen Graham et al from Cleveland reported its symptoms and presentation in the same detailed manner as Hakaru.In 1956, Drs. Rose and Witebsky were able to demonstrate how immunization of certain rodents with extracts of other rodents thyroid resembled the disease Hakaru and other researchers were trying to describe. These doctors were also able to describe anti-thyroglobulin antibodies in blood serum samples from these same animals.Later on in the same year, researches from the Middlesex Hospital in London were able to perform human experiments on patients who presented with similar symptoms. They purified anti-thyroglobulin antibody from their serum and were able to conclude that these sick patients have an immunological reaction to human thyroglobulin. From this data, it was proposed that Hashimotos struma could be an autoimmune disease of the thyroid gland.
In 1957, it was recognized as an autoimmune disorder and was the first organ-specific autoimmune disorder identified.Following this recognition, the same researchers from Middlesex Hospital published an article in 1962 in Lancet which ended up including a portrait of Hakaru Hashimoto. The disease was able to become so much more well known from that moment and Hashimotos disease became to appear more frequently in textbooks.Since those discoveries, a number of autoimmune diseases have been able to be discovered with several of them having to do with thyroid-specific antibodies.
Pregnancy
Pregnant women who are positive for Hashimotos thyroiditis may have decreased thyroid function or the gland may fail entirely. If a woman is TPOAb-positive, clinicians can inform her of the risks for herself and her infant if the disease goes untreated. "Thyroid peroxidase antibodies (TPOAb) are detected in 10% of pregnant women", which presents risks to those pregnancies. Women who have low thyroid function that has not been stabilized are at greater risk of having an infant with: low birth weight, neonatal respiratory distress, hydrocephalus, hypospadias, miscarriage, and preterm delivery. The embryo transplantion rate and successful pregnancy outcomes are improved when Hashimotos is treated. Recommendations are to treat pregnant women only if they are TPOAb-positive throughout the entirety of their pregnancies and to screen all pregnant women for thyroid levels. Close cooperation between the endocrinologist and obstetrician benefits the woman and the infant. The Endocrine Society recommends screening in pregnant women who are considered high-risk for thyroid autoimmune disease.Thyroid peroxides antibodies testing is recommended for women who have ever been pregnant regardless of pregnancy outcome. "[P]revious pregnancy plays a major role in development of autoimmune overt hypothyroidism in premenopausal women, and the number of previous pregnancies should be taken into account when evaluating the risk of hypothyroidism in a young women [sic]."Hormonal changes and trophoblast expression of key immunomodulatory molecules lead to immunosuppression and fetal tolerance. Main players in regulation of the immune response are Tregs. Both cell-mediated and humoral immune responses are attenuated, resulting in immune tolerance and suppression of autoimmunity. It has been reported that during pregnancy, levels of thyroid peroxidase and thyroglobulin antibodies decrease. After giving birth, Tregs rapidly decrease and immune responses are re-established. It may lead to the occurrence or aggravation of the autoimmune thyroid disease. In up to 50% of females with thyroid peroxidase antibodies in the early pregnancy, thyroid autoimmunity in the postpartum period exacerbates in the form of postpartum thyroiditis. Higher secretion of IFN-γ and IL-4, and lower plasma cortisol concentration during pregnancy has been reported in females with postpartum thyroiditis than in healthy females. It indicates that weaker immunosuppression during pregnancy could contribute to the postpartum thyroid dysfunction.
Fetal microchimerism
Several years after the delivery, the chimeric male cells can be detected in the maternal peripheral blood, thyroid, lung, skin, or lymph nodes. The fetal immune cells in the maternal thyroid gland may become activated and act as a trigger that may initiate or exaggerate the autoimmune thyroid disease. In Hashimotos disease patients, fetal microchimeric cells were detected in thyroid in significantly higher numbers than in healthy females.
See also
Hashimotos encephalopathy
Myxedematous psychosis
Hashitoxicosis
== References == |
Joubert syndrome | Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination.
Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa. The syndrome was first identified in 1969 by pediatric neurologist Marie Joubert in Montreal, Quebec, Canada, while working at the Montreal Neurological Institute and McGill University.
Signs and symptoms
Most of the signs and symptoms of the Joubert syndrome appear very early in infancy with most children showing delays in gross motor milestones. Although other signs and symptoms vary widely from individual to individual, they generally fall under the hallmark of cerebellum involvement or in this case, lack thereof. Consequently, the most common features include ataxia (lack of muscle control), hyperpnea (abnormal breathing patterns), sleep apnea, abnormal eye and tongue movements, and hypotonia in early childhood. Other malformations such as polydactyly (extra fingers and toes), cleft lip or palate, tongue abnormalities, and seizures may also occur. Developmental delays, including cognitive, are always present to some degree. Severe forms have been noted to include hypoplasia of the corpus callosum.Those with this syndrome often exhibit specific facial features such as a broad forehead, arched eyebrows, ptosis (droopy eyelids), hypertelorism (widely spaced eyes), low-set ears and a triangle shaped mouth. Additionally, this disease can include a broad range of other abnormalities to other organ systems such as retinal dystrophy, kidney diseases, liver diseases, skeletal deformities and endocrine (hormonal) problems.
Genetics
A number of mutations have been identified in individuals with Joubert syndrome (JBTS) which allowed for classification of the disorder into subtypes.This disorder can be caused by mutations in more than 30 genes within genetic makeup. The primary cilia play an important role in the structure and function of cells. When primary cilia are mutated and defected, it can cause various genetic disorders among individuals. This mutation of primary cilia can disrupt significant signaling pathways during the development of the fetus.Mutations in these various genes are known for causing around 60-90% of Joubert Syndrome cases. The remaining cases, the cause is unknown if isnt linked to a mutation of known genes.
Diagnosis
The disorder is characterized by absence or underdevelopment of the cerebellar vermis and a malformed brain stem (molar tooth sign), both of which can be visualized on a transverse view of head MRI scan. Together with this sign, the diagnosis is based on the physical symptoms and genetic testing for mutations. If the gene mutations have been identified in a family member, prenatal or carrier diagnosis can be pursued.Joubert Syndrome is known to affect 1 in 80,000-100,000 newborns. Due to the variety of genes this disorder is affected by, it is likely to be under-diagnosed. It is commonly found in Ashkenazi Jewish, French-Canadians, and Hutterite ethnic populations. Most cases of Joubert syndrome are autosomal recessive - in these cases, both parents are either carriers or affected. Rarely, Joubert syndrome is inherited in an X-linked recessive pattern. In these cases, males are more commonly affected because affected males must have one X chromosome mutated, while affected females must have mutated genes on both X chromosomes.
Treatment
Treatment for Joubert syndrome is symptomatic and supportive. Infants with abnormal breathing patterns should be monitored. The syndrome is associated with progressive worsening for kidneys, the liver and the eyes and thus requires regular monitoring.Delays in gross motor skills, fine motor skills and speech development are seen in almost all individuals with Joubert syndrome. Delays can be due to low muscle tone as well as impaired motor coordination. Some children have also been noted to have visual impairment due to abnormal eye movements. Developmental delays are usually treated with physical therapy, occupational therapy, and speech therapy interventions. Most children diagnosed with Joubert syndrome are able to achieve standard milestones, although often at a much later age.
Prognosis
In a sample of 19 children, a 1997 study found that 3 died before the age of 3, and 2 never learned to walk. The children had various levels of delayed development with developmental quotients from 60 to 85.
Research
Research has revealed that a number of genetic disorders, not previously thought to be related, may indeed be related as to their root cause. Joubert syndrome is one such disease. It is a member of an emerging class of diseases called ciliopathies.The underlying cause of the ciliopathies may be a dysfunctional molecular mechanism in the primary cilia structures of the cell, organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous critical developmental signaling pathways" essential to cellular development and thus offer a plausible hypothesis for the often multi-symptom nature of a large set of syndromes and diseases.Currently recognized ciliopathies include Joubert syndrome, primary ciliary dyskinesia (also known as Kartagener Syndrome), Bardet–Biedl syndrome, polycystic kidney disease and polycystic liver disease, nephronophthisis, Alström syndrome, Meckel–Gruber syndrome and some forms of retinal degeneration.Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent.
References
External links
NINDS Joubert Syndrome Information Page
Researchers Identify Joubert Syndrome Genes
GeneReviews: Joubert syndrome
NCBI Joubert Syndrome |
Anetoderma | Anetoderma is a localized laxity of the skin with herniation or outpouching resulting from abnormal dermal elastic tissue. Anetoderma comes in three types:
Primary anetoderma
Jadassohn–Pellizzari anetoderma is a benign condition with focal loss of dermal elastic tissue. Jadassohn-Pellizzari is one of two major classifications of primary anetoderma, the other being Schweninger–Buzzi anetoderma. The difference between the two is that Jadassohn–Pellizzari anetoderma is preceded by inflammatory lesions.
Schweninger–Buzzi anetoderma is a cutaneous condition characterized by loss of dermal elastic tissue.
Secondary anetoderma
Familial anetoderma
See also
List of cutaneous conditions
References
== External links == |
Diabetic cardiomyopathy | Diabetic cardiomyopathy is a disorder of the heart muscle in people with diabetes. It can lead to inability of the heart to circulate blood through the body effectively, a state known as heart failure, with accumulation of fluid in the lungs (pulmonary edema) or legs (peripheral edema). Most heart failure in people with diabetes results from coronary artery disease, and diabetic cardiomyopathy is only said to exist if there is no coronary artery disease to explain the heart muscle disorder.
Signs and symptoms
One particularity of diabetic cardiomyopathy is the long latent phase, during which the disease progresses but is completely asymptomatic. In most cases, diabetic cardiomyopathy is detected with concomitant hypertension or coronary artery disease. One of the earliest signs is mild left ventricular diastolic dysfunction with little effect on ventricular filling. Also, the diabetic patient may show subtle signs of diabetic cardiomyopathy related to decreased left ventricular compliance or left ventricular hypertrophy or a combination of both. A prominent "a" wave can also be noted in the jugular venous pulse, and the cardiac apical impulse may be overactive or sustained throughout systole. After the development of systolic dysfunction, left ventricular dilation and symptomatic heart failure, the jugular venous pressure may become elevated, the apical impulse would be displaced downward and to the left. Systolic mitral murmur is not uncommon in these cases. These changes are accompanied by a variety of electrocardiographic changes that
may be associated with diabetic cardiomyopathy in 60% of patients without structural heart disease, although usually not in the early asymptomatic phase. Later in the progression, a prolonged QT interval may be indicative of fibrosis. Given that diabetic cardiomyopathys definition excludes concomitant atherosclerosis or hypertension, there are no changes in perfusion or in atrial natriuretic peptide levels up until the very late stages of the disease, when the hypertrophy and fibrosis become very pronounced.
Pathophysiology
Defects in cellular processes such as autophagy and mitophagy are thought to contribute to the development of diabetic cardiomyopathy. Diabetic cardiomyopathy is characterized functionally by ventricular dilation, enlargement of heart cells, prominent interstitial fibrosis and decreased or preserved systolic function in the presence of a diastolic dysfunction.While it has been evident for a long time that the complications seen in diabetes are related to the hyperglycemia associated to it, several factors have been implicated in the pathogenesis of the disease. Etiologically, four main causes are responsible for the development of heart failure in diabetic cardiomyopathy: microangiopathy and related endothelial dysfunction, autonomic neuropathy, metabolic alterations that include abnormal glucose use and increased fatty acid oxidation, generation and accumulation of free radicals, and alterations in ion homeostasis, especially calcium transients. Additional effects include inflammation and upregulation of local angiotensin systems.
Diabetic cardiomyopathy may be associated with restrictive (HFPEF) and dilated phenotypes (HFREF). HFPEF results predominantly from hyperinsulinemia, hyperglycemia, lipotoxicity, AGEs and microvascular rarefication. HFREF is associated with autoimmunity, hyperglycemia, lipotoxicity, microvascular rarefication and AGE formation.
Microangiopathy
Microangiopathy can be characterized as subendothelial and endothelial fibrosis in the coronary microvasculature of the heart. This endothelial dysfunction leads to impaired myocardial blood flow reserve as evidence by echocardiography. About 50% of diabetics with diabetic cardiomyopathy show pathologic evidence for microangiopathy such as sub-endothelial and endothelial fibrosis, compared to only 21% of non-diabetic heart failure patients.
Over the years, several hypotheses were postulated to explain the endothelial dysfunction observed in diabetes. It was hypothesized that the extracellular hyperglycemia leads to an intracellular hyperglycemia in cells unable to regulate their glucose uptake, most predominantly, endothelial cells. Indeed, while hepatocytes and myocytes have mechanisms allowing them to internalize their glucose transporter, endothelial cells do not possess this ability.
The consequences of increased intracellular glucose concentration are fourfold, all resulting from increasing concentration of glycolytic intermediates upstream of the rate-limiting glyceraldehyde-3-phosphate reaction which is inhibited by mechanisms activated by increased free radical formation, common in diabetes. Four pathways, enumerated below all explain part of the diabetic complications.
First, it has been widely reported since the 1960s that hyperglycemia causes an increase in the flux through aldose reductase and the polyol pathway. Increased activity of the detoxifying aldose reductase enzyme leads to a depletion of the essential cofactor NADH, thereby disrupting crucial cell processes. Second, increasing fructose 6-phosphate, a glycolysis intermediate, will lead to increased flux through the hexosamine pathway. This produces N-acetyl glucosamine that can add on serine and threonine residues and alter signaling pathways as well as cause pathological induction of certain transcription factors. Third, hyperglycemia causes an increase in diacylglycerol, which is also an activator of the Protein Kinase C (PKC) signaling pathway. Induction of PKC causes multiple deleterious effects, including but not limited to blood flow abnormalities, capillary occlusion and pro-inflammatory gene expression. Finally, glucose, as well as other intermediates such as fructose and glyceraldehyde-3-phosphate, when present in high concentrations, promote the formation of advanced glycation endproducts (AGEs). These, in turn, can irreversibly cross link to proteins and cause intracellular aggregates that cannot be degraded by proteases and thereby, alter intracellular signalling. Also, AGEs can be exported to the intercellular space where they can bind AGE receptors (RAGE). This AGE/RAGE interaction activates
inflammatory pathways such as NF-κB, in the host cells in an autocrine fashion, or in macrophages in a paracrine fashion. Neutrophil activation can also lead to NAD(P)H oxidase production of free radicals further damaging the surrounding cells. Finally, exported glycation products bind extracellular proteins and alter the matrix, cell-matrix interactions and promote fibrosis. A major source of increased myocardial stiffness is crosslinking between AGEs and collagen. In fact, a hallmark of uncontrolled diabetes is glycated products in the serum and can be used as a marker for diabetic microangiopathy.
Autonomic neuropathy
While the heart can function without help from the nervous system, it is highly innervated with autonomic nerves, regulating the heart beat according to demand in a fast manner, prior to hormonal release. The autonomic innervations of the myocardium in diabetic cardiomyopathy are altered and contribute to myocardial dysfunction. Unlike the brain, the peripheral nervous system does not benefit from a barrier protecting it from the circulating levels of glucose. Just like endothelial cells, nerve cells cannot regulate their glucose uptake and suffer the same type of damages listed above. Therefore, the diabetic heart shows clear denervation as the pathology progresses. This denervation correlates with echocardiographic evidence of diastolic dysfunction and results in a decline of survival in patients with diabetes from 85% to 44%. Other causes of denervation are ischemia from microvascular disease and thus appear following the development of microangiopathy.
Inflammation
Diabetes is associated with increased inflammation, which is mediated by generation of abnormal fatty acids, AGEs and other mechanisms. The resulting cytokine profile promotes hypertrophy and apoptosis of cardiomyocytes, abnormal calcium signaling, impaired myocardial contractility and myocardial fibrosis. Additionally, it may lead to microvascular dysfunction, either directly or via endothelial damage, thereby promoting myocardial ischemia.
Diagnosis
Diagnostic approaches for diabetic cardiomyopathy include echocardiography, cardiac MRI investigations, Multi‐slice computed tomography (MsCT), and nuclear imaging. Potential risks of the investigation (e.g. exposure to radiation) and diagnostic utility should be weighed for an optimised personalised procedure.
Treatment
At present, there is no effective specific treatment available for diabetic cardiomyopathy. Treatment centers around intense glycemic control through diet, oral hypoglycemics and frequently insulin and management of heart failure symptoms. There is a clear correlation between increased glycemia and risk of developing diabetic cardiomyopathy, therefore, keeping glucose concentrations as controlled as possible is paramount. Thiazolidinediones are not recommended in patients with NYHA Class III or IV heart failure secondary to fluid retention.As with most other heart diseases, ACE inhibitors can also be administered. An analysis of major clinical trials shows that diabetic patients with heart failure benefit from such a therapy to a similar degree as non-diabetics. Similarly, beta blockers are also common in the treatment of heart failure concurrently with ACE inhibitors.
== References == |
Dressler syndrome | Dressler syndrome is a secondary form of pericarditis that occurs in the setting of injury to the heart or the pericardium (the outer lining of the heart). It consists of fever, pleuritic pain, pericarditis and/or a pericardial effusion.
Dressler syndrome is also known as postmyocardial infarction syndrome and the term is sometimes used to refer to post-pericardiotomy pericarditis.
It was first characterized by William Dressler at Maimonides Medical Center in 1956.It should not be confused with the Dresslers syndrome of haemoglobinuria named for Lucas Dressler, who characterized it in 1854.
Presentation
Dressler syndrome was historically a phenomenon complicating about 7% of myocardial infarctions, but in the era of percutaneous coronary intervention, it is very uncommon. The disease consists of a persistent low-grade fever, chest pain (usually pleuritic), pericarditis (usually evidenced by a pericardial friction rub, chest pain worsening when recumbent, and diffuse ST elevation with PR segment depression), and/or a pericardial effusion. The symptoms tend to occur 2–3 weeks after myocardial infarction but can also be delayed a few months. It tends to subside in a few days, and very rarely leads to pericardial tamponade. Elevated ESR is an objective but nonspecific laboratory finding.
Causes
It is believed to result from an autoimmune inflammatory reaction to myocardial neo-antigens formed as a result of the MI. A similar pericarditis can be associated with any pericardiotomy or trauma to the pericardium or heart surgery which is called postcardiotomy syndrome.
Diagnosis
Differential diagnosis
Dressler syndrome needs to be differentiated from pulmonary embolism, another identifiable cause of pleuritic (and non-pleuritic) chest pain in people who have been hospitalized and/or undergone surgical procedures within the preceding weeks. ischaemic heart disease.
Treatment
Dressler syndrome is best treated with high dose aspirin. In some resistant cases, corticosteroids can be used but are not preferred (avoided) in first month due to the high frequency of impaired ventricular healing leading to increased rate of ventricular rupture. Other NSAIDs, though once used to treat Dressler syndrome, are less advocated and should be avoided in patients with ischemic heart disease. One NSAID in particular, indomethacin, can inhibit new collagen deposition, thus impairing the healing process for the infarcted region. Other NSAIDS should be used only in cases refractory to aspirin. Heparin should be avoided because it can lead to hemorrhage into the pericardial sac, leading to tamponade. The only time heparin could be used with pericarditis is with coexisting acute MI, in order to prevent further thrombus formation.
References
== External links == |
Non-occlusive disease | Non-occlusive disease (NOD) or Non-occlusive mesenteric ischaemia (NOMI) is a life-threatening condition including all types of mesenteric ischemia without mesenteric obstruction. It affects mainly elderly patients above 50 years of age who suffer from cardiovascular disease (myocardial infarction, congestive heart failure or aortic regurgitation), hepatic, chronic kidney disease or diabetes mellitus. It can be triggered also by a previous cardiac surgery with a consequent heart shock. It represents around 20% of cases of acute mesenteric ischaemia.
Pathophysiology
Non-occlusive mesenteric ischemia occurs due to severe vasoconstriction of mesenteric vessels supplying the intestine. Acute abdominal pain is the only early acute symptom in those patients, which makes early diagnosis difficult.
Diagnosis
CT angiography would be helpful in differentiating occlusive from non-occlusive causes of mesenteric ischaemia.
Prognosis
Non-occlusive disease has a poor prognosis with survival rate between 40-50%.
== References == |
Arteriosclerosis obliterans | Arteriosclerosis obliterans is an occlusive arterial disease most prominently affecting the abdominal aorta and the small- and medium-sized arteries of the lower extremities, which may lead to absent dorsalis pedis, posterior tibial, and/or popliteal artery pulses.: 842 It is characterized by fibrosis of the tunica intima and calcification of the tunica media.
See also
Arteriosclerosis
Monckebergs arteriosclerosis
Skin lesion
== References == |
Duane-radial ray syndrome | Duane-radial ray syndrome, also known as Okihiro Syndrome, is a rare autosomal dominant disorder that primarily affects the eyes (Duane anomaly) and causes abnormalities of bones in the arms and hands (radial ray malformations). This disorder is considered to be a SALL4-related disorder due to the SALL4 gene mutations leading to these abnormalities. It is diagnosed by clinical findings on a physical exam as well as genetic testing and imaging. After being diagnosed, there are other evaluations that one may go through in order to determine the extent of the disease. There are various treatments for the symptoms of this disorder.
Symptoms
Duane-radial ray syndrome has two major features that appear in the majority of cases. These two features are Duane anomaly and radial ray malformations. Each feature appears in 65% and 91% of cases respectively.
Duane Anomaly
Also known as Duane syndrome, Duane anomaly is a congenital strabismus syndrome that is characterized by certain eye movements. This results from improper nerve development for eye movement.The following are characteristics of Duane anomaly:
Inability to fully abduct (away from the midline) the eye either unilaterally or bilaterally
Narrowing of the palpebral fissure
Retraction of the globe on adduction (toward the midline)
Absence of the abducens nucleus and nerve (cranial nerve VI)
Abnormal eye movement due to the lateral rectus muscle being innervated by a branch of the oculomotor nerve (cranial nerve III)
Radial Ray Malformations
This is characterized by hand and arm abnormalities. The following are specific characteristics:
Malformed or absent (aplasia) thumb
A thumb that looks more like a finger
Partial or complete absence of a radius
Shortening and radial deviation of the forearms
Triphalangeal thumb
Duplication of the thumb (preaxial polydactyly)
Other Various Symptoms
People with the combination of Duane anomaly and radial ray malformations may have a variety of other signs and symptoms. These features include:
Unusually shaped ears
Hearing loss
Heart and kidney defects
A distinctive facial appearance
An inward- and downward-turning foot (a clubfoot)
Fused vertebrae.
Causes
Genetics
Duane-radial ray syndrome is caused by mutations in the SALL4 gene which is a part of a group of genes called the SALL family. This gene plays an important role in embryonic development by providing instructions to make proteins that are involved in the formation of tissues and organs. SALL proteins act as transcription factors in that they attach themselves to certain regions in DNA in order to help control certain gene activities. Due to the mutations in the SALL4 gene, proteins can not be made because one copy of the gene in each cell is stopped from performing its duty. These mutations are heterozygous and can be nonsense, short duplications, or deletions. At this time, there is no clear reason as to why a reduced amount of the SALL4 protein causes the symptoms of Duane-radial ray syndrome and similar conditions.Duane-radial ray syndrome is inherited through autosomal dominance meaning that a mutation in one copy of the SALL 4 gene is all it takes to cause this syndrome. Those with this condition can have affected parents, but it can also manifest for the first time with no family history which is called de novo. Since Duane-radial ray syndrome is an autosomal dominant disorder, there is a 50% chance of passing the mutation on to offspring.
Mechanism
The mechanism for this disorder is somewhat unclear. What is known is that Duane-radial ray syndrome begins with mutations in the SALL4 gene. Due to these mutations, the proteins involved in embryonic development for making tissues and organs are not functioning properly. These proteins then cause improper development of bones (e.g. absence of the radius), abnormal eye movements, and other miscellaneous symptoms.
Diagnosis
The diagnosis for this syndrome is based on clinical findings on a physical exam and the presence of a heterozygous SALL4 pathogenic variant. During the physical exam, Duane-radial ray syndrome is clinically established by the following clinical findings:
Duane Anomaly
Limitation of abduction of the eye
Retraction of the globe
Narrowing of the palpebral fissure during adduction
Radial Ray Malformations
Malformed, absent, or extra thumb
A thumb that looks more like a finger
Duplication of the thumb (preaxial polydactyly)
Deformity of the arm due to a lack of the radius
Any of the symptoms above that can observed
Hearing loss
Clubfoot
Unusually shaped ears
Related conditions
The varied signs and symptoms of Duane-radial ray syndrome often overlap with features of other disorders.
For example, acro-renal-ocular syndrome is characterized by Duane anomaly and other eye abnormalities, radial ray malformations, and kidney defects. Both conditions can be caused by mutations in the same gene. Based on these similarities, researchers are investigating whether Duane-radial ray syndrome and acro-renal-ocular syndrome are separate disorders or part of a single syndrome with many possible signs and symptoms.
The features of Duane-radial ray syndrome also overlap with those of a condition called Holt-Oram syndrome; however, these two disorders are caused by mutations in different genes.
Evaluations after Initial Diagnosis
Evaluations by certain specialists should be performed following the initial diagnosis of Duane-radial ray syndrome. These evaluations will be used to determine the extent of the disease as well as the needs of the individual.
Eyes - Complete eye exam by an optometrist or ophthalmologist especially focusing on the extraocular movements of the eye and the structural eye defects
Heart - evaluation by a cardiologist along with an echocardiogram and ECG
Kidneys - Laboratory tests to check kidney function and a renal ultrasound
Hearing
Endocrine - evaluation for growth hormone deficit if growth retardation present
Blood - CBC to check for thrombocytopenia and leukocytosis
Clinical genetics consultation
Testing
Since Duane-radial ray syndrome is a genetic disorder, a genetic test would be performed. One test that can be used is the SALL4 sequence analysis that is used to detect if SALL4 is present. If there is no pathogenic variant observed, a deletion/duplication analysis can be ordered following the SALL4 sequence analysis. As an alternative, another genetic test called a multi-gene panel can be ordered to detect SALL4 and any other genes of interest. The methods used for this panel vary depending on the laboratory.
Imaging
MRI imaging can be used to detect whether the abducens nerve is present.
Treatment
Typically, treatment for this condition requires a team of specialists and surgery. Below are the treatments based on the symptom.
Duane Anomaly
Surgery for correction of severe strabismus
Radial Ray Malformations
Surgery for correction of severe malformations of the forearms
Construction of a functional thumb via surgery if aplasia of the thumb is present
Heart defects
If a congenital heart defect is present, cardiac surgery may be necessary
If a severe heart block is present, a pacemaker may have to be implanted
Antiarrhythmic medications and surgery as necessitated by a cardiologist
Hearing deficits
Hearing aids
Growth Retardation
Growth hormone therapy
Recent Research
There is currently recruitment for a clinical trial at Bostons Children Hospital.
References
External links
Duane-radial ray syndrome at NLM Genetics Home Reference |
Intraneural perineurioma | An intraneural perineurioma is a rare benign tumor within the sheath of a single nerve that grows but typically does not recur or metastasize. These lesions are only composed of perineurial cells, cloned from a single cell. They are distinct from schwannoma and neurofibroma.
Intraneural perineurioma is a neoplastic proliferation of perineurial cells with unique immunohistochemistry and ultrastructural features, and it is distinct from other onion bulb Schwann cell-derived entities. Despite harboring molecular abnormalities of the long arm of chromosome 22, intraneural perineurioma has not been associated with neurofibromatosis.Due to the involvement of one or more nerve fascicles, intraneural perineuriomas are distinguished by a localized, solitary expansion of peripheral nerves. These tumors develop slowly or stay stable over time.
References
Further reading
Macarenco RS, Ellinger F, Oliveira AM (2007). "Perineurioma: a distinctive and underrecognized peripheral nerve sheath neoplasm". Archives of Pathology & Laboratory Medicine. 131 (4): 625–36. doi:10.1043/1543-2165(2007)131[625:PADAUP]2.0.CO;2. PMID 17425397.
Kum YS, Kim JK, Cho CH, Kim HK (2009). "Intraneural reticular perineurioma of the hypoglossal nerve". Head Neck. 31 (6): 833–7. doi:10.1002/hed.20965. PMID 18972430.
Chung JH, Jeong SH, Dhong ES, Han SK (2014). "Surgical removal of intraneural perineurioma arising in the brachial plexus using an interfascicular dissection technique". Arch Plast Surg. 41 (3): 296–9. doi:10.5999/aps.2014.41.3.296. PMC 4037780. PMID 24883285.
Emory TS, Scheithauer BW, Hirose T, Wood M, Onofrio BM, Jenkins RB (1995). "Intraneural perineurioma. A clonal neoplasm associated with abnormalities of chromosome 22". Am J Clin Pathol. 103 (6): 696–704. doi:10.1093/ajcp/103.6.696. PMID 7785653. |
Oral and maxillofacial pathology | Oral and maxillofacial pathology refers to the diseases of the mouth ("oral cavity" or "stoma"), jaws ("maxillae" or "gnath") and related structures such as salivary glands, temporomandibular joints, facial muscles and perioral skin (the skin around the mouth). The mouth is an important organ with many different functions. It is also prone to a variety of medical and dental disorders.The specialty oral and maxillofacial pathology is concerned with diagnosis and study of the causes and effects of diseases affecting the oral and maxillofacial region. It is sometimes considered to be a specialty of dentistry and pathology. Sometimes the term head and neck pathology is used instead, which may indicate that the pathologist deals with otorhinolaryngologic disorders (i.e. ear, nose and throat) in addition to maxillofacial disorders. In this role there is some overlap between the expertise of head and neck pathologists and that of endocrine pathologists.
Diagnosis
The key to any diagnosis is thorough medical, dental, social and psychological history as well as assessing certain lifestyle risk factors that may be involved in disease processes. This is followed by a thorough clinical investigation including extra-oral and intra-oral hard and soft tissues.It is sometimes the case that a diagnosis and treatment regime are possible to determine from history and examination, however it is good practice to compile a list of differential diagnoses. Differential diagnosis allows for decisions on what further investigations are needed in each case.There are many types of investigations in diagnosis of oral and maxillofacial diseases, including screening tests, imaging (radiographs, CBCT, CT, MRI, ultrasound) and histopathology (biopsy).
Biopsy
A biopsy is indicated when the patients clinical presentation, past history or imaging studies do not allow a definitive diagnosis. A biopsy is a surgical procedure that involves the removal of a piece of tissue sample from the living organism for the purpose of microscopic examination. In most cases, biopsies are carried out under local anaesthesia. Some biopsies are carried out endoscopically, others under image guidance, for instance ultrasound, computed tomography (CT) or magnetic resonance imaging (MRI) in the radiology suite. Examples of the most common tissues examined by means of a biopsy include oral and sinus mucosa, bone, soft tissue, skin and lymph nodes.Types of biopsies typically used for diagnosing oral and maxillofacial pathology are:
Excisional biopsy: A small lesion is totally excised. This method is preferred, if the lesions are approximately 1 cm or less in diameter, clinically and seemingly benign and surgically accessible. Large lesions which are more diffused and dispersed in nature or those which are seemed to be more clinically malignant are not conducive to total removal.Incisional biopsy: A small portion of the tissue is removed from an abnormal-looking area for examination. This method is useful in dealing with large lesions. If the abnormal region is easily accessed, the sample may be taken at your doctors office. If the tumour is deeper inside the mouth or throat, the biopsy may need to be performed in an operating room. General anaesthesia is administered to eliminate any pain.Exfoliative cytology: A suspected area is gently scraped to collect a sample of cells for examination. These cells are placed on a glass slide and stained with dye, so that they can be viewed under a microscope. If any cells appear abnormal, a deeper biopsy will be performed.
Diseases
Oral and maxillofacial pathology can involve many different types of tissues of the head. Different disease processes affect different tissues within this region with various outcomes. A great many diseases involve the mouth, jaws and orofacial skin. The following list is a general outline of pathologies that can affect oral and maxillofacial region; some are more common than others. This list is by no means exhaustive.
Congenital
Malocclusion
Cleft lip and palate
Cleft lip and palate is one of the most common occurring multi-factorial congenital disorder occurring in 1 in 500-1000 live births in several forms. The most common form is combined cleft lip and palate and it accounts for approximately 50% of the cases whereas isolated cleft lip concerns 20% of the patients.People with cleft, lip and palate malformation tend to be less social and report lower self-esteem, anxiety and depression related to their facial malformation. One of the major goals in the treatment of patients with cleft is to enhance social acceptance by surgical reconstruction.
A cleft lip is an opening of the upper lip mainly due to the failure of fusion of the medial nasal processes with the palatal processes, a cleft palate is the opening of the soft and hard palate in the mouth which is due to the failure of the palatal shelves to fuse together.The palates main function is to demarcate the nasal and oral cavity, without which the patient will have problems with swallowing, eating and speech. Thus affecting the quality of life and in some cases certain functions.Some examples include food going up into the nasal cavity during swallowing as the soft palate is not present to close the cavity during the process. Speech is also affected as the nasal cavity is a source of resonance during speech and failure to manipulate spaces in the cavities will result in the lack of ability to produce certain consonants in audible language.
Macroglossia
Is a rare condition, categorised by tongue enlargement which will eventually create a crenated border in relation to the embrasures between the teeth.
Hereditary Cause
Vascular malformations
Down syndrome
Beckwith-Wiedemann syndrome
Duchenne muscular dystrophy
Neurofibromatosis type Is
Acquired Causes
Carcinoma
Lingual Thyroid
Myxedema
Amyloidosis
Consequences
Noisy breaths, obstructs airway if severe
Drooling
Difficult in eating
Lisping speech
Open-bite
Protruding tongue, may ulcerate and undergo necrosis
Treatments
For mild cases, surgical treatment is not mandatory but if speech is affected, speech therapy may be useful. Reduction glossectomy may be required for severe cases.
Ankyloglossia
Stafne defect
Torus palatinus
Torus mandibularis
Eagle syndrome,
Is a condition where there is an abnormal ossification of the stylohyoid ligament. This leads to an increase in the thickness and the length of the stylohyoid process and the ligament. Pain is felt due to the pressure applied to the internal jugular vein. Eagle syndrome occurs due to elongation of the styloid process or calcification of the stylohyoid ligament. However, the cause of the elongation has not been known clearly. It could occur spontaneously or could arise since birth. Usually normal stylohyoid process is 2.5–3 cm in length, if the length is longer than 3 cm, it is classified as an elongated stylohyoid process.
Acquired
Vascular
Infective
Bacterial
(Plaque-induced) gingivitis—A common periodontal (gum) disease is Gingivitis. Periodontal refers to the area the infection affects, which include the teeth, gums, and tissues surrounding the teeth. Bacteria cause inflammation of the gums which become red, swollen and can bleed easily. The bacteria along with mucus form a sticky colorless substance called plaque which harbours the bacteria. Plaque that is not removed by brushing and flossing hardens to form tartar that brushing doesnt clean. Smoking is a major risk factor. Treatment of gingivitis is dependent on how severe and how far the disease has progressed. If the disease is not too severe it is possible to treat it with chlorhexidine rinse and brushing with fluoride toothpaste to kill the bacteria and remove the plaque, but once the infection has progressed antibiotics may be needed to kill the bacteria.
Periodontitis—When gingivitis is not treated it can advance to periodontitis, when the gums pull away from the teeth and form pockets that harbor the bacteria. Bacterial toxins and the bodys natural defenses start to break down the bone and connective tissues. The tooth may eventually become loose and have to be removed.
Scarlet fever is caused by a particular streptococci species, Streptococci Pyogenes, and is classified be a severe form of bacterial sore throat. The condition involves the release of pyrogenic and erythrogenic endotoxins from the immune system. It starts as tonsilitis and pharyngitis before involving the soft palate and the tongue. It usually occurs in children where a fever occurs and an erythematous rash develops on the face and spreads to most part of the body. If not treated, late stages of this condition may include a furred, raw, red tongue. Treatment options include penicillin and the prognosis is generally excellent.Viral
Herpes simplex (infection with herpes simplex virus, or HSV) is very common in the mouth and lips. This virus can cause blisters and sores around the mouth (herpetic gingivostomatitis) and lips (herpes labialis). HSV infections tend to recur periodically. Although many people get infected with the virus, only 10% actually develop the sores. The sores may last anywhere from 3–10 days and are very infectious. Some people have recurrences either in the same location or at a nearby site. Unless the individual has an impaired immune system, e.g., owing to HIV or cancer-related immune suppression, recurrent infections tend to be mild in nature and may be brought on by stress, sun, menstrual periods, trauma or physical stress.
Mumps of the salivary glands is a viral infection of the parotid glands. This results in painful swelling at the sides of the mouth in both adults and children, which leads to a sore throat, and occasionally pain in chewing. The infection is quite contagious. Today mumps is prevented by getting vaccinated in infancy, by a "Measles, Mumps, Rubella" (MMR) vaccination and subsequent boosters. There is no specific treatment for mumps except for hydration and painkillers with complete recovery ranging from 5–10 days. Sometimes mumps can cause inflammation of the brain, pancreatitis, testicular swelling or hearing loss.Fungal
Oral candidiasis is by far the most common fungal infection that occurs in the mouth. It usually occurs in immunocompromised individuals. Individuals who have undergone a transplant, HIV, cancer or use corticosteroids commonly develop candida of the mouth and oral cavity. Other risk factors are dentures and tongue piercing. The typical signs are a white patch that may be associated with burning, soreness, irritation or a white cheesy like appearance. Once the diagnosis is made, candida can be treated with a variety of anti fungal drugs.
Traumatic
Chemical, thermal, mechanical or electrical trauma to the oral soft tissues can cause traumatic oral ulceration.
Autoimmune
Sjögren syndrome is an autoimmune chronic inflammatory disorder characterised by some of the bodys own immune cells infiltrating and destroying lacrimal and salivary glands (and other exocrine glands). There are two types of Sjögrens syndrome: primary and secondary. In primary Sjögrens syndrome (pSS) individuals have dry eyes (keratoconjunctivitis sicca) and a dry mouth (xerostomia). Based on a meta-analysis, the prevalence of pSS worldwide is estimated to 0.06%, with 90% of the patients being female. In secondary Sjögrens syndrome (sSS), individuals have a dry mouth, dry eyes and a connective tissue disorder such as rheumatoid arthritis (prevalence 7% in the UK), systemic lupus erythematosus (prevalence 6.5%–19%) and systemic sclerosis (prevalence 14%–20.5%). Additional features and symptoms include:
Erythema and lobulation of the tongue
Oral discomfort
Difficulty in swallowing and talking
Altered taste
Poor retention of dentures (if worn)
Oral fungal and bacterial infections
Salivary glands swelling
Dryness of skin; nose; throat; vagina
Peripheral neuropathies
Pulmonary; thyroid; and renal disorders;
Arthralgias and myalgias;Tests used to diagnose Sjögrens syndrome include:
tear break-up time and Schirmer tests
a minor salivary gland biopsy taken from the lip
blood tests
salivary flow rateThere is no cure for Sjogrens syndromeis disease however there are treatments used to help with the associated symptoms.
Eye care: artificial tears, moisture chamber spectacles, punctal plugs, pilocarpine medication
Mouth care: increase oral intake, practice good oral hygiene, use sugar free gum (to increase saliva flow), regular use of mouth rinses, pilocarpine medication, reduce alcohol intake and smoking cessation. Saliva substitutes are also available as a spray, gel, gum or in the form of a medicated sweet
Dry skin: creams, moisturising soaps
Vaginal dryness: lubricant, oestrogen creams, hormonal replacement therapy
Muscle and joint pains: Non-steroidal anti-inflammatory drugsComplications of Sjogrens syndrome include ulcers that can develop on the surface of the eyes if the dryness is not treated. These ulcers can then cause more worrying issues such as loss of eye sight and life long damage. Individuals with Sjögrens syndrome have a slightly increased risk of developing non-Hodgkin Lymphoma, a type of cancer. Other conditions such as peripheral neuropathy, Raynauds phenomenon, kidney problems, underactive thyroid gland and irritable bowel syndrome have been linked to Sjogrens syndrome
Metabolic
Inflammatory
Angioedema
Neurological
Neoplastic
Oral cancer may occur on the lips, tongue, gums, floor of the mouth or inside the cheeks. The majority of cancers of the mouth are squamous cell carcinoma. Oral cancers are usually painless in the initial stages or may appear like an ulcer. Causes of oral cancer include smoking, excessive alcohol consumption, exposure to sunlight (lip cancer), chewing tobacco, infection with human papillomavirus, and hematopoietic stem cell transplantation. The earlier the oral cancer is diagnosed, the better the chances for full recovery. If you have a suspicious mass or ulcer on the mouth which has been persistent, then you should always get a dentist to look at it. Diagnosis is usually made with a biopsy and the treatment depends on the exact type of cancer, where it is situated, and extent of spreading.
Degenerative
Environmental
Unknown
There are many oral and maxillofacial pathologies which are not fully understood.
Burning mouth syndrome (BMS) is a disorder where there is a burning sensation in the mouth that has no identifiable medical or dental cause. The disorder can affect anyone but tends to occur most often in middle aged women. BMS has been hypothesized to be linked to a variety of factors such as the menopause, dry mouth (xerostomia) and allergies. BMS usually lasts for several years before disappearing for unknown reasons. Other features of this disorder include anxiety, depression and social isolation. There is no cure for this disorder and treatment includes use of hydrating agents, pain medications, vitamin supplements or the usage of antidepressants.
Aphthous stomatitis is a condition where ulcers (canker sores) appear on the inside of the mouth, lips and on tongue. Most small canker sores disappear within 10–14 days. Canker sores are most common in young and middle aged individuals. Sometimes individuals with allergies are more prone to these sores. Besides an awkward sensation, these sores can also cause pain or tingling or a burning sensation. Unlike herpes sores, canker sores are always found inside the mouth and are usually less painful. Good oral hygiene does help but sometime one may have to use a topical corticosteroid.
Migratory stomatitis is a condition that involves the tongue and other oral mucosa. The common migratory glossitis (geographic tongue) affects the anterior two thirds of the dorsal and lateral tongue mucosa of 1% to 2.5% of the population, with one report of up to 12.7% of the population. The tongue is often fissured, especially. in elderly individuals. In the American population, a lower prevalence was reported among Mexican Americans (compared with Caucasians and African Americans) and cigarette smokers. When other oral mucosa, beside the dorsal and lateral tongue, are involved, the term migratory stomatitis (or ectopic geographic tongue) is preferred. In this condition, lesions infrequently involve also the ventral tongue and buccal or labial mucosa. They are rarely reported on the soft palate and floor of the mouth.
Specialty
Oral and maxillofacial pathology, previously termed oral pathology, is a speciality involved with the diagnosis and study of the causes and effects of diseases affecting the oral and maxillofacial regions (i.e. the mouth, the jaws and the face). It can be considered a speciality of dentistry and pathology. Oral pathology is a closely allied speciality with oral and maxillofacial surgery and oral medicine.
The clinical evaluation and diagnosis of oral mucosal diseases are in the scope of oral & maxillofacial pathology specialists and oral medicine practitioners, both disciplines of dentistry.
When a microscopic evaluation is needed, a biopsy is taken, and microscopically observed by a pathologist. The American Dental Association uses the term oral and maxillofacial pathology, and describes it as "the specialty of dentistry and pathology which deals with the nature, identification, and management of diseases affecting the oral and maxillofacial regions. It is a science that investigates the causes, processes and effects of these diseases."In some parts of the world, oral and maxillofacial pathologists take on responsibilities in forensic odontology.
Geographic variation
United Kingdom
There are approximately 30 consultant oral and maxillofacial pathologists in the UK. A dental degree is mandatory, but a medical degree is not. The shortest pathway to becoming an oral pathologist in the UK is completion of 2 years general professional training and then 5 years in a diagnostic histopathology training course. After passing the required Royal College of Pathologists exams and gaining a Certificate of Completion of Specialist Training, the trainee is entitled to apply for registration as a specialist. Many oral and maxillofacial pathologists in the UK are clinical academics, having undertaken a PhD either prior to or during training. Generally, oral and maxillofacial pathologists in the UK are employed by dental or medical schools and undertake their clinical work at university hospital departments.
New Zealand
There are 5 practising Oral Pathologists in New Zealand (as of May 2013). Oral pathologists in New Zealand also take part in forensic evaluations.
See also
Tongue disease
Salivary gland disease
Head and neck cancer
Oral surgery
Tooth pathology
References
Further reading
Fechner RE (2002). "A Brief History of Head and Neck Pathology". Modern Pathology. 15 (3): 221–228. doi:10.1038/modpathol.3880519. PMID 11904339.
External links
Media related to Diseases and disorders of oral cavity, salivary glands and jaws at Wikimedia Commons
British Society of Oral & Maxillo-facial Pathologists Website
Academy of Oral and Maxillofacial Pathology Website |
Coenurosis | Coenurosis, also known as caenurosis, coenuriasis, gid or sturdy, is a parasitic infection that develops in the intermediate hosts of some tapeworm species (Taenia multiceps, T. serialis, T. brauni, or T. glomerata). It is caused by the coenurus, the larval stage of these tapeworms. The disease occurs mainly in sheep and other ungulates, but it can also occur in humans by accidental ingestion of tapeworm eggs.
Adult worms of these species develop in the small intestine of the definitive hosts (dogs, foxes and other canids), causing a disease from the group of taeniasis. Humans cannot be definitive hosts for these species of tapeworms.
History
The texts of Hippocrates describe a nervous disease of sheep consistent with the symptoms of gid, comparing its symptoms to epilepsy and describing the accumulation of bad-smelling fluid in the brain. However, it was only in the 1600s that clearer behavioural and necropsy descriptions were recorded, including the chacteristic brain cysts and early surgical methods of removal. The cause of these cysts was identified as an animal parasite in 1780 by Nathanael Gottfried Leske and Johann August Ephraim Goeze. It was shown that the parasite could be transferred across species to and from dogs by Karl Theodor Ernst von Siebold and Friedrich Küchenmeister in the 1850s and the species was identified as Taenia multiceps (then called Coenurus cerebralis) in 1890.Coenurosis in humans is rare and was not diagnosed until the twentieth century, with the first recorded cases by each Taenia species being: T. multiceps in 1913, T. glomerate in 1919, T. serialis in 1933, and T. brauni in 1956.
Life cycle
The eggs of T.multiceps, T. glomerate, T. serialis, and T. brauni are shed in the feces of infected hosts into the environment. The eggs are then ingested by an intermediate host, where the eggs hatch in intestines and release oncospheres. Oncospheres are the larval form of tapeworms that contain hooks for attaching to the host’s tissues. The oncospheres continue to move through the bloodstream of the intermediate host until they find suitable organs to inhabit. The oncospheres can bind to the eyes, the brain, skeletal muscle, and subcutaneous tissue. Once the oncospheres reach their destination, they take about three months to develop into coneuri. Coenuri are white, fluid filled structures that are 3-10 centimeters in diameter. Coenuri have a collapsed membrane and several protoscolices on the interior. The coenuri cysts found in the central nervous system have multiple cavities, and those that are not have only one cavity. The disease is transferred to the definitive host when the host digests the tissue of the intermediate host. Next, eggs hatch in the intestine of the definitive host and circulate in the bloodstream until they reach suitable organs.
Symptoms and diagnosis
The symptoms for coenurosis vary depending on where the cyst is located.
Prevention and treatment
In sheep, the usual treatment is surgical trepanation to remove the brain cyst, one of the few economically viable surgeries in farm animals. The site of the cyst can usually be estimated based on the neurological symptoms and skull thinning. Treated sheep typically regain sufficient function to rejoin the flock and necropsy indicates that the site of the cyst collapses and scars, relieving pressure on the brain.In the rare cases where a human is infected, both surgical and pharmaceutical treatments are available. Since the disease is so uncommon in humans, no vaccine has been developed for it.
Epidemiology
T. multiceps is commonly found in France, England, Brazil, Africa, and the United States.
T. serialis is found in Canada and the United States
T. brauni is found in North America, Rwanda, and the Republic of Congo
T. glomerata is found in Nigeria and the Republic of Congo
Hosts
The definitive hosts for coenurosis are dogs, foxes, and other canids. The intermediate hosts for coenurosis can vary depending on the Taenia spp. In T. multiceps, sheep are the intermediate hosts, but goats, cattle, horses, and antelopes are also common hosts. T. multiceps can affect any tissue, but it normally targets the brain in animal hosts. In T. serialis, rabbits and rodents are the intermediate hosts. T. serialis commonly targets subcutaneous and intramuscular tissue. In T. brauni and T. glomerata, gerbils are the intermediate host. T. brauni and T. glomerate larvae tend to inhabit the muscles. Intermediate hosts can be infected with either chronic or acute coenurosis. Chronic coenurosis is the more common form, and it occurs primarily in young sheep.
In wild animals
Although coenurosis is more commonly associated with domestic animals, it has also been documented in wildlife, such as in mountain ungulates in the French Alps. It is believed that the ungulates are being contaminated by infected sheep. Understanding how this disease is transmitted from sheep to wild animals is important in managing the spread of this potentially dangerous zoonotic disease. A potential management strategy would be for farmers to dispose of animal carcasses found on their land. In Ethiopia, gelada monkeys with coenurosis were found to have higher mortality and lower reproductive success.
See also
Coenurosis in humans
Taeniasis
References
External links
Stanford University: Coenurosis |
Myiasis | Myiasis is the parasitic infestation of the body of a live animal by fly larvae (maggots) which grow inside the host while feeding on its tissue. Although flies are most commonly attracted to open wounds and urine- or feces-soaked fur, some species (including the most common myiatic flies—the botfly, blowfly, and screwfly) can create an infestation even on unbroken skin and have been known to use moist soil and non-myiatic flies (such as the common housefly) as vector agents for their parasitic larvae.
Because some animals (particularly non-native domestic animals) cannot react as effectively as humans to the causes and effects of myiasis, such infestations present a severe and continuing problem for livestock industries worldwide, causing severe economic losses where they are not mitigated by human action. Although typically a far greater issue for animals, myiasis is also a relatively frequent disease for humans in rural tropical regions where myiatic flies thrive, and often may require medical attention to surgically remove the parasites.Myiasis varies widely in the forms it takes and its effects on those affected. Such variations depend largely on the fly species and where the larvae are located. Some flies lay eggs in open wounds, other larvae may invade unbroken skin or enter the body through the nose or ears, and still others may be swallowed if the eggs are deposited on the lips or on food. There can also be accidental myiasis which E. tenax can cause in humans via water containing the larvae or in contaminated uncooked food. The name of the condition derives from ancient Greek μυῖα (myia), meaning "fly".
Signs and symptoms
How myiasis affects the human body depends on where the larvae are located. Larvae may infect dead, necrotic (prematurely dying) or living tissue in various sites: the skin, eyes, ears, stomach and intestinal tract, or in genitourinary sites. They may invade open wounds and lesions or unbroken skin. Some enter the body through the nose or ears. Larvae or eggs can reach the stomach or intestines if they are swallowed with food and cause gastric or intestinal myiasis.Several different presentations of myiasis and their symptoms:
Wound
Wound myiasis occurs when fly larvae infest open wounds. It has been a serious complication of war wounds in tropical areas, and is sometimes seen in neglected wounds in most parts of the world. Predisposing factors include poor socioeconomic conditions, extremes of age, neglect, mental disability, psychiatric illness, alcoholism, diabetes, and vascular occlusive disease.
Eye
Myiasis of the human eye or ophthalmomyiasis can be caused by Hypoderma tarandi, a parasitic botfly of caribou. It is known to lead to uveitis, glaucoma, and retinal detachment. Human ophthalmomyiasis, both external and internal, has been caused by the larvae of the botfly.
Cause
Life cycle
The life cycle in sheep is typical of the disease. The female flies lay their eggs on the sheep in damp, protected areas of the body that are soaked with urine and feces, mainly the sheeps breech (buttocks). It takes approximately eight hours to a day for the eggs to hatch, depending on the conditions. Once hatched, the larvae then lacerate the skin with their mouthparts, causing open sores. Once the skin has been breached, the larvae then tunnel through the sores into the hosts subcutaneous tissue, causing deep and irritating lesions highly subject to infection. After about the second day, bacterial infection is likely and, if left untreated, causes bacterial bloodstream infections or sepsis. This leads to anorexia and weakness and is generally fatal if untreated.
Human vectors
There are three main fly families causing economically important myiasis in livestock and also, occasionally, in humans:
Calliphoridae (blowflies)
Some examples include Calliphora vomitoria and Calliphora vicina
Oestridae (botflies)
Sarcophagidae (fleshflies) Sarcophaga barbata are usually found in dead and rotting meat and animal excrement, which are prime environments for them. This is because their larvae are facultative parasites, as they feed on organic tissue and use the hosts oxygen reserve.Other families occasionally involved are:
Anisopodidae
Piophilidae
Stratiomyidae
Syrphidae
Specific myiasis
Caused by flies that need a host for larval development
Dermatobia hominis (human botfly)
Cordylobia anthropophaga (tumbu fly)
Oestrus ovis (sheep botfly)
Hypoderma spp. (cattle botflies or ox warbles)
Gasterophilus spp. (horse botfly)
Cochliomyia hominivorax (new world screwworm fly)
Chrysomya bezziana (old world screwworm fly)
Auchmeromyia senegalensis (Congo floor maggot)
Cuterebra spp. (rodent and rabbit botfly)
Semispecific myiasis
Caused by flies that usually lay their eggs in decaying animal or vegetable matter, but that can develop in a host if open wounds or sores are present
Lucilia spp. (green-bottle fly)
Cochliomyia spp. (screw-worm fly)
Phormia spp. (black-bottle fly)
Calliphora spp. (blue-bottle fly)
Sarcophaga spp. (flesh fly or sarcophagids)Flesh flies, or sarcophagids, members of the family Sarcophagidae, can cause intestinal myiasis in humans if the females lay their eggs on meat or fruit.
Accidental myiasis
Also called pseudomyiasis. Caused by flies that have no preference or need to develop in a host but that will do so on rare occasions. Transmission occurs through accidental deposit of eggs on oral or genitourinary openings, or by swallowing eggs or larvae that are on food. The cheese fly (Piophila casei) sometimes causes myiasis through intentional consumption of its maggots (which are contained in the traditional Sardinian delicacy casu marzu). Other flies that can accidentally cause myiasis are:
Musca domestica (housefly)
Fannia spp. (latrine flies)
Eristalis tenax (rat-tailed maggots)
Muscina spp.The adult flies are not parasitic, but when they lay their eggs in open wounds and these hatch into their larval stage (also known as maggots or grubs), the larvae feed on live or necrotic tissue, causing myiasis to develop. They may also be ingested or enter through other body apertures.
Diagnosis
Myiasis is often misdiagnosed in the United States because it is rare and its symptoms are not specific. Intestinal myiasis and urinary myiasis are especially difficult to diagnose.Clues that myiasis may be present include recent travel to an endemic area, one or more non-healing lesions on the skin, itchiness, movement under the skin or pain, discharge from a central punctum (tiny hole), or a small, white structure protruding from the lesion. Serologic testing has also been used to diagnose the presence of botfly larvae in human ophthalmomyiasis.
Classifications
German entomologist Fritz Zumpt describes myiasis as "the infestation of live human and vertebrate animals with dipterous larvae, which at least for a period, feed on the hosts dead or living tissue, liquid body substances, or ingested food". For modern purposes however, this is too vague. For example, feeding on dead or necrotic tissue is not generally a problem except when larvae such as those of flies in the family Piophilidae attack stored food such as cheese or preserved meats; such activity suggests saprophagy rather than parasitism; it even may be medically beneficial in maggot debridement therapy (MDT).Currently myiasis commonly is classified according to aspects relevant to the case in question:
The classical description of myiasis is according to the part of the host that is infected. This is the classification used by ICD-10. For example:dermal
sub-dermal
cutaneous (B87.0)
creeping, where larvae burrow through or under the skin
furuncular, where a larva remains in one spot, causing a boil-like lesion
nasopharyngeal, in the nose, sinuses or pharynx (B87.3)
ophthalmic or ocular, in or about the eye (B87.2)
auricular, in or about the ear
gastric, rectal, or intestinal/enteric for the appropriate part of the digestive system (B87.8)
urogenital (B87.8)
Another aspect is the relationship between the host and the parasite and provides insight into the biology of the fly species causing the myiasis and its likely effect. Thus the myiasis is described as either:obligatory, where the parasite cannot complete its life cycle without its parasitic phase, which may be specific, semispecific, or opportunistic
facultative, incidental, or accidental, where it is not essential to the life cycle of the parasite; perhaps a normally free-living larva accidentally gained entrance to the hostAccidental myiasis commonly is enteric, resulting from swallowing eggs or larvae with ones food. The effect is called pseudomyiasis. One traditional cause of pseudomyiasis was the eating of maggots of cheese flies in cheeses such as Stilton. Depending on the species present in the gut, pseudomyiasis may cause significant medical symptoms, but it is likely that most cases pass unnoticed.
Prevention
The first control method is preventive and aims to eradicate the adult flies before they can cause any damage and is called vector control. The second control method is the treatment once the infestation is present, and concerns the infected animals (including humans).The principal control method of adult populations of myiasis inducing flies involves insecticide applications in the environment where the target livestock is kept. Organophosphorus or organochlorine compounds may be used, usually in a spraying formulation. One alternative prevention method is the sterile insect technique (SIT) where a significant number of artificially reared sterilized (usually through irradiation) male flies are introduced. The male flies compete with wild breed males for females in order to copulate and thus cause females to lay batches of unfertilized eggs which cannot develop into the larval stage.One prevention method involves removing the environment most favourable to the flies, such as by removal of the tail. Another example is the crutching of sheep, which involves the removal of wool from around the tail and between the rear legs, which is a favourable environment for the larvae. Another, more permanent, practice which is used in some countries is mulesing, where skin is removed from young animals to tighten remaining skin – leaving it less prone to fly attack.To prevent myiasis in humans, there is a need for general improvement of sanitation, personal hygiene, and extermination of the flies by insecticides. Clothes should be washed thoroughly, preferably in hot water, dried away from flies, and ironed thoroughly. The heat of the iron kills the eggs of myiasis-causing flies.
Treatment
This applies once an infestation is established. In many circles the first response to cutaneous myiasis once the breathing hole has formed, is to cover the air hole thickly with petroleum jelly. Lack of oxygen then forces the larva to the surface, where it can more easily be dealt with. In a clinical or veterinary setting there may not be time for such tentative approaches, and the treatment of choice might be more direct, with or without an incision. First the larva must be eliminated through pressure around the lesion and the use of forceps. Secondly the wound must be cleaned and disinfected. Further control is necessary to avoid further reinfestation.Livestock may be treated prophylactically with slow-release boluses containing ivermectin, which can provide long-term protection against the development of the larvae. Sheep also may be dipped, a process which involves drenching the animals in persistent insecticide to poison the larvae before they develop into a problem.
Epidemiology
The most common infected animal worldwide is the domestic sheep, for more information see fly strike in sheep. This condition is caused by the blowfly (particularly Lucilia sericata and its sister species L. cuprina), especially where the weather is often hot and wet. Blowfly strike accounts for over A$170 million a year in losses in the Australian sheep industry, the largest such losses in the world. Given the seriousness of the risk, Australian sheep farmers commonly perform preventive measures such as mulesing designed to remove the most common targets for the flies. The docking of lambs tails (another frequently-soiled area that flies target) is also commonly practiced by sheep farmers worldwide. Maggots also occasionally infest the vulvar area, causing the condition called vulvar myiasis.
Such problems are not peculiar to Australia and New Zealand; they occur worldwide, especially in countries where livestock, particularly sheep, are kept under hot, wet, conditions, including most of Africa and the Americas, ranging from the cold temperate regions in the north, to corresponding latitudes in the south. Myiasis is also not restricted to sheep; screwworm flies (Cochliomyia hominivorax in particular) regularly cause upwards of US$100 million in annual damages to domestic cows and goats, though the impact has been heavily mitigated in recent years by the sterile insect technique.
History
Frederick William Hope coined the term myiasis in 1840 to refer to diseases resulting from dipterous larvae as opposed to those caused by other insect larvae (the term for this was scholechiasis). Hope described several cases of myiasis from Jamaica caused by unknown larvae, one of which resulted in death.Even though the term myiasis was first used in 1840, such conditions have been known since ancient times. Ambroise Paré, the chief surgeon to King Charles IX and King Henry III, observed that maggots often infested open wounds.
Maggot therapy
Throughout recorded history, maggots have been used therapeutically to clean out necrotic wounds, an application known as maggot therapy.Fly larvae that feed on dead tissue can clean wounds and may reduce bacterial activity and the chance of a secondary infection. They dissolve dead tissue by secreting digestive enzymes onto the wound as well as actively eating the dead tissue with mouth hooks, two hard, probing appendages protruding on either side of the "mouth". Maggot therapy – also known as maggot debridement therapy (MDT), larval therapy, larva therapy, or larvae therapy – is the intentional introduction by a health care practitioner of live, disinfected green bottle fly maggots into the non-healing skin and soft tissue wounds of a human or other animal for the purpose of selectively cleaning out only the necrotic tissue within a wound in order to promote healing.Although maggot therapy has been used in the US for the past 80 years, it was approved by the FDA as a medical device only in 2004 (along with leeches). Maggots were the first live organism to be marketed in the US according to FDA regulations, and are approved for treating neuropathic (diabetic) foot ulcers, pressure ulcers, venous stasis ulcers, and traumatic and post-surgical wounds that are unresponsive to conventional therapies. Maggots were used in medicine before this time, but were not federally regulated. In 1990, California internist Ronald Sherman began treating patients with maggots produced at his lab at the UC Irvine School of Medicine. Sherman went on to co-found Monarch Labs in 2005, which UC Irvine contracted to produce maggots for Shermans own continuing clinical research on myiasis at the university. Monarch Labs also sells maggots to hospitals and other medical practices, the first US commercial supplier to do so since the last one closed in 1935.In the US, demand for these fly larvae doubled after the FDA ruling. Maggot therapy is now used in more than 300 sites across the country. The American Medical Association and Centers for Medicare and Medicaid Services recently clarified the reimbursement guidelines to the wound care community for medicinal maggots, and this therapy may soon be covered by insurance. The larvae of the green bottle fly (a type of blow-fly) are now used exclusively for this purpose, since they preferentially devour only necrotic tissue, leaving healthy tissue intact. This is an important distinction, as most other major varieties of myiasitic fly larvae attack both live and dead wound tissue indiscriminately, effectively negating their benefit in non-harmful wound debridement. Medicinal maggots are placed on the wound and covered with a sterile dressing of gauze and nylon mesh. However, too many larvae placed on the wound could result in healthy tissue being eaten, efficiently creating a new wound, rendering it as a type of myiasis.
History
Maggot therapy has a long history and prehistory. The indigenous people of Australia used maggot therapy, and so do the Hill Peoples of Northern Burma, and possibly the Mayans of Central America. Surgeons in Napoleons armies recognized that wounded soldiers with myiasis were more likely to survive than those without the infestation. In the American Civil War, army surgeons treated wounds by allowing blowfly maggots to clean away the decayed tissue.William Baer, an orthopedic surgeon at Johns Hopkins during the late 1920s, used maggot therapy to treat a series of patients with osteomyelitis, an infection of bone or bone marrow. The idea was based on an experience in World War I in which two soldiers presented to him with broken femurs after having lain on the ground for seven days without food and water. Baer could not figure out why neither man had a fever or signs of sepsis. He observed: "On removing the clothing from the wounded part, much was my surprise to see the wound filled with thousands and thousands of maggots, apparently those of the blow fly. The sight was very disgusting and measures were taken hurriedly to wash out these abominable looking creatures." However, he then saw that the wounds were filled with "beautiful pink granulation tissue" and were healing well.Maggot therapy was common in the United States during the 1930s. However, during the second half of the twentieth century, after the introduction of antibiotics, maggot therapy was used only as a last resort for very serious wounds. Lately maggots have been making a comeback due to the increased resistance of bacteria to antibiotics.
References
External links
Myiasis, reviewed and published by WikiVet
Exotic Myiasis, University of Sydney Department of Medical Entomology
Identification key to species of myiasis-causing fly larvae, Natural History Museum (London)
Parasitic Insects, Mites and Ticks: Genera of Medical and Veterinary Importance: Botflies |
Psychogenic pruritus | Psychogenic pruritus, also known as psychogenic itch or functional itch disorder is pruritus not associated with a dermatologic or systemic cause. More often than not, it is attributed to a psychiatric cause. Psychogenic pruritus is not the same as neuropathic itch though both are conditions which require more research. This condition is not explained well in DSM-V and is typically considered a diagnosis of exclusion. This condition is not well-studied and it is difficult to ascertain as it is seen by both dermatologists and psychiatrists. In order to provide some consensus to this condition, The French Psychodermatology Group have created diagnostic criteria for this condition.
Symptoms
Psychogenic pruritus typically appears as itching on the face and on the extensor surfaces of the body. This includes the back side of the arms, the abdomen, the side of the legs and the upper back and shoulders. These areas are more frequent because they are within hands reach.
Diagnosis
When considering the diagnosis of psychogenic pruritus, it is important to rule out medical, dermatologic and neuropathic causes. A strong history should be obtained and appropriate labwork should be drawn. One should consider drawing for a CBC (Complete Blood Count), ESR (Erythrocyte Sedimentation Rate), liver, renal and thyroid panel as abnormalities with any can contribute to pruritus. Pruritus can be seen with hepatic and renal disease such as cholestasis, alcoholic liver disease, primary biliary cholangitis, hepatitis B and C, and chronic kidney disease. Drug and alcohol use can contribute to pruritus as well so it is worthwhile to gather a social history. Those who use cocaine and amphetamines may experience pruritus due to feelings of abnormal cutaneous sensations called delusions of parasitosis, also known as "meth mites". Opioid users can also experience pruritus so examining a patients medication list can be beneficial.
Diagnostic criteria
The French Psychodermatology Group is a subgroup of the French Society of Dermatology made up on psychiatrists, dermatologists and psychologists. They met in 2007 to propose diagnostic criteria for this disease in hope of preventing further misdiagnosis of this condition. They believed the term "functional itch disorder" was the best phrase to describe this condition, avoiding the use of the word "psychogenic". To diagnose a patient with functional itch disorder, the patient should meet three required criteria and three of seven optional criteria.Diagnostic Criteria:
3 Required criteria
Localized or generalized pruritus without a primary skin lesion
Chronic pruritus, characterized as being greater than 6 weeks
There is no somatic cause present
7 Optional criteria (need 3 to diagnose)
A chronological relationship of pruritus with one or several life events that can have psychological consequences
Changes during the nighttime
More present during rest or inaction
There is a coupled psychological disorder
Pruritus that could be improved with pyschotropic drugs
Pruritus that could be improved by psychotherapies
Treatment
The treatment for this condition has not been well studied but the most common options are psychotherapy and medicines geared toward psychiatric conditions. Stress reduction and relaxation techniques have also been shown to be helpful for alleviating this condition. Having a strong physician-patient alliance can also lead to the improvement of symptoms. The condition is often managed with drugs including H1-antihistamines, tricyclic antidepressants, tetracyclic antidepressants, selective serotonin reuptake inhibitors, antipsychotics, or benzodiazepines.If the cause is found to be dermatologic in nature, dermatologists can offer solutions such as intralesional injections, wet wraps and other occlusive options. Menthol and cool compresses can also relieve the patient of their itch. It is also common for psychologic conditions such as obsessive-compulsive disorder, depression, anxiety, bipolar and psychosis to present with pruritus.
Epidemiology
The incidence is not known. However, it is more common in females of the age range of 30-45 years.
See also
List of cutaneous conditions
References
== External links == |
Hypertension | Hypertension (HTN or HT), also known as high blood pressure (HBP), is a long-term medical condition in which the blood pressure in the arteries is persistently elevated. High blood pressure usually does not cause symptoms. Long-term high blood pressure, however, is a major risk factor for stroke, coronary artery disease, heart failure, atrial fibrillation, peripheral arterial disease, vision loss, chronic kidney disease, and dementia. Hypertension is a major cause of premature death worldwide.High blood pressure is classified as primary (essential) hypertension or secondary hypertension. About 90–95% of cases are primary, defined as high blood pressure due to nonspecific lifestyle and genetic factors. Lifestyle factors that increase the risk include excess salt in the diet, excess body weight, smoking, and alcohol use. The remaining 5–10% of cases are categorized as secondary high blood pressure, defined as high blood pressure due to an identifiable cause, such as chronic kidney disease, narrowing of the kidney arteries, an endocrine disorder, or the use of birth control pills.Blood pressure is classified by two measurements, the systolic and diastolic pressures, which are the maximum and minimum pressures, respectively. For most adults, normal blood pressure at rest is within the range of 100–130 millimeters mercury (mmHg) systolic and 60–80 mmHg diastolic. For most adults, high blood pressure is present if the resting blood pressure is persistently at or above 130/80 or 140/90 mmHg. Different numbers apply to children. Ambulatory blood pressure monitoring over a 24-hour period appears more accurate than office-based blood pressure measurement.Lifestyle changes and medications can lower blood pressure and decrease the risk of health complications. Lifestyle changes include weight loss, physical exercise, decreased salt intake, reducing alcohol intake, and a healthy diet. If lifestyle changes are not sufficient, then blood pressure medications are used. Up to three medications taken concurrently can control blood pressure in 90% of people. The treatment of moderately high arterial blood pressure (defined as >160/100 mmHg) with medications is associated with an improved life expectancy. The effect of treatment of blood pressure between 130/80 mmHg and 160/100 mmHg is less clear, with some reviews finding benefit and others finding unclear benefit. High blood pressure affects between 16 and 37% of the population globally. In 2010 hypertension was believed to have been a factor in 18% of all deaths (9.4 million globally).
Signs and symptoms
Hypertension is rarely accompanied by symptoms, and its identification is usually through screening, or when seeking healthcare for an unrelated problem. Some people with high blood pressure report headaches (particularly at the back of the head and in the morning), as well as lightheadedness, vertigo, tinnitus (buzzing or hissing in the ears), altered vision or fainting episodes. These symptoms, however, might be related to associated anxiety rather than the high blood pressure itself.On physical examination, hypertension may be associated with the presence of changes in the optic fundus seen by ophthalmoscopy. The severity of the changes typical of hypertensive retinopathy is graded from I to IV; grades I and II may be difficult to differentiate. The severity of the retinopathy correlates roughly with the duration or the severity of the hypertension.
Secondary hypertension
Secondary hypertension is hypertension due to an identifiable cause, and may result in certain specific additional signs and symptoms. For example, as well as causing high blood pressure, Cushings syndrome frequently causes truncal obesity, glucose intolerance, moon face, a hump of fat behind the neck and shoulders (referred to as a buffalo hump), and purple abdominal stretch marks. Hyperthyroidism frequently causes weight loss with increased appetite, fast heart rate, bulging eyes, and tremor. Renal artery stenosis (RAS) may be associated with a localized abdominal bruit to the left or right of the midline (unilateral RAS), or in both locations (bilateral RAS). Coarctation of the aorta frequently causes a decreased blood pressure in the lower extremities relative to the arms, or delayed or absent femoral arterial pulses. Pheochromocytoma may cause abrupt episodes of hypertension accompanied by headache, palpitations, pale appearance, and excessive sweating.
Hypertensive crisis
Severely elevated blood pressure (equal to or greater than a systolic 180 or diastolic of 110) is referred to as a hypertensive crisis. Hypertensive crisis is categorized as either hypertensive urgency or hypertensive emergency, according to the absence or presence of end organ damage, respectively.In hypertensive urgency, there is no evidence of end organ damage resulting from the elevated blood pressure. In these cases, oral medications are used to lower the BP gradually over 24 to 48 hours.In hypertensive emergency, there is evidence of direct damage to one or more organs. The most affected organs include the brain, kidney, heart and lungs, producing symptoms which may include confusion, drowsiness, chest pain and breathlessness. In hypertensive emergency, the blood pressure must be reduced more rapidly to stop ongoing organ damage, however, there is a lack of randomized controlled trial evidence for this approach.
Pregnancy
Hypertension occurs in approximately 8–10% of pregnancies. Two blood pressure measurements six hours apart of greater than 140/90 mm Hg are diagnostic of hypertension in pregnancy. High blood pressure in pregnancy can be classified as pre-existing hypertension, gestational hypertension, or pre-eclampsia.Pre-eclampsia is a serious condition of the second half of pregnancy and following delivery characterised by increased blood pressure and the presence of protein in the urine. It occurs in about 5% of pregnancies and is responsible for approximately 16% of all maternal deaths globally. Pre-eclampsia also doubles the risk of death of the baby around the time of birth. Usually there are no symptoms in pre-eclampsia and it is detected by routine screening. When symptoms of pre-eclampsia occur the most common are headache, visual disturbance (often "flashing lights"), vomiting, pain over the stomach, and swelling. Pre-eclampsia can occasionally progress to a life-threatening condition called eclampsia, which is a hypertensive emergency and has several serious complications including vision loss, brain swelling, seizures, kidney failure, pulmonary edema, and disseminated intravascular coagulation (a blood clotting disorder).In contrast, gestational hypertension is defined as new-onset hypertension during pregnancy without protein in the urine.
Children
Failure to thrive, seizures, irritability, lack of energy, and difficulty in breathing can be associated with hypertension in newborns and young infants. In older infants and children, hypertension can cause headache, unexplained irritability, fatigue, failure to thrive, blurred vision, nosebleeds, and facial paralysis.
Causes
Primary hypertension
Hypertension results from a complex interaction of genes and environmental factors. Numerous common genetic variants with small effects on blood pressure have been identified as well as some rare genetic variants with large effects on blood pressure. Also, genome-wide association studies (GWAS) have identified 35 genetic loci related to blood pressure; 12 of these genetic loci influencing blood pressure were newly found. Sentinel SNP for each new genetic locus identified has shown an association with DNA methylation at multiple nearby CpG sites. These sentinel SNP are located within genes related to vascular smooth muscle and renal function. DNA methylation might affect in some way linking common genetic variation to multiple phenotypes even though mechanisms underlying these associations are not understood. Single variant test performed in this study for the 35 sentinel SNP (known and new) showed that genetic variants singly or in aggregate contribute to risk of clinical phenotypes related to high blood pressure.Blood pressure rises with aging when associated with a western diet and lifestyle and the risk of becoming hypertensive in later life is significant. Several environmental factors influence blood pressure. High salt intake raises the blood pressure in salt sensitive individuals; lack of exercise, central obesity can play a role in individual cases. The possible roles of other factors such as caffeine consumption, and vitamin D deficiency are less clear. Insulin resistance, which is common in obesity and is a component of syndrome X (or the metabolic syndrome), also contributes to hypertension.Events in early life, such as low birth weight, maternal smoking, and lack of breastfeeding may be risk factors for adult essential hypertension, although the mechanisms linking these exposures to adult hypertension remain unclear. An increased rate of high blood uric acid has been found in untreated people with hypertension in comparison with people with normal blood pressure, although it is uncertain whether the former plays a causal role or is subsidiary to poor kidney function. Average blood pressure may be higher in the winter than in the summer. Periodontal disease is also associated with high blood pressure.
Secondary hypertension
Secondary hypertension results from an identifiable cause. Kidney disease is the most common secondary cause of hypertension. Hypertension can also be caused by endocrine conditions, such as Cushings syndrome, hyperthyroidism, hypothyroidism, acromegaly, Conns syndrome or hyperaldosteronism, renal artery stenosis (from atherosclerosis or fibromuscular dysplasia), hyperparathyroidism, and pheochromocytoma. Other causes of secondary hypertension include obesity, sleep apnea, pregnancy, coarctation of the aorta, excessive eating of liquorice, excessive drinking of alcohol, certain prescription medicines, herbal remedies, and stimulants such as coffee, cocaine and methamphetamine. Arsenic exposure through drinking water has been shown to correlate with elevated blood pressure. Depression was also linked to hypertension. Loneliness is also a risk factor.A 2018 review found that any alcohol increased blood pressure in males while over one or two drinks increased the risk in females.
Pathophysiology
In most people with established essential hypertension, increased resistance to blood flow (total peripheral resistance) accounts for the high pressure while cardiac output remains normal. There is evidence that some younger people with prehypertension or borderline hypertension have high cardiac output, an elevated heart rate and normal peripheral resistance, termed hyperkinetic borderline hypertension. These individuals develop the typical features of established essential hypertension in later life as their cardiac output falls and peripheral resistance rises with age. Whether this pattern is typical of all people who ultimately develop hypertension is disputed. The increased peripheral resistance in established hypertension is mainly attributable to structural narrowing of small arteries and arterioles, although a reduction in the number or density of capillaries may also contribute.It is not clear whether or not vasoconstriction of arteriolar blood vessels plays a role in hypertension. Hypertension is also associated with decreased peripheral venous compliance which may increase venous return, increase cardiac preload and, ultimately, cause diastolic dysfunction.
Pulse pressure (the difference between systolic and diastolic blood pressure) is frequently increased in older people with hypertension. This can mean that systolic pressure is abnormally high, but diastolic pressure may be normal or low, a condition termed isolated systolic hypertension. The high pulse pressure in elderly people with hypertension or isolated systolic hypertension is explained by increased arterial stiffness, which typically accompanies aging and may be exacerbated by high blood pressure.Many mechanisms have been proposed to account for the rise in peripheral resistance in hypertension. Most evidence implicates either disturbances in the kidneys salt and water handling (particularly abnormalities in the intrarenal renin–angiotensin system) or abnormalities of the sympathetic nervous system. These mechanisms are not mutually exclusive and it is likely that both contribute to some extent in most cases of essential hypertension. It has also been suggested that endothelial dysfunction and vascular inflammation may also contribute to increased peripheral resistance and vascular damage in hypertension. Interleukin 17 has garnered interest for its role in increasing the production of several other immune system chemical signals thought to be involved in hypertension such as tumor necrosis factor alpha, interleukin 1, interleukin 6, and interleukin 8.Excessive sodium or insufficient potassium in the diet leads to excessive intracellular sodium, which contracts vascular smooth muscle, restricting blood flow and so increases blood pressure.
Diagnosis
Hypertension is diagnosed on the basis of a persistently high resting blood pressure. The American Heart Association (AHA) recommends at least three resting measurements on at least two separate health care visits. The UK National Institute for Health and Care Excellence recommends ambulatory blood pressure monitoring to confirm the diagnosis of hypertension if a clinic blood pressure is 140/90 mmHg or higher.
Measurement technique
For an accurate diagnosis of hypertension to be made, it is essential for proper blood pressure measurement technique to be used. Improper measurement of blood pressure is common and can change the blood pressure reading by up to 10 mmHg, which can lead to misdiagnosis and misclassification of hypertension. Correct blood pressure measurement technique involves several steps. Proper blood pressure measurement requires the person whose blood pressure is being measured to sit quietly for at least five minutes which is then followed by application of a properly fitted blood pressure cuff to a bare upper arm. The person should be seated with their back supported, feet flat on the floor, and with their legs uncrossed. The person whose blood pressure is being measured should avoid talking or moving during this process. The arm being measured should be supported on a flat surface at the level of the heart. Blood pressure measurement should be done in a quiet room so the medical professional checking the blood pressure can hear the Korotkoff sounds while listening to the brachial artery with a stethoscope for accurate blood pressure measurements. The blood pressure cuff should be deflated slowly (2–3 mmHg per second) while listening for the Korotkoff sounds. The bladder should be emptied before a persons blood pressure is measured since this can increase blood pressure by up to 15/10 mmHg. Multiple blood pressure readings (at least two) spaced 1–2 minutes apart should be obtained to ensure accuracy. Ambulatory blood pressure monitoring over 12 to 24 hours is the most accurate method to confirm the diagnosis. An exception to this is those with very high blood pressure readings especially when there is poor organ function.With the availability of 24-hour ambulatory blood pressure monitors and home blood pressure machines, the importance of not wrongly diagnosing those who have white coat hypertension has led to a change in protocols. In the United Kingdom, current best practice is to follow up a single raised clinic reading with ambulatory measurement, or less ideally with home blood pressure monitoring over the course of 7 days. The United States Preventive Services Task Force also recommends getting measurements outside of the healthcare environment. Pseudohypertension in the elderly or noncompressibility artery syndrome may also require consideration. This condition is believed to be due to calcification of the arteries resulting in abnormally high blood pressure readings with a blood pressure cuff while intra arterial measurements of blood pressure are normal. Orthostatic hypertension is when blood pressure increases upon standing.
Other investigations
Once the diagnosis of hypertension has been made, healthcare providers should attempt to identify the underlying cause based on risk factors and other symptoms, if present. Secondary hypertension is more common in preadolescent children, with most cases caused by kidney disease. Primary or essential hypertension is more common in adolescents and adults and has multiple risk factors, including obesity and a family history of hypertension. Laboratory tests can also be performed to identify possible causes of secondary hypertension, and to determine whether hypertension has caused damage to the heart, eyes, and kidneys. Additional tests for diabetes and high cholesterol levels are usually performed because these conditions are additional risk factors for the development of heart disease and may require treatment.Initial assessment of the hypertensive people should include a complete history and physical examination. Serum creatinine is measured to assess for the presence of kidney disease, which can be either the cause or the result of hypertension. Serum creatinine alone may overestimate glomerular filtration rate and recent guidelines advocate the use of predictive equations such as the Modification of Diet in Renal Disease (MDRD) formula to estimate glomerular filtration rate (eGFR). eGFR can also provide a baseline measurement of kidney function that can be used to monitor for side effects of certain anti-hypertensive drugs on kidney function. Additionally, testing of urine samples for protein is used as a secondary indicator of kidney disease. Electrocardiogram (EKG/ECG) testing is done to check for evidence that the heart is under strain from high blood pressure. It may also show whether there is thickening of the heart muscle (left ventricular hypertrophy) or whether the heart has experienced a prior minor disturbance such as a silent heart attack. A chest X-ray or an echocardiogram may also be performed to look for signs of heart enlargement or damage to the heart.
Classification in adults
In people aged 18 years or older hypertension is defined as either a systolic or a diastolic blood pressure measurement consistently higher than an accepted normal value (this is above 129 or 139 mmHg systolic, 89 mmHg diastolic depending on the guideline). Other thresholds are used (135 mmHg systolic or 85 mmHg diastolic) if measurements are derived from 24-hour ambulatory or home monitoring. Recent international hypertension guidelines have also created categories below the hypertensive range to indicate a continuum of risk with higher blood pressures in the normal range. The Seventh Report of the Joint National Committee on Prevention, Detection, Evaluation and Treatment of High Blood Pressure (JNC7) published in 2003 uses the term prehypertension for blood pressure in the range 120–139 mmHg systolic or 80–89 mmHg diastolic, while European Society of Hypertension Guidelines (2007) and British Hypertension Society (BHS) IV (2004) use optimal, normal and high normal categories to subdivide pressures below 140 mmHg systolic and 90 mmHg diastolic. Hypertension is also sub-classified: JNC7 distinguishes hypertension stage I, hypertension stage II, and isolated systolic hypertension. Isolated systolic hypertension refers to elevated systolic pressure with normal diastolic pressure and is common in the elderly. The ESH-ESC Guidelines (2007) and BHS IV (2004) additionally define a third stage (stage III hypertension) for people with systolic blood pressure exceeding 179 mmHg or a diastolic pressure over 109 mmHg. Hypertension is classified as "resistant" if medications do not reduce blood pressure to normal levels. In November 2017, the American Heart Association and American College of Cardiology published a joint guideline which updates the recommendations of the JNC7 report. The 2020 International Society of Hypertension guidelines define hypertension based on office blood pressure ≥140/90 mmHg or home monitoring blood pressure ≥135/85 mmHg, or 24-hour ambulatory blood pressure average ≥130/80 mmHg (daytime average ≥135/85 mmHg or nighttime average BP ≥120/70 mmHg).
Children
Hypertension occurs in around 0.2 to 3% of newborns; however, blood pressure is not measured routinely in healthy newborns. Hypertension is more common in high risk newborns. A variety of factors, such as gestational age, postconceptional age and birth weight needs to be taken into account when deciding if a blood pressure is normal in a newborn.Hypertension defined as elevated blood pressure over several visits affects 1% to 5% of children and adolescents and is associated with long-term risks of ill-health. Blood pressure rises with age in childhood and, in children, hypertension is defined as an average systolic or diastolic blood pressure on three or more occasions equal or higher than the 95th percentile appropriate for the sex, age and height of the child. High blood pressure must be confirmed on repeated visits however before characterizing a child as having hypertension. Prehypertension in children has been defined as average systolic or diastolic blood pressure that is greater than or equal to the 90th percentile, but less than the 95th percentile. In adolescents, it has been proposed that hypertension and pre-hypertension are diagnosed and classified using the same criteria as in adults.The value of routine screening for hypertension in children over the age of 3 years is debated. In 2004 the National High Blood Pressure Education Program recommended that children aged 3 years and older have blood pressure measurement at
least once at every health care visit and the National Heart, Lung, and Blood Institute and American Academy of Pediatrics made a similar recommendation. However, the American Academy of Family Physicians supports the view of the U.S. Preventive Services Task Force that the available evidence is insufficient to determine the balance of benefits and harms of screening for hypertension in children and adolescents who do not have symptoms.
Prevention
Much of the disease burden of high blood pressure is experienced by people who are not labeled as hypertensive. Consequently, population strategies are required to reduce the consequences of high blood pressure and reduce the need for antihypertensive medications. Lifestyle changes are recommended to lower blood pressure, before starting medications. The 2004 British Hypertension Society guidelines proposed lifestyle changes consistent with those outlined by the US National High BP Education Program in 2002 for the primary prevention of hypertension:
maintain normal body weight for adults (e.g. body mass index 20–25 kg/m2)
reduce dietary sodium intake to <100 mmol/ day (<6 g of sodium chloride or <2.4 g of sodium per day)
engage in regular aerobic physical activity such as brisk walking (≥30 min per day, most days of the week)
limit alcohol consumption to no more than 3 units/day in men and no more than 2 units/day in women
consume a diet rich in fruit and vegetables (e.g. at least five portions per day);
Stress reductionAvoiding or learning to manage stress can help a person control blood pressure.
A few relaxation techniques that can help relieve stress are:
meditation
warm baths
yoga
going on long walksEffective lifestyle modification may lower blood pressure as much as an individual antihypertensive medication. Combinations of two or more lifestyle modifications can achieve even better results. There is considerable evidence that reducing dietary salt intake lowers blood pressure, but whether this translates into a reduction in mortality and cardiovascular disease remains uncertain. Estimated sodium intake ≥6g/day and <3g/day are both associated with high risk of death or major cardiovascular disease, but the association between high sodium intake and adverse outcomes is only observed in people with hypertension. Consequently, in the absence of results from randomized controlled trials, the wisdom of reducing levels of dietary salt intake below 3g/day has been questioned. ESC guidelines mention periodontitis is associated with poor cardiovascular health status.
Management
According to one review published in 2003, reduction of the blood pressure by 5 mmHg can decrease the risk of stroke by 34%, of ischemic heart disease by 21%, and reduce the likelihood of dementia, heart failure, and mortality from cardiovascular disease.
Target blood pressure
Various expert groups have produced guidelines regarding how low the blood pressure target should be when a person is treated for hypertension. These groups recommend a target below the range 140–160 / 90–100 mmHg for the general population. Cochrane reviews recommend similar targets for subgroups such as people with diabetes and people with prior cardiovascular disease. Additionally, Cochrane reviews have found that for older individuals with moderate to high cardiovascular risk, the benefits of trying to achieve a lower than standard blood pressure target (at or below 140/90 mmHg) are outweighed by the risk associated with the intervention. These findings may not be applicable to other populations.Many expert groups recommend a slightly higher target of 150/90 mmHg for those over somewhere between 60 and 80 years of age. The JNC-8 and American College of Physicians recommend the target of 150/90 mmHg for those over 60 years of age, but some experts within these groups disagree with this recommendation. Some expert groups have also recommended slightly lower targets in those with diabetes or chronic kidney disease with protein loss in the urine, but others recommend the same target as for the general population. The issue of what is the best target and whether targets should differ for high risk individuals is unresolved, although some experts propose more intensive blood pressure lowering than advocated in some guidelines.For people who have never experienced cardiovascular disease who are at a 10-year risk of cardiovascular disease of less than 10%, the 2017 American Heart Association guidelines recommend medications if the systolic blood pressure is >140 mmHg or if the diastolic BP is >90 mmHg. For people who have experienced cardiovascular disease or those who are at a 10-year risk of cardiovascular disease of greater than 10%, it recommends medications if the systolic blood pressure is >130 mmHg or if the diastolic BP is >80 mmHg.
Lifestyle modifications
The first line of treatment for hypertension is lifestyle changes, including dietary changes, physical exercise, and weight loss. Though these have all been recommended in scientific advisories, a Cochrane systematic review found no evidence for effects of weight loss diets on death, long-term complications or adverse events in persons with hypertension. The review did find a decrease in body weight and blood pressure. Their potential effectiveness is similar to and at times exceeds a single medication. If hypertension is high enough to justify immediate use of medications, lifestyle changes are still recommended in conjunction with medication.
Dietary changes shown to reduce blood pressure include diets with low sodium, the DASH diet (Dietary Approaches to Stop Hypertension), and plant-based diets. There is some evidence green tea consumption may help lower blood pressure, but this is insufficient for it to be recommended as a treatment. There is evidence from randomized, double-blind, placebo-controlled clinical trials that Hibiscus tea consumption significantly reduces systolic blood pressure (-4.71 mmHg, 95% CI [-7.87, -1.55]) and diastolic blood pressure (-4.08 mmHg, 95% CI [-6.48, -1.67]). Beetroot juice consumption also significantly lowers the blood pressure of people with high blood pressure.Increasing dietary potassium has a potential benefit for lowering the risk of hypertension. The 2015 Dietary Guidelines Advisory Committee (DGAC) stated that potassium is one of the shortfall nutrients which is under-consumed in the United States. However, people who take certain antihypertensive medications (such as ACE-inhibitors or ARBs) should not take potassium supplements or potassium-enriched salts due to the risk of high levels of potassium.Physical exercise regimens which are shown to reduce blood pressure include isometric resistance exercise, aerobic exercise, resistance exercise, and device-guided breathing.Stress reduction techniques such as biofeedback or transcendental meditation may be considered as an add-on to other treatments to reduce hypertension, but do not have evidence for preventing cardiovascular disease on their own. Self-monitoring and appointment reminders might support the use of other strategies to improve blood pressure control, but need further evaluation.
Medications
Several classes of medications, collectively referred to as antihypertensive medications, are available for treating hypertension.
First-line medications for hypertension include thiazide-diuretics, calcium channel blockers, angiotensin converting enzyme inhibitors (ACE inhibitors), and angiotensin receptor blockers (ARBs). These medications may be used alone or in combination (ACE inhibitors and ARBs are not recommended for use in combination); the latter option may serve to minimize counter-regulatory mechanisms that act to restore blood pressure values to pre-treatment levels. Most people require more than one medication to control their hypertension. Medications for blood pressure control should be implemented by a stepped care approach when target levels are not reached.Previously beta-blockers such as atenolol were thought to have similar beneficial effects when used as first-line therapy for hypertension. However, a Cochrane review that included 13 trials found that the effects of beta-blockers are inferior to that of other antihypertensive medications in preventing cardiovascular disease.
Resistant hypertension
Resistant hypertension is defined as high blood pressure that remains above a target level, in spite of being prescribed three or more antihypertensive drugs simultaneously with different mechanisms of action. Failing to take prescribed medications as directed is an important cause of resistant hypertension. Resistant hypertension may also result from chronically high activity of the autonomic nervous system, an effect known as neurogenic hypertension. Electrical therapies that stimulate the baroreflex are being studied as an option for lowering blood pressure in people in this situation.Some common secondary causes of resistant hypertension include obstructive sleep apnea, pheochromocytoma, renal artery stenosis, coarctation of the aorta, and primary |
Hypertension | aldosteronism. As many as one in five people with resistant hypertension have primary aldosteronism, which is a treatable and sometimes curable condition.
Refractory hypertension
Refractory hypertension is characterized by uncontrolled elevated blood pressure unmitigated by five or more antihypertensive agents of different classes, including a long-acting thiazide-like diuretic, a calcium channel blocker, and a blocker of the renin-angiotensin system. People with refractory hypertension typically have increased sympathetic nervous system activity, and are at high risk for more severe cardiovascular diseases and all-cause mortality.
Non-modulating
Non-modulating essential hypertension is a form of salt-sensitive hypertension, where sodium intake does not modulate either adrenal or renal vascular responses to angiotensin II. Individuals with this subset have been termed non-modulators. They make up 25–30% of the hypertensive population.
Epidemiology
Adults
As of 2014, approximately one billion adults or ~22% of the population of the world have hypertension. It is slightly more frequent in men, in those of low socioeconomic status, and it becomes more common with age. It is common in high, medium, and low income countries. In 2004 rates of high blood pressure were highest in Africa, (30% for both sexes) and lowest in the Americas (18% for both sexes). Rates also vary markedly within regions with rates as low as 3.4% (men) and 6.8% (women) in rural India and as high as 68.9% (men) and 72.5% (women) in Poland. Rates in Africa were about 45% in 2016.In Europe hypertension occurs in about 30–45% of people as of 2013. In 1995 it was estimated that 43 million people (24% of the population) in the United States had hypertension or were taking antihypertensive medication. By 2004 this had increased to 29% and further to 32% (76 million US adults) by 2017. In 2017, with the change in definitions for hypertension, 46% of people in the United States are affected. African-American adults in the United States have among the highest rates of hypertension in the world at 44%. It is also more common in Filipino Americans and less common in US whites and Mexican Americans. Differences in hypertension rates are multifactorial and under study.
Children
Rates of high blood pressure in children and adolescents have increased in the last 20 years in the United States. Childhood hypertension, particularly in pre-adolescents, is more often secondary to an underlying disorder than in adults. Kidney disease is the most common secondary cause of hypertension in children and adolescents. Nevertheless, primary or essential hypertension accounts for most cases.
Prognosis
Hypertension is the most important preventable risk factor for premature death worldwide. It increases the risk of ischemic heart disease, strokes, peripheral vascular disease, and other cardiovascular diseases, including heart failure, aortic aneurysms, diffuse atherosclerosis, chronic kidney disease, atrial fibrillation, cancers, leukemia and pulmonary embolism. Hypertension is also a risk factor for cognitive impairment and dementia. Other complications include hypertensive retinopathy and hypertensive nephropathy.
History
Measurement
Modern understanding of the cardiovascular system began with the work of physician William Harvey (1578–1657), who described the circulation of blood in his book "De motu cordis". The English clergyman Stephen Hales made the first published measurement of blood pressure in 1733. However, hypertension as a clinical entity came into its own with the invention of the cuff-based sphygmomanometer by Scipione Riva-Rocci in 1896. This allowed easy measurement of systolic pressure in the clinic. In 1905, Nikolai Korotkoff improved the technique by describing the Korotkoff sounds that are heard when the artery is ausculted with a stethoscope while the sphygmomanometer cuff is deflated. This permitted systolic and diastolic pressure to be measured.
Identification
The symptoms similar to symptoms of patients with hypertensive crisis are discussed in medieval Persian medical texts in the chapter of "fullness disease". The symptoms include headache, heaviness in the head, sluggish movements, general redness and warm to touch feel of the body, prominent, distended and tense vessels, fullness of the pulse, distension of the skin, coloured and dense urine, loss of appetite, weak eyesight, impairment of thinking, yawning, drowsiness, vascular rupture, and hemorrhagic stroke. Fullness disease was presumed to be due to an excessive amount of blood within the blood vessels.
Descriptions of hypertension as a disease came among others from Thomas Young in 1808 and especially Richard Bright in 1836. The first report of elevated blood pressure in a person without evidence of kidney disease was made by Frederick Akbar Mahomed (1849–1884).
Treatment
Historically the treatment for what was called the "hard pulse disease" consisted in reducing the quantity of blood by bloodletting or the application of leeches. This was advocated by The Yellow Emperor of China, Cornelius Celsus, Galen, and Hippocrates. The therapeutic approach for the treatment of hard pulse disease included changes in lifestyle (staying away from anger and sexual intercourse) and dietary program for patients (avoiding the consumption of wine, meat, and pastries, reducing the volume of food in a meal, maintaining a low-energy diet and the dietary usage of spinach and vinegar).
In the 19th and 20th centuries, before effective pharmacological treatment for hypertension became possible, three treatment modalities were used, all with numerous side-effects: strict sodium restriction (for example the rice diet), sympathectomy (surgical ablation of parts of the sympathetic nervous system), and pyrogen therapy (injection of substances that caused a fever, indirectly reducing blood pressure).The first chemical for hypertension, sodium thiocyanate, was used in 1900 but had many side effects and was unpopular. Several other agents were developed after the Second World War, the most popular and reasonably effective of which were tetramethylammonium chloride, hexamethonium, hydralazine, and reserpine (derived from the medicinal plant Rauvolfia serpentina). None of these were well tolerated. A major breakthrough was achieved with the discovery of the first well-tolerated orally available agents. The first was chlorothiazide, the first thiazide diuretic and developed from the antibiotic sulfanilamide, which became available in 1958. Subsequently, beta blockers, calcium channel blockers, angiotensin converting enzyme (ACE) inhibitors, angiotensin receptor blockers, and renin inhibitors were developed as antihypertensive agents.
Society and culture
Awareness
The World Health Organization has identified hypertension, or high blood pressure, as the leading cause of cardiovascular mortality. The World Hypertension League (WHL), an umbrella organization of 85 national hypertension societies and leagues, recognized that more than 50% of the hypertensive population worldwide are unaware of their condition. To address this problem, the WHL initiated a global awareness campaign on hypertension in 2005 and dedicated May 17 of each year as World Hypertension Day (WHD). Over the past three years, more national societies have been engaging in WHD and have been innovative in their activities to get the message to the public. In 2007, there was record participation from 47 member countries of the WHL. During the week of WHD, all these countries – in partnership with their local governments, professional societies, nongovernmental organizations and private industries – promoted hypertension awareness among the public through several media and public rallies. Using mass media such as Internet and television, the message reached more than 250 million people. As the momentum picks up year after year, the WHL is confident that almost all the estimated 1.5 billion people affected by elevated blood pressure can be reached.
Economics
High blood pressure is the most common chronic medical problem prompting visits to primary health care providers in USA. The American Heart Association estimated the direct and indirect costs of high blood pressure in 2010 as $76.6 billion. In the US 80% of people with hypertension are aware of their condition, 71% take some antihypertensive medication, but only 48% of people aware that they have hypertension adequately control it. Adequate management of hypertension can be hampered by inadequacies in the diagnosis, treatment, or control of high blood pressure. Health care providers face many obstacles to achieving blood pressure control, including resistance to taking multiple medications to reach blood pressure goals. People also face the challenges of adhering to medicine schedules and making lifestyle changes. Nonetheless, the achievement of blood pressure goals is possible, and most importantly, lowering blood pressure significantly reduces the risk of death due to heart disease and stroke, the development of other debilitating conditions, and the cost associated with advanced medical care.
Other animals
Hypertension in cats is indicated with a systolic blood pressure greater than 150 mm Hg, with amlodipine the usual first-line treatment.Normal blood pressure in dogs can differ substantially between breeds but hypertension is often diagnosed if systolic blood pressure is above 160 mm Hg particularly if this is associated with target organ damage. Inhibitors of the renin-angiotensin system and calcium channel blockers are often used to treat hypertension in dogs, although other drugs may be indicated for specific conditions causing high blood pressure.
References
Further reading
Sukino Health Care Solutions (21 February 2022). "Hypertension: Friendly advice that changed my outlook on life". sukino.com.
External links
Quotations related to Hypertension at Wikiquote |
Brainerd diarrhea | Brainerd diarrhea is a sudden-onset watery, explosive diarrhea that lasts for months and does not respond to antibiotics; the cause of Brainerd diarrhea is unknown. Brainerd diarrhea was first described in Brainerd, Minnesota in 1983.
It has been associated with the consumption of raw milk and untreated water. Of the ten outbreaks reported since 1983, nine have been in the U.S. The characteristics of each outbreak have been similar to that caused by an infectious agent. Although a comparatively large outbreak (117 patients) occurred in 1996 in Fannin County, Texas., the largest outbreak (122 patients) was the original one in Brainerd, MN. There have been no secondary cases reported in any of the outbreaks, suggesting that the
causative agent cannot be passed from person to person, but boiling water appears to inactivate the Brainerd agent. Although there is no treatment available, the disease does appear to resolve itself, although this process takes months if not years.
References
External link
CDC information on Brainerd Diarrhea |
Central centrifugal cicatricial alopecia | Central centrifugal cicatricial alopecia (CCCA), is a type of alopecia first noticed in African Americans in the 1950s and reported by LoPresti et al. in 1968 as a result of application of petrolatum followed by a stove-heated iron comb. The original theory was that the hot petrolatum would travel down to the hair root, burn the follicle, and after repetitive injury scarring would result. Later CCCA was realized to affect men and women without a history significant for use of such styling techniques. Consequently, the terms "follicular degeneration syndrome" per Sperling and Sau in 1992 and then CCCA per Olsent et al. in 2003 were evolved. Plausible contributing factors may include other African-American styling techniques such as relaxers, tight braids, heavy extensions, certain oils, gels or pomades.
Presentation
CCCA usually begins at the central (sagittal) midline of the scalp. It is symmetric and exhibits scarring as the name suggests. It involves solely the top of the scalp or may progress to Hamilton–Norwood scale Type VI or VII. Early symptoms may include pruritus, dysesthesias and tenderness. On examination the skin is thin with few follicular ostia and later in the disease the scalp may appear shiny.
Cause
The mechanism of pathology of CCCA remains unknown; thus, the cause has only been postulated and not proven. CCCA is suspected to have a multi-factored cause. However, one theory involves pressure exerted on the internal root sheath leading to damage, which leads to the recruitment of inflammatory cells and the result of scarring. African Americans are found to be at increased risk. Historically, some have hypothesized that CCCA represents an end stage of traction alopecia. However, the veracity of this theory is low as many patients who have CCCA have not employed traction hairstyling.
Histopathologic features
Histopathologic features include a perifollicular lymphocytic infiltrate, concentric lamellar fibrosis (layers of fibroblasts in the papillary dermis), sebaceous gland loss and premature disintegration of the internal root sheath. Additionally, granulomatous inflammation secondary to follicular rupture has been noted. Perifollicular erythema and follicular keratosis is usually absent.
Treatment
Treatments for CCCA remain investigational. Altering hair care practices has not been proven to assist in hair rejuvenation. High-dose topical steroids, antibiotics, immunomodulators such as tacrolimus (Protopic) and pimecrolimus (Elidel), and anti-androgen/5alpha Reductase inhibitors have been used with unknown efficacy.: 648–9 : 760
Epidemiology
CCCA tends to present itself in the 20s and progresses over 20–30 years. One should consider this diagnosis in African Americans with what appears to be a female-pattern hair loss.
Terminology
The terminology of CCCA has been a source of regular confusion. Recent clarifications have been made, with the term "central centrifugal cicatritial alopecia" adopted as a diagnostic category by the North American Hair Research Society. It has also been referred to as:
Hot comb alopecia
Follicular degeneration syndrome
Pseudopelade in African Americans
Central elliptical pseudopelade in CaucasiansAlso in this category is cicatricial pattern hair loss (CPHL). This CCCA pattern is a potential alopecia mimic that can be confused for androgenetic alopecia. Alopecia mimics have proven a problem in establishing diagnosis of alopecia when using only clinical evaluation.A similarly sounding term is central centrifugal scarring alopecia (CCSA). (L.C. Sperling, Central, centrifugal scarring alopecia. In: L.C. Sperling, Editor, An atlas of hair pathology with clinical correlations, Parthenon Publishing Group, New York (2003), pp. 91–100). This is a clinical finding that describes the diagnosis of some primary cicatricial alopecias as noted mainly in the central scalp, and includes CCCA, folliculitis decalvans, and any other potential centrally presenting cicatricial alopecia. This term is not often used in the literature to signify diagnostic terminology.
See also
Cicatricial alopecia
List of cutaneous conditions
Hot comb
== References == |
Tumid lupus erythematosus | Tumid lupus erythematosus is a rare, but distinctive entity in which patients present with edematous erythematous plaques, usually on the trunk.Lupus erythematosus tumidus (LET) was reported by Henri Gougerot and Burnier R. in 1930. It is a photosensitive skin disorder, a different subtype of cutaneous lupus erythematosus (CLE) from discoid lupus erythematosus (DLE) or subacute CLE (SCLE). LET is usually found on sun-exposed areas of the body. Skin lesions are edematous, urticarialike annular papules and plaques. Topical corticosteroids are not effective as treatment for LET, but many will respond to chloroquine. LET resolves with normal skin, no residual scarring, no hyperpigmentation or hypopigmentation. Cigarette smokers who have LET may not respond very well to chloroquine.It has been suggested that it is equivalent to Jessner lymphocytic infiltrate of the skin.
See also
Lupus erythematosus
List of cutaneous conditions
== References == |
Tight hymenal ring | Tight hymenal ring is a disorder of the hymen, characterized by a rigid hymen and tight introitus, whether acquired or congenital. It excludes an imperforate hymen.
The condition can be relieved by outpatient surgery or manual dilation.
References
== External links == |
Toxic amblyopia | Toxic amblyopia, or nutritional optic neuropathy, is a condition where a toxic reaction in the optic nerve results in visual loss. Various poisonous substances may cause the condition as well as nutritional factors.Tobacco amblyopia is a form of toxic amblyopia caused by tobacco containing cyanide. Tobacco amblyopia is marked by a gradual impairment of vision characterised by visual field defects and hindered central vision.
Methyl alcohol amblyopia occurs through acute poisoning by methyl alcohol and may lead to complete blindness.
Since the term toxic amblyopia is a misnomer according to modern definition of amblyopia, it is now more accurately termed as toxic retinopathies or neuropathies.
== References == |
Livedoid vasculitis | Livedoid vasculopathy is a chronic cutaneous disease seen predominantly in young to middle-aged women. One acronym used to describe its features is "Painful purpuric ulcers with reticular pattern of the lower extremities" (PURPLE).
It can be divided into a primary (or idiopathic) form and a secondary form, which has been associated with a number of diseases, including chronic venous hypertension and varicosities.: 343
See also
List of cutaneous conditions
Livedo
Livedo reticularis
Livedoid dermatitis
References
External links
DermNet vascular/livedoid-vasculitis |
Jugular foramen syndrome | Jugular foramen syndrome, or Vernets syndrome, is characterized by paresis of the glossopharyngeal, vagal, and accessory (with or without the hypoglossal) nerves.
Symptoms
Symptoms of this syndrome are consequences of this paresis. As such, an affected patient may show:
dysphonia/hoarseness
soft palate dropping
deviation of the uvula towards the normal side
dysphagia
loss of sensory function from the posterior 1/3 of the tongue (CN IX)
decrease in the parotid gland secretion (CN IX)
loss of gag reflex
sternocleidomastoid and trapezius muscles paresis (CN XI)
Causes
Glomus tumors (most frequently)
Meningiomas
Schwannomas (Acoustic neuroma)
Metastatic tumors located at the cerebellopontine angle
Trauma
Fracture of occipital bone
Infections
Cholesteatoma (very rare)
Obstruction of the jugular foramen due to bone diseases
Nasopharyngeal carcinoma spreading into the parapharyngeal space involving the ninth, tenth, and eleventh cranial nerves
Diagnosis
Gadolinium enhanced mri for vestibular schwannoma
mri and biopsy for nasopharyngeal carcinoma
based on nerve palsies
NCCT for occipital bone fracture
== References == |
High-altitude pulmonary edema | High-altitude pulmonary edema (HAPE) is a life-threatening form of non-cardiogenic pulmonary edema that occurs in otherwise healthy people at altitudes typically above 2,500 meters (8,200 ft). However, cases have also been reported between 1,500–2,500 metres or 4,900–8,200 feet in more vulnerable subjects.
Classically, HAPE occurs in persons normally living at low altitude who travel to an altitude above 2,500 meters (8,200 feet). Re-entry HAPE is also an entity that has been described in persons who normally live at high altitude but who develop pulmonary edema after returning from a stay at low altitude. It is severe presentation of altitude sickness.
There are many factors that can make a person more susceptible to developing HAPE, including genetic factors, but detailed understanding is lacking and currently under investigation. HAPE remains the major cause of death related to high-altitude exposure, with a high mortality rate in the absence of adequate emergency treatment.
Signs and symptoms
Physiological and symptomatic changes often vary according to the altitude involved.The Lake Louise Consensus Definition for high-altitude pulmonary edema has set widely used criteria for defining HAPE symptoms.In the presence of a recent gain in altitude, the presence of the following:
Symptoms: at least two of:
Shortness of breath at rest
Cough
Weakness or decreased exercise performance
Chest tightness or congestionSigns: at least two of:
Crackles or wheezing (while breathing) in at least one lung field
Central blue skin color
Tachypnea (rapid breathing)
Tachycardia (rapid heart rate)Acute mountain sickness and high altitude cerebral edema may also be present in conjunction with HAPE, however these symptoms may be subtle or not present at all. The most reliable sign of HAPE is severe fatigue or exercise intolerance, especially in a climber that was previously not displaying this symptom.
Risk factors
There are multiple factors that can contribute to the development of HAPE, including sex (male), genetic factors, prior development of HAPE, ascent rate, cold exposure, peak altitude, intensity of physical exertion, and certain underlying medical conditions (e.g., pulmonary hypertension). Anatomic abnormalities that are predisposing include congenital absence of pulmonary artery, and left-to-right intracardiac shunts (e.g., atrial and ventricular septal defects), both of which increase pulmonary blood flow. HAPE-susceptible (HAPE-s) individuals were also found to be four times more likely to have a patent foramen ovale (PFO) than those who were HAPE-resistant. There is currently no indication or recommendation for people with PFO to pursue closure prior to extreme altitude exposure.In studies performed at sea level, HAPE-s people were found to have exaggerated circulatory response to both hypoxia at rest and during exercise. In these individuals, the pulmonary artery pressure (PAP) and pulmonary vascular resistance (PVR) were shown to be abnormally high. Microneurographic recordings in these individuals developed a direct link between PAP rise and sympathetic nervous system over-activation, which could explain the exaggerated response to hypoxia in these persons.Endothelial tissue dysfunction has also been linked to development of HAPE, including reduced synthesis of NO (a potent vasodilator), increased levels of endothelin (a potent vasconstrictor), and an impaired ability to transport sodium and water across the epithelium and out of the alveoli.Data on the genetic basis for HAPE susceptibility is conflicting and interpretation is difficult. Genes implicated in the development of HAPE include those in the renin-angiotensin system (RAS), NO pathway, and hypoxia-inducible factor pathway (HIF). Future genomic testing could provide a clearer picture of the genetic factors that contribute to HAPE.
Pathophysiology
Though it remains a topic of intense investigation, multiple studies and reviews over the last several years have helped to elucidate the proposed mechanism of HAPE. The inciting factor of HAPE is the decrease in partial pressure of arterial oxygen caused by the lower air pressure at high altitudes (pulmonary gas pressures). The resultant hypoxemia is then thought to precipitate the development of:
Increased pulmonary arterial and capillary pressures (pulmonary hypertension) secondary to hypoxic pulmonary vasoconstriction.
Increased capillary pressure (hydrostatic pressure) with over-distention of the capillary beds and increased permeability of the vascular endothelium, also known as "stress failure." This leads to subsequent leakage of cells and proteins into the alveoli, aka pulmonary edema.Hypoxic pulmonary vasoconstriction (HPV) occurs diffusely, leading to arterial vasoconstriction in all areas of the lung. This is evidenced by the appearance of "diffuse," "fluffy," and "patchy" infiltrates described on imaging studies of climbers with known HAPE.Although higher pulmonary arterial pressures are associated with the development of HAPE, the presence of pulmonary hypertension may not in itself be sufficient to explain the development of edema; severe pulmonary hypertension can exist in the absence of clinical HAPE in subjects at high altitude.
Diagnosis
The diagnosis of HAPE is entirely based on symptoms and many of the symptoms overlap with other diagnoses. Before HAPE was understood it was commonly confused with pneumonia which resulted in inappropriate treatment.HAPE generally develops in the first 2 to 4 days of hiking at altitudes >2,500 meters (8,200 ft), and symptoms seem to worsen most commonly on the second night. Initial symptoms are vague and include shortness of breath, decreased exercise ability, increased recovery time, fatigue, and weakness, especially with walking uphill. People then develop a dry, persistent cough, and often cyanosis of the lips. Another cardinal feature of HAPE is the rapid progression to dyspnea at rest. The development of pink, frothy, or frankly bloody sputum are late features of HAPE. In some cases, people will develop concomitant neurological features such as poor coordination, altered consciousness, or cerebral edema (High-altitude cerebral edema).On physical exam, increased breathing rates, increased heart rates, and a low-grade fever 38.5o (101.3o F) are common. Listening to the lungs may reveal crackles in one or both lungs, often starting in the right middle lobe. Imaging studies such as X-ray and CT imaging of the chest may reveal thoracic infiltrates that can be seen as opaque patches. One distinct feature of HAPE is that pulse oximetry saturation levels (SpO2) are often decreased from what would be expected for the altitude. People typically do not appear as ill as SpO2 and chest X-ray films would suggest. Giving extra oxygen rapidly improves symptoms and SpO2 values; in the setting of infiltrative changes on chest X-ray, this is nearly pathognomonic for HAPE.
Severity
The severity of HAPE is graded. The grades of mild, moderate, or severe HAPE are assigned based upon symptoms, clinical signs, and chest x-ray results for individuals. The symptoms that are taken in to account while evaluation the severity of HAPE are difficulty breathing while exerting or while at rest, the presence of a cough and the quality of that cough, and the level of fatigue of the patient. On physical exam of a suspected HAPE patient the exam findings used to grade the severity are the heart rate, respiratory rate, signs of cyanosis, and severity of lung sounds. Both symptoms and signs on physical exam can be used to evaluate a patient in the field. Chest X-rays are also used to evaluate the severity of HAPE when they are available.
Differential diagnosis
Differential diagnosis:
Pneumonia
Bronchitis
Mucous plugging
Pulmonary embolism
Acute coronary syndrome
Acute decompensated heart failure
Asthma
Reactive airway disease
Exercise-associated hyponatremia
Pneumothorax
Prevention
The primary recommendation for the prevention of HAPE is gradual ascent. The suggested rate of ascent is the same that applies to the prevention of acute mountain sickness and high-altitude cerebral edema.
The Wilderness Medical Society (WMS) recommends that, above 3,000 metres (9,800 ft), climbers
not increase the sleeping elevation by more than 500 metres (1,600 ft) a day, and
include a rest day every 3–4 days (i.e., no additional ascent).In the event that adherence to these recommendations is limited by terrain or logistical factors, the WMS recommends rest days either before or after days with large gains. Overall, WMS recommends that the average ascent rate of the entire trip be less than 500 metres (1,600 ft) per day.The most studied and preferred medication for prevention of HAPE is nifedipine, a pulmonary vasodilator which prevents the altitude induced pulmonary hypertension. The recommendation for its use is strongest for individuals with a history of HAPE. According to published data, treatment is most effective if given one day prior to ascent and continued for four to five days, or until descent below 2,500 meters (8,200 ft).Additional medications that are being considered for prevention but require further research to determine efficacy and treatment guidelines include acetazolamide, salmeterol, tadalafil (and other PDE5 inhibitors), and dexamethasone. Acetazolamide has proven to be clinically effective, but formal studies are lacking. Salmeterol is considered an adjunctive therapy to nifedipine, though only in highly susceptible climbers with clearly demonstrated recurrence of HAPE. Tadalafil was found to be effective at preventing HAPE in HAPE-s individuals during rapid ascent, but optimal dosing and frequency has yet to be established. Use of dexamethasone is currently indicated for the treatment of moderate-to-severe acute mountain sickness, as well as high-altitude cerebral edema. It has also been found to prevent HAPE, but its routine use is not yet recommended.Notably, each of these medications acts to block hypoxic pulmonary hypertension, lending evidence to the proposed pathophysiology of HAPE outlined above.It is recommended that those who go to high altitude avoid alcohol or sleeping medications.
Treatment
The recommended first line treatment is descent to a lower altitude as quickly as possible, with symptomatic improvement seen in as few as 500 to 1,000 meters (1,640 feet to 3,281 feet). However, descent is not mandatory in people with mild HAPE and treatment with warming techniques, rest, and supplemental oxygen can improve symptoms. Giving oxygen at flow rates high enough to maintain an SpO2 at or above 90% is a fair substitute for descent. In the hospital setting, oxygen is generally given by nasal cannula or face mask for several hours until the person is able to maintain oxygen saturations above 90% while breathing the surrounding air. In remote settings where resources are scarce and descent is not feasible, a reasonable substitute can be the use of a portable hyperbaric chamber, which simulates descent, combined with additional oxygen and medications.As with prevention, the standard medication once a climber has developed HAPE is nifedipine, although its use is best in combination with and does not substitute for descent, hyperbaric therapy, or oxygen therapy. Though they have not formally been studied for the treatment of HAPE, phosphodiesterase type 5 inhibitors such as sildenafil and tadalafil are also effective and can be considered as add-on treatment if first-line therapy is not possible; however, they may worsen the headache of mountain sickness. There is no established role for the inhaled beta-agonist salmeterol, though its use can be considered.Dexamethasone has a potential role in HAPE, though there are currently no studies to support its effectiveness as treatment. However, as outlined in the 2014 WMS Practice Guidelines, its use is recommended for the treatment of people with concomitant HAPE and HACE at the treatment doses recommended for HACE alone. Additionally, they support its use in HAPE with neurologic symptoms or hypoxic encephalopathy that cannot be distinguished from HACE.
Epidemiology
Rates of HAPE differs depending on altitude and speed of ascent. In general, there is about a 0.2 to 6 percent incidence at 4,500 metres (14,800 ft), and about 2 to 15 percent at 5,500 metres (18,000 ft). The higher incidence of 6% has been seen when climbers ascend at a rate > 600m/day. It has been reported that about 1 in 10,000 skiers who travel to moderate altitudes in Colorado develop HAPE; one study reported 150 cases over 39 months at a Colorado resort located at 2,928 metres (9,606 ft). About 1 in 50 climbers who ascended Denali [6,194 metres or 20,322 feet] developed pulmonary edema, and as high as 6% of climbers ascending rapidly in the Alps [4,559 metres or 14,957 feet]. In climbers who had previously developed HAPE, re-attack rate was up to 60% with ascent to 4,559 metres (14,957 ft) in a 36-hour time period, though this risk was significantly reduced with slower ascent rates. It is believed that up to 50% of people suffer from subclinical HAPE with mild edema to the lungs but no clinical impairment.
History
HAPE was recognized by physicians dating back to the 19th century but was originally attributed to “high altitude pneumonia”. The first documented case of pulmonary edema, confirmed by autopsy, was probably that of Dr Jacottet who died in 1891 in the Observatoire Vallot below the summit of Mont Blanc. After participating in a rescue on the mountain, the doctor refused to return. Instead, he spent further two nights at an altitude of 4,300 metres (14,100 ft) with obvious AMS symptoms and died on the second night.
This condition was subsequently noticed in otherwise healthy climbers who would die shortly after arriving at high altitudes. It was not until 1960 that Charles Houston, an internal medicine physician in Aspen, published a case report of 4 individuals participating in high elevation activities that he had diagnosed with “edema of the lungs”. He described chest X-rays with edema and non-specific changes on EKG. Even though these cases had been termed high altitude pneumonia in the past, Houston indicated that these cases were “acute pulmonary edema without heart disease”.
Research
To help understand factors that make some individuals susceptible to HAPE, the International HAPE Database was set up in 2004. The database is administered by APEX, a high altitude medical research charity. A few cases support the possibility of reascent following recovery and acclimatization after an episode of HAPE precipitated by rapid ascent.
See also
Hazards of outdoor recreation
High-altitude cerebral edema (HACE)
High-altitude flatus expulsion (HAFE)
References
== External links == |
Arcus senilis | Arcus senilis (AS), also known as gerontoxon, arcus lipoides, arcus cornae, corneal arcus, arcus adiposus, or arcus cornealis, are rings in the peripheral cornea. It‘s usually caused by cholesterol deposits, so it may be a sign of high cholesterol. It is the most common peripheral corneal opacity, and is usually found in the elderly where it is considered a benign condition. When AS is found in patients less than 50 years old it is termed arcus juvenilis. The finding of arcus juvenilis in combination with hyperlipidemia in younger men represents an increased risk for cardiovascular disease.
Pathophysiology
AS is caused by leakage of lipoproteins from limbal capillaries into the corneal stroma. Deposits have been found to consist mostly of low-density lipoprotein (LDL). Deposition of lipids into the cornea begins at the superior and inferior aspects, and progresses to encircle the entire peripheral cornea. The interior border of AS has a diffuse appearance, while the exterior border is well demarcated. The clear space between the exterior border and the limbus is called the interval of vogt.Bilateral AS is a benign finding in the elderly, but it can be associated with hyperlipidemia in patients less than 50 years old. Bilateral AS may also be caused by increased levels of free fatty acids in the circulation secondary to alcohol use.Unilateral AS can be associated with contralateral carotid artery stenosis or decreased intraocular pressure in the affected eye. As these are serious medical conditions, unilateral AS should be examined by a physician.
Diagnosis
AS is usually diagnosed through visual inspection by an ophthalmologist or optometrist using a slit lamp.
Differential diagnoses
Several conditions can have a similar color and appearance.
Limbus sign is caused by dystrophic calcification at the corneal limbus, and can be confused with AS in geriatric populations.
Anterior embryotoxon is a congenital widening of the corneal limbus.
Posterior embryotoxon is a congenital thickening and anterior displacement of schwalbes line.Other conditions with similar appearance, but differing in color are limbal ring, and Kayser–Fleischer ring.
Treatment
In the elderly, arcus senilis is a benign condition that does not require treatment. The presence of an arcus senilis in males under the age of 50 may represent a risk factor for cardiovascular disease, and these individuals should be screened for an underlying lipid disorder. The opaque ring in the cornea does not resolve with treatment of a causative disease process, and can create cosmetic concerns.
Epidemiology
In men, AS is increasingly found starting at age 40, and is present in nearly 100% of men over the age of 80. For women, onset of AS begins at age 50 and is present in nearly all females by age 90.
Risk factor for cardiovascular disease
AS is not an independent predictor of cardiovascular disease, as demonstrated by a prospective cohort study of 12,745 Danes aged 20-93 followed up for an average of 22 years.The presence of AS in men less than 50 years old(arcus juvenilis) in combination with an underlying condition causing hyperlipidemia has been shown to significantly increase the relative risk of mortality from cardiovascular disease and coronary artery disease. As demonstrated by a study following 6,069 Americans aged 30-69 for an average of 8.4 years.The presence of AS in men less than 50 years old(arcus juvenilis) in conjunction with xanthomas on the achilles tendon has been linked to the presence of atherosclerosis in the coronary arteries and aorta by computed tomography.
See also
Limbal ring
Limbus sign
Xanthelasma
== References == |
Trichilemmal carcinoma | Trichilemmal carcinoma is a cutaneous condition reported to arise on sun-exposed areas, most commonly the face and ears.: 674
See also
Trichilemmoma
Skin lesionA similar tumor, although in the nail bed, is called onycholemmal.
References
== External links == |
Pilocytic astrocytoma | Pilocytic astrocytoma (and its variant pilomyxoid astrocytoma) is a brain tumor that occurs most commonly in children and young adults (in the first 20 years of life). They usually arise in the cerebellum, near the brainstem, in the hypothalamic region, or the optic chiasm, but they may occur in any area where astrocytes are present, including the cerebral hemispheres and the spinal cord. These tumors are usually slow growing and benign, corresponding to WHO malignancy grade 1.
Signs and symptoms
Children affected by pilocytic astrocytoma can present with different symptoms that might include failure to thrive (lack of appropriate weight gain/ weight loss), headache, nausea, vomiting, irritability, torticollis (tilt neck or wry neck), difficulty to coordinate movements, and visual complaints (including nystagmus). The complaints may vary depending on the location and size of the neoplasm. The most common symptoms are associated with increased intracranial pressure due to the size of the tumor mass.
Causes
Pilocytic astrocytoma can be associated with the genetic condition neurofibromatosis type 1 (NF1), and optic nerve gliomas are among the most frequently encountered tumors in patients with this disorder. The majority of pilocytic astrocytomas, however, arise sporadically - with no evidence of a link to an underlying hereditary predisposition or lifestyle factor. They are associated with genetic alterations in the MAPK/ERK pathway, most frequently a characteristic KIAA1549-BRAF fusion gene.
Diagnosis
Usually – depending on the interview of the patient and after a clinical exam which includes a neurological exam and an ophthalmological exam – a CT scan and/or an MRI scan will be performed to confirm the presence of a tumor. They are usually easily distinguishable from normal brain structures using these imaging techniques. A special dye may be injected into a vein before these scans to provide contrast and make tumors easier to identify. Pilocytic astrocytomas are typically clearly visible on such scans, but it is often difficult to say based on imaging alone what type of tumor is present.
If a tumor is found, it will be necessary for a neurosurgeon to perform a biopsy of it. This involves the removal of a small amount of tumorous tissue, which is then sent to a (neuro)pathologist for examination and staging. The biopsy may take place before surgical removal of the tumor, or the sample may be taken during surgery to remove the bulk of the tumor.
Microscopic appearance
Pilocytic astrocytomas are often cystic tumors, and, if solid, tend to be well-circumscribed.
Under the microscope, the tumor is seen to be composed of bipolar cells with long "hair-like" GFAP-positive processes, giving the designation "pilocytic" (that is, made up of cells that look like fibers when viewed under a microscope). Some pilocytic astrocytomas may be more fibrillary and dense in composition. The presence of Rosenthal fibers, eosinophilic granular bodies, and microcysts can often be seen. Myxoid foci and oligodendroglioma-like cells may also be present, though these are not specific to pilocytic astrocytoma. Long-standing lesions may show hemosiderin-laden macrophages and calcifications.
Treatment
The most common form of treatment is having the tumor surgically removed. Complete removal of the tumor will generally allow functional survival for many years. In particular for pilocytic astrocytomas (commonly indolent masses that may permit normal neurologic function), surgeons may decide to monitor the neoplasms evolution and postpone surgical intervention for some time. However, total resection is often not possible. The location could prohibit access to the neoplasm and lead to incomplete or no resection at all. Left unattended, these tumors may eventually lead to further symptoms due to continued slow growth. Extremely rarely, they may also undergo malignant transformation.
If surgery is not possible, recommendations such as chemotherapy or radiation may be suggested. However, side effects from these treatments can be extensive and long term, resulting in some cases in life-long difficulties.
Side effects
After treatment, children with pilocytic astrocytoma may experience an improvement of symptoms related to the tumor itself depending on the location, but may also experience side effects related to the treatment:
Symptoms related to increased pressure in the brain often disappear after surgical removal of the tumor.
Effects on coordination and balance may improve and might progressively (to completely) disappear as recovery progresses.
Steroid treatment is often used to control tissue swelling that may occur pre-and post-operatively.
Patients can, however, also develop long-term side effects due to the type of treatment they may receive.
Prognosis
In keeping with their assignment as WHO grade 1, pilocytic astrocytoma is not usually associated with recurrence after complete resection. The pilomyxoid astrocytoma variant may behave more aggressively than classic pilocytic astrocytoma, but this might also be associated with the younger age at presentation and their more frequent midline location.
In cases of progressive/recurrent disease or when maximal surgical removal has been achieved but some residual tumor remains, chemotherapy and/or radiation therapy may be considered by the medical team.
Incidence
Regularly updated statistics about the incidence, epidemiology, and survival outcomes of brain tumors can be found in the annual reports of the Central Brain Tumor Registry of the United States (CBTRUS). These figures suggest that an average of just over 1,000 pilocytic astrocytomas are diagnosed per year in the US, representing about 1% of all CNS tumors. In children, however, the proportion is much higher. Pilocytic astrocytoma is the single most common childhood brain tumor, accounting for almost 20% of brain tumors diagnosed in 0-14 year-olds, with a peak incidence between 5–14 years of age.
Additional images
References
== External links == |
Salla disease | Salla disease (SD) is an autosomal recessive lysosomal storage disease characterized by early physical impairment and intellectual disability. It was first described in 1979, after Salla, a municipality in Finnish Lapland. Salla disease is one of 40 Finnish heritage diseases and affects approximately 130 individuals, mainly from Finland and Sweden.
Presentation
Individuals with Salla disease may present with nystagmus in the first months of life as well as hypotonia, reduced muscle tone and strength, and cognitive impairment. The most severely impaired children do not walk or acquire language, but the typical patient learns to walk and speak and has normal life expectancy. The MRI shows arrested or delayed myelination.
Genetics
SD is caused by a mutation in the SLC17A5 gene, located at human chromosome 6q14-15. This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.The disease is inherited in an autosomal recessive manner. This means the defective gene responsible for the disorder is located on an autosome (chromosome 6 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene, but usually do not experience any signs or symptoms of the disorder.
Diagnosis
A diagnosis of this disorder can be made by measuring urine to look for elevated levels of free sialic acid. Prenatal testing is also available for known carriers of this disorder.
Treatment
There is no cure for Salla disease. Treatment is limited to controlling the symptoms of this disorder. Anti-convulsant medication may control seizure episodes. Physical therapists can assist an affected individual to build muscle strength and coordination.
Prognosis
The life expectancy for individuals with Salla disease is between the ages of 50 and 60.
See also
Infantile free sialic acid storage disease (ISSD)
References
External links
GeneReview/NIH/UW entry on Free Sialic Acid Storage Disorders |
Impulse-control disorder | Impulse-control disorder (ICD) is a class of psychiatric disorders characterized by impulsivity – failure to resist a temptation, an urge, or an impulse; or having the inability to not speak on a thought. Many psychiatric disorders feature impulsivity, including substance-related disorders, behavioral addictions, attention deficit hyperactivity disorder, fetal alcohol spectrum disorders, antisocial personality disorder, borderline personality disorder, conduct disorder and some mood disorders.
The fifth edition of the American Psychiatric Associations Diagnostic and statistical manual of mental disorders (DSM-5) that was published in 2013 includes a new chapter (not in DSM-IV-TR) on disruptive, impulse-control, and conduct disorders covering disorders "characterized by problems in emotional and behavioral self-control". Five behavioral stages characterize impulsivity: an impulse, growing tension, pleasure on acting, relief from the urge, and finally guilt (which may or may not arise).
Types
Disorders characterized by impulsivity that were not categorized elsewhere in the DSM-IV-TR were also included in the category "Impulse-control disorders not elsewhere classified". Trichotillomania (hair-pulling) and skin-picking were moved in DSM-5 to the obsessive-compulsive chapter. Additionally, other disorders not specifically listed in this category are often classed as impulsivity disorders. Terminology was changed in the DSM-V from "Not Otherwise Classified" to "Not Elsewhere Classified".
Sexual compulsion
Sexual compulsion includes an increased urge in sexual behavior and thoughts. This compulsion may also lead to several consequences in the individuals life, including risky partner selection, increased chance for STIs and depression, as well as unwanted pregnancy. There has not yet been a determined estimate of its prevalence due to the secretiveness of the disorder. However, research conducted in the early 1990s in the United States gave prevalence estimates between 5–6% in the U.S. population, with male cases being higher than female.
Internet addiction
The disorder of Internet addiction has only recently been taken into consideration and has been added as a form of ICD. It is characterized by excessive and damaging usage of Internet with increased amount of time spent chatting, web surfing, gambling, shopping or consuming pornography. Excessive and problematic Internet use has been reported across all age, social, economic, and educational ranges. Although initially thought to occur mostly in males, increasing rates have been also observed in females. However, no epidemiological study has been conducted yet to understand its prevalence.
Compulsive shopping
Compulsive shopping or buying is characterized by a frequent irresistible urge to shop even if the purchases are not needed or cannot be afforded. The prevalence of compulsive buying in the U.S. has been estimated to be 2–8% of the general adult population, with 80–95% of these cases being females. The onset is believed to occur in late teens or early twenties and the disorder is considered to be generally chronic.
Pyromania
Pyromania is characterized by impulsive and repetitive urges to deliberately start fires.
Because of its nature, the number of studies performed for fire-setting are understandably limited. However, studies done on children and adolescents with pyromania have reported its prevalence to be between 2.4 and 3.5% in the United States. It has also been observed that the incidence of fire-setting is more common in juvenile and teenage boys than girls of the same age.
Intermittent explosive disorder
Intermittent explosive disorder or IED is a clinical condition of experiencing recurrent aggressive episodes that are out of proportion of any given stressor. Earlier studies reported a prevalence rate between 1–2% in a clinical setting, however a study done by Coccaro and colleagues in 2004 had reported about 11.1% lifetime prevalence and 3.2% one month prevalence in a sample of a moderate number of individuals (n=253). Based on the study, Coccaro and colleagues estimated the prevalence of IED in 1.4 million individuals in the US and 10 million with lifetime IED.
Kleptomania
Kleptomania is characterized by an impulsive urge to steal purely for the sake of gratification.
In the U.S. the presence of kleptomania is unknown but has been estimated at 6 per 1000 individuals. Kleptomania is also thought to be the cause of 5% of annual shoplifting in the U.S. If true, 100,000 arrests are made in the U.S. annually due to kleptomaniac behavior.
Signs and symptoms
The signs and symptoms of impulse-control disorders vary based on the age of the persons with them, the actual type of impulse-control that they are struggling with, the environment in which they are living, and whether they are male or female.
Co-morbidity
Complications of late Parkinsons disease may include a range of impulse-control disorders, including eating, buying, compulsive gambling, sexual behavior, and related behaviors (punding, hobbyism and walkabout). Prevalence studies suggest that ICDs occur in 13.6–36.0% of Parkinsons patients exhibited at least one form of ICD. There is a significant co-occurrence of pathological gambling and personality disorder, and is suggested to be caused partly by their common "genetic vulnerability". The degree of heritability to ICD is similar to other psychiatric disorders including substance use disorder. There has also been found a genetic factor to the development of ICD just as there is for substance use disorder. The risk for subclinical PG in a population is accounted for by the risk of alcohol dependence by about 12–20% genetic and 3–8% environmental factors. There is a high rate of co-morbidity between ADHD and other impulse-control disorders.
Mechanism
Dysfunction of the striatum may prove to be the link between OCD, ICD and SUD. According to research, the impulsiveness that occurs in the later stages of OCD is caused by progressive dysfunction of the ventral striatal circuit. Whereas in case of ICD and SUD, the increased dysfunction of dorsal striatal circuit increases the "ICD and SUD behaviours that are driven by the compulsive processes". OCD and ICD have traditionally been viewed as two very different disorders, the former one is generally driven by the desire to avoid harm whereas the latter one driven "by reward-seeking behaviour". Still, there are certain behaviors similar in both, for example the compulsive actions of ICD patients and the behavior of reward-seeking (for example hoarding) in OCD patients.
Treatment
Impulse-control disorders have two treatment options: psychosocial and pharmacological. Treatment methodology is informed by the presence of comorbid conditions.
Medication
In the case of pathological gambling, along with fluvoxamine, clomipramine has been shown effective in the treatment, with reducing the problems of pathological gambling in a subject by up to 90%. Whereas in trichotillomania, the use of clomipramine has again been found to be effective, fluoxetine has not produced consistent positive results. Fluoxetine, however, has produced positive results in the treatment of pathological skin picking disorder, although more research is needed to conclude this information. Fluoxetine has also been evaluated in treating IED and demonstrated significant improvement in reducing frequency and severity of impulsive aggression and irritability in a sample of 100 subjects who were randomized into a 14-week, double-blind study. Despite a large decrease in impulsive aggression behavior from baseline, only 44% of fluoxetine responders and 29% of all fluoxetine subjects were considered to be in full remission at the end of the study. Paroxetine has shown to be somewhat effective although the results are inconsistent. Another medication, escitalopram, has shown to improve the condition of the subjects of pathological gambling with anxiety symptoms. The results suggest that although SSRIs have shown positive results in the treatment of pathological gambling, inconsistent results with the use of SSRIs have been obtained which might suggest a neurological heterogeneity in the impulse-control disorder spectrum.
Psychosocial
The psychosocial approach to the treatment of ICDs includes cognitive behavioral therapy (CBT) which has been reported to have positive results in the case of treatment of pathological gambling and sexual addiction. There is general consensus that cognitive-behavioural therapies offer an effective intervention model.
Pathological gambling
Systematic desensitization, aversive therapy, covert sensitization, imaginal desensitization, and stimulus control have been proven to be successful in the treatments to the problems of pathological gambling. Also, "cognitive techniques such as psychoeducation, cognitive-restructuring, and relapse prevention" have proven to be effective in the treatments of such cases.
Pyromania
Pyromania is harder to control in adults due to lack of co-operation; however, CBT is effective in treating child pyromaniacs. (Frey 2001)
Intermittent explosive disorder
Along with several other methods of treatments, cognitive behavioural therapy has also shown to be effective in the case of Intermittent explosive disorder as well. Cognitive Relaxation and Coping Skills Therapy (CRCST), which consists of 12 sessions starting first with the relaxation training followed by cognitive restructuring, then exposure therapy is taken. Later, the focus is on resisting aggressive impulses and taking other preventative measures.
Kleptomania
In the case of kleptomania, the cognitive behaviour techniques used in these cases consists of covert sensitization, imaginal desensitization, systematic desensitization, aversion therapy, relaxation training, and "alternative sources of satisfaction".
Compulsive buying
Although compulsive buying falls under the category of Impulse-control disorder – Not Otherwise Specified in the DSM-IV-TR, some researchers have suggested that it consists of core features that represent impulse-control disorders which includes preceding tension, difficult to resist urges and relief or pleasure after action. The efficiency of cognitive behavior therapy for compulsive buying is not truly determined yet; however, common techniques for the treatment include exposure and response prevention, relapse prevention, cognitive restructuring, covert sensitization, and stimulus control.
See also
Behavioral addiction
Body-focused repetitive behavior
Child pyromaniac
Dopamine dysregulation syndrome
References
== External links == |
Iliopsoas bursitis | Iliopsoas bursitis is inflammation of a bursa (synovial sac) lying between iliopsoas muscle and hip joint, lateral to femoral vessels. Pain is experienced over the same area and made worse by extension of hip joint.
== References == |
Tracheomalacia | Tracheomalacia is a condition or incident where the cartilage that keeps the airway (trachea) open is soft such that the trachea partly collapses especially during increased airflow. This condition is most commonly seen in infants and young children. The usual symptom is stridor when a person breathes out. This is usually known as a collapsed windpipe.
The trachea normally opens slightly during breathing in and narrows slightly during breathing out. These processes are exaggerated in tracheomalacia, leading to airway collapse on breathing out.
If the condition extends further to the large airways (bronchi) (if there is also bronchomalacia), it is termed tracheobronchomalacia. The same condition can also affect the larynx, which is called laryngomalacia. The term is from trachea and the Greek μαλακία, softening
Signs and symptoms
Tracheomalacia occurs when the walls of the trachea collapse. This can happen because the walls of the windpipe are weak, or it can happen because something is pressing on it. This may include hypotonia of the trachealis muscle. The whole windpipe can be affected, or only a short piece of it. If the collapsed part of the windpipe goes past the area where the windpipe branches off into the two lungs, it is called bronchomalacia.This problem causes noisy or difficult breathing in the first 1 to 2 months after birth. This is called congenital tracheomalacia (it was present at birth). It is not very common. Babies born with tracheomalacia may have other health issues like a heart defect, reflux or developmental delay. Some children get tracheomalacia because of other health issues. Symptoms can be mild to severe.Symptoms inside the lung include noisy breathing that may get better when you change your babys position or while he or she is asleep. Breathing problems that get worse during coughing, crying, feeding or colds. High-pitched sound during breathing (stridor).
High-pitched cough. Rattling noise or wheezing with breathing.
Diagnosis
There is no standardized, defined set of diagnostic criteria for the diagnosis of tracheomalacia, mainly due to the nonspecific symptoms associated with it. Current diagnostic approaches include pulmonary function testing which shows a characteristic reduction in peak expiratory flow (PEF), physical examination, and imaging such as computed tomography (CT) or magnetic resonance imaging (MRI), fiberoptic bronchoscopy (FB) is considered the best diagnostic method because an inserted camera down the throat shows a direct view of the airways and lungs, detecting changes in the size or appearance of the tracheas lumen and mucosa and any signs of inflammation, fistulas, or external compressions to precisely determine the location and severity of the malacia. Cross-sectional radiological images are important in detecting mediastinal structures involved in TM prior to surgery. Tracheography/Bronchography is no longer a preferred diagnostic method. Bronchography provides an accurate measurement of the airway lumen with a dynamic and morphological evaluation of the tracheobronchial tree. However, this requires the injection of contrast material within the narrowed airway. Risks include allergic reaction, airway plugging, or complete airway obstruction.
Classifications
There are three types of tracheomalacia:
Type 1—congenital, sometimes associated with tracheoesophageal fistula or esophageal atresia
Type 2—extrinsic compression sometimes due to vascular rings
Type 3—acquired due to chronic infection or prolonged intubation or inflammatory conditions like relapsing polychondritis
Treatment
According to the 2012 Cochrane review, there is no evidence supporting medical therapy over surgical therapy for significant tracheomalacia, or vice versa. Current recommendations for mild to moderate non-life-threatening tracheomalacia focuses on symptom management.
Regular use of hypertonic saline nebulizers
Low dose inhaled steroids may help decrease airway inflammation and swelling
Inhaled Ipratropium may help decrease secretions and stiffen smaller airways
Antibiotics during active respiratory infection may decrease severity and length of symptoms
Continuous Airway Positive Pressure (CPAP) provides additional intraluminal pressureLife is usually saved if the airway is opened via a hole in the throat. If a person survives, they may have symptoms, but usually will get better after the airway is reopened. If the symptoms are severe enough, treatment may be needed. These range from medical management over mechanical ventilation (both continuous positive airway pressure (CPAP), or bi-level positive airway pressure (BiPAP) to tracheal stenting and surgery.
Surgical techniques include aortopexy, tracheopexy, tracheobronchoplasty, and tracheostomy. The role of the nebulised recombinant human deoxyribonuclease (rhDNase) remains inconclusive.
See also
Tracheal collapse for the condition in dogs
References
== External links == |
Dyssomnia | Dyssomnias are a broad classification of sleeping disorders involving difficulty getting to sleep, remaining asleep, or of excessive sleepiness.
Dyssomnias are primary disorders of initiating or maintaining sleep or of excessive sleepiness and are characterized by a disturbance in the amount, quality, or timing of sleep.
Patients may complain of difficulty getting to sleep or staying asleep, intermittent wakefulness during the night, early morning awakening, or combinations of any of these. Transient episodes are usually of little significance. Stress, caffeine, physical discomfort, daytime napping, and early bedtimes are common factors.
Types
There are over 31 recognized kinds of dyssomnias. The major three groups, along with the group types, include:: 15 Intrinsic sleep disorders: 15
idiopathic hypersomnia,
narcolepsy,
periodic limb movement disorder,
restless legs syndrome,
obstructive sleep apnea,
central sleep apnea syndrome,
sleep state misperception,
psychophysiologic insomnia,
recurrent hypersomnia,
post-traumatic hypersomnia,
central alveolar hypoventilation syndrome,
Extrinsic sleep disorders – 13 disorders recognized, including: 16 alcohol-dependent sleep disorder,
food allergy insomnia,
inadequate sleep routine.
Circadian rhythm sleep disorders, both intrinsic and extrinsic – 6 disorders recognized, including: 16 advanced sleep phase syndrome,
delayed sleep phase syndrome,
jetlag,
shift work sleep disorder.
See also
Parasomnia
Sleep problems in women
Somnolence
References
== External links == |
Plastic bronchitis | Plastic bronchitis (PB) is a disorder in which branching casts of the airways are expectorated. PB is not a single disease with a defined mechanism that explains the cast formation in all conditions. Examples of diseases associated with expectoration of casts, and which sometimes are labeled PB include tuberculosis, atypical mycobacterial disease, allergic bronchopulmonary aspergillosis, and asthma.
When casts are very large with many branches, an abnormal communication or leakage of lymphatic fluid into the airway is often the cause. This entity is termed lymphatic plastic bronchitis (LPB). LPB is a lymphatic flow disorder characterized by the recurrent formation of branching, rubbery bronchial casts composed primarily of proteinaceous and sometimes chylous material and lymphocytes. Lymphatic fluids deposited into the airspaces become gelatinous as they cool, forming large string cheese-like casts of the airways, which can obstruct airflow. Attempts to expectorate casts can be quite frightening, leading to fears of asphyxiation.
Signs and symptoms
The clinical presentation of plastic bronchitis beyond expectoration of casts includes a productive cough, dyspnea, fever and wheezing. Focal wheezing is a characteristic, if not specific, physical examination finding. If the casts completely obstruct the airway, breath sounds will be decreased and dullness will be present with percussion. With partial obstruction, a “fan sound” or “flag flapping” sound can be heard during auscultation. Bronchial casts can sometimes fill the airways of almost an entire lung, and present as an acute, life-threatening emergency.
Pathology
The majority of PB cases are associated with an underlying disease. Several systemic illnesses have been associated with plastic bronchitis:
Cardiac: constrictive pericarditis, congenital heart disease
Pulmonary: asthma, allergic bronchopulmonary aspergillosis, aspergillosis, bronchiectasis, cystic fibrosis, tuberculosis, pneumonia, and bronchocentric granulomatosis
Disorders of lymphatic drainage: lymphangiectasia, lymphangiomatosis
Miscellaneous: acute chest syndrome/sickle cell disease, amyloidosis, rheumatoid arthritis, membranous colitis, inhaled irritants, neoplastic (lymphoma)The most common form of plastic bronchitis follows cardiac surgery for congenital heart disease, especially the Fontan procedure. Systemic blood flow is diverted to pulmonary flow, elevating pressures in the pulmonary venous system, and promoting leaks of proteinaceous and lipid-rich fluids from the lymphatics into the bronchial tree.
Diagnosis
The diagnosis of plastic bronchitis is confirmed by recovery of casts that have been coughed up or visualized during a bronchoscopy. There is no specific cytologic, pathologic or laboratory test that is diagnostic for casts due to lymphatic PB.
Imaging
Simple chest X-rays may reveal collapse due to airway obstruction. The contralateral lung may be hyperinflated. Casts can be visualized within the major airways using computerized axial tomography scans.Heavy T2-weighted MRI, and, as appropriate, intranodal lymphangiogram and/or dynamic contrast-enhanced MR lymphangiography may be useful for identifying pathological lymphatic tissue or lymphatic flow.
Management
Acute therapy for PB is often focused on removal or facilitated expectoration of the casts. This is followed by short and long term efforts to identify and remediate the underlying condition resulting in the excessive airway leakage or inflammation that is causing the casts to form.PB can present as a life threatening emergency when the casts obstruct the major airways resulting in acute respiratory distress. Intervention by a skilled physician experienced with foreign body removal from the lungs is essential. Evaluation by means of bronchoscopy can be difficult and time consuming and is best performed under general anesthesia.
Casts can be removed mechanically by bronchoscopy or physical therapy. High-frequency chest wall oscillation can also be used to vibrate the chest wall at a high frequency to try to loosen and thin the casts. Inhaled therapy using bronchodilators, corticosteroids or mucolytics can be used to try to disrupt the cast formation. Guaifenesin syrup or tablets can assist in loosening existing casts for expectoration.
Recently, heavy T2-weighted MRI has revealed that occult lymphatic anomalies that represent developmental remnants or subclinical GLA are present in adults who present with expectoration of large multiantennary, branching casts. Intranodal lymphangiogram and dynamic contrast-enhanced MR lymphangiography have been used to more precisely image the leaks, and in the small number of patients who have been treated to date, embolization of the thoracic duct has been highly successful in controlling cast formation.Cannulation of the thoracic duct followed by embolization should be considered in those patients who are shown to have leakage of lymphatic fluid into the airway.
Medications
Therapeutic interventions with medium-chain triglyceride-enriched low-fat diets, intratracheal heparin, inhaled tissue plasminogen activator, and steroids have also been reported and have met with variable success.Expectorants such as guaifenesin increase thinner secretions and lubricate the airways, allowing loosening and possible self-expulsion of casts.
Inhaled mucolytics: Potassium iodide and acetylcysteine inhaled therapy are often used to help the patient cough up the casts by breaking down the thick mucus formations.
Inhaled and oral steroids: If PB is associated with asthma or an infection, inhaled and oral steroids have been shown to be effective.
Prognosis
Patients with plastic bronchitis that is being caused due to a co-morbid condition generally have a good prognosis once the underlying disease is treated.
Epidemiology
To date, about 420 cases have been reported in the medical literature. Given its unusual nature, the true prevalence of PB is unknown, and it is likely that many patients are undiagnosed. PB does affect patients of all age groups and genders.
== References == |
Hypotonia | Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Hypotonia is a lack of resistance to passive movement, whereas muscle weakness results in impaired active movement. Central hypotonia originates from the central nervous system, while peripheral hypotonia is related to problems within the spinal cord, peripheral nerves and/or skeletal muscles. Severe hypotonia in infancy is commonly known as floppy baby syndrome. Recognizing hypotonia, even in early infancy, is usually relatively straightforward, but diagnosing the underlying cause can be difficult and often unsuccessful. The long-term effects of hypotonia on a childs development and later life depend primarily on the severity of the muscle weakness and the nature of the cause. Some disorders have a specific treatment but the principal treatment for most hypotonia of idiopathic or neurologic cause is physical therapy and/or occupational therapy for remediation.
Hypotonia is thought to be associated with the disruption of afferent input from stretch receptors and/or lack of the cerebellum’s facilitatory efferent influence on the fusimotor system, the system that innervates intrafusal muscle fibers thereby controlling muscle spindle sensitivity. On examination a diminished resistance to passive movement will be noted and muscles may feel abnormally soft and limp on palpation. Diminished deep tendon reflexes also may be noted. Hypotonia is a condition that can be helped with early intervention.
Signs and symptoms
Central hypotonia accounts for 60 to 80% of all hypotonia in infants. Hypotonic patients may display a variety of objective manifestations that indicate decreased muscle tone. Motor skills delay is often observed, along with hypermobile or hyperflexible joints, drooling and speech difficulties, poor reflexes, decreased strength, decreased activity tolerance, rounded shoulder posture, with leaning onto supports, and poor attention. The extent and occurrence of specific objective manifestations depends upon the age of the patient, the severity of the hypotonia, the specific muscles affected, and sometimes the underlying cause. For instance, some people with hypotonia may experience constipation, while others have no bowel problems.
Floppy baby syndrome
The term "floppy infant syndrome" is used to describe abnormal limpness when an infant is born, affecting limbs, trunk, and head. Such condition may appear immediately after birth or during early life as inability to maintain proper posture during movement and rest. In severe cases, hypotonic infants often have difficulty feeding, as their mouth muscles cannot maintain a proper suck-swallow pattern, or a good breastfeeding latch.
Developmental delay
Children with normal muscle tone are expected to achieve certain physical abilities within an average timeframe after birth. Most low-tone infants have delayed developmental milestones, but the length of delay can vary widely. Motor skills are particularly susceptible to the low-tone disability. They can be divided into two areas, gross motor skills, and fine motor skills, both of which are affected. Hypotonic infants are late in lifting their heads while lying on their stomachs, rolling over, lifting themselves into a sitting position, remaining seated without falling over, balancing, crawling, and sometimes walking. Fine motor skills delays occur in grasping a toy or finger, transferring a small object from hand to hand, pointing out objects, following movement with the eyes, and self-feeding.Speech difficulties can result from hypotonia. Low-tone children learn to speak later than their peers, even if they appear to understand a large vocabulary, or can obey simple commands. Difficulties with muscles in the mouth and jaw can inhibit proper pronunciation, and discourage experimentation with word combination and sentence-forming. Since the hypotonic condition is actually an objective manifestation of some underlying disorder, it can be difficult to determine whether speech delays are a result of poor muscle tone, or some other neurological condition, such as intellectual disability, that may be associated with the cause of hypotonia. Additionally, lower muscle tone can be caused by Mikhail-Mikhail syndrome, which is characterized by muscular atrophy and cerebellar ataxia which is due to abnormalities in the ATXN1 gene.
Muscle tone vs. muscle strength
The low muscle tone associated with hypotonia must not be confused with low muscle strength or the definition commonly used in bodybuilding. Neurologic muscle tone is a manifestation of periodic action potentials from motor neurons. As it is an intrinsic property of the nervous system, it cannot be changed through voluntary control, exercise, or diet.
"True muscle tone is the inherent ability of the muscle to respond to a stretch. For example, quickly straightening the flexed elbow of an unsuspecting child with normal tone, will cause their biceps to contract in response (automatic protection against possible injury). When the perceived danger has passed, (which the brain figures out once the stimulus is removed), the muscle relaxes and returns to its normal resting state.""...The child with low tone has muscles that are slow to initiate a muscle contraction, contract very slowly in response to a stimulus, and cannot maintain a contraction for as long as his normal peers. Because these low-toned muscles do not fully contract before they again relax (muscle accommodates to the stimulus and so shuts down again), they remain loose and very stretchy, never realizing their full potential of maintaining a muscle contraction over time. "
Cause
The most common cause of central hypotonia in newborns is hypoxic ischemic encephalopathy. Brain malformations and inborn errors of metabolism account for 13% and 3% respectively. Causes that affects the central nervous systems are: chromosomal disorders, inborn errors of metabolism, cerebral dysgenesis, and trauma to the brain and spinal cord. Metabolic causes includes: glycogen storage disease type II, pyruvate dehydrogenase deficiency, mitochondrial disease, Zellweger syndrome, Smith–Lemli–Opitz syndrome, and congenital disorder of glycosylation. Metabolic disorders in infants are usually presented with various other features such as dysmorphic feature, seizures, encephalopathy, biochemistry profile apart from hypotonia.Some conditions known to cause hypotonia include:
Congenital – i.e. disease a person is born with (including genetic disorders presenting within 6 months)
Genetic disorders are the most common cause
22q13 deletion syndrome a.k.a. Phelan–McDermid syndrome
3-Methylcrotonyl-CoA carboxylase deficiency
Achondroplasia
Aicardi syndrome
Autism spectrum disorders
Canavan disease
Centronuclear myopathy (including myotubular myopathy)
Central core disease
CHARGE syndrome
Cohen syndrome
Costello syndrome
Dejerine–Sottas disease (HMSN Type III)
Down syndrome a.k.a. trisomy 21 — most common
Ehlers–Danlos syndrome
Familial dysautonomia (Riley–Day syndrome)
FG syndrome
Fragile X syndrome
Griscelli syndrome Type 1 (Elejalde syndrome)
Holocarboxylase synthetase deficiency / Multiple carboxylase deficiency
Krabbe disease
Leighs disease
Lesch–Nyhan syndrome
Marfans syndrome
Menkes syndrome
Methylmalonic acidemia
Myotonic dystrophy
Niemann–Pick disease
Nonketotic hyperglycinemia (NKH) or Glycine encephalopathy (GCE)
Noonan syndrome
Neurofibromatosis
Patau syndrome a.k.a. trisomy 13
Pituitary dwarfism/growth hormone deficiency(in adults)
Prader–Willi syndrome
Rett syndrome
Septo-optic dysplasia (de Morsier syndrome)
Snyder–Robinson syndrome (SRS)
Spinal muscular atrophy (SMA)
Succinic semialdehyde dehydrogenase deficiency (SSADH)
Tay–Sachs disease
Werdnig–Hoffmann syndrome – Spinal muscular atrophy with congenital degeneration of anterior horns of spinal cord. Autosomal recessive
Wiedemann–Steiner syndrome
Williams syndrome
Zellweger syndrome a.k.a. cerebrohepatorenal syndrome
Developmental disability
Cerebellar ataxia (congenital)
Sensory processing disorder
Developmental coordination disorder
Hypothyroidism (congenital)
Hypotonic cerebral palsy
Teratogenesis from in utero exposure to Benzodiazepines
Acquired
Acquired – i.e. onset occurs after birth
Genetic
Muscular dystrophy (including Myotonic dystrophy) – most common
Metachromatic leukodystrophy
Rett syndrome
Spinal muscular atrophy
Infections
Encephalitis
Guillain–Barré syndrome
Infant botulism
Meningitis
Poliomyelitis
Sepsis
Toxins
Infantile acrodynia (childhood mercury poisoning)
Autoimmunity disorders
Myasthenia gravis – most common
Abnormal vaccine reaction
Celiac disease
Metabolic disorder
Hypervitaminosis
Kernicterus
Rickets
Neurological
Traumatic brain injury, such as the damage that is caused by shaken baby syndrome
Lower motor neuron lesions
Upper motor neuron lesions
Miscellaneous
Central nervous system dysfunction, including cerebellar lesions and cerebral palsy
Hypothyroidism
Sandifer syndrome
Neonatal benzodiazepine withdrawal syndrome in children born to mothers treated in late pregnancy with benzodiazepine medications
Diagnosis
The approach to diagnosing the cause of hypotonia (as with all syndromes in neurology) is first localization. The physician must first determine if the hypotonia is due to muscle, neuromuscular junction, nerve, or central cause. This will narrow the possible causes. If the cause of the hypotonia is found to lie in the brain, then it can be classified as a cerebral palsy. If the cause is localized to the muscles, it can be classified as a muscular dystrophy. If the cause is thought to be in the nerves, it is called hypotonia due to polyneuropathy. Many cases cannot be definitively diagnosed.Diagnosing a patient includes obtaining family medical history and a physical examination, and may include such additional tests as computerized tomography (CT) scans, magnetic resonance imaging (MRI) scans, electroencephalogram (EEG), blood tests, genetic testing (such as chromosome karyotyping and tests for specific gene abnormalities), spinal taps, electromyography muscle tests, or muscle and nerve biopsy.Mild or benign hypotonia is often diagnosed by physical and occupational therapists through a series of exercises designed to assess developmental progress, or observation of physical interactions. Since a hypotonic child has difficulty deciphering his spatial location, he may have some recognizable coping mechanisms, such as locking the knees while attempting to walk. A common sign of low-tone infants is a tendency to observe the physical activity of those around them for a long time before attempting to imitate, due to frustration over early failures. Developmental delay can indicate hypotonia.MRI Brain is used to rule out structural malformations in the brain or metabolic disorders. Magnetic resonance spectroscopic imaging is used to detect metabolic disorders.
Treatment
The outcome in any particular case of hypotonia depends largely on the nature of the underlying disease. In some cases, the underlying cause is treatable. But in general, treatment comprises providing supportive care with rehabilitation services, nutritional and respiratory support.Along with normal pediatric care, specialists who may be involved in the care of a child with hypotonia include developmental pediatricians (specialize in child development), neurologists, neonatologists (specialize in the care of newborns), geneticists, occupational therapists, physical therapists, speech therapists, orthopedists, pathologists (conduct and interpret biochemical tests and tissue analysis), and specialized nursing care.
If the underlying cause is known, treatment is tailored to the specific disease, followed by symptomatic and supportive therapy for the hypotonia. In very severe cases, treatment may be primarily supportive, such as mechanical assistance with basic life functions like breathing and feeding, physical therapy to prevent muscle atrophy and maintain joint mobility, and measures to try to prevent opportunistic infections such as pneumonia. Treatments to improve neurological status might involve such things as medication for a seizure disorder, medicines or supplements to stabilize a metabolic disorder, or surgery to help relieve the pressure from hydrocephalus (increased fluid in the brain).
The National Institute of Neurological Disorders and Stroke states that physical therapy can improve motor control and overall body strength in individuals with hypotonia. This is crucial to maintaining both static and dynamic postural stability, which is important since postural instability is a common problem in people with hypotonia. A physiotherapist can develop patient specific training programs to optimize postural control, in order to increase balance and safety. To protect against postural asymmetries the use of supportive and protective devices may be necessary. Physical therapists might use neuromuscular/sensory stimulation techniques such as quick stretch, resistance, joint approximation, and tapping to increase tone by facilitating or enhancing muscle contraction in patients with hypotonia. For patients who demonstrate muscle weakness in addition to hypotonia strengthening exercises that do not overload the muscles are indicated. Electrical Muscle Stimulation, also known as Neuromuscular Electrical Stimulation (NMES) can also be used to “activate hypotonic muscles, improve strength, and generate movement in paralyzed limbs while preventing disuse atrophy (p.498).” When using NMES it is important to have the patient focus on attempting to contract the muscle(s) being stimulated. Without such concentration on movement attempts, carryover to volitional movement is not feasible. NMES should ideally be combined with functional training activities to improve outcomes.
Occupational therapy can assist the patient with increasing independence with daily tasks through improvement of motor skills, strength, and functional endurance. Speech-language therapy can help with any breathing, speech, and/or swallowing difficulties the patient may be having. Therapy for infants and young children may also include sensory stimulation programs. A physical therapist may recommend an ankle/foot orthosis to help the patient compensate for weak lower leg muscles. Toddlers and children with speech difficulties may benefit greatly by using sign language.
Terminology
The term hypotonia comes from the Ancient Greek ὑπο- (hypo-), "under" and τόνος (tónos), from τείνω (teinō), "to stretch". Other terms for the condition include:
See also
Hypertonia
References
Further reading
Martin K, Inman J, Kirschner A, Deming K, Gumbel R, Voelker L (2005). "Characteristics of hypotonia in children: a consensus opinion of pediatric occupational and physical therapists". Pediatric Physical Therapy. 17 (4): 275–82. doi:10.1097/01.pep.0000186506.48500.7c. PMID 16357683. S2CID 24077081.
External links
hypotonia at NINDS
Hypotonia – Medline Plus |
Polycephaly | Polycephaly is the condition of having more than one head. The term is derived from the Greek stems poly (Greek: "πολύ") meaning "many" and kephalē (Greek: "κεφαλή") meaning "head". A polycephalic organism may be thought of as one being with a supernumerary body part, or as two or more beings with a shared body.
Two-headed animals (called bicephalic or dicephalic) and three-headed (tricephalic) animals are the only type of multi-headed creatures seen in the real world, and form by the same process as conjoined twins from monozygotic twin embryos.In humans, there are two forms of twinning that can lead to two heads being supported by a single torso. In dicephalus parapagus dipus, the two heads are side by side. In craniopagus parasiticus, the two heads are joined directly to each other, but only one head has a functional torso. Survival to adulthood is rare, but does occur in some forms of dicephalus parapagus dipus.
There are many occurrences of multi-headed animals in mythology. In heraldry and vexillology, the double-headed eagle is a common symbol, though no such animal is known to have ever existed.
Occurrences
Two-headed people and animals, though rare, have long been known to exist and documented.
Occurrence in humans
In humans, as in other animals, partial twinning can result in formation of two heads supported by a single torso. Two ways this can happen are dicephalus parapagus, where there are two heads side by side, and craniopagus parasiticus, where the heads are joined directly.
Dicephalus parapagus dipus
In dicephalus parapagus dipus, the two heads are side by side, on a torso with two legs, with varying levels of twinning of organs and structures within the torso. The shared body may have four arms altogether, or three arms, or two arms only. There are Greek-based medical terms for the variations, e.g. dibrachius means two-armed, tribrachius means three-armed. Both heads may contain a fully formed brain, or one may be anencephalic.
If carried to term, dicephalus parapagus twins are usually stillborn, or die soon after birth. Survival to adulthood does however occasionally occur in cases where the twins are born with three to four arms. Chances of survival are improved if two complete hearts are present. Separation surgery is contraindicated, except in cases where one of the twins is clearly dying.Giacomo and Giovanni Battista Tocci (born between 1875 and 1877), were dicephalus parapagus dipus twins who survived to adulthood. Each had his own pair of arms. They learned to speak several languages, but never learned to walk. Abigail and Brittany Hensel, born in 1990, are another instance of dicephalus parapagus dipus twins who grew up. They were born with two functional arms, plus a vestigial third arm, which was surgically removed. Each twin has her own complete head, heart and spine, and controls one arm and one leg. They developed good motor skills, and completed courses at school and university.
Craniopagus parasiticus
Craniopagus parasiticus is an extremely rare condition in which the two heads are joined directly together, and one twin (known as the autosite) has a functioning torso, while the other (known as the parasite) has only a vestigial torso. The parasite is supported by blood supplied from the autosite head. This threatens the life of the autosite by placing an additional burden on the autosites vital organs. Operations to separate the two heads have been performed in the hope of saving the autosite.
Occurrence in animals
Polycephalic animals often make local news headlines when found. The most commonly observed two-headed animals are turtles and snakes. Other species with known two-headed occurrences include cattle, sheep, pigs, cats, dogs, and fish. In 1894, a two-headed partridge was reported in Boston, Massachusetts. It was notable as a dicephalic animal for surviving into adulthood with two perfect heads. Scientists have published in modern journals about dissecting such animals since at least the 1930s. A 1929 paper studied the anatomy of a two-headed kitten.Polycephalic animals, due to their rarity, are a subject of novelty. "We", a two-headed albino rat snake born in captivity in 2000 with both female and male genitalia, was scheduled to be auctioned on eBay with an expected price tag of $150,000 (£87,000), though their policy of not trading in live animals prevented the sale. On October 31, 2006, the World Aquarium announced that "We" was adopted by Nutra Pharma Corporation, a biotechnology company developing treatments using modified cobra venom and cobratoxin. "We" died of natural causes at age eight in June 2007, not long after being acquired by Nutra Pharma.Two-headed farm animals sometimes travel with animal side shows to county fairs. Most notably, The Venice Beach Freakshow supposedly houses the largest collection of two-headed specimens in the world, including over 20 two-headed animals that are alive. Many museums of natural history contain preserved two-headed animals. The Museum of Lausanne in Lausanne, Switzerland, and the Ripleys Believe It Or Not! museum in Gatlinburg, Tennessee, have collections of preserved two-headed animals. A very well preserved 2-headed lamb is on display in Llanidloes museum in Wales. A live two-headed turtle named Janus can be seen at the Natural History Museum in Geneva, Switzerland.
Anatomy and fitness
In cases where multiple heads are fully developed and non-parasitic, they share control of the organs and limbs, though the specific structure of the connections varies. Animals often move in a disoriented and dizzy fashion, with the brains "arguing" with each other; some animals simply zig-zag without getting anywhere. Snake heads may attack and even attempt to swallow each other. Thus, polycephalic animals survive poorly in the wild compared to normal monocephalic animals.
Most two-headed snakes only live for a few months, though some have been reported to live a full life and even reproduced, with the offspring born normal. A two-headed black rat snake with separate throats and stomachs survived for 20 years. A two-headed albino rat snake named "We" survived in captivity for 8 years. There is some speculation that the inbreeding of snakes in captivity increases the chances of a two-headed birth.
One or two beings?
It is difficult to draw the line between what is considered "one animal with two heads" or "two animals that share a body".
Abigail and Brittany Hensel, born in 1990, were given two distinct names at birth. They identify as two people, and are recognised as two people legally and socially. On the other hand, Syafitri, born 2006 in Indonesia, were given one name by their parents because they only had one heart. In early Germany, conjoined twins that could not be separated were legally considered one person. Millie and Christine McKoy were often referred to in the singular, including by themselves, with the name "Millie-Christine", as well as plural.In Peter Mogila’s 17-century Catechism, the following instructions are given for baptism of polycephalic infants: should there be distinct heads and distinct chests, this means there are separate people each of whom must be baptised normally; if the heads and chests are not completely distinct from each other, however, one person must be baptised normally but baptism of the other(s) should be preluded by the formula "if not already baptised".With other animals, polycephaly is usually described as "one animal with two heads". One of the heads, especially in three-headed animals, may be poorly developed and malformed, and not "participate" much.
Two faces on one head
Where twinning of the head itself is only partial, it can result in the condition known as diprosopus—one head with two faces.
Earliest known occurrence
The February 22, 2007, issue of the journal Biology Letters detailed the discovery of a 122 million-year-old fossil of a two-headed Hyphalosaurus lingyuanensis, marking the earliest known occurrence of axial bifurcation.
List of notable occurrences
Humans
Dicephalic conjoined twins (dicephalus parapagus dipus)
Lycosthenes described a pair of adult female twins who had separate necks but one body. Both heads ate, drank, slept, and spoke. They had to beg from door to door, "everie one giveing (sic) to her freely". They were banished to Bavaria due to fears pregnant women who saw them would give birth to similar children; nothing else is known of them.
In 1990 Abigail and Brittany Hensel were born in Minnesota, United States.
In 2000 Ayse and Sema Tanrikulu were born in Kahramanmaraş, Turkey
In June 2000 Carmen and Lupita Andrade were born in Veracruz, Mexico. They later moved to the United States for healthcare with their parents.
In 2003 Sohna and Mohna were born in India
On June 13, 2003, twin girls named Huda and Manal Abdel Nasser Mohammed Mahmoud, were born in Asyut, Egypt
In 2006 Syafitri was born in Indonesia
In 2007 Mary Grace and Mary Divine Asis were born in the Philippines with only one heart. They died on April 30, 2008.
On August 25, 2008, a baby boy named Kiron was born with two heads in south-western Bangladesh. The baby was described by the gynaecologist present at the birth as having "one stomach and he is eating normally with his two mouths. He has one genital organ and a full set of limbs". He died on August 28, 2009.
In July 2009, dicephalic twins were born in Indonesia with two hearts but sharing all other internal organs.
In 2011 Sueli Ferreira gave birth to a child with two heads in Campina Grande, in Paraíba state, Brazil, but the baby died a few hours later because of lack of oxygen to one of the heads.
On December 19, 2011, a pair of male twins, Emanoel and Jesus Nazare, were born in Marajó Island, Brazil. The children had two heads, two legs and two arms, sharing all the body below the neck. Each child had a separate spine, but shared a heart, liver, lungs and pelvis, and both brains functioned. The boys appeared on the Channel 4 programme Bodyshock on December 19, 2012, where it was reported they had died at six months.
In March 2014 dicephalic twin girls were delivered via caesarian section at Cygnus JK Hindu Hospital in Sonipat, Haryana, in northern India. The babies reportedly have two heads, two necks and two spinal columns but share all major organs.
Craniopagus parasiticus
Craniopagus parasiticus is a condition in which a parasitic twin head with an undeveloped or underdeveloped body is attached to the head of a developed twin. Recorded cases include:
In 1783 the "Two-Headed Boy of Bengal" was born in India; the second head was joined roughly upside down on top of the developed twins head. The boy survived until 1787 and was killed by a snakebite.
In 2003 Rebeca Martinez was born in the Dominican Republic with an extra head but died 7 hours after surgery at the age of 8 weeks.
In 2004 Egyptian Naglaa Mohamed gave birth to Manar Maged who had the head and undeveloped torso of another child attached. In 2005 the second head was removed and later that year Naglaa appeared on The Oprah Winfrey Show with her surviving child. Manar died from a brain infection in 2006.
On January 20, 2021, a baby was born with two heads, at the Elias Hospital in Bucharest, Romania, but died some hours after it was born.
Non-human mammals
Cats
There have been numerous reports of two-faced cats; most die soon after birth. Reports of two-headed kittens are common, relative to other animals, because of their status as household pets.
Recent two-headed kittens include:
On May 20, 2020, a two-faced kitten named Biscuits and Gravy was born in Oregon. He died after three days.
On June 11, 2013, a two-faced kitten named Deucy was born in Amity, Oregon. She died two days later.
In November 2008, a two-faced kitten was born in Perth, Australia.
In 2006, Tiger, a two-faced kitten, was born in Grove City, Ohio.
In March 2006, Deuce, a two-faced kitten, was born in Lake City, Florida, and was euthanized shortly thereafter, having come down with pneumonia.
In June 2006, Image, a two-faced kitten, was born on and died later that year in Philadelphia, Pennsylvania.
In June 2005, Gemini, a two-faced kitten, was born in Glide, Oregon.Polycephalic cats in museums include:
The Deformed Animals Museum of Llubí, Spain, preserves a two-headed kitten.
The Museum of Lausanne in Lausanne, Switzerland, preserves a two-headed kitten (pictured).
The Laing Museum in the small town of Newburgh, Fife, Scotland, preserves the stuffed body of a two-headed kitten born in the 19th century on Mugdrum Island.
The Georgia State Capitol in Atlanta, Georgia, has a full body taxidermy of a two-faced kitten.
Ripleys Believe It or Not! Museum on Clifton Hill in Niagara Falls, Ontario (Canada) has a full-body taxidermy of a two-faced kitten.
Eton Colleges Natural History Museum has a full-body taxidermy of a two-faced kitten.
Londons Viktor Wynd Museum of Curiosities, Fine Art & Natural History has a skeleton of a two headed kitten, a two headed calf, a two headed (and 8 legged) lamb and others
Cattle
A full body taxidermy of a two-headed calf is on display at the Garth and Jerri Frehner Museum of Natural History on the Southern Utah University campus in Cedar City, Utah. "The Dancing Calves" were born by natural delivery with considerable assistance from S. T. Nelson of Cedar City, Utah on Mothers Day, May 8, 1949, to a crossbred cow owned by Willard Lund of Paragonah, Utah. The "Father Bull" is unknown but must have been an outstanding Hereford. The double calf was alive and healthy but died during birth. This calf, or calves, joined from the beginning of the neck as far as the belly, with two complete, almost perfect body frames, had but one system of vital organs. Each of the two normal heads had a food channel to one stomach and a breathing channel, or windpipe, to the one set of lungs. The two briskets, or breasts, shared on each side by these calves, contained the one set of lungs on one side and the one heart on the other side. Branching off from the one stomach and digestive system were two channels of elimination. The calf weighed approximately 85 pounds (39 kg) at birth. The over-all measurements as it stands mounted are: 42.5 inches (1,080 mm) high, 20 inches (510 mm) from tail to tail, and 18 inches (460 mm) from side to side including the front legs. The "Mother Cow" lived and was sold as a "fat cow" in July 1949. This calf was stuffed by C. J. Sanders, taxidermist, 2631 South State Street, Salt Lake City 5, Utah, who stated that it is the most unusual monstrosity he has ever worked with. Dr. A. C. Johnson, of Cedar City, Utah, stated that this was the best specimen of monstrosity in animal life that he has ever seen or heard of in his 47 years of practice as a veterinarian. "The Dancing Calves" were owned by West and Gail Seegmiller who displayed them for many years at their Desert Pearl Cafe (no longer in existence), in Cedar City, Utah. Dr. A. C. Johnson, Dr. T. Donald Bell, William H. Lund, Dr. R. G. Williams, Dr. J. S. Prestwich, Dr. A. L. Graff, S. T. Nelson, and James Hoyle, Jr. all signed as witnesses that they saw the calf in the flesh soon after birth and knew it to be authentic. The calves and original document were donated to the Garth and Jerri Frehner Museum of Natural History on the Southern Utah University campus in Cedar City, Utah, where they are now on display.
The Deformed Animals Museum of Llubí, Spain, preserves various two-headed specimens.
A head mount of a two-headed calf is on display in the Museum at the Georgia State Capitol Building in Atlanta, Georgia.
A two-faced calf is preserved at the Douglas County Museum in Waterville, Washington. The calf lived for ten days after birth.
The Ripleys Believe It or Not! museum in Gatlinburg, Tennessee, has full body taxidermy of a two-headed calf.
The Dalton Gang Museum, located in Meade, Kansas, also displays a full body taxidermy of a two-headed calf.
A two-headed calf mount can be found at the Old State House in Hartford, Connecticut
A two-headed calf was born in Frankston, Texas, on February 13, 2009. Reportedly, the owner/rancher, J. R. Newman immediately took the calf to his local veterinarian for examination/treatment. The veterinarian, Dr. James Brown, was quoted by a local reporter as saying, "Ive seen slight variations [of this condition] but nothing like this before. This is by no means normal."
A full taxidermy of a two headed calf can be found in Melton Mowbray museum, Leicestershire, UK.
A full taxidermy of a two headed calf can be found in the Museum of Marxell (in the Northern Black Forest in Germany). The calf was born by a local cow and died shortly after birth by natural causes.
A full taxidermy of a two-headed calf is on display at the Ohio Historical Society.
A taxidermy of a two-headed calf was previously on display at Hereford Museum and Art Gallery.
A full body taxidermy of a two headed calf can be seen at the Grant County Historical Museum in Canyon City, Oregon. A card next to the specimen states the heifer was born on the Bob Sprout ranch near Mt. Vernon, and that the calf had 2 hearts, lungs, and 2 spinal columns. Also at the museum are the mounted heads of two diprosopus (two-faced) calves.
A full taxidermy of a two-headed calf is on display at the Haifa Zoo, in Haifa, Israel.
A taxidermy specimen of a two headed calf can be seen at the Michigan State University museum in their Cabinet of Curiosities exhibit. The two-headed calf was born in Fowler, Michigan, in 1943 and is often paired with a dwarf calf that was born on a farm in Owendale, Michigan, in 1909.
A full taxidermy of a two-headed calf can be seen advertising ice cream for College of the Ozarks in Branson, Missouri, where it was delivered by the students.
Two full body taxidermies of two-headed calves can be seen at the Huron County Museum in Goderich, Ontario.
A full taxidermy of a two-headed calf is on display at the Miami County Museum in Peru, Indiana
A full body taxidermy of a two-headed calf is on display at the Finnish Museum of Natural History in Helsinki
A taxidermy of a two-headed calf can be found in St. Petersburg, FL in the U.S. at the St. Petersburg Museum of History.
A two-headed calf is displayed at the Bay Beach Wildlife Sanctuary in Green Bay, Wisconsin.
The Woolly Mammoth Antiques & Oddities shop in Chicagos Andersonville neighborhood displays a two-headed calf named Brussels Sprouts, originally from Belgium.
Pigs
The Deformed Animals Museum of Llubí, Spain, preserves a two-headed pig.
A preserved two headed piglet can be seen at the Museum of Witchcraft, Boscastle, Cornwall, England.
A two-headed piglet can be found at the Old State House in Hartford, Connecticut.
In 1998, Rudy, a two-headed pig, was born in Iowa.
A two-headed piglet appeared on one episode of Oddities.
A two-headed piglet was a display at the Stearns County Museum in St. Cloud, Minnesota, until the mid-1970s, but cannot be confirmed; it may have been creative taxidermy.
Goats and sheep
In 1577, a lamb with 3 heads was born in Blandy, France, and illustrated in Ambroise Pares Of Monsters and Prodigies. All 3 heads would bleat simultaneously, and it appears to have survived into adulthood.
Maines Conant Museum had an adult sheep skeleton with 2 heads.
Various two-headed sheep can be seen in the Bar Central Museum of Llubí, Spain.
In 2006, a two-headed lamb was born in Shandong, China.
The Ripleys Believe It Or Not! museum in Gatlinburg, Tennessee, has a mount.
The Llanidloes town museum in Powys, Wales, has an example of a 2-headed lamb.
The Liebig Extract of Meat Company factory (now a museum) in Fray Bentos, Uruguay, has a preserved 2-headed lamb.
Mice
A 2-headed mouse was seen at Hallæ.
Birds
An account of a 2-headed pigeon was published in France in 1734.
In 2020, a two-headed song thrush was poached in Syria.
Reptiles
Snakes
Most polycephalic snakes do not live long, but some captive individuals do.
Wyman saw a 2-headed snake, alive, in the Jardin des Plantes, Paris, in 1853.
Leidy found a 2-headed snake in a field near Philadelphia.
A two-headed black rat snake with separate throats and stomachs survived for 20 years.
There are several preserved two-headed snakes on display in the Museum at the Georgia State Capitol Building in Atlanta.
"We", the two-headed albino rat snake (see above)
A two-headed ladder snake, Elaphe scalaris, was discovered near the village of Pinoso, Spain.
A two-headed king snake lived for nearly 17 years at the Arizona State University.
A extremely rare two-headed albino Honduran milk snake named Medusa was bought by Todd Ray
Turtles
Two-headed turtles and tortoises are rare but not unknown. Recent discoveries include:
In 1999, a three-headed turtle was discovered in Tainan, Taiwan, by a villager named Lin Chi-fa.
In 2003, a two-headed angulate tortoise was discovered in South Africa, with the only other known case in the region reported in the early 1980s.
In 2004, Solomon and Sheba, a two-headed Mediterranean spur-thighed tortoise, was born in Dorchester, England.
In 2005, a two-headed olive ridley sea turtle was found in Costa Rica by the World Wildlife Fund.
In 2005, a baby turtle of unknown species was also reported in Havana, Cuba, in 2005.
In 2006, a two-headed, six-limbed soft-shell turtle in Singapore named "Double Happiness" was also featured on a local television program, and again on another program in late 2006.
In December 2021, a living two-headed Greek tortoise named Janus born in 1997 was displayed in the Museum of Natural History of Geneva.
As of 2007, there is a fully preserved common snapping turtle named Emily with two heads at the Science Museum of Minnesota.
In February 2011, a two-headed turtle was uncovered in Garner, North Carolina.
A two-headed Florida redbelly turtle named Gege lived at the Homosassa Springs Wildlife State Park, transferred to a zoo where it spent the rest of its natural life until summer of 2008.
A two-headed turtle is currently on display at the Coex Aquarium in Seoul, South Korea.
A two-headed turtle was released into the ocean with about 50 other turtles as part of a Broward County, Florida hatching turtle rescue program on July 19, 2012.
A two-headed turtle named Thelma and Louise was born at the San Antonio Zoo on June 18, 2013.
A two-headed yellow-bellied slider lives at the Herpetarium in the Greensboro Science Center in North Carolina.
A two-headed red-eared slider is on display at the Sideshow Museum in Uranus, Missouri.
Choristoderes
In 2006, the UK Royal Society announced that it had discovered a two-headed fossil of Hyphalosaurus, the first recorded time that such a reptile has been found fossilized.
Mythological occurrences
Mesopotamian mythology
Mušmaḫḫu, a seven headed serpent related to mythology of Ninurta, and Ningishzida. Sometimes related to Mušḫuššu.
Humbaba, the guardian of the Cedar Forest, where the gods lived. A description from Georg Burckhardt translation of Gilgamesh says, "he had the paws of a lion and a body covered in thorny scales; his feet had the claws of a vulture, and on his head were the horns of a wild bull; his tail and phallus each ended in a snakes head."
Greek mythology
Greek mythology contains a number of multi-headed creatures. Typhon, a vast grisly monster with many snake heads, is often described as having several offspring with Echidna, a creature with the lower body of a serpent but the upper body of a beautiful woman. Their offspring, by one source or another, account for many of the major monsters of Greek mythos, including:
Cerberus – a monstrous multi-headed dog that guards the gate to Hades.
Ladon – a sometimes hundred-headed serpent-like dragon that guards the garden of the Hesperides and is overcome by Heracles.
Chimera – sometimes depicted with the heads of a goat and a lion.
The Lernaean Hydra – an ancient nameless serpent-like chthonic water beast that possessed numerous heads.
Orthrus – a two-headed dog owned by Geryon.
Scylla – sometimes described as a six-headed sea monster.Other multi-headed creatures in Greek mythology include:
The Hecatonchires – giants with fifty heads and one hundred arms. The word "Hecatonchire" means "hundred arms". They were the sons of Gaia, and Uranus.
Hecate – Greek goddess of witches, nightmares, crossroads, and one of the Moon deities; sometimes represented with three heads.
Iranian mythology
Zahhak, an evil figure in Iranian mythology - also evident in ancient Iranian folklore as Aži Dahāka (Azh dahak) - is the most significant and long-lasting of the ažis of the Avesta, the earliest religious texts of Zoroastrianism. He is described as a monster with three mouths, six eyes, and three heads (presumably meaning three heads with one mouth and two eyes each), cunning, strong and demonic. But in other respects Aži Dahāka has human qualities, and is never a mere animal.
Hinduism
Hindu deities are often depicted with multiple arms or heads.
The fire-god Agni has two heads
Dattatreya: three
The creator-god Brahma: four
The goddess Gayatri: five
The war-god Kartikeya: sixThough usually depicted with one head, some deities like Ganesha (in Heramba form) and Shiva (Sadashiva) |
Polycephaly | have aspects where they are depicted with multiple heads; five in this case. The Vishvarupa form of Vishnu is described as having infinite heads.
Besides deities, demons (asura and rakshasa) may be depicted with multiple heads. The demon-king Ravana Ravana is depicted and described as having ten heads, although sometimes he is shown with only nine heads because he has sacrificed a head to convince Shiva. Trishira his son is depicted with three heads.
Animal races in Hindu mythology like Nāgas (serpents) may have multiple heads. The Naga Shesha is depicted with five or seven hoods, but said to have infinite hoods. Uchchaihshravas is a celestial seven-headed horse. The divine white elephant Airavata is depicted with multiple heads, trunks and tusks.
Taoism
Nezha, a god sometimes shown in "three heads and six arms" form
Occultism
Bune, a dragon with the heads of a dog, a griffin, and a man, in occultism
Ancient Mediterranean civilizations
Janus, a two- or four-faced god in Roman mythology
Nehebkau, a two-headed snake in Egyptian mythology
European culture
Various Ogres, Trolls, and Giants in European folklore and fairy tales
Double-headed eagle, a heraldic symbol
Lernaean Hydra, Greek Mythology
Eastern Europe
Balaur, a dragon with three, seven or twelve heads, in Romanian mythology
Kucedra, with three, seven or nine heads in Albanian mythology
Svantevit, four-headed god of war and divination in Slavic mythology
Triglav (meaning "three headed") is a god or complex of gods in Slavic mythology
Zmey Gorynych, a dragon in Slavic mythology
Dragons in Hungarian folklore usually have three or seven heads
Northern Europe
Þrúðgelmir, a six-headed giant in Norse mythology
Japan
Yamata no Orochi, an eight-headed snake in Japanese mythology
Korea
Jihaguk Daejeok, a nine-headed giant in Korean mythology
Judaism
The Talmud (Brachot 61a) says that originally Adam was created as a single body with two faces (which were then separated into two bodies - male (Adam) & female (Eve)).The Zohar (introduction 1:9B / p. 9B) speaks of descendants of Cain with 2 heads.The Talmud (Menachot 37a) records an incident in which Phlimo asked Judah the Prince, which head a two headed person should put on Tefillin. Judah was initially dismissive, but then another man came in saying that his wife had just given birth to a two headed baby, and asked a (different) halachic question.
Heraldry
Double-headed eagle
Triple-headed eagle
See also
Amphisbaena
Cephalic disorder
Chimera
Conjoined twins
The Corleck Head
Diprosopus
Janus
Abby and Brittany Hensel
Supernumerary body part
Three hares
Vladimir Demikhov
References
== External links == |
Lipid pneumonia | Lipoid pneumonia is a specific form of lung inflammation (pneumonia) that develops when lipids enter the bronchial tree. The disorder is sometimes called cholesterol pneumonia in cases where that lipid is a factor.
Signs and symptoms
The pneumonia presents as a foreign body reaction causing cough, dyspnea, and often fever. Hemoptysis has also been reported.
Causes
Sources of such lipids could be either exogenous or endogenous.Exogenous: from outside the body. For example, inhaled nose drops with an oil base, or accidental inhalation of cosmetic oil. Amiodarone is an anti-arrythmic known to cause this condition. Oil pulling has also been shown to be a cause. Fire breathers pneumonia from the inhalation of hydrocarbon fuel is a specific variant. At risk populations include the elderly, developmentally delayed or persons with gastroesophageal reflux. Switching to water-soluble alternatives may be helpful in some situations.Endogenous: from the body itself, for example, when an airway is obstructed, it is often the case that distal to the obstruction, lipid-laden macrophages and giant cells fill the lumen of the disconnected airspace.
Appearance
The gross appearance of a lipid pneumonia is that in which there is an ill-defined, pale yellow area on the lung. This yellow appearance explains the colloquial term "golden" pneumonia.
At the microscopic scale foamy macrophages and giant cells are seen in the airways, and the inflammatory response is visible in the parenchyma.
Treatment
Treatment is with corticosteroids and possibly intravenous immunoglobulins.
Prognosis
Endogenous lipoid pneumonia and non-specific interstitial pneumonitis has been seen prior to the development of pulmonary alveolar proteinosis in a child.
Epidemiology
Lipid pneumonia has been known to occur in underwater divers after breathing poorly filtered air supplied by a surface compressor lubricated by mineral oil.
History
Laughlen first described lipid pneumonia in 1925 with infants that inhaled oil droplets. It is a condition that has been seen as an occupational risk for commercial diving operations but documented cases are rare.
References
Further reading
Spickard, Anderson; Hirschmann, JV (28 March 1994). "Exogenous Lipoid Pneumonia". Archives of Internal Medicine. 154 (6): 686–92. doi:10.1001/archinte.1994.00420060122013. PMID 8129503.
Betancourt, SL; Martinez-Jimenez, S; Rossi, SE; Truong, MT; Carrillo, J; Erasmus, JJ (January 2010). "Lipoid pneumonia: spectrum of clinical and radiologic manifestations". AJR. American Journal of Roentgenology. 194 (1): 103–9. doi:10.2214/ajr.09.3040. PMID 20028911.
External links
Gross pathology specimen from the University of Utah |
Pulmonary alveolar proteinosis | Pulmonary alveolar proteinosis (PAP) is a rare lung disorder characterized by an abnormal accumulation of surfactant-derived lipoprotein compounds within the alveoli of the lung. The accumulated substances interfere with the normal gas exchange and expansion of the lungs, ultimately leading to difficulty breathing and a predisposition to developing lung infections. The causes of PAP may be grouped into primary (autoimmune PAP, hereditary PAP), secondary (multiple diseases), and congenital (multiple diseases, usually genetic) causes, although the most common cause is a primary autoimmune condition in an individual.
Signs and symptoms
The signs and symptoms of PAP include shortness of breath, cough, low grade fever, and weight loss. Additionally, the clinical course of PAP is unpredictable. Spontaneous remission is recognized, and some patients have stable symptoms. Death may occur due to the progression of PAP or of any underlying associated disease. Individuals with PAP are more vulnerable to lung infections such as nocardiosis, Mycobacterium avium-intracellulare infection, or fungal infections.
Causes
The abnormal accumulation of lipoproteinaceous compounds in PAP is due to impaired surfactant regulation and clearance. This is usually related to impaired alveolar macrophage function. In adults, the most common cause of PAP is an autoimmunity to granulocyte-macrophage colony stimulating factor (GM-CSF), a critical factor in development of alveolar macrophages. Decreased bioavailability of GM-CSF results in poor alveolar macrophages development and function, which results in accumulation of surfactant and related products.Secondary causes of PAP are those in which the accumulation of lipoproteinaceous compounds is secondary to another disease process. This has been recognized in the settings of certain cancers (such as myeloid leukemia), lung infections, or environmental exposure to dusts or chemicals, such as nickel.Although the cause of PAP was not originally understood, a major breakthrough in the understanding of the cause of the disease came by the chance observation that mice bred for experimental study to lack a hematologic growth factor known as granulocyte-macrophage colony stimulating factor (GM-CSF) developed a pulmonary syndrome of abnormal surfactant accumulation resembling human PAP.The implications of this finding are still being explored, but significant progress was reported in February 2007. Researchers in that report discussed the presence of anti-GM-CSF autoantibodies in patients with PAP, and duplicated that syndrome with the infusion of these autoantibodies into mice.Familial or sporadic inactivating mutations in one of the two parental GATA2 genes produces an autosomal dominant disorder termed GATA2 deficiency. The GATA2 gene produces the GATA2 transcription factor which is critical for the embryonic development, maintenance, and functionality of blood-forming, lympathic-forming, and other tissue-forming cells. Individuals with a single GATA2 inactivating mutation present with a wide range of disorders including pulmonary alveolar proteinosis. GATA2 mutation-based pulmonary alveolar proteinosis is associated with normal levels of GM-CSF and commonly improves or is avoided in afflicted individuals who successfully receive a hematopoietic stem cell transplantation.
Genetics
Hereditary pulmonary alveolar proteinosis is a recessive genetic condition in which individuals are born with genetic mutations that deteriorate the function of the CSF2 receptor alpha on alveolar macrophages. Consequently, a messenger molecule known as granulocyte/macrophage-colony stimulating factor (GM-CSF) is unable to stimulate alveolar macrophages to clear surfactant, leading to difficulty with breathing. The gene for the CSF2 receptor alpha is located in the 5q31 region of chromosome 5, and the gene product can also be referred to as granulocyte macrophage colony-stimulating factor receptor.
Diagnosis
The diagnosis of PAP is made using a combination of a persons symptoms, chest imaging, and microscopic evaluation of lung washing/tissue. Additional testing for serum anti-GM-CSF antibodies are helpful for confirmation.Although both the symptoms and imaging findings are stereotypical and well-described, they are non-specific and indistinguishable from many other conditions. For example, chest x-ray may show alveolar opacities, and a CT may show a crazy paving lung pattern, both of which are seen more commonly in numerous other conditions. Thus, the diagnosis primarily depends on the pathology findings.Lung washings or tissue for histopathologic analysis are most commonly obtained using bronchoalveolar lavage and/or lung biopsy. Characteristic biopsy findings show filling of the alveoli (and sometimes terminal bronchioles) with an amorphous eosinophilic material, which stains strongly positive on PAS stain and the PAS diastase stain. The surrounding alveoli and pulmonary interstitium remain relatively normal. Electron microscopy of the sample, although not typically performed due to impracticality, shows lamellated bodies representing surfactant. An alternative diagnosis with similar histomorphologic findings is Pneumocystis jirovicii pneumonia.Lung washings characteristically yield a fluid which is "milky"composition. Under the microscope, samples show 20-50 micrometer PAS-positive globules on a background of finely granular or amorphous PAS-positive material. There is typically a low numbers of macrophages and inflammatory cells (although this is variable).
Treatment
The standard treatment for PAP is whole-lung lavage and supportive care. Whole lung lavage is a procedure performed under general anesthesia, in which one lung is pumped with oxygen (ventilated lung), and the other lung (non-ventilated lung) is filled with a warm saline solution (up to 20 L) and drained, removing any proteinaceous effluent along with it. This is generally effective at improving PAP symptoms, often for a prolonged period of time. Other treatments still being studied include subcutaneous and inhaled GM-CSF, and rituximab, an intravenous infusion that works to stop the production of the autoantibodies responsible for autoimmune PAP. Lung transplantation has been performed in individuals with the various forms of PAP; however, this is often only used when all other treatment options have failed and significant lung damage has developed due to the risks, complications, or recurrence of PAP following transplantation.
Epidemiology
The disease is more common in males and in tobacco smokers.In a recent epidemiologic study from Japan, Autoimmune PAP has an incidence and prevalence higher than previously reported and is not strongly linked to smoking, occupational exposure, or other illnesses. Endogenous lipoid pneumonia and non-specific interstitial pneumonitis has been seen prior to the development of PAP in a child.
History
PAP was first described in 1958 by the physicians Samuel Rosen, Benjamin Castleman, and Averill Liebow. In their case series published in the New England Journal of Medicine on June 7 of that year, they described 27 patients with pathologic evidence of periodic acid Schiff positive material filling the alveoli. This lipid rich material was subsequently recognized to be surfactant.The reported treatment of PAP using therapeutic bronchoalveolar lavage was in 1960 by Dr. Jose Ramirez-Rivera at the Veterans Administration Hospital in Baltimore, who described repeated "segmental flooding" as a means of physically removing the accumulated alveolar material.
Research
PAP is one of the rare lung diseases currently being studied by the Rare Lung Diseases Consortium. The consortium is part of the Rare Diseases Clinical Research Network, an initiative of the Office of Rare Diseases Research, of the National Center for Advancing Translational Sciences, and dedicated to developing new diagnostics and therapeutics for patients with rare lung diseases, through collaboration between the National Institutes of Health, patient organizations and clinical investigators.
References
External links
ORPHANET/ The portal for rare diseases and orphan drugs |
Alexis Littré | Alexis Littre (17 July 1654 – 3 February 1726) was a French physician and anatomist born in Cordes (currently Cordes-Tolosannes in the department of Tarn-et-Garonne).
Biography
Littre studied medicine in Montpellier and Paris, receiving his doctorate in 1691. In 1699 he became a member of the Académie des Sciences.
In Paris, he taught anatomy and was the author of numerous medical publications. He was the first to give a description of a hernial protrusion of an intestinal diverticulum. This condition is now referred to as "Littres hernia".He also described the mucous urethral glands of the male urethra. These structures were to become known as "Littres glands", and their inflammation is sometimes called "littreitis".In his 1710 treatise Diverses observations anatomiques, Littre was the first to suggest the possibility of performing a lumbar colostomy for an obstruction of the colon.Jean Louis Petit was one of his students. So was Jacques-Bénigne Winslow in 1707. He died in Paris.
References
Alexis de Littre @ Who Named It
Notes
External links
Online articles by Littré 10 articles (2012-05-15) on the site of the Académie des sciences.
Cotlar, Alvin M. (January 2002). "Historical landmarks in operations on the colon—surgeons courageous". Current Surgery. Elsevier. 59 (1): 91–95. doi:10.1016/s0149-7944(01)00606-7. ISSN 0149-7944. PMID 16093113.
Bernard Le Bovier de Fontenelle, Éloge de Monsieur Littré, p. 129, at Google Books, 1754, p. 129 (Eulogy) |
Shoulder presentation | A shoulder presentation is a malpresentation at childbirth where the baby is in a transverse lie (its vertebral column is perpendicular to that of the mother), thus the leading part (the part that first enters the birth canal) is an arm, a shoulder, or the trunk. While a baby can be delivered vaginally when either the head or the feet/buttocks are the leading part, it usually cannot be expected to be delivered successfully with a shoulder presentation unless a cesarean section (C/S) is performed.
Frequency and causes
Shoulder presentations are uncommon (about 0.5% of births) since, usually, toward the end of gestation, either the head or the buttocks start to enter the upper part of the pelvis, anchoring the fetus in a longitudinal lie. It is not known in all cases of shoulder presentation why the longitudinal lie is not reached, but possible causes include bony abnormalities of the pelvis, uterine abnormalities such as malformations or tumors (fibroids), or other tumors in the pelvis or abdomen. Other factors are a lax abdominal musculature, uterine overdistension (i.e., polyhydramnios), multiple gestation, placenta previa, a small fetus, or a fetus with some abnormality. Further, if the amniotic fluid sac ruptures, the shoulder or arm may become wedged as a shoulder presentation.
Diagnosis
Inspection of the abdomen may already give a clue as it is wide from side to side. Usually performing the Leopolds maneuvers will demonstrate the transverse lie of the fetus. Ultrasound examination delivers the diagnosis and may indicate possible causes such as multiple gestation or a tumor. On vaginal examination, the absence of a head or feet/breech is apparent.
Shoulder presentations are classified into four types, based on the location of the scapula:
Left scapula-anterior (LSA)
Right scapula-anterior (RSA)
Left scapula-posterior (LSP)
Right scapula-posterior (RSP)
Management
While a transverse lie prior to labor can be manually versed to a longitudinal lie, once the uterus starts contracting the uterus normally will not allow any version procedure. A shoulder presentation is an indication for a caesarean section. Generally, as it is diagnosed early, the baby is not damaged by the time of delivery. With the rupture of the membranes, there is an increased risk of a cord prolapse as the shoulder may not completely block the birth canal. Thus the caesarean section is ideally performed before the membranes break.
Delivery of the second twin
The delivery of the second twin in a transverse lie with a shoulder presentation represents a special situation that may be amenable to a vaginal delivery. As the first twin has just been delivered and the cervix is fully dilated the obstetrician may perform an internal version, that is inserting one hand into the uterus, find the baby’s feet, and then bring the baby into a breech position and deliver the baby as such.
Impaction
During labor the shoulder will be wedged into the pelvis and the head lie in one iliac fossa, the breech in the other. With further uterine contractions the baby suffocates. The uterus continues to try to expel the impacted fetus and as its retraction ring rises, the musculature in the lower segments thins out leading eventually to a uterine rupture and the death of the mother. Impacted shoulder presentations contribute to maternal mortality. Obviously a cesarean section should be performed before the baby has died, but even when the baby has died or impaction has occurred, C/S is the method of choice of delivery, as alternative methods of delivery are potentially too traumatic for the mother. If the baby is preterm or macerated and very small a spontaneous delivery has been observed.
History
Prior to the arrival of C/S the fetus usually died during protracted labor and the mothers life was at risk as well due to infection, uterine rupture and bleeding. On occasion, if the baby was macerated and small, it collapsed sufficiently to be delivered. The shoulder presentation was a feared obstetrical complication.
In 1690 Justine Siegemundin, a German midwife, published Die Kgl. Preußische und Chur-Brandenburgische Hof-Wehemutter. This treatise for midwives demonstrated abnormal presentations at birth and their management. She was the first to describe a two-handed method of performing an internal rotation of the baby to extract it as a breech (a variation of which is performed today on the second twin, see above) using a sling. The procedure was useful provided the fetus was not impacted. Once the uterus had contracted around the baby tightly, destructive interventions were used to save the life of the mother.
See also
Presentation (obstetrics)
References
External links
Institute and Museum of History of Science, see models 36-42 |
Post-concussion syndrome | Post-concussion syndrome (PCS) is a set of symptoms that may continue for weeks, months, or a year or more after a concussion – a mild traumatic brain injury (TBI). About 15–30% of people with concussion develop persistent or prolonged symptoms associated with the injury. Prolonged concussion is defined as having concussion symptoms for over four weeks following the first accident in youth and for weeks or months in adults.A diagnosis may be made when symptoms resulting from concussion last for more than three months after the injury. Loss of consciousness is not required for a diagnosis of concussion or post-concussion syndrome.Though there is no specific treatment for PCS, symptoms can be improved with medications and physical and behavioral therapy. Education about symptoms and details about expectation of recovery are important. The majority of PCS cases resolve after a period of time.
Signs and symptoms
In the past, the term PCS was also used to refer to immediate physical symptoms or post-concussive symptoms following a minor TBI or concussion. The severity of these symptoms typically decreases rapidly. In addition, the nature of the symptoms may change over time: acute symptoms are most commonly of a physical nature, while persisting symptoms tend to be predominantly psychological. Symptoms such as noise sensitivity, problems with concentration and memory, irritability, depression, and anxiety may be called late symptoms because they generally do not occur immediately after the injury, but rather in the days or weeks after the injury. Nausea and drowsiness commonly occur acutely following concussion. Headache and dizziness occur immediately after the injury, but also can be long lasting.The condition is associated with a wide range of non-specific symptoms: physical, such as headache; cognitive, such as difficulty concentrating; and emotional and behavioral, such as irritability. Many of the symptoms associated with PCS are common or may be exacerbated by other disorders, so there is considerable risk of misdiagnosis. Headaches that occur after a concussion may feel like migraine headaches or tension-type headaches. Most headaches are tension-type headaches, which may be associated with a neck injury that occurred at the same time of the head injury.
Physical
A common condition associated with PCS is headache. While most people have headaches of the same type they experienced before the injury, people diagnosed with PCS often report more frequent or longer-lasting headaches. Between 30% and 90% of people treated for PCS report having more frequent headaches and between 8% and 32% still report them a year after the injury.Dizziness is another common symptom reported in about half of people diagnosed with PCS and is still present in up to a quarter of them a year after the injury. Older people are at especially high risk for dizziness, which can contribute to subsequent injuries and higher rates of mortality due to falls.About 10% of people with PCS develop sensitivity to light or noise, about 5% experience a decreased sense of taste or smell, and about 14% report blurred vision. People may also have double vision or ringing in the ears, also called tinnitus. PCS may cause insomnia, fatigue, or other problems with sleep.
Psychological and behavioral
Psychological conditions, which are present in about half of people with PCS, may include irritability, anxiety, depression, and a change in personality. Other emotional and behavioral symptoms include restlessness, aggression, and mood swings. Some common symptoms, such as apathy, insomnia, irritability, or lack of motivation, may result from other co-occurring conditions, such as depression.
Higher mental functions
Common symptoms associated with a diagnosis of PCS are related to cognition, attention, and memory, especially short-term memory, which can also worsen other problems such as forgetting appointments or difficulties at work. In one study, one in four people diagnosed with PCS continued to report memory problems a year after the injury, but most experts agree that cognitive symptoms clear within six months to a year after injury in the vast majority of individuals.
Causes
The question of the cause or causes of PCS has been heavily debated for many years and remain controversial. It is not known to exactly what degree the symptoms are due to physiological changes or to other factors, such as pre-existing psychiatric disorders or factors related to secondary gain or disability compensation. The subjectivity of the complaints complicates assessment and makes it difficult to determine whether symptoms are being exaggerated or feigned.PCS may also be exacerbated by psychosocial factors, chronic pain, or an interaction of some or all of these. The majority of experts believe that PCS results from a mix of factors, including preexisting psychological factors and those directly relating to the physical injury.It is not known what causes PCS to occur and persist, or why some people who have a mild traumatic brain injury later develop PCS while others do not. The nature of the syndrome and the diagnosis itself have been the subject of intense debate since the 19th century. However, certain risk factors have been identified; for example, preexisting medical or psychological conditions, expectations of disability, being female, and older age all increase the chances that someone will have PCS. Physiological and psychological factors present before, during, and after the injury are all thought to be involved in the development of PCS.Some experts believe post-concussion symptoms are caused by structural damage to the brain or disruption of neurotransmitter systems, resulting from the impact that caused the concussion. Others believe that post-concussion symptoms are related to common psychological factors. Most common symptoms like headache, dizziness, and sleep problems are similar to those often experienced by individuals diagnosed with depression, anxiety, or post traumatic stress disorder. In many cases, both physiological effects of brain trauma and emotional reactions to these events play a role in the development of symptoms.
Physiological
Conventional neuroimaging studies of the brain following a concussion are typically normal. However, studies have found some subtle physiological changes associated with PCS using more novel imaging modalities. Studies using positron emission tomography have linked PCS to a reduction in glucose use by the brain. Changes in cerebral blood flow have also been observed as long as three years after a concussion in studies using single photon emission computed tomography (SPECT). At least one study with functional magnetic resonance imaging (fMRI) has shown differences in brain function during tasks involving memory after mild traumatic brain injury (mTBI) although they were not examining PCS specifically.Not all people with PCS have abnormalities on imaging, however, and abnormalities found in studies such as fMRI, PET, and SPECT could result from other comorbid conditions such as depression, chronic pain, or posttraumatic stress disorder (PTSD).
Proponents of the view that PCS has a physiological basis point to findings that children demonstrate deficits on standardized tests of cognitive function following a mild TBI. A few studies have shown that people with PCS score lower than controls on neuropsychological tests that measure attention, verbal learning, reasoning, and information processing, but issues related to effort and secondary gain can not be ruled out as contributing to these differences. Recovery as measured by scores on cognitive tests frequently do not correlate with resolution of symptoms; individuals diagnosed with PCS may still report subjective symptoms after their performance on tests of cognitive functioning have returned to normal. Another study found that although children with PCS had poorer scores on tests of cognitive functioning after the injury, they also had poorer behavioral adjustment before the injury than children with no persistent symptoms; these findings support the idea that PCS may result from a combination of factors such as brain dysfunction resulting from head injury and preexisting psychological or social problems. Different symptoms may be predicted by different factors; for example, one study found that cognitive and physical symptoms were not predicted by the manner in which parents and family members coped with the injury and adjusted to its effects, but psychological and behavioral symptoms were.Brain inflammation is suggested to play a role in post-concussive syndrome.
Psychological
It has been argued that psychological factors play an important role in the presence of post-concussion symptoms. The development of PCS may be due to a combination of factors such as adjustment to effects of the injury, preexisting vulnerabilities, and brain dysfunction. Setbacks related to the injury, for example problems at work or with physical or social functioning, may act as stressors that interact with preexisting factors such as personality and mental conditions to cause and perpetuate PCS. In one study, levels of daily stress were found to be correlated to PCS symptoms in both concussed subjects and controls, but in another, stress was not significantly related to symptoms.Iatrogenic effects (those caused by the medical intervention) may also occur when individuals are provided with misleading or incorrect information related to recovery of symptoms. This information may cause people to focus and dwell on the idea that their brains are permanently damaged. It appears that even the expectation of symptoms may contribute to the development of PCS by causing individuals with mTBI to focus on symptoms and therefore perceive them to be more intense, to attribute symptoms that occur for other reasons to the injury, and to underestimate the rate of symptoms before the injury.
Diagnosis
The International Statistical Classification of Diseases and Related Health Problems (ICD-10) and the American Psychiatric Associations Diagnostic and Statistical Manual of Mental Disorders have set out criteria for post-concussion syndrome (PCS) and post-concussional disorder (PCD), respectively.
The ICD-10 established a set of diagnostic criteria for PCS in 1992. In order to meet these criteria, a patient has had a head injury "usually sufficiently severe to result in loss of consciousness" and then develop at least three of the eight symptoms marked with a check mark in the table at right under "ICD-10" within four weeks.
About 38% of people who have a head injury with symptoms of concussion and no radiological evidence of brain lesions meet these criteria. In addition to these symptoms, people that meet the ICD-10 criteria for PCS may fear that they will have permanent brain damage, which may worsen the original symptoms. Preoccupation with the injury may be accompanied by the assumption of a "sick role" and hypochondriasis. The criteria focus on subjective symptoms and mention that neuropsychological evidence of significant impairment is not present. With their focus on psychological factors, the ICD-10 criteria support the idea that the cause of PCS is functional. Like the ICD-10, the ICD-9-CM defines PCS in terms of subjective symptoms and discusses the greater frequency of PCS in people with histories of mental disorders or a financial incentive for a diagnosis.The DSM-IV lists criteria for diagnosis of PCD in people who have had a head trauma with persistent post-traumatic amnesia, loss of consciousness, or post-traumatic seizures. In addition, for a diagnosis of PCD, patients must have neuropsychological impairment as well as at least three of the symptoms marked with a check mark in the table at right under "DSM-IV". These symptoms must be present for three months after the injury and must have been absent or less severe before the injury. In addition, the patient must experience social problems as a result, and must not meet criteria for another disorder that explains the symptoms better.Neuropsychological tests exist to measure deficits in cognitive functioning that can result from PCS. The Stroop Color Test and the 2&7 Processing Speed Test (which both detect deficits in speed of mental processing) can predict the development of cognitive problems from PCS. A test called the Rivermead Postconcussion Symptoms Questionnaire, a set of questions that measure the severity of 16 different post-concussion symptoms, can be self-administered or administered by an interviewer. Other tests that can predict the development of PCS include the Hopkins Verbal Learning A test (HVLA) and the Digit Span Forward examination. The HVLA tests verbal learning and memory by presenting a series of words and assigning points based on the number recalled, and digit span measures attention efficiency by asking the examinee to repeat back digits spoken by the tester in the same order as they are presented. In addition, neuropsychological tests may be performed to detect malingering (exaggerating or making up symptoms) .
Differential diagnosis
PCS, which shares symptoms with a variety of other conditions, is highly likely to be misdiagnosed in people with these conditions. Cognitive and affective symptoms that occur following a traumatic injury may be attributed to mTBI, but in fact be due to another factor such as posttraumatic stress disorder, which is easily misdiagnosed as PCS and vice versa. Affective disorders such as depression have some symptoms that can mimic those of PCS and lead to a wrongful diagnosis of the latter; these include problems with concentration, emotional lability, anxiety, and sleep problems. Depression, which is highly common in persistent PCS, can worsen other PCS symptoms, such as headaches and problems with concentration, memory, and sleep. PCS also shares symptoms with chronic fatigue syndrome, fibromyalgia, and exposure to certain toxins. Traumatic brain injury may cause damage to the hypothalamus or the pituitary gland, and deficiencies of pituitary hormones (hypopituitarism) can cause similar symptoms to post-concussion syndrome; in these cases, symptoms can be treated by replacing any hormones that are deficient.
Treatment
Management of post-concussion syndrome typically involves treatments addressing specific symptoms; for example, people can take over the counter pain relievers for headaches and medicine to relieve depression or insomnia. Participation in low-risk physical activities that raise the heart rate and mental activities is advised, at a level that does not worsen symptoms. Prolonged rest is not suggested. Physical and behavioral therapy may also be prescribed for problems such as loss of balance and difficulties with attention, respectively.
Medication
Though no pharmacological treatments exist for PCS, doctors may prescribe medications used for symptoms that also occur in other conditions; for example, antidepressants are used for the depression that frequently follows mTBI. Side effects of medications may affect people with mTBI more severely than they do others, and thus it is recommended that medications be avoided if possible; there may be a benefit to avoiding narcotic medications. In addition, some pain medications prescribed for headaches can cause rebound headaches when they are discontinued.
Psychotherapy
Psychological treatment, to which about 40% of PCS patients are referred for consultation, has been shown to reduce problems. Ongoing disabilities may be treated with therapy to improve function at work, or in social or other contexts. Therapy aims to aid in the gradual return to work and other preinjury activities, as symptoms permit. A protocol for PCS treatment has been designed based on the principles behind Cognitive behavioral therapy (CBT), a psychotherapy aimed at influencing disturbed emotions by improving thoughts and behaviors. CBT may help prevent persistence of iatrogenic symptoms – those that occur because health care providers create the expectation that they will. A risk exists that the power of suggestion may worsen symptoms and cause long-term disabilities; therefore, when counseling is indicated, the therapist must take a psychological origin of symptoms into account and not assume that all symptoms are a direct result of neurological damage from the injury.In situations such as motor vehicle accidents or following a violent attack, the post-concussion syndrome may be accompanied by posttraumatic stress disorder, which is important to recognize and treat in its own right. People with PTSD, depression, and anxiety can be treated with medication and psychotherapy.
Upper cervical care
Post-concussion syndrome can sometimes be the result of a misalignment in the upper cervical spine (neck) specifically the C1 (Atlas) or C2 (Axis) which surround the brain stem. Some individuals have found relief through upper cervical care. An upper cervical chiropractor is a specialist who uses x-rays to identify misalignments in the upper cervical spine then gently repositions the top two bones of the neck. There are currently approximately seven different chiropractic methods of repositioning the C1 bone, however the three most popular techniques are NUCCA (adjustment done by hand), Blair Technique (adjustment done by hand), and Atlas Orthogonal (adjustment done by a machine).
Education
Education about symptoms and their usual time course is a part of psychological therapy, and is most effective when provided soon after the injury. Since stress exacerbates post-concussion symptoms, and vice versa, an important part of treatment is reassurance that PCS symptoms are normal, and education about how to deal with impairments. One study found that PCS patients who were coached to return to activities gradually, told what symptoms to expect, and trained how to manage them had a reduction in symptoms compared to a control group of uninjured people. Early education has been found to reduce symptoms in children as well.
Neurotherapy
Neurotherapy is an operant conditioning test where patients are given conditional audio/visual rewards after producing particular types of brainwave activity. Recent neurotherapy improvements in quantitative electroencephalography can identify the specific brainwave patterns that need to be corrected. Studies have shown that neurotherapy is effective in the treatment of post-concussion syndrome and other disorders with similar symptoms.
Prognosis
The prognosis for PCS is generally considered positive, with total resolution of symptoms in many, but not all, cases. For 50% of people, post-concussion symptoms go away within a few days to several weeks after the original injury occurs. In others, symptoms may remain for three to six months, but evidence indicates that many cases are completely resolved within six months. The majority of symptoms are largely gone in about half of people with concussion one month after the injury, and about two thirds of people with minor head trauma are nearly symptom-free within three months. Persistent, often severe headaches are the longest lingering symptom in most cases and are the most likely symptom to never fully resolve. It is frequently stated in the literature and considered to be common knowledge that 15–30% of people with PCS have not recovered by a year after the injury, but this estimate is imprecise because it is based on studies of people admitted to a hospital, the methodologies of which have been criticized. In approximately 15% of people, symptoms may persist for years or be permanent. If symptoms are not resolved by one year, they are likely to be permanent, though improvements may occur after even two or three years, or may suddenly occur after a long time without much improvement.
Older people and those who have previously had another head injury are likely to take longer to recover.The way in which children cope with the injury after it occurs may have more of an impact than factors that existed prior to the injury. Childrens mechanisms for dealing with their injuries may have an effect on the duration of symptoms, and parents who do not deal effectively with anxiety about childrens post-injury functioning may be less able to help their children recover.If another blow to the head occurs after a concussion but before its symptoms have gone away, there is a slight risk of developing the serious second-impact syndrome (SIS). In SIS, the brain rapidly swells, greatly increasing intracranial pressure. People who have repeated mild head injuries over a prolonged period, such as boxers and Gridiron football players, are at risk for chronic traumatic encephalopathy (or the related variant dementia pugilistica), a severe, chronic disorder involving a decline in mental and physical abilities.
Epidemiology
It is not known exactly how common PCS is. Estimates of the prevalence at three months post-injury are between 24 and 84%, a variation possibly caused by different populations or study methodologies. The estimated incidence of PPCS (persistent postconcussive syndrome) is around 10% of mTBI cases. Since PCS by definition only exists in people who have had a head injury, demographics and risk factors are similar to those for head injury; for example, young adults are at higher risk than others for receiving head injury, and, consequently, of developing PCS.The existence of PCS in children is controversial. It is possible that childrens brains have enough plasticity that they are not affected by long-term consequences of concussion (though such consequences are known to result from moderate and severe head trauma). On the other hand, childrens brains may be more vulnerable to the injury, since they are still developing and have fewer skills that can compensate for deficits. Clinical research has found higher rates of post-concussion symptoms in children with TBI than in those with injuries to other parts of the body, and that the symptoms are more common in anxious children. Symptoms in children are similar to those in adults, but children exhibit fewer of them. Evidence from clinical studies found that high school-aged athletes had slower recoveries from concussion as measured by neuropsychological tests than college-aged ones and adults. PCS is rare in young children.
Risk factors
A wide range of factors have been identified as being predictive of PCS, including low socioeconomic status, previous mTBI, a serious associated injury, headaches, an ongoing court case, age and female sex. Being older than 40 and being female have also been identified as being predictive of a diagnosis of PCS, and women tend to report more severe symptoms. In addition, the development of PCS can be predicted by having a history of alcohol use disorder, low cognitive abilities before the injury, a personality disorder, or a medical illness not related to the injury. PCS is also more prevalent in people with a history of psychiatric conditions such as clinical depression or anxiety before the injury.Mild brain injury-related factors that increase the risk for persisting post-concussion symptoms include an injury associated with acute headache, dizziness, or nausea; an acute Glasgow Coma Score of 13 or 14; and having another head injury before recovering from the first. The risk for developing PCS also appears to be increased in people who have traumatic memories of the injury or expect to be disabled by the injury.
History
The symptoms that occur after a concussion have been described in various reports and writings for hundreds of years. The idea that this set of symptoms forms a distinct entity began to attain greater recognition in the latter part of the 19th century. John Erichsen, a surgeon from London, played an important role in developing the study of PCS. The controversy surrounding the cause of PCS began in 1866 when Erichsen published a paper about persisting symptoms after sustaining mild head trauma. He suggested that the condition was due to "molecular disarrangement" to the spine. The condition was originally called "railroad spine" because most of the injuries studied had happened to railroad workers. While some of his contemporaries agreed that the syndrome had an organic basis, others attributed the symptoms to psychological factors or to outright feigning. In 1879, the idea that a physical problem was responsible for the symptoms was challenged by Rigler, who suggested that the cause of the persisting symptoms was actually "compensation neurosis": the railroads practice of compensating workers who had been injured was bringing about the complaints. Later, the idea that hysteria was responsible for the symptoms after a mild head injury was suggested by Charcot. Controversy about the syndrome continued through the 20th century. During World War I many soldiers with puzzling symptoms after being close to a detonation but without any evidence of a head wound. The illness was called shell shock, and a psychological explanation was eventually favoured. By 1934 the current concept of PCS had replaced ideas of hysteria as the cause of post-concussion symptoms. British authorities banned the term shell shock during World War II to avoid an epidemic of cases, and the term posttrauma concussion state was coined in 1939 to describe "disturbance of consciousness with no immediate or obvious pathologic change in the brain". The term postconcussion syndrome was in use by 1941.In 1961, H. Miller first used the term "accident neurosis" to refer to the syndrome which is now called PCS and asserted that the condition only occurs in situations where people stand to be compensated for the injury. The real causes of the condition remain unclear.
Controversy
Though no universally accepted definition of postconcussive syndrome exists, most of the literature defines the syndrome as the development of at least three of the following symptoms: headache, dizziness, fatigue, irritability, impaired memory and concentration, insomnia, and lowered tolerance for noise and light. One complication in diagnosis is that symptoms of PCS also occur in people who have no history of head injury, but who have other medical and psychological complaints. In one study 64% of people with TBI, 11% of those with brain injuries, and 7% of those with other injuries met the DSM-IV criteria for post-concussion syndrome. Many of these individuals with PCS were misdiagnosed as having other unrelated conditions due to commonality of symptoms. (see diagnosis above).Headache is one of the criteria for PCS, but it is notably undetermined where the headache comes from. Couch, Lipton, Stewart and Scher (2007) argue that headaches, one of the hallmarks of PCS, occur in a variety of injuries to the head and neck. Further, Lew et al. (2006) reviewed ample studies comparing headaches to post-traumatic headaches and found that there is wide heterogeneity in the source and causes of headaches. They point out that the International Headache Society lists 14 known causes of headaches, as well. Furthermore, the headaches may be better accounted for by mechanical causes, such as whiplash, which is often mistaken for PCS. An additional possibility is that posttraumatic stress disorder can account for some cases diagnosed as PCS, but for emotional regulation as well.Depression, posttraumatic stress disorder, and chronic pain share symptoms resembling those of PCS. One study found that while people with chronic pain without TBI do report many symptoms similar to those of post-concussion syndrome, they report fewer symptoms related to memory, slowed thinking, and sensitivity to noise and light than people with mTBI do. Additionally, it has been found that neuroendocrinology may account for depressive symptoms and stress management due to irregularities in cortisol regulation, and thyroid hormone regulation. Lastly, there is evidence that major depression following TBI is quite common, but may be better accounted for with a diagnosis of dysexecutive syndrome.In a syndrome, a set of symptoms is consistently present, and symptoms are linked such that the presence of one symptom suggests that of others. Because PCS symptoms are so varied and many can be associated with a large number of other conditions, doubt exists about whether the term "syndrome" is appropriate for the constellation of symptoms found after concussion. The fact that the persistence of one symptom is not necessarily linked to that of another has similarly led to doubt about whether "syndrome" is the appropriate term.A longstanding controversy surrounding PCS concerns the nature of its etiology – that is, the cause behind it – and the degree to which psychological factors and organic factors involving brain dysfunction are responsible. The debate has been referred to as psychogenesis versus physiogenesis (psychogenesis referring to a psychological origin for the condition, physiogenesis to a physical one).
See also
Daniel Amen, post-concussion expert for the National Football League
References
== External links == |
Hereditary benign intraepithelial dyskeratosis | Hereditary benign intraepithelial dyskeratosis is a rare autosomal dominant disease of the conjunctiva and the oral mucosa caused by a duplication of chromosome 4q35. In the mouth it appears similar to white sponge nevus, with painless, diffuse, folded and spongy white plaques. In the eye it appears as gelatinous plaques on bulbar perilimbal conjunctiva.
== References == |
Microgenia | Microgenia is the medical term for an unusually small or deformed chin.The contrasting condition, an enlarged chin, is called "macrogenia".
Causes
Can occur in anyone, but is often a sign of Down syndrome.
== References == |
Xanthelasma | Xanthelasma is a sharply demarcated yellowish deposit of cholesterol underneath the skin. It usually occurs on or around the eyelids (xanthelasma palpebrarum, abbreviated XP). While they are neither harmful to the skin nor painful, these minor growths may be disfiguring and can be removed. There is a growing body of evidence for the association between xanthelasma deposits and blood low-density lipoprotein levels and increased risk of atherosclerosis.A xanthelasma may be referred to as a xanthoma when becoming larger and nodular, assuming tumorous proportions. Xanthelasma is often classified simply as a subtype of xanthoma.
Diagnosis
Xanthelasma in the form of XP can be diagnosed from clinical impression, although in some cases it may need to be distinguished (differential diagnosis) from other conditions, especially necrobiotic xanthogranuloma, syringoma, palpebral sarcoidosis, sebaceous hyperplasia, Erdheim–Chester disease, lipoid proteinosis (Urbach–Wiethe disease), and the syndrome of adult-onset asthma and periocular xanthogranuloma (AAPOX). Differential diagnosis can be accomplished by surgical excision followed by microscopic examination by a pathologist (biopsy to determine histopathology). The typical clinical impression of XP is soft, yellowish papules, plaques, or nodules, symmetrically distributed on the medial side of the upper eyelids; sometimes the lower eyelids are affected as well.
Treatment
Xanthelasmata can be removed with a trichloroacetic acid peel, surgery, lasers or cryotherapy. Removal may cause, although uncommon, scarring and pigment changes.
Prognosis
Recurrence is common: 40% of patients with XP had recurrence after primary surgical excision, 60% after secondary excision, and 80% when all four eyelids were involved. A possible cause might be insufficiently deep excisions.
Epidemiology
Xanthelasma is a rare disorder in the general population, with a variable incidence of 0.56 to 1.5% in western developed countries. The age of onset ranges from 15 to 75, with a peak in the 4th to 5th decades of life. There also seems to be a greater prevalence in females, but this might be due to higher consciousness to cosmetic defects.
Etymology
The word is derived from Greek xanthós, ξανθός yellow and élasma, έλασμα, foil. The plural is xanthelasmata.
See also
Xanthoma, a similar collection of cholesterol around tendons
List of xanthoma variants associated with hyperlipoproteinemia subtypes
References
== External links == |
Plummer–Vinson syndrome | Plummer–Vinson syndrome is a rare disease characterized by difficulty swallowing, iron-deficiency anemia, glossitis, cheilosis and esophageal webs. Treatment with iron supplementation and mechanical widening of the esophagus generally provides an excellent outcome.
While exact data about the epidemiology is unknown, this syndrome has become extremely rare. The reduction in the prevalence of Plummer–Vinson syndrome has been hypothesized to be the result of improvements in nutritional status and availability in countries where the syndrome was previously described. It generally occurs in perimenopausal women. Its identification and follow-up is considered relevant due to increased risk of squamous cell carcinomas of the esophagus and pharynx.
Presentation
Patients with Plummer–Vinson syndrome often have a burning sensation with the tongue and oral mucosa, and atrophy of lingual papillae produces a smooth, shiny, red, dorsum of the tongue. Symptoms include:
Dysphagia (difficulty swallowing)
Pain
Weakness
Odynophagia (painful swallowing)
Atrophic glossitis
Angular cheilitis
Koilonychia (Abnormally thin nails, also called spoon nails)
Splenomegaly (an enlarged spleen).
Upper esophageal webs (post cricoid region - contrasts with Schatzki rings found at the lower end of esophagus).Serial contrasted gastrointestinal radiography or upper-gastrointestinal endoscopy may reveal the web in the esophagus. Blood tests demonstrate a hypochromic microcytic anemia that is consistent with an iron-deficiency anemia. Biopsy of involved mucosa typically reveals epithelial atrophy (shrinking) and varying amounts of submucosal chronic inflammation. Epithelial atypia or dysplasia may be present. It may also present as a post-cricoid malignancy which can be detected by loss of laryngeal crepitus. Laryngeal crepitus is found normally and is produced because the cricoid cartilage rubs against the vertebrae.
Causes
The cause of Plummer–Vinson syndrome is unknown; however, genetic factors and nutritional deficiencies may play a role. It is more common in women, particularly in middle age, with a peak age over 50 years.
Diagnosis
The following clinical presentations may be used in the diagnosis of this condition.
Dizziness
Pallor of the conjunctiva and face
Erythematous oral mucosa with burning sensation
Breathlessness
Atrophic and smooth tongue
Peripheral rhagades around the oral cavityThe following tests are helpful in the diagnosis of Plummer–Vinson syndrome.
Lab tests
Complete blood cell counts, peripheral blood smears, and iron studies (e.g., serum iron, total iron-binding capacity, ferritin, and saturation percentage) to confirm iron deficiency, either with or without hypochromic microcytic anemia.
Imaging
Barium esophagography and videofluoroscopy will help to detect esophageal webs. Esophagogastroduodenoscopy will enable visual confirmation of esophageal webs. The webs occur due to sub-epithelial fibrosis.
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Prevention
Good nutrition with adequate intake of iron may prevent this disorder. Good nutrition should also include balanced diet and exercise.
Treatment
Treatment is primarily aimed at correcting the iron-deficiency anemia. Patients with Plummer–Vinson syndrome should receive iron supplementation in their diet. This may improve dysphagia and pain. If not, the web can be dilated with esophageal bougies during upper endoscopy to allow normal swallowing and passage of food. There is risk of perforation of the esophagus with the use of dilators for treatment.
Prognosis
Patients generally respond well to treatment. Iron supplementation usually resolves the anemia, and corrects the glossodynia (tongue pain). Plummer-Vinson syndrome is one of the risk factors for developing squamous cell carcinoma of the oral cavity, esophagus, and hypopharynx. Esophageal squamous cell carcinoma risk is also increased; therefore, it is considered a premalignant condition.
Epidemiology
PVS is an extremely rare condition, though its exact prevalence is unknown. While it is becoming less common in developed countries, the condition is increasingly found in developing countries, particularly in Asia. However, it is very rarely seen in African countries, despite the relatively high prevalence of iron deficiency.
History
The disease is named after two Americans working at the Mayo Clinic -- the physician Henry Stanley Plummer and the surgeon Porter Paisley Vinson. It is occasionally known as Paterson-Kelly or Paterson-Brown Kelly syndrome in the UK, after Derek Brown-Kelly and Donald Ross Paterson. However, Plummer–Vinson syndrome is still the most commonly used name.
See also
List of hematologic conditions
References
External links
00325 at CHORUS |
Open bite malocclusion | Open bite is a type of orthodontic malocclusion which has been estimated to occur in 0.6% of the people in the United States. This type of malocclusion has no vertical overlap or contact between the anterior incisors. The term "open bite" was coined by Carevelli in 1842.
Causes
Open bite malocclusion can happen due to several reasons. It may be genetic in nature, leading to a skeletal open bite or can be caused by functional habits which may lead to dental open bite. In the earlier age, open bite may occur due to a transitional change from primary to the permanent dentition. Some factors that may cause an open bite are:
Tongue thrusting
Thumb sucking
Long-term usage of Pacifier
Macroglossia
Airway obstruction
Adenoid hypertrophy
Nasal concha Hypertrophy
Types
Anterior open bite
An anterior open bite occurs in humans when the front teeth fail to touch and there is no overlap between upper incisors and lower incisors. Anterior open can be caused by functional habits such as digit sucking, tongue thrust or long-term pacifier use. When digit sucking habit is present in the late primary to early mixed dentition stages, it can lead to different side-effects such as upper teeth flaring out, lower teeth flaring in, increase in the open bite and the overjet. A posterior crossbite in these children along with decrease in intercanine and intermolar width is also found. The more intense (longer) the habit, the worse the malocclusion may be.Pacifier use has also shown to cause anterior open bites in children. Pacifier use which lasts longer than 18 months, may cause this malocclusion. It is shown that as long as the sucking habit stops before the eruption of permanent teeth, the open bite self-corrects. In some cases, behavior modification may be necessary to eliminate the dental habits. If all else fails, then a tongue crib can be used.
Posterior open bite
Posterior open bite is caused when posterior teeth such as molars or premolars fail to touch their counterpart tooth. This is more likely to occur in segments where there may be unilateral open bite or open bite related to one or more teeth. Failure of eruption of teeth either due to primary failure or mechanical obstruction during eruption phase can cause the open bite. Sometimes lateral tongue thrust may also prevent the eruption of the posterior teeth, thus eliminating this habit maybe key to eruption in those instances.
Skeletal open bite
Patient with skeletal open bites that accompany dental open bites may have Adenoid faces or Long face syndrome. They are said to have what is known as Hyperdivergent Growth Pattern which includes characteristics such as:
Increased Lower Anterior Facial Height
Occlusal plane diverges after the 1st molar contact
May accompany dental open bite
Narrow nostrils with upturned nose
Dolicofacial or Leptoprosopic face pattern
Constricted maxillary arch
Bilateral Posterior Crossbite
High and narrow palatal vault
Presence of crowding in teeth
Mentalis muscle strain upon forcibly closing of lips
Possible gummy smile with increased interlabial gapCephalometric analysis features of skeletal open bite may include:
Increased Frankfurt-Mandibular Plane angle
Steep Occlusal Plane Angle
Increased SN-MP Angle
Short Mandibular ramus
Increased mandibular body length
Downward and backward position of mandible
Increased gonial angle
Proclined upper incisors, retroclined or upright lower incisors
Posterior part of maxilla is tipped downwards
Posterior facial height equals 1/2 of anterior facial height
Increased hard tissue Lower Anterior Facial Height
Increased total anterior facial height
Short mandibular ramusViken Sassouni developed Sassouni analysis which indicates that patients with long face syndrome have 4 of their bony planes (mandibular plane, occlusal plane, palatal plane, SN plane) steep to each other.
Dental open bite
Dental open bite occurs in patients where the anterior teeth fail to touch. However, this is not accompanied by the skeletal tendency of having an open bite. Thus this type of open bite may happen in patients who have horizontal or hypodivergent growth pattern. These patients have normal jaw growth and do not have the long face syndrome. The anterior open bite in these patients may be caused by Macroglossia, Tongue thrusting habit or digit sucking habits. Some of the characteristics of a dental open bite include:
Normal lower anterior facial height
Horizontal/Hypodivergent growth pattern
Occlusal plane diverges after the premolar contact
Under-eruption of the anterior incisors
Over-eruption of the posterior molars
Proclined upper and lower incisors
No vertical maxillary excess or gummy smile
Presence of habits such as thumb sucking, tongue thrusting
Spacing between anterior incisors due to their proclination
Open bite correction
Primary/mixed dentition
Behavior modification
Behavior therapy is important especially when children are in their primary dentition in the pre-adolescent age. Improving habits at this time may lead to self-correction of open bite in many cases. Sometimes presence of infantile swallowing into early childhood may lead to an anterior open bite. Habit control through appliances such as Tongue crib or Tongue spurs may be used in adolescents if behavior modification fails to stop the habit.
Tongue crib therapy
A tongue crib is a removable appliance placed in the maxillary arch to stop the tongue thrusting habit. This appliance may be used in patients with mixed dentition or permanent dentition. The tongue crib is attached through a bar to two bands placed on the upper 1st molars. The crib is shaped like a horseshoe with metal bars that prevent thrusting. The tongue crib eliminates the habit in approximately 90% of patients. . Huang et al. published a study in 1990 which stated that patients who achieved a positive overbite during their tongue crib therapy had a good chance of maintaining that overbite after their orthodontic treatment. They credited this change to a change in the posterior positioning of the tongue due to the crib therapy.Some of the side-effects of using a tongue-crib therapy is that this appliance may trap food, causing inflammation around the appliance. Repeated contact of the tongue with the appliance may lead to an imprint on the tongue which will self-resolve when the appliance is removed. It is important to note that this type of therapy will only work in patients who do not have a skeletal open bite tendency. A skeletal open bite tendency may be addressed via surgery or other treatment.
Blue Grass appliance
Its a type of appliance which is similar to Nance appliance, but instead of acrylic pad that rests on the anterior palate, this appliance has a plastic roller that patient can use their tongue to break their habit. This appliance is banded to the upper 1st molars and bars extend the appliance to anterior palate where the plastic roller is placed.
Vertical pull chin cup
Hakan Iscan and others used vertical pull chin cup in 17 patients for 9 months where they applied 400g of force on each side. Compared to controls, they found that patients included in the experimental group had increased eruption of the mandibular incisors, decrease of the ramal inclination, decrease of the mandibular plane, increase of the overbite, decrease of the gonial angle and increase of the mandibular corpus inclination were found. They stated that vertical chin cup maybe effective in treating skeletal open bite patients. However, Pedrin et al. used removable plate with palatal crib and combined it with a high-pull chin cup in 30 patients for 12 months and compared it to 30 patients who were followed with no treatment. They found that no positive skeletal influence on the vertical facial pattern of patients treated for open bite in the mixed dentition by their stated protocol. Another study stated that there is no positive effect of vertical pull chin cup in controlling the vertical facial height and that close of an anterior open bite was mostly done by dentoalveolar changes.
Permanent dentition
Correction of open bite in permanent dentition may involve extrusion of the anterior teeth or intrusion of the posterior teeth. This decision depends on the incisor show on smiling for a patient. If a patient has normal incisor show at rest smile, than molar intrusion may be done in these type of faces. Extrusion of anterior teeth in these patients will lead to excessive gummy smile which in some cases is not desirable. If a patient does not have a normal incisor show at rest and smile, then anterior extrusion may be done in these patients.
High-Pull Headgear
This appliance can be used with patients who are growing and in permanent dentition. This appliance has been advocated to be used mainly for controlling the vertical dimension by applying force to intrude molars.
Elastics
Elastics have been used to correct anterior dental open bite. These elastics can be in configuration of triangular or anterior vertical elastics.
Bite blocks
R. Kuster and B. Ingerval in 1992, used two types of bite blocks to evaluate their effect on skeletal open bite patients. One group of patients had spring-loaded bite block for one year and other group had repelling magnets as bite blocks for 3 months. Both type of bite blocks exerted intrusive force on both upper and lower posterior teeth. They saw 3mm improvement in overbite with magnet group and 1.3mm improvement in overbite with spring-loaded group. They concluded that this effect resulted due to counter-clockwise rotation of mandible which was caused by intrusion of posterior teeth and increased eruption of incisors.
Glossectomy
There are not systematic reviews or randomized clinical control trials related to correction of open bite with partial tongue glossectomy but several case reports have been published indicating successful treatment of open bite with this surgical approach. Macroglossia has been reported to cause open bite and bimaxillary protrusion and is also known to be make orthodontic treatment unstable after its completion.
Orthognathic surgery
An orthognathic surgical approach can be taken to correct an open bite once vertical growth has finished in male and female patients. At that time, a Le-Fort I osteotomy to impact the maxilla is usually done. According to Proffit et al., surgical movement that involves maxillary impaction is the most stable surgical movement in the hierarchy they established. A two jaw surgery can also be performed where Bilateral Sagittal Split Osteotomy can be done to correct any Antero-Posterior changes of the mandible. However, with two jaw surgery a relapse leading to bite opening may happen due to condylar remodeling and resorption.
Stability and relapse
Surgery vs. non-surgery
Geoffrey Greenlee and others published a meta-analysis in 2011 which concluded that patients with orthognathic surgical correction of open bite had 82% stability in comparison to non-surgical correction of open bite which had 75% of stability after 1or more year of treatment. Both the groups started with 2–3 mm of open bite initially.
Molar intrusion
Man-Suk Baek and others evaluated long-term stability of anterior open bite by intrusion of maxillary posterior teeth. Their results showed that the molars were intruded by 2.39 mm during treatment and relapsed back by 0.45 mm or 22.8%. The incisal overbite increased by 5.56 mm during treatment and relapsed back by 1.20 mm or 17%. They concluded that majority of the relapse occurred during first year of treatment.
See also
Cephalometric analysis
Intrusion (orthodontics)
Long face syndrome
MEAW Technique
Malocclusion
== References == |
Focal lung pneumatosis | A focal lung pneumatosis, is an enclosed pocket of air or gas in the lung and includes blebs, bullae, pulmonary cysts, and lung cavities. Blebs and bullae can be classified by their wall thickness.
A bleb has a wall thickness of less than 1 mm. By radiology definition, it is up to 1 cm in total size. By pathology definition, it originates in the pleurae (rather than in the lung parenchyma).
A bulla has a wall thickness of less than 1 mm. By radiology definition, it has a total size of greater than 1 cm. By pathology definition, it originates in the lung parenchyma (rather than in the pleurae).
A lung cyst has a wall thickness of up to 4 mm. A minimum wall thickness of 1 mm has been suggested, but thin-walled pockets may be included in the definition as well.
A cavity has a wall thickness of more than 4 mm.The terms above, when referring to sites other than the lungs, often imply fluid content.
Lung cysts are seen in about 8% of the general population, with an increased prevalence in older people, and are not associated with emphysema. They may be part of the aging changes of the lungs, and cause a slight decrease in their diffusing capacity. The presence of multiple pulmonary cysts may indicate a need to evaluate the possibility of bullous or cystic lung diseases. Cavitation indicates workup for serious infection or lung cancer.
Bleb or bulla
The most common disease causing blebs or bullae is paraseptal emphysema though centrilobular emphysema may sometimes be involved.
Other conditions associated with lung bullae are:
Other conditions associated with lung bullae are:
Alpha 1-antitrypsin deficiency
Marfan syndrome
Ehlers–Danlos syndromes
Cocaine smoking
Sarcoidosis
HIV/AIDS
Intravenous substance abuse
Cyst
A pulmonary cyst is not necessarily the same type of cyst seen in many cystic lung diseases. The cyst for example in pneumocystis pneumonia is not the same as the pulmonary cyst.
Cystic lung diseases include:
Langerhans cell histiocytosis (LCH)
Lymphangioleiomyomatosis (LAM)
Lymphocytic interstitial pneumonia (LIP)
Birt–Hogg–Dubé syndrome
Pneumocystis pneumonia
Pulmonary amyloidosis
Light chain deposition disease
Lung metastases rarely cause multiple cystic lung lesions. This form of presentation has been described in metastatic sarcomas.
Incidental blebs and cysts
A focal lung pneumatosis that is an incidental imaging finding such as on a CT scan, without suspicious findings (such as findings indicating any of the diseases listed above), generally does not indicate further follow-up.
Cavity
Two infectious diseases that are commonly associated with cavities of lung tissue are Mycobacterium tuberculosis and Klebsiella pneumoniae. The formation of cavities is due to tissue necrosis and creates an environment that allows the pathogen to expand in numbers and spread further.In the absence of infectious symptoms, a lung nodule with cavitation is a suspected lung cancer.
== References == |
Aromatase excess syndrome | Aromatase excess syndrome (AES or AEXS) is a rare genetic and endocrine syndrome which is characterized by an overexpression of aromatase, the enzyme responsible for the biosynthesis of the estrogen sex hormones from the androgens, in turn resulting in excessive levels of circulating estrogens and, accordingly, symptoms of hyperestrogenism. It affects both sexes, manifesting itself in males as marked or complete phenotypical feminization (with the exception of the genitalia; i.e., no pseudohermaphroditism) and in females as hyperfeminization.To date, 30 males and 8 females with AEXS among 15 and 7 families, respectively, have been described in the medical literature.
Signs and symptoms
Observed physiological abnormalities of the condition include a dramatic overexpression of aromatase and, accordingly, excessive levels of estrogens including estrone and estradiol and a very high rate of peripheral conversion of androgens to estrogens. In one study, cellular aromatase mRNA expression was found to be at least 10 times higher in a female patient compared to the control, and the estradiol/testosterone ratio after an injection of testosterone in a male patient was found to be 100 times greater than the control. Additionally, in another study, androstenedione, testosterone, and dihydrotestosterone (DHT) were found to be either low or normal in males, and follicle-stimulating hormone (FSH) levels were very low (likely due to suppression by estrogen, which has antigonadotropic effects as a form of negative feedback inhibition on sex steroid production in sufficiently high amounts), whereas luteinizing hormone (LH) levels were normal.According to a recent review, estrone levels have been elevated in 17 of 18 patients (94%), while estradiol levels have been elevated only in 13 of 27 patients (48%). As such, estrone is the main estrogen elevated in the condition. In more than half of patients, circulating androstenedione and testosterone levels are low to subnormal. The ratio of circulating estradiol to testosterone is >10 in 75% of cases. FSH levels are said to be consistently low in the condition, while LH levels are in the low to normal range.It is notable that gynecomastia has been observed in patients in whom estradiol levels are within the normal range. This has been suggested to be due to in situ conversion of adrenal androgens into estrone and then estradiol (via local 17β-HSD) in breast tissue (where aromatase activity may be particularly high).The symptoms of AEXS, in males, include heterosexual precocity (precocious puberty with phenotypically-inappropriate secondary sexual characteristics; i.e., a fully or mostly feminized appearance), severe prepubertal or peripubertal gynecomastia (development of breasts in males before or around puberty), high-pitched voice, sparse facial hair, hypogonadism (dysfunctional gonads), oligozoospermia (low sperm count), small testes, micropenis (an unusually small penis), advanced bone maturation, an earlier peak height velocity (an accelerated rate of growth in regards to height), and short final stature due to early epiphyseal closure. The incidence of gynecomastia appears to be 100%, with 20 of 30 male cases opting for mastectomy according to a review.In females, symptoms of AEXS include isosexual precocity (precocious puberty with phenotypically-appropriate secondary sexual characteristics), macromastia (excessively large breasts), an enlarged uterus, menstrual irregularities, and, similarly to males, accelerated bone maturation and short final height. Of seven females described in one report, three (43%) had macromastia. Pubertal breast hypertrophy in association with AEXS has been described in two young girls.Fertility, though usually affected to one degree or another—especially in males—is not always impaired significantly enough to prevent sexual reproduction, as evidenced by vertical transmission of the condition by both sexes.
Cause
The root cause of AEXS is not entirely clear, but it has been elucidated that inheritable, autosomal dominant genetic mutations affecting CYP19A1, the gene which encodes aromatase, are involved in its etiology. Different mutations are associated with differential severity of symptoms, such as mild to severe gynecomastia. For example, duplications result in relatively mild gynecomastia, while deletions, resulting in chimeric genes, cause moderate or severe gynecomastia.
Diagnosis
Genetic tests are now available to identify the variants in CYP19A1 associated with AEXS. The National Institutes of Health maintains a list.
Treatment
Several treatments have been found to be effective in managing AEXS, including aromatase inhibitors and gonadotropin-releasing hormone analogues in both sexes, androgen replacement therapy with non-aromatizable androgens such as DHT in males, and progestogens (which, by virtue of their antigonadotropic properties at high doses, suppress estrogen levels) in females. In addition, male patients often seek bilateral mastectomy, whereas females may opt for breast reduction if warranted.Medical treatment of AEXS is not absolutely necessary, but it is recommended as the condition, if left untreated, may lead to excessively large breasts (which may necessitate surgical reduction), problems with fertility, and an increased risk of endometriosis and estrogen-dependent cancers such as breast and endometrial cancers later in life. At least one case of male breast cancer has been reported.
Society and culture
Names
AEXS has also been referred to as familial hyperestrogenism, familial gynecomastia, and familial adrenal feminization.
Notable cases
It has been hypothesized that the Pharaoh Akhenaten (husband of Queen Nefertiti) and other members of the 18th Dynasty of ancient Egypt may have had AEXS. Akhenaten and his relatives, including men and young girls, many of whom were the product of inbreeding, are described as having breasts and wide hips, and Akhenaten was described as having a "beautiful and feminine voice," unusual physical features that could be explained by AEXS or another form of hereditary hyperestrogenism. However, numerous other physical abnormalities were also present in the Akhenaten family, and a variety of other conditions have been proposed to explain the observations instead. Most recently, Loeys–Dietz syndrome was proposed as a probable cause, with gynecomastia and feminization possibly being caused by liver cirrhosis-induced hyperestrogenism.
See also
Androgen insensitivity syndrome
Aromatase deficiency
Congenital estrogen deficiency
Disorders of sex development
Estrogen insensitivity syndrome
Hyperestrogenism
Inborn errors of steroid metabolism
Intersex
References
== External links == |
Crush syndrome | Crush syndrome (also traumatic rhabdomyolysis or Bywaters syndrome) is a medical condition characterized by major shock and kidney failure after a crushing injury to skeletal muscle. Crush injury is compression of the arms, legs, or other parts of the body that causes muscle swelling and/or neurological disturbances in the affected areas of the body, while crush syndrome is localized crush injury with systemic manifestations. Cases occur commonly in catastrophes such as earthquakes, to individuals that have been trapped under fallen or moving masonry.
People with crushing damage present some of the greatest challenges in field medicine, and may need a physicians attention on the site of their injury. Appropriate physiological preparation of the injured is mandatory. It may be possible to free the patient without amputation; however, field amputations may be necessary in drastic situations.
Pathophysiology
Seigo Minami, a Japanese physician, first reported the crush syndrome in 1923. He studied the pathology of three soldiers who died in World War I due to kidney failure. The renal changes were due to the buildup of excess myoglobin, resulting from the destruction of muscles from lack of oxygen. These changes can also be seen in persons who are buried alive. The progressive acute kidney failure is because of acute tubular necrosis.
The syndrome was later described by British physician Eric Bywaters in patients during the 1941 wartime bombing of London (the Blitz). It is a reperfusion injury that appears after the release of the crushing pressure. The mechanism is believed to be the release into the bloodstream of muscle breakdown products—notably myoglobin, potassium and phosphorus—that are the products of rhabdomyolysis (the breakdown of skeletal muscle damaged by ischemic conditions).
The specific action on the kidneys is not understood completely, but may be due partly to nephrotoxic metabolites of myoglobin.
The most devastating systemic effects can occur when the crushing pressure is suddenly released, without proper preparation of the patient, causing reperfusion syndrome. In addition to tissue directly suffering the crush mechanism, tissue is then subjected to sudden reoxygenation in the limbs and extremities. Without proper preparation, the patient, with pain control, may be cheerful before recovery, but die shortly thereafter. This sudden failure is called the "smiling death".These systemic effects are caused by a traumatic rhabdomyolysis. As muscle cells die, they absorb sodium, water and calcium; the rhabdomyolysis releases potassium, myoglobin, phosphate, thromboplastin, creatine and creatine kinase.Crush syndrome can directly come from compartment syndrome, if the injury is left untreated. Symptoms include the 5 Ps: pain, pallor, paresthesias (pins and needles), paralysis, and pulselessness.
Treatment
There is no distinct treatment option that can undo the effects and damage from rhabdomyolysis because it is a necrosis. However, the rate of the pathology that can lead to more complications can be decreased by acting early and consistently. Overall treatment depends on preventing kidney failure (renal failure) which is done by rehydrating the patient. It also depends on making urine have a more basic pH (alkalinization of urine).
Immediate untreated crush syndrome death is caused by severe head injury, torso injury with damaged abdominal organs, and asphyxia (excessive loss of oxygen). Early untreated crush syndrome death is caused by hyperkalemia and by hypovolemic shock. Late untreated crush syndrome death is caused by renal failure, coagulopathy and hemorrhage, and sepsis.Due to the risk of crush syndrome, current recommendation to nonprofessional first-aiders (in the UK) is to not release those with a crush injury who have been trapped for more than 15 minutes. Treatment consists of not releasing the tourniquet, overloading the patient with fluid using Dextran 4000 IU, and slow release of pressure. If pressure is released during first aid, then fluid is restricted and an input-output chart for the patient is maintained, and proteins are decreased in the diet.
Field management
As mentioned, permissive hypotension (restrictive fluid therapy) is unwise. Careful fluid overload and administration of intravenous sodium bicarbonate is wise, especially if the crushing weight is on the patient for more than 4 hours, but often if it persists more than one hour. The San Francisco emergency services protocol calls for a basic adult dose of a 2 L bolus of normal saline followed by 500 mL/h, limited for "pediatric patients and patients with history of cardiac or renal dysfunction."Use of a tourniquet can stall the life-threatening consequences of a crush related injury and can be a second option if the person cannot immediately have the fluids that were lost be medically replaced back into the body. Tourniquet measures should be taken if the person has been entrapped for more than 2 hours.
Initial hospital management
The clinician must protect the patient against hypotension, kidney failure, acidosis, hyperkalemia and hypocalcemia. Admission to an intensive care unit, preferably one experienced in trauma medicine, may be appropriate; even well-seeming patients need observation. Treat open wounds as surgically appropriate, with debridement, antibiotics and tetanus toxoid; apply ice to injured areas. Breathing and circulation must be checked out and the patient should be given oxygen if eligible. Oral or intravenous fluids must be given depending on the measured amounts of electrolytes, arterial blood gases, and muscle enzymes.Intravenous hydration of up to 1.5 L/h should continue to prevent hypotension. A urinary output of at least 300 mL/h should be maintained with IV fluids and mannitol, and hemodialysis considered if an increase in urine is not achieved. Use intravenous sodium bicarbonate to keep the urine pH at 6.5 or greater, to prevent myoglobin and uric acid deposition in kidneys.
To prevent hyperkalemia/hypocalcemia, consider the following adult doses:
calcium gluconate 10% 10 mL or calcium chloride 10% 5 mL IV over 2 minutes
sodium bicarbonate 1 meq/kg IV slow push
regular insulin 5–10 U
50% glucose 1–2 ampules IV bolus
kayexalate 25–50 g with sorbitol 20% 100 mL by mouth or rectum.Even so, abnormal heart rhythms may develop; electrocardiographic monitoring is advised, and specific treatment begun promptly.
References
Sever MS, Vanholder R, Lameire N (2006). "Management of crush-related injuries after disasters". The New England Journal of Medicine. 354 (10): 1052–63. doi:10.1056/NEJMra054329. PMID 16525142.
External links
Life or Limb: What happens when your leg gets trapped under a building? |
Vascular tumor | A vascular tumor is a tumor of vascular origin; a soft tissue growth that can be either benign or malignant, formed from blood vessels or lymph vessels. Examples of vascular tumors include hemangiomas, lymphangiomas, hemangioendotheliomas, Kaposis sarcomas, angiosarcomas, and hemangioblastomas. An angioma refers to any type of benign vascular tumor.Some vascular tumors can be associated with serious blood-clotting disorders, making correct diagnosis critical.A vascular tumor may be described in terms of being highly vascularized, or poorly vascularized, referring to the degree of blood supply to the tumor.
Classification
Vascular tumors make up one of the classifications of vascular anomalies. The other grouping is vascular malformations. Vascular tumors can be further subclassified as being benign, borderline or aggressive, and malignant. Vascular tumors are described as proliferative, and vascular malformations as nonproliferative.
Types
A vascular tumor typically grows quickly by the proliferation of endothelial cells. Most are not birth defects.
Benign
The most common type of benign vascular tumors are hemangiomas, most commonly infantile hemangiomas, and less commonly congenital hemangiomas.
Infantile hemangioma
Infantile hemangiomas are the most common type of vascular tumor to affect babies, accounting for 90% of hemangiomas. They are characterised by the abnormal proliferation of endothelial cells and of deviant blood vessel formation or architecture. Hypoxic stress seems to be a major trigger for this. Infantile hemangiomas are easily diagnosed, and little if any aggressive treatment is needed. They are characterised by rapid growth in the first few months, followed by spontaneous regression in early childhood.
Congenital hemangioma
Congenital hemangiomas are present and fully formed at birth, and only account for 2% of the hemangiomas. They do not have the postnatal phase of proliferation common to infantile hemangiomas. There are two main variants of congenital hemangioma: non-involuting, and rapidly involuting (beginning in the first year of life). A third variant is also recognised as partially involuting. Congenital hemangiomas can also be distinguished from infantile hemangiomas in that neither variant of congenital hemangioma expresses the glucose transporter GLUT 1.Some cases have been associated with a mild form of thrombocytopenia. Rare cases have been associated with heart failure.
Hemangioblastoma
Hemangioblastomas are vascular tumors of the central nervous system.
Pyogenic granuloma
A range of benign vascular tumors are described as reactive proliferative lesions that grow in response to a stimulus, such as trauma, or a local thrombosis. They can also form infrequently during pregnancy as a hormonal reaction affecting the gums.The most common type of reactive proliferative tumors are pyogenic granulomas also known as lobular capillary hemangiomas, that are more often found in children and young adults. These granulomas are well defined growths of less than a centimetre across. They are bright red due to being highly vascularised, and bleed and ulcerate easily. Their colouring fades with age.
Tufted angioma
Tufted angiomas are hereditary hemangiomas found in infants from birth to five years of age, however they may occur in adults. They are found on the neck, shoulders, and trunk as rounded nodules. Tufted angiomas are usually poorly defined lesions of purple colouration. The tumors are of tufts of capillary-sized vessels in lobules that are scattered in the skin, and that sometimes reach into the subcutaneous tissue, and have lymph vessels on the periphery. Their growth is slow to begin with, and progresses to a stable size. They show a high rate of spontaneous regression, particularly in congenital and early-onset cases. They typically have a deep nodular component sometimes extending into the subcutaneous tissue, fascia, and muscle, and can sometimes be painful. Tufted angiomas are associated with arteriovenous malformations.The origin of tufted angiomas is not clear but markers on the cells suggest a possible derivation from the endothelial cells of lymph vessels. They are also associated with the local secretion of growth factors that affect angiogenesis and promote the development of vascular lobules.
Borderline
Kaposiform hemangioendotheliomas (KHEs) are borderline, locally destructive vascular tumors. They are named after their resemblance to the lesions of Kaposis sarcoma. KHEs are described as locally destructive because they can infiltrate underlying muscle and fat. They are often seen to overlap with tufted angiomas (TAs) but TAs may be a milder, benign counterpart.KHEs show as a red or purple expanding mass of soft tissue, found mostly in infants. Under the microscope KHE is characterised by nodules of tumor-like spindled endothelial cells. Unlike infantile hemangiomas, KHEs have a high mortality rate. Both KHEs and TAs are unique in that they carry the risk of the development of Kasabach–Merritt syndrome.
Malignant
Malignant vascular tumors are rare, and include angiosarcomas, and epithelioid hemangioendotheliomas. Other types are hemangiopericytomas, and lymphangiosarcomas.
== References == |
Cyclopia | Cyclopia (named after the Greek mythology character cyclopes) is the most extreme form of holoprosencephaly and is a congenital disorder (birth defect) characterized by the failure of the embryonic prosencephalon to properly divide the orbits of the eye into two cavities. Its incidence is 1 in 16,000 in born animals and 1 in 200 in miscarried fetuses.
Signs and symptoms
Typically, the nose is either missing or not functional. This deformity (called proboscis) forms above the center eye and is characteristic of a form of cyclopia called rhinencephaly or rhinocephaly. Most such embryos are either naturally aborted or are stillborn upon delivery.
Although cyclopia is rare, several cyclopic human babies are preserved in medical museums (e.g. The Vrolik Museum, Amsterdam, Trivandrum Medical College).Some extreme cases of cyclopia have been documented in farm animals (horses, sheep, pigs, and sometimes chickens). In such cases, the nose and mouth fail to form, or the nose grows from the roof of the mouth, obstructing airflow and resulting in suffocation shortly after birth.
Causes
Genetic defects or toxins can misdirect the embryonic forebrain-dividing process. One highly teratogenic alkaloid toxin that can cause cyclopia is cyclopamine or 2-deoxyjervine, found in the plant Veratrum californicum (also known as corn lily or false hellebore). Grazing animals are most likely to ingest this plant and induce cyclopia in offspring. People sometimes accidentally ingest false hellebore while pregnant, thinking it is hellebore, an unrelated plant which does not even resemble false hellebore, being recommended as a "natural" treatment for vomiting, cramps, and poor circulation, three conditions which may be present in the early stages of pregnancy. Cyclopia occurs when certain proteins are inappropriately expressed, causing the brain to stay whole, rather than developing two distinct hemispheres. This leads to the fetus having one optic lobe and one olfactory lobe, resulting in the eye and nose malformations of cyclopia.The Sonic Hedgehog (SHH) gene regulator is involved in the separation of the single eye field into two bilateral fields.
Although not proven, it is thought that SHH emitted from the prechordal plate suppresses Pax6, which causes the eye field to divide into two. If the SHH gene is mutated, the result is cyclopia, a single eye in the center of the face (Gilbert, 2000).
Notable cases
A British description from 1665 of a colt apparently suffering from cyclopia reads:First, That it had no sign of any Nose in the usual place, nor had it any, in any other place of the Head, unless the double Bagg CC that grew out of the midst of the forehead, were some rudiment of it. Next, That the two Eyes were united into one Double Eye which was placed just in the middle of the Brow.
In October 1766, an infant in France was born with cyclopia, living for only a few hours. Reports of the case were made in the Mercure de France and an illustration of the infant was made by Marie Bihéron. The case was also mentioned in Volume IV of Buffons LHistoire Naturelle.
On 1 March 1793, a 46-year-old woman in Boalts Torp, Glimåkra, Sweden gave birth to a child with cyclopia that died after two hours. The child was 35 cm long, its face without nose and nostrils, and its lidless eye with no eyebrow sat raised on the middle of its forehead like a large blueberry. The wrists were somewhat crooked as well as the right foot which was completely crooked and bent inwards. It was not clear whether it was a boy or a girl, but it was believed to be the former.
On December 28, 2005, a kitten with cyclopia, "Cy", was born in Redmond, Oregon, United States and died about one day after birth.
In 2006, a baby girl in India with cyclopia was born. Her only eye was in the center of her forehead. She did not have a nose and her brain did not separate into two separate hemispheres (holoprosencephaly). The child died one day after her birth.
In 2011, an albino cyclops shark fetus was discovered in the body of a caught shark in Mexico, with no discernible nose and one giant eye. The unborn fetus was turned over for medical studies.
On October 10, 2012, a small kitten was born. Its eye was in the center of the forehead and there was no developed nose to be found. The small cat died shortly after it was born. It was nicknamed Cleyed the Cyclops.
On May 10, 2017, in Assam, India, a black goat was born with one eye and other cyclopia-related facial abnormalities. It was reported to still be alive over a week later, which is unusual for this condition.
On September 13, 2018, in Mandailing Natal, North Sumatera, Indonesia, a baby with cyclopia was born without a nose and one eye with the weight of 2.4 kg (5.3 lb) and heart rate under 100 bpm. The child died seven hours after birth.
Cultural significance
The Islamic State of Iraq and the Levant used photos of babies born with cyclopia in its recruitment campaign. ISIL claimed the photos depicted Masih ad-Dajjal, who according to the Hadith, would have only one eye. Mainstream Islamic scholars consider the prophecy as referring to a one-eyed man, not a cyclops.
See also
Hedgehog pathway
Cyclopes
Anophthalmia
References
== External links == |
Lethal midline granuloma | Lethal midline granuloma (LMG) is an historical term for a condition in which necrotic and highly destructive lesions develop progressively in the middle of the face, principally the nose and palate. Many cases presented with ulcerations in or perforations of the palate.
LMG was thought to be a manifestation of three or four different diseases: the well-characterized disease of granulomatosis with polyangiitis, the ill-defined disorders of polymorphic reticulosis or mid-line malignant reticulosis, and an incompletely defined form of non-Hodgkins lymphoma. Subsequent studies found that the cells infiltrating the midline tissues in cases of lethal midline granuloma that were not clearly diagnosed as granulomatosis with polyangiitis were: a) infected by the Epstein-Barr virus and b) consisted of malignant lymphocytes, usually NK cells or, rarely, cytotoxic T cells. The disease is therefore now regarded as a NK/T cell malignancy, is grouped with other Epstein-Barr virus-associated lymphoproliferative diseases and is classified by the World Health Organization (2017 update) as a manifestation of the well-defined disease, extranodal NK/T-cell lymphoma, nasal type (ENKTCL-NT).
ENKTCL-NT is a rare type of lymphoma that commonly involves the nasal cavity, oral cavity, and/or pharynx but less commonly can also involve the eye, larynx, lung, gastrointestinal tract, skin, and various other tissues. Patients presenting with highly localized midline facial disease fit the historical definition of lethal midline granuloma. These cases, unlike other cases ENKTCL-NT that have more widespread disease, often show no or relatively little progression of their disease over long periods of time. Since cases of LMG that were manifestations of granulomatosis with polyangiitis, a vascular inflammatory but not malignant disease, the term lethal midline granuloma is considered confusing and obsolete.
References
== External links == |
Reye syndrome | Reye syndrome is a rapidly worsening brain disease. Symptoms of Reye syndrome may include vomiting, personality changes, confusion, seizures, and loss of consciousness. While liver toxicity typically occurs in the syndrome, jaundice usually does not. Death occurs in 20–40% of those affected with Reye syndrome, and about a third of those who survive are left with a significant degree of brain damage.The cause of Reye syndrome is unknown. It usually begins shortly after recovery from a viral infection, such as influenza or chickenpox. About 90% of cases in children are associated with aspirin (salicylate) use. Inborn errors of metabolism are also a risk factor. The syndrome is associated with changes on blood tests such as a high blood ammonia level, low blood sugar level, and prolonged prothrombin time. Often, the liver is enlarged in the syndrome.Prevention is typically by avoiding the use of aspirin in children. When aspirin was withdrawn for use in children in the US and UK in the 1980s, a decrease of more than 90% in rates of Reye syndrome was seen. Early diagnosis of the syndrome improves outcomes. Treatment is supportive; mannitol may be used to help with the brain swelling.The first detailed description of Reye syndrome was in 1963 by Australian pathologist Douglas Reye. The syndrome most commonly affects children. It affects fewer than one in a million children a year. The general recommendation to use aspirin in children was withdrawn because of Reye syndrome, with use only recommended in Kawasaki disease.
Signs and symptoms
Reye syndrome progresses through five stages:
Stage I
Vasoconstrictive rash on palms of hands and feet
Persistent, heavy vomiting that is not relieved by not eating
Generalized lethargy
Confusion
Nightmares (possible symptom)
No fever usually present
Headaches
Stage II
Stupor
Hyperventilation
Fatty liver (found on biopsy)
Hyperactive reflexes
Stage III
Continuation of Stage I and II symptoms
Possible coma
Possible cerebral edema
Rarely, respiratory arrest
Stage IV
Deepening coma
Dilated pupils with minimal response to light
Minimal but still present liver dysfunction
Stage V
Very rapid onset following stage IV
Deep coma
Seizures
Multiple organ failure
Flaccidity
Hyperammonemia (above 300 mg/dL of blood)
Death
Causes
The cause of Reye syndrome is unknown. It usually begins shortly after recovery from a viral infection, such as influenza or chickenpox. About 90% of cases in children are associated with aspirin (salicylate) use. Inborn errors of metabolism are also a risk factor.The association with aspirin has been shown through epidemiological studies. The diagnosis of Reye syndrome greatly decreased in the 1980s, when genetic testing for inborn errors of metabolism was becoming available in developed countries. A retrospective study of 49 survivors of cases diagnosed as Reye syndrome showed that the majority of the surviving patients had various metabolic disorders, particularly a fatty-acid oxidation disorder medium-chain acyl-CoA dehydrogenase deficiency.
Aspirin
There is an association between taking aspirin for viral illnesses and the development of Reye syndrome, but no animal model of Reye syndrome has been developed in which aspirin causes the condition.The serious symptoms of Reye syndrome appear to result from damage to cellular mitochondria, at least in the liver, and there is a number of ways that aspirin could cause or exacerbate mitochondrial damage. A potential increased risk of developing Reye syndrome is one of the main reasons that aspirin has not been recommended for use in children and teenagers, the age group for which the risk of lasting serious effects is highest.In some countries, oral mouthcare product Bonjela (not the form specifically designed for teething) has labeling cautioning against its use in children, given its salicylate content. There have been no cases of Reye syndrome following its use, and the measure is a precaution. Other medications containing salicylates are often similarly labeled as a precaution.The Centers for Disease Control and Prevention (CDC), the U.S. Surgeon General, the American Academy of Pediatrics (AAP) and the Food and Drug Administration (FDA) recommend that aspirin and combination products containing aspirin not be given to children under 19 years of age during episodes of fever-causing illnesses. Hence, in the United States, it is advised that the opinion of a doctor or pharmacist should be obtained before anyone under 19 years of age is given any medication containing aspirin (also known on some medicine labels as acetylsalicylate, salicylate, acetylsalicylic acid, ASA, or salicylic acid).Current advice in the United Kingdom by the Committee on Safety of Medicines is that aspirin should not be given to those under the age of 16 years, unless specifically indicated in Kawasaki disease or in the prevention of blood clot formation.
Diagnosis
Differential diagnosis
Causes for similar symptoms include
Various inborn metabolic disorders
Viral encephalitis
Drug overdose or poisoning
Head trauma
Liver failure due to other causes
Meningitis
Kidney failure
Shaken baby syndrome
Treatment
Treatment is supportive. Mannitol may be used to help with the brain swelling.
Prognosis
Documented cases of Reye syndrome in adults are rare. The recovery of adults with the syndrome is generally complete, with liver and brain function returning to normal within two weeks of onset.In children, mild to severe permanent brain damage is possible, especially in infants. Over thirty percent of the cases reported in the United States from 1981 through 1997 resulted in fatality.
Epidemiology
Reye syndrome occurs almost exclusively in children. While a few adult cases have been reported over the years, these cases do not typically show permanent neural or liver damage. Unlike in the United Kingdom, the surveillance for Reye syndrome in the United States is focused on people under 18 years of age.In 1980, after the CDC began cautioning physicians and parents about the association between Reye syndrome and the use of salicylates in children with chickenpox or virus-like illnesses, the incidence of Reye syndrome in the United States began to decline, prior to the FDAs issue of warning labels on aspirin in 1986. In the United States between 1980 and 1997, the number of reported cases of Reye syndrome decreased from 555 cases in 1980 to about two cases per year since 1994. During this time period 93% of reported cases for which racial data were available occurred in whites and the median age was six years. In 93% of cases a viral illness had occurred in the preceding three-week period. For the period 1991–1994, the annual rate of hospitalizations due to Reye syndrome in the United States was estimated to be between 0.2 and 1.1 per million population less than 18 years of age.During the 1980s, a case-control study carried out in the United Kingdom also demonstrated an association between Reye syndrome and aspirin exposure. In June 1986, the United Kingdom Committee on Safety of Medicines issued warnings against the use of aspirin in children under 12 years of age and warning labels on aspirin-containing medications were introduced. United Kingdom surveillance for Reye syndrome documented a decline in the incidence of the illness after 1986. The reported incidence rate of Reye syndrome decreased from a high of 0.63 per 100,000 population less than 12 years of age in 1983–1984 to 0.11 in 1990–1991.From November 1995 to November 1996 in France, a national survey of pediatric departments for children under 15 years of age with unexplained encephalopathy and a threefold (or greater) increase in serum aminotransferase and/or ammonia led to the identification of nine definite cases of Reye syndrome (0.79 cases per million children). Eight of the nine children with Reye syndrome were found to have been exposed to aspirin. In part because of this survey result, the French Medicines Agency reinforced the international attention to the relationship between aspirin and Reye syndrome by issuing its own public and professional warnings about this relationship.
History
The syndrome is named after Douglas Reye, who, along with fellow physicians Graeme Morgan and Jim Baral, published the first study of the syndrome in 1963 in The Lancet. In retrospect, the occurrence of the syndrome may have first been reported in 1929. Also in 1964, George Johnson and colleagues published an investigation of an outbreak of influenza B that described 16 children who developed neurological problems, four of whom had a profile remarkably similar to Reye syndrome. Some investigators refer to this disorder as Reye-Johnson syndrome, although it is more commonly called Reye syndrome. In 1979, Karen Starko and colleagues conducted a case-control study in Phoenix, Arizona, and found the first statistically significant link between aspirin use and Reye syndrome. Studies in Ohio and Michigan soon confirmed her findings pointing to the use of aspirin during an upper respiratory tract or chickenpox infection as a possible trigger of the syndrome. Beginning in 1980, the CDC cautioned physicians and parents about the association between Reye syndrome and the use of salicylates in children and teenagers with chickenpox or virus-like illnesses. In 1982 the U.S. Surgeon General issued an advisory, and in 1986 the Food and Drug Administration required a Reye syndrome-related warning label for all aspirin-containing medications.
References
External links
NINDS Reyes Syndrome Information Page |
Classification of pneumonia | Pneumonia can be classified in several ways, most commonly by where it was acquired (hospital versus community), but may also by the area of lung affected or by the causative organism. There is also a combined clinical classification, which combines factors such as age, risk factors for certain microorganisms, the presence of underlying lung disease or systemic disease and whether the person has recently been hospitalized.
By location acquired
Community-acquired
Community-acquired pneumonia (CAP) is infectious pneumonia in a person who has not recently been hospitalized. CAP is the most common type of pneumonia. The most common causes of CAP vary depending on a persons age, but they include Streptococcus pneumoniae, viruses, the atypical bacteria, and Haemophilus influenzae. Overall, Streptococcus pneumoniae is the most common cause of community-acquired pneumonia worldwide. Gram-negative bacteria cause CAP in certain at-risk populations. CAP is the fourth most common cause of death in the United Kingdom and the sixth in the United States. The term "walking pneumonia" has been used to describe a type of community-acquired pneumonia of less severity (because the sufferer can continue to "walk" rather than requiring hospitalization). Walking pneumonia is usually caused by the atypical bacterium, Mycoplasma pneumoniae.
Hospital-acquired
Hospital-acquired pneumonia, also called nosocomial pneumonia, is pneumonia acquired during or after hospitalization for another illness or procedure with onset at least 72 hrs after admission. The causes, microbiology, treatment and prognosis are different from those of community-acquired pneumonia. Up to 5% of patients admitted to a hospital for other causes subsequently develop pneumonia. Hospitalized patients may have many risk factors for pneumonia, including mechanical ventilation, prolonged malnutrition, underlying heart and lung diseases, decreased amounts of stomach acid, and immune disturbances. Additionally, the microorganisms a person is exposed to in a hospital are often different from those at home. Hospital-acquired microorganisms may include resistant bacteria such as MRSA, Pseudomonas, Enterobacter, and Serratia. Because individuals with hospital-acquired pneumonia usually have underlying illnesses and are exposed to more dangerous bacteria, it tends to be more deadly than community-acquired pneumonia. Ventilator-associated pneumonia (VAP) is a subset of hospital-acquired pneumonia. VAP is pneumonia which occurs after at least 48 hours of intubation and mechanical ventilation.
By cause
Pneumonia has historically been characterized as either typical or atypical depending on the presenting symptoms and thus the presumed underlying organism. Attempting to make this distinction based on symptoms, however, has not been found to be accurate, and The American Thoracic Society does not recommend its use.
Bronchiolitis obliterans organizing pneumonia
Bronchiolitis obliterans organizing pneumonia (BOOP) is caused by inflammation of the small airways of the lungs. It is also known as cryptogenic organizing pneumonitis (COP).
Eosinophilic pneumonia
Eosinophilic pneumonia is invasion of the lung by eosinophils, a particular kind of white blood cell. Eosinophilic pneumonia often occurs in response to infection with a parasite or after exposure to certain types of environmental factors.
Chemical pneumonia
Chemical pneumonia (usually called chemical pneumonitis) is caused by chemical toxicants such as pesticides, which may enter the body by inhalation or by skin contact. When the toxic substance is an oil, the pneumonia may be called lipoid pneumonia.
Aspiration pneumonia
Aspiration pneumonia (or aspiration pneumonitis) is caused by aspirating foreign objects which are usually oral or gastric contents, either while eating, or after reflux or vomiting which results in bronchopneumonia. The resulting lung inflammation is not an infection but can contribute to one, since the material aspirated may contain anaerobic bacteria or other unusual causes of pneumonia. Aspiration is a leading cause of death among hospital and nursing home patients, since they often cannot adequately protect their airways and may have otherwise impaired defenses.
Dust pneumonia
Dust pneumonia describes disorders caused by excessive exposure to dust storms, particularly during the Dust Bowl in the United States. With dust pneumonia, dust settles all the way into the alveoli of the lungs, stopping the cilia from moving and preventing the lungs from ever clearing themselves.
Necrotizing pneumonia
Necrotizing pneumonia (NP), also known as cavitary pneumonia or cavitatory necrosis, is a rare but severe complication of lung parenchymal infection. In necrotizing pneumonia, there is a substantial liquefaction following death of the lung tissue, which may lead to gangrene formation in the lung. In most cases patients with NP have fever, cough and bad breath, and those with more indolent infections have weight loss. Often patients clinically present with acute respiratory failure. The most common pathogens responsible for NP are Streptococcus pneumonia, Staphylococcus aureus, Klebsiella pneumoniae.
Opportunistic pneumonia
People with weakened immune defense, such as HIV/AIDS patients, are highly susceptible to opportunistic infections affecting the lungs. Most common pathogens are Pneumocystis jiroveci, Mycobacterium avium-intracellulare complex, Streptococcus pneumoniae, Haemophilus species. Less frequent pathogens are Cryptococcus neoformans, Histoplasma capsulatum, Coccidioides immitis, cytomegalovirus (CMV), and Toxoplasma gondii.
Chemotherapy-induced immunodeficiency may lead to severe lung infections. Pathogens commonly associated with lung infectioins are bacteria (like Pseudomonas aeruginosa, Stenotrophomonas maltophilia, and Nocardia species), viruses (eg, respiratory syncytial virus, parainfluenza virus, influenza virus A and influenza B, and cytomegalovirus), and fungi (eg, Aspergillus, Fusarium, and Mucorales species, and Pneumocystis jirovecii).
Double pneumonia (bilateral pneumonia)
This is a historical term for acute lung injury (ALI) or acute respiratory distress syndrome (ARDS). However, the term was and, especially by lay people, still is used to denote pneumonia affecting both lungs. Accordingly, the term double pneumonia is more likely to be used to describe bilateral pneumonia than it is ALI or ARDS.
Severe acute respiratory syndrome
Severe acute respiratory syndrome (SARS) is a highly contagious and deadly type of pneumonia which first occurred in Nov-2002 after initial outbreaks in China caused by SARS-CoV/SARS-CoV-1,which almost disappeared by the month of May-2004. The second outbreak of SARS-CoV-2 started in December 2019 from Wuhan, China and was declared pandemic by WHO on 11 March 2020. SARS is caused by the SARS coronavirus, a previously unknown pathogen.
By area of lung affected
Initial descriptions of pneumonia focused on the anatomic or pathologic appearance of the lung, either by direct inspection at autopsy or by its appearance under a microscope.
A lobar pneumonia is an infection that only involves a single lobe, or section, of a lung. Lobar pneumonia is often due to Streptococcus pneumoniae (though Klebsiella pneumoniae is also possible.)
Multilobar pneumonia involves more than one lobe, and it often causes a more severe illness.
Bronchial pneumonia affects the lungs in patches around the tubes (bronchi or bronchioles).
Interstitial pneumonia involves the areas in between the alveoli, and it may be called "interstitial pneumonitis." It is more likely to be caused by viruses or by atypical bacteria.The discovery of x-rays made it possible to determine the anatomic type of pneumonia without direct examination of the lungs at autopsy and led to the development of a radiological classification. Early investigators distinguished between typical lobar pneumonia and atypical (e.g. Chlamydophila) or viral pneumonia using the location, distribution, and appearance of the opacities they saw on chest x-rays. Certain x-ray findings can be used to help predict the course of illness, although it is not possible to clearly determine the microbiologic cause of a pneumonia with x-rays alone.
With the advent of modern microbiology, classification based upon the causative microorganism became possible. Determining which microorganism is causing an individuals pneumonia is an important step in deciding treatment type and length. Sputum cultures, blood cultures, tests on respiratory secretions, and specific blood tests are used to determine the microbiologic classification. Because such laboratory testing typically takes several days, microbiologic classification is usually not possible at the time of initial diagnosis.
Clinical
Traditionally, clinicians have classified pneumonia by clinical characteristics, dividing them into "acute" (less than three weeks duration) and "chronic" pneumonias. This is useful because chronic pneumonias tend to be either non-infectious, or mycobacterial, fungal, or mixed bacterial infections caused by airway obstruction. Acute pneumonias are further divided into the classic bacterial bronchopneumonias (such as Streptococcus pneumoniae), the atypical pneumonias (such as the interstitial pneumonitis of Mycoplasma pneumoniae or Chlamydia pneumoniae), and the aspiration pneumonia syndromes.Chronic pneumonias, on the other hand, mainly include those of Nocardia, Actinomyces and Blastomyces dermatitidis, as well as the granulomatous pneumonias (Mycobacterium tuberculosis and atypical mycobacteria, Histoplasma capsulatum and Coccidioides immitis).The combined clinical classification, now the most commonly used classification scheme, attempts to identify a persons risk factors when he or she first comes to medical attention. The advantage of this classification scheme over previous systems is that it can help guide the selection of appropriate initial treatments even before the microbiologic cause of the pneumonia is known. There are two broad categories of pneumonia in this scheme: community-acquired pneumonia and hospital-acquired pneumonia. A recently introduced type of healthcare-associated pneumonia (in patients living outside the hospital who have recently been in close contact with the health care system) lies between these two categories.
References
== External links == |
Delayed hemolytic transfusion reaction | A delayed hemolytic transfusion reaction (DHTR) is a type of transfusion reaction. According to the Centers for Disease Controls (CDC) National Healthcare Safety Networks (NHSN) Hemovigilance Module, it is defined as:
Mechanism
If a person without a Kidd blood antigen (for example a Jka-Jkb+ patient) receives a Kidd antigen (Jka-antigen for example) in a red blood cell transfusion and forms an alloantibody (anti-Jka); upon subsequent transfusion with Jka-antigen positive red blood cells, the patient may have a delayed hemolytic transfusion reaction as their anti-Jka antibody hemolyzes the transfused Jka-antigen positive red blood cells. Other common blood groups with this reaction are Duffy, Rhesus and Kell.
Diagnosis
Positive direct antiglobulin test (DAT) for antibodies developed between 24 hours and 28 days after cessation of transfusion
Positive elution test with alloantibodies present on the transfused red blood cells OR newly identified red blood cell alloantibodies in recipient serum.Antibody elution is the process of removing antibodies from the surface of red blood cells. Techniques include using heat, ultrasound, acids or organic solvents. No single method is best in all situations. In an elution test, the eluted antibodies are subsequently tested against a panel of reagent red blood cells of known phenotype.
Inadequate rise of post-transfusion hemoglobin level OR rapid fall in hemoglobin level back to pre-transfusion levels OR otherwise unexplained appearance of spherocytes.PROBABLE DIAGNOSIS
Newly identified red blood cell alloantibody demonstrated between 24 hours and 28 days after cessation of transfusion BUT incomplete laboratory evidence to meet definitive case definition criteria.
Epidemiology
Delayed blood transfusion reaction occurs more frequently (1 in 20,569 blood components transfused in the USA in 2011) when compared to acute haemolytic transfusion reaction.
== References == |
Hyperoxia | Hyperoxia occurs when cells, tissues and organs are exposed to an excess supply of oxygen (O2) or higher than normal partial pressure of oxygen.In medicine, it refers to excess oxygen in the lungs or other body tissues, which can be caused by breathing air or oxygen at pressures greater than normal atmospheric pressure. This kind of hyperoxia can lead to oxygen toxicity, caused from the harmful effects of breathing molecular oxygen at elevated partial pressures. Hyperoxia is the opposite of hypoxia; hyperoxia refers to a state in which oxygen supply is excessive, and hypoxia refers to a state in which oxygen supply is insufficient.
In the environment, it refers to excess oxygen in a body of water or other habitat.
Signs and symptoms
Associated with hyperoxia is an increased level of reactive oxygen species (ROS), which are chemically reactive molecules containing oxygen. These oxygen containing molecules can damage lipids, proteins, and nucleic acids, and react with surrounding biological tissues. The human body has naturally occurring antioxidants to combat reactive molecules, but the protective antioxidant defenses can become depleted by abundant reactive oxygen species, resulting in oxidation of the tissues and organs.The symptoms produced from breathing high concentrations of oxygen for extended periods have been studied in a variety of animals, such as frogs, turtles, pigeons, mice, rats, guinea pigs, cats, dogs and monkeys. The majority of these studies reported the occurrence of irritation, congestion and edema of the lungs, and even death following prolonged exposures.
Oxygen toxicity
The supplementation of oxygen can lead to oxygen toxicity, also known as oxygen toxicity syndrome, oxygen intoxication, and oxygen poisoning. There are two main types of oxygen toxicity: central nervous system (CNS) toxicity, and pulmonary and ocular toxicity.Temporary exposure to high partial pressures of oxygen at greater than atmospheric pressure can lead to central nervous system toxicity (CNS). An early but serious sign of CNS oxygen toxicity is a grand-mal seizure, also known as a generalized tonic-clonic seizure. This type of seizure consists of a loss of consciousness and violent muscle contractions. Signs and symptoms of oxygen toxicity are usually prevalent, but there are no standard warning signs that a seizure is about to ensue. The convulsion caused by oxygen toxicity does not lead to hypoxia, a side effect common to most seizures, because the body has an excess amount of oxygen when the convulsion begins. The seizures can lead to drowning, however, if the convulsion is suffered by a diver still in the water.Prolonged exposure to higher oxygen levels at atmospheric pressure can lead to pulmonary and ocular toxicity. Symptoms of oxygen toxicity may include disorientation, respiratory problems, myopia, or accelerated development of cataracts. Prolonged exposure to higher than normal partial pressures of oxygen can result in oxidative damage to cell membranes. Signs of pulmonary (lung) oxygen toxicity begin with slight irritation in the trachea. A mild cough usually ensues, followed by greater irritation and a worse cough until breathing becomes quite painful and the cough becomes uncontrollable. If supplementation of oxygen is continued, the individual will notice tightness in the chest, difficulty breathing, shortness of breath, and if exposure is continued, fatality due to lack of oxygen.
Cause
Oxygen supplied at greater than atmospheric pressure has been known to damage plants, animals, and aerobic bacteria such as Escherichia coli. The damaging effects vary depending on the specimen used, its age, physiological state, and diet.The supplementation of oxygen has been a common procedure of prehospital treatment for many years. Guidelines include cautions about chronic obstructive pulmonary disease (COPD). These guidelines stress the use of 28% oxygen masks and caution the dangers of hyperoxia. Long-term use of supplemental oxygen improves survival in patients with COPD, but can lead to lung injury.An additional cause of hyperoxia is related to underwater diving with breathing apparatus. Underwater divers breath a mixture of gasses which must include oxygen, and the partial pressure of any given gas mixture will increase with depth. A mixture known as nitrox is used to reduce the risk of decompression sickness by substituting oxygen for part of the nitrogen content. Breathing nitrox can lead to hyperoxia due to the high partial pressure of oxygen if used too deep or for too long. Protocols for the safe use of raised oxygen partial pressure in diving are well established and used routinely by recreational scuba divers, military combat divers and professional saturation divers alike. The highest risk of hyperoxia is in hyperbaric oxygen therapy, where it is a high probability side effect of the treatment for more serious conditions, and is considered an acceptable risk as it can be managed effectively without apparent long term effects.
Diagnosis
Treatment
Oxygen supplementation is used to treat tissue hypoxia and to relieve arterial hypoxemia. High concentrations of oxygen are often given to patients with chronic obstructive pulmonary disease (COPD) or acute lung injury (ALI). Supplementing oxygen is known to cause tissue damage, with toxicity increasing with the increase of oxygen concentrations and exposure pressures. Unfortunately, the supplementation of oxygen is necessary if an individual is not able to obtain sufficient oxygen through respiration and perfusion. To decrease the chances of hyperoxia, the therapist should use the lowest concentration of oxygen required by an individual. At this time, there are no known alternatives to oxygen supplementation.
See also
Hypoxia – Medical condition caused by lack of oxygen in the tissues
Hypoxemia – Abnormally low level of oxygen in the blood
Oxygen toxicity – Toxic effects of breathing in oxygen at high concentrations
Hyperbaric medicine – Medical treatment at raised ambient pressure
== References == |
Ankylosis | Ankylosis is a stiffness of a joint due to abnormal adhesion and rigidity of the bones of the joint, which may be the result of injury or disease. The rigidity may be complete or partial and may be due to inflammation of the tendinous or muscular structures outside the joint or of the tissues of the joint itself.When the structures outside the joint are affected, the term "false ankylosis" has been used in contradistinction to "true ankylosis", in which the disease is within the joint. When inflammation has caused the joint-ends of the bones to be fused together, the ankylosis is termed osseous or complete and is an instance of synostosis. Excision of a completely ankylosed shoulder or elbow may restore free mobility and usefulness to the limb. "Ankylosis" is also used as an anatomical term, bones being said to ankylose (or anchylose) when, from being originally distinct, they coalesce, or become so joined that no motion can take place between them.The term is from Greek ἀγκύλος, bent, crooked.
Causes
Ankylosing spondylitis is a type of arthritis in which there is long-term inflammation of the joints of the spine.
Other forms of arthritis may sometimes also lead to ankylosis, including rheumatoid arthritis and reactive arthritis
Osteoarthritis usually confers osteophyte formation, which may eventually fuse across joints. Osteoarthritis is believed to be caused by mechanical stress on the joint and low-grade inflammatory processes.
Arthrodesis is the intentional creation of ankylosis in a joint.
Noma—a gangrenous disease still widespread among malnourished children living on the borders of the Sahara desert—can cause ankylosis of the maxilla and mandible, impairing the ability to speak and eat.
Fibrodysplasia Ossificans Progressiva is a rare bone disease in which muscle, tendons and ligaments turn to bone. This leads to progressive ankylosis of almost all joints.
Society and culture
In 2014, Liliana Cernecca, a six-year-old girl at the time, was only able to open her mouth a couple millimeters after one of her jaw joints fused. She underwent surgery to correct her jaw ankylosis during which her jaw was operated on and unlocked.
Fossil record
Evidence for ankylosis found in the fossil record is studied by paleopathologists, specialists in ancient disease and injury. Ankylosis has been reported in dinosaur fossils from several species, including Allosaurus fragilis, Becklespinax altispinax, Poekilopleuron bucklandii, and Tyrannosaurus rex (including the Stan specimen).
References
== External links == |
Postpartum blues | Postpartum blues, also known as baby blues and maternity blues, is a very common but self-limited condition that begins shortly after childbirth and can present with a variety of symptoms such as mood swings, irritability, and tearfulness. Mothers may experience negative mood symptoms mixed with intense periods of joy. Up to 85% of new mothers are affected by postpartum blues, with symptoms starting within a few days after childbirth and lasting up to two weeks in duration. Treatment is supportive, including ensuring adequate sleep and emotional support. If symptoms are severe enough to affect daily functioning or last longer than two weeks, the individual should be evaluated for related postpartum psychiatric conditions, such as postpartum depression and postpartum anxiety. It is unclear whether the condition can be prevented, however education and reassurance are important to help alleviate patient distress.
Signs and symptoms
Symptoms of postpartum blues can vary significantly from one individual to another, and from one pregnancy to the next. Many symptoms of postpartum blues overlap both with normal symptoms experienced by new parents and with postpartum depression. Individuals with postpartum blues have symptoms that are milder and less disruptive to their daily functioning compared to those with postpartum depression. Symptoms of postpartum blues include, but are not limited to:
Tearfulness or crying "for no reason"
Mood swings
Irritability
Anxiety
Questioning ones ability to care for the baby
Difficulty making choices
Loss of appetite
Fatigue
Difficulty sleeping
Difficulty concentrating
Negative mood symptoms interspersed with positive symptoms
Onset
Symptoms of postpartum blues generally begin within a few days of childbirth and often peak by day four or five.
Duration
Postpartum blues may last a few days up to two weeks. If symptoms last more than two weeks, the individual must be evaluated for postpartum depression.
Causes
The causes of postpartum blues have not been clearly established. Most hypotheses regarding the etiology of postpartum blues and postpartum depression center on the intersection of the significant biological and psychosocial changes that occur with childbirth.
Psychosocial causes
Pregnancy and postpartum are significant life events that increase a womans vulnerability for postpartum blues. Even with a planned pregnancy, it is normal to have feelings of doubt or regret, and it takes time to adjust to having a newborn. Feelings commonly reported by new parents and lifestyle changes that may contribute to developing early postpartum mood symptoms include:
Fatigue after labor and delivery
Caring for a newborn that requires 24/7 attention
Sleep deprivation
Lack of support from family and friends
Marital or relationship strain
Changes in home and work routines
Financial stress
Unrealistic expectations of self
Societal or cultural pressure to "bounce back" quickly after pregnancy and childbirth
Overwhelmed and questioning ability to care for baby
Anger, loss, or guilt, especially for parents of premature or sick infants
Risk factors
Most risk factors studied have not clearly and consistently demonstrated an association with postpartum blues. These include sociodemographic factors, such as age and marital status, obstetric factors, such as delivery complications or low birth weight.Factors most consistently shown to be predictive of postpartum blues are personal and family history of depression. This is of particular interest given of the bidirectional relationship between postpartum blues and postpartum depression: a history of postpartum depression appears to be a risk factor for developing postpartum blues, and postpartum blues confers a higher risk of developing subsequent postpartum depression.
Pathophysiology
Estrogen and progesterone
After delivery of the placenta, mothers experience an abrupt decline of gonadal hormones, namely estrogen and progesterone. Major hormonal changes in the early postpartum period may trigger mood symptoms similarly to how more minor hormonal shifts cause mood swings prior to menstrual periods.Studies have not detected a consistent association between hormone concentrations and development of postpartum mood disorders. Some investigators believe the discrepant results may be due to variations in sensitivity to hormonal shifts across different subgroups of women. Therefore, development of mood symptoms may be related to a womans sensitivity, based on genetic predisposition and psychosocial stressors, to changes in hormones rather than absolute hormonal levels.
Other
The association between postpartum blues and a variety of other biological factors, including cortisol and the HPA axis, tryptophan, prolactin, thyroid hormone, and others have been assessed over the years with inconclusive results.Emerging research has suggested a potential association between the gut microbiome and perinatal mood and anxiety disorders.
Diagnosis
Classification
The proper diagnostic classification of postpartum blues has not been clearly established. Postpartum blues has long been considered to be the mildest condition on the spectrum of postpartum psychiatric disorders, which includes postpartum depression and postpartum psychosis. However, there exists some discussion in the literature of the possibility that postpartum blues may be an independent condition.
Criteria
There are no standardized criteria for the diagnosis of postpartum blues. Unlike postpartum depression, postpartum blues is not a diagnosis included in the Diagnostic and Statistical Manual of Mental Disorders.
Investigators have employed a variety of diagnostic tools in prospective and retrospective studies of postpartum blues, including repurposing screening tools, such as the Edinburgh Postnatal Depression Scale (EPDS) and Beck Depression Index (BDI), as well as developing blues-specific scales. Examples of blues-specific scales include the Maternity Blues Questionnaire and the Stein Scale.
Differential diagnosis:-
Although symptoms of postpartum blues present in a majority of mothers and the condition is self-limited, it is important to keep related psychiatric conditions in mind as they all have overlap in presentation and similar period of onset.
Postpartum anxiety
Symptoms of anxiety and irritability are often predominant in the presentation of postpartum blues. However, compared to postpartum anxiety, symptoms of postpartum blues are less severe, resolve on their own, and last fewer than two weeks.
Postpartum depression
Postpartum depression and postpartum blues may be indistinguishable when symptoms first begin. However, symptoms of postpartum blues are less severe, resolve on their own, and last fewer than two weeks. Mothers who experience severe postpartum blues appear to be at increased risk of developing depression.
Postpartum psychosis
Although both conditions can cause periods of high and low moods, the mood swings in postpartum psychosis are significantly more severe and may include mania, hallucinations, and delusions. Postpartum psychosis is a rare condition, affecting 1-2 per 1000 women. Postpartum psychosis is classified as a psychiatric emergency and requires hospital admission.Additionally, a variety of medical co-morbidities can mimic or worsen psychiatric symptoms.
Prevention
Screening
There are no specific screening recommendations for postpartum blues. Nonetheless, a variety of professional organizations recommend routine screening for depression and/or assessment of emotional well-being during pregnancy and postpartum. Universal screening provides an opportunity to identify women with sub-clinical psychiatric conditions during this period and those at higher risk of developing more severe symptoms. Specific recommendations are listed below:
American College of Obstetrics and Gynecology (ACOG): In 2018, ACOG recommended universal screening for depression and anxiety using a validated tool at least once during pregnancy or postpartum, in addition to a full assessment of mood and well-being at the postpartum visit. This is in addition to existing recommendations for annual depression screening in all women.
American Academy of Pediatrics (AAP): In 2017, the AAP recommended universal screening of mothers for postpartum depression at the 1-, 2-, 4-, and 6-month well child visits.
United States Preventative Services Task Force (USPSTF): In 2016, the USPSTF recommended depression screening in the general adult population, including pregnant and postpartum women. Their recommendations did not include guidelines for frequency of screening.
Primary prevention
Given the mixed evidence regarding causes of postpartum blues, it is unclear whether prevention strategies would be effective in decreasing the risk of developing this condition. However, educating women during pregnancy about postpartum blues may help to prepare them for these symptoms that are often unexpected and concerning in the setting of excitement and anticipation of a new baby. Mothers who develop postpartum blues often have significant shame or guilt for feelings of anxiety or depression during a time is expected to be joyful. It is important to reassure new parents that low mood symptoms after childbirth are common and transient. Obstetric providers may recommend that patients and their families prepare ahead of time to ensure the mother will have adequate support and rest after the delivery. Additionally, they should provide education and resources to family and friends about red flags of more severe perinatal psychiatric conditions that may develop, such as postpartum depression and postpartum psychosis.
Treatment
Postpartum blues is a self-limited condition. Signs and symptoms are expected to resolve within two weeks of onset without any treatment. Nevertheless, there are a number of recommendations to help relieve symptoms, including:
Getting enough sleep
Taking time to relax and do activities that you enjoy
Asking for help from family and friends
Reaching out to other new parents
Avoiding alcohol and other drugs that may worsen mood symptoms
Reassurance that symptoms are very common and will resolve on their ownIf symptoms do not resolve within two weeks or if they interfere with functioning, individuals are encouraged to contact their healthcare provider. Early diagnosis and treatment of more severe postpartum psychiatric conditions, such as postpartum depression, postpartum anxiety, and postpartum psychosis, are critical for improved outcomes in both the parent and child.
Prognosis
Most mothers who develop postpartum blues experience complete resolution of symptoms by two weeks. However, a number of prospective studies have identified more severe postpartum blues as an independent risk factor for developing subsequent postpartum depression. More research is necessary to fully elucidate the association between postpartum blues and postpartum depression.
Epidemiology
Postpartum blues is a very common condition, affecting around 50-80% of new mothers based on most sources. However, estimates of prevalence vary greatly in the literature, from 26 to 85%, depending on the criteria used. Precise rates are difficult to obtain given lack of standardized diagnostic criteria, inconsistency of presentation to medical care, and methodological limitations of retrospective reporting of symptoms.
Evidence demonstrates that postpartum blues exists across a variety of countries and cultures, however there is considerable heterogeneity in reported prevalence rates. For instance, reports of prevalence of postpartum blues in the literature vary from 15% in Japan to 60% in Iran. Underreporting of symptoms due to cultural norms and expectations may be one explanation for this heterogeneity.
Males
Literature is lacking on whether new fathers also experience postpartum blues. However, given similar causes of postpartum blues and postpartum depression in women, it may be relevant to examine rates of postpartum depression in men.
A 2010 meta-analysis published in JAMA with over 28,000 participants across various countries showed that prenatal and postpartum depression affects about 10% of men. This analysis was updated by an independent research team in 2016, who found the prevalence to be 8.4% in over 40,000 participants. Both were significantly higher than previously reported rates of 3-4% from two large cohort studies in the United Kingdom, which may reflect heterogeneity across countries. Both meta-analyses found higher rates in the United States (12.8-14.1%) compared to studies conducted internationally (7.1-8.2%). Furthermore, there was a moderate positive correlation between paternal and maternal depression (r = 0.308; 95% CI, 0.228-0.384).
== References == |
Chalazion | A chalazion (; plural chalazia or chalazions) or meibomian cyst is a cyst in the eyelid usually due to a blocked meibomian gland, typically in the middle of the eyelid, red, and not painful. They tend to come on gradually over a few weeks.A chalazion may occur following a stye or from hardened oils blocking the gland. The blocked gland is usually the meibomian gland, but can also be the gland of Zeis.A stye and cellulitis may appear similar. A stye, however, is usually more sudden in onset, painful, and occurs at the edge of the eyelid. Cellulitis is also typically painful.Treatment is initiated with warm compresses. In addition, antibiotic/corticosteroid eyedrops or ointment may be used. If this is not effective, injecting corticosteroids into the lesion may be tried. If large, incision and drainage may be recommended. While relatively common, the frequency of the condition is unknown. It is most common in people 30–50 years of age, and equally common in males and females. The term is from the Greek khalazion (χαλάζιον) meaning "small hailstone".
Signs and symptoms
Painless swelling on the eyelid
Eyelid tenderness typically none-to-mild
Increased tearing
Heaviness of the eyelid
Redness of conjunctiva
Complications
A large chalazion can cause astigmatism due to pressure on the cornea.As laser eye surgery involves shaping the cornea by burning parts of it away, weakening its structure, post-operation people can be left predisposed to deformation of the cornea from small chalazia.Complications of corticosteroid injection include hypopigmentation and fat atrophy which is less likely to occur in conjunctival approach of injection.A chalazion that reoccurs in the same area may rarely be a symptom of sebaceous carcinoma.
Diagnosis
A chalazion or meibomian cyst can sometimes be mistaken for a stye.
Differential diagnosis
Sebaceous gland adenoma
Sebaceous gland carcinoma
Sarcoid granuloma
Foreign body granuloma
Treatment
General treatment
Chalazia will often disappear without further treatment within a few months, and virtually all will resorb within two years.Healing can be facilitated by applying a moist warm compress to the affected eye for approximately 10–15 minutes, 4 times per day. This promotes opening, drainage, and healing by softening the hardened oil that is occluding the duct. In addition, it is helpful to scrub the lid margin (at the base of the eyelashes) with a washcloth and mild (baby) shampoo, which removes oily debris.Topical antibiotic eye drops or ointment (e.g., chloramphenicol or fusidic acid) are sometimes used for the initial acute infection, but are otherwise of little value in treating a chalazion.If they continue to enlarge or fail to settle within a few months, smaller lesions can be injected with a corticosteroid.
Larger ones can be surgically removed using local anesthesia. This is usually done from underneath the eyelid to avoid a scar on the skin. If the chalazion is located directly under the eyelids outer tissue, however, an excision from above may be more advisable so as not to inflict any unnecessary damage on the lid itself. Eyelid epidermis usually mends well, without leaving any visible scar. Depending on the chalazions texture, the excision procedure varies: while fluid matter can easily be removed under minimal invasion, by merely puncturing the chalazion and exerting pressure upon the surrounding tissue, hardened matter usually necessitates a larger incision, through which it can be scraped out. Any residual matter should be metabolized in the course of the subsequent healing process, generally aided by regular appliance of dry heat. The excision of larger chalazia may result in visible hematoma around the lid, which will wear off within three or four days, whereas the swelling may persist for longer. Chalazion excision is an ambulant treatment and normally does not take longer than fifteen minutes. Nevertheless, owing to the risks of infection and severe damage to the eyelid, such procedures should only be performed by a medical professional.
Chalazia may recur, and they will usually be biopsied to rule out the possibility of a tumour.
Antibiotic/corticosteroid eyedrops or ointment
A limited course of topical antibiotic/corticosteroid combination eyedrops or ointment such as tobramycin/dexamethasone may be effective in treating a chalazion.
Surgery
Chalazion surgery is a simple procedure that is generally performed as a day operation, and the person does not need to remain in the hospital for further medical care. The eyelid is injected with a local anesthetic, a clamp is put on the eyelid, then the eyelid is turned over, an incision is made on the inside of the eyelid, and the chalazion is drained and scraped out with a curette. A scar on the upper lid can cause discomfort as some people feel the scar as they blink. As surgery damages healthy tissue (e.g., by scarring tissue or possibly even causing blepharitis), given other options, less invasive treatment is preferable.Chalazion removal surgery is performed under local or general anesthesia. Commonly, general anesthesia is administered in children to make sure they stay still and no injury to the eye occurs. Local anesthesia is used in adults and it is applied with a small injection into the eyelid. The discomfort of the injection is minimized with the help of an anesthetic cream, which is applied locally.
The chalazion can be removed in two ways, depending on the size of cyst. Relatively small chalazia are removed through a small cut at the back of the eyelid. The surgeon lifts the eyelid to access the back of its surface and makes an incision of approximately 3mm just on top of the chalazion. The lump is then removed, and pressure is applied for a few minutes to stop any oozing of blood that may occur because of the operation. Surgery of small chalazia does not require stitches, as the cut is at the back of the eyelid and therefore the cut cannot be seen, and the cosmetic result is excellent.
Larger chalazia are removed through an incision in front of the eyelid. Larger chalazia usually push on the skin of the eyelid, and this is the main reason why doctors prefer removing them this way. The incision is not usually larger than 3mm and it is made on top of the chalazion. The lump is removed and then pressure is applied to the incision to prevent oozing. This type of surgery is closed with very fine stitches. They are hardly visible and are usually removed within a week after the surgery has been performed. Although chalazia are rarely dangerous, it is common to send the chalazion or part of it to a laboratory to screen for cancer.When surgery for a chalazion is considered, people who take aspirin or any other blood-thinning medications are advised to stop taking them one week prior to the procedure as they may lead to uncontrollable bleeding.In rare cases, people are kept overnight in the hospital after chalazion surgery. This includes cases in which complications occurred and the person needs to be closely monitored. In most cases, however, people are able to go home after the operation has ended.
The recovery process is easy and quite fast. Most people with chalazion experience some very minor discomfort in the eye, which can be easily controlled by taking painkilling medication. People are, however, recommended to avoid getting water in the eye for up to 10 days after surgery. They may wash, bathe, or shower, but they must be careful to keep the area dry and clean. Makeup may be worn after at least one month post-operatively. People are recommended to not wear contact lenses in the affected eye for at least eight weeks to prevent infections and potential complications.Commonly, people receive eye drops to prevent infection and swelling in the eye and pain medication to help them cope with the pain and discomfort in the eyelid and eye. One can use paracetamol (acetominophen) rather than aspirin to control the pain. Also, after surgery, a pad and protective plastic shield are used to apply pressure on the eye in order to prevent leakage of blood after the operation; this may be removed 6 to 8 hours after the procedure.People who undergo chalazion surgery are normally asked to visit their eye surgeon for post-op follow-up three to four weeks after surgery has been performed.Chalazion surgery is a safe procedure and complications seldom occur. Serious complications that require another operation are also very rare. Among potential complications, there are infection, bleeding, or the recurrence of the chalazion.
Steroid injection
Because the inflammatory cells of chalazia are sensitive to steroids, intralesional or subcutaneous injection of soluble steroids, commonly 0.1 to 0.2 ml of triamcinolone acetonide (TA) into the lesions center one or two times, is one option. The success rate is in the 77% to 93% range. It carries a quite small risk of central retinal artery obstruction, focal depigmentation in dark-skinned patients, and inadvertent ocular penetration. It is considered a simple and effective treatment option, one with high success rates. It may give the same results as surgical treatment (I&C). Larger, long-standing lesions are best treated surgically. Considering the surgical risks, steroid injection is believed to be a safer procedure in marginal lesions and lesions close to lacrimal punctum.One injection alone has a success rate of about 80%; if requested, a second injection can be given 1–2 weeks later.
Carbon dioxide laser
Chalazion excision using a CO2 laser is also a safer procedure, with minimal bleeding and no eye patching required.
See also
Stye
References
External links
Media related to Chalazion at Wikimedia Commons |
Plasmacytoma | Plasmacytoma is a plasma cell dyscrasia in which a plasma cell tumour grows within soft tissue or within the axial skeleton.
The International Myeloma Working Group lists three types: solitary plasmacytoma of bone (SPB); extramedullary plasmacytoma (EP), and multiple plasmacytomas that are either primary or recurrent. The most common of these is SPB, accounting for 3–5% of all plasma cell malignancies. SPBs occur as lytic lesions within the axial skeleton and extramedullary plasmacytomas most often occur in the upper respiratory tract (85%), but can occur in any soft tissue. Approximately half of all cases produce paraproteinemia. SPBs and extramedullary plasmacytomas are mostly treated with radiotherapy, but surgery is used in some cases of extramedullary plasmacytoma. The skeletal forms frequently progress to multiple myeloma over the course of 2–4 years.Due to their cellular similarity, plasmacytomas have to be differentiated from multiple myeloma. For SPB and extramedullary plasmacytoma the distinction is the presence of only one lesion (either in bone or soft tissue), normal bone marrow (<5% plasma cells), normal skeletal survey, absent or low paraprotein and no end organ damage.
Signs and symptoms
For SPB the most common presenting symptom is that of pain in the affected bone. Back pain and other consequences of the bone lesion may occur such as spinal cord compression or pathological fracture. Around 85% of extramedullary plasmacytoma presents within the upper respiratory tract mucosa, causing possible symptoms such as epistaxis, rhinorrhoea and nasal obstruction. In some tissues it may be found as a palpable mass.
Diagnosis
The diagnosis of plasmacytoma uses a diverse range of interdisciplinary techniques including serum protein electrophoresis, bone marrow biopsy, urine analysis for Bence Jones protein and complete blood count, plain film radiography, MRI and PET-CT.Serum protein electrophoresis separates the proteins in the liquid part of the blood (serum), allowing the analysis of antibodies. Normal blood serum contains a range of antibodies and are said to be polyclonal, whereas serum from a person with plasmacytoma may show a monoclonal spike. This is due to an outgrowth of a single type of plasma cell that forms the plasmacytoma and produces a single type of antibody. The plasma cells are said to be monoclonal and the excessively produced antibody is known as monoclonal protein or paraprotein. Paraproteins are present in 60% of SPB and less than 25% of extramedullary plasmacytoma.Bone marrow biopsies are performed to ensure the disease is localised; and in SPB or extramedullary plasmacytoma there will not be an increase of monoclonal plasma cells. Tissue biopsies of SPB and extramedullary plasmacytoma are used to assess the phenotype of the plasma cells. Histological analyses can be performed on these biopsies to see what cluster of differentiation (CD) markers are present and to assess monoclonality of the cells. CD markers can aid in the distinction of extramedullary plasmacytoma from lymphomas.Skeletal surveys are used to ensure there are no other primary tumors within the axial skeleton. MRI can be used to assess tumor status and may be advantageous in detecting primary tumors that are not detected by plain film radiography. PET-CT may also be beneficial in detecting extramedullary tumours in individuals diagnosed with SPB. CT imaging may be better than plain film radiography for assessing bone damage.An important distinction to be made is that a true plasmacytoma is present and not a systemic plasma cell disorder, such as multiple myeloma. The difference between plasmacytoma and multiple myeloma is that plasmacytoma lacks increased blood calcium, decreased kidney function, too few red blood cells in the bloodstream, and multiple bone lesions (collectively termed CRAB).
Classification
Plasmacytoma is a tumor of plasma cells. The cells are identical to those seen in multiple myeloma, but they form discrete masses of cells in the skeleton (solitary plasmacytoma of bone; SPB) or in soft tissues (extramedullary plasmacytoma; EP). They do not present with systemic disease, which would classify them as another systemic plasma cell disorder.The International Myeloma Working Group (IMWG) has published criteria for the diagnosis of plasmacytomas. They recognise three distinct entities: SPB, extramedullary plasmacytoma and multiple solitary plasmacytomas (+/- recurrent). The proposed criteria for SPB is the presence of a single bone lesion, normal bone marrow (less than 5% plasma cells), small or no paraprotein, no related organ involvement/damage and a normal skeletal survey (other than the single bone lesion). The criteria for extramedullary plasmacytoma are the same but the tumor is located in soft tissue. No bone lesions should be present. Criteria for multiple solitary plasmacytomas (+/- recurrent) are the same except either multiple solitary bone or soft tissue lesions must be present. They may occur as multiple primary tumors or as a recurrence from a previous plasmacytoma.
Association with the Epstein–Barr virus
Rarely, the Epstein–Barr virus (EBV) is associated with multiple myeloma and plasmacytomas, particularly in individuals who have an immunodeficiency due to e.g. HIV/AIDS, organ transplantation, or a chronic inflammatory condition such as rheumatoid arthritis. EBV-positive multiple myeloma and plasmacytoma are classified together by the World Health Organization (2016) as Epstein–Barr virus-associated lymphoproliferative diseases and termed Epstein–Barr virus-associated plasma cell myeloma. EBV-positivity is more common in plasmacytoma than multiple myeloma. The tissues involved in EBV+ plasmacytoma typically show foci of EBV+ cells with the appearance of rapidly proliferating immature or poorly differentiated plasma cells. These cells express products of EBV genes such as EBER1 and EBER2. EBV-positive plasmacytoma(s) is more likely to progress to multiple myeloma than EBV-negative plasmacytoma(s) suggesting that the virus may play a role in the progression of plasmacytoma to multiple myeloma.
Treatment
Radiotherapy is the main choice of treatment for both SPB and extramedullary plasmacytoma, and local control rates of >80% can be achieved. This form of treatment can be used with curative intent because plasmacytoma is a radiosensitive tumor. Surgery is an option for extramedullary plasmacytoma, but for cosmetic reasons it is generally used when the lesion is not present within the head and neck region. Another option is the possible combination of radiotherapy with anti-multiple myeloma treatment. In a study that included 68 patients, a group of 8 patients who were treated with radio- and chemotherapy (with or without surgery) were less likey to have a relapse of plasmacytoma, progress to multiple myeloma, or die compared with patients who were treated with radiotherapy and/or surgery alone [progression free survival (PFS), overall median: not reached vs. 48.0 months; respectively]. Concerning that study, a large prospective trial is needed to evaluate the impact of adding systemic anti-myeloma treatment to local radiotherapy.
Prognosis
Most cases of SPB progress to multiple myeloma within 2–4 years of diagnosis, but the overall median survival for SPB is 7–12 years. 30–50% of extramedullary plasmacytoma cases progress to multiple myeloma with a median time of 1.5–2.5 years. 15–45% of SPB and 50–65% of extramedullary plasmacytoma are disease free after 10 years.
Epidemiology
Plasmacytomas are a rare form of cancer. SPB is the most common form of the disease and accounts for 3-5% of all plasma cell malignancies. The median age at diagnosis for all plasmacytomas is 55. Both SPB and extramedullary plasmacytoma are more prevalent in males; with a 2:1 male to female ratio for SPB and a 3:1 ratio for extramedullary plasmacytoma.
Terminology
There can be some ambiguity when using the word. "Plasmacytoma" is sometimes equated with "plasma cell dyscrasia" or "solitary myeloma". It is often used as part of the phrase "solitary plasmacytoma". or as part of the phrase "extramedullary plasmacytoma". In this context, "extramedullary" means outside of the bone marrow.
See also
Plasma cell dyscrasia
Multiple myeloma
Monoclonal gammopathy of undetermined significance (MGUS)
Waldenströms macroglobulinemia
Cutaneous B-cell lymphoma
References
External links
Overview at National Cancer Institute |
Angiodysplasia | In medicine (gastroenterology), angiodysplasia is a small vascular malformation of the gut. It is a common cause of otherwise unexplained gastrointestinal bleeding and anemia. Lesions are often multiple, and frequently involve the cecum or ascending colon, although they can occur at other places. Treatment may be with colonoscopic interventions, angiography and embolization, medication, or occasionally surgery.
Signs and symptoms
Although some cases present with black, tarry stool (melena), the blood loss can be subtle, with the anemia symptoms predominating.
Pathophysiology
Histologically, it resembles telangiectasia and development is related to age and strain on the bowel wall. It is a degenerative lesion, acquired, probably resulting from chronic and intermittent contraction of the colon that is obstructing the venous drainage of the mucosa. As time goes by the veins become more and more tortuous, while the capillaries of the mucosa gradually dilate and precapillary sphincter becomes incompetent. Thus is formed an arteriovenous malformation characterized by a small tuft of dilated vessels.Although angiodysplasia is probably quite common, the risk of bleeding is increased in disorders of coagulation. A classic association is Heydes syndrome (coincidence of aortic valve stenosis and bleeding from angiodysplasia).
In this disorder, von Willebrand factor (vWF) is proteolysed due to high shear stress in the highly turbulent blood flow around the aortic valve. vWF is most active in vascular beds with high shear stress, including angiodysplasias, and deficiency of vWF increases the bleeding risk from such lesions.Warkentin et al. argue that apart from aortic valve stenosis, some other conditions that feature high shear stress might also increase the risk of bleeding from angiodysplasia.
Diagnosis
Fecal occult blood testing is positive when bleeding is active. If bleeding is intermittent the test may be negative at times.Diagnosis of angiodysplasia is often accomplished with endoscopy, either colonoscopy or esophagogastroduodenoscopy (EGD). Although the lesions can be notoriously hard to find, the patient usually is diagnosed by endoscopy. A new technique, pill enteroscopy, has been a major advance in diagnosis, especially in the small bowel which is difficult to reach with traditional endoscopy. With this technique a pill that contains a video camera and radio transmitter is swallowed, and pictures of the small intestine are sent to a receiver worn by the patient. Recently, multiphase CT angiography (without positive oral contrast) has been shown to play a promising role in the diagnoses of small and large bowel angiodysplasia, especially when associated with active hemorrhage.Angiodysplasiae in the small bowel can also be diagnosed and treated with double-balloon enteroscopy, a technique involving a long endoscopic camera and overtube, both fitted with balloons, that allow the bowel to be accordioned over the camera.In cases with negative endoscopic findings and high clinical suspicion, selective angiography of the mesenteric arteries is sometimes necessary, but this allows for interventions at time of the procedure. An alternative is scintigraphy with red blood cells labeled with a radioactive marker; this shows the site of the bleeding on a gamma camera but tends to be unhelpful unless the bleeding is continuous and significant.
Treatment
If the anemia is severe, blood transfusion is required before any other intervention is considered. Endoscopic treatment is an initial possibility, where cautery or argon plasma coagulation (APC) treatment is applied through the endoscope. Failing this, angiography and embolization with particles is another microinvasive treatment option, which avoids the need for surgery and bowel resection. Here, the vessel supplying the angiodysplasia is selectively catheterized and embolized with microparticles. Resection of the affected part of the bowel may be needed if the other modalities fail. However, the lesions may be widespread, making such treatment impractical.If the bleeding is from multiple or inaccessible sites, systemic therapy with medication may be necessary. First-line options include the antifibrinolytics tranexamic acid or aminocaproic acid. Estrogens can be used to stop bleeding from angiodysplasia. Estrogens cause mild hypercoagulability of the blood. Estrogen side effects can be dangerous and unpleasant in both sexes. Changes in voice and breast swelling is bothersome in men, but older women often report improvement of libido and perimenopausal symptoms. (The worries about hormone replacement therapy/HRT, however, apply here as well.)In difficult cases, there have been positive reports about octreotide and thalidomide.In severe cases or cases not responsive to either endoscopic or medical treatment, surgery may be necessary to arrest the bleeding.
References
== External links == |
Nail disease | A nail disease or onychosis is a disease or deformity of the nail. Although the nail is a structure produced by the skin and is a skin appendage, nail diseases have a distinct classification as they have their own signs and symptoms which may relate to other medical conditions. Some nail conditions that show signs of infection or inflammation may require medical assistance.
Diseases
Onychia is an inflammation of the nail folds (surrounding tissue of the nail plate) of the nail with formation of pus and shedding of the nail. Onychia results from the introduction of microscopic pathogens through small wounds.
Onychocryptosis, commonly known as "ingrown nails" (unguis incarnatus), can affect either the fingers or the toes. In this condition, the nail cuts into one or both sides of the nail bed, resulting in inflammation and possibly infection. The relative rarity of this condition in the fingers suggests that pressure from the ground or shoe against the toe is a prime factor. The movements involved in walking or other physical disturbances can contribute to the problem. Mild onychocryptosis, particularly in the absence of infection, can be treated by trimming and rounding the nail. More advanced cases, which usually include infection, are treated by surgically excising the ingrowing portion of the nail down to its bony origin and thermally or chemically cauterizing the matrix, or root, to prevent recurrence. This surgery is called matrixectomy. The best results are achieved by cauterizing the matrix with phenol. The Vandenbos Procedure is a highly effective method that focuses on excision of excessive nail fold tissue without affecting the healthy nail and nail matrix. The Vandenbos Procedure is showing high success rates in eliminating onychocryptosis without altering the normal nail. Another, much less effective, treatment is excision of the matrix, sometimes called a cold steel procedure.
Onychodystrophy is a deformation of the nails that can result from cancer chemotherapy which includes bleomycin, hydroxyurea, or 5-fluorouracil. It can include discoloration of the nail, or dyschromia.
Onychogryposis, also called "rams-horn nail", is a thickening and increase in curvature of the nail. It is usually the result of injury to the matrix. It may be partially hereditary and can also occur as a result of long-term neglect. It is most commonly seen in the great toe but may be seen in other toes as well as the fingernails. An affected nail has many grooves and ridges, is brownish in color, and grows more quickly on one side than on the other. The thick curved nail is difficult to cut, and often remains untrimmed, exacerbating the problem.
Onycholysis is a loosening of the exposed portion of the nail from the nail bed, usually beginning at the free edge and continuing to the lunula. It is frequently associated with an internal disorder, trauma, infection, nail fungi, allergy to nail enhancement products, or side effects of drugs.
Onychomadesis is the separation and falling off of a nail from the nail bed. Common causes include localized infection, minor injury to the matrix bed, or severe systemic illness. It is sometimes a side effect of chemotherapy or x-ray treatments for cancer. A new nail plate will form once the cause of the disease is removed.
Onychomycosis, also known as tinea unguium, is a contagious infection of the nail caused by the same fungal organisms which cause ringworm of the skin (Trichophyton rubrum or T. mentagrophytes, rarely other trichophyton species or Epidermophyton floccosum ). It can result in discoloration, thickening, chalkiness, or crumbling of the nails and is often treated by powerful oral medications which, rarely, can cause severe side effects including liver failure. Mild onychomycosis sometimes responds to a combination of topical antifungal medication, sometimes applied as special medicinal nail lacquer, and periodic filing of the nail surface. For advanced onychomycosis, especially if more than one nail is infected, systemic medication (pills) is preferred. Home remedies are often used, although their effectiveness is disputed.
Onychophosis is a growth of horny epithelium in the nail.
Onychoptosis is the periodic shedding of one or more nails, in whole or part. This condition may follow certain diseases such as syphilis, or can result from fever, trauma, systemic upsets or adverse reaction to drugs.
Onychorrhexis also known as brittle nails, is brittleness with breakage of fingernails or toenails.
Paronychia is a bacterial or fungal infection where the nail and skin meet.
Koilonychia is when the nail curves upwards (becomes spoon-shaped) due to an iron deficiency. The normal process of change is: brittle nails, straight nails, spoon-shaped nails.
Subungual hematoma occurs when trauma to the nail results in a collection of blood, or hematoma, under the nail. It may result from an acute injury or from repeated minor trauma such as running in undersized shoes. Acute subungual hematomas are quite painful, and are usually treated by releasing the blood by creating a small hole in the nail. Drilling and thermal cautery are common methods for creating the hole. Thermal cautery is not used on acrylic nails because they are flammable.
Onychomatricoma, a tumor of the nail matrix.
Nail pemphigus, an auto-immune disease.
Erythronychia, red bands in the nail from some inflammatory conditions.
Melanonychia, a black, brown or grey discoloration of the nail, with numerous causes.
Nail changes and conditions associated with them
Nail inspection can give hints to the internal condition of the body as well.
Nail disease can be very subtle and should be evaluated by a dermatologist with a focus in this particular area of medicine. A nail technician may be the first to note a subtle change in nail health.
Pliability
Brittleness is associated with iron deficiency, thyroid problems, and impaired kidney function.
Splitting and fraying are associated with psoriasis and deficiencies of folic acid, protein, and Vitamin C.
Unusual thickness is associated with circulation problems.
Shape and texture
Nail clubbing - nails that curve down around the fingertips with nailbeds that bulge is associated with oxygen deprivation and lung, heart, or liver disease.
Koilonychia - spooning, or nails that grow upwards. Associated with iron-deficiency anaemia or vitamin B12 deficiency.
Pitting of the nails is associated with psoriasis.
Beaus lines are horizontal ridges in the nail.
Habit-tic deformity is a condition similar to Beaus Lines caused by long-term skin picking.
Discoloration of entire nail bed
Yellowing of the nail bed is associated with chronic bronchitis, lymphatic problems, diabetes, and liver disorders.
Brown or copper nail beds are associated with arsenic or copper poisoning, and local fungal infection.
Redness is associated with heart conditions.
Other color changes and markings
Melanonychia (longitudinal streaking that darkens or does not grow out), especially on the thumb or big toe, may indicate subungual melanoma.
White lines across the nail (leukonychia striata, or transverse leukonychia) may be Mees lines or Muehrckes lines.
Small white patches are known as leukonychia punctata.
Dark nails are associated with B12 deficiency.
Stains of the nail plate (not the nail bed) are associated with smoking, and henna use.
Splinter hemorrhages (or haemorrhages) are tiny blood clots that tend to run vertically under the nails.
Drug-induced nail changes are caused by drug usage which may result in various abnormalities.: 665–6
Treatment
In approximately half of suspected nail fungus cases there is actually no fungal infection, but only some nail dystrophy. Before beginning oral antifungal therapy the health care provider should confirm a fungal infection. Administration of treatment to persons without an infection is unnecessary health care and causes needless exposure to side effects.
See also
Hangnail
List of cutaneous conditions
Occupational hazards associated with exposure to human nail dust
Yellow nail syndrome
References
External links
Fungal Nail Infections - explanation covering causes, treatment, and prevention
Links to pictures of Nail Diseases (Hardin MD/Univ of Iowa)
Nail Abnormalities: Clues to Systemic Disease
Links to pictures of Toenail Diseases (Wiggins MD) |
Eunuch | A eunuch ( YOO-nək) is a man who has been castrated. Throughout history, castration often served a specific social function.The earliest records for intentional castration to produce eunuchs are from the Sumerian city of Lagash in the 2nd millennium BCE. Over the millennia since, they have performed a wide variety of functions in many different cultures: courtiers or equivalent domestics, for espionage or clandestine operations, castrato singers, concubines, or sexual partners, religious specialists, soldiers, royal guards, government officials, and guardians of women or harem servants.
Eunuchs would usually be servants or slaves who had been castrated to make them less threatening servants of a royal court where physical access to the ruler could wield great influence. Seemingly lowly domestic functions—such as making the rulers bed, bathing him, cutting his hair, carrying him in his litter, or even relaying messages—could, in theory, give a eunuch "the rulers ear" and impart de facto power on the formally humble but trusted servant. Similar instances are reflected in the humble origins and etymology of many high offices.
Eunuchs supposedly did not generally have loyalties to the military, the aristocracy, or a family of their own (having neither offspring nor in-laws, at the very least). They were thus seen as more trustworthy and less interested in establishing a private "dynasty". Because their condition usually lowered their social status, they could also be easily replaced or killed without repercussion. In cultures that had both harems and eunuchs, eunuchs were sometimes used as harem servants.
Etymology
Eunuch comes from the Ancient Greek word εὐνοῦχος (eunoukhos), first attested in a fragment of Hipponax, the 6th century BCE comic poet and prolific inventor of compound words. The acerbic poet describes a particular lover of fine food having "consumed his estate dining lavishly and at leisure every day on tuna and garlic-honey cheese paté like a Lampsacene eunoukhos."The earliest surviving etymology of the word is from late antiquity. The 5th century (CE) Etymologicon by Orion of Thebes offers two alternative origins for the word eunuch: first, to tēn eunēn ekhein, "guarding the bed", a derivation inferred from eunuchs established role at the time as "bedchamber attendants" in the imperial palace, and second, to eu tou nou ekhein, "being good with respect to the mind", which Orion explains based on their "being deprived of intercourse (esterēmenou tou misgesthai), the things that the ancients used to call irrational (anoēta, literally: mindless)". Orions second option reflects well-established idioms in Ancient Greek, as shown by entries for transl. grc – transl. noos, eunoos and ekhein in Liddell and Scotts Greek-English Lexicon, while the first option is not listed as an idiom under eunē in that standard reference work. However, the first option was cited by the late 9th century Byzantine emperor Leo VI in his New Constitution 98 banning the marriage of eunuchs, in which he noted eunuchs reputation as trustworthy guardians of the marriage bed (eunē) and claimed that the very word eunuch attested to this kind of employment. The emperor also goes further than Orion by attributing eunuchs lack of male-female intercourse specifically to castration, which he said was performed with the intention "that they will no longer do the things that males do, or at least to extinguish whatever has to do with desire for the female sex". The 11th century Byzantine monk Nikon of the Black Mountain, opting instead for Orions second alternative, stated that the word came from eunoein (eu "good" + nous "mind"), thus meaning "to be well-minded, well-inclined, well-disposed or favorable", but unlike Orion he argued that this was due to the trust that certain jealous and suspicious foreign rulers placed in the loyalty of their eunuchized servants. Theophylact of Ohrid in a dialogue In Defence of Eunuchs also stated that the origin of the word was from eupnoeic and ekhein, "to have, hold", since they were always "well-disposed" toward the master who "held" or owned them. The 12th century Etymologicum Magnum (s.v. eunoukhos) essentially repeats the entry from Orion, but stands by the first option, while attributing the second option to what "some say". In the late 12th century, Eustathius of Thessalonica (Commentaries on Homer 1256.30, 1643.16) offered an original derivation of the word from eunis + okheuein, "deprived of mating".
In translations of the Bible into modern European languages, such as the Luther Bible or the King James Bible, the word eunuchs as found in the Latin Vulgate is usually rendered as an officer, official or chamberlain, consistent with the idea that the original meaning of eunuch was bed-keeper (Orions first option). Modern religious scholars have been disinclined to assume that the courts of Israel and Judah included castrated men, even though the original translation of the Bible into Greek used the word eunoukhos.
The early 17th-century scholar and theologian Gerardus Vossius therefore explains that the word originally designated an office, and he affirms the view that it was derived from eunē and ekhein (i.e. "bed-keeper"). He says the word came to be applied to castrated men in general because such men were the usual holders of that office. Still, Vossius notes the alternative etymologies offered by Eustathius ("deprived of mating") and others ("having the mind in a good state"), calling these analyses "quite subtle". Then, after having previously declared that eunuch designated an office (i.e., not a personal characteristic), Vossius ultimately sums up his argument in a different way, saying that the word "originally signified continent men" to whom the care of women was entrusted, and later came to refer to castration because "among foreigners" that role was performed "by those with mutilated bodies".
Modern etymologists have followed Orions first option. In an influential 1925 essay on the word eunuch and related terms, Ernst Maass suggested that Eustathiuss derivation "can or must be laid to rest", and he affirmed the derivation from eunē and ekhein ("guardian of the bed"), without mentioning the other derivation from eunoos and ekhein ("having a well-disposed state of mind").
In Latin, the words eunuchus, spado (Greek: σπάδων spadon), and castratus were used to denote eunuchs.
By region and epoch
Ancient Middle East
The four-thousand-year-old Egyptian Execration Texts threaten enemies in Nubia and Asia, specifically referencing "all males, all eunuchs, all women."Castration was sometimes punitive; under Assyrian law, homosexual acts were punishable by castration.
Eunuchs were familiar figures in the Assyrian Empire (ca. 850 until 622 BCE) and in the court of the Egyptian Pharaohs (down to the Lagid dynasty known as Ptolemies, ending with Cleopatra VII, 30 BCE). Eunuchs sometimes were used as regents for underage heirs to the throne, as it seems to be the case for the Neo-Hittite state of Carchemish. Political eunuchism became a fully established institution among the Achamenide Persians. Eunuchs held powerful positions in the Achaemenide court. The eunuch Bagoas (not to be confused with Alexanders Bagoas) was the Vizier of Artaxerxes III and Artaxerxes IV, and was the primary power behind the throne during their reigns, until he was killed by Darius III.Marmon (1995) writes "Mamluk biographies of the eunuchs often praise their appearance with adjectives such as jamil (beautiful), wasim (handsome), and ahsan (the best, most beautiful) or akmal (the most perfect)."
Ancient Greece, Rome and Byzantium
The practice was also well established in other Mediterranean areas among the Greeks and Romans, although a role as court functionary does not arise until Byzantine times. The Galli or Priests of Cybele were eunuchs.
In the late period of the Roman Empire, after the adoption of the oriental royal court model by the Emperors Diocletian (r. 284-305) and Constantine (r. 306–337), emperors were surrounded by eunuchs for such functions as bathing, haircutting, dressing, and bureaucratic functions, in effect acting as a shield between the emperor and his administrators from physical contact, thus enjoying great influence in the imperial court (see Eusebius and Eutropius). Julian (r. 361–363) released the eunuchs from their service because he felt they were overpaid, and he subsequently realized how much they had contributed to palace operations.The Roman poet Martial rails against a woman who has sex with partially castrated eunuchs (those whose testicles were removed or rendered inactive only) in the bitter epigram (VI, 67): "Do you ask, Panychus, why your Caelia only consorts with eunuchs? Caelia wants the flowers of marriage – not the fruits." It is up for debate whether this passage is representative of any sort of widely practiced behavior, however.
At the Byzantine imperial court, there were a great number of eunuchs employed in domestic and administrative functions, actually organized as a separate hierarchy, following a parallel career of their own. Archieunuchs—each in charge of a group of eunuchs—were among the principal officers in Constantinople, under the emperors. Under Justinian in the 6th century, the eunuch Narses functioned as a successful general in a number of campaigns.
Advantages of eunuchs were that they prevented offices from becoming hereditary, allowing appointments to be made on merit; they were more dedicated to their jobs, not being distracted by family obligations; and they were ineligible for the throne, and for that reason thought by emperors to be safe. Those who had been deprived not only of their testicles but also their penises were known in Greek as carzimasia, and were highly prized.By the last centuries of the Empire, the number of roles reserved for eunuchs had reduced, and their use may have been all but over.Following the Byzantine tradition, eunuchs had important tasks at the court of the Norman Kingdom of Sicily during the middle 12th century. One of them, Philip of Mahdia, has been admiratus admiratorum, and another one, Ahmed es-Sikeli, was prime minister.
China
In China, castration included removal of the penis as well as the testicles (see emasculation). Both organs were cut off with a knife at the same time.Eunuchs existed in China from about 4,000 years ago, were imperial servants by 3,000 years ago, and were common as civil servants by the time of the Qin dynasty. From those ancient times until the Sui dynasty, castration was both a traditional punishment (one of the Five Punishments) and a means of gaining employment in the Imperial service. Certain eunuchs, such as the Ming dynasty official Zheng He, gained immense power that occasionally superseded that of even the Grand Secretaries. Self-castration was a common practice, although it was not always performed completely, which led to it being made illegal.
It is said that the justification for the employment of eunuchs as high-ranking civil servants was that, since they were incapable of having children, they would not be tempted to seize power and start a dynasty. In many cases, eunuchs were considered more reliable than the scholar-officials. As a symbolic assignment of heavenly authority to the palace system, a constellation of stars was designated as the Emperors, and, to the west of it, four stars were identified as his "eunuchs."The tension between eunuchs in the service of the emperor and virtuous Confucian officials is a familiar theme in Chinese history. In his History of Government, Samuel Finer points out that reality was not always that clear-cut. There were instances of very capable eunuchs who were valuable advisers to their emperor, and the resistance of the "virtuous" officials often stemmed from jealousy on their part. Ray Huang argues that in reality, eunuchs represented the personal will of the Emperor, while the officials represented the alternative political will of the bureaucracy. The clash between them would thus have been a clash of ideologies or political agenda.The number of eunuchs in Imperial employ fell to 470 by 1912, when the practice of using them ceased. The last Imperial eunuch, Sun Yaoting, died in December 1996.
Korea
The eunuchs of Korea, called Naesi (내시, 內侍), were officials to the king and other royalty in traditional Korean society. The first recorded appearance of a Korean eunuch was in Goryeosa ("History of Goryeo"), a compilation about the Goryeo Dynasty period. In 1392, with the founding of the Joseon Dynasty, the Naesi system was revised, and the department was renamed the "Department of Naesi" (내시부, 內侍府).The Naesi system included two ranks, those of Sangseon (상선, 尙膳, "Chief of Naesi"), who held the official title of senior second rank, and Naegwan (내관, 內官, "Common official naesi"), both of which held rank as officers. 140 naesi in total served the palace in Joseon Dynasty period. They also took the exam on Confucianism every month. The naesi system was repealed in 1894 following Gabo reform.
During the Yuan dynasty, eunuchs became a desirable commodity for tributes.Eunuchs were the only males outside the royal family allowed to stay inside the palace overnight. Court records going back to 1392 indicate that the average lifespan of eunuchs was 70.0 ± 1.76 years, which was 14.4–19.1 years longer than the lifespan of non-castrated men of similar socioeconomic status.
Vietnam
The Vietnamese adopted the eunuch system and castration techniques from China. Records show that the Vietnamese performed castration in a painful procedure by removing the entire genitalia with both penis and testicles being cut off with a sharp knife or metal blade. The procedure was agonizing since the entire penis was cut off. The young mans thighs and abdomen would be tied and others would pin him down on a table. The genitals would be washed with pepper water and then cut off. A tube would be then inserted into the urethra to allow urination during healing. Many Vietnamese eunuchs were products of self castration to gain access to the palaces and power. In other cases they might be paid to become eunuchs. They served in many capacities, from supervising public works, to investigating crimes, to reading public proclamations.
Thailand
In Siam (modern Thailand) Indian Muslims from the Coromandel Coast served as eunuchs in the Thai palace and court. The Thai at times asked eunuchs from China to visit the court in Thailand and advise them on court ritual since they held them in high regard.
Burma
Sir Henry Yule saw many Muslims serving as eunuchs in the Konbaung Dynasty of Burma (modern Myanmar) while on a diplomatic mission.
Arabian Peninsula
For several centuries, Muslim Eunuchs were tasked with honored roles in Medina and Mecca. They are thought to have been instituted in their role there by Salah ad-Deen Ayubi, but perhaps earlier. Their tasks included caring for the Prophet Muhammad’s tomb, maintaining borders between males and females where needed, and keeping order in the sacred spaces. They were highly respected in their time and remained there throughout the Ottoman Empire’s control of the area and afterward. In the present day, it is reported that only a few remain.
Ottoman Empire
In the Ottoman Empire, eunuchs were typically slaves imported from outside their domains. A fair proportion of male slaves were imported as eunuchs.
The Ottoman court harem—within the Topkapı Palace (1465–1853) and later the Dolmabahçe Palace (1853–1909) in Istanbul—was under the administration of the eunuchs. These were of two categories: black eunuchs and white eunuchs. Black eunuchs were African slaves who served the concubines and officials in the Harem together with chamber maidens of low rank. The white eunuchs were European slaves from the Balkans or the Caucasus, either purchased in the slave markets or taken as boys from Christian families in the Balkans who were unable to pay the Jizya tax. They served the recruits at the Palace School and were from 1582 prohibited from entering the Harem. An important figure in the Ottoman court was the Chief Black Eunuch (Kızlar Ağası or Dar al-Saada Ağası). In control of both the Harem and a net of spies among the black eunuchs, the Chief Eunuch was involved in almost every palace intrigue and thereby could gain power over either the sultan or one of his viziers, ministers, or other court officials. One of the most powerful Chief Eunuchs was Beshir Agha in the 1730s, who played a crucial role in establishing the Ottoman version of Hanafi Islam throughout the Empire by founding libraries and schools.
Coptic involvement
In the 14th century, the Muslim Egyptian religious scholar Taj-al-Din Abu Nasr Abdal-Wahhab al-Subki discussed eunuchs in his book Kitab Muid al-Niam wa Mubid al-Niqam (Arabic: كتاب معيد النعم ومبيد النقم), a title that has been translated as Book of the Guide to [Divine] Benefits and Averting of [Divine] Vengeance and also as Book of Tutor of Graces and Annihilator of Misfortunes. In a chapter dedicated to eunuchs, Al-Subki made "the clear implication that eunuchness is itself an office," Shaun Marmon explained, adding that al-Subki had specified occupational subgroups for the tawashiya [eunuchs]: the zimam watched over women, and the muqaddam al-mamalik over adolescent boys.Edmund Andrews of Northwestern University, in an 1898 article called "Oriental Eunuchs" in the American Journal of Medicine, refers to Coptic priests in "Abou Gerhè in Upper Egypt" castrating slave boys.
Coptic castration of slaves was discussed by Peter Charles Remondino, in his book History of Circumcision from the Earliest Times to the Present, published in 1900. He refers to the "Abou-Gerghè" monastery in a place he calls "Mount Ghebel-Eter". He adds details not mentioned by Andrews such as the insertion of bamboo into the victim. Bamboo was used with Chinese eunuchs. Andrews states his information is derived from an earlier work, Les Femmes, les eunuques, et les guerriers du Soudan, published by a French explorer, Count Raoul du Bisson, in 1868, though this detail does not appear in Du Bissons book.Remondinos claims were repeated in similar form by Henry G. Spooner in 1919, in the American Journal of Urology and Sexology. Spooner, an associate of William J. Robinson, referred to the monastery as "Abou Gerbe in Upper Egypt".According to Remondino, Spooner, and several later sources, the Coptic priests sliced the penis and testicles off Nubian or Abyssinian slave boys around the age of eight. The boys were captured from Abyssinia and other areas in Sudan like Darfur and Kordofan, then brought into Sudan and Egypt. During the operation, the Coptic clergyman chained the boys to tables, then, after slicing off their sexual organs, stuck a piece of bamboo into the urethra and submerged them in neck-high sand under the sun. The survival rate was ten percent. Slave traders made especially large profits off eunuchs from this region.However, neither "Abou Gerbe", as an actual monastery, nor "Mount Ghebel Eter", as an actual location, are known. Additionally, the cited references from Andrews, Remondino and Spooner appear circular, originating in tales told by a single French explorer. The later cited sources simply copy the earlier ones. Further, the 90% mortality rate seems economically improbable, given that it would require that markets paid at least 15 times the value of an uncastrated slave boy for a eunuch slave boy. A modern peer-reviewed source reports survival in Chinese court castrations of children at 33%, which is quite low, but nevertheless far higher than reported by Remondino. The same source reports later adult castrations as having a survival rate of 98%. Consequently, the accounts of castration by Coptic monks reported above, along with the 90% mortality figure, should be treated with considerable skepticism.
Fatimid Caliphate
In the Shii Fatimid Empire (909CE - 1171CE) eunuchs played major roles in the politics of the caliphates court, as well as holding a certain level of sacredness due to their association with the Fatimid imam-caliph. The eunuchs of the empire were normally purchased from slave auctions and belonged to a variety of Arab and non-Arab minority groups, though in many other cases they were brought from various noble families in the empire, which gave these individuals special connections to the Caliph. However, a system that employed foreign slaves, from multiple ethic & multi-linguistic groups were preferred and often quoted as "ideal servants". With imams normally ruling over a majority non-Shii population the court eunuchs served an important role of being ambassadors of the Imam-Caliph. They would use their own loyalty and fervor toward both the Shii sect and the imam-caliph himself amongst the common people of the empire to increase love for Fatimid rule. This was effective due to the mixed heritages of the eunuchs which gave them an ethnic and/or cultural common ground with the people they spoke with. Not just due to their inability to produce offspring, which made them less of a threat politically, but also in the fact that they had no choice but to dedicate their lives to their masters. Politically speaking the eunuchs often were placed into positions of significant power in one of four sectors; the service of the female members of the court, the service of the male members of the court, administrative and clerical positions, and military service. This is seen during the Fatimid occupation of Cairo. Here eunuchs had at some point held the position of shurta and hisba who controlled the military garrison and the markets respectively; the two most important positions in the city besides the magistrate himself. The wide net of eunuchs across all elements of the court made them quite unique in the political realm, As only they could deal with both men and women. However the most important role of Fatimid Eunuchs was in their direct service to the Imam-Caliphs as chamberlains, treasurers, governors, and attendants. Here they held a great amount of political and spiritual sway in both the noble realm and the commoner population. For instance in 946 AD the Imam-Caliph al-Qaim died resulting in a power vacuum causing a large familial conflict. This conflict only came to an end due to the Court Eunuch al-Jawdhar informing the possible heirs that al-Qaim had bequeathed his title to his son al-Mansur. Al-Jawdhar was the sole person told about this by al-Qiam as the hujja, which in the Shii sect of Islam is the chosen individual that imams are able to inform about their line of succession. This was one of the most sacred positions in the sect as they were seen as great wells of religious knowledge and law. There were several other eunuchs of high regard in Fatimid history, mainly being Abul-Fadi Rifq al-Khadim and Abul-Futuh Barjawan al-Ustadh. Rifq was a black African eunuch general served as governor of the Damascus until he led an army of 30,000 men in a campaign to expand Fatimid control northeast to the city of Aleppo, Syria. He was noted for being able to unite a diverse group of black Africans, Arabs, Bedouins, Berbers, and Turks into one coherent fight force which was able to successfully combat the Mirdasids, Bedouins, and Byzantines. Barjawan was a European eunuch during late Fatimid rule who gained power through his military and political savvy which brought peace between them and the Byzantine empire. Moreover, he squashed revolts in the Libya and the Levant. Given his reputation and power in the court and military he took the reigns of the caliphate from his then student al-Hakim bi-Amr Allah; then ruled as the de facto Regent 997 CE. His usurpation of power from the caliph resulted in his assassination in 1000 CE on the orders of al-Hakim.
Algiers
In the 16th century, an Englishman, Samson Rowlie, was captured and castrated to serve the Ottoman governor in Algiers.
Indian subcontinent (Central Asian Muslim conquerors)
Eunuchs in Indian sultanates (before the Mughals)
Eunuchs were frequently employed in Imperial palaces by Muslim rulers as servants for female royalty, as guards of the royal harem, and as sexual mates for the nobles. Some of them attained high-status positions in society. An early example of such a high-ranking eunuch was Malik Kafur. Eunuchs in Imperial palaces were organized in a hierarchy, often with a senior or Chief Eunuch (Urdu: Khwaja Saras), directing junior eunuchs below him. Eunuchs were highly valued for their strength and trustworthiness, allowing them to live amongst women with fewer worries. This enabled eunuchs to serve as messengers, watchmen, attendants and guards for palaces. Often, eunuchs also doubled as part of the Kings court of advisers.
The hijra of South Asia
Hijra, a Hindi term traditionally translated into English as "eunuch", actually refers to what modern Westerners would call transgender women and effeminate homosexual men (although some of them reportedly identify as belonging to a third sex). The history of this third sex is mentioned in the Ancient Indian Kama Sutra, which refers to people of a "third sex" (triteeyaprakrti). Some of them undergo ritual castration, but the majority do not.
They usually dress in saris (traditional garb worn by women in India) or shalwar kameez (traditional garb worn by women in South Asia) and wear heavy make-up. They typically live on the margins of society and face discrimination. Hijra tend to have few options for earning a wage, with many turning to sex work and others performing ritualistic songs and dances. They are integral to several Hindu ceremonies, such as dance programs at marriage ceremonies. They may also earn a living by going uninvited to large ceremonies such as weddings, births, new shop openings and other major family events, and singing until they are paid or given gifts to go away. The ceremony is supposed to bring good luck and fertility, while the curse of an unappeased hijra is feared by many. Hijra often engage in prostitution and begging to earn money, with begging typically accompanied by singing and dancing. Some Indian provincial officials have used the assistance of hijras to collect taxes in the same fashion—they knock on the doors of shopkeepers, while dancing |
Eunuch | and singing, embarrassing them into paying. Recently, hijras have started to found organizations to improve their social condition and fight discrimination, such as the Shemale Foundation Pakistan.
Religious castration
Castration as part of religious practice, and eunuchs occupying religious roles, have been established prior to classical antiquity. Archaeological finds at Çatalhöyük in Anatolia indicate worship of a Magna Mater figure, a forerunner of the goddess Cybele found in later Anatolia and other parts of the near East. Later Roman followers of Cybele were called Galli, who practiced ritual self-castration, known as sanguinaria. Eunuch priests also figured prominently in the Atargatis cult in Syria during the first centuries AD.The practice of religious castration continued into the Christian era, with members of the early church practicing celibacy (including castration) for religious purposes, although the extent and even the existence of this practice among Christians is subject to debate. The early theologian Origen found evidence of the practice in Matthew 19:10–12: "His disciples said to him, If such is the case of a man with his wife, it is better not to marry. But he said to them, Not everyone can accept this teaching, but only those to whom it is given. For there are eunuchs who have been so from birth, and there are eunuchs who have been made eunuchs by others, and there are eunuchs who have made themselves eunuchs for the sake of the kingdom of heaven. Let anyone accept this who can." (NRSV)
Tertullian, a 2nd-century Church Father, described Jesus himself and Paul of Tarsus as spadones, which is translated as "eunuchs" in some contexts. Quoting from the cited book: "Tertullian takes spado to mean virgin". The meaning of spado in late antiquity can be interpreted as a metaphor for celibacy. Tertullian even goes so far with the metaphor as to say St. Paul had been "castrated".Eunuch priests have served various goddesses from India for many centuries. Similar phenomena are exemplified by some modern Indian communities of the hijra, which are associated with a deity and with certain rituals and festivals – notably the devotees of Yellammadevi, or jogappas, who are not castrated, and the Ali of southern India, of whom at least some are.The 18th-century Russian Skoptzy (скопцы) sect was an example of a castration cult, where its members regarded castration as a way of renouncing the sins of the flesh. Several members of the 20th-century Heavens Gate cult were found to have been castrated, apparently voluntarily and for the same reasons.
In the Bible
[6] Wherefore they are no more twain, but one flesh. What therefore God hath joined together, let not man put asunder. [7] They say unto him, Why did Moses then command to give a writing of divorcement, and to put her away? [8] He saith unto them, Moses because of the hardness of your hearts suffered you to put away your wives: but from the beginning it was not so. [9] And I say unto you, Whosoever shall put away his wife, except [it be] for fornication, and shall marry another, committeth adultery: and whoso marrieth her which is put away doth commit adultery. [10] His disciples say unto him, If the case of the man be so with [his] wife, it is not good to marry. [11] But he said unto them, All [men] cannot receive this saying, save [they] to whom it is given. [12] For there are some eunuchs, which were so born from [their] mothers womb: and there are some eunuchs, which were made eunuchs of men: and there be eunuchs, which have made themselves eunuchs for the kingdom of heavens sake. He that is able to receive [it], let him receive [it].
The reference to "eunuchs" in Matthew 19:12 has yielded various interpretations.
Eunuchs are mentioned many times in the Bible, such as in the Book of Isaiah (56:4) using the word סריס (saris). Although the Ancient Hebrews did not practice castration, eunuchs were common in other cultures featured in the Bible, such as ancient Egypt, Babylonia, the Persian Empire, and ancient Rome. In the Book of Esther, servants of the harem of Ahasuerus, such as Hegai and Shashgaz, as well as other servants such as Hatach, Harbonah, Bigthan, and Teresh, are referred to as sarisim. Being exposed to the consorts of the king, they would likely have been castrated.
There is some confusion regarding eunuchs in Old Testament passages, since the Hebrew word for eunuch, saris (סריס), could also refer to other servants and officials who had not been castrated but served in similar capacities.One of the earliest converts to Christianity was an Ethiopian eunuch who was a high court official of Candace, the Queen of Ethiopia, but was already a eunuch at the time of conversion (Acts 8:27–39).
Non-castrated eunuchs
The term eunuch has sometimes figuratively been used for a wide range of men who were seen to be physically unable to procreate. Hippocrates describes the Scythians as being afflicted with high rates of erectile dysfunction and thus "the most eunuchoid of all nations" (Airs Waters Places 22). In the Charlton T. Lewis, Charles Short, A Latin Dictionary, the term literally used for impotent males is spado but may also be used for eunuchs.
Some men have falsified the status of their castration to gain entrance into the palace. Chinese eunuch Lao Ai for instance, became the lover of the mother of Qin Shi Huang, who bore him two sons, before Lao Ai and his sons were executed after participating in a rebellion against Qin Shi Huang.
Castrato singers
Eunuchs castrated before puberty were also valued and trained in several cultures for their exceptional voices, which retained a childlike and other-worldly flexibility and treble pitch (a high-pitched voice). Such eunuchs were known as castrati.
As women were sometimes forbidden to sing in Church, their place was taken by castrati. Castrati became very popular in 18th century opera seria. The practice, known as castratism, remained popular until the 18th century and was known into the 19th century. The last famous Italian castrato, Giovanni Velluti, died in 1861. The sole existing sound recording of a castrato singer documents the voice of Alessandro Moreschi, the last eunuch in the Sistine Chapel choir, who died in 1922.
This Italian practice of castrating young males to maintain their soprano voices was ended by Pope Leo XIII (1878).
In popular culture
Notable eunuchs
In chronological order.
First millennium BCE
Mutakkil-Marduk (8th century BCE): Assyrian chief eunuch, eponym of the year 798 BCE in an Assyrian eponym chronicle.
Yariri (8th century BCE): regent of Neo-Hittite Carchemish thought likely to be a eunuch.
Sin-shumu-lishir (7th century BCE): Assyrian eunuch who attempted to usurp power in the Neo-Assyrian Empire.
Aspamistres or Mithridates (5th century BCE): bodyguard of Xerxes I of Persia, and (with Artabanus) his murderer.
Artoxares: an envoy of Artaxerxes I and Darius II of Persia.
Bagoas (4th century BCE): prime minister of king Artaxerxes III of Persia, and his assassin (Bagoas is an old Persian word meaning eunuch).
Bagoas (4th century BCE): a favorite of Alexander the Great. Influential in changing Alexanders attitude toward Persians and therefore in the kings policy decision to try to integrate the conquered peoples fully into his Empire as loyal subjects. He thereby paved the way for the relative success of Alexanders Seleucid successors and greatly enhanced the diffusion of Greek culture to the East.
Batis (4th century BCE): resisted Alexander the Great at the Siege of Gaza.
Philetaerus (4th/3rd century BCE): founder of the Attalid dynasty of Pergamum
Zhao Gao (died 210 BCE): favourite of Qin Shihuangdi, who plotted against Li Si.
Sima Qian (old romanization Ssu-ma Chien; 2nd/1st century BCE): the first person to have practiced modern historiography – gathering and analyzing both primary and secondary sources to write his monumental history of the Chinese Empire.
Ganymedes (1st century BCE): highly capable adviser and general of Cleopatra VIIs sister and rival, Princess Arsinoe. Unsuccessfully attacked Julius Caesar three times at Alexandria.
Pothinus (1st century BCE): regent for pharaoh Ptolemy XII.
First millennium CE
Sporus (died 69): an attractive Roman boy who was castrated by, and later married to, Emperor Nero.
Unidentified "Ethiopian eunuch" (1st century AD), from the Kingdom of Kush in modern-day Sudan, described in the Acts of the Apostles (chapter 8). Philip the Evangelist, one of the original seven deacons, is directed by the Holy Spirit to catch up to the eunuchs chariot and hears him reading from the Book of Isaiah (chapter 53). Philip explained that the section prophesies Jesus crucifixion, which Philip described to the eunuch. The eunuch was baptized shortly thereafter.
Halotus (c. 20–30 CE – c. 70–80 CE), servant to the Roman Emperor Claudius and suspected of poisoning him.
Cai Lun (c. 50–62–121): Former attribution to Lun as the inventor of paper has been rescinded following discovery of many earlier manuscripts written on paper. It is now highly questionable if he was directly involved in making paper.
Zhang Rang: head of the infamous "10 Changshi" (ten attendants) of the Eastern Han dynasty.
Huang Hao: eunuch in the state of Shu; also appears in the Romance of the Three Kingdoms.
Cen Hun (died 280): eunuch in the state of Wu during the Three Kingdoms Period.
Origen (c. 185–c. 253): early Christian theologian, allegedly castrated himself based on his reading of the Gospel of Matthew 19:12 ("For there are eunuchs, who were born so from their mothers womb: and there are eunuchs, who were made so by men: and there are eunuchs, who have made themselves eunuchs for the kingdom of heaven. He that can take, let him take it."). Despite the fact that the early Christian theologian Tertullian wrote that Jesus was a eunuch, there is no corroboration in any other early source. (The Skoptsy did, however, believe it to be true.)
Chusdazat (died 344): He served King Shapur II, who killed him for declaring his Christian identity.
Dorotheus of Tyre (255–362): A bishop who attended the Council of Nicaea, was exiled by Diocletian and Julian, and was martyred.
Eutropius (died 399): only eunuch known to have attained the highly distinguished office of Roman Consul.
Chrysaphius (died 450): chief minister of Eastern Roman Emperor Theodosius II, architect of imperial policy towards the Huns.
Narses (478–573): general of Byzantine emperor Justinian I, responsible for destroying the Ostrogoths in 552 at the Battle of Taginae in Italy and reconquering Rome for the empire.
Solomon (480s/490s–544): general and governor of Africa under Justinian I.
Gao Lishi (684–762): a loyal and trusted friend of Tang emperor Xuanzong.
Li Fuguo (704–762): Tang eunuch who began another era of eunuch rule.
Yu Chaoen (722–770): Tang eunuch who began his career as army supervisor.
Staurakios (died 800): chief associate and minister of the Byzantine empress Irene of Athens.
Ignatius of Constantinople (799–877): twice Patriarch of Constantinople during troubled political times (847–858 and 867–877). First absolutely unquestioned eunuch saint, recognized by both the Orthodox and Roman Churches. (There are a great many early saints who were probably eunuchs, though few either as influential nor unquestioned as to their castration.)
Yazaman al-Khadim (died 891): Emir of Tarsus and successful commander in the wars against the Byzantine Empire.
Munis al-Khadim (845/846–933/934): Commander-in-chief of the Abbasid armies between 908 and his death.
Joseph Bringas (died 965): chief minister of the Byzantine Empire under Romanos II (959–963).
Second millennium CE
Jia Xian (c. 1010–c. 1070): Chinese mathematician; invented the Jia Xian triangle for the calculation of square roots and cube roots.
Ly Thuong Kiet (1019–1105): general during the Lý Dynasty in Vietnam. Penned what is considered the first Vietnamese declaration of independence. Regarded as a Vietnamese national hero.
Pierre Abélard (1079–1142): French scholastic philosopher and theologian. Forcibly castrated by his girlfriends uncle while in bed.
Lulu al-Yaya (died 1117): Regent of the Seljuk sultanate of Aleppo.
Malik Kafur (fl. 1296–1316): a eunuch slave who became a general in the army of Alauddin Khalji, ruler of the Delhi sultanate.
Zheng He (1371–1433): famous admiral who led huge Chinese fleets of exploration around the Indian Ocean.
Yishiha (15th century): admiral in charge of expeditions down the Amur River under the Yongle and Xuande Emperors.
Wu Rui (15th century): a Chinese eunuch in Lê Dynasty Annam (Vietnam).
Gang Bing (died 1410): patron saint of eunuchs in China who castrated himself to demonstrate his loyalty to the Yongle Emperor.
Wang Zhen (died 1449): first Ming eunuch with much power; see Tumu Crisis.
Kim Cheo Seon (1421–1505): one of the most famous eunuchs in Korean Joseon Dynasty, ably served kings in the Joseon dynasty. His life is the subject of a historical drama in South Korea.
Liu Jin (1451–1510): corrupt eunuch official of the Ming dynasty and de facto emperor, member of the Eight Tigers.
Judar Pasha (1562–1606): a Spanish eunuch who became the head of the Moroccan invasion force into the Songhai Empire.
Wei Zhongxian (1568–1627): eunuch of the Ming dynasty, considered the most powerful eunuch in Chinese history.
Senesino (1686–1758): Italian contralto castrato singer.
Farinelli (1705–1782): Italian soprano castrato singer.
Giusto Fernando Tenducci (c. 1736–1790): Italian soprano castrato singer.
Mohammad Khan Qajar (1742–1797): chief of the Qajar tribe. He became the King/Shah of Persia in 1794 and established the Qajar dynasty.
Lê Văn Duyệt (c. 1763–1832): Vietnamese eunuch, military strategist and government official (not a true eunuch, he was born a hermaphrodite).
Thomas P. "Boston" Corbett (b. 1832; presumed dead 1894): killer of John Wilkes Booth, the assassin of Abraham Lincoln, who castrated himself to avoid temptation from prostitutes.
Li Lianying (1848–1911): a despotic eunuch of the Qing dynasty.
Alessandro Moreschi (1858–1922): Italian castrato singer, the only one to make recordings.
Xin Xiuming (1878–1959): Entered Emperor Puyis service in 1902; left palace service in 1911; became abbot of the Taoist temple at the Babaoshan Revolutionary Cemetery by 1930; wrote memoir Eunuchs Recollection (老太监的回忆).
Sun Yaoting (1902–1996): last surviving imperial eunuch of Chinese history.
See also
The dictionary definition of eunuch at Wiktionary
Nullo (body modification)
References & bibliography
Citations
Further reading
Further listening
In Our Time: The Eunuch. Presenter: Melvyn Bragg. Interviewed Guests: Karen Radner, Professor of Ancient Near Eastern History at University College London; Shaun Tougher, Reader in Ancient History at Cardiff University; Michael Hoeckelmann, British Academy Postdoctoral Fellow in the Department of History at Kings College London. Producer: Thomas Morris. Broadcaster: BBC Radio 4. Date: 26 February 2015
External links
"38 rare pictures of eunuchs during Qing Dynasty". China Underground.
"Born Eunuchs". Well.com.
"Eunuchs in Pharaonic Egypt". well.com.
"The Ancient Roman and Talmudic Definition of Natural Eunuchs". well.com.
"The Eunuch Archive". eunuch.org.
"The Perfect Servant: Eunuchs and the Social Construction of Gender in Byzantium". Archived from the original on 29 December 2007 – via Find Articles. |
Fukuyama congenital muscular dystrophy | Fukuyama congenital muscular dystrophy (FCMD) is a rare, autosomal recessive form of muscular dystrophy (weakness and breakdown of muscular tissue) mainly described in Japan but also identified in Turkish and Ashkenazi Jewish patients; fifteen cases were first described on 1960 by Dr. Yukio Fukuyama.FCMD mainly affects the brain, eyes, and muscles, in particular, the disorder affects development of the skeletal muscles leading to weakness and deformed appearances, and brain development is blunted affecting cognitive functioning as well as social skills. In 1995, the disorder was linked to mutations in a gene coding for the protein fukutin (the FCMD gene). Fukuyama congenital muscular dystrophy is the second most prevalent form of muscular dystrophy in Japan. One out of every 90 people in Japan is a heterozygous carrier.
Symptoms and signs
In terms of the signs/symptoms of Fukuyama congenital muscular dystrophy it is characterized by a decrease in skeletal muscle tone as well as an impairment in brain and eye development. Initial symptoms of FCMD present in early infancy as decreased ability to feed. Marked differences in facial appearance occur due to decreased muscle tone. Further characteristics include:
Seizures
Delay in development
Cardiac issues
Swallowing difficulty
Neurological problemsFukuyama congenital muscular dystrophy also affects the nervous system and various associated parts. FCMD affects normal development of the brain producing a broadly smooth, bumpy shaped cortex named cobblestone lissencephaly as well as various other malformations, notably micropolygyria. Children also experience delayed myelination in the brain.
Cause
The cause of Fukuyama congenital muscular dystrophy is rooted in the FKTN gene, located at human chromosome 9q31, codes for the protein fukutin. Mutations in this gene, and therefore the fukutin protein, are the cause of FCMD. The disease is inherited in an autosomal recessive manner.This means the defective gene responsible for the disorder is located on an autosome (chromosome 9 is an autosome), and two copies of the defective gene (one inherited from each parent) are required in order to be born with the disorder. The parents of an individual with an autosomal recessive disorder both carry one copy of the defective gene but usually do not experience any signs or symptoms of the disorder.Two mutations have been identified. The first and most common is an SVA retrotransposal insertion in the 3-untranslated region. The second is a deep-intronic point mutation c.647+2084G>T. This second mutation has only been found to date in the presence of the first mutation.
Pathophysiology
The mechanism of this sub-type of muscular dystrophy consists of a mutation in the FKTN gene which results in a malformed fukutin protein. It is thought that fukutin modifies the alpha-dystroglycan protein, which is important in anchoring cells to certain molecules, specifically including some proteins. Alpha-dystroglycan in skeletal muscles helps to prevent the breakdown of muscle fibers through stabilization and protection. Alpha-dystroglycan also helps brain development by assisting in the migration of neurons. Most frequently, FKTN is mutated in such a way that creates a shortage of fukutin in the cell, which in turn creates problems during formation of alpha-dystroglycan leading to less stabilization of muscle cells. Use of the destabilized muscle fibers over time causes them to break down and a gradual decline in muscle tone and atrophy of muscle fibers occurs. The decline in cerebral fukutin causes neuronal cells to continue moving beyond their intended destination. Additionally, oxidative stress has some effect on astrocytes (as well as, neurons) when fukutin is subdued.
Diagnosis
In terms of diagnosis of Fukuyama congenital muscular dystrophy, serum creatine kinase concentration and muscle biopsies can be obtained to help determine if the individual has FMCD. FKTN molecular genetic testing is used to determine a mutation in the FKTN gene after a serum creatine kinase concentration, muscle biopsies, and/or MRI imaging have presented abnormalities indicative of FCMD, the presence of the symptoms indicates Fukuyama congenital muscular dystrophy. The available genetic test include:
Linkage analysis
Deletion analysis
Sequence analysis - exons
Sequence analysis - entire coding region
Treatment
Currently this sub-type of muscular dystrophy has no cure and no definitive treatment exists. Treatment offers preventative tactics to delay muscle breakdown and increase life expectancy. Stretching and physical therapy can increase mobility. Treatment also includes correcting skeletal abnormalities through orthopedic surgery and other orthopedic techniques. Antiepileptic medication is administered to help prevent seizures. ACE inhibitors and beta blockers help treat heart conditions, and respiratory assistance is more than likely needed at some point for the affected individual.
Prognosis
Fukuyama congenital muscular dystrophy has a poor prognosis. Most children with FCMD reach a maximum mobility at sitting upright and sliding. Due to the compounded effects of continually worsening heart problems, impaired mental development, problems swallowing and additional complications, children with FCMD rarely live through adolescence, the disorder proves fatal by age 20.
See also
Congenital muscular dystrophy
Muscular dystrophy
References
Further reading
Aida, N.; Tamagawa, K.; Takada, K.; Yagishita, A.; Kobayashi, N.; Chikumaru, K.; Iwamoto, H. (1996-04-01). "Brain MR in Fukuyama congenital muscular dystrophy". American Journal of Neuroradiology. 17 (4): 605–613. ISSN 0195-6108. PMID 8730178.
Saito, Fumiaki; Matsumura, Kiichiro (2011-01-01). "Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan". Skeletal Muscle. 1: 22. doi:10.1186/2044-5040-1-22. ISSN 2044-5040. PMC 3156645.
Fukuyama type muscular dystrophy at NIHs Office of Rare Diseases
== External links == |
Isolated hypogonadotropic hypogonadism | Isolated hypogonadotropic hypogonadism (IHH), also called idiopathic or congenital hypogonadotropic hypogonadism (CHH), as well as isolated or congenital gonadotropin-releasing hormone deficiency (IGD), is a condition which results in a small subset of cases of hypogonadotropic hypogonadism (HH) due to deficiency in or insensitivity to gonadotropin-releasing hormone (GnRH) where the function and anatomy of the anterior pituitary is otherwise normal and secondary causes of HH are not present.
Presentation
Congenital hypogonadotropic hypogonadism presents as hypogonadism, e.g., reduced or absent puberty, low libido, infertility, etc. due to an impaired release of the gonadotropins, follicle-stimulating hormone (FSH) and luteinizing hormone (LH), and a resultant lack of sex steroid and peptides production by the gonads.In Kallmann syndrome, a variable non-reproductive phenotype occurs with anosmia (loss of the sense of smell) including sensorineural deafness, coloboma, bimanual synkinesis, craniofacial abnormalities, and/or renal agenesis.
Causes
IHH is divided into two syndromes: IHH with olfactory alterations or anosmia, Kallmann syndrome and IHH with normal smell (normosmic IHH).Kallmann syndrome is responsible for approximately 50% of all cases of the condition. It is associated with mutations in KAL1, FGFR1/FGF8, FGF17, IL17RD, PROKR2, NELF, CHD7(which positively regulates GnRH secretion), HS6ST1, FLRT3, SPRY4, DUSP6, SEMA3A, and WDR11 (gene), genes which are related to defects in neuronal migration.Gene defects associated with IHH and normal smell include PROKR2, FGFR1, FGF8, CHD7, DUSP6, and WDR11, as in KS, but in addition
also mutations in KISS1R, TACR3, GNRH1/GNRHR, LEP/LEPR, HESX1, FSHB, and LHB. GnRH insensitivity is the second most common cause of IHH, responsible for up to 20% of cases.A minority of less than 5-10% is due to inactivating mutations in genes which positively regulate GnRH secretion such as CHD7, KISS1R, and TACR3.The causes of about 25% of all IHH cases are still unknown.
Genetics
Treatment
See also
Hypogonadotropic hypogonadism
Hypergonadotropic hypogonadism
Kallmann syndrome
Genetics of GnRH deficiency conditions
HPG axis
Gonads (testicles and ovaries)
GnRH and gonadotropins (FSH and LH)
Sex hormones (androgens and estrogens)
Fertile eunuch syndrome
References
== External links == |
Normocytic anemia | Normocytic anemia is a type of anemia and is a common issue that occurs for men and women typically over 85 years old. Its prevalence increases with age, reaching 44 percent in men older than 85 years. The most common type of normocytic anemia is anemia of chronic disease.
Classification
A normocytic anemia is when the red blood cells (RBCs) are of normal size. Normocytic anemia is defined when the mean corpuscular volume (MCV) is between 80 and 100 femtolitres (fL), which is within the normal and expected range. However, the hematocrit and hemoglobin are decreased. In contrast, microcytic anemias are defined as an anemia with a mean corpuscular volume (MCV) less than 80 fL and macrocytic anemias have a mean corpuscular volume over 100 fL.
Diagnosis
To aid with determining the underlying cause of the normocytic anemia, a lab test is done on reticulocyte count. A reticulocyte count that is high, normal or low will aid with the classification process. A high reticulocyte count signifies that bone marrow processes are normal. A low reticulocyte count would signify there is a problem at the level of the bone marrow, which produce the stem cells. Acute blood loss would result in a high reticulocyte count, as bone marrow processes are normal and the bone marrow responds accordingly to the bodys need for blood.
Causes
The issue is thought of as representing any of the following:
An acute loss of blood of a substantial volume;
a decreased production of normal-sized red blood cells (e.g., anemia of chronic disease, aplastic anemia);
an increased production of HbS as seen in sickle cell disease (not sickle cell trait);
an increased destruction or loss of red blood cells (e.g., hemolysis, posthemorrhagic anemia, hypersplenism);
an uncompensated increase in plasma volume (e.g., pregnancy, fluid overload);
a B2 (riboflavin) deficiency
a B6 (pyridoxine) deficiency
or a mixture of conditions producing microcytic and macrocytic anemia.Blood loss, suppressed production of RBCs or hemolysis represent most cases of normocytic anemia. In blood loss, morphologic findings are generally unremarkable, except after 12 to 24 hrs where polychromasia appears. For reduced production of RBCs, like with low erythropoietin, the RBC morphology is unremarkable. Patients with disordered RBC production, e.g. myelodysplastic syndrome, may have a dual population of elliptocytes, teardrop cells, or other poikilocytes as well as a nucleated RBCs. Hemolysis will often demonstrate poikilocytes specific to a cause or mechanism, e.g. bite cells and/or blister cells for oxidative hemolysis, acanthocytes for pyruvate kinase deficiency or McLeod phenotype, sickle cells for sickle cell anemia, spherocytes for immune-mediated hemolysis or hereditary spherocytosis, elliptocytosis for iron deficiency or hereditary elliptocytosis and schistocytes for intravascular hemolysis. Many hemolytic anemias show multiple poikilocytes such as G6PD deficiency, which may show blister and bites cells as well as shistocytes. Neonatal hemolysis may not follow the classic patterns as in adults.
Treatment
Treatment will depend on the cause of the normocytic anemia. Treatment for anemia due to chronic diseases, such as kidney disease, focus on healing the primary condition first. Dietary foods or supplements should be added if anemia is due to a lack of a particular vitamin. Erythropoietin may be considered if anemia is severe. Erythropoietin will stimulate the bone marrow to make more blood cells.
References
External links
Entry on aafp.org |
Neuroma | A neuroma (; plural: neuromata or neuromas) is a growth or tumor of nerve tissue. Neuromas tend to be benign (i.e. not cancerous); many nerve tumors, including those that are commonly malignant, are nowadays referred to by other terms.
Neuromas can arise from different types of nervous tissue, including the nerve fibers and their myelin sheath, as in the case of genuine neoplasms (growths) like ganglioneuromas and neurinomas.
The term is also used to refer to any swelling of a nerve, even in the absence of abnormal cell growth. In particular, traumatic neuroma results from trauma to a nerve, often during a surgical procedure. Mortons neuroma affects the foot.
Neuromas can be painful, or sometimes, as in the case of acoustic neuromas, can give rise to other symptoms.
Neoplasms
Acoustic neuroma - a slow-growing, benign tumor of the acoustic nerve. Symptoms, which most often start after the age of 30, can include dizziness, headache, vertigo, loss of balance, ringing sensations, and numbness.
Ganglioneuroma - a tumor of the sympathetic nerve fibers arising from neural crest cells.
Pacinian neuroma - a very rare, painful, benign hyperplastic tumor of Pacinian corpuscles (mechanoreceptors responsible for sensitivity to vibration and pressure), sometimes linked to a history of local trauma.
Other nerve swellings
Some of the benign varieties of neuroma, in the broadest sense of the term, are not neoplasms.
Traumatic neuroma follows different forms of nerve injury (often as a result of surgery). They occur at the end of injured nerve fibres as a form of ineffective, unregulated nerve regeneration; it occurs most commonly near a scar, either superficially (skin, subcutaneous fat) or deep (e.g., after a cholecystectomy). They are often very painful. Synonyms include scar neuroma, amputation neuroma, or pseudoneuroma.
Mortons neuroma (a mononeuropathy of the foot) is another example of the more general usage of the term neuroma. Some prefer the term "Mortons metatarsalgia", thus avoiding the term neuroma and its association with tumors.
Etymology
The stem neuro- originates from the Greek word for nerve (νεῦρον), while the suffix -oma (-ωμα) denotes swelling. The stem does not imply that neuromas necessarily arise from neurons; neuromas generally arise from non-neuronal nerve tissues. The word was originally used to refer to any nerve tumor, but its meaning has evolved.
== References == |
Culture shock | Culture shock is an experience a person may have when one moves to a cultural environment which is different from ones own; it is also the personal disorientation a person may feel when experiencing an unfamiliar way of life due to immigration or a visit to a new country, a move between social environments, or simply transition to another type of life. One of the most common causes of culture shock involves individuals in a foreign environment. Culture shock can be described as consisting of at least one of four distinct phases: honeymoon, negotiation, adjustment, and adaptation.
Common problems include: information overload, language barrier, generation gap, technology gap, skill interdependence, formulation dependency, homesickness (cultural), boredom (job dependency), ethnicity, race, skin color, response ability (cultural skill set). There is no true way to entirely prevent culture shock, as individuals in any society are personally affected by cultural contrasts differently.
Obergs four phases model
Kalervo Oberg first proposed his model of cultural adjustment in a talk to the Womens Club of Rio de Janeiro in 1954.
Honeymoon
During this period, the differences between the old and new culture are seen in a romantic light. For example, in moving to a new country, an individual might love the new food, the pace of life, and the locals habits. During the first few weeks, most people are fascinated by the new culture. They associate with nationals who speak their language, and who are polite to the foreigners. Like most honeymoon periods, this stage eventually ends.
Negotiation
After some time (usually around three months, depending on the individual), differences between the old and new culture become apparent and may create anxiety. Excitement may eventually give way to unpleasant feelings of frustration and anger as one continues to experience unfavorable events that may be perceived as strange and offensive to ones cultural attitude. Language barriers, stark differences in public hygiene, traffic safety, food accessibility and quality may heighten the sense of disconnection from the surroundings.While being transferred into a different environment puts special pressure on communication skills, there are practical difficulties to overcome, such as circadian rhythm disruption that often leads to insomnia and daylight drowsiness; adaptation of gut flora to different bacteria levels and concentrations in food and water; difficulty in seeking treatment for illness, as medicines may have different names from the native countrys and the same active ingredients might be hard to recognize.
Still, the most important change in the period is communication: People adjusting to a new culture often feel lonely and homesick because they are not yet used to the new environment and meet people with whom they are not familiar every day. The language barrier may become a major obstacle in creating new relationships: special attention must be paid to ones and others culture-specific body language signs, linguistic faux pas, conversation tone, linguistic nuances and customs, and false friends.
In the case of students studying abroad, some develop additional symptoms of loneliness that ultimately affect their lifestyles as a whole. Due to the strain of living in a different country without parental support, international students often feel anxious and feel more pressure while adjusting to new cultures—even more so when the cultural distances are wide, as patterns of logic and speech are different and a special emphasis is put on rhetoric.
Adjustment
Again, after some time (usually 6 to 12 months), one grows accustomed to the new culture and develops routines. One knows what to expect in most situations and the host country no longer feels all that new. One becomes concerned with basic living again, and things become more "normal". One starts to develop problem-solving skills for dealing with the culture and begins to accept the cultures ways with a positive attitude. The culture begins to make sense, and negative reactions and responses to the culture are reduced.
Adaptation
In the mastery stage individuals are able to participate fully and comfortably in the host culture. Mastery does not mean total conversion; people often keep many traits from their earlier culture, such as accents and languages. It is often referred to as the bicultural stage.
Development
Gary R. Weaver wrote that culture shock has "three basic causal explanations": loss of familiar cues, the breakdown of interpersonal communications, and an identity crisis. Peter S. Adler emphasized the psychological causes. Tema Milstein wrote that it can have positive effects.
Reverse culture shock
Reverse culture shock (also known as "re-entry shock" or "own culture shock") may take place—returning to ones home culture after growing accustomed to a new one can produce the same effects as described above. These are results from the psychosomatic and psychological consequences of the readjustment process to the primary culture. The affected person often finds this more surprising and difficult to deal with than the original culture shock. This phenomenon, the reactions that members of the re-entered culture exhibit toward the re-entrant, and the inevitability of the two are encapsulated in the following saying, also the title of a book by Thomas Wolfe: You Cant Go Home Again.
Reverse culture shock is generally made up of two parts: idealization and expectations. When an extended period of time is spent abroad we focus on the good from our past, cut out the bad, and create an idealized version of the past. Secondly, once removed from our familiar setting and placed in a foreign one we incorrectly assume that our previous world has not changed. We expect things to remain exactly the same as when we left them. The realization that life back home is now different, that the world has continued without us, and the process of readjusting to these new conditions as well as actualizing our new perceptions about the world with our old way of living causes discomfort and psychological anguish.
Outcomes
There are three basic outcomes of the adjustment phase:
Some people find it impossible to accept the foreign culture and to integrate. They isolate themselves from the host countrys environment, which they come to perceive as hostile, withdraw into an (often mental) "ghetto" and see return to their own culture as the only way out. This group is sometimes known as "Rejectors" and describes approximately 60% of expatriates. These "Rejectors" also have the greatest problems re-integrating back home after return.
Some people integrate fully and take on all parts of the host culture while losing their original identity. This is called cultural assimilation. They normally remain in the host country forever. This group is sometimes known as "Adopters" and describes approximately 10% of immigrants.
Some people manage to adapt to the aspects of the host culture they see as positive, while keeping some of their own and creating their unique blend. They have no major problems returning home or relocating elsewhere. This group can be thought to be cosmopolitan. Approximately 30% of immigrants belong to this group.Culture shock has many different effects, time spans, and degrees of severity. Many people are hampered by its presence and do not recognize why they are bothered.There is evidence to suggest that the psychological influence of culture shock might also have physiological implications. For example, the psycho-social stress experienced during these circumstances is correlated with an early onset of puberty.
Transition shock
Culture shock is a subcategory of a more universal construct called transition shock. Transition shock is a state of loss and disorientation predicated by a change in ones familiar environment that requires adjustment. There are many symptoms of transition shock, including:
Anger
Boredom
Compulsive eating/drinking/weight gain
Desire for home and old friends
Excessive concern over cleanliness
Excessive sleep
Feelings of helplessness and withdrawal
Getting "stuck" on one thing
Glazed stare
Homesickness
Hostility towards host nationals
Impulsivity
Irritability
Mood swings
Physiological stress reactions
Stereotyping host nationals
Suicidal or fatalistic thoughts
Withdrawal
See also
Cultural conflict
Cultural cringe
Cultural intelligence
Cultural schema theory
Expatriate
Fresh off the boat
Future Shock
Intercultural communication
Jetlag
Neophobia
Outsourced (film)
Paris syndrome
Student exchange program
Xenophobia
== References == |
Accessory pancreas | Accessory pancreas is a rare condition in which small groups of pancreatic cells are separate from the pancreas. They may occur in the mesentery of the small intestine, the wall of the duodenum, the upper part of the jejunum, or more rarely, in the wall of the stomach, ileum, gallbladder or spleen. The condition was first described by Klob in 1859.Accessory pancreas is a small cluster of pancreas cells detached from the pancreas and sometimes found in the wall of the stomach or intestines.
Diagnosis
Pancreatic disorders are often accompanied by weakness and fatigue. The past Medical history may reveal previous disorders of the biliary tract or duodenum, abdominal trauma or surgery, and metabolic disorders such as diabetes mellitus. The medication history should be detailed and specifically include the use of thiazides, furosemide, estrogens, corticosteroids, sulfonamides, and opiates. Note a family history of pancreatic disorders. In the review of systems, obtain a complete description of any pain in the upper abdomen or epigastric area. Symptoms that may be important in relation to pancreatic disorders are pruritus, abdominal pain, dyspnea, nausea, and vomiting. The functional assessment includes data about the patients dietary habits and use of alcohol.
Note any restlessness, flushing, or diaphoresis during the examination. Vital signs may disclose low-grade fever, tachypnea, tachycardia, and hypotension. Inspect the skin for jaundice. Assess the abdomen for distention, tenderness, discoloration, and diminished bowel sounds.
Tests and procedures used to diagnose pancreatic disorders include laboratory analyses of blood, urine, stool, and pancreatic fluid, and imaging studies. Specific blood studies used to assess pancreatic function include measurements of serum amylase, lipase, glucose, calcium, and triglyceride levels. Urine amylase and renal amylase clearance tests may also be ordered. Stool specimens may be analyzed for fat content. The secretin stimulation test measures the bicarbonate concentration of pancreatic fluid after secretin is given intravenously to stimulate the production of pancreatic fluid.
Treatment
Treatment of accessory pancreas depends on the location and extent of the injured tissue. Surgery may be an option, or some physicians order prophylactic antibiotics.
References
== External links == |
Thirst | Thirst is the craving for potable fluids, resulting in the basic instinct of animals to drink. It is an essential mechanism involved in fluid balance. It arises from a lack of fluids or an increase in the concentration of certain osmolites, such as sodium. If the water volume of the body falls below a certain threshold or the osmolite concentration becomes too high, structures in the brain detect changes in blood constituents and signal thirst.Continuous dehydration can cause acute and chronic diseases, but is most often associated with renal and neurological disorders. Excessive thirst, called polydipsia, along with excessive urination, known as polyuria, may be an indication of diabetes mellitus or diabetes insipidus.
There are receptors and other systems in the body that detect a decreased volume or an increased osmolite concentration. Some sources distinguish "extracellular thirst" from "intracellular thirst", where extracellular thirst is thirst generated by decreased volume and intracellular thirst is thirst generated by increased osmolite concentration.
Detection
It is vital for organisms to be able to maintain their fluid levels in very narrow ranges. The goal is to keep the interstitial fluid, the fluid outside the cell, at the same concentration as the intracellular fluid, the fluid inside the cell. This condition is called isotonic and occurs when the same levels of solutes are present on either side of the cell membrane so that the net water movement is zero. If the interstitial fluid has a higher concentration of solutes (or a lower concentration of water) than the intracellular fluid, it will pull water out of the cell. This condition is called hypertonic and if enough water leaves the cell, it will not be able to perform essential chemical functions. The animal will then become thirsty in response to the demand for water in the cell. After the animal drinks water, the interstitial fluid becomes less concentrated of solutes (more concentrated of water) than the intracellular fluid and the cell will fill with water as it tries to equalize the concentrations. This condition is called hypotonic and can be dangerous because it can cause the cell to swell and rupture. One set of receptors responsible for thirst detects the concentration of interstitial fluid. The other set of receptors detects blood volume.
Decreased volume
This is one of two types of thirst and is defined as thirst caused by loss of blood volume (hypovolemia) without depleting the intracellular fluid. This can be caused by blood loss, vomiting, and diarrhea. This loss of volume is problematic because if the total blood volume falls too low the heart cannot circulate blood effectively and the eventual result is hypovolemic shock. The vascular system responds by constricting blood vessels thereby creating a smaller volume for the blood to fill. This mechanical solution, however, has definite limits and usually must be supplemented with increased volume. The loss of blood volume is detected by cells in the kidneys and triggers thirst for both water and salt via the renin-angiotensin system.
Renin-angiotensin system
Hypovolemia leads to activation of the renin angiotensin system (RAS) and is detected by cells in the kidney. When these cells detect decreased blood flow due to the low volume they secrete an enzyme called renin. Renin then enters the blood where it catalyzes a protein called angiotensinogen to angiotensin I. Angiotensin I is then almost immediately converted by an enzyme already present in the blood to the active form of the protein, angiotensin II. Angiotensin II then travels in the blood until it reaches the posterior pituitary gland and the adrenal cortex, where it causes a cascade effect of hormones that cause the kidneys to retain water and sodium, increasing blood pressure. It is also responsible for the initiation of drinking behavior and salt appetite via the subfornical organ.
Others
Arterial baroreceptors sense a decreased arterial pressure, and signal to the central nervous system in the area postrema and nucleus tractus solitarii.
Cardiopulmonary receptors sense a decreased blood volume, and signal to area postrema and nucleus tractus solitarii.
Cellular dehydration and osmoreceptor stimulation
Osmometric thirst occurs when the solute concentration of the interstitial fluid increases. This increase draws water out of the cells, and they shrink in volume. The solute concentration of the interstitial fluid increases by high intake of sodium in diet or by the drop in volume of extracellular fluids (such as blood plasma and cerebrospinal fluid) due to loss of water through perspiration, respiration, urination and defecation. The increase in interstitial fluid solute concentration causes water to migrate from the cells of the body, through their membranes, to the extracellular compartment, by osmosis, thus causing cellular dehydration.Clusters of cells (osmoreceptors) in the organum vasculosum of the lamina terminalis (OVLT) and subfornical organ (SFO), which lie outside of the blood brain barrier can detect the concentration of blood plasma and the presence of angiotensin II in the blood. They can then activate the median preoptic nucleus which initiates water seeking and ingestive behavior. Destruction of this part of the hypothalamus in humans and other animals results in partial or total loss of desire to drink even with extremely high salt concentration in the extracellular fluids. In addition, there are visceral osmoreceptors which project to the area postrema and nucleus tractus solitarii in the brain.
Salt craving
Because sodium is also lost from the plasma in hypovolemia, the bodys need for salt proportionately increases in addition to thirst in such cases. This is also a result of the renin-angiotensin system activation.
Elderly
In adults over the age of 50 years, the bodys thirst sensation reduces and continues diminishing with age, putting this population at increased risk of dehydration. Several studies have demonstrated that elderly persons have lower total water intakes than younger adults, and that women are particularly at risk of too low an intake.
In 2009, the European Food Safety Authority (EFSA) included water as a macronutrient in its dietary reference values for the first time. Recommended intake volumes in the elderly are the same as for younger adults (2.0 L/day for females and 2.5 L/day for males) as despite lower energy consumption, the water requirement of this group is increased due to a reduction in renal concentrating capacity.
Thirst quenching
According to preliminary research, quenching of thirst – the homeostatic mechanism to stop drinking – occurs via two neural phases: a "preabsorptive" phase which signals quenched thirst many minutes before fluid is absorbed from the stomach and distributed to the body via the circulation, and a "postabsorptive" phase which is regulated by brain structures sensing to terminate fluid ingestion. The preabsorptive phase relies on sensory inputs in the mouth, pharynx, esophagus, and upper gastrointestinal tract to anticipate the amount of fluid needed, providing rapid signals to the brain to terminate drinking when the assessed amount has been consumed. The postabsorptive phase occurs via blood monitoring for osmolality, fluid volume, and sodium balance, which are collectively sensed in brain circumventricular organs linked via neural networks to terminate thirst when fluid balance is established.Thirst quenching varies among animal species, with dogs, camels, sheep, goats, and deer replacing fluid deficits quickly when water is available, whereas humans and horses may need hours to restore fluid balance.
Neurophysiology
The areas of the brain that contribute to the sense of thirst are mainly located in the midbrain and the hindbrain. Specifically, the hypothalamus appears to play a key role in the regulation of thirst.
The area postrema and nucleus tractus solitarii signal to the subfornical organ and to the lateral parabrachial nucleus. The latter signaling relies on the neurotransmitter serotonin. The signal from the lateral parabrachial nucleus is relayed to the median preoptic nucleus.The median preoptic nucleus and the subfornical organ receive signals of decreased volume and increased osmolite concentration. Finally, the signals are received in cortex areas of the forebrain where thirst arises. The subfornical organ and the organum vasculosum of the lamina terminalis contribute to regulating the overall bodily fluid balance by signalling to the hypothalamus to form vasopressin, which is later released by the pituitary gland.
See also
References
Further reading
"Scientists Identify Thirst-Controlling Neurons". National Institutes of Health (NIH). Retrieved 2016-02-11. |
Gardners syndrome | Gardners syndrome (also known as Gardner syndrome, familial polyposis of the colon, or familial colorectal polyposis) is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.
Desmoid tumors are fibrous tumors that usually occur in the tissue covering the intestines and may be provoked by surgery to remove the colon. The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery, and small bowel. In a small number of cases, polyps have also appeared in the cerebellum. Cancers related to Gardner syndrome commonly appear in the thyroid, liver and kidneys. The number of polyps increases with age, and hundreds to thousands of polyps can develop in the colon.
The syndrome was first described in 1951. There is no cure at this time, and in its more advanced forms, it is considered a terminal diagnosis with a life expectancy of 35–45 years; treatments are surgery and palliative care, although some chemotherapy has been tried with limited success.
Cause
Gardner syndrome is caused by mutation in the adenomatous polyposis coli (APC gene), located in chromosome 5q21 (band q21 on chromosome 5). This gene is also mutant in familial adenomatous polyposis (FAP), a more common disease that also predisposes to colon cancer. Nuances in the understanding of genetics have caused some disorders to be split into multiple entities, while others merged into one genetic condition. After most of the second half of the 20th century, Gardner syndrome has been merged into FAP and is now considered simply a phenotypic subtype of FAP. FAP defined by the development of hundreds or thousands of polyps in the colon. Gardner syndrome is set apart as a subtype because, in addition to colonic polyps, there are also extra-colonic growths (both malignant and benign). There are many terms used to describe "APC-associated polyposis condition" including FAP, attenuated FAP, Gardner syndrome, Turcot syndrome, and gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS). There is a movement toward no longer using the terms Gardner Syndrome or Turcot Syndrome since both are part of the FAP spectrum. Gardner syndrome and Turcot syndrome are regarded primarily for historical interest.
Genetics
Gardner syndrome is inherited in an autosomal dominant manner. Typically, one parent has Gardner syndrome. Each of their children, male and female alike, are at 50% risk of inheriting the gene for Gardner syndrome.
Diagnosis
Gardner syndrome consists of adenomatous polyps of the gastrointestinal tract, Gardner fibromas, desmoid tumors, osteomas, epidermoid cysts, lipomas, dental abnormalities, and periampullary carcinomas. The incidence of the syndrome is 1:14,025 with an equal sex distribution. It is determined by the autosomal dominant familial polyposis coli gene (APC) on chromosome 5.Gardner syndrome can be identified based on oral findings, including multiple impacted and supernumerary teeth, multiple jaw osteomas that give a "cotton-wool" appearance to the jaws, as well as multiple odontomas, congenital hypertrophy of the retinal pigment epithelium (CHRPE), in addition to multiple adenomatous polyps of the colon. Gardner syndrome is also associated with familial adenomatous polyposis and may manifest as aggressive fibromatosis (desmoid tumors) of the retroperitoneum.Desmoid tumors arise most frequently from the aponeurosis of the rectus abdominal muscle of multiparous women. The extra-abdominal form is rare and desmoids of the breast may arise in the mammary gland or may occur as an extension of a lesion arising from the muscles of the chest wall. The incidence of mammary desmoid tumors is less than 0.2% of primary breast neoplasms. In Gardners syndrome, the incidence ranges from 4% to 17%. Desmoid tumors associated with Gardners syndrome have been shown to have an alteration of the β-catenin pathway and over express β-catenin.
Treatment
There is no cure for Gardner Syndrome. Treatments focus on alleviating symptoms and reducing risk of cancer. Treatments for desmoid tumors may include surgery, NSAIDS, anti-estrogen medications, radiation therapy and chemotherapy.
Eponym
The syndrome is named for Eldon J. Gardner (1909–1989), a geneticist who first described it in 1951.
See also
Gorlin syndrome
List of cutaneous conditions
List of dental abnormalities associated with cutaneous conditions
List of cutaneous neoplasms associated with systemic syndromes
References
External links
Gardner syndrome at NIHs Office of Rare Diseases |
Glanders | Glanders is a contagious zoonotic infectious disease that occurs primarily in horses, mules, and donkeys. It can be contracted by other animals, such as dogs, cats, pigs, goats, and humans. It is caused by infection with the bacterium Burkholderia mallei.
Glanders is endemic in Africa, Asia, the Middle East, and Central and South America. It has been eradicated from North America, Australia, and most of Europe through surveillance and destruction of affected animals, and import restrictions. Glanders has not been reported in the United States since 1945, except in 2000, when an American lab researcher had an accidental exposure in the lab. It is a notifiable disease in the UK, although it has not been reported there since 1928.
The term is from Middle English glaundres or Old French glandres, both meaning glands. Other terms include Latin: malleus, Spanish: muermo, German: Rotz and Norwegian: snive.
Presentation
Signs of glanders include the formation of nodular lesions in the lungs and ulceration of the mucous membranes in the upper respiratory tract. The acute form results in coughing, fever, and the release of an infectious nasal discharge, followed by septicaemia and death within days. In the chronic form, nasal and subcutaneous nodules develop, eventually ulcerating; death can occur within months, while survivors act as carriers.
Cause and transmission
Glanders is caused by infection with the Burkholderia mallei, usually by ingestion of contaminated feed or water. B. mallei is able to infect humans, so it is classed as a zoonotic agent. Transmission occurs by direct contact with infected animals body fluid and tissues and entry is through skin abrasions, nasal and oral mucosal surfaces, or inhalation.
Diagnosis
The mallein test is a sensitive and specific clinical test for glanders. Mallein (ATCvet code: QI05AR01 (WHO)), a protein fraction of the glanders organism (B. mallei), is injected intradermopalpebrally or given by eye drop. In infected animals, the eyelid swells markedly in 1 to 2 days.
Historical cases and potential use in war
Glanders has been known since antiquity, with a description by Hippocrates around 425 BCE. However, historian Lise Wilkinson has described the incredible difficulty of studying outbreaks of glanders in history.From the Middle Ages to the 1900s, glanders was a significant threat to armies. Before the Battle of Blenheim in 1704, glanders may have afflicted and greatly diminished the horses of Marshal Tallards cavalry, helping the Duke of Marlborough win the battle.Glanders was a significant problem for civilian use of horses, as well. In the 18th-century veterinary hospital at the École Nationale Vétérinaire dAlfort, glanders was the most common disease among their equine patients and the one most likely to cause death.Due to the high mortality rate in humans and the small number of organisms required to establish infection, B. mallei is regarded as a potential biological warfare or bioterrorism agent, as is the closely related organism, B. pseudomallei, the causative agent of melioidosis. During World War I, glanders was believed to have been spread deliberately by German agents to infect large numbers of Russian horses and mules on the Eastern Front. Other agents attempted to introduce the disease in the United States and Argentina. This had an effect on troop and supply convoys, as well as on artillery movement, which were dependent on horses and mules. Human cases in Russia increased with the infections during and after WWI. The Japanese deliberately infected horses, civilians, and prisoners of war with B. mallei at the Unit 731 Pingfang (China) Institute and Unit 100 facilities during World War II. The U.S. studied this agent as a possible biological weapon in 1943–44, but did not weaponize it. U.S. interest in glanders (agent LA) continued through the 1950s, except it had an inexplicable tendency to lose virulence in the lab, making it difficult to weaponize. Between 1982 and 1984, the Soviet Union allegedly used weaponized B. mallei during the Soviet–Afghan War.
Vaccine research
No vaccine is licensed for use in the U.S. Infection with these bacteria results in nonspecific symptoms and can be either acute or chronic, impeding rapid diagnosis. The lack of a vaccine for either bacterium also makes them potential candidates for bioweaponization. Together, with their high rate of infectivity by aerosols and resistance to many common antibiotics, both bacteria have been classified as category B priority pathogens by the US NIH and US CDC, which has spurred a dramatic increase in interest in these microorganisms. Attempts have been made to develop vaccines for these infections, which would not only benefit military personnel, a group most likely to be targeted in an intentional release, but also individuals who may come in contact with glanders-infected animals or live in areas where melioidosis is endemic.
References
External links
CDC list of articles on glanders
Current status of Glanders worldwide at OIE. WAHID Interface - OIE World Animal Health Information Database
Disease card Archived 2014-10-10 at the Wayback Machine
Animal health aspects of glanders
Center for Biosecurity Agent Fact Sheet
Burkholderia mallei genomes and related information at PATRIC, a Bioinformatics Resource Center funded by NIAID
Notes On Glander Disease in Horse |
Carotene | The term carotene (also carotin, from the Latin carota, "carrot") is used for many related unsaturated hydrocarbon substances having the formula C40Hx, which are synthesized by plants but in general cannot be made by animals (with the exception of some aphids and spider mites which acquired the synthesizing genes from fungi). Carotenes are photosynthetic pigments important for photosynthesis. Carotenes contain no oxygen atoms. They absorb ultraviolet, violet, and blue light and scatter orange or red light, and (in low concentrations) yellow light.
Carotenes are responsible for the orange colour of the carrot, after which this class of chemicals is named, and for the colours of many other fruits, vegetables and fungi (for example, sweet potatoes, chanterelle and orange cantaloupe melon). Carotenes are also responsible for the orange (but not all of the yellow) colours in dry foliage. They also (in lower concentrations) impart the yellow coloration to milk-fat and butter. Omnivorous animal species which are relatively poor converters of coloured dietary carotenoids to colourless retinoids have yellowed-coloured body fat, as a result of the carotenoid retention from the vegetable portion of their diet. The typical yellow-coloured fat of humans and chickens is a result of fat storage of carotenes from their diets.
Carotenes contribute to photosynthesis by transmitting the light energy they absorb to chlorophyll. They also protect plant tissues by helping to absorb the energy from singlet oxygen, an excited form of the oxygen molecule O2 which is formed during photosynthesis.
β-Carotene is composed of two retinyl groups, and is broken down in the mucosa of the human small intestine by β-carotene 15,15-monooxygenase to retinal, a form of vitamin A. β-Carotene can be stored in the liver and body fat and converted to retinal as needed, thus making it a form of vitamin A for humans and some other mammals. The carotenes α-carotene and γ-carotene, due to their single retinyl group (β-ionone ring), also have some vitamin A activity (though less than β-carotene), as does the xanthophyll carotenoid β-cryptoxanthin. All other carotenoids, including lycopene, have no beta-ring and thus no vitamin A activity (although they may have antioxidant activity and thus biological activity in other ways).
Animal species differ greatly in their ability to convert retinyl (beta-ionone) containing carotenoids to retinals. Carnivores in general are poor converters of dietary ionone-containing carotenoids. Pure carnivores such as ferrets lack β-carotene 15,15-monooxygenase and cannot convert any carotenoids to retinals at all (resulting in carotenes not being a form of vitamin A for this species); while cats can convert a trace of β-carotene to retinol, although the amount is totally insufficient for meeting their daily retinol needs.
Molecular structure
Carotenes are polyunsaturated hydrocarbons containing 40 carbon atoms per molecule, variable numbers of hydrogen atoms, and no other elements. Some carotenes are terminated by rings, on one or both ends of the molecule. All are coloured, due to the presence of conjugated double bonds. Carotenes are tetraterpenes, meaning that they are derived from eight 5-carbon isoprene units (or four 10-carbon terpene units).
Carotenes are found in plants in two primary forms designated by characters from the Greek alphabet: alpha-carotene (α-carotene) and beta-carotene (β-carotene). Gamma-, delta-, epsilon-, and zeta-carotene (γ, δ, ε, and ζ-carotene) also exist. Since they are hydrocarbons, and therefore contain no oxygen, carotenes are fat-soluble and insoluble in water (in contrast with other carotenoids, the xanthophylls, which contain oxygen and thus are less chemically hydrophobic).
History
The discovery of carotene from carrot juice is credited to Heinrich Wilhelm Ferdinand Wackenroder, a finding made during a search for antihelminthics, which he published in 1831. He obtained it in small ruby-red flakes soluble in ether, which when dissolved in fats gave a beautiful yellow colour. William Christopher Zeise recognised its hydrocarbon nature in 1847, but his analyses gave him a composition of C5H8. It was Léon-Albert Arnaud in 1886 who confirmed its hydrocarbon nature and gave the formula C26H38, which is close to the theoretical composition of C40H56. Adolf Lieben in studies, also published in 1886, of the colouring matter in corpora lutea, first came across carotenoids in animal tissue, but did not recognise the nature of the pigment. Johann Ludwig Wilhelm Thudichum, in 1868–1869, after stereoscopic spectral examination, applied the term luteine(lutein) to this class of yellow crystallizable substances found in animals and plants. Richard Martin Willstätter, who gained the Nobel Prize in Chemistry in 1915, mainly for his work on chlorophyll, assigned the composition of C40H56, distinguishing it from the similar but oxygenated xanthophyll, C40H56O2. With Heinrich Escher, in 1910, lycopene was isolated from tomatoes and shown to be an isomer of carotene. Later work by Escher also differentiated the luteal pigments in egg yolk from that of the carotenes in cow corpus luteum.
Dietary sources
The following foods contain carotenes in notable amounts:
Absorption from these foods is enhanced if eaten with fats, as carotenes are fat soluble, and if the food is cooked for a few minutes until the plant cell wall splits and the color is released into any liquid. 12 μg of dietary β-carotene supplies the equivalent of 1 μg of retinol, and 24 µg of α-carotene or β-cryptoxanthin provides the equivalent of 1 µg of retinol.
Forms of carotene
The two primary isomers of carotene, α-carotene and β-carotene, differ in the position of a double bond (and thus a hydrogen) in the cyclic group at one end (the right end in the diagram at right).
β-Carotene is the more common form and can be found in yellow, orange, and green leafy fruits and vegetables. As a rule of thumb, the greater the intensity of the orange colour of the fruit or vegetable, the more β-carotene it contains.
Carotene protects plant cells against the destructive effects of ultraviolet light so β-Carotene is an antioxidant.
β-Carotene and physiology
β-Carotene and cancer
An article on the American Cancer Society says that The Cancer Research Campaign has called for warning labels on β-carotene supplements to caution smokers that such supplements may increase the risk of lung cancer.The New England Journal of Medicine published an article in 1994 about a trial which examined the relationship between daily supplementation of β-carotene and vitamin E (α-tocopherol) and the incidence of lung cancer. The study was done using supplements and researchers were aware of the epidemiological correlation between carotenoid-rich fruits and vegetables and lower lung cancer rates. The research concluded that no reduction in lung cancer was found in the participants using these supplements, and furthermore, these supplements may, in fact, have harmful effects.
The Journal of the National Cancer Institute and The New England Journal of Medicine published articles in 1996 about a trial with a goal to determine if vitamin A (in the form of retinyl palmitate) and β-carotene (at about 30 mg/day, which is 10 times the Reference Daily Intake) supplements had any beneficial effects to prevent cancer. The results indicated an increased risk of lung and prostate cancers for the participants who consumed the β-carotene supplement and who had lung irritation from smoking or asbestos exposure, causing the trial to be stopped early.A review of all randomized controlled trials in the scientific literature by the Cochrane Collaboration published in JAMA in 2007 found that synthetic β-carotene increased mortality by 1-8 % (Relative Risk 1.05, 95% confidence interval 1.01–1.08). However, this meta-analysis included two large studies of smokers, so it is not clear that the results apply to the general population. The review only studied the influence of synthetic antioxidants and the results should not be translated to potential effects of fruits and vegetables.
β-Carotene and photosensitivity
Oral β-carotene is prescribed to people suffering from erythropoietic protoporphyria. It provides them some relief from photosensitivity.
Carotenemia
Carotenemia or hypercarotenemia is excess carotene, but unlike excess vitamin A, carotene is non-toxic. Although hypercarotenemia is not particularly dangerous, it can lead to an oranging of the skin (carotenodermia), but not the conjunctiva of eyes (thus easily distinguishing it visually from jaundice). It is most commonly associated with consumption of an abundance of carrots, but it also can be a medical sign of more dangerous conditions.
Production
Carotenes are produced in a general manner for other terpenoids and terpenes, i.e. by coupling, cyclization, and oxygenation reactions of isoprene derivatives. Lycopene is the key precursor to carotenoids. It is formed by coupling of geranylgeranyl pyrophosphate and[geranyllinalyl pyrophosphate.Most of the worlds synthetic supply of carotene comes from a manufacturing complex located in Freeport, Texas and owned by DSM. The other major supplier BASF also uses a chemical process to produce β-carotene. Together these suppliers account for about 85% of the β-carotene on the market. In Spain Vitatene produces natural β-carotene from fungus Blakeslea trispora, as does DSM but at much lower amount when compared to its synthetic β-carotene operation. In Australia, organic β-carotene is produced by Aquacarotene Limited from dried marine algae Dunaliella salina grown in harvesting ponds situated in Karratha, Western Australia. BASF Australia is also producing β-carotene from microalgae grown in two sites in Australia that are the worlds largest algae farms. In Portugal, the industrial biotechnology company Biotrend is producing natural all-trans-β-carotene from a non-genetically-modified bacteria of the genus Sphingomonas isolated from soil.
Carotenes are also found in palm oil, corn, and in the milk of dairy cows, causing cows milk to be light yellow, depending on the feed of the cattle, and the amount of fat in the milk (high-fat milks, such as those produced by Guernsey cows, tend to be yellower because their fat content causes them to contain more carotene).
Carotenes are also found in some species of termites, where they apparently have been picked up from the diet of the insects.
Synthesis
There are currently two commonly used methods of total synthesis of β-carotene. The first was developed by BASF and is based on the Wittig reaction with Wittig himself as patent holder:
The second is a Grignard reaction, elaborated by Hoffman-La Roche from the original synthesis of Inhoffen et al. They are both symmetrical; the BASF synthesis is C20 + C20, and the Hoffman-La Roche synthesis is C19 + C2 + C19.
Nomenclature
Carotenes are carotenoids containing no oxygen. Carotenoids containing some oxygen are known as xanthophylls.
The two ends of the β-carotene molecule are structurally identical, and are called β-rings. Specifically, the group of nine carbon atoms at each end form a β-ring.
The α-carotene molecule has a β-ring at one end; the other end is called an ε-ring. There is no such thing as an "α-ring".
These and similar names for the ends of the carotenoid molecules form the basis of a systematic naming scheme, according to which:
α-carotene is β,ε-carotene;
β-carotene is β,β-carotene;
γ-carotene (with one β ring and one uncyclized end that is labelled psi) is β,ψ-carotene;
δ-carotene (with one ε ring and one uncyclized end) is ε,ψ-carotene;
ε-carotene is ε,ε-carotene
lycopene is ψ,ψ-caroteneζ-Carotene is the biosynthetic precursor of neurosporene, which is the precursor of lycopene, which, in turn, is the precursor of the carotenes α through ε.
Food additive
Carotene is used to colour products such as juice, cakes, desserts, butter and margarine. It is approved for use as a food additive in the EU (listed as additive E160a) Australia and New Zealand (listed as 160a) and the US.
See also
Antioxidant
References
External links
Carotene at the US National Library of Medicine Medical Subject Headings (MeSH) |
Leptomeningeal cancer | Leptomeningeal cancer (also called leptomeningeal carcinomatosis, leptomeningeal disease (LMD), leptomeningeal metastasis, neoplastic meningitis, meningeal metastasis and meningeal carcinomatosis) is a rare complication of cancer in which the disease spreads from the original tumor site to the meninges surrounding the brain and spinal cord. This leads to an inflammatory response, hence the alternative names neoplastic meningitis (NM), malignant meningitis, or carcinomatous meningitis. The term leptomeningeal (from the Greek lepto, meaning fine or slight) describes the thin meninges, the arachnoid and the pia mater, between which the cerebrospinal fluid is located. The disorder was originally reported by Eberth in 1870.It occurs with cancers that are most likely to spread to the central nervous system. The most common cancers to include the leptomeninges are breast cancer, lung cancer, and melanomas because they can metastasize to the subarachnoid space in the brain which offers a hospitable environment for the growth of metastatic tumor cells. Individuals whose cancer has spread to an area of the brain known as the posterior fossa have a greater risk of developing a leptomeningeal cancer. The condition can also arise from primary brain tumor like medulloblastoma.
Leptomeningeal disease is becoming more evident because cancer patients are living longer and many chemotherapies cannot reach sufficient concentrations in the spinal fluid to kill the tumor cells.
Signs and symptoms
The most common symptoms of leptomeningeal cancer is pain and seizures. The other symptoms may include headaches (usually associated with nausea, vomiting, light-headedness), gait difficulties from weakness or ataxia, memory problems, incontinence, sensory abnormalities. In some cases, symptoms may include double vision, numb chin, back pain, leg weakness, sphincter-related problems, hydrocephalus, loss of urine control, and difficulty walking. Depending on where the tumor cells settle, leptomeningeal cancer can cause almost any neurological problem. Other symptoms that are less common cranial nerve abnormalities, spinal symptoms such as limb weakness and paresthesia, and bowel and bladder dysfunction. Diplopia is the most common symptom of cranial nerve dysfunction. Trigeminal sensory or motor loss, cochlear dysfunction, and optic neuropathy are also common findings. Spinal signs and symptoms include weakness, dermatomal or segmental sensory loss, and pain in the neck, back, or following radicular patterns.3 affected domains of neurological function:
Cerebral hemisphere (15%)
Cranial Nerves (35%)
Spinal cord and roots (60%)Signs reported:
headache
mental status change
confusion
cognitive impairment
seizures
hemiparesis
gait instability
Related Diseases
Parenchymal Disease occurs in 30-40% of those diagnosed with NM. The disease associated with the main functioning body of an organ, in this case the brain.
acute cerebellar ataxia is a rare initial presenting feature of NM, particularly in gastric cancer. Paraneoplastic cerebellar degeneration (PCD) is a well-known cause of cerebellar ataxia associated with neoplastic disorders, and commonly, with positivity for various anti-neuronal antibodies.
Bilateral sensorineural hearing loss caused by complications with the vestibulocochlear nerves from onset of NM
Subacute Confusion: when functioning of the brain such as cognition deteriorates but at a less rapid rate than that of acute confusion
Causes
Leptomeningeal carcinomatosis occurs when the cancer cells invade the cerebrospinal fluid and spread throughout the central nervous system. The metastatic tumor cells grow either attached to the pia mater covering the brain and spinal cord or floating unattached to the subarachnoid space. Tumors of diverse origins and hematologic cancers may spread to this space.Some patients can develop a leptomeningeal tumor while receiving chemotherapy for their primary tumor.
Pathology
There are three anatomic patterns by which the tumor can spread in the subarachnoid space. More than one pattern may coexist in the same patient.First, there may be plaque-like deposits of cells in the leptomeninges with invasion of Virchow-Robin spaces and, usually, the shedding of tumor cells into the cerebrospinal fluid.Second, there may only be a thin coating of meninges, in some cases with only a single cell layer, but also with shedding of tumor cells into the cerebrospinal fluid. Third, there may be a pattern of nodular deposits of tumor on cranial and spinal nerve roots, frequently without tumor cells being shed into the cerebrospinal fluid.The first and third patterns are common in solid tumors whereas the second occurs most frequently with leukemia and lymphoma.
Spinal cord
Neoplastic meningitis (NM) shows diffuse infiltration of tumor cells into the subarachnoid space which may be associated with increased intracranial pressure, signs of meningeal irritation, and damage to the cranial and spinal nerve roots. Pathological feature include:
Circular necrosis of the white matter in the periphery of the spinal cord was also noted which probably resulted from circulatory disturbance secondary to tumor infiltration.
Dorsal radiculopathy which is secondary ascending degeneration of the posterior funiculus may also occur due to malignant cells collecting or a presence of tumor which cause compression of the nerve.
Tumor cell proliferation is observed around nerve roots as well as loss of myelinated nerve fibers and axonal swelling. In areas of tumor cells, infiltration of macrophages is observed. Nerve root infiltration has shown positive correlation with meningeal dissemination.
Infiltration of the spinal cord parenchyma is found with destruction of the pia mater. Tumor cell infiltration is associated with spongy changes in the white matter of the spinal cord beneath the pia mater with demyelination, axonal swelling, and macrophage infiltration. Transverse necrosis of the spinal cord is usually marked with bleeding from tumor growth in the subarachnoid space and is the result of compression by the hematoma in the subarachnoid space.
From primary cancer to the meninges
NM is a secondary cancer meaning that it is the result of neoplastic cells that have metastasized from a primary cancer site. These cancers develop an enzyme that is able to break down blood vessels at a microscopic level. These cells enter the blood vessels and travel across the body. Once the brain is reached, they break down the blood–brain barrier to enter the Cerebrospinal Fluid (CSF). There the cancerous cells seed and disseminate into the leptomeninges which are composed of the arachnoid and the pia. The CSF continues to carry neoplastic cells through the brain tracts and spreads the cancerous cells.Lung cancer, breast cancer, and malignant melanoma comprise the majority of solid tumors spreading to the leptomeninges. Although rare, meningeal carcinomatosis can arise from cervical cancer. Only eight cases of MC arising from squamous cell carcinoma of the uterine cervix are previously reported in the literature.Since NM is a result of primary cancer metastasis and can develop from primary brain tumors or parenchymal metastasis when tumor cells are lodged in small central nervous system (CNS) vasculature, causing local ischemia and vessel damage which result in tumor spillage into the Virchow-Robin spaces and providing access to the subarachnoid space.
Invasion routes
Hematogenous spread, or spread through blood vessels, occurs either through the venous plexus of Batson or by arterial dissemination. This occurs with arterioles as a result of tumor cells being lodged in vessels that feed the meninges and later causing leakage into the meninges and CSF. This same situation also appear with spinal arteries where leakage of tumor cells is into the nerve roots. More regarding the effects of NM on spinal cord is discussed later. Tumor cells may also seed the choroid plexus, where CSF is produced, and ultimately gaining direct access to the CSF. Seeding of the choroid plexus is most common in patients with third and lateral ventricular hydrocephalus.
Venous spread may occur when intra-abdominal or thoracic pressure increases and venous flow is retrograde which then allows tumor cells in the systemic venous system to enter the vertebral venous system.
Centripetal migration from systemic tumors along perineural, invasion of nerve space, or perivascular spaces. Malignant cells can migrate along spinal or cranial nerve epineurium-perineurium, invade the subpial space, and travel along blood vessels into the endoneurial space, or invade the nerve parenchyma.Infiltration happens most often at the base of the brain, dorsal surface, and especially at the cauda equina, which is largely due to the effect of gravity. Once in the CSF, malignant cells can extend along the membrane surfaces or spread freely in the CSF and attach to other locations. These cells have the ability to penetrate the pial membrane and invade the spinal cord and cranial nerves.
Infiltration to spinal cord
Infiltration from the subarachnoid space into the spinal cord occurs primarily along the perivascular tissues that surround blood vessels at the brain entrance. Infiltration from the anterior median fissure, a 3mm deep furrow on the anterior side of the spinal cord, to the anterior horn of the spinal cord, the ventral grey matter of the spinal cord, is found along the central artery. Direct infiltration of the nerve roots is also observed, mostly from the dorsal roots (the afferent sensory root of the spinal nerve) than the ventral roots (the efferent motor root of a spinal nerve).With mild infiltration, tumor cells are found diffusely in the subarachnoid space from the cervical to sacral levels. In some cases however there are no differences between spine levels. Infiltration from the subarachnoid space into the spinal cord occurs mainly along the perivascular space of the white matter. However, in some cases, direct infiltration into the spinal cord parenchyma is found together with destruction of the pia mater.
Diagnosis
Screening involves an MRI scan to identify and diagnose tumors in the subarachnoid region of the brain. MRI can make a diagnosis even without an analysis of the cerebrospinal fluid but it can sometimes be difficult to detect because MRI scans cannot always pick up the problem.Diagnosis is most commonly made by lumbar puncture to detect malignant cells in the CSF, although the tests may be negative in roughly 10% of patients. Diagnosis often requires a high index of suspicion and is confirmed by neuroimaging and cerebrospinal fluid analysis.CSF examination is the most useful diagnostic tool for NM. Patients with suspected NM should undergo one or two lumbar punctures, cranial magnetic resonance imaging (MRI), spinal MRI, and a radioisotope CSF flow study to rule out sites of CSF block. If the cytology remains negative and radiological studies are not definitive, consideration may be given to ventricular or lateral cervical spine CSF analysis based on the suspected site of predominant disease. Consideration of signs, symptoms, and neuroimaging can help with the placement to where CSF is drawn. Median time of diagnosis from initial primary cancer diagnosis is between 76 days and 17 months.
Difficulties in diagnosis
NM is multifocal and CSF at a particular site may show no abnormalities if the pathological site is far away. Only 50% of those suspected with NM are actually diagnosed with NM and only the presence of malignant cells in the CSF is diagnosis conclusive.
Techniques
MRI: Meningeal findings are described with the following characteristics: Nodular meningeal tumor, meningeal thickening >3 mm and a subjectively strong contrast enhancement. A smooth contrast enhancement of the meninges was judged to be typical for inflammatory, nonneoplastic meningitis.
CSF cytology: is performed after drawing the CSF by lumbar puncture.
Cytogenetic: measures chromosomal content of cells and fluorescence in situ hybridization which detects numerical and structural genetic aberrations as a sign of malignancy. This is especially useful for liquid tumors such as leukemia and lymphoma. Some of the techniques that achieve this are flow cytometry and DNA single-cell cytometry. However, cytogenetic only assist in diagnosis and is less preferred.
Meningeal Biopsy: may be performed when all of the above criteria is inconclusive. Biopsy is only effective when performed at the region where theres enhancement on the MRI.
Cerebral spinal fluid
Criteria for CSF abnormalities include:
Increased opening pressure (> 200mm of H2O)
Increased Leukocytes (>4/mm3)
Elevated protein (>50 mg/dL)
Decreased glucose (<60 mg/dL)
Tumor markers
These markers can be good indirect indicator of NM but most are not sensitive enough to improve cytogical diagnosis:
Carcinoembryonic antigen (CEA)
alpha-fetoprotein
beta-human chorionic gonadotropin
carbohydrate antigen19-9
creatine-kinase BB
isoenzyme
tissue polypeptide antigen
Beta-2 microglobulin
beta-glucoronidase
lactate dehydrogenase isoenzyme-5
vascular endothelial growth factor
Treatment
There is currently no cure for leptomeningeal disease as the tumor is hard to eradicate. Current treatments for leptomeningeal tumors are palliative. The goals for treatment include prolonging survival and stabilizing neurological symptoms.
Radiotherapy
Radiotherapy is used mostly for focal type of NM due to the nature of damage and success rate associated with the treatment. Radiotherapy targets the tumor and destroys the collective tissues of cancerous cells.
Chemotherapy
Chemotherapy is injected directly into the cerebrospinal fluid, either by lumbar puncture (“spinal tap”) or through a surgically implanted device called an Ommaya reservoir. Intrathecal Therapy is preferred since intravenous chemotherapy do not penetrate the BBB. The most common chemicals used are liposomal cytarabine (DepoCyte) and intrathecal methotrexate (MTX).
The downside of a spinal tap diagnosis is that while it is highly accurate and reliable, it can also report false-negative results. Chemotherapy is delivered intrathecally as it is hard for drugs to make it into the central nervous system. Intrathecal chemotherapy can only penetrate a few millimeters. If the tumor is any thicker, radiation is given to shrink it down.The treatment is done to reduce pressure on the brain caused by any cerebrospinal fluid buildup and to reduce the number of cancer cells causing the pressure. For the best care, patients should see a physician who regularly treats leptomeningeal cancer and is most up-to-date on medicines that penetrate the blood-brain barrier, how to treat the symptoms, and clinical trials that might include patients with leptomeningeal cancer.
Risks of treatments
Both Chemotherapy and Radiotherapy are harmful to the body and most definitely the brain. Caution must be utilized in treating patients with NM. Another factor that makes treatment difficult is that there is no suitable method to evaluate the disease progression.
Prognosis
The prognosis is generally poor with survival typically measured in months. The median survival time of patients without treatment is four to six weeks. The best prognoses are seen from NM due to breast cancer with the median overall survival of no more than six months after diagnosis of NM. Death is generally due to progressive neurological dysfunction. Treatment is meant to stabilize neurological function and prolong survival. Neurological dysfunction usually cannot be fixed but progressive dysfunction can be halted and survival may be increased to four to six months.
It occurs in approximately 3-5% of cancer patients. The disease is usually terminal and if left untreated, the median survival is 4–6 weeks whereas if treated, the median survival can increase to 2–3 months. Treatment will be more effective if it is done on the primary tumor before it metastasizes to the brain or spinal cord.
Patients with leukaemia achieve better results compared to patients with solid tumours who have undergone treatment. It was found that 75% of patients stabilize or improve over several months as opposed to 25% of patients who do not respond and have progressive disease. But despite initial improvement, most patients survive only a few months. Breast cancer and small cell lung cancer are the two solid tumors that respond best to treatment Some patients do better than others, particularly those whose primary cancer is hematologic, bone marrow and lymph nodes.
Factors that lower survival
Much of prognosis can be determined from the damage due to primary cancer. Negative hormone receptor status, poor performance status, more than 3 chemotherapy regimes, and high Cyfra 21-1 level at diagnosis, all indicates lower survival period of patients with NM. Cyfra 21-1 is a fragment of the cytokeratin 19 and may reflect the tumor burden within the CSF.
Epidemiology
In the United States, 1–8% of cancer patients are diagnosed with leptomeningeal disease, with approximately 110,000 cases per year. The exact incidence of leptomeningeal disease is difficult to determine, since gross examination at autopsy may overlook signs of leptomeningeal disease, and microscopic pathological inspection may be normal if the seeding is multifocal or if an unaffected area of the central nervous system (CNS) is examined.
Current research
New treatments and clinical trial for breast cancer patients and non-small cell lung cancer patients with leptomeningeal disease are currently being explored.People with leptomeningeal metastasis are generally excluded from clinical trials, thereby limiting the systematic assessment of novel therapies in this subgroup of patients with poor prognosis. More patients with leptomeningeal metastasis should be enrolled into trials investigating novel agents with the potential to penetrate the blood–brain barrier.Novel approaches are being studied as currently available therapies are toxic and provide limited benefits.
History
Neoplastic Meningitis (NM) was first reported in the 1870s.
Gallery
References
Further reading
Meningeal Carcinomatosis From Cervical Cancer:A Case Report and Review of the Literature
External links
This article incorporates public domain material from the U.S. National Cancer Institute document: "Dictionary of Cancer Terms". |
Tar melanosis | Tar melanosis is an occupational dermatosis that occurs among tar handlers after several years of exposure, characterized by a severe widespread itching that is soon followed by the appearance of reticular pigmentation, telangiectases, and a shiny appearance of the skin.: 858
See also
Skin lesion
== References == |
Hyperchlorhydria | Hyperchlorhydria, sometimes called chlorhydria, sour stomach or acid stomach, refers to the state in the stomach where gastric acid levels are higher than the reference range. The combining forms of the name (chlor- + hydr-), referring to chlorine and hydrogen, are the same as those in the name of hydrochloric acid, which is the active constituent of gastric acid.
In humans, the normal pH is around 1 to 3, which varies throughout the day. The highest basal secretion levels are in the late evening (around 12 A.M. to 3 A.M.). Hyperchlorhydria is usually defined as having a pH less than 2. It has no negative consequences unless other conditions are also present such as gastroesophageal reflux disease (GERD).A cause for hyperchlorhydria is increased Gastrin production
See also
Achlorhydria
Hypochlorhydria
== References == |
Psychasthenia | Psychasthenia was a psychological disorder characterized by phobias, obsessions, compulsions, or excessive anxiety. The term is no longer in psychiatric diagnostic use, although it still forms one of the ten clinical subscales of the popular self-report personality inventories MMPI and MMPI-2.
Signs and symptoms
The MMPI subscale 7 describes psychasthenia as akin to obsessive-compulsive disorder, and as characterised by excessive doubts, compulsions, obsessions, and unreasonable fears. The psychasthenic has an inability to resist specific actions or thoughts, regardless of their maladaptive nature. In addition to obsessive-compulsive features, the scale taps abnormal fears, self-criticism, difficulties in concentration, and guilt feelings. The scale assesses long-term (trait) anxiety, although it is somewhat responsive to situational stress as well.
The psychasthenic has insufficient control over their conscious thinking and memory, sometimes wandering aimlessly and/or forgetting what they were doing. Thoughts can be scattered and take significant effort to organize, often resulting in sentences that do not come out as intended, therefore making little sense to others. The constant mental effort and characteristic insomnia induces fatigue, which worsens the condition. Symptoms can possibly be greatly reduced with concentration exercises and therapy, depending on whether the condition is psychological or biological.
History
The term "psychasthenia" is historically associated primarily with the work of Pierre Janet, who divided the neuroses into the psychasthenias and the hysterias, discarding the term "neurasthenia" since it implied a neurological theory where none existed. Whereas the hysterias involved at their source a narrowing of the field of consciousness, the psychasthenias involved at root a disturbance in the fonction du reél (function of reality), a kind of weakness in the ability to attend to, adjust to, and synthesise ones changing experience (cf. executive functions in todays empiricist psychologies). Carl Gustav Jung later made the hysteric and the psychasthenic states the prototypes of what he described as extroverted and introverted personalities.Karl Jaspers preserves the term "neurasthenia", defining it in terms of "irritable weakness" and describing phenomena such as irritability, sensitivity, a painful sensibility, abnormal responsiveness to stimuli, bodily pains, strong experience of fatigue, etc. This is contrasted with "psychasthenia", which, following Janet, he describes as a variety of phenomena "held together by the theoretical concept of a diminution of psychic energy." The psychasthenic person prefers to "withdraw from his fellows and not be exposed to situations in which his abnormally strong complexes rob him of presence of mind, memory and poise." The psychasthenic lacks confidence, is prone to obsessional thoughts, unfounded fears, self-scrutiny and indecision. This state in turn promotes withdrawal from the world and daydreaming, yet this only makes things worse. "The psyche generally lacks an ability to integrate its life or to work through and manage its various experiences; it fails to build up its personality and make any steady development." Jaspers believed that some of Janets more extreme cases of psychasthenia were cases of schizophrenia.
References
== External links == |
Developmental dysfluency | Developmental dysfluency, or "normal dysfluency", is a lack of language fluency that occurs during early childhood development. It is commonly observed in children ages 2 to 4 years old. This typically occurs as they begin to learn language and communication skills. Developmental dysfluency refers to speech that is continually interrupted rather than flowing naturally. Developmental dysfluency is most commonly expressed through inconsistencies in speech such as stuttering, repetition, lengthening of sounds and syllables, mistiming, and poor inflection.Speech is a complicated skill involving a series of cognitive and linguistic processes that are both sensorimotor and auditory. As children grow, their language and vocabulary grow exponentially. Dysfluencies in early speech are typical as their speech skills develop. The most common form of dysfluency in children younger than three years is the repetition of one-syllable words or parts of words. Words or syllables are often repeated in the beginning of their sentences as they try to process how to form the rest of the sentence.
Language dysfluency may be common in children as they learn basic language skills throughout the crucial development stages in early childhood. Developmental dysfluency is normal in children as they work to acquire language skills and semantic/syntactic processing. About twenty-five percent of children experience some loss in fluency in their linguistic abilities. Some children between the ages of 2 and 6 encounter some obstacles in the path to fluent speech. Fluency in a normal child will typically improve around the age of 4. When attempting to master spoken language, children gradually develop fluent speech. Children go through the same learning patterns while developing their first language as adults do when learning languages other than their native language.Although many adults display types of dysfluency, it is usually in relation to comprehending or expressing different materials under stress. Developmental dysfluency is a normal part of the acquisition of language. An individual may not be fluent in language due to frequent stuttering or as a result of neurogenic dysfunction.
The origin of stuttering is not yet fully understood but parents/adults can mitigate the risk of developmental dysfluency by reducing the conversational demands on their child. Modeling slow, smooth speech and acknowledging the demanding and complex nature of learning language can help.
Symptoms
Symptoms of developmental dysfluency include the repetition of sounds or pauses between words. These symptoms have generally been noted within children from 18 months to 5 years of age. This may persist for weeks or months but eventually disappears due to the maturation of the childs nervous system. Children with a family history of stuttering are more likely to develop the disorder than those without.ex.: "Mommy, I am, I am, um, I am..."
Usually, this language dysfluency is a transitional stage that most children will leave behind as they master oral communications. At this point, there is little to no need for any therapeutic intervention. The typical occurrence lies between the ages of 18 months and 7 years as children pass through stages of speech dysfluency as they learn how to talk. Those with these types of dysfluencies will exhibit the afore mentioned repetitions about once every 10 sentencesMistiming and stuttering are common ways that developmental dysfluency manifests itself. When a child mistimes, they prolong a certain letter/syllable in the word they are saying, thereby taking much longer for their sentence to be said. Pauses or blocking are another side effect relating to developmental dysfluency. This is when one inserts a silent interval within the word. Revision is similar to this but is the halting completely, mid-flow of a sentence and taking the thought in a different direction. There is evidence to show that this may not only be an issue of speech motor areas but also the auditory cortex. In a MEG study by Beal et al. they found that adults with "persistent developmental stuttering" or PDS, had slower cortical timing than those who spoke completely fluent. This shows us something is wrong in their auditory motor integration. As far as the underlying ailments behind stuttering, It is not well known whether this side effect has to do with "errors in linguistic planning" or issues with "access or retrieval of linguistic elements" and it could very well involve both issues.On occasion, children will go beyond the normal dysfluency patterns. Instances like the previously mentioned example indicate that the child is learning to use language. In contrast, children with stuttering disorder, will likely repeat sounds or one-syllable words three or more times. They may also prolong sounds for two or more seconds. In comparison, stuttering can be seen as a process where a word appears to become "stuck," and the person may grimace, jerk the head or neck as he struggles to overcome the stutter.
Characteristics
Characteristics of developmental dysfluency include:
Repeating phrases (e.g. "he ate-he ate my cookie)
Use of filler words (um, uh, like, ah, etc)
No tension of physical inability and struggle to speak
Lack of problematic behaviors when speaking
No negative reaction or frustration
Appearance of dysfluencies only last less than 6 monthsChildren with normal dysfluency tend to have stuttering difficulties that come and go. Generally this is during preschool years and the problem normally ceases altogether by the time a child starts school. Everyone experiences periods of dysfluency - normal speech patterns include about 2-4% interruptions in flow or fluency. Revisions, word and phrase repetitions and interjections are all common in children speech (see typical dysfluencies below) whereas; sound and syllable repetition, sound prolongation and broken words are much more atypical.
Typical Dysfluency Examples
The term dysfluency is used to describe normal irregularities that occur during speech. As children begin to learn how to communicate with language some will experience issues between the ages of 2-6. These can include:
Phrase revisions or abandoned utterances ("Im want. Can I have...")
Hesitations between words ("Can you give me ... blocks")
Multisyllabic word repetitions ("Gimme, Wanna ... etc)
Phrase repetitions ("I need I need I need ... a hug")
Interjections/Interruptions in sentence structure ("Youre ummm, really funny")Children are learning language and linguistics among many other things. It is speculated that children will experience developmental linguistic delays at some point due to their muscle and motor plans not working as quickly as their brains. While they are learning speech, they are also developmentally mastering other skills (walking, potty training, motor skills, etc.)
The origin of stuttering is not yet fully understood but parents/adults can mitigate the risk of developmental dysfluency by reducing the conversational demands on their child. Modeling slow, smooth speech and acknowledging the demanding and complex nature of learning language can help.
Background
Speech is a complicated achievement that involves a series of cognitive, linguistic, sensorimotor and auditory processes that generate an in-depth understanding of language and speech. As children grow up their language and vocabulary grows with them. However, as this happens it is possible that the child might begin to demonstrate forms of disfluencies in their speech as they struggle to get words out when they are engaged in conversation or speaking in general.
Preschool children usually go through a period of dysfluency as they attempt to learn linguistic and speech skills. About 10% of these children will experience a speech or language delay that is serious enough to benefit from early referral and assessment by a speech language pathologist. Normal disfluency begins during a childs intensive language learning years and resolves on its own as the child undergoes growth and development. This is considered the normal phase of language development.
Most children will outgrow the period of dysfluency but those who do not will require speech therapy.Therefore, it is necessary that there is a distinction between childhood dysfluency, that will likely correct itself and other disorders, such as stuttering. The most common form of dysfluency in children younger than 3 years of age is the repetition of one syllable words or parts of words, especially at the beginning of their sentences as they try to form the sentence correctly ("I-I-I want my toy).
Language learning in some children may be more problematic than that of others. As a child grows, their language and vocabulary will grow with them. Due to the large input they are receiving throughout their development it is inevitable that some forms of dysfluencies will be present in their communication efforts. These occurrences, however, are normal. When attempting to master our complex spoken language, childrens fluency will increase as their proficiency in the language increases. In a similar way to if an adult learns a second language, children may go through the same learning patterns as they learn their first language. Research specifically in computational linguistics has shown that there is a correlation that exists between native language and patterns of dysfluencies that can occur beyond developmental stages. If a child is bilingual, meaning they are learning two languages at once, they are more likely to experience prolonged periods of dysfluency as they try to work out the differences between the two language inputs they have been receiving.
The brain and language development
As a child attempts to develop their language acquisition as one of the most fundamental human traits it is the brain that undergoes the developmental changes. During the phases of language acquisition the brain both stores linguistic information and adapts to the grammatical regularities and irregularities of language. Recent advances in Functional neuroimaging (fMRI) have contributed to the system leave analysis of the brain in relation to linguistic processing.
In order for language to be obtained, there needs to be brain stimulation and memory processes at work in order to form the correct brain pathways. When synapses are stimulated repeatedly that pattern of neural connections is then written into the brain and it becomes a more efficient permanent pathway that allows signals to be quickly transmitted. In terms of language, these pathways need to be created in order to remember and understand the language and communicate with it.
During specific periods in a childs development the brain is active in forming connections for different abilities, one of which being language. Infants start out able to distinguish sound and process different auditory stimuli but after six months they are only able to do so in their native language. As infants hear sounds repeated a different cluster of neurons in the auditory cortex of the brain that responds to sound. During preschool years, the development of syntax and grammar takes place. It is during this period that children begin to exhibit symptoms of developmental dysfluency if they have it. At this point, because they are learning language and other motor activities, their brain take in an overload of information and often will backtrack in language development as they try to pair linguistics to sound and syntax.
Prevalence and prognosis
Preschool children usually go through a period of dysfluency as they attempt to learn linguistic and speech skills. About 10% of these children will experience a speech or language delay that is serious enough for them to benefit from early referral and assessment by a speech language pathologist. Normal dysfluency begins during a childs intensive language years and dissipates as the child continues to grow and develop. These dysfluencies are considered a normal phase of language development.Additionally, 85% of children, before preschool age will experience developmental dysfluency. These children wont require intervention because their dysfluency is a normal part of their development. 1 in 12 children, ages 3–17, will experience issues with their speech that is not considered within the normal realm of developmental dysfluency. However, only half of those individuals will receive intervention and speech therapy.Children who do not require speech therapy will often outgrow the period of dysfluency. Experts find that there is a distinction between childhood dysfluency that will likely correct itself and other disorders such as stuttering.
Dysfluency disorders
The following disorders can be diagnosed following the years in which speech pattern disruptions could be the result of developmental dysfluency that is common within the age range of 2–6 years old. There are types of dysfluencies that are normal developmental processes and others that are more abnormal and atypical.
Stuttering
Stuttering is the most common dysfluency disorder. it is an interruption in the flow of speaking characterized by repetitions, sound prolongations, and blocks that change the rhythm of sleep. A disturbance in the normal fluency and time patterning of speech that is inappropriate for the age of the person. Stuttering typically has its origins in childhood. Most who stutter will begin to do so around 2.5 years of age. Approximately 95% of children who stutter will start to do so before the age of 5.
Stuttering symptoms may include dysfluencies such as hesitations, word fillers, nonword fillers, silent pauses, and interjections. All very similar to developmental dysfluency symptoms. Less typical stuttering will include sound/syllable repetitions, prolongations, and blocks. Stuttering can also occur with other speech and sound disorders, and intellectual language disabilities.
Stuttering can greatly interfere with school, work or social interactions. Children who stutter may also experience fear or anxiety about social settings or public speaking. Speech patterns and behaviors that might signal that a child is potentially going to develop a stuttering disorder can include within-word or part0word repetitions prolonged sounds, avoiding speaking situations, looking frustrated or upset and tense appearance in neck muscles.If stuttering is familial there is likely a genetic mutation that causes the disorder. Unlike the aforementioned typical dysfluencies, stuttering can be a result of genetics. Mutations on the GNPTAB, GNPTG, and NAGPA have been found to disrupt the signal that directs enzymes to target locations in the brain and cause stuttering in vocal and linguistic processes.
Cluttering
Cluttering (Tachyphemia) is a fluency disorder that can co-occur with stuttering but may also occur individually. When someone is experiencing cluttering disorder their conversation segments may be perceived as too fast, too irregular or both. Other symptoms may include stuttering, language or phonological errors, and attention deficits. It may result from disorganized speech planning or being unsure of what to say.
Both cluttering and stuttering are forms of fluency disorders that develop beyond the key years of about ages 2–6. During these ages, dysfluency is mainly just considered to be developmental dysfluency. Cluttering, unlike stuttering, can be distinguished by little to no physical structure, little to no secondary behaviors, decreased awareness of speech problems and the aforementioned typical dysfluencies such as revisions and interjections.
Both stuttering and cluttering both have a genetic component. About 1/3 of those who stutter will also clutter which can prove even more difficult to overcome with Speech therapy. A consequence of cluttering is individuals may not be willing to attempt to repair breakdowns in communication which may result in less effective social integration and interactions that can lead to a sense of isolation, anxiety, and depression.
Differences between disorders and developmental dysfluency
There are several warning signs of speech delays that are not considered developmentally normal.
Babies that dont "coo" or babble
Babies that dont respond to noise or speech around them
Their first words have not been spoken by 15 months
They have a 50-word vocabulary, or less, by two years old
Others struggle to understand what the child is saying at 3 years or older
Other adults should be able to understand at least 75% of what child says.
Struggles to follow simple instructions at 2 years old and beyond
Has speech sound error after five years old
"t", "d" and "n" should be pronounced correctly by age 3Experts recommend an initial evaluation by a pediatrician, who might also recommend an evaluation by a speech-language pathologist.
Indications for referral to a speech language pathologist
Indications include:
Doubt as to the nature of the childs speech changes
Exhibit of reactions of avoidance or escape (pauses, interjections, eye blinks and head nods)
Three or more stuttering dysfluencies (e.g. b-but, a-and, thi-this) per 100 syllables uttered.Children may feel a demand to start speaking at a higher level and can have difficulties with speech that exhibits the following patterns:
Fast-paced speech rate with few pauses
The use of several questions in a sentence
Interruption
Lack of learning time
If their teacher/parent does not listen to themWhen those around a child speak too quickly or input several questions within one sentence, the child must engage several cortices as well as comprehension skills in order to verbally respond to the person they are talking to. If the child lacks learning time as they develop, they will be unable to process harder words and hit a stalling point in sentence comprehension. Normal children may be dysfluent at any time butter likely to increase their dysfluencies when they are tired, excited, upset or being rushed to speak. The dysfluencies may appear in a cycle meaning that they may increase in frequency for several days or weeks and then be hardly noticeable again for weeks or months and could return again following this until the behavior is outgrown.
Usually, children with normal dysfluencies such as these appear to be unaware that they are occurring and show no signs of surprise or frustration. It is evident that the child is not struggling to speak but rather taking more time to complete a thought or sentence.
See also
ADHD
Aphasia
Articulation disorder
Child development
Language disorder
Learning disability
References
Sources
Trubo, Richard (2001). "Stuttering". The New Book Of Knowledge - Health and Medicine: 112–123. United States of America: Grolier Incorporated. ISBN 0-7172-0608-4. Note: This annual was also published under the title The 2001 World Book Health & Medical Annual, United States of America: 2001 World Book, Inc.
Stuttering (disfluency). Cincinnati Childrens. (n.d.). Retrieved November 22, 2021, from [1].
Watkins, Kate E.; Smith, Stephen M.; Davis, Steve; Howell, Peter (2008). "Structural and functional abnormalities of the motor system in developmental stuttering". Brain. 131 (1): 50–59. doi:10.1093/brain/awm241. PMC 2492392. PMID 17928317. |
Lepidopterism | Lepidopterism is an irritant contact dermatitis caused by irritating caterpillar or moth hairs coming into contact with the skin or mucosa. When referring to the cause, moth dermatitis and caterpillar dermatitis are commonly used; Caripito itch (known as papillonite in French) is an older name referring to the moth dermatitis caused by some Hylesia species.
See also
Millipede burn
List of cutaneous conditions
References
Further reading
Hossler EW (2009). "Caterpillars and moths". Dermatol Ther. 22 (4): 353–66. doi:10.1111/j.1529-8019.2009.01247.x. PMID 19580579. S2CID 31799282.
Hossler EW (January 2010). "Caterpillars and moths: Part II. Dermatologic manifestations of encounters with Lepidoptera". J. Am. Acad. Dermatol. 62 (1): 13–28, quiz 29–30. doi:10.1016/j.jaad.2009.08.061. PMID 20082887.
Hossler EW (January 2010). "Caterpillars and moths: Part I. Dermatologic manifestations of encounters with Lepidoptera". J. Am. Acad. Dermatol. 62 (1): 1–10, quiz 11–2. doi:10.1016/j.jaad.2009.08.060. PMID 20082886.
Katzenellenbogen, I. (1955). "Caterpillar Dermatitis as an Occupational Disease". Dermatologica. 111 (2): 99–106. doi:10.1159/000256344. PMID 13277355.
Werno, J.; Lesthelle, S.; Doerman, F.; Vincendeau, P. (2002). "Envenimations par les lépidoptères". Revue Française des Laboratoires. 2002 (342): 35. doi:10.1016/S0338-9898(02)80059-2.
External links
Caterpillar envenomation on eMedicine |
Mediastinal lymphadenopathy | Mediastinal lymphadenopathy or mediastinal adenopathy is an enlargement of the mediastinal lymph nodes.
Causes
There are many possible causes of mediastinal lymphadenopathy, including:
Tuberculosis
Sarcoidosis
Lung cancer/oesophageal cancer
Lymphangitis carcinomatosa
Cystic fibrosis
Histoplasmosis
Acute lymphoblastic leukemia
Coccidioidomycosis
Lymphoma
Whipples disease
Goodpasture syndrome
Hypersensitivity pneumonitisInflammatory response to Silicone (leaked from ruptured implants) which has migrated and collected in mediastinal lymph nodes. Silicone mediastinal lymphadenopathy.
See also
Lymphadenopathy
Mediastinum
Mediastinal lymph node
Mediastinal mass
Neoplasia
== References == |
Hypospadias | Hypospadias is a common variation in fetal development of the penis in which the urethra does not open from its usual location in the head of the penis. It is the second-most common birth abnormality of the male reproductive system, affecting about one of every 250 males at birth. Roughly 90% of cases are the less serious distal hypospadias, in which the urethral opening (the meatus) is on or near the head of the penis (glans). The remainder have proximal hypospadias, in which the meatus is all the way back on the shaft of the penis, near or within the scrotum. Shiny tissue that should have made the urethra extends from the meatus to the tip of the glans; this tissue is called the urethral plate.
In most cases, the foreskin is less developed and does not wrap completely around the penis, leaving the underside of the glans uncovered. Also, a downward bending of the penis, commonly referred to as chordee, may occur. Chordee is found in 10% of distal hypospadias and 50% of proximal hypospadias cases at the time of surgery. Also, the scrotum may be higher than usual on either side of the penis (called penoscrotal transposition).
The cause of hypospadias is unknown. It most often occurs by itself, without other variations, although in about 10% of cases it may be part of an intersex condition or a medical syndrome with multiple abnormalities.The most common associated difference is an undescended testicle, which has been reported in around 3% of infants with distal hypospadias and 10% with proximal hypospadias. The combination of hypospadias and an undescended testicle sometimes indicates a child has an intersex condition, so additional testing may be recommended to make sure the child does not have congenital adrenal hyperplasia with salt wasting or a similar condition where immediate medical intervention is needed. Otherwise no blood tests or X-rays are routinely needed in newborns with hypospadias.Hypospadias can be a symptom or indication of a difference in sex development or an intersex condition, but some consider that the presence of hypospadias alone is not enough to classify someone as a person with a difference/variation in sex development or as intersex. In most cases, hypospadias is not associated with any other condition. Hypospadias is however itself recognized as an intersex condition by several intersex rights activist groups, who consider the repositioning of a working urethra on a child too young to consent to be a human rights violation.
Presentation
Complications
There is noted to be an increase in erectile problems in people with hypospadias, particularly when associated with a chordee (down curving of the shaft). There is usually minimal interaction with ability to ejaculate in hypospadias providing the meatus remains distal. This can also be affected by the coexistence of posterior urethral valves. There is an increase in difficulties associated with ejaculation however including increased rate of pain on ejaculation and weak/dribbling ejaculation. The rates of these problems are the same regardless of whether or not the hypospadias is surgically corrected.
Diagnosis
A penis with hypospadias usually has a characteristic appearance. Not only is the meatus (urinary opening) lower than usual, but the foreskin is also often only partially developed, lacking the usual amount that would cover the glans on the underside, causing the glans to have a hooded appearance. However, newborns with partial foreskin development do not necessarily have hypospadias, as some have a meatus in the usual place with a hooded foreskin, called "chordee without hypospadias".In other cases, the foreskin (prepuce) is typical and the hypospadias is concealed. This is called "megameatus with intact prepuce". The condition is discovered during newborn circumcision or later in childhood when the foreskin begins to retract. A newborn with typical-appearing foreskin and a straight penis who is discovered to have hypospadias after the start of circumcision can have circumcision completed without concern for jeopardizing hypospadias repair.
Treatment
Where hypospadias is seen as a genital ambiguity in a child, the World Health Organization standard of care is to delay surgery until the child is old enough to participate in informed consent, unless emergency surgery is needed because the child lacks a urinary opening. Hypospadias is not a serious medical condition. A urinary opening that is not surrounded by glans tissue is more likely to "spray" the urine, which can cause a man to sit to urinate because he cannot reliably stand and hit the toilet. Chordee is a separate condition, but where it occurs, the downward curvature of the penis may be enough to make sexual penetration more difficult. For these reasons or others, people with hypospadias may choose to seek urethroplasty, a surgical extension of the urethra using a skin graft.Surgery can extend the urinary channel to the end of the penis, straighten bending, and/or change the foreskin (by either circumcision or by altering its appearance to look more typical ("preputioplasty"), depending on the desire of the patient. Urethroplasty failure rates vary enormously, from around 5% for the simplest repairs to damage in a normal urethra by an experienced surgeon, to 15-20% when a buccal graft from the inside of the mouth can be used to extend a urethra, to close to 50% when graft urethral tubes are constructed from other skin.When the hypospadias is extensive–third degree/penoscrotal–or has associated differences in sex development such as chordee or cryptorchidism, the best management can be a more complicated decision. The world standard (UN and WHO) forbids nonessential surgery to produce a "normal" appearance without the informed consent of the patient, and the American Academy of Pediatrics currently recommends but does not require the same standard. The AAP Textbook of Pediatric Care states "Gender assignment in patients with genital ambiguity should be made only after careful investigation by a multidisciplinary team; increasingly, surgical decisions are delayed until the child is able to participate in the decision-making process." A karyotype and endocrine evaluation should be performed to detect intersex conditions or hormone deficiencies that have major health risks (i.e. salt-wasting). If the penis is small, testosterone or human chorionic gonadotropin (hCG) injections may be given with consent to enlarge it before surgery if this will increase the chance of a successful urethral repair.Surgical repair of severe hypospadias may require multiple procedures and mucosal grafting. Preputial skin is often used for grafting and circumcision should be avoided before repair. In patients with severe hypospadias, surgery often produces unsatisfactory results, such as scarring, curvature, or formation of urethral fistulas, diverticula, or strictures. A fistula is an unwanted opening through the skin along the course of the urethra, and can result in urinary leakage or an abnormal stream. A diverticulum is an "outpocketing" of the lining of the urethra which interferes with urinary flow and may result in posturination leakage. A stricture is a narrowing of the urethra severe enough to obstruct flow. Reduced complication rates even for third-degree repair (e.g., fistula rates below 5%) have been reported in recent years from centers with the most experience. However, typical complications in urethroplasty for severe hypospadias can lead to long surgical cycles of failure and repair, and side effects may include loss of sexual or urinary function. Research suggests failure rates are higher when urethroplasty corrects a born condition rather than disease or injury so patients and families considering surgery for hypospadias should have realistic expectations about the risks and benefits.
Age at surgery
The results of surgery are probably not influenced by the age at which repair is done. Teens and adults typically spend one night in the hospital after surgery.
Preoperative hormones
Hormones potentially increase the size of the penis, and have been used in children with proximal hypospadias who have a smaller penis. Numerous articles report testosterone injections or topical creams increase the length and circumference of the penis. However, few studies discuss the impact of this treatment on the success of corrective surgery, with conflicting results.
Surgery
Hypospadias repair is done under general anesthesia, most often supplemented by a nerve block to the penis or a caudal block to reduce the general anesthesia needed, and to minimize discomfort after surgery.Many techniques have been used during the past 100 years to extend the urinary channel to the desired location. Today, the most common operation, known as the tubularized incised plate or "TIP" repair, rolls the urethral plate from the low meatus to the end of the glans. TIP repair, also called the Snodgrass Repair (after the creator of the method, Dr. Warren Snodgrass), is the most widely used procedure and surgical method for hypospadias repair worldwide. This procedure can be used for all distal hypospadias repairs, with complications afterwards expected in less than 10% of cases.Less consensus exists regarding proximal hypospadias repair. TIP repair can be used when the penis is straight or has mild downward curvature, with success in 85%. Alternatively, the urinary channel can be reconstructed using the foreskin, with reported success in from 55% to 75%.Most distal and many proximal hypospadias are corrected in a single operation. However, those with the most severe condition having a urinary opening in the scrotum and downward bending of the penis are often corrected in a two-stage operation. During the first operation the curvature is straightened. At the second, the urinary channel is completed. Any complications may require additional interventions for repair.
Outcomes
Problems that can arise include a small hole in the urinary channel below the meatus, called a fistula. The head of the penis, which is open at birth in children with hypospadias and is closed around the urinary channel at surgery, sometimes reopens, known as glans dehiscence. The new urinary opening can scar, resulting in meatal stenosis, or internal scarring can create a stricture, either of which cause partial blockage to urinating. If the new urinary channel balloons when urinating a child is diagnosed with a diverticulum.Most complications are discovered within six months after surgery, although they occasionally are not found for many years. In general, when no problems are apparent after repair in childhood, new complications arising after puberty are uncommon. However, some problems that were not adequately repaired in childhood may become more pronounced when the penis grows at puberty, such as residual penile curvature or urine spraying due to rupture of the repair at the head of the penis.Complications are usually corrected with another operation, most often delayed for at least six months after the last surgery to allow the tissues to heal sufficiently before attempting another repair. Results when circumcision or foreskin reconstruction are done are the same. (Figure 4a, 4b)
Patients and surgeons had differing opinions as to outcomes of hypospadias repair, that is, patients might not be satisfied with a cosmetic result considered satisfactory by the surgeon, but patients with a cosmetic result considered not very satisfactory by the surgeon may themselves be satisfied. Overall, patients were less satisfied than surgeons.Living with hypospadias can present challenging emotional obstacles. Many men, whether they have had surgical repair of their hypospadias as a child or not often are very guarded in school bathrooms or locker rooms. Secrecy about the condition can complicate emotional pain, because talking about the penis is often a taboo subject. Worry, anxiety and feelings of shame are common among adult men born with hypospadias.
Epidemiology
Hypospadias is among the most common birth defects in the world and is said to be the second-most common birth defect in the male reproductive system, occurring once in every 250 males.Due to variations in the reporting requirements of different national databases, data from such registries cannot be used to accurately determine either incidence of hypospadias or geographical variations in its occurrences.
Adults
While most hypospadias repairs are done in childhood, occasionally, an adult desires surgery because of urinary spraying or unhappiness with the appearance. Other adults wanting surgery have long-term complications as a result of childhood surgeries.A direct comparison of surgical results in children versus adults found they had the same outcomes, and adults can undergo hypospadias repair or reoperations with good expectations for success.
Society and culture
Notable individuals with hypospadias:
Henry II of France
Tiger Devore
Gabriel J. Martín
Scout Schultz
Maurice Duplessis
Aprilio Manganang
Lil Dicky
See also
Pediatric urology
Andrology
Bladder exstrophy, cloacal exstrophy
Perineal urethra, pseudovaginal perineoscrotal hypospadias
Intersex surgery
Androgen insensitivity syndrome
Testicular dysgenesis syndrome
References
Further reading
== External links == |
Vasa praevia | Vasa praevia is a condition in which fetal blood vessels cross or run near the internal opening of the uterus. These vessels are at risk of rupture when the supporting membranes rupture, as they are unsupported by the umbilical cord or placental tissue.
Risk factors include low-lying placenta, in vitro fertilization.Vasa praevia occurs in about 0.6 per 1000 pregnancies. The term "vasa previa" is derived from the Latin; "vasa" means vessels and "previa" comes from "pre" meaning "before" and "via" meaning "way". In other words, vessels lie before the fetus in the birth canal and in the way.
Cause
Vasa previa is present when unprotected fetal vessels traverse the fetal membranes over the internal cervical os. These vessels may be from either a velamentous insertion of the umbilical cord or may be joining an accessory (succenturiate) placental lobe to the main disk of the placenta. If these fetal vessels rupture the bleeding is from the fetoplacental circulation, and fetal exsanguination will rapidly occur, leading to fetal death. It is thought that vasa previa arises from an early placenta previa. As the pregnancy progresses, the placenta tissue surrounding the vessels over the cervix undergoes atrophy, and the placenta grows preferentially toward the upper portion of the uterus. This leaves unprotected vessels running over the cervix and in the lower uterine segment. This has been demonstrated using serial ultrasound. Oyelese et al. found that 2/3 of patient with vasa previa at delivery had a low-lying placenta or placenta previa that resolved prior to the time of delivery.
There are three types of vasa previa. Types 1 and 2 were described by Catanzarite et al. In Type 1, there is a velamentous insertion with vessels running over the cervix. In Type 2, unprotected vessels run between lobes of a bilobed or succenturiate lobed placenta. In Type 3, a portion of the placenta overlying the cervix undergoes atrophy. In this type, there is a normal placental cord insertion and the placenta has only one lobe. However, vessels at a margin of the placenta are exposed.
Risk factors
Vasa previa is seen more commonly with velamentous insertion of the umbilical cord, accessory placental lobes (succenturiate or bilobate placenta), multiple gestation, and in vitro fertilisation pregnancy. In IVF pregnancies, incidence as high as one in 300 has been reported. The reasons for this association are not clear, but disturbed orientation of the blastocyst at implantation, vanishing embryos and the increased frequency of placental morphological variations in IVF pregnancies have all been postulated.
Diagnosis
The classic triad of the vasa praevia is: membrane rupture, painless vaginal bleeding and fetal bradycardia or fetal death.
Prior to the advent of ultrasound, this diagnosis was most often made after a stillbirth or neonatal death in which the mother had ruptured her membranes, had some bleeding, and delivered an exsanguinated baby. In these cases, examination of the placenta and membranes after delivery would show evidence of a velamentous cord insertion with rupture of the vessels. However, with almost universal use of ultrasound in the developed world, many cases are now detected during pregnancy, giving the opportunity to deliver the baby before this catastrophic rupture of the membranes occurs. Vasa previa is diagnosed with ultrasound when echolucent linear or tubular structures are found overlying the cervix or in close proximity to it. Transvaginal ultrasound is the preferred modality. Color, power and pulsed wave Doppler should be used to confirm that the structures are fetal vessels. The vessels will demonstrate a fetal arterial or venous waveform.
Alkali denaturation test detects the presence of fetal hemoglobin in vaginal blood, as fetal hemoglobin is resistant to denaturation in presence of 1% NaOH. Tests such as the Ogita Test, Apt test or Londersloot test were previously used to attempt to detect fetal blood in the vaginal blood, to help make the diagnosis. These tests are no longer widely used in the US, but are sometimes used in other parts of the world.
Also detection of fetal hemoglobin in vaginal bleeding is diagnostic.
Treatment
It is recommended that women with vasa previa should deliver through elective cesarean prior to rupture of the membranes. Given the timing of membrane rupture is difficult to predict, elective cesarean delivery at 35–36 weeks is recommended. This gestational age gives a reasonable balance between the risk of death and that of prematurity. Several authorities have recommended hospital admission about 32 weeks. This is to give the patient proximity to the operating room for emergency delivery should the membranes rupture. Because these patients are at risk for preterm delivery, it is recommended that steroids should be given to promote fetal lung maturation. When bleeding occurs, the patient goes into labor, or if the membranes rupture, immediate treatment with an emergency caesarean delivery is usually indicated.
See also
Placenta praevia
References
External links
International Vasa Previa Foundation |
Tyzzers disease | Tyzzers disease is an acute epizootic bacterial disease found in rodents, rabbits, dogs, cats, birds, pandas, deer, foals, cattle, and other mammals including gerbils and spinifex hopping-mice (Notomys alexis) . It is caused by the spore-forming bacterium Clostridium piliforme, formerly known as Bacillus piliformis. It is an infectious disease characterized by necrotic lesions on the liver, is usually fatal, and is present worldwide. Animals with the disease become infected through oral ingestion of the bacterial spores and usually die within a matter of days. Animals most commonly affected include young, stressed animals in laboratory environments, such as immature rodents and rabbits. Most commonly affected wild animals include muskrats (Ondatra zibethicus) and occasionally cottontail rabbits (Sylvilagus spp.). Even today, much remains unknown about Tyzzers disease, including how and why it occurs.
Distribution
Although Tyzzers disease is commonly found in laboratory animals worldwide, infected wild animal populations have been identified in North America and Australia. Specific locations where the disease has been reported in the United States include Connecticut, Idaho, Iowa, Maryland, Michigan, Montana, Ohio, Wisconsin, and Wyoming. In Canada, it has been reported in British Columbia, Manitoba, Ontario, and Saskatchewan. Outbreaks in these locations are primarily attributed to muskrat populations; however infected cottontail rabbits have been discovered in Maryland.
Transmission
Tyzzers disease is transmitted horizontally through the fecal-oral route. Bacterial spores within infected fecal matter can contaminate soil or feed and become orally ingested by a viable host. Success of the disease is determined by the amount and virulence of the bacteria and the resistance of the host. Laboratory animals are more susceptible to this disease, as bacteria spores from infected feces can survive in bedding at room temperature for over one year. Animals do occasionally transfer the disease asymptomatically, acting as carriers. Infected animals are more likely to develop the disease when subjected to stressful conditions.
Clinical Signs
Common clinical signs of Tyzzers Disease include watery diarrhea, depression, emaciation, and a ruffled coat. Other observed clinical signs include melena, depression, lethargy, and decreased temperature. In muskrats, this disease is characterized by extensive hemorrhaging within the lower intestine and abdomen. Due to the fast-acting nature of this disease, infected individuals often do not live long enough to exhibit symptoms. It is not uncommon for an infected animal to die within 1–10 days of disease contraction.During necropsy, inflammation of the ileum, cecum, and colon are commonly present. Perhaps the most distinctive trait of this disease, however, is the grayish yellow necrotic lesions found on the liver of diseased animals. The number of these spots present can range from one to countless. Occasionally, lesions are discovered in the lower intestinal tract and heart as well. Even with physical signs and symptoms present, a conclusive diagnosis is dependent upon the presence of C. piliforme within the liver of the infected animal.
Prevention
In laboratory animals, prevention includes a low-stress environment, an adequate amount of nutritional feed, and appropriate sanitation measurements. Because animals likely ingest bacterial spores from contaminated bedding and feed, regular cleaning is a helpful method of prevention. No prevention methods are currently available for wild animal populations.
Treatment and Control
Currently, antibiotic drugs such as penicillin or tetracycline are the only effective methods for disease treatment. Within wild populations, disease control consists of reducing the amount of bacterial spores present in the environment. This can be done by removing contaminated carcasses and scat.
History
Tyzzers disease was first discovered by parasitologist Ernest Tyzzer in 1917 when his entire colony of Japanese waltzing mice suddenly died. Upon closer observation, Tyzzer discovered necrotic lesions and spore-forming bacillus in the livers of the deceased mice. This led Tyzzer to name the bacteria Bacillus piliformis and deem it the cause of this new disease. Later on, B. piliformis was renamed C. piliforme. In the 1940s, a biologist named Paul Errington found a fatal condition in Iowa muskrat populations that he believed to be a new disease. Dead muskrats were found with blood around their anus and internal bleeding, therefore Errington called this new condition “hemorrhagic disease”. Upon necropsy, lesions were found on the liver of the deceased muskrats. While hemorrhagic disease was identified in dead muskrats across North America, the causative agent remained undetermined. After Erringtons death, the name “hemorrhagic disease” was changed to “Errington’s disease”. It was not until 1971 that the two diseases were discovered to be the same, upon which the name was reverted to “Tyzzer’s disease”.
== References == |
Optic neuritis | Optic neuritis describes any condition that causes inflammation of the optic nerve; it may be associated with demyelinating diseases, or infectious or inflammatory processes.It is also known as optic papillitis (when the head of the optic nerve is involved), neuroretinitis (when there is a combined involvement of optic disc and surrounding retina in the macular area) and retrobulbar neuritis (when the posterior part of the nerve is involved). Prelaminar optic neuritis describes involvement of the non-myelinated axons in the retina. It is most often associated with multiple sclerosis, and it may lead to complete or partial loss of vision in one or both eyes. Other causes include:
Hereditary optic neuritis (Lebers disease)
Parainfectious optic neuritis (associated with viral infections such as measles, mumps, chickenpox, whooping cough and glandular fever)
Infectious optic neuritis (sinus related or associated with cat scratch fever, tuberculosis, lyme disease and cryptococcal meningitis in AIDS patients
Autoimmune causes (sarcoidosis, systemic lupus erythematosus, PAN, MOG Antibody disease, granulomatosis with polyangiitis)
Diabetes Mellitus
Low phosphorus levels
HyperkalaemiaPartial, transient vision loss (lasting less than one hour) can be an indication of early onset multiple sclerosis.
Signs and symptoms
Major symptoms are sudden loss of vision (partial or complete), sudden blurred or "foggy" vision, and pain on movement of the affected eye. Early symptoms that require investigation include symptoms from multiple sclerosis (twitching, lack of coordination, slurred speech, frequent episodes of partial vision loss or blurred vision), episodes of "disturbed/blackened" rather than blurry indicate moderate stage and require immediate medical attention to prevent further loss of vision. Other early symptoms are reduced night vision, photophobia and red eyes. Many patients with optic neuritis may lose some of their color vision in the affected eye (especially red), with colors appearing subtly washed out compared to the other eye. Patients may also experience difficulties judging movement in depth which can be particular troublesome during driving or sport (Pulfrich effect). Likewise transient worsening of vision with increase of body temperature (Uhthoffs phenomenon) and glare disability are a frequent complaint. However, several case studies in children have demonstrated the absence of pain in more than half of cases (approximately 60%) in their pediatric study population, with the most common symptom reported simply as "blurriness." Other remarkable differences between the presentation of adult optic neuritis as compared to pediatric cases include more often unilateral optic neuritis in adults, while children much predominantly present with bilateral involvement.
On medical examination the head of the optic nerve can easily be visualized by a slit lamp with a high positive lens or by using direct ophthalmoscopy; however, frequently there is no abnormal appearance of the nerve head in optic neuritis (in cases of retrobulbar optic neuritis), though it may be swollen in some patients (anterior papillitis or more extensive optic neuritis). In many cases, only one eye is affected and patients may not be aware of the loss of color vision until they are asked to close or cover the healthy eye.
Cause
The optic nerve comprises axons that emerge from the retina of the eye and carry visual information to the primary visual nuclei, most of which is relayed to the occipital cortex of the brain to be processed into vision. Inflammation of the optic nerve causes loss of vision, usually because of the swelling and destruction of the myelin sheath covering the optic nerve.
The most common cause is multiple sclerosis or ischemic optic neuropathy due to thrombosis or embolism of the vessel that supplies the optic nerve. Up to 50% of patients with MS will develop an episode of optic neuritis, and 20-30% of the time optic neuritis is the presenting sign of MS. The presence of demyelinating white matter lesions on brain MRI at the time of presentation of optic neuritis is the strongest predictor for developing clinically definite MS. Almost half of the patients with optic neuritis have white matter lesions consistent with multiple sclerosis.
Some other common causes of optic neuritis include infection (e.g. a tooth abscess in the upper jaw, syphilis, Lyme disease, herpes zoster), autoimmune disorders (e.g. lupus, neurosarcoidosis, neuromyelitis optica), methanol poisoning, Vitamin B12 deficiency, beriberi, dysautonomia (i.e. autonomic nervous system dysfunction), and diabetes, or an injury to the eye. In neuromyelitis optica higher AQP4 autoantibody levels are associated with the occurrence of optic neuritis.Less common causes are: papilledema, brain tumor or abscess in the occipital region, cerebral trauma or hemorrhage, meningitis, arachnoidal adhesions, sinus thrombosis, liver dysfunction, or late stage kidney disease.
Demyelinating recurrent optic neuritis and non-demyelinating (CRION)
The repetition of an idiopathic optic neuritis is considered a distinct clinical condition, and when it shows demyelination, it has been found to be associated to anti-MOG and AQP4-negative neuromyelitis opticaWhen an inflammatory recurrent optic neuritis is not demyelinating, it is called "Chronic relapsing inflammatory optic neuropathy" (CRION)When it is anti-MOG related, it is demyelinating and it is considered inside the anti-MOG associated inflammatory demyelinating diseases.
Some reports point to the possibility to establish a difference via OCT
Treatment
In most MS-associated optic neuritis, visual function spontaneously improves over 2–3 months, and there is evidence that corticosteroid treatment does not affect the long term outcome. However, for optic neuritis that is not MS-associated (or atypical optic neuritis) the evidence is less clear and therefore the threshold for treatment with intravenous corticosteroids is lower. Intravenous corticosteroids also reduce the risk of developing MS in the following two years in patients with MRI lesions; but this effect disappears by the third year of follow up.Paradoxically, oral administration of corticosteroids in this situation may lead to more recurrent attacks than in non-treated patients (though oral steroids are generally prescribed after the intravenous course, to wean the patient off the medication). This effect of corticosteroids seems to be limited to optic neuritis and has not been observed in other diseases treated with corticosteroids.A Cochrane Systematic Review studied the effect of corticosteroids for treating people with acute optic neuritis. Specific corticosteroids studied included intravenous and oral methylprednisone, and oral prednisone. The authors conclude that current evidence does not show a benefit of either intravenous or oral corticosteroids for rate of recovery of vision (in terms of visual acuity, contrast sensitivity, or visual fields). There are a number of reasons why this might be the case.
Epidemiology
Optic neuritis typically affects young adults ranging from 18–45 years of age, with a mean age of 30–35 years. There is a strong female predominance. The annual incidence is approximately 5/100,000, with a prevalence estimated to be 115/100,000.
Society and culture
In Charles Dickens Bleak House, the main character, Esther Summerville, has a transient episode of visual loss, the symptoms of which are also seen in people who have optic neuritis. Legal historian Sir William Searle Holdsworth, suggested that the events in Bleak House took place in 1827.
In an episode of Dr. Quinn, Medicine Woman ("Season of Miracles", season five), Reverend Timothy Johnson is struck blind by optic neuritis on Christmas Day 1872. He remains blind for the duration of the series.
See also
Optic neuropathy
Visual snow
References
== External links == |
Oculocerebrorenal syndrome | Oculocerebrorenal syndrome (also called Lowe syndrome) is a rare X-linked recessive disorder characterized by congenital cataracts, hypotonia, intellectual disability, proximal tubular acidosis, aminoaciduria and low-molecular-weight proteinuria. Lowe syndrome can be considered a cause of Fanconi syndrome (bicarbonaturia, renal tubular acidosis, potassium loss and sodium loss).
Signs and symptoms
Boys with Lowe syndrome are born with cataracts in both eyes; glaucoma is present in about half of the individuals with Lowe syndrome, though usually not at birth. While not present at birth, kidney problems develop in many affected boys at about one year of age. Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin, calcium and L-carnitine. This problem is known as Fanconi-type renal tubular dysfunction.
Genetics
This syndrome is caused by mutations in the OCRL gene which encodes an inositol polyphosphate-5-phosphatase. At least one mechanism by which these mutations cause this syndrome is by loss of its Rab-binding domain.This protein is associated with the primary cilia of the retinal pigment epithelial cells, fibroblasts and kidney tubular cells. This suggests that this syndrome is due to dysfunction of the cilia in these cells. About 120 mutations are associated with this condition and OCRL gene which is associated with oculocerebrorenal syndrome
Diagnosis
Diagnosis of oculocerebrorenal syndrome can be done via genetic testing Among the different investigations that can de done are:
Urinalysis
MRI
Blood test
Treatment
In terms of treatment of oculocerebrorenal syndrome for those individuals who are affected by this condition includes the following:
Glaucoma control (via medication)
Nasogastric tube feeding
Physical therapy
Clomipramine
Potassium citrate
Epidemiology
Because oculocerebrorenal syndrome is an X-linked recessive condition, the disease develops mostly in men with very rare occurrences in women, while women are carriers of the disease; it has an estimated prevalence of 1 in 500,000 people.
History
It was first described in 1952 by American paediatrician Charles Upton Lowe (August 24, 1921 – February 9, 2012) and colleagues at the Massachusetts General Hospital in Boston. Because of the three major organ systems involved (eyes, brain and kidney), it is known as oculocerebrorenal syndrome.
See also
List of congenital disorders
References
Further reading
Bökenkamp, Arend; Ludwig, Michael (1 January 2016). "The oculocerebrorenal syndrome of Lowe: an update". Pediatric Nephrology (Berlin, Germany). 31 (12): 2201–2212. doi:10.1007/s00467-016-3343-3. ISSN 0931-041X. PMC 5118406. PMID 27011217.
== External links == |
Glycogen storage disease | A glycogen storage disease (GSD, also glycogenosis and dextrinosis) is a metabolic disorder caused by an enzyme deficiency affecting glycogen synthesis, glycogen breakdown, or glucose breakdown, typically in muscles and/or liver cells.GSD has two classes of cause: genetic and acquired. Genetic GSD is caused by any inborn error of metabolism (genetically defective enzymes) involved in these processes. In livestock, acquired GSD is caused by intoxication with the alkaloid castanospermine.
Types
Remarks:
Some GSDs have different forms, e.g. infantile, juvenile, adult (late-onset).
Some GSDs have different subtypes, e.g. GSD1a / GSD1b, GSD9A1 / GSD9A2 / GSD9B / GSD9C / GSD9D.
GSD type 0: Although glycogen synthase deficiency does not result in storage of extra glycogen in the liver, it is often classified with the GSDs as type 0 because it is another defect of glycogen storage and can cause similar problems.
GSD type VIII (GSD 8): In the past it was considered a distinct condition, however it is now classified with GSD type VI or GSD IXa1; it has been described as X-linked recessive inherited.
GSD type XI (GSD 11): Fanconi-Bickel syndrome, hepatorenal glycogenosis with renal Fanconi syndrome, no longer considered a glycogen storage disease.
GSD type XIV (GSD 14): Now classed as Congenital disorder of glycosylation type 1 (CDG1T), affects the phosphoglucomutase enzyme (gene PGM1).
Lafora disease is considered a complex neurodegenerative disease and also a glycogen metabolism disorder.
Diagnosis
Treatment
Treatment is dependent on the type of glycogen storage disease. GSD I is typically treated with frequent small meals of carbohydrates and cornstarch, called modified cornstarch therapy, to prevent low blood sugar, while other treatments may include allopurinol and human granulocyte colony stimulating factor.
Epidemiology
Overall, according to a study in British Columbia, approximately 2.3 children per 100,000 births (1 in 43,000) have some form of glycogen storage disease. In the United States, they are estimated to occur in 1 per 20,000–25,000 births. Dutch incidence rate is estimated to be 1 per 40,000 births.
While a Mexican incidence showed 6.78:1000 male newborns.
References
== External links == |
Cryptotia | Cryptotia is the condition where an ear appears to have its upper portion buried underneath the side of the head. The condition also involves underdeveloped scapha and antihelical crura. Cryptotia is also known as buried ear or hidden ear.
Treatment
Cryptotia is often treated through surgery which involves releasing the ear from its buried position, reshaping the cartilage and using local tissue to resurface the released cartilage.
See also
Otoplasty
Ear shaping
Otolaryngology
References
== External links == |
Cerebrospinal fluid rhinorrhoea | Cerebrospinal fluid rhinorrhoea (CSF rhinorrhoea) refers to the drainage of cerebrospinal fluid through the nose (rhinorrhoea). It is typically caused by a basilar skull fracture, which presents complications such as infection. It may be diagnosed using brain scans (prompted based on initial symptoms), and by testing to see if discharge from the nose is cerebrospinal fluid. Treatment may be conservative (as many cases resolve spontaneously), but usually involves neurosurgery.
Classification
CSF rhinorrhoea may be spontaneous, traumatic, or congenital.Traumatic CSF rhinorrhoea is the most common type of CSF rhinorrhoea. It may be due to severe head injury, or from complications from neurosurgery.Spontaneous CSF rhinorrhoea is the most common acquired defect in the skull base bones (anterior cranial fossa) causing spontaneous nasal liquorrhea. Defects are often localized in the sphenoid bone and the ethmoid bone.
sphenoid sinus (43%).
ethmoid bone (29%).
cribriform plate (29%).Congenital CSF rhinorrhoea is the least common type of CSF rhinorrhoea. It may be caused by problems in the embryological development of bones of the skull.
Signs and symptoms
CSF rhinorrhoea involves drainage of cerebrospinal fluid through the nose. This appears as a clear, colourless liquid.
Aldroubi sign "The liquid in CSF rhinorrhea is thin and clear, and an affected person might notice a sweet or salty taste due to the increased glucose and electrolytes present in cerebrospinal fluid so some affected toddlers and young children tend to lick their nose frequently".
Causes
Traumatic
CSF rhinorrhoea may be a sign of a basilar skull fracture. Other signs of a basilar skull fracture include CSF otorrhoea (drainage of CSF through the ear). It can have devastating complications in some patients, as the communication between the nasal cavity, the cerebrospinal fluid and the central nervous system can result in severe bacterial infections.CSF rhinorrhoea may be a complication of neurosurgery, such as functional endoscopic sinus surgery, and hypophysectomy (partial or complete removal of the pituitary gland).
Non-traumatic
CSF rhinorrhoea may be caused by the growth of certain cancers (such as pituitary adenoma), congenital problems with bones of the skull, or inflammation that damages the bones of the skull.
Diagnosis
Radiology
If a patient has clear, colourless liquid leaking from the nose, then radiographs or CT scans may be used to look for a basilar skull fracture.
Biochemistry
Measures of CSF components, such as glucose, have been used in the past, but are neither sensitive nor specific. Beta-2 transferrin has a high positive predictive value of CSF rhinorrhoea. It has also been noted to be characterized by unilateral discharge.
Treatment
Surgery
Neurosurgery is usually necessary to prevent the spread of infection to the meninges. Minimally invasive techniques tend to have fewer complications compared to open techniques.
Conservative management
Conservative management includes watchful waiting, as some minor CSF leaks often stop spontaneously.
See also
Beta-2 transferrin
Meningitis
Traumatic head injury
References
== External links == |
Osteopathia striata with cranial sclerosis | Osteopathia striata with cranial sclerosis (OSCS) is a rare genetic entity characterized by osseous abnormalities.
Signs and symptoms
Symptoms and their severity vary person to person but generally people with OSCS have generalized dysplasia of the distal parts of the long bones, cranial sclerosis (that is, the hardening of bones in the face and head), macrocephaly (abnormally large head), and cleft palate.
Developmental delay, hearing loss, congenital heart defects, alongside feeding and breathing (dyspnea) difficulties are common as well, although they are not seen in all cases.
Complications
The feeding and breathing difficulties that are sometimes associated with OSCS can result in starvation, nutritional deficiencies, and/or respiratory arrest if they remain untreated, which may result in early death.
Treatment
Although OSCS has no cure, it can be treated and managed. Treatment is symptom-specific, for example: avoiding areas with air pollution (e.g., big cities, smoking areas, etc.), high-altitude areas, and physically exhausting activities can reduce breathlessness episodes (breathing difficulties).
Causes
This condition is caused by X-linked dominant mutations in the AMER1 gene, in the X chromosome.
Prevalence
According to OMIM, the total number of cases described in medical literature is between 70 and 90.
== References == |
Schizotypal personality disorder | Schizotypal personality disorder (STPD or SPD), also known as schizotypal disorder, is a mental and behavioural disorder. DSM classification describes the disorder specifically as a personality disorder characterized by thought disorder, paranoia, a characteristic form of social anxiety, derealization, transient psychosis, and unconventional beliefs. People with this disorder feel pronounced discomfort in forming and maintaining social connections with other people, primarily due to the belief that other people harbour negative thoughts and views about them. Peculiar speech mannerisms and socially unexpected modes of dress are also characteristic. Schizotypal people may react oddly in conversations, not respond, or talk to themselves. They frequently interpret situations as being strange or having unusual meaning for them; paranormal and superstitious beliefs are common. Schizotypal people usually disagree with the suggestion their thoughts and behaviour are a disorder, and seek medical attention for depression or anxiety instead. Schizotypal personality disorder occurs in approximately 3% of the general population and is more commonly diagnosed in males.The term "schizotype" was first coined by Sandor Rado in 1956 as an abbreviation of "schizophrenic phenotype". STPD is classified as a cluster A personality disorder, also known as the "odd or eccentric" cluster.
Causes
Genetic
Schizotypal personality disorder is widely understood to be a "schizophrenia spectrum" disorder. Rates of schizotypal personality disorder are much higher in relatives of individuals with schizophrenia than in the relatives of people with other mental illnesses or in people without mental illness. Technically speaking, schizotypal personality disorder may also be considered an "extended phenotype" that helps geneticists track the familial or genetic transmission of the genes that are implicated in schizophrenia pathogenesis. But there is also a genetic connection of STPD to mood disorders and depression in particular. Prediction of schizophrenia based on schizotypal traits has a higher accuracy for individuals with high genetic risk for STPD.
Social and environmental
Unique environmental factors, which differ from shared sibling experiences, have been found to play a role in the development of STPD and its dimensions. There is now evidence to suggest that parenting styles, early separation, trauma/maltreatment history (especially early childhood neglect) can lead to the development of schizotypal traits. Neglect or abuse, trauma, or family dysfunction during childhood may increase the risk of developing schizotypal personality disorder. There is also evidence indicating insults in the prenatal environment could have an effect on development of STPD. Over time, children learn to interpret social cues and respond appropriately but for unknown reasons this process does not work well for people with this disorder.Schizotypal personality disorders are characterized by a common attentional impairment in various degrees that could serve as a marker of biological susceptibility to STPD. The reason is that an individual who has difficulties taking in information may find it difficult in complicated social situations where interpersonal cues and attentive communications are essential for quality interaction. This might eventually cause the individual to withdraw from most social interactions, thus leading to asociality.
Diagnosis
Screening
There are various methods of screening for schizotypal personality. The Schizotypal Personality Questionnaire (SPQ) measures nine traits of STPD using a self-report assessment. The nine traits referenced are Ideas of Reference, Excessive Social Anxiety, Odd Beliefs or Magical Thinking, Unusual Perceptual Experiences, Odd or Eccentric Behavior, No Close Friends, Odd Speech, Constricted Affect, and Suspiciousness. A study found that of the participants who scored in the top 10th percentile of all the SPQ scores, 55% were clinically diagnosed with STPD. A method that measures the risk for developing psychosis through self-reports is the Wisconsin Schizotypy Scale (WSS). The WSS divides schizotypal personality traits into 4 scales for Perceptual Aberration, Magical Ideation, Revised Social Anhedonia, and Physical Anhedonia. A comparison of the SPQ and the WSS suggests that these measures should be cautiously used for screening purposes of STPD.
STPD as a Personality Disorder
DSM-5
In the American Psychiatric Associations DSM-5, schizotypal personality disorder is defined as a "pervasive pattern of social and interpersonal deficits marked by acute discomfort with, and reduced capacity for, close relationships as well as by cognitive or perceptual distortions and eccentricities of behavior, beginning by early adulthood and present in a variety of contexts."At least five of the following symptoms must be present:
ideas of reference
strange beliefs or magical thinking that influences behavior and is inconsistent with subcultural norms (e.g., superstitiousness, belief in clairvoyance, telepathy, or “sixth sense”, bizarre fantasies or preoccupations)
abnormal perceptual experiences, including bodily illusions
strange thinking and speech (e.g., vague, circumstantial, metaphorical, overelaborate, or stereotyped)
suspiciousness or paranoid ideation
inappropriate or constricted affect
strange behavior or appearance
lack of close friends
excessive social anxiety that does not diminish with familiarity and tends to be associated with paranoid fears rather than negative judgments about selfThese symptoms must not occur only during the course of a disorder with similar symptoms (such as schizophrenia or autism spectrum disorder).
STPD as a Clinical Disorder
ICD-10
The World Health Organizations ICD-10 uses the name schizotypal disorder (F21). It is classified as a clinical disorder associated with schizophrenia, rather than a personality disorder as in DSM-5.The ICD definition is:
A disorder characterized by eccentric behavior and anomalies of thinking and affect which resemble those seen in schizophrenia, though no definite and characteristic schizophrenic anomalies have occurred at any stage. There is no dominant or typical disturbance, but any of the following may be present:
Inappropriate or constricted affect (the individual appears cold and aloof);
Behavior or appearance that is odd, eccentric or peculiar;
Poor rapport with others and a tendency to withdraw socially;
Odd beliefs or magical thinking, influencing behavior and inconsistent with subcultural norms;
Suspiciousness or paranoid ideas;
Obsessive ruminations without inner resistance;
Unusual perceptual experiences including somatosensory (bodily) or other illusions, depersonalization or derealization;
Vague, circumstantial, metaphorical, over-elaborate or stereotyped thinking, manifested by odd speech or in other ways, without gross incoherence;
Occasional transient quasi-psychotic episodes with intense illusions, auditory or other hallucinations and delusion-like ideas, usually occurring without external provocation.
The disorder runs a chronic course with fluctuations of intensity. Occasionally it evolves into overt schizophrenia. There is no definite onset and its evolution and course are usually those of a personality disorder. It is more common in individuals related to people with schizophrenia and is believed to be part of the genetic "spectrum" of schizophrenia.
Diagnostic guidelines
This diagnostic rubric is not recommended for general use because it is not clearly demarcated either from simple schizophrenia or from schizoid or paranoid personality disorders, or possibly autism spectrum disorders as currently diagnosed. If the term is used, three or four of the typical features listed above should have been present, continuously or episodically, for at least two years. The individual must never have met criteria for schizophrenia itself. A history of schizophrenia in a first-degree relative gives additional weight to the diagnosis but is not a prerequisite.
Subtypes
Theodore Millon proposes two subtypes of schizotypal personality. Any individual with schizotypal personality disorder may exhibit either one of the following somewhat different subtypes (Note that Millon believes it is rare for a personality with one pure variant, but rather a mixture of one major variant with one or more secondary variants):
Treatment
Medication
STPD is rarely seen as the primary reason for treatment in a clinical setting, but it often occurs as a comorbid finding with other mental disorders. When patients with STPD are prescribed pharmaceuticals, they are usually prescribed neuroleptics of the sort used to treat schizophrenia; however, the use of neuroleptic drugs in the schizotypal population is in great doubt. While people with schizotypal personality disorder and other attenuated psychotic-spectrum disorders may have a good outcome with neuroleptics in the short term, long-term followup suggests significant impairment in daily functioning compared to schizotypal and even schizophrenic people without neuroleptic drug exposure. Antidepressants are also sometimes prescribed, whether for STPD proper or for comorbid anxiety and depression.
Therapy
According to Theodore Millon, schizotypal personality disorder is one of the easiest personality disorders to identify but one of the most difficult to treat with psychotherapy. Persons with STPD usually consider themselves to be simply eccentric or nonconformist; the degree to which they consider their social nonconformity a problem differs from the degree to which it is considered a problem in psychiatry. It is difficult to gain rapport with people with STPD due to the fact that increasing familiarity and intimacy usually increase their level of anxiety and discomfort.Group therapy is recommended for persons with STPD only if the group is well structured and supportive. Otherwise, it could lead to loose and tangential ideation. Support is especially important for schizotypal patients with predominant paranoid symptoms, because they will have a lot of difficulties even in highly structured groups.
Comorbidity
Schizotypal personality disorder frequently co-occurs with major depressive disorder, dysthymia and social phobia. Furthermore, sometimes schizotypal personality disorder can co-occur with obsessive–compulsive disorder, and its presence appears to affect treatment outcome adversely. Some people with a clinical diagnosis of OCD have been found to also possess many schizotypal personality traits resulting in what can be called ‘schizotypal OCD’. Without proper treatment, STPD tendencies, such as magical thinking and paranoid ideation, could worsen the symptoms of OCD in an individual. There may also be an association with bipolar disorder. People with Gilles de la Tourette syndrome (GTS) can commonly possess some schizotypal traits.In terms of comorbidity with other personality disorders, schizotypal personality disorder has high comorbidity with schizoid and paranoid personality disorder, the other two Cluster A conditions. It also has significant comorbidity with borderline personality disorder and narcissistic personality disorder.Some schizotypal people go on to develop schizophrenia, but most of them do not. There are dozens of studies showing that individuals with schizotypal personality disorder score similar to individuals with schizophrenia on a very wide range of neuropsychological tests. Cognitive deficits in patients with schizotypal personality disorder are very similar to, but quantitatively milder than, those for patients with schizophrenia. A 2004 study, however, reported neurological evidence that did "not entirely support the model that SPD is simply an attenuated form of schizophrenia".
Epidemiology
Reported prevalence of STPD in community studies ranges from 0.6% in a Norwegian sample, to 4.6% in an American sample. A large American study found a lifetime prevalence of 3.9%, with somewhat higher rates among men (4.2%) than women (3.7%). It may be uncommon in clinical populations, with reported rates of up to 1.9%.Together with other cluster A personality disorders, it is also very common among homeless people who show up at drop-in centres, according to a 2008 New York study. The study did not address homeless people who do not show up at drop-in centres.Cannabis users, whether that be a lifetime use, abuse or dependence, have been found to have an increased likelihood of possessing schizotypal personality disorder or traits consistent with STPD. Another epidemiological study on suicidal behavior in STPD found that, even when accounted for sociodemographic factors, people with STPD were 1.51 times more likely to attempt suicide. The same study found that people with childhood adversities, specifically abuse by a parent or caretaker, have a strongly significant association with lifetime STPD.
See also
Boundaries of the mind
DSM-5 codes (personality disorders)
Paranoid personality disorder
Schizoid personality disorder
Schizotypy
References
== External links == |
Bronchopneumonia | Bronchopneumonia is a subtype of pneumonia. It is the acute inflammation of the bronchi, accompanied by inflamed patches in the nearby lobules of the lungs.It is often contrasted with lobar pneumonia; but, in clinical practice, the types are difficult to apply, as the patterns usually overlap. Bronchopneumonia (lobular) often leads to lobar pneumonia as the infection progresses. The same organism may cause one type of pneumonia in one patient, and another in a different patient.
Causes
Bronchopneumonia is usually a bacterial pneumonia rather than being caused by viral disease.It is more commonly a hospital-acquired pneumonia than a community-acquired pneumonia, in contrast to lobar pneumonia.Bronchopneumonia is less likely than lobar pneumonia to be associated with Streptococcus pneumoniae. Rather, the bronchopneumonia pattern has been associated mainly with the following: Staphylococcus aureus, Klebsiella, E. coli and Pseudomonas.
Pathology
Bronchopneumonia may sometimes be diagnosed after death, during autopsy.
On gross pathology there are typically multiple foci of consolidation present in the basal lobes of the human lung, often bilateral. These lesions are 2–4 cm in diameter, grey-yellow, dry, often centered on a bronchiole, poorly delimited, and with the tendency to confluence, especially in children.
Light microscopy typically shows neutrophils in bronchi, bronchioles and adjacent alveolar spaces.
Treatment
Compared to pneumonia in general, the association between the bronchopneumonia pattern and hospital-acquired pneumonia warrants greater consideration of multiple drug resistance in the choice of antibiotics.
See also
Lobar pneumonia
== References == |
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