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<s>[INST] Who is at risk for Umbilical hernia? [/INST] Infants African Americans Patients with the following pre-existing diseases: Mucopolysaccharide storage disease Beckwith-Wiedemann syndrome Down syndrome </s> |
<s>[INST] How to know you have Umbilical hernia? [/INST] The doctor can find the hernia during a physical exam. </s> |
<s>[INST] What are the symptoms of VIPoma ? [/INST] Abdominal pain and cramping Diarrhea (watery, and often in large amounts) Flushing or redness of the face Nausea Weight loss </s> |
<s>[INST] What causes VIPoma ? [/INST] VIPoma causes cells in the pancreas to produce high levels of a hormone called vasoactive intestinal peptide (VIP). This hormone increases secretions from the intestines and relaxes some of the smooth muscles in the GI system.
The cause is not known. </s> |
<s>[INST] Who is at highest risk for VIPoma ? [/INST] VIPomas are usually diagnosed in adults, most commonly at age 50. Women are more likely to be affected than men. This cancer is rare, affecting an estimated 1 in 10 million people per year. </s> |
<s>[INST] When to seek urgent medical care when I have VIPoma ? [/INST] Call your health care provider if:
You develop symptoms of VIPoma </s> |
<s>[INST] What to expect if I have VIPoma (Outlook/Prognosis)? [/INST] Surgery can usually cure VIPomas. However, in one-third to one-half of patients, the tumor has spread by the time of diagnosis and cannot be cured. </s> |
<s>[INST] What are the symptoms of Whipple's disease? [/INST] Symptoms usually start slowly. Joint pain is the most common initial symptom. After that, often several years later, symptoms of gastrointestinal infection develop. Other symptoms may include:
Abdominal pain Diarrhea Fever Gray to brown skin color Joint pain in the ankles, knees, elbows, fingers, or other areas Memory loss Personality changes Weight loss </s> |
<s>[INST] What causes Whipple's disease? [/INST] Whipple's disease is caused by bacteria named Tropheryma whipplei. It can affect any system of the body, but occurs most often in the small intestine. Lesions appear on the wall of the small intestine and thicken the tissue. The villi —tiny, finger-like protrusions from the wall that help absorb nutrients —are damaged. </s> |
<s>[INST] Who is at highest risk for Whipple%27s disease ? [/INST] Although risk factors for Whipple's disease are unknown, the disorder mainly affects middle-aged white men. </s> |
<s>[INST] When to seek urgent medical care when I have Whipple%27s disease ? [/INST] Call your healthcare provider if you have persistent abdominal pain and diarrhea.
If you are being treated for Whipple's disease, call your healthcare provider if:
Symptoms worsen or do not improve Symptoms reappear New symptoms develop </s> |
<s>[INST] What are the symptoms of Wilson%27s disease ? [/INST] Abnormal posture of arms and legs Confusion or delirium Dementia Difficulty moving arms and legs, stiffness Difficulty walking (ataxia) Emotional or behavioral changes Enlargement of the abdomen (abdominal distention) Personality changes Phobias, distress (neuroses) Slow movements Slow or decreased movement and expressions of the face Speech impairment Tremors of the arms or hands Uncontrollable movement Unpredictable and jerky movement Vomiting blood Weakness Yellow skin (jaundice) or yellow color of the white of the eye (icterus) </s> |
<s>[INST] Who is at highest risk for Wilson%27s disease ? [/INST] Wilson's disease is a rare inherited disorder. If both parents carry an abnormal gene for Wilson's disease, there is a 25% chance in each pregnancy that the child will have the disorder.
Wilson's disease causes the body to take in and keep too much copper. The copper deposits in the liver, brain, kidneys, and the eyes. The deposits of copper cause tissue damage, death of the tissues, and scarring, which causes the affected organs to stop working correctly.
This condition is most common in eastern Europeans, Sicilians, and southern Italians, but may occur in any group. Wilson's disease typically appears in people under 40 years old. In children, the symptoms begin to show by age 4. </s> |
<s>[INST] When to seek urgent medical care when I have Wilson%27s disease ? [/INST] Call your health care provider if you have symptoms of Wilson's disease. Call a genetic counselor if you have a history of Wilson's disease in your family and you are planning to have children. </s> |
<s>[INST] What to expect if I have Wilson%27s disease (Outlook/Prognosis)? [/INST] Lifelong treatment is needed to control Wilson's disease. The disorder may cause fatal effects, especially loss of liver function and toxic effects of copper on the nervous system. In cases where the disorder is not fatal, symptoms may be disabling. </s> |
<s>[INST] What are the symptoms of Aarskog-Scott syndrome? [/INST] Symptoms of Aarksog-Scott syndrome:
Distinct facial features such as: a downward slant to the eyes, hairline with a " widow's peak, a long area between the nose and mouth (philtrum), poorly developed midportion of the face and overall rounding of the face, small nose with nostrils tipped forward, wide-set eyes (hypertelorism) with droopy eyelids, and a wide groove above the upper lip, crease below the lower lip Other body features: belly button that sticks out, bulge in the groin or scrotum (inguinal hernia) or soft out-pouching around the belly button (umbilical hernia), delayed dental development, mildly sunken chest (pectus excavatum), mild to moderate short stature which may not be obvious until the child is 1 - 3 years old, short fingers and toes with mild webbing (syndactyly), single crease in palm of hand (simian crease), small, broad hands and feet with short fingers (brachydactyly) and curved-in 5th finger (fifth finger clinodactyly), and top portion of the ear folded over slightly of the ear folded over slightly Reproductive development issues: delayed sexual maturation, shawl scrotum in which the scrotum surrounds the penis; less often, males have undescended testiles (cryptorchidism) Mild to moderate neurological delay
Some people with Aarskog-Scott syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). </s> |
<s>[INST] What causes Aarskog-Scott syndrome? [/INST] Aarskog syndrome is a genetic disorder. It affects mainly males, but females may have a milder form. The condition is caused by changes (mutations) in a gene called " faciogenital dysplasia " (FGDY1). Only about 20 percent of people with this disorder have identifiable mutations in the FGD1 gene. The cause of Aarskog-Scott syndrome in other affected individuals is unknown. </s> |
<s>[INST] Who is at highest risk for Aarskog-Scott syndrome? [/INST] Aarskog-Scott syndrome is a genetic disorder. Anyone with a family history of Aarskog-Scott syndrome is at risk. Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause Aarskog-Scott syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. </s> |
<s>[INST] How to know you have Aarskog-Scott syndrome? [/INST] Genetic testing for mutations in the FGDY1 gene X-rays </s> |
<s>[INST] What are the symptoms of Achondroplasia? [/INST] All people with achondroplasia have short stature. The average height of an adult male with achondroplasia is 131 centimeters (4 feet, 4 inches), and the average height for adult females is 124 centimeters (4 feet, 1 inch).
Characteristic features of achondroplasia include:
Bowed legs Diminished stature A trunk of average size Arms of diminished length, particuarly the upper arms (termed rhizomelic shortening) Thighs of diminished length (termed rhizomelic shortening) The range of motion of the elbows is limited The head is enlarged, and the forehead is prominent The fingers and toes are of diminished in length Spinal stenosis may be present Kyphosis (convex curvature of the spine) may be present Lordosis (concave curvature of the spine) may be present Normal intelligence is generally present </s> |
<s>[INST] What causes Achondroplasia? [/INST] Mutations in the FGFR3 gene cause achondroplasia. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Two specific mutations in the FGFR3 gene are responsible for almost all cases of achondroplasia. Researchers believe that these mutations cause the protein to be overly active, which interferes with skeletal development and leads to the disturbances in bone growth seen with this disorder.
Achondroplasia is inherited in an autosomal dominant pattern so one copy of the altered gene in each cell is sufficient to cause the disorder. In the majority of cases, the parents do not carry the mutation, and the mutation occurs spontaneously in the child.
Individuals who inherit two altered copies of this gene typically have very severe problems with bone growth, and are usually stillborn or die shortly after birth from respiratory failure. </s> |
<s>[INST] Who is at highest risk for Achondroplasia ? [/INST] A person is most likely to be affected by achondroplasia if one or both of his parents are affected by it. In so far as achondroplasia is inherited as an autosomal dominant disorder (if either parent transmits a copy of the gene, then the child will develop the disease), there is 50 % chance that the child will develop achondroplasia if one parent has achondroplasia. The risk of the child developing the diseases rises to 75% if both parents have achondroplasia. </s> |
<s>[INST] When to seek urgent medical care when I have Achondroplasia ? [/INST] If there is a family history of achondroplasia and you plan to have children, you may find it helpful to speak to your health care provider. </s> |
<s>[INST] What to expect if I have Achondroplasia (Outlook/Prognosis)? [/INST] People with achondroplasia seldom reach 5 feet in height. Intelligence is in the normal range.
Dwarfism itself is not a disease. However, there is a greater risk of some health problems for people affected by Dwarfism. With proper medical care, most people with dwarfism have active lives and live as long as other people.
Infants who receives the abnormal gene from both parents do not often live beyond a few months. </s> |
<s>[INST] What are the symptoms of Ataxia? [/INST] Symptoms may include:
Inability to stand without swaying A uneven gait that may look like the person is drunk Involuntary shifting of the eyes (nystagmus) Unusual speech patterns such as: Monotonous tone Either rushing words or placing large gaps between syllables Impaired motions Tremors in the limbs, particularly towards the end of movements
A patient with ataxia may also experience other neurological symptoms such as dementia, seizures, or a wide array of other disorders. </s> |
<s>[INST] What causes Ataxia? [/INST] When there is a problem in the communication between parts of the brain that control movement, ataxia results. Some forms of ataxia are inherited. Such forms include:
Friedreich ataxia Type 1 and Type 2 Episodic ataxia Fragile X tremor/ataxia syndrome Types 1-28 of Spinocerebellar ataxia
Other inherited causes of ataxia include:
Metabolic disorders Dentatorubro-palidoluysian atrophy Wilson's disease Vitamin E dificiency
Other causes of ataxia that are not inherited include:
Multiple sclerosis Malabsorption of Vitamin E Brain tumor Brain lesion Toxins Infection such as HIV, syphilis, or prion disease Paraneoplastic syndrome Cerebellar form of multiple system atrophy </s> |
<s>[INST] Who is at highest risk for Ataxia ? [/INST] Those who have a family history of inherited ataxia may be at higher risk for developing ataxia. Genetic testing may be recommended in these cases. </s> |
<s>[INST] When to seek urgent medical care when I have Ataxia ? [/INST] Many neurological disorders have ataxia as a symptom. Therefore, if you think you might be experiencing ataxia, you should make an appointment with your medical care professional. </s> |
<s>[INST] What to expect if I have Ataxia (Outlook/Prognosis)? [/INST] Outlook varies widely depending on the cause of the ataxia and whether or not a serious condition is the underlying cause of the ataxia. </s> |
<s>[INST] What are the symptoms of Down syndrome? [/INST] Down syndrome symptoms vary from person to person and can range from mild to severe. However, children with Down syndrome have a widely recognized appearance. The head may be smaller than normal and abnormally shaped. For example, the head may be round with a flat area on the back. The inner corner of the eyes may be rounded instead of pointed. Common physical signs include:
Decreased muscle tone at birth Excess skin at the nape of the neck Flattened nose Separated joints between the bones of the skull (sutures) Single crease in the palm of the hand Small ears Small mouth Upward slanting eyes Wide, short hands with short fingers White spots on the colored part of the eye (Brushfield spots)
Physical development is often slower than normal. Most children with Down syndrome never reach their average adult height.
Children may also have delayed mental and social development. Common problems may include:
Impulsive behavior Poor judgment Short attention span Slow learning
As children with Down syndrome grow and become aware of their limitations, they may also feel frustration and anger.
Many different medical conditions are seen in people with Down syndrome, including:
Birth defects involving the heart, such as an atrial septal defect or ventricular septal defect Dementia may be seen Eye problems, such as cataracts (most children with Down syndrome need glasses) Early and massive vomiting, which may be a sign of a gastrointestinal blockage, such as esophageal atresia and duodenal atresia Hearing problems, probably caused by regular ear infections Hip problems and risk of dislocation Long-term (chronic) constipation problems Sleep apnea (because the mouth, throat, and airway are narrowed in children with Down syndrome) Teeth that appear later than normal and in a location that may cause problems with chewing Underactive thyroid (hypothyroidism) </s> |
<s>[INST] Who is at highest risk for Down syndrome ? [/INST] Experts recommend genetic counseling for persons with a family history of Down syndrome who wish to have a baby. A woman's risk of having a child with Down syndrome increases as she gets older. The risk is significantly higher among women age 35 and older. Couples who already have a baby with Down syndrome have an increased risk of having another baby with the condition. Tests such as nuchal translucency ultrasound, amniocentesis, or chorionic villus sampling can be done on a fetus during the first few months of pregnancy to check for Down syndrome. The American College of Obstetricians and Gynecologists recommends offering Down syndrome screening tests to all pregnant women, regardless of age. </s> |
<s>[INST] When to seek urgent medical care when I have Down syndrome ? [/INST] A health care provider should be consulted to determine if the child needs special education and training. It is important for the child to have regular check ups with his or her doctor. </s> |
<s>[INST] What are the symptoms of Fragile X syndrome? [/INST] The physical features of Fragile X syndrome is prominent around the time of puberty. Physical features include:
Large and protruding ears Elongated face Macroorchidism (large testicles in men after puberty) Flat foot High Arched palate Hyperflexible finger joints Low muscle tone
The common features in child with Fragile X Syndrome include low IQ with learning difficulties (intellectual disabilities). Behavioral abnormalities includes stereotypic movements (e.g., hand- flapping) hyperactivity, i nattention, poor social interaction, limited eye contact and poor memory. Child with Fragile X syndrome often presents with developmental delay (including delayed attainment of motor and language milestones). Approximately, 20% of boy with Fragile X syndrome develops seizures (mostly simple or complex partial seizures) </s> |
<s>[INST] What are the causes of Fragile X syndrome? [/INST] Fragile x Syndrome is a genetic disease which is caused by mutation in the Fragile x Mental Retardation 1(FMR1) gene in X chromosome. Generally, these mutation (>200 repeats of CGG) occurs at in the 5' untranslated region of FMR1. In around 2% of cases, Fragile X syndrome can occur as a result of point mutation in FMR1 gene.
Normally, the FMR1 gene makes a protein you need for your brain to grow properly. A defect in this gene makes your body produce too little of the protein, or none at all.
Boys and girls can both be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely. You can have Fragile X syndrome even if your parents do not have it. </s> |
<s>[INST] Who is at highest risk for Fragile X syndrome ? [/INST] There are no established risk factors for Fragile X syndrome. However, the child with family history of Fragile x Syndrome, autism disorder of unknown cause, developmental delay, adult onset ataxia/tremor or any intellectual disabilities are at greater risk of developing the disorder. </s> |
<s>[INST] How to know you have Fragile X syndrome? [/INST] The diagnosis of Fragile X Syndrome is based upon detection of an alteration in the fragile X mental retardation 1 (FMR1) gene. Clinically, mentally retarded child with family history of Fragile X syndrome (especially a male relative) have higher chance of inheriting the disease. There are very few outward signs of Fragile X syndrome in babies. Babies may have a large head circumference. Measurement of oversized testes in males who have reached puberty may also suggest the diagnosis. An experienced geneticist may note subtle differences in facial characteristics. Mental retardation is the hallmark of this condition and, in females, this may be the only sign of the disease. A specific genetic test called polymerase chain reaction (PCR) is used to diagnose this disease. This test looks for an expanded mutation (called a triplet repea t) in the FMR1 gene. </s> |
<s>[INST] What are the possible complications? [/INST] Complications in Fragile X syndrome patient may include scoliosis or mitral valve prolapse (most frequently encountered cardiac defect). </s> |
<s>[INST] What are the symptoms of Gaucher's disease? [/INST] Symptoms vary depending on the type of disease, but may include:
Bone pain and fractures Cognitive impairment Easy bruising Enlarged spleen (splenomegaly) Enlarged liver (hepatomegaly) Fatigue Heart valve problems Lung disease Seizures Severe swelling (edema) at birth Skin changes </s> |
<s>[INST] What causes Gaucher's disease? [/INST] The lack of the glucocerebrosidase enzyme causes harmful substances to build up in the liver, spleen, bones, and bone marrow. The substances prevent cells and organs from working properly.
There are three main subtypes of Gaucher disease:
Type 1 disease is most common. It involves bone disease, anemia, an enlarged spleen and thrombocytopenia. Type I affects both children and adults. It is most common in the Ashkenazi Jewish population. Type 2 disease usually begins in infancy with severe neurologic involvement. This form can lead to rapid, early death. Type 3 disease may cause liver, spleen, and brain problems. Patients may live into adulthood. </s> |
<s>[INST] Who is at highest risk for Gaucher%27s disease ? [/INST] Gaucher disease affects an estimated 1 in 50,000 to 1 in 100,000 people in the general population. Persons of Eastern and Central European (Ashkenazi) Jewish heritage are at highest risk for the disease.
It is an autosomal recessive disease. This means that the mother and father must both pass one abnormal copy of the gene to the child in order for the child to develop the disease. A parent who silently carries an abnormal copy of the gene is called a carrier. </s> |
<s>[INST] What to expect if I have Gaucher%27s disease (Outlook/Prognosis)? [/INST] How well a person does depends on the subtype of the disease. The infantile form of Gaucher disease may lead to early death. Most affected children die before age 5.
Adults with the type 1 form of the disease can expect normal life expectancy with enzyme replacement therapy. </s> |
<s>[INST] Who provides it? [/INST] Genetic counseling is usually provided by genetic counselors. Genetic counselors are present at high risk or specialty prenatal clinics that offer prenatal diagnosis, pediatric care centers, and adult genetic centers.
A genetic counselor is a medical genetics expert with a master of science degree. In the USA they are certified by the American Board of Genetic Counseling . Most enter the field from a variety of disciplines, including biology, genetics, nursing, psychology, public health and social work.
Genetic counselors work as members of a health care team and act as a patient advocate as well as a genetic resource to physicians. Genetic counselors provide information and support to families who have members with birth defects or genetic disorders, and to families who may be at risk for a variety of inherited conditions. They identify families at risk, investigate the problems present in the family, interpret information about the disorder, analyze inheritance patterns and risks of recurrence and review available testing options with the family. </s> |
<s>[INST] What are the symptoms of Macrocephaly? [/INST] Increased pressure in the head (increased intracranial pressure) often occurs with increased head circumference. Symptoms of this condition include:
Eyes moving downward Irritability Vomiting </s> |
<s>[INST] What causes Macrocephaly? [/INST] Benign familial macrocephaly (family tendency toward large head size)
Canavan disease Hurler syndrome Hydrocephalus (congenital, post-traumatic, or obstructive) Intracranial bleeding Morquio syndrome </s> |
<s>[INST] When to seek urgent medical care when I have Macrocephaly ? [/INST] The health care provider usually finds macrocephaly during a routine well-baby exam.
The health care provider will take a medical history and will perform a physical examination.
Medical history questions may include: Time pattern When did you first notice that the baby's head seemed large? Does the baby's head size seem to be increasing faster compared to the growth of the body? Location Does the head seem larger all over? Is the head growing more in a front-to-back pattern or in a side-to-side pattern? Other What other symptoms are present (especially changes in brain or nervous system functions)?
The distance is measured in centimeters or inches and compared with: Past measurments of a child's head circumference Normal ranges for a child's sex and age (weeks, months) -- based on normal growth rates of infants' and children's heads
A careful physical exam will be done. Other milestones for growth and development will be checked.
In some cases, a single measurement is enough to confirm that there is a size increase that needs to be tested further. More often, repeated measurements of the head circumference over a period of time are needed to confirm that the head circumference is increased and the problem is getting worse.
Diagnostic tests vary depending on the cause, but often include: Head CT scan MRI of the head </s> |
<s>[INST] What are the symptoms of Neuronal ceroid lipofuscinoses? [/INST] Abnormally increased muscle tone or spasm (myoclonus) Blindness or vision problems Dementia Lack of muscle coordination Mental retardation with decreasing mental function Movement disorder (choreoathetosis) Seizures Unsteady gait (ataxia) </s> |
<s>[INST] What causes Neuronal ceroid lipofuscinoses? [/INST] NCLS is a type of neurodegenerative disorder. It involves the buildup of an abnormal material called lipofuscin in the brain. Evidence suggests that NCLS is caused by problems with the brain's ability to remove and recycle proteins. </s> |
<s>[INST] Who is at highest risk for Neuronal ceroid lipofuscinosis ? [/INST] Lipofuscinoses are inherited as autosomal recessive traits. That means if both parents carry the trait, each child has:
A 1 in 4 chance of having the disease A 2 in 4 chance of not having the disease but carrying the trait A 1 in 4 chance of not having the disease and not being a carrier </s> |
<s>[INST] When to seek urgent medical care when I have Neuronal ceroid lipofuscinosis ? [/INST] Call your health care provider if your child shows symptoms of blindness or retardation. </s> |
<s>[INST] What to expect if I have Neuronal ceroid lipofuscinosis (Outlook/Prognosis)? [/INST] The younger the person is when the disease appears, the greater the risk for disability and early death. Those who develop the disease early can have vision problems that progress to blindness, and problems with mental function that get worse. If the disease emerges in the first year of life, death by age 10 is likely.
If the disease occurs in adulthood, symptoms will be milder with no vision loss and a normal life expectancy. </s> |
<s>[INST] What are the symptoms of Phenylketonuria? [/INST] Phenylalanine plays a role in the body's production of melanin, the pigment responsible for skin and hair color. Therefore, infants with the condition often have lighter skin, hair, and eyes than brothers or sisters without the disease.
Other symptoms may include:
Delayed mental and social skills Head size significantly below normal Hyperactivity Jerking movements of the arms or legs Mental retardation Seizures Skin rashes Tremors Unusual positioning of hands
If the condition is untreated or foods containing phenylalanine are not avoided, a "mousy" or "musty" odor may be detected on the breath and skin and in urine. The unusual odor is due to a build up of phenylalanine substances in the body. </s> |
<s>[INST] What causes Phenylketonuria? [/INST] Phenylketonuria (PKU) is inherited, which means it is passed down through families. Both parents must pass on the defective gene in order for a baby to have the condition. This is called an autosomal recessive trait.
Babies with PKU are missing an enzyme called phenylalanine hydroxylase, which is needed to break down an essential amino acid called phenylalanine. The substance is found in foods that contain protein.
Without the enzyme, levels of phenylalanine and two closely-related substances build up in the body. These substances are harmful to the central nervous system and cause brain damage. </s> |
<s>[INST] When to seek urgent medical care when I have Phenylketonuria ? [/INST] Call your health care provider if your infant has not been tested for PKU. This is particularly important if anyone in your family has the disorder. </s> |
<s>[INST] What to expect if I have Phenylketonuria (Outlook/Prognosis)? [/INST] The outcome is expected to be very good if the diet is closely followed, starting shortly after the child's birth. If treatment is delayed or the condition remains untreated, brain damage will occur. School functioning may be mildly impaired.
If proteins containing phenylalanine are not avoided, PKU can lead to mental retardation by the end of the first year of life. </s> |
<s>[INST] What are the symptoms of Polycystic kidney disease? [/INST] Abdominal pain or tenderness Blood in the urine Excessive urination at night Flank pain on one or both sides
Additional symptoms that may be associated with this disease include the following:
Drowsiness High blood pressure Joint pain Nail abnormalities Painful menstruation </s> |
<s>[INST] What causes Polycystic kidney disease? [/INST] Polycystic kidney disease (PKD) is passed down through families (inherited), usually as an autosomal dominant trait. If one parent carries the gene, the children have a 50% chance of developing the disorder.
Autosomal dominant PKD occurs in both children and adults, but it is much more common in adults, with symptoms often not showing up until middle age. It affects nearly 1 in 1,000 Americans. The actual number may be more, as some people do not have symptoms. The disorder may not be discovered unless tests revealing the disease are performed for other reasons.
An autosomal recessive form of polycystic kidney disease also exists and appears in infancy or childhood. This type tends to be very serious and progresses rapidly, resulting in end-stage kidney failure and generally causing death in infancy or childhood.
Persons with PKD have multiple clusters of cysts form on the kidneys. The exact action that triggers cyst formation is unknown. In early stages of the disease, the cysts cause the kidney to swell, disrupting kidney function and leading to chronic high blood pressure and kidney infections. The cysts may cause the kidneys to increase production of erythropoietin, a hormone that stimulates production of red blood cells. This leads to too many red blood cells, rather than the anemia seen in chronic kidney disease.
Bleeding in a cyst can cause flank pain. Kidney stones are more common in people with PKD.
PKD is associated with the following conditions:
Brain aneurysms Cysts in the liver, pancreas, and testes Diverticula of the colon
As many as half of people with PKD have cysts on the liver. </s> |
<s>[INST] When to seek urgent medical care when I have Polycystic kidney disease ? [/INST] Call your health care provider if symptoms indicate polycystic kidney disease may be present.
Call for an appointment with your health care provider if there is a family history of polycystic kidney disease or associated disorders and children are planned. Genetic counseling may be offered. </s> |
<s>[INST] Who is at highest risk for Polycystic kidney disease ? [/INST] A personal or family history of PKD increases your risk for the condition. In a family with several members with PKD, genetic tests can be done to determine whether a person at risk carries the PKD gene. </s> |
<s>[INST] What to expect if I have Polycystic kidney disease (Outlook/Prognosis)? [/INST] The disease gets worse slowly, eventually resulting in end-stage kidney failure. It is also associated with liver disease, including infection of liver cysts.
Medical treatment may provide relief of symptoms for many years.
The absence of systemic disease or autoimmune disease makes people with polycystic kidney disease good candidates for kidney transplantation. </s> |
<s>[INST] What are the symptoms of progeria? [/INST] Children with progeria usually look normal at birth and in early infancy. However, within a year, affected children grow slowly and become much shorter and weigh much less than peers. They appear a characteristic facial appearance, including the following:
Prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, and protruding ears. Bald, aged-looking skin, a loss of fat under the skin Hair loss Joint abnormalities
Also, they suffer from symptoms typically seen in much older people, such as coronary artery disease, cataracts, osteoarthritis and stroke. Death occurs on average at age 13, usually from heart attack or stroke. </s> |
<s>[INST] Who is at highest risk for Progeria ? [/INST] Progeria is a very rare disease in the world. The cause is not clear. Researchers found that mutations in the LMNA gene may be associated with progeria. The LMNA gene provides instructions for making lamin A protein, which is the structural scaffolding that holds the nucleus of a cell together. Researches demonstrate that the defective Lamin A protein makes the nucleus unstable. </s> |
<s>[INST] When to seek urgent medical care when I have Progeria ? [/INST] Some children with progeria suffer from symptoms of coronary artery disease and stroke, which often appear in old people. These diseases may be severe and fatal. If your child experience either of the following symptoms, seeking urgent medical care as soon as possible:
Chest pain Shortness of breath Palpitation Diaphoresis Headache Hemiplegia and muscle weakness of the face Numbness Reduction in sensory or vibratory sensation Loss of consciousness </s> |
<s>[INST] What to expect if I have Progeria (Outlook/Prognosis)? [/INST] Prognosis of children with progeria is very poor. They may suffer from diseases such as coronary artery disease, cataracts, osteoarthritis and stroke. Death occurs on average at age 13, usually from heart attack or stroke. </s> |
<s>[INST] What are the symptoms of Spinal muscular atrophy? [/INST] Infants with SMA type I (the most severe form of SMA) are born with very decreased muscle tone, weak muscles, and feeding and breathing problems. With SMA type III (the mildest form), symptoms may not appear until the second year of life.
Often, weakness is first noted in the shoulder muscles and proximal leg muscles. Weakness gets worse over time and will eventually become severe.
Symptoms in an infant:
Breathing difficulty Feeding difficulty Floppy infant (poor muscle tone) Lack of head control Little spontaneous movement Progressive weakness (older infant to toddler) Very weak infant
Symptoms in a child:
Frequent, increasingly severe respiratory infections Nasal speech Worsening posture </s> |
<s>[INST] What causes Spinal muscular atrophy? [/INST] Spinal muscular atrophy (SMA) is a collection of different muscle diseases. Grouped together, it is the second leading cause of neuromuscular disease. Most of the time, a person must get the defective gene from both parents to be affected. Approximately, 4 out of every 100,000 people have the condition.
The most severe form is SMA type I, also called Werdnig-Hoffman disease. Infants with SMA type II have less severe symptoms during early infancy, but they become progressively weaker with time. SMA type III is the least severe form of the disease.
Rarely, SMA may begin in adulthood. This is usually a milder form of the disease.
A family history of spinal muscular atrophy is a risk factor for all types of the disorder. </s> |
<s>[INST] Possible Complications? [/INST] Aspiration Contractions of muscles and tendons Respiratory infections Scoliosis </s> |
<s>[INST] When to Contact a Medical Professional? [/INST] Call your health care provider if your child:
Appears weak Develops any other symptoms of spinal muscular atrophy Has difficulty feeding
Breathing difficulty can rapidly become an emergency condition. </s> |
<s>[INST] What are the symptoms of Tay-Sachs disease? [/INST] The most common form of Tay-Sachs disease becomes apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with Tay-Sachs disease experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with this severe infantile form of Tay-Sachs disease usually live only into early childhood.
Other forms of Tay-Sachs disease are very rare. Signs and symptoms can appear in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form. Characteristic features include muscle weakness, loss of muscle coordination (ataxia) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Tay-Sachs disease. </s> |
<s>[INST] Who is at risk for Tay-Sachs disease? [/INST] Tay-Sachs disease is an autosomal recessive condition, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Tay-Sachs disease is very rare in the general population. The genetic mutations that cause this disease are more common in people of Ashkenazi (eastern and central European) Jewish heritage than in those with other backgrounds. The mutations responsible for this disease are also more common in certain French-Canadian communities of Quebec, the Old Order Amish community in Pennsylvania, and the Cajun population of Louisiana. </s> |
<s>[INST] When to seek urgent medical care when I have Tay-Sachs disease ? [/INST] See your doctor immediately if your child displays any of the symptoms listed above </s> |
<s>[INST] What are the symptoms of Alzheimer's disease? [/INST] Dementia symptoms involve difficulty with many areas of mental function, including:
Language Memory Perception Emotional behavior or personality Cognitive skills (such as calculation, abstract thinking, or judgment)
Dementia usually first manifests as forgetfulness.
Mild cognitive impairment is the stage between normal forgetfulness due to aging and the development of AD. People with MCI have mild problems with thinking and memory that do not interfere with everyday activities. They are often aware of the forgetfulness. Not everyone with MCI develops AD.
Symptoms of mild cognitive impairment include:
Forgetting recent events or conversations Difficulty performing more than one task at a time Difficulty solving problems Taking longer than normal to perform more difficult activities
The early symptoms of AD can include:
Language problems, such as trouble finding the name of familiar objects Misplacing items Getting lost on familiar routes Personality changes and loss of social skills Losing interest in things previously enjoyed; flat mood Difficulty performing tasks that require some thought, but which used to come easily (e.g., balancing a checkbook, playing complex games such as bridge, and learning new information or routines)
As the AD becomes worse, symptoms become more obvious and interfere with the patient's ability to take care of himself/herself. Symptoms can include:
Forgetting details about current events Forgetting events in your own life history, losing awareness of who you are Change in sleep patterns, often waking up at night Difficulty reading or writing Poor judgment and loss of ability to recognize danger Using the wrong word, mispronouncing words, speaking in confusing sentences Withdrawing from social contact Having hallucinations, arguments, striking out, and exhibiting violent behavior Having delusions; experiencing depression and/or agitation Difficulty carrying out basic tasks, such as preparing meals, choosing proper clothing, and driving
People with severe AD can no longer:
Understand language Recognize family members Perform the basic activities of daily living, such as eating, dressing, and bathing
Other symptoms that may occur with AD:
Incontinence Swallowing problems </s> |
<s>[INST] What causes Alzheimer's disease? [/INST] Scientists do not yet fully understand what causes Alzheimer’s disease, but it is clear that it develops because of a complex series of events that take place in the brain over a long period of time. It is likely that the causes include genetic, environmental, and lifestyle factors. Because people differ in their genetic make-up and lifestyle, the importance of these factors in preventing or delaying Alzheimer’s differs from person to person. In a very small number of families, people develop Alzheimer’s disease in their 30s, 40s, and 50s. Many of these people have a mutation, or permanent change, in one of three genes that they inherited from a parent. We know that these gene mutations cause Alzheimer’s in these “early-onset” familial cases. Not all early-onset cases are caused by such mutations. Most people with Alzheimer’s disease have “late-onset” Alzheimer’s, which usually develops after age 60. Many studies have linked a gene called APOE to late-onset Alzheimer’s. This gene has several forms. One of them, APOE ε4, increases a person’s risk of getting the disease. About 40 percent of all people who develop late-onset Alzheimer’s carry this gene. However, carrying the APOE ε4 form of the gene does not necessarily mean that a person will develop Alzheimer’s disease, and people carrying no APOE ε4 forms can also develop the disease. Most experts believe that additional genes may influence the development of late-onset Alzheimer’s in some way. Scientists around the world are searching for these genes. Researchers have identified variants of the SORL1, CLU, PICALM, and CR1 genes that may play a role in risk of late-onset Alzheimer’s.
A nutritious diet, physical activity, social engagement, and mentally stimulating pursuits can all help people stay healthy. New research suggests the possibility that these factors also might help to reduce the risk of cognitive decline and Alzheimer’s disease. Scientists are investigating associations between cognitive decline and vascular and metabolic conditions such as heart disease, stroke, high blood pressure, diabetes, and obesity. Understanding these relationships and testing them in clinical trials will help us understand whether reducing risk factors for these diseases may help with Alzheimer’s as well. </s> |
<s>[INST] Who is at highest risk for Alzheimer%27s disease ? [/INST] Age and family history are the best-understood risk factors for AD.
As you get older, your risk of developing AD increases. Nonetheless, developing Alzheimer's disease is not a normal aspect of the aging process. Having a close blood relative, such as a brother, sister, or parent who developed AD increases your risk for developing AD. Having certain combination of genes for proteins that appear to be abnormal in Alzheimer's disease also increases your risk.
Other risk factors that are not as well understood include:
Longstanding high blood pressure History of head trauma Female gender </s> |
<s>[INST] When to seek urgent medical care when I have Alzheimer%27s disease ? [/INST] Call your health care provider if someone close to you experiences symptoms of senile dementia / Alzheimer's disease.
Call your health care provider if a person with this disorder experiences a sudden change in mental status. (A rapid change may indicate the presence of another illness.)
Discuss the situation with your health care provider if you are caring for a person with this disorder and the condition deteriorates to the point where you can no longer care for the person in your home. </s> |
<s>[INST] What to expect if I have Alzheimer%27s disease (Outlook/Prognosis)? [/INST] The trajectory of AD is different for each person. If AD develops quickly, it is more likely to worsen quickly. Patients with AD often die earlier than normal, although a patient may live anywhere from 3 to 20 years after being diagnosed. The final phase of the disease may last from a few months to several years. During that time, the patient becomes immobile and totally disabled. Death usually occurs from an infection or a failure of other body systems. </s> |
<s>[INST] Centenarians—What Makes Them the Anti-Aging All Stars? [/INST] One way to find what helps people live long healthy lives is to study those who have succeeded. Centenarians have written best selling books, excelled in sports, piloted airplanes, practiced medicine, danced, sculpted, taught in universities, graduated from universities, run for Congress, and even fathered children.
The current documented record holder for longevity was Jeanne Calment, a French woman who lived 122 years and died in 1997. There are reports of older people in some remote villages but there is no documentation to verify the claims (and they live in cultures that give great status to the oldest). Centenarians have become so common, the newest category is “Super Centenarians,” those 110+ years old.
The most definitive research on centenarians is Thomas Perls, MD and Margery’s Living to 100 study of New England centenarians. Interviews with centenarians include Lynn Adler ’s Centenarians: The Bonus Years and photographer Liane Enkelis ’ incredible photographs and stories in On Being 100. There are quite a few autobiographies and biographies including Jeanne Calment: From Van Gough’s Time to Ours.
Research suggests that centenarians have little in common physically. They are physically active people, most don’t smoke, and they typically maintained about the same body weight through their adult life.
The role of genetics in longevity is complex. A genetic vulnerability to a life threatening disease, e.g., malaria, reduces life expectancy. If a vaccine or cure is developed, the same genes no longer present a problem. With Alzheimer’s disease, for example, those with the certain apo-E gene patterns have a higher risk of developing Alzheimer’s. When scientists develop a cure, Alzheimer’s will no longer compromise the quality and length of life for those who are at risk.
There appear to be genes that foster living longer. Researchers have extended the life of fruit flies by 30% by giving them an extra copy of a gene. Other researchers extended the life of nematodes (microscopic worms) by 500% by removing a gene. It isn’t clear yet why the genetic engineering is extending the lives, but the results are promising.
Danish researchers compared identical and fraternal twins and extrapolated that only 30% of longevity is genetic. That means that 70% is lifestyle and the choices people make. George Valliant, Ph.D., and subsequent researchers have followed Harvard freshman in the classes from 1939-1949 periodically to the present. One especially notable finding was that men who had traits such as optimism and humor as freshmen were less likely to develop chronic illness or die by age 45. The difference was even more pronounced at age 60. </s> |
<s>[INST] What are the symptoms of Hearing impairment? [/INST] Symptoms of hearing loss may include:
Certain sounds seem too loud Difficulty following conversations when two or more people are talking Difficulty hearing in noisy areas Hard to tell high-pitched sounds (such as "s" or "th") from one another Less trouble hearing men's voices than women's voices Problems hearing when there is background noise Voices that sound mumbled or slurred
Other symptoms include:
Feeling of being off-balance or dizzy (more common with Meniere's disease and acoustic neuroma) Pressure in the ear (in fluid behind the eardrum) Ringing or buzzing sound in the ears (tinnitus) </s> |
<s>[INST] What are the causes of Hearing impairment? [/INST] Conductive hearing loss (CHL) occurs because of a mechanical problem in the outer or middle ear. The three tiny bones of the ear (ossicles) may not conduct sound properly or the eardrum may not vibrate in response to sound.
Causes of conductive hearing loss can often be treated. They include:
Buildup of wax in the ear canal Damage to the very small bones (ossicles) that are right behind the eardrum Fluid that stays in the ear after an ear infection Foreign object that is stuck in the ear canal Hole in the eardrum Scar on the eardrum from repeat infections
Sensorineural hearing loss (SNHL) occurs when the tiny hair cells (nerve endings) that detect sound in the ear are injured, diseased, do not work correctly, or have died. This type of hearing loss often cannot be reversed.
Sensorineural hearing loss is commonly caused by:
Acoustic neuroma Age-related hearing loss Childhood infections, such as meningitis, mumps, scarlet fever, and measles Meniere's disease Regular exposure to loud noises (such as from work or recreation) Use of certain medicines
Hearing loss may be present at birth (congenital) and can be due to:
Birth defects that cause changes in the ear structures Genetic conditions (more than 400 are known) Infections the mother passes to her baby in the womb (such as toxoplasmosis, rubella, or herpes)
The ear can also be injured by:
Pressure differences between the inside and outside of the eardrum, often from scuba diving Skull fractures (can damage the structures or nerves of the ear) Trauma from explosions, fireworks, gunfire, rock concerts, and earphones </s> |
<s>[INST] What are the symptoms of Neuralgia? [/INST] Increased sensitivity of the skin along the path of the damaged nerve, so that any touch or pressure is felt as pain Numbness along the path of the nerve In the same location each episode Sharp, stabbing May come and go (intermittent), or be constant, burning pain May get worse when the area is moved Weakness or complete paralysis of muscles supplied by the same nerve </s> |
<s>[INST] What causes Neuralgia? [/INST] Causes of neuralgia include:
Chemical irritation Chronic renal insufficiency Diabetes Infections, such as herpes zoster (shingles), HIV, Lyme disease, and syphilis Medications such as cisplatin, paclitaxel, or vincristine Porphyria Pressure on nerves by nearby bones, ligaments, blood vessels, or tumors Trauma (including surgery)
In many cases, the cause is unknown.
Postherpetic neuralgia and trigeminal neuralgia are the two most common forms of neuralgia. A related but less common neuralgia affects the glossopharyngeal nerve, which provides feeling to the throat. </s> |
<s>[INST] Who is at highest risk for Neuralgia ? [/INST] Neuralgia is more common in elderly people, but it may occur at any age. </s> |
<s>[INST] When to seek urgent medical care when I have Neuralgia ? [/INST] Contact your health care provider if:
You develop shingles You have symptoms of neuralgia, especially if over-the-counter pain medications do not relieve your pain You have severe pain (see a pain specialist) </s> |
<s>[INST] What to expect if I have Neuralgia (Outlook/Prognosis)? [/INST] Most neuralgias are not life-threatening and are not signs of other life-threatening disorders. However, pain can be severe. For severe pain that does not improve, see a pain specialist so that you can explore all treatment options.
Most neuralgias will respond to treatment. Attacks of pain usually come and go. However, attacks may become more frequent in some patients as they get older. </s> |
<s>[INST] What causes Nocturia? [/INST] Benign prostatic hyperplasia Certain drugs including diuretics, demeclocycline, lithium, methoxyflurane, phenytoin, and propoxyphene Chronic or recurrent urinary tract infection Chronic renal failure Congestive heart failure Cystitis Diabetes Drinking too much fluid before bedtime, particularly coffee, caffeinated beverages, or alcohol High blood calcium level Obstructive sleep apnea and other sleeping disorders </s> |
<s>[INST] When to seek urgent medical care when I have Nocturia ? [/INST] Make an appointment with your health care provider if:
Excessive nighttime urination continues over several days, and is not explained by medications or increase of fluids before bedtime You are bothered by the number of times you must urinate during the night </s> |
<s>[INST] What are the symptoms of Parkinson's disease? [/INST] Symptoms of Parkinson's disease vary with each individual and the stage of Parkinson's disease. In the early course, Parkinson's disease does not have any symptoms. As the disease developes, people may notice one or more of the following symptoms:
Tremor: Tremor is one of the most common signs of Parkinson's disease. It often affects in a hand, arm, or leg. It occurs when the person is awake and sitting or standing still, and subsides when the person moves the affected body part. Rigidity: Muscle stiffness often occurs in the limbs and neck. Later, the patient can not move an arm or leg normally and feel pain in the limb. Masked face: This appearance is cause by loss of movement in the muscles in the face. Patients with Parkinson's disease may feel it difficult to speak and swallow. Slowness of movement (bradykinesia) and impaired balance: In the later course of the disease, patients with Parkinson's disease are likely to take small steps and shuffle with the feet close together. They also have trouble in turning around and keeping balance. These abnormities may result in frequent falls. Freezing Constipation Dementia: Patients may appear progressively memory loss, losing interest in things they previously enjoyed, difficulty communicating, reading or writing, difficulty with performing tasks. With time goes on, more signs such as withdrawing from social contact, personality changes and inappropriate behavior may be observed. </s> |
<s>[INST] Who is at highest risk for Parkinson%27s disease ? [/INST] The cause of Parkinson's disease is unknown. Many researchers believe that a combination of several factors is involved in the development of this disease.
Free radicals Aging Environmental toxins Genetic predisposition </s> |
<s>[INST] When to seek urgent medical care when I have Parkinson%27s disease ? [/INST] Call your health care provider if symptoms of Parkinson's disaese develop. </s> |
<s>[INST] What to expect if I have Parkinson%27s disease (Outlook/Prognosis)? [/INST] The prognosis of Parkinson's disease varies from person to person. It depends on:
Whether the patient can be treated early Whether the patient can get a good care or not Whether the patient is accompanied with complications, such as pneumonia, dementia, falling injury or fracture. </s> |
<s>[INST] What are the symptoms of Adenomyosis? [/INST] Long-term or heavy menstrual bleeding Painful menstruation, which gets increasing worse Pelvic pain during intercourse
Note: In many cases, the woman may not have any symptoms. </s> |
<s>[INST] What causes Adenomyosis? [/INST] The cause is unknown. Sometimes adenomyosis may cause a mass or growth within the uterus, which is called an adenomyoma. </s> |
<s>[INST] Who is at highest risk for Adenomyosis ? [/INST] The disease usually occurs in women older than 30 who have had children. It is more likely in women with previous cesarean section or other uterine surgery. </s> |
<s>[INST] When to seek urgent medical care when I have Adenomyosis ? [/INST] Call for an appointment with your health care provider if you develop symptoms of adenomyosis. </s> |
<s>[INST] What to expect if I have Adenomyosis (Outlook/Prognosis)? [/INST] Symptoms usually go away after menopause. A hysterectomy completely relieves symptoms. </s> |
<s>[INST] What are the symptoms of Bartholin's abscess? [/INST] A tender lump on either side of the vaginal opening Fever Pain with sexual intercourse </s> |
<s>[INST] What causes Bartholin's abscess? [/INST] A Bartholin's abscess forms when a small opening (duct) from the gland gets blocked. Fluid in the gland builds up and may become infected. Fluid may build up over many years before an abscess occurs.
Often the abscess appears quickly over several days and become very hot and swollen. Activity that puts pressure on the vulva, and walking and sitting, may cause excruciating pain. </s> |
<s>[INST] When to seek urgent medical care when I have Bartholin%27s abscess ? [/INST] Call for an appointment with your health care provider if a painful, swollen lump is noted on the labia near the vaginal opening and does not improve with 2 - 3 days of home treatment. Call if pain is severe and interferes with normal activity.
Call your health care provider if you have one of these cysts and develop a fever higher than 100.4 degrees Fahrenheit. </s> |
<s>[INST] What to expect if I have Bartholin%27s abscess (Outlook/Prognosis)? [/INST] The chance of full recovery is excellent. About 10% of the time, abscesses recur.
It is important to treat any vaginal infection that may be diagnosed at the same time as the abscess. </s> |
<s>[INST] How is the Colposcopic biopsy done? [/INST] You will lie on a table and place your feet in stirrups to position your pelvis for examination. The health care provider will insert an instrument (speculum) into your vagina to open the vaginal walls and examine the cervix.
The cervix and vagina are gently swabbed with dilute vinegar (acetic acid). This removes the mucus that covers the surface and highlights abnormal areas. Sometime an iodine-based solution (Lugol's) similar to solutions used for cleaning skin may also be swabbed on the cervix and vagina.
The health care provider will place the colposcope at the opening of the vagina and examine the area. Photographs may be taken. The colposcope does not touch you.
If any areas look abnormal, a small sample of the tissue will be removed (biopsy) using small biopsy forceps. Many samples may be taken, depending on the size and location of the area. Sometimes a tissue sample from inside the cervix is removed. This is called endocervical curettage (ECC). </s> |
<s>[INST] Who needs Colposcopic biopsy? [/INST] Colposcopy is done to detect either cancer of the cervix or changes that may lead to cancer at an early stage.
This procedure is most often done when you have had an abnormal Pap smear. It may also be recommended if you have bleeding after sexual intercourse.
Colposcopy may also be done when your health care provider sees abnormal areas on your cervix during a pelvic exam. These may include:
Any abnormal growth on the cervix, or elsewhere in the vagina Genital warts or HPV Irritation or inflammation of the cervix (cervicitis)
The colposcopy may be used to keep track of HPV, and to look for abnormal changes that can come back after treatment. </s> |
Subsets and Splits