diff --git "a/test.csv" "b/test.csv" new file mode 100644--- /dev/null +++ "b/test.csv" @@ -0,0 +1,1179 @@ +question,answer,sample +What is (are) Treacher Collins syndrome ?,"Treacher Collins syndrome is a condition that affects the development of bones and other tissues of the face. The signs and symptoms of this disorder vary greatly, ranging from almost unnoticeable to severe. Most affected individuals have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Some people with this condition are also born with an opening in the roof of the mouth called a cleft palate. In severe cases, underdevelopment of the facial bones may restrict an affected infant's airway, causing potentially life-threatening respiratory problems. People with Treacher Collins syndrome often have eyes that slant downward, sparse eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Some affected individuals have additional eye abnormalities that can lead to vision loss. This condition is also characterized by absent, small, or unusually formed ears. Hearing loss occurs in about half of all affected individuals; hearing loss is caused by defects of the three small bones in the middle ear, which transmit sound, or by underdevelopment of the ear canal. People with Treacher Collins syndrome usually have normal intelligence.",30150 +Does granulocyte-colony stimulating factor activate JAK2/PI3K/PDE3B pathway to inhibit corticosterone synthesis in a neonatal hypoxic-ischemic brain injury rat model?,Our data suggest that the neuroprotective G-CSF reduces corticosterone synthesis at the adrenal level by degrading intracellular cAMP via activation of the JAK2/PI3K/PDE3B pathway.,30151 +What are the symptoms of Pachyonychia congenita ?,"The signs and symptoms of pachyonychia congenita (PC) vary based on the specific keratin gene involved (KRT6A, KRT6B, KRT6C, KRT16, and KRT17) and the specific gene mutation. However, the most common features of the condition include: Thickened nails Plantar hyperkeratosis (thickened skin on the soles of the feet) with underlying blisters Plantar pain Various types of cysts (i.e. steatocystoma and pilosebaceous cysts - two types of sebaceous gland cysts) Follicular hyperkeratosis (small bumps at the base of hairs) Leukokeratosis (white patches on the tongue, in the mouth, or on the inside of the cheek) Some affected people may also develop calluses on the palms of the hands (palmar hyperkeratosis), sores at the corner of the mouth; natal teeth; a hoarse cry or voice caused by white film on the larynx (voice box); and/or intense pain when beginning to eat or swallow. For more specific information on the signs and symptoms of PC, including specific features that are not associated with the condition, please visit the Pachyonychia Congenita Project's Web site. The Human Phenotype Ontology provides the following list of signs and symptoms for Pachyonychia congenita. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of nail color 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Hyperhidrosis 90% Abnormal blistering of the skin 50% Anonychia 50% Carious teeth 50% Ichthyosis 50% Neoplasm of the skin 50% Alopecia 7.5% Cataract 7.5% Cognitive impairment 7.5% Corneal dystrophy 7.5% Hepatomegaly 7.5% Laryngomalacia 7.5% Respiratory insufficiency 7.5% Autosomal dominant inheritance - Chapped lip - Dry hair - Epidermoid cyst - Follicular hyperkeratosis - Furrowed tongue - Gingivitis - Heterogeneous - Hoarse voice - Nail dysplasia - Nail dystrophy - Natal tooth - Onychogryposis of toenails - Oral leukoplakia - Palmar hyperkeratosis - Palmoplantar hyperhidrosis - Palmoplantar hyperkeratosis - Palmoplantar keratoderma - Plantar hyperkeratosis - Sparse eyebrow - Sparse scalp hair - Steatocystoma multiplex - Subungual hyperkeratosis - Thick nail - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30152 +What are the treatments for Congenital laryngeal palsy ?,"The most common treatments for vocal fold paralysis are voice therapy and surgery. Some people's voices will naturally recover sometime during the first year after diagnosis, which is why doctors often delay surgery for at least a year. During this time, a speech-language pathologist may be needed for voice therapy, which may involve exercises to strengthen the vocal folds or improve breath control while speaking. Patients may also learn how to use the voice differently, for example, by speaking more slowly or opening the mouth wider when speaking. Treatment may include: Corticosteroids: When there is an associated disease such as Wegener's granulomatosis, sarcoidosis or polychondritis. Medical treatment of the disease that lead to an inflammation of the cricoarytenoid joint ( gout) or the laryngeal mucosa such as syphilis and tuberculosis (resulting in mechanical attachment of the vocal cords) to improve breathing. Diabetes treatment: Can help to improve a neuropathy of the vocal cords caused by the diabetes mellitus. Treatment of reflux: When the condition is caused by the gastroesophageal reflux. Treatment of the eventual scarring of the arytenoid cartilages. Several surgical procedures depending on whether one or both of the vocal cords are paralyzed. The most common procedures change the position of the vocal fold. These may involve inserting a structural implant or stitches to reposition the laryngeal cartilage and bring the vocal folds closer together. These procedures usually result in a stronger voice. Surgery is followed by additional voice therapy to help fine-tune the voice: Functional procedures as microflap, laryngectomy (similar to tracheostomy) with subsequent cricoidotomia (removal of the cricoid cartilage) and cartilage graft and stent (or stent placement only) or reconstruction of the local mucosa with scar removal. Tracheotomy: May be required to help breathing. In a tracheotomy, an incision is made in the front of the neck and a breathing tube is inserted through an opening, called a stoma, into the trachea. Rather than occurring through the nose and mouth, breathing now happens through the tube. Following surgery, therapy with a speech-language pathologist helps you learn how to use the voice and how to properly care for the breathing tube Permanent treatments with removal of the vocal cords (unilateral or bilateral) or the arytenoid cartilage (endoscopic or external, partial or complete) or changing the position of the vocal cords. Other treatment may include: Reinnervation techniques (experimental) Electrical stimulation (experimental). Most cases of unilateral vocal cord paralysis do not need any treatment. Adopting a vertical position is sometimes enough to relieve breathing problems but in some patients it may require an intubation.",30153 +What is (are) androgen insensitivity syndrome ?,"Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have mostly female sex characteristics or signs of both male and female sexual development. Complete androgen insensitivity syndrome occurs when the body cannot use androgens at all. People with this form of the condition have the external sex characteristics of females, but do not have a uterus and therefore do not menstruate and are unable to conceive a child (infertile). They are typically raised as females and have a female gender identity. Affected individuals have male internal sex organs (testes) that are undescended, which means they are abnormally located in the pelvis or abdomen. Undescended testes can become cancerous later in life if they are not surgically removed. People with complete androgen insensitivity syndrome also have sparse or absent hair in the pubic area and under the arms. The partial and mild forms of androgen insensitivity syndrome result when the body's tissues are partially sensitive to the effects of androgens. People with partial androgen insensitivity (also called Reifenstein syndrome) can have normal female sex characteristics, both male and female sex characteristics, or normal male sex characteristics. They may be raised as males or as females, and may have a male or a female gender identity. People with mild androgen insensitivity are born with male sex characteristics, but are often infertile and tend to experience breast enlargement at puberty.",30154 +What is (are) Cholesteatoma ?,"Cholesteatoma is a type of skin cyst located in the middle ear. It can be congenital (present from birth), but it more commonly occurs as a complication of chronic ear infection. The hallmark symptom is a painless discharge from the ear. Hearing loss, dizziness, and facial muscle paralysis are rare but can result from continued cholesteatoma growth. Surgery can stop infections and prevent complications.",30155 +What is (are) Variant Creutzfeldt-Jakob disease ?,"There are several known variants of Creutzfeldt-Jakob disease (CJD). These variants differ somewhat in the symptoms and course of the disease. For example, a variant form of the disease-called new variant or variant (nv-CJD, v-CJD), described in Great Britain and France, begins primarily with psychiatric symptoms, and has a longer than usual duration from onset of symptoms to death. New variant CJD accounts for less than 1% of cases, and tends to affect younger people. It can result when someone is exposed to contaminated products. While classic CJD is not related to mad cow disease, new variant CJD (nvCJD) is an infectious form that is related to mad cow disease. The infection responsible for the disease in cows (bovine spongiform encephalitis) is believed to be the same one responsible for vCJD in humans. There have not been any cases of nvCJD reported in the U.S. Another variant, called the panencephalopathic form, occurs primarily in Japan and has a relatively long course, with symptoms often progressing for several years. Scientists are trying to gain a better understanding about what causes these variations in the symptoms and course of the disease.",30156 +Do sphingosine-kinase 1 and 2 contribute to oral sensitization and effector phase in a mouse model of food allergy?,Modulation of the S1P homeostasis by deletion of either SphK1 or SphK2 alters the sensitization and effector phase of food allergy.,30157 +Is placental STAT3 signaling activated in women with polycystic ovary syndrome?,Placental STAT3 signaling is activated but mTOR signaling is unaffected in PCOS.,30158 +Is Sandhoff disease inherited ?,"This condition is inherited in an autosomal recessive pattern, 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.",30159 +Is red blood cell distribution width an independent predictor of mortality in acute kidney injury patients treated with continuous renal replacement therapy?,Our study demonstrates that RDW could be an additive predictor for all-cause mortality in AKI patients on CRRT treatment in the ICU.,30160 +Does gαo repress insulin secretion by reducing vesicular docking in pancreatic beta-cells?,"Gαo is not required for endocrine islet cell differentiation, but it regulates the number of insulin vesicles docked on the β-cell membrane.",30161 +Is ratio of intratumoral macrophage phenotypes a prognostic factor in epithelioid malignant pleural mesothelioma?,"The total number of macrophages in tumor tissue did not correlate with OS in both groups, however, the CD163/CD68 ratio correlates with OS in the total patient group. Our data revealed that the CD163/CD68 ratio is a potential prognostic marker in epithelioid mesothelioma patients independent of treatment but cannot be used as a predictive marker for outcome after surgery.",30162 +Do clinical guidelines contribute to the health inequities experienced by individuals with intellectual disabilities?,"The equity lens is a useful tool to systematically examine whether clinical guidelines address the health needs and inequities experienced by disadvantaged groups. Clinical guidelines are likely to further widen the health inequities experienced by persons with intellectual disabilities, and other disadvantaged groups, by being preferentially advantageous to the general population. There is a need to systematically incorporate methods to consider disadvantaged population groups into the processes used to develop clinical guidelines.",30163 +What is (are) nonsyndromic holoprosencephaly ?,"Nonsyndromic holoprosencephaly is an abnormality of brain development that also affects the head and face. Normally, the brain divides into two halves (hemispheres) during early development. Holoprosencephaly occurs when the brain fails to divide properly into the right and left hemispheres. This condition is called nonsyndromic to distinguish it from other types of holoprosencephaly caused by genetic syndromes, chromosome abnormalities, or substances that cause birth defects (teratogens). The severity of nonsyndromic holoprosencephaly varies widely among affected individuals, even within the same family. Nonsyndromic holoprosencephaly can be grouped into four types according to the degree of brain division. From most to least severe, the types are known as alobar, semi-lobar, lobar, and middle interhemispheric variant (MIHV). In the most severe forms of nonsyndromic holoprosencephaly, the brain does not divide at all. These affected individuals have one central eye (cyclopia) and a tubular nasal structure (proboscis) located above the eye. Most babies with severe nonsyndromic holoprosencephaly die before birth or soon after. In the less severe forms, the brain is partially divided and the eyes are usually set close together (hypotelorism). The life expectancy of these affected individuals varies depending on the severity of symptoms. People with nonsyndromic holoprosencephaly often have a small head (microcephaly), although they can develop a buildup of fluid in the brain (hydrocephalus) that causes increased head size (macrocephaly). Other features may include an opening in the roof of the mouth (cleft palate) with or without a split in the upper lip (cleft lip), one central front tooth instead of two (a single maxillary central incisor), and a flat nasal bridge. The eyeballs may be abnormally small (microphthalmia) or absent (anophthalmia). Some individuals with nonsyndromic holoprosencephaly have a distinctive pattern of facial features, including a narrowing of the head at the temples, outside corners of the eyes that point upward (upslanting palpebral fissures), large ears, a short nose with upturned nostrils, and a broad and deep space between the nose and mouth (philtrum). In general, the severity of facial features is directly related to the severity of the brain abnormalities. However, individuals with mildly affected facial features can have severe brain abnormalities. Some people do not have apparent structural brain abnormalities but have some of the facial features associated with this condition. These individuals are considered to have a form of the disorder known as microform holoprosencephaly and are typically identified after the birth of a severely affected family member. Most people with nonsyndromic holoprosencephaly have developmental delay and intellectual disability. Affected individuals also frequently have a malfunctioning pituitary gland, which is a gland located at the base of the brain that produces several hormones. Because pituitary dysfunction leads to the partial or complete absence of these hormones, it can cause a variety of disorders. Most commonly, people with nonsyndromic holoprosencephaly and pituitary dysfunction develop diabetes insipidus, a condition that disrupts the balance between fluid intake and urine excretion. Dysfunction in other parts of the brain can cause seizures, feeding difficulties, and problems regulating body temperature, heart rate, and breathing. The sense of smell may be diminished (hyposmia) or completely absent (anosmia) if the part of the brain that processes smells is underdeveloped or missing.",30164 +Is pyridoxine-dependent epilepsy inherited ?,"This condition is inherited in an autosomal recessive pattern, 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.",30165 +What are the genetic changes related to infantile-onset spinocerebellar ataxia ?,"Mutations in the C10orf2 gene cause IOSCA. The C10orf2 gene provides instructions for making two very similar proteins called Twinkle and Twinky. These proteins are found in the mitochondria, which are structures within cells that convert the energy from food into a form that cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA or mtDNA, which is essential for the normal function of these structures. The Twinkle protein is involved in the production and maintenance of mtDNA. The function of the Twinky protein is unknown. The C10orf2 gene mutations that cause IOSCA interfere with the function of the Twinkle protein and result in reduced quantities of mtDNA (mtDNA depletion). Impaired mitochondrial function in the nervous system, muscles, and other tissues that require a large amount of energy leads to neurological dysfunction and the other problems associated with IOSCA.",30166 +What is (are) Graves disease ?,"Graves disease is a condition that affects the function of the thyroid, which is a butterfly-shaped gland in the lower neck. The thyroid makes hormones that help regulate a wide variety of critical body functions. For example, thyroid hormones influence growth and development, body temperature, heart rate, menstrual cycles, and weight. In people with Graves disease, the thyroid is overactive and makes more hormones than the body needs. The condition usually appears in mid-adulthood, although it may occur at any age. Excess thyroid hormones can cause a variety of signs and symptoms. These include nervousness or anxiety, extreme tiredness (fatigue), a rapid and irregular heartbeat, hand tremors, frequent bowel movements or diarrhea, increased sweating and difficulty tolerating hot conditions, trouble sleeping, and weight loss in spite of an increased appetite. Affected women may have menstrual irregularities, such as an unusually light menstrual flow and infrequent periods. Some people with Graves disease develop an enlargement of the thyroid called a goiter. Depending on its size, the enlarged thyroid can cause the neck to look swollen and may interfere with breathing and swallowing. Between 25 and 50 percent of people with Graves disease have eye abnormalities, which are known as Graves ophthalmopathy. These eye problems can include swelling and inflammation, redness, dryness, puffy eyelids, and a gritty sensation like having sand or dirt in the eyes. Some people develop bulging of the eyes caused by inflammation of tissues behind the eyeball and ""pulling back"" (retraction) of the eyelids. Rarely, affected individuals have more serious eye problems, such as pain, double vision, and pinching (compression) of the optic nerve connecting the eye and the brain, which can cause vision loss. A small percentage of people with Graves disease develop a skin abnormality called pretibial myxedema or Graves dermopathy. This abnormality causes the skin on the front of the lower legs and the tops of the feet to become thick, lumpy, and red. It is not usually painful.",30167 +What are the symptoms of Oculocutaneous albinism type 1B ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Oculocutaneous albinism type 1B. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Freckling 90% Generalized hypopigmentation 90% Hypopigmentation of hair 90% Ocular albinism 90% Strabismus 90% Abnormality of the macula 50% Melanocytic nevus 50% Nystagmus 50% Optic atrophy 50% Photophobia 50% Visual impairment 50% Neoplasm of the skin 7.5% Thickened skin 7.5% Albinism - Autosomal recessive inheritance - Hypopigmentation of the fundus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30168 +What are the symptoms of Prostate Cancer ?,"Symptoms Most cancers in their early, most treatable stages don't cause any symptoms. Early prostate cancer usually does not cause symptoms. However, if prostate cancer develops and is not treated, it can cause these symptoms: - a need to urinate frequently, especially at night - difficulty starting urination or holding back urine - inability to urinate - weak or interrupted flow of urine - painful or burning urination - difficulty in having an erection - painful ejaculation - blood in urine or semen - pain or stiffness in the lower back, hips, or upper thighs. a need to urinate frequently, especially at night difficulty starting urination or holding back urine inability to urinate weak or interrupted flow of urine painful or burning urination difficulty in having an erection painful ejaculation blood in urine or semen pain or stiffness in the lower back, hips, or upper thighs. Any of these symptoms may be caused by cancer, but more often they are due to enlargement of the prostate, which is not cancer. If You Have Symptoms If you have any of these symptoms, see your doctor or a urologist to find out if you need treatment. A urologist is a doctor who specializes in treating diseases of the genitourinary system. The doctor will ask questions about your medical history and perform an exam to try to find the cause of the prostate problems. The PSA Test The doctor may also suggest a blood test to check your prostate specific antigen, or PSA, level. PSA levels can be high not only in men who have prostate cancer, but also in men with an enlarged prostate gland and men with infections of the prostate. PSA tests may be very useful for early cancer diagnosis. However, PSA tests alone do not always tell whether or not cancer is present. PSA screening for prostate cancer is not perfect. (Screening tests check for disease in a person who shows no symptoms.) Most men with mildly elevated PSA do not have prostate cancer, and many men with prostate cancer have normal levels of PSA. A recent study revealed that men with low prostate specific antigen levels, or PSA, may still have prostate cancer. Also, the digital rectal exam can miss many prostate cancers. Other Tests The doctor may order other exams, including ultrasound, MRI, or CT scans, to learn more about the cause of the symptoms. But to confirm the presence of cancer, doctors must perform a biopsy. During a biopsy, the doctor uses needles to remove small tissue samples from the prostate and then looks at the samples under a microscope. If Cancer is Present If a biopsy shows that cancer is present, the doctor will report on the grade of the tumor. Doctors describe a tumor as low, medium, or high-grade cancer, based on the way it appears under the microscope. One way of grading prostate cancer, called the Gleason system, uses scores of 2 to 10. Another system uses G1 through G4. The higher the score, the higher the grade of the tumor. High-grade tumors grow more quickly and are more likely to spread than low-grade tumors.",30169 +What is (are) glycine encephalopathy ?,"Glycine encephalopathy, which is also known as nonketotic hyperglycinemia or NKH, is a genetic disorder characterized by abnormally high levels of a molecule called glycine. This molecule is an amino acid, which is a building block of proteins. Glycine also acts as a neurotransmitter, which is a chemical messenger that transmits signals in the brain. Glycine encephalopathy is caused by the shortage of an enzyme that normally breaks down glycine in the body. A lack of this enzyme allows excess glycine to build up in tissues and organs, particularly the brain, leading to serious medical problems. The most common form of glycine encephalopathy, called the classical type, appears shortly after birth. Affected infants experience a progressive lack of energy (lethargy), feeding difficulties, weak muscle tone (hypotonia), abnormal jerking movements, and life-threatening problems with breathing. Most children who survive these early signs and symptoms develop profound intellectual disability and seizures that are difficult to treat. For unknown reasons, affected males are more likely to survive and have less severe developmental problems than affected females. Researchers have identified several other types of glycine encephalopathy with variable signs and symptoms. The most common of these atypical types is called the infantile form. Children with this condition develop normally until they are about 6 months old, when they experience delayed development and may begin having seizures. As they get older, many develop intellectual disability, abnormal movements, and behavioral problems. Other atypical types of glycine encephalopathy appear later in childhood or adulthood and cause a variety of medical problems that primarily affect the nervous system. Rarely, the characteristic features of classical glycine encephalopathy improve with time. These cases are classified as transient glycine encephalopathy. In this form of the condition, glycine levels decrease to normal or near-normal after being very high at birth. Many children with temporarily high glycine levels go on to develop normally and experience few long-term medical problems. Intellectual disability and seizures occur in some affected individuals, however, even after glycine levels decrease.",30170 +What is (are) Small Intestine Disorders ?,"Your small intestine is the longest part of your digestive system - about twenty feet long! It connects your stomach to your large intestine (or colon) and folds many times to fit inside your abdomen. Your small intestine does most of the digesting of the foods you eat. It has three areas called the duodenum, the ileum, and the jejunum. Problems with the small intestine can include: - Bleeding - Celiac disease - Crohn's disease - Infections - Intestinal cancer - Intestinal obstruction - Irritable bowel syndrome - Ulcers, such as peptic ulcer Treatment of disorders of the small intestine depends on the cause.",30171 +"What is (are) Periodic fever, aphthous stomatitis, pharyngitis and adenitis ?","Periodic fever, aphthous stomatitis, pharyngitis, cervical adenitis (PFAPA) is a periodic disease, which is a heterogeneous group of disorders characterized by short episodes of illness that regularly recur for several years alternated with healthy periods. PFAPA is characterized by high fevers lasting three to six days and recurring every 21 to 28 days, accompanied by some or all of the signs noted in its name, namely mouth sores (aphthous stomatitis), sore throat (pharyngitis), and enlarged lymph nodes (cervical adenitis). The syndrome usually occurs in children younger than five years; although it has been reported in children up to 13 years. The syndrome is sporadic and non-hereditary. The course of PFAPA can be persistent for years before spontaneous, full resolution.",30172 +Does diameter of large balloons used in endoluminal graft deployment vary with inflation pressure?,The large balloon catheters tested in this study were designed for arterial angioplasty or valvuloplasty. They attained a significantly smaller size than their nominal diameter at pressures < 3 atm and became compliant at pressures exceeding 3 atm. Interventionists should be aware of these characteristics when using balloon catheters such as these during endoluminal graft deployment. Large balloons that reach predictable diameter at lower pressures should be designed specifically for use in endoluminal graft procedures.,30173 +Do dedicated emergency departments delay surgical treatment of acute appendicitis?,Introducing a new emergency service required an extra doctor for diagnosing appendicitis which delayed the overall time to definitive treatment by nearly 2.5 hours.,30174 +How many people are affected by otospondylomegaepiphyseal dysplasia ?,This condition is rare; the prevalence is unknown. Only a few families with OSMED have been reported worldwide.,30175 +Do subjective Discomfort Symptoms Are Related to Low Corneal Temperature in Patients With Evaporative Dry Eye?,"Subjective sensation of discomfort occurred earlier in patients with DE than in controls, in correlation to low corneal temperatures and enhanced tear evaporation.",30176 +Does postextrasystolic blood pressure potentiation predict poor outcome of cardiac patients?,"PESP, which likely reflects abnormalities of myocardial calcium cycling, predicts the mortality risk in postinfarction patients.",30177 +Is iron overload in a murine model of hereditary hemochromatosis associated with accelerated progression of osteoarthritis under mechanical stress?,HH was associated with an accelerated development of OA in mice. Our findings suggest that synovial iron overload has a definite role in the progression of HH-related OA.,30178 +Does thyroid resection improve perception of swallowing function in patients with thyroid disease?,"In patients with thyroid disease, uncomplicated thyroidectomy leads to significant improvements in many aspects of patient-reported swallowing-related QOL measured by the SWAL-QOL instrument.",30179 +Does perforations of right heart chambers associated with electrophysiology catheters and temporary transvenous pacing lead?,"Although right ventricular perforations detected early have a relatively benign course, those detected late and right atrial perforations require emergent surgical exploration and may have catastrophic consequences.",30180 +What are the treatments for leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ?,These resources address the diagnosis or management of LBSL: - Gene Review: Gene Review: Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation - Genetic Testing Registry: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30181 +What is (are) Paramyotonia congenita ?,"Paramyotonia congenita is an inherited condition that affects muscles used for movement (skeletal muscles), mainly in the face, neck, arms, and hands. Symptoms begin in infancy or early childhood and include episodes of sustained muscle tensing (myotonia) that prevent muscles from relaxing normally and lead to muscle weakness. Symptoms in paramyotonia congenita worsen during exposure to cold temperatures, and unlike many other forms of myotonia, worsen with exercise and repeated movements. This condition is caused by mutations in the SCN4A gene and is inherited in an autosomal dominant pattern.",30182 +What are the genetic changes related to primary sclerosing cholangitis ?,"Primary sclerosing cholangitis is thought to arise from a combination of genetic and environmental factors. Researchers believe that genetic changes play a role in this condition because it often occurs in several members of a family and because immediate family members of someone with primary sclerosing cholangitis have an increased risk of developing the condition. It is likely that specific genetic variations increase a person's risk of developing primary sclerosing cholangitis, and then exposure to certain environmental factors triggers the disorder. However, the genetic changes that increase susceptibility and the environmental triggers remain unclear. There is evidence that variations in certain genes involved in immune function influence the risk of developing primary sclerosing cholangitis. The most commonly associated genes belong to a family of genes called the human leukocyte antigen (HLA) complex. The HLA complex helps the immune system distinguish the body's own proteins from proteins made by foreign invaders (such as viruses and bacteria). Each HLA gene has many different normal variations, allowing each person's immune system to react to a wide range of foreign proteins. Specific variations of several HLA genes seem to be present more often in people with primary sclerosing cholangitis than in people who do not have the disorder. These variations may dysregulate the body's immune response, leading to the inflammation of the bile ducts in people with primary sclerosing cholangitis. However, the mechanism is not well understood. Researchers are also studying variations in other genes related to the body's immune function to understand how they contribute to the risk of developing this condition.",30183 +What are the treatments for Perrault syndrome ?,"These resources address the diagnosis or management of Perrault syndrome: - Gene Review: Gene Review: Perrault Syndrome - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance - Genetic Testing Registry: Perrault syndrome 2 - Genetic Testing Registry: Perrault syndrome 4 - Genetic Testing Registry: Perrault syndrome 5 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",30184 +What are the symptoms of Multiple epiphyseal dysplasia 4 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple epiphyseal dysplasia 4. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of epiphysis morphology 90% Osteoarthritis 90% Arthralgia 50% Cleft palate 50% Clinodactyly of the 5th finger 50% Patellar aplasia 50% Scoliosis 50% Talipes 50% Hearing abnormality 7.5% Short stature 7.5% Autosomal recessive inheritance - Brachydactyly syndrome - Epiphyseal dysplasia - Flat capital femoral epiphysis - Hip dysplasia - Hypoplasia of the femoral head - Limited elbow flexion - Multiple epiphyseal dysplasia - Short metacarpal - Talipes equinovarus - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30185 +What is the outlook for Primary CNS Lymphoma ?,"Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) depends on the following: - The patient's age and general health. - The level of certain substances in the blood and cerebrospinal fluid (CSF). - Where the tumor is in the central nervous system, eye, or both. - Whether the patient has AIDS. Treatment options depend on the following: - The stage of the cancer. - Where the tumor is in the central nervous system. - The patient's age and general health. - Whether the cancer has just been diagnosed or has recurred (come back). Treatment of primary CNS lymphoma works best when the tumor has not spread outside the cerebrum (the largest part of the brain) and the patient is younger than 60 years, able to carry out most daily activities, and does not have AIDS or other diseases that weaken the immune system.",30186 +What causes Crohn's Disease ?,"The exact cause of Crohn's disease is unknown. Researchers believe the following factors may play a role in causing Crohn's disease: + +- autoimmune reaction - genes - environment + +Autoimmune reaction. Scientists believe one cause of Crohn's disease may be an autoimmune reactionwhen a person's immune system attacks healthy cells in the body by mistake. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. Researchers believe bacteria or viruses can mistakenly trigger the immune system to attack the inner lining of the intestines. This immune system response causes the inflammation, leading to symptoms. + +Genes. Crohn's disease sometimes runs in families. Research has shown that people who have a parent or sibling with Crohn's disease may be more likely to develop the disease. Researchers continue to study the link between genes and Crohn's disease. + +Environment. Some studies suggest that certain things in the environment may increase the chance of a person getting Crohn's disease, although the overall chance is low. Nonsteroidal anti-inflammatory drugs,1 antibiotics,2 and oral contraceptives2 may slightly increase the chance of developing Crohn's disease. A high-fat diet may also slightly increase the chance of getting Crohn's disease.3 + +Some people incorrectly believe that eating certain foods, stress, or emotional distress can cause Crohn's disease. Emotional distress and eating certain foods do not cause Crohn's disease. Sometimes the stress of living with Crohn's disease can make symptoms worse. Also, some people may find that certain foods can trigger or worsen their symptoms.",30187 +What are the treatments for lung cancer ?,These resources address the diagnosis or management of lung cancer: - Genetic Testing Registry: Lung cancer - Genetic Testing Registry: Non-small cell lung cancer - Lung Cancer Mutation Consortium: About Mutation Testing - MedlinePlus Encyclopedia: Lung Cancer--Non-Small Cell - MedlinePlus Encyclopedia: Lung Cancer--Small Cell - National Cancer Institute: Drugs Approved for Lung Cancer - National Cancer Institute: Non-Small Cell Lung Cancer Treatment - National Cancer Institute: Small Cell Lung Cancer Treatment These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30188 +Does erythropoietin prevent ischemia-reperfusion from inducing oxidative damage in fetal rat brain?,Recombinant human erythropoietin has been shown to have neuroprotective effect in intrauterine ischemia-reperfusion-induced fetal brain damage in rats.,30189 +What is (are) facioscapulohumeral muscular dystrophy ?,"Facioscapulohumeral muscular dystrophy is a disorder characterized by muscle weakness and wasting (atrophy). This condition gets its name from the muscles that are affected most often: those of the face (facio-), around the shoulder blades (scapulo-), and in the upper arms (humeral). The signs and symptoms of facioscapulohumeral muscular dystrophy usually appear in adolescence. However, the onset and severity of the condition varies widely. Milder cases may not become noticeable until later in life, whereas rare severe cases become apparent in infancy or early childhood. Weakness involving the facial muscles or shoulders is usually the first symptom of this condition. Facial muscle weakness often makes it difficult to drink from a straw, whistle, or turn up the corners of the mouth when smiling. Weakness in muscles around the eyes can prevent the eyes from closing fully while a person is asleep, which can lead to dry eyes and other eye problems. For reasons that are unclear, weakness may be more severe in one side of the face than the other. Weak shoulder muscles tend to make the shoulder blades (scapulae) protrude from the back, a common sign known as scapular winging. Weakness in muscles of the shoulders and upper arms can make it difficult to raise the arms over the head or throw a ball. The muscle weakness associated with facioscapulohumeral muscular dystrophy worsens slowly over decades and may spread to other parts of the body. Weakness in muscles of the lower legs can lead to a condition called foot drop, which affects walking and increases the risk of falls. Muscular weakness in the hips and pelvis can make it difficult to climb stairs or walk long distances. Additionally, affected individuals may have an exaggerated curvature of the lower back (lordosis) due to weak abdominal muscles. About 20 percent of affected individuals eventually require the use of a wheelchair. Additional signs and symptoms of facioscapulohumeral muscular dystrophy can include mild high-tone hearing loss and abnormalities involving the light-sensitive tissue at the back of the eye (the retina). These signs are often not noticeable and may be discovered only during medical testing. Rarely, facioscapulohumeral muscular dystrophy affects the heart (cardiac) muscle or muscles needed for breathing. Researchers have described two types of facioscapulohumeral muscular dystrophy: type 1 (FSHD1) and type 2 (FSHD2). The two types have the same signs and symptoms and are distinguished by their genetic cause.",30190 +Does microRNA signature characterize primary tumors that metastasize in an esophageal adenocarcinoma rat model?,In vivo metastasis was confirmed in the modified Levrat's model. Analysis of the primary tumor identified a distinctive miRNA signature for primary tumors that metastasized.,30191 +What are the treatments for MYH9-related disorder ?,These resources address the diagnosis or management of MYH9-related disorder: - Gene Review: Gene Review: MYH9-Related Disorders - Genetic Testing Registry: Epstein syndrome - Genetic Testing Registry: Fechtner syndrome - Genetic Testing Registry: Macrothrombocytopenia and progressive sensorineural deafness - Genetic Testing Registry: May-Hegglin anomaly - Genetic Testing Registry: Sebastian syndrome - MedlinePlus Encyclopedia: Glomerulonephritis - MedlinePlus Encyclopedia: Thrombocytopenia These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30192 +Does guideline-based peer-to-peer consultation optimize pegfilgrastim use with no adverse clinical consequences?,"Active expert peer-to-peer consultation with prescribing oncologists can promote adherence to guidelines and potentially lead to significant cost reductions without significant risk of neutropenic fever, with or without hospitalization, for patients with cancer.",30193 +What are the genetic changes related to Freeman-Sheldon syndrome ?,"Freeman-Sheldon syndrome may be caused by mutations in the MYH3 gene. The MYH3 gene provides instructions for making a protein called embryonic skeletal muscle myosin heavy chain 3. This protein belongs to a group of proteins called myosins, which are involved in cell movement and transport of materials within and between cells. Myosin and another protein called actin are the primary components of muscle fibers and are important for the tensing of muscles (muscle contraction). Embryonic skeletal muscle myosin heavy chain 3 forms part of a myosin protein complex that is active before birth and is important for normal development of the muscles. MYH3 gene mutations that cause Freeman-Sheldon syndrome likely disrupt the function of the embryonic skeletal muscle myosin heavy chain 3 protein, reducing the ability of fetal muscle cells to contract. This impairment of muscle contraction may interfere with muscle development in the fetus, resulting in the contractures and other muscle and skeletal abnormalities associated with Freeman-Sheldon syndrome. It is unclear how MYH3 gene mutations may cause other features of this disorder. Some people with Freeman-Sheldon syndrome do not have mutations in the MYH3 gene. In these individuals, the cause of the disorder is unknown.",30194 +Do multiple histone modifications in euchromatin promote heterochromatin formation by redundant mechanisms in Saccharomyces cerevisiae?,"Our genetic dissection of Dot1's role in silencing in budding yeast showed that heterochromatin formation is modulated by multiple euchromatic histone modifiers that act by non-overlapping mechanisms. We discuss how euchromatic histone modifiers can make negative as well as positive contributions to gene silencing by competing with heterochromatin proteins within heterochromatin, within euchromatin, and at the boundary between euchromatin and heterochromatin.",30195 +Does very low-density lipoprotein stimulate the expression of monocyte chemoattractant protein-1 in mesangial cells?,"Our results demonstrate that elevated levels of VLDL, through the action of MCP-1, may contribute to the infiltration of monocytes into the mesangium and subsequent foam cell formation. Hence, VLDLs may play a role in the pathogenesis of focal glomerulosclerosis. One of the mechanisms of such effect may be mediated through the calcium-dependent protein kinase C pathway.",30196 +Does prostaglandin I2 promote recruitment of endothelial progenitor cells and limits vascular remodeling?,These findings clearly indicate that the prostaglandin I(2)-IP system is essential for EPCs to accomplish their function and plays a critical role in the regulation of vascular remodeling.,30197 +Do integrated transcriptomics and metabolomics decipher differences in the resistance of pedunculate oak to the herbivore Tortrix viridana L?,We conclude that the resistant oak type seem to prefer a strategy of constitutive defence responses in contrast to more induced defence responses of the susceptible oaks triggered by feeding. These results pave the way for the development of biomarkers for an early determination of potentially green oak leaf roller-resistant genotypes in natural pedunculate oak populations in Europe.,30198 +What is (are) Heat Illness ?,"Your body normally cools itself by sweating. During hot weather, especially with high humidity, sweating just isn't enough. Your body temperature can rise to dangerous levels and you can develop a heat illness. Most heat illnesses occur from staying out in the heat too long. Exercising too much for your age and physical condition are also factors. Older adults, young children and those who are sick or overweight are most at risk. Drinking fluids to prevent dehydration, replenishing salt and minerals, and limiting time in the heat can help. Heat-related illnesses include - Heatstroke - a life-threatening illness in which body temperature may rise above 106 F in minutes; symptoms include dry skin, rapid, strong pulse and dizziness - Heat exhaustion - an illness that can precede heatstroke; symptoms include heavy sweating, rapid breathing and a fast, weak pulse - Heat cramps - muscle pains or spasms that happen during heavy exercise - Heat rash - skin irritation from excessive sweating Centers for Disease Control and Prevention",30199 +What is (are) Esophagus Disorders ?,"The esophagus is the tube that carries food, liquids and saliva from your mouth to the stomach. You may not be aware of your esophagus until you swallow something too large, too hot or too cold. You may also become aware of it when something is wrong. The most common problem with the esophagus is gastroesophageal reflux disease (GERD). It happens when a band of muscle at the end of your esophagus does not close properly. This allows stomach contents to leak back, or reflux, into the esophagus and irritate it. Over time, GERD can cause damage to the esophagus. Other problems include heartburn and cancer. Treatment depends on the problem. Some get better with over-the-counter medicines or changes in diet. Others may need prescription medicines or surgery.",30200 +Does rheumatoid Factor be Associated With the Distribution of Hand Joint Destruction in Rheumatoid Arthritis?,Positivity for and levels of RF are associated with finger joint destruction independent of non-finger joint destruction and other covariates. Our findings suggest that there are different mechanisms of joint destruction operating in the finger joints of patients with RA.,30201 +What are the symptoms of Cataract congenital Volkmann type ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Cataract congenital Volkmann type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nuclear cataract 41/41 Autosomal dominant inheritance - Congenital cataract - Progressive visual loss - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30202 +What are the symptoms of Ollier disease ?,"Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated with pathologic fractures. Enchondromas frequently affect the long tubular bones, particularly the tibia, the femur, and/or the fibula; flat bones, especially the pelvis, can also be affected. The lesions may affect multiple bones and are usually asymetrically distributed, exclusively or predominantly affecting one side of the body. Affected bones are often shortened and deformed. Indeed, bone shortening may be the only clinical sign of the disease. These bone shortenings are often associated with bone bending and curving, and may lead to limitations in articular movement. Forearm deformities are frequently encountered. In childhood, the lesions are subjected to pathologic fractures. The Human Phenotype Ontology provides the following list of signs and symptoms for Ollier disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metaphyses 90% Cavernous hemangioma 90% Micromelia 90% Osteolysis 90% Visceral angiomatosis 90% Bone pain 50% Limitation of joint mobility 50% Abnormality of coagulation 7.5% Anemia 7.5% Lymphangioma 7.5% Ovarian neoplasm 7.5% Platyspondyly 7.5% Precocious puberty 7.5% Skin ulcer 7.5% Thrombophlebitis 7.5% Chondrosarcoma - Multiple enchondromatosis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30203 +What is (are) Phobias ?,"A phobia is a type of anxiety disorder. It is a strong, irrational fear of something that poses little or no real danger. There are many specific phobias. Acrophobia is a fear of heights. Agoraphobia is a fear of public places, and claustrophobia is a fear of closed-in places. If you become anxious and extremely self-conscious in everyday social situations, you could have a social phobia. Other common phobias involve tunnels, highway driving, water, flying, animals and blood. People with phobias try to avoid what they are afraid of. If they cannot, they may experience - Panic and fear - Rapid heartbeat - Shortness of breath - Trembling - A strong desire to get away Phobias usually start in children or teens, and continue into adulthood. The causes of specific phobias are not known, but they sometimes run in families. Treatment helps most people with phobias. Options include medicines, therapy or both. NIH: National Institute of Mental Health",30204 +How many people are affected by bladder cancer ?,"In the United States, bladder cancer is the fourth most common type of cancer in men and the ninth most common cancer in women. About 45,000 men and 17,000 women are diagnosed with bladder cancer each year.",30205 +"Is the scavenger receptor class B , type I a primary determinant of paraoxonase-1 association with high-density lipoproteins?","The present study identifies SR-BI as a major determinant of the capacity of HDL to acquire PON1. It reinforces the concept of the receptor as a docking molecule, allowing communication between HDL and the cell, and extends the importance of SR-BI to HDL metabolism and function.",30206 +What is (are) Trismus-pseudocamptodactyly syndrome ?,"Trismus-pseudocamptodactyly syndrome is a disorder of muscle development and function. It is characterized by short muscles and tendons resulting in limited range of motion of the hands, legs, and mouth. Both sporadic occurrence and autosomal dominant inheritance have been reported in the medical literature. The most serious complications of the condition occur as a result of the limited mobility of the mouth. Treatment may involve surgical correction and physical therapy.",30207 +What are the treatments for Reticulohistiocytoma ?,"Reticulohistiocytoma (RH) typically resolve spontaneously over a period of months to years; however, surgical excision usually results in a cure.",30208 +What are the treatments for Diabetic Kidney Disease ?,"People with diabetes should work with their health care team to prevent or manage CKD through the following steps: + +- measure A1C levelsa blood test that provides information about a persons average blood glucose levels for the previous 3 months at least twice a year and keep A1C levels below 7 percent - learn about insulin injections, diabetes medications, meal planning, physical activity, and blood glucose monitoring - find out whether protein, salt, or liquid should be limited in the diet - see a registered dietitian to help with meal planning - check blood pressure every visit with a health care provider or at least two to four times a year - learn about possible benefits from taking an ACE inhibitor or an ARB if a person has high blood pressure - measure eGFR at least once a year to check kidney function - get the amount of protein in the urine tested at least once a year to check for kidney damage",30209 +What are the genetic changes related to Perrault syndrome ?,"Perrault syndrome has several genetic causes. C10orf2, CLPP, HARS2, LARS2, or HSD17B4 gene mutations have been found in a small number of affected individuals. The proteins produced from several of these genes, including C10orf2, CLPP, HARS2, and LARS2, function in cell structures called mitochondria, which convert the energy from food into a form that cells can use. Although the effect of these gene mutations on mitochondrial function is unknown, researchers speculate that disruption of mitochondrial energy production could underlie the signs and symptoms of Perrault syndrome. The protein produced from the HSD17B4 gene is active in cell structures called peroxisomes, which contain a variety of enzymes that break down many different substances in cells. It is not known how mutations in this gene affect peroxisome function or lead to hearing loss in affected males and females and ovarian abnormalities in females with Perrault syndrome. It is likely that other genes that have not been identified are also involved in this condition.",30210 +Does long QT 1 mutation KCNQ1A344V increase local anesthetic sensitivity of the slowly activating delayed rectifier potassium current?,The results indicate that certain forms of the LQTS may constitute a specific pharmacogenetic risk factor for regional anesthesia.,30211 +Is ethanol plus the Jo2 Fas agonistic antibody-induced liver injury attenuated in mice with partial ablation of argininosuccinate synthase?,Decreased nitrosative stress causes lower EtOH plus Jo2-induced liver injury in Ass(+/-) mice.,30212 +What are the treatments for adult polyglucosan body disease ?,"These resources address the diagnosis or management of adult polyglucosan body disease: - Gene Review: Gene Review: Adult Polyglucosan Body Disease - Genetic Testing Registry: Polyglucosan body disease, adult - MedlinePlus Encyclopedia: Neurogenic Bladder - MedlinePlus Encyclopedia: Spasticity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",30213 +What are the symptoms of LEOPARD syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for LEOPARD syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the pulmonary artery 90% Abnormality of the pulmonary valve 90% Arrhythmia 90% Freckling 90% Hyperextensible skin 90% Hypertelorism 90% Intrauterine growth retardation 90% Melanocytic nevus 90% Myelodysplasia 90% Sensorineural hearing impairment 90% Abnormality of the mitral valve 50% Abnormality of the nose 50% Complete atrioventricular canal defect 50% Cryptorchidism 50% Decreased fertility 50% Hypertrophic cardiomyopathy 50% Low-set, posteriorly rotated ears 50% Pectus carinatum 50% Pectus excavatum 50% Ptosis 50% Sprengel anomaly 50% Webbed neck 50% Abnormal localization of kidney 7.5% Abnormality of calvarial morphology 7.5% Abnormality of the endocardium 7.5% Abnormality of the voice 7.5% Aneurysm 7.5% Aplasia/Hypoplasia of the abdominal wall musculature 7.5% Cognitive impairment 7.5% Coronary artery disease 7.5% Displacement of the external urethral meatus 7.5% Leukemia 7.5% Melanoma 7.5% Neuroblastoma 7.5% Scoliosis 7.5% Short stature 7.5% Spina bifida occulta 7.5% Triangular face 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30214 +Who is at risk for Alkhurma Hemorrhagic Fever (AHF)? ?,"Transmission of AHFV is not well understood. AHFV is a zoonotic virus, and its described tick hosts (the soft tick Ornithodoros savignyi and the hard tick Hyalomma dromedari) are widely distributed. People can become infected through a tick bite or when crushing infected ticks. Epidemiologic studies indicate that contact with domestic animals or livestock may increase the risk of human infection. No human-to-human transmission of AHF has been documented. + +Although livestock animals may provide blood meals for ticks, it is thought that they play a minor role in transmitting AHFV to humans. No transmission through non-pasteurized milk has been described, although other tick-borne flaviviruses have been transmitted to humans through this route.",30215 +Does prolonged allergen challenge in mice lead to persistent airway remodelling?,"In conclusion, we have demonstrated that prolonged allergen challenge results in persistent airway wall remodelling.",30216 +What is (are) Syncope ?,"Syncope is a medical term used to describe a temporary loss of consciousness due to the sudden decline of blood flow to the brain. Syncope is commonly called fainting or passing out. If an individual is about to faint, he or she will feel dizzy, lightheaded, or nauseous and their field of vision may white out or black out. The skin may be cold and clammy. The person drops to the floor as he or she loses consciousness. After fainting, an individual may be unconscious for a minute or two, but will revive and slowly return to normal. Syncope can occur in otherwise healthy people and affects all age groups, but occurs more often in the elderly. + +Vasovagal + +Carotid sinus + +Situational",30217 +Does corn oil enhancing hepatic lipid peroxidation induced by CCl4 aggravate liver fibrosis in rats?,corn oil enriches polyunsaturated fatty acids through COX-2 independent pathways to increase LPO products that do not enhance liver fibrosis induced by CCl4.,30218 +Are lipoprotein remnants and dense LDL associated with features of unstable carotid plaque : a flag for non-HDL-C?,"We provide evidence that lipoprotein subclasses, specifically cholesterol in the dense LDL fractions and in the triglyceride-rich lipoprotein remnants, significantly affect carotid plaque cellular composition, in particular macrophages content.",30219 +Are motivational interviewing skills positively associated with nutritionist self-efficacy?,"Development of MI skills and strategies to improve social and physical self-concept may increase WIC nutritionists' counseling self-efficacy, particularly when counseling clients from diverse backgrounds.",30220 +What is (are) Giant axonal neuropathy ?,"Giant axonal neuropathy (GAN) is a neurodegenerative disorder characterized by abnormally large and dysfunctional axons (the specialized extensions of nerve cells that are required for the transmission of nerve impulses). The condition typically appears in infancy or early childhood with severe peripheral motor and sensory neuropathy (affecting movement and sensation in the arms and legs). Early signs include difficulty walking, lack of coordination, and loss of strength. Over time, the central nervous system (brain and spinal cord) becomes involved, causing a gradual decline in mental function, loss of control of body movements, and seizures. Giant axonal neuropathy is caused by mutations in the GAN gene. It follows and autosomal dominant pattern of inheritance. Management is directed by a multidisciplinary team with the goal of optimizing intellectual and physical development.",30221 +Does aldosterone augment adrenomedullin production without stimulating pro-adrenomedullin N-terminal 20 peptide secretion in vascular smooth muscle cells?,"AM production was stimulated by aldosterone in cultured human VSMC without an increase in PAMP secretion, suggesting a possible role of AM in modulating vascular remodeling by aldosterone.",30222 +Do euonymus alatus extract attenuates LPS-induced NF-κB activation via IKKβ inhibition in RAW 264.7 cells?,These results suggest that EEA abrogates LPS-induced NF-κB signaling pathway by targeting the IKKβ in RAW 264.7 cells and these properties may provide a molecular basis for understanding the inhibitory effects of EEA on LPS-mediated inflammation.,30223 +What are the symptoms of Dermatitis herpetiformis ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatitis herpetiformis . If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Autoimmunity 90% Hypermelanotic macule 90% Malabsorption 90% Microcytic anemia 90% Pruritus 90% Recurrent fractures 90% Urticaria 90% Eczema 50% Bone pain 7.5% Edema 7.5% Lichenification 7.5% Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30224 +Do immunodeficient mouse strains display marked variability in growth of human melanoma lung metastases?,Murine NKG2D recognition of MICA/B is an important receptor-ligand interaction used by NK cells in immunodeficient strains to limit engraftment of human tumors. The absolute NK deficiency in NOD-scid IL2Rgamma(null) animals makes this strain an excellent recipient of melanoma and potentially other human malignancies.,30225 +Who is at risk for Patent Ductus Arteriosus? ?,"Patent ductus arteriosus (PDA) is a relatively common congenital heart defect in the United States. + +The condition occurs more often in premature infants (on average, occurring in about 8 of every 1,000 births). However, PDA also occurs in full-term infants (on average, occurring in about 2 of every 1,000 births). + +PDA also is more common in: + +Infants who have genetic conditions such as Down syndrome + +Infants whose mothers had German measles (rubella) during pregnancy + +PDA is twice as common in girls as it is in boys.",30226 +Are mutations in the ELANE gene associated with development of periodontitis in patients with severe congenital neutropenia?,"This study demonstrates an association between ELANE mutations in SCN and the development of periodontitis with skewed subgingival microbiota, indicating a potential role of ELANE mutations in the pathogenesis of periodontitis.",30227 +Does deoxyspergualin prophylaxis with tacrolimus further improve long-term graft survival in living-related renal-transplant recipients transfused with donor-specific blood?,DSG prophylaxis with Tac-based immunosuppression further improves long-term graft survival among living-related renal-transplant recipients treated with DST by decreasing the severity of acute rejection episodes.,30228 +Do effects of the antioxidants lycium barbarum and ascorbic acid on reperfusion liver injury in rats?,"This I/R protocol resulted in oxidative and nitrosative stress and liver injury. Ascorbic acid showed significant protective effects on reperfusion liver injury by attenuating hydroxyl radical and NO release. In contrast, LB aggravated liver injury by increasing hydroxyl radical release.",30229 +What are the treatments for Tarsal tunnel syndrome ?,"While we do not provide medical advice, the following have been reported as treatment options for tarsal tunnel syndrome. Individuals should discuss the various treatment options with their personal healthcare provider. Rest and ice Oral pain medications Steroid injections Local anesthetics Physical therapy Immobilization Orthotic devices Decompression surgery",30230 +Does mUC4 impair the anti-inflammatory effects of corticosteroids in patients with chronic rhinosinusitis with nasal polyps?,"MUC4β participates in the corticosteroid resistance process, inhibiting normal GRα nuclear function. The high expression of MUC4 in patients with CRSwNP might participate in corticosteroid resistance.",30231 +Does mNanog possess dorsal mesoderm-inducing ability by modulating both BMP and Activin/nodal signaling in Xenopus ectodermal cells?,These results suggested that mNanog expression induces dorsal mesoderm by regulating both Activin/nodal signaling and BMP signaling in Xenopus. This finding highlights the possibly novel function for mNanog in stimulating the endogenous gene network in Xenopus mesoderm formation.,30232 +What is (are) epidermal nevus ?,"An epidermal nevus (plural: nevi) is an abnormal, noncancerous (benign) patch of skin caused by an overgrowth of skin cells. Epidermal nevi are typically seen at birth or develop in early childhood. They can be flat, tan patches of skin or raised, velvety patches. As the affected individual ages, the nevus can become thicker and darker and develop a wart-like (verrucous) appearance. Often, epidermal nevi follow a pattern on the skin known as the lines of Blaschko. The lines of Blaschko, which are invisible on skin, are thought to follow the paths along which cells migrate as the skin develops before birth. There are several types of epidermal nevi that are defined in part by the type of skin cell involved. The epidermis is the outermost layer of skin and is composed primarily of a specific cell type called a keratinocyte. One group of epidermal nevi, called keratinocytic or nonorganoid epidermal nevi, includes nevi that involve only keratinocytes. Other types of epidermal nevi involve additional types of epidermal cells, such as the cells that make up the hair follicles or the sebaceous glands (glands in the skin that produce a substance that protects the skin and hair). These nevi comprise a group called organoid epidermal nevi. Some affected individuals have only an epidermal nevus and no other abnormalities. However, sometimes people with an epidermal nevus also have problems in other body systems, such as the brain, eyes, or bones. In these cases, the affected individual has a condition called an epidermal nevus syndrome. There are several different epidermal nevus syndromes characterized by the type of epidermal nevus involved.",30233 +What is (are) sepiapterin reductase deficiency ?,"Sepiapterin reductase deficiency is a condition characterized by movement problems, most often a pattern of involuntary, sustained muscle contractions known as dystonia. Other movement problems can include muscle stiffness (spasticity), tremors, problems with coordination and balance (ataxia), and involuntary jerking movements (chorea). People with sepiapterin reductase deficiency can experience episodes called oculogyric crises. These episodes involve abnormal rotation of the eyeballs; extreme irritability and agitation; and pain, muscle spasms, and uncontrolled movements, especially of the head and neck. Movement abnormalities are often worse late in the day. Most affected individuals have delayed development of motor skills such as sitting and crawling, and they typically are not able to walk unassisted. The problems with movement tend to worsen over time. People with sepiapterin reductase deficiency may have additional signs and symptoms including an unusually small head size (microcephaly), intellectual disability, seizures, excessive sleeping, and mood swings.",30234 +What is (are) Emergency Medical Services ?,"If you get very sick or badly hurt and need help right away, you should use emergency medical services. These services use specially trained people and specially equipped facilities. You may need care in the hospital emergency room (ER). Doctors and nurses there treat emergencies, such as heart attacks and injuries. For some emergencies, you need help where you are. Emergency medical technicians, or EMTs, do specific rescue jobs. They answer emergency calls and give basic medical care. Some EMTs are paramedics - they have training to do medical procedures on site. They usually take you to the ER for more care. If you or someone you know needs emergency care, go to your hospital's emergency room. If you think the problem is life threatening, call 9-1-1.",30235 +Is revascularization and tissue regeneration of an empty root canal space enhanced by a direct blood supply and stem cells?,Successful revascularization and tissue regeneration in this model demonstrate the importance of a direct vascular supply and the advantages of a stem cell approach.,30236 +What is (are) Langer-Giedion syndrome ?,"Langer-Giedion syndrome is a condition that causes bone abnormalities and distinctive facial features. People with this condition have multiple noncancerous (benign) bone tumors called osteochondromas. Multiple osteochondromas may result in pain, limited range of joint movement, and pressure on nerves, blood vessels, the spinal cord, and tissues surrounding the osteochondromas. Affected individuals also have short stature and cone-shaped ends of the long bones (epiphyses). The characteristic appearance of individuals with Langer-Giedion syndrome includes sparse scalp hair, a rounded nose, a long flat area between the nose and the upper lip (philtrum), and a thin upper lip. Some people with this condition have loose skin in childhood, which typically resolves with age. Affected individuals may have some intellectual disability.",30237 +Do silicon-carbide coated coronary stents have low platelet and leukocyte adhesion during platelet activation?,Data from this in vitro circulation study show a significantly lower platelet and leukocyte adhesion at the surface of the SiC-coated tantalum stent than at the surface of stainless-steel stents or uncoated and heparin-coated tantalum stents.,30238 +Does neuronal nitric oxide signaling regulate erection recovery after cavernous nerve injury?,"Neuronal nitric oxide signaling regulates erectile function recovery early after partial cavernous nerve injury, exerting an inhibitory role via the induction of apoptotic change in penile tissue. Therapeutic strategies to improve erectile function recovery after radical prostatectomy may consider targeting pathogenic sites of nitric oxide neurobiology.",30239 +What causes Disseminated peritoneal leiomyomatosis ?,"The cause of disseminated peritoneal leiomyomatosis (DPL) is unknown, but medical researchers believe it is influenced by both hormonal and genetic factors. Not all cases are related to hormone levels, as some cases have occurred in men and in post-menopausal women not receiving hormone replacement therapy. DPL is often associated with uterine leiomyomas but the connection is unclear. Most cases occur sporadically in people with no family history of the condition; however, more than one family member can be affected. Although this suggests that genetic factors may play a role in the development of DPL in some families, researchers have not identified any specific gene changes known to cause the condition.The cause of the condition is considered multifactorial .",30240 +How to diagnose Congenital sucrase-isomaltase deficiency ?,"CSID can be diagnosed through clinical evaluation, detailed patient history, and tolerance lab tests. Blood tests can be done to look for a flat serum glucose curve after patients are given a dose of sucrose. In addition, blood and urine samples may test positive for sucrose, maltose, or palatinose (a form of maltose) if used during tolerance testing. The feces may also show sucrose, glucose, and fructose, and an acid pH level of below 5.0 or 6.0. CSID can be confirmed by taking a small sample of tissue (biopsy) from the small intestine and measuring the activity of the enzyme called sucrase-isomaltase. Other tests may include a sucrose hydrogen breath test in which an abnormally high level of hydrogen will be detected in the breath of an affected individual after sucrose ingestion.",30241 +Do ophthalmodynamometric pressure in eyes with proliferative diabetic retinopathy measured during pars plana vitrectomy?,We measured ODP using VGFI during vitrectomy in patients with PDR. The ODP was significantly associated with DBP. The ODP was lower in patients with rubeosis iridis and severe PDR.,30242 +Does cPAP therapy for patients with sleep apnea and type 2 diabetes mellitus improve control of blood pressure?,"In patients with type 2 DM and moderate to severe OSA, 3 months of CPAP therapy did not decrease HbA1c but lowered systolic and diastolic blood pressures. In view of a potentially limited effect size of CPAP treatment on glycemic control, sample size estimation for future randomized controlled studies must make adequate allowance for influence from external factors of medications/diet and CPAP use.",30243 +What are the genetic changes related to inclusion body myopathy 2 ?,"Mutations in the GNE gene cause inclusion body myopathy 2. The GNE gene provides instructions for making an enzyme found in cells and tissues throughout the body. This enzyme is involved in a chemical pathway that produces sialic acid, which is a simple sugar that attaches to the ends of more complex molecules on the surface of cells. By modifying these molecules, sialic acid influences a wide variety of cellular functions including cell movement (migration), attaching cells to one another (adhesion), signaling between cells, and inflammation. The mutations responsible for inclusion body myopathy 2 reduce the activity of the enzyme produced from the GNE gene, which decreases the production of sialic acid. As a result, less of this simple sugar is available to attach to cell surface molecules. Researchers are working to determine how a shortage of sialic acid leads to progressive muscle weakness in people with inclusion body myopathy 2. Sialic acid is important for the normal function of many different cells and tissues, so it is unclear why the signs and symptoms of this disorder appear to be limited to the skeletal muscles.",30244 +Does apolipoprotein E modify neurological outcome by affecting cerebral edema but not hematoma size after intracerebral hemorrhage in humans?,The presence of APOE4 is associated with poor functional outcomes in humans after intracerebral hemorrhage. Our data suggest that the mechanism for this may be increased cerebral edema and not larger hematoma volume.,30245 +Do [ Compound nutrients promote liver rehabilitation and regeneration in rats with CCl4 ; -induced liver cirrhosis ]?,"Compound nutrients can be good for liver rehabilitation and regeneration in CCl4;-induced cirrhotic rat model, and the liver regeneration may relate to high BCAA level in blood plasma.",30246 +Does positivity of cytomegalovirus antibodies predict a better clinical and radiological outcome in multiple sclerosis patients?,"Surprisingly, our results focused attention on the 'protective' role of a particular virus. CMV is probably capable of triggering some immunomodulating/immune evasion mechanisms which may decrease immune reactivity in MS patients. Further studies are needed to confirm and elucidate our study results on a larger sample of MS patients and in animal model studies.",30247 +Does glucagon-like peptide-1 reduce the pulsatile component of testosterone secretion in healthy males?,Oral glucose ingestion and intravenous GLP-1 infusion reduce the pulsatile component of testosterone secretion by a mechanism independent of LH release.,30248 +Is alpha-methylacyl-CoA racemase deficiency inherited ?,"This condition is inherited in an autosomal recessive pattern, 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.",30249 +Is Marinesco-Sjgren syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, 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.",30250 +What are the symptoms of Epidermolytic ichthyosis ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolytic ichthyosis. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Ichthyosis 90% Weight loss 90% Melanocytic nevus 50% Conjunctival hamartoma 7.5% Palmoplantar keratoderma 7.5% Skin ulcer 7.5% Autosomal dominant inheritance - Erythroderma - Palmoplantar hyperkeratosis - Scaling skin - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30251 +Does reference range for cystographic bladder capacity in children-with special attention to vesicoureteral reflux?,"With or without vesicoureteral reflux values for cystometric/cystographic bladder capacity range widely in children, and correlate logarithmically with age. For clinical decisions the full reference range for age, flanked by the 5th and 95th percentiles, should be used to assess individual values for cystometric/cystographic bladder capacity, rather than linear functions.",30252 +What is (are) Leukemia ?,"Biological therapy is a treatment that uses a person's own immune system to fight leukemia. This therapy uses special substances to stimulate the immune system's ability to fight cancer. Some patients with chronic lymphocytic leukemia receive monoclonal antibodies, which are man-made proteins that can identify leukemia cells and help the body kill them.",30253 +Do human mesenchymal stromal cells decrease mortality after intestinal ischemia and reperfusion injury?,"Human BMSCs produce multiple beneficial growth factors. Direct application of hBMSCs to the peritoneal cavity after intestinal I/R decreased mortality by 60%. Improved outcomes with hBMSC therapy were not associated with improved histologic profiles in this model. hBMSC therapy was associated with higher VEGF in intestines and lower levels of proinflammtory MIG, IP-10, and G-CSF in liver tissue after ischemia, suggesting that reperfusion with hBMSC therapy may alter survival by modulating the systemic inflammatory response to ischemia.",30254 +What is (are) Cronkhite-Canada disease ?,"Cronkhite-Canada syndrome is a rare gastrointestinal disorder characterized by widespread colon polyps, unhealthy looking (dystrophic) nails, hair loss (alopecia), darkening skin (such as on the hands, arms, neck and face), diarrhea, weight loss, stomach pain, and/or excess fluid accumulation in arms and legs (peripheral edema). The cause of the condition is not known. Treatment aims to control symptoms and provide adequate nutrition.",30255 +Are polymorphisms in the gene encoding bovine interleukin-10 receptor alpha associated with Mycobacterium avium ssp . paratuberculosis infection status?,SNPs in IL10RA are associated with MAP infection status in dairy cattle. The functional significance of these SNPs warrants further investigation.,30256 +Is plasma cholecystokinin associated with subjective measures of satiety in women?,"In women, the feeling of satiety caused by cholecystokinin release is enhanced by increasing either the fiber or fat content of a low-fat, low-fiber meal.",30257 +Does qiwei granules alleviate podocyte lesion in kidney of diabetic KK-Ay mice?,These finding suggest that Qiwei granules protects the podocyte from the development of DN via improving slit diaphragm (SD) molecules expression and likely activating Akt signaling pathway in KK-A(y) mice.,30258 +Is increased apical rotation in severe aortic stenosis associated with reduced survival : a speckle-tracking study?,Increased ApRot is independently associated with poor survival and may represent a compensatory mechanism to preserve cardiac output against severe obstruction to flow and high systolic load.,30259 +What causes Isovaleric acidemia ?,"Isovaleric acidemia is caused by mutations in the IVD gene. The IVD gene provides instructions for making an enzyme that plays an essential role in breaking down proteins from the diet. Specifically, this enzyme helps process the amino acid leucine, which is part of many proteins. If a mutation in the IVD gene reduces or eliminates the activity of this enzyme, the body is unable to break down leucine properly. As a result, an organic acid called isovaleric acid and related compounds build up to harmful levels in the body. This buildup damages the brain and nervous system, causing serious health problems.",30260 +Does intraglandular injection of botulinum toxin a reduce tear production in rabbits?,"In rabbits, intraglandular injection of BTX-A resulted in decreased tear production at 1 week. No additional reduction in tear production was seen with a BTX-A dose greater than 1.25 U, suggesting glandular receptor saturation at this dose. Despite suppression of tear production, no corneal pathologic factors were observed. Further studies are needed to refine this animal model with the ultimate goal of determining optimum delivery route and concentration to reduction in tear production while minimizing side effects in patients.",30261 +Does jNK regulate MCP-1 expression in adenovirus type 19-infected human corneal fibroblasts?,"The MKK7/JNK/c-Jun cascade is rapidly activated and mediates MCP-1 expression in Ad19-infected HCFs. Furthermore, the activation of c-Src on Ad19 infection appears to regulate both the ERK and the JNK pathways.",30262 +Is inclusion body myopathy 2 inherited ?,"This condition is inherited in an autosomal recessive pattern, 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.",30263 +Is nonanesthesiologist-administered propofol sedation for colonoscopy safe and effective : a prospective Spanish study over 1000 consecutive exams?,"Colonoscopy under endoscopist-controlled propofol sedation in low-risk patients is safe and effective, allowing for a complete exploration, although patients at least 65 years old and/or classified as ASA II are more likely to present a decrease in blood pressure and have a prolonged recovery time.",30264 +What are the symptoms of Thrombocytopenia ?,"Mild to serious bleeding causes the main signs and symptoms of thrombocytopenia. Bleeding can occur inside your body (internal bleeding) or underneath your skin or from the surface of your skin (external bleeding). + +Signs and symptoms can appear suddenly or over time. Mild thrombocytopenia often has no signs or symptoms. Many times, it's found during a routine blood test. + +Check with your doctor if you have any signs of bleeding. Severe thrombocytopenia can cause bleeding in almost any part of the body. Bleeding can lead to a medical emergency and should be treated right away. + +External bleeding usually is the first sign of a low platelet count. External bleeding may cause purpura (PURR-purr-ah) or petechiae (peh-TEE-key-ay). Purpura are purple, brown, and red bruises. This bruising may happen easily and often. Petechiae are small red or purple dots on your skin. + +Purpura and Petechiae + + + +Other signs of external bleeding include: + +Prolonged bleeding, even from minor cuts + +Bleeding or oozing from the mouth or nose, especially nosebleeds or bleeding from brushing your teeth + +Abnormal vaginal bleeding (especially heavy menstrual flow) + +A lot of bleeding after surgery or dental work also might suggest a bleeding problem. + +Heavy bleeding into the intestines or the brain (internal bleeding) is serious and can be fatal. Signs and symptoms include: + +Blood in the urine or stool or bleeding from the rectum. Blood in the stool can appear as red blood or as a dark, tarry color. (Taking iron supplements also can cause dark, tarry stools.) + +Headaches and other neurological symptoms. These problems are very rare, but you should discuss them with your doctor.",30265 +What is (are) Moyamoya Disease ?,"Moyamoya disease is a rare, progressive cerebrovascular disorder caused by blocked arteries at the base of the brain in an area called the basal ganglia. The name moyamoya means puff of smoke in Japanese and describes the look of the tangle of tiny vessels formed to compensate for the blockage. Moyamoya disease was first described in Japan in the 1960s and it has since been found in individuals in the other countries around the world; its incidence is higher in Asian countries than in Europe or North America. The disease primarily affects children, but it can also occur in adults. In children, the first symptom of Moyamoya disease is often stroke, or recurrent transient ischemic attacks (TIA, commonly referred to as mini-strokes), frequently accompanied by muscular weakness or paralysis affecting one side of the body, or seizures. Adults may also experience these symptoms that arise from blocked arteries, but more often experience a hemorrhagic stroke due to bleeding into the brain from the abnormal brain vessels. Individuals with this disorder may have disturbed consciousness, problems with speaking and understanding speech, sensory and cognitive impairments, involuntary movements, and vision problems.About one in 10 individuals with Moyamoya disease has a close relative who is also affected; in these cases researchers think that Moyamoya disease is the result of inherited genetic abnormalities.Studies that look for the abnormal gene(s) may help reveal the biomechanisms that cause the disorder.",30266 +What are the symptoms of Childhood Astrocytomas ?,"The signs and symptoms of astrocytomas are not the same in every child. Signs and symptoms depend on the following: - Where the tumor forms in the brain or spinal cord. - The size of the tumor. - How fast the tumor grows. - The child's age and development. Some tumors do not cause signs or symptoms. Signs and symptoms may be caused by childhood astrocytomas or by other conditions. Check with your child's doctor if your child has any of the following: - Morning headache or headache that goes away after vomiting. - Nausea and vomiting. - Vision, hearing, and speech problems. - Loss of balance and trouble walking. - Worsening handwriting or slow speech. - Weakness or change in feeling on one side of the body. - Unusual sleepiness. - More or less energy than usual. - Change in personality or behavior. - Seizures. - Weight loss or weight gain for no known reason. - Increase in the size of the head (in infants).",30267 +Does toll-like receptor 4 contribute to vascular remodelling and endothelial dysfunction in angiotensin II-induced hypertension?,"TLR4 up-regulation by AngII contributed to the inflammation, endothelial dysfunction, vascular remodelling and stiffness associated with hypertension by mechanisms involving oxidative stress. MyD88-dependent activation and JNK/NF-κB signalling pathways participated in these alterations.",30268 +Do glycerol and fatty acids in serum predict the development of hyperglycemia and type 2 diabetes in Finnish men?,"Our large population-based study shows that fasting serum levels of glycerol, FFAs, monounsaturated FAs, saturated FAs, and n-7 and -9 FAs are biomarkers for an increased risk of development of hyperglycemia and type 2 diabetes, whereas high levels of serum n-6 FAs, reflecting dietary intake of LA, were associated with reduced risk for hyperglycemia and type 2 diabetes.",30269 +What are the treatments for ZAP70-related severe combined immunodeficiency ?,"These resources address the diagnosis or management of ZAP70-related severe combined immunodeficiency: - Baby's First Test: Severe Combined Immunodeficiency - Gene Review: Gene Review: ZAP70-Related Severe Combined Immunodeficiency - Genetic Testing Registry: Severe combined immunodeficiency, atypical These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",30270 +Is Unverricht-Lundborg disease inherited ?,"This condition is inherited in an autosomal recessive pattern, 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.",30271 +Does effect of storage time on the accuracy of cast made from different irreversible hydrocolloids?,The dimensional stability of the alginate impressions is influenced by the selected material and the storage time.,30272 +What are the symptoms of Purpura simplex ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Purpura simplex. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bruising susceptibility - Epistaxis - Menorrhagia - Ptosis - Purpura - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30273 +"Are hypophosphatemia , hyperphosphaturia , and bisphosphonate treatment associated with survival beyond infancy in generalized arterial calcification of infancy?","ENPP1 coding region mutations are associated with generalized arterial calcification of infancy in approximately 75% of subjects. Except for the p.P305T mutation, which was universally lethal when present on both alleles, the identified ENPP1 mutations per se have no discernable effect on survival. However, survival seems to be associated with hypophosphatemia linked with hyperphosphaturia and also with bisphosphonate treatment.",30274 +Does necdin modulate proliferative cell survival of human cells in response to radiation-induced genotoxic stress?,This result suggests that Necdin potentially attenuate p53 signaling in response to genotoxic stress in human cells and supports similar results describing an inhibitory function of Necdin over p53-dependent growth arrest in mice.,30275 +Do a comparative genomics approach to identifying the plasticity transcriptome?,These observations may enable a more detailed understanding of the regulatory networks that are induced by neural activity and contribute to the plasticity transcriptome. The target genes identified in this study will be a valuable resource for investigators who hope to define the functions of specific genes that underlie activity-dependent changes in neuronal properties.,30276 +How to diagnose Hailey-Hailey disease ?,"Yes. ATP2C1 is the only gene known to be associated with Hailey-Hailey disease. Genetic testing is available to analyze the ATP2C1 gene for mutations.Genetic testing for at-risk relatives and prenatal testing are also possible if the disease-causing mutation in the family is known. How is Hailey-Hailey disease diagnosed? Diagnosis of Hailey-Hailey disease is usually made based on symptoms and family history. As it can be mistaken for other blistering skin conditions, a skin biopsy might be required. Genetic testing is available to confirm the diagnosis of Hailey-Hailey disease, but is not required.",30277 +What are the genetic changes related to hereditary diffuse gastric cancer ?,"It is likely that 30 to 40 percent of individuals with HDGC have a mutation in the CDH1 gene. The CDH1 gene provides instructions for making a protein called epithelial cadherin or E-cadherin. This protein is found within the membrane that surrounds epithelial cells, which are the cells that line the surfaces and cavities of the body. E-cadherin helps neighboring cells stick to one another (cell adhesion) to form organized tissues. E-cadherin has many other functions including acting as a tumor suppressor protein, which means it prevents cells from growing and dividing too rapidly or in an uncontrolled way. People with HDGC caused by CDH1 gene mutations are born with one mutated copy of the gene in each cell. These mutations cause the production of an abnormally short, nonfunctional version of E-cadherin or alter the protein's structure. For diffuse gastric cancer to develop, a second mutation involving the other copy of the CDH1 gene must occur in the cells of the stomach lining during a person's lifetime. People who are born with one mutated copy of the CDH1 gene have a 80 percent chance of acquiring a second mutation in the other copy of the gene and developing gastric cancer in their lifetimes. When both copies of the CDH1 gene are mutated in a particular cell, that cell cannot produce any functional E-cadherin. The loss of this protein prevents it from acting as a tumor suppressor, contributing to the uncontrollable growth and division of cells. A lack of E-cadherin also impairs cell adhesion, increasing the likelihood that cancer cells will not come together to form a tumor but will invade the stomach wall and metastasize as small clusters of cancer cells into nearby tissues. These CDH1 gene mutations also lead to a 40 to 50 percent chance of lobular breast cancer in women, a slightly increased risk of prostate cancer in men, and a slightly increased risk of colorectal cancer. It is unclear why CDH1 gene mutations primarily occur in the stomach lining and these other tissues. About 60 to 70 percent of individuals with HDGC do not have an identified mutation in the CDH1 gene. The cancer-causing mechanism in these individuals is unknown.",30278 +What is (are) Czech dysplasia ?,"Czech dysplasia is an inherited condition that affects joint function and bone development. People with this condition have joint pain (osteoarthritis) that begins in adolescence or early adulthood. The joint pain mainly affects the hips, knees, shoulders, and spine and may impair mobility. People with Czech dysplasia often have shortened bones in their third and fourth toes, which make their first two toes appear unusually long. Affected individuals may have flattened bones of the spine (platyspondyly) or an abnormal spinal curvature, such as a rounded upper back that also curves to the side (kyphoscoliosis). Some people with Czech dysplasia have progressive hearing loss.",30279 +How to diagnose Primary Familial Brain Calcification ?,"The diagnosis of PFBC relies upon: 1) visualization of bilateral (on both sides) calcification of the basal ganglia on neuroimaging, 2) presence of progressive neurological dysfunction, 3) absence of a metabolic, infectious, toxic, or traumatic cause, and 4) a family history consistent with autosomal dominant inheritance (a person must inherit one copy of the altered gene from one parent to have the condition). Molecular genetic testing can help confirm the diagnosis. Is there genetic testing for primary familial brain calcification (PFBC) even though not all of the causitive genes are known? Genetic testing may help to confirm the diagnosis. For individuals in who a diagnosis of PFBC is being considered, other causes of brain calcification should be eliminated prior to pursuing genetic testing, particularly in simplex cases. Testing that might be done includes biochemical analysis of blood and urine, as well s analysis of cerebrospinal fluid. If no other primary cause for brain calcification is detected or if the family history is suggestive of autosomal dominant inheritance, molecular genetic testing should be considered. Sequencing of SLC20A2 should be pursued first. If no mutation is identified, deletion/duplication analysis of SLC20A2 may be considered. If no identifiable mutation or deletion in SLC20A2 is found, sequence analysis of PDGFRB and PDGFB may be considered.",30280 +What are the genetic changes related to protein C deficiency ?,"Protein C deficiency is caused by mutations in the PROC gene. This gene provides instructions for making protein C, which is found in the bloodstream and is important for controlling blood clotting. Protein C blocks the activity of (inactivates) certain proteins that promote blood clotting. Most of the mutations that cause protein C deficiency change single protein building blocks (amino acids) in protein C, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional protein C to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots. Protein C deficiency can be divided into type I and type II based on how mutations in the PROC gene affect protein C. Type I is caused by PROC gene mutations that result in reduced levels of protein C, while type II is caused by PROC gene mutations that result in the production of an altered protein C with reduced activity. Both types of mutations can be associated with mild or severe protein C deficiency; the severity is determined by the number of PROC gene mutations an individual has.",30281 +Does phosphocitrate block calcification-induced articular joint degeneration in a guinea pig model?,"CaNaPC diminishes mineralization in a cutaneous calcergy model and a model of OA in which intraarticular mineralization is a prominent feature. In the OA guinea pig model, inhibition of calcification is accompanied by diminished cartilage degeneration. CaNaPC has no therapeutic effect in the hemi-meniscectomy model. We conclude that pathologic calcification may initiate or amplify processes leading to cartilage degeneration and that CaNaPC may interrupt such a pathway.",30282 +Does multi-variate analysis predict clinical outcome 30 days after middle cerebral artery infarction?,"Our work demonstrates that a good clinical outcome at day 30 depends on a good initial clinical score at day 1, a small volume of infarction, a small decrease of NAA/Cho, and being of the female gender.",30283 +How many people are affected by GM1 gangliosidosis ?,"GM1 gangliosidosis is estimated to occur in 1 in 100,000 to 200,000 newborns. Type I is reported more frequently than the other forms of this condition. Most individuals with type III are of Japanese descent.",30284 +Does backwash ileitis affect pouch outcome in patients with ulcerative colitis with restorative proctocolectomy?,"Ileal inflammation is not a contraindication for restorative proctocolectomy with ileal pouch construction in patients with UC or idiopathic inflammatory bowel disease of indeterminate type. Ileal inflammation with pancolitis is not a useful criterion for classifying otherwise typical UC as colitis of indeterminate type, because pouch outcomes are not affected.",30285 +What are the symptoms of Lowry Wood syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Lowry Wood syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Microcephaly 90% Short stature 90% Abnormality of retinal pigmentation 50% Arthralgia 50% Cognitive impairment 50% Nystagmus 50% Abnormality of nail color 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Aplasia/Hypoplasia of the radius 7.5% Astigmatism 7.5% Brachydactyly syndrome 7.5% Delayed skeletal maturation 7.5% Elbow dislocation 7.5% Limitation of joint mobility 7.5% Patellar dislocation 7.5% Platyspondyly 7.5% Visual impairment 7.5% Autosomal recessive inheritance - Epiphyseal dysplasia - Intellectual disability, mild - Irregular epiphyses - Shallow acetabular fossae - Small epiphyses - Small for gestational age - Squared iliac bones - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30286 +What causes Neutral lipid storage disease with myopathy ?,"Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides, allowing them to accumulate in muscle and tissues throughout the body. This results in the signs and symptoms seen in people with neutral lipid storage disease with myopathy.",30287 +Do the effects of peer counseling on smoking cessation and reduction?,"Peer counseling reduced the number of cigarettes smoked daily but did not increase cigarette abstinence rates. Infant birth weight increases with both smoking cessation and smoking reduction, suggesting that peer counseling intervention programs may improve newborn health despite their failure to affect smoking cessation.",30288 +Who is at risk for Colorectal Cancer? ?,Yes. Ulcerative colitis is a condition in which there is a chronic break in the lining of the colon. It has been associated with an increased risk of colon cancer.,30289 +How many people are affected by Silver syndrome ?,"Although Silver syndrome appears to be a rare condition, its exact prevalence is unknown.",30290 +What causes Sleep Apnea ?,"When you're awake, throat muscles help keep your airway stiff and open so air can flow into your lungs. When you sleep, these muscles relax, which narrows your throat. + +Normally, this narrowing doesnt prevent air from flowing into and out of your lungs. But if you have sleep apnea, your airway can become partially or fully blocked because: + +Your throat muscles and tongue relax more than normal. + +Your tongue and tonsils (tissue masses in the back of your mouth) are large compared with the opening into your windpipe. + +You're overweight. The extra soft fat tissue can thicken the wall of the windpipe. This narrows the inside of the windpipe, which makes it harder to keep open. + +The shape of your head and neck (bony structure) may cause a smaller airway size in the mouth and throat area. + +The aging process limits your brain signals' ability to keep your throat muscles stiff during sleep. Thus, your airway is more likely to narrow or collapse. + +Not enough air flows into your lungs if your airway is partially or fully blocked during sleep. As a result, loud snoring and a drop in your blood oxygen level can occur. + +If the oxygen drops to a dangerous level, it triggers your brain to disturb your sleep. This helps tighten the upper airway muscles and open your windpipe. Normal breathing then starts again, often with a loud snort or choking sound. + +Frequent drops in your blood oxygen level and reduced sleep quality can trigger the release of stress hormones. These hormones raise your heart rate and increase your risk for high blood pressure, heart attack, stroke, and arrhythmias (irregular heartbeats). The hormones also can raise your risk for, or worsen, heart failure. + +Untreated sleep apnea also can lead to changes in how your body uses energy. These changes increase your risk for obesity and diabetes.",30291 +What is (are) Acne ?,"Acne is a common skin disease that causes pimples. Pimples form when hair follicles under your skin clog up. Most pimples form on the face, neck, back, chest, and shoulders. Anyone can get acne, but it is common in teenagers and young adults. It is not serious, but it can cause scars. No one knows exactly what causes acne. Hormone changes, such as those during the teenage years and pregnancy, probably play a role. There are many myths about what causes acne. Chocolate and greasy foods are often blamed, but there is little evidence that foods have much effect on acne in most people. Another common myth is that dirty skin causes acne; however, blackheads and pimples are not caused by dirt. Stress doesn't cause acne, but stress can make it worse. If you have acne - Clean your skin gently - Try not to touch your skin - Avoid the sun Treatments for acne include medicines and creams. NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases",30292 +What causes Warthin tumor ?,"The exact underlying cause of Warthin tumor is currently unknown. However, smoking is thought to increase the risk of developing the tumor. Some studies suggest that radiation exposure and autoimmune disorders may also be associated with Warthin tumor.",30293 +Is PDGFRB-associated chronic eosinophilic leukemia inherited ?,"PDGFRB-associated chronic eosinophilic leukemia is not inherited and occurs in people with no history of the condition in their families. Chromosomal rearrangements that lead to a PDGFRB fusion gene are somatic mutations, which are mutations acquired during a person's lifetime and present only in certain cells. The somatic mutation occurs initially in a single cell, which continues to grow and divide, producing a group of cells with the same mutation (a clonal population).",30294 +Does increased CYP2J3 expression reduce insulin resistance in fructose-treated rats and db/db mice?,These results highlight the beneficial roles of the CYP epoxygenase-EET system in diabetes and insulin resistance.,30295 +What are the treatments for Alpha-1 Antitrypsin Deficiency ?,"Alpha-1 antitrypsin (AAT) deficiency has no cure, but its related lung diseases have many treatments. Most of these treatments are the same as the ones used for a lung disease called COPD (chronic obstructive pulmonary disease). + +If you have symptoms related to AAT deficiency, your doctor may recommend: + +Medicines called inhaled bronchodilators (brong-ko-di-LA-tors) and inhaled steroids. These medicines help open your airways and make breathing easier. They also are used to treat asthma and COPD. + +Flu and pneumococcal (noo-mo-KOK-al) vaccines to protect you from illnesses that could make your condition worse. Prompt treatment of lung infections also can help protect your lungs. + +Pulmonary rehabilitation (rehab). Rehab involves treatment by a team of experts at a special clinic. In rehab, you'll learn how to manage your condition and function at your best. + +Extra oxygen, if needed. + +A lung transplant. A lung transplant may be an option if you have severe breathing problems. If you have a good chance of surviving the transplant surgery, you may be a candidate for it. + +Augmentation (og-men-TA-shun) therapy is a treatment used only for people who have AAT-related lung diseases. This therapy involves getting infusions of the AAT protein. The infusions raise the level of the protein in your blood and lungs. + +Not enough research has been done to show how well this therapy works. However, some research suggests that this therapy may slow the development of AAT deficiency in people who don't have severe disease. + +People who have AAT deficiency and develop related liver or skin diseases will be referred to doctors who treat those diseases. + +Future Treatments + +Researchers are working on possible treatments that will target the faulty AAT genes and replace them with healthy genes. These treatments are in the early stages of development. + +Researchers also are studying therapies that will help misshapen AAT proteins move from the liver into the bloodstream. They're also studying a type of augmentation therapy in which the AAT protein is inhaled instead of injected into a vein. + +If you're interested in new treatments, ask your doctor about ongoing clinical trials for AAT deficiency.",30296 +Does cerebellar stroke impair temporal but not spatial accuracy during implicit motor learning?,"During implicit motor learning, the cerebellum appears to participate in the formation of predictive strategies for the timing of motor responses, rather than for the accuracy of motor execution. Because deficits were found in the contralesional upper extremity, the authors suggest that this function is not lateralized to 1 hemisphere; cerebellar output may affect the formation of an internal model for timing movements in both upper extremities.",30297 +Do high Fiber and Low Starch Intakes Are Associated with Circulating Intermediate Biomarkers of Type 2 Diabetes among Women?,"A greater fiber intake and a lower starch-to-fiber intake ratio are favorably associated with adiponectin and HbA1c, but only cereal fiber intake was associated with CRP in women. Further research is warranted to understand the potential mechanism of these associations in early progression of T2D.",30298 +Is nitric oxide produced by cytokine-activated pulmonary artery smooth muscle cells cytotoxic to cocultured endothelium?,The NO produced by cytokine-activated RPASM has local cytotoxic effects on RPAE in coculture. Such NO produced in the vasculature may be a factor in the origin of acute lung injury under conditions of trauma and sepsis.,30299 +Is cancerous inhibitor of protein phosphatase 2A overexpressed in cervical cancer and upregulated by human papillomavirus 16 E7 oncoprotein?,"CIP2A is overexpressed in cervical cancer and promotes the malignant growth of cervical cancer cells. Its expression is upregulated by HPV16 E7. Therefore, CIP2A plays an important role in carcinogenesis of cervical cancer and shows promise for the diagnosis and treatment of cervical cancer.",30300 +"Are supraspinal , not spinal , alpha ( 2 ) adrenoceptors involved in the anesthetic-sparing and hemodynamic-stabilizing effects of systemic clonidine in rats?","In the regions above mesencephalon, alpha(2) adrenoceptors were the most responsible for the minimum alveolar concentration-reducing effect and both the lower brainstem and regions above mesencephalon were involved in the minimum alveolar concentration blocking adrenergic response-reducing effect of clonidine. The spinal alpha(2) adrenoceptors did not significantly contribute to these effects of clonidine.",30301 +Is secondary calpain3 deficiency in 2q-linked muscular dystrophy : titin the candidate gene?,"These results imply that titin mutations may be responsible for TMD, and that the pathophysiologic pathway following calpain3 deficiency may overlap with LGMD2A. The loss of calpain3 could be a downstream effect of the deficient TMD gene product. The significance of the secondary calpain3 defect for the pathogenesis of TMD was emphasized by similar calpain3 deficiency in the MDM mouse, which is suggested to be a mouse model for TMD. Homozygous mutation at the 2q locus may thus be capable of producing yet another LGMD.",30302 +Does diurnal and nocturnal blood pressure drop in patients with focal ischemic glaucoma?,It is important to detect arterial hypotension - one of the components of the vascular factor - during examination of a patient with normal-pressure glaucoma. This is one element in preserving the best possible perfusion of the optic nerve.,30303 +Is continuous warfarin therapy safe and feasible in catheter ablation of atrial fibrillation?,Continuous oral anticoagulant therapy is a safe and feasible alternative for bridging therapy in patients undergoing catheter ablation of atrial fibrillation.,30304 +What is (are) Alpers-Huttenlocher syndrome ?,"Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease. People with Alpers-Huttenlocher syndrome usually have additional signs and symptoms. Most have problems with coordination and balance (ataxia) and disturbances in nerve function (neuropathy). Neuropathy can lead to abnormal or absent reflexes (areflexia). In addition, affected individuals may develop weak muscle tone (hypotonia) that worsens until they lose the ability to control their muscles and movement. Some people with Alpers-Huttenlocher syndrome lose the ability to walk, sit, or feed themselves. Other movement-related symptoms in affected individuals can include involuntary muscle twitches (myoclonus), uncontrollable movements of the limbs (choreoathetosis), or a pattern of movement abnormalities known as parkinsonism. Affected individuals may have other brain-related signs and symptoms. Migraine headaches, often with visual sensations or auras, are common. Additionally, people with this condition may have decreased brain function that is demonstrated as sleepiness, inability to concentrate, irritability, or loss of language skills or memory. Some people with the condition may lose their eyesight or hearing. People with Alpers-Huttenlocher syndrome can survive from a few months to more than 10 years after the condition first appears.",30305 +What is (are) Vulvar Disorders ?,"The vulva is the external part of a woman's genitals. Some problems you can have with the vulvar area include - Bacterial or fungal infections - Skin problems due to allergy - Vulvar cancer - Vulvodynia, or vulvar pain Symptoms may include redness, itching, pain, or cracks in the skin. Treatment depends on the cause.",30306 +Does sevoflurane postconditioning ameliorate oxygen-glucose deprivation-reperfusion injury in the rat hippocampus?,"Postconditioning with sevoflurane reduces neuronal damage after OGD-reperfusion injury in the CA1 area of rat hippocampus, in vitro.",30307 +What are the genetic changes related to Weissenbacher-Zweymller syndrome ?,"Mutations in the COL11A2 gene cause Weissenbacher-Zweymller syndrome. The COL11A2 gene is one of several genes that provide instructions for the production of type XI collagen. This type of collagen is important for the normal development of bones and other connective tissues that form the body's supportive framework. At least one mutation in the COL11A2 gene is known to cause Weissenbacher-Zweymller syndrome. This mutation disrupts the assembly of type XI collagen molecules, resulting in delayed bone development and the other features of this disorder.",30308 +Does study of a US cohort support the role of ZNF644 and high-grade myopia susceptibility?,Our study has identified two novel variants in ZNF644 associated with high-grade myopia in a US cohort. Our results suggest that ZNF644 may play a role in myopia development.,30309 +Are blood lactate levels better prognostic indicators than TNF and IL-6 levels in patients with septic shock?,These data indicate that the large variability in TNF alpha and IL-6 levels limit their prognostic significance in patients with septic shock. The predictive value of the trend in cytokine levels over time is not superior to that of trends in blood lactate levels.,30310 +Do you have information about Fluid and Electrolyte Balance,"Summary : Electrolytes are minerals in your body that have an electric charge. They are in your blood, urine and body fluids. Maintaining the right balance of electrolytes helps your body's blood chemistry, muscle action and other processes. Sodium, calcium, potassium, chlorine, phosphate and magnesium are all electrolytes. You get them from the foods you eat and the fluids you drink. Levels of electrolytes in your body can become too low or too high. That can happen when the amount of water in your body changes, causing dehydration or overhydration. Causes include some medicines, vomiting, diarrhea, sweating or kidney problems. Problems most often occur with levels of sodium, potassium or calcium.",30311 +Do you have information about Volcanoes,"Summary : A volcano is a vent in the Earth's crust. Hot rock, steam, poisonous gases, and ash reach the Earth's surface when a volcano erupts. An eruption can also cause earthquakes, mudflows and flash floods, rock falls and landslides, acid rain, fires, and even tsunamis. Volcanic gas and ash can damage the lungs of small infants, older adults, and people with severe respiratory illnesses. Volcanic ash can affect people hundreds of miles away from the eruption. Although there are no guarantees of safety during a volcanic eruption, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope. Federal Emergency Management Agency",30312 +Does estrogen receptor β-selective phytoestrogenic formulation prevent physical and neurological changes in a preclinical model of human menopause?,"Overall, the phyto-β-SERM diet induced physical and neurological responses comparable with ovary-intact mice, suggesting the therapeutic potential of the phyto-β-SERM formulation for the prevention/alleviation of climacteric symptoms and decline in brain responses induced by ovarian hormone loss, which provides the basis for further work in postmenopausal women.",30313 +What are the genetic changes related to citrullinemia ?,"Mutations in the ASS1 and SLC25A13 genes cause citrullinemia. Citrullinemia belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of chemical reactions that takes place in liver cells. These reactions process excess nitrogen that is generated when protein is used by the body. The excess nitrogen is used to make a compound called urea, which is excreted in urine. Mutations in the ASS1 gene cause type I citrullinemia. This gene provides instructions for making an enzyme, argininosuccinate synthase 1, that is responsible for one step of the urea cycle. Mutations in the ASS1 gene reduce the activity of the enzyme, which disrupts the urea cycle and prevents the body from processing nitrogen effectively. Excess nitrogen (in the form of ammonia) and other byproducts of the urea cycle accumulate in the bloodstream. Ammonia is particularly toxic to the nervous system, which helps explain the neurologic symptoms (such as lethargy, seizures, and ataxia) that are often seen in type I citrullinemia. Mutations in the SLC25A13 gene are responsible for adult-onset type II citrullinemia and NICCD. This gene provides instructions for making a protein called citrin. Within cells, citrin helps transport molecules used in the production and breakdown of simple sugars, the production of proteins, and the urea cycle. Molecules transported by citrin are also involved in making nucleotides, which are the building blocks of DNA and its chemical cousin, RNA. Mutations in the SLC25A13 gene typically prevent cells from making any functional citrin, which inhibits the urea cycle and disrupts the production of proteins and nucleotides. The resulting buildup of ammonia and other toxic substances leads to the signs and symptoms of adult-onset type II citrullinemia. A lack of citrin also leads to the features of NICCD, although ammonia does not build up in the bloodstream of infants with this condition.",30314 +Does personal and family medical history correlate of rheumatoid arthritis?,Patients with medical conditions indicating compromised immunity are at increased risk of developing RA. These results may indicate common pathogenesis of an environmental or genetic nature between such diseases.,30315 +Does pretreatment of brain dead rabbits with pinacidil before prolonged cold-storage with an extracellular solution alter aortic endothelial function?,Pre-treatment of brain dead rabbits with pinacidil before prolonged cold-storage with STH solution significantly impaired endothelium-dependent vasorelaxation in comparison to storage with STH solution. The role of PCO pre-treatment in the context of cardiac transplantation needs to be reconsidered.,30316 +Does [ Huperzine A attenuate cognitive deficits and brain injury after hypoxia-ischemic brain damage in neonatal rats ]?,"The unilateral HI brain injury in a neonatal rat model was associated with cognitive deficits, and that Huperzine A treatment may be protective against both brain injury and spatial memory impairment. Huperzine A showed a therapeutic potential for the treatment of hypoxic-ischemic encephalopathy (HIE) caused by the perinatal asphyxia.",30317 +Does cellular FLICE-like inhibitory protein secure intestinal epithelial cell survival and immune homeostasis by regulating caspase-8?,cFlip is required for intestinal tissue homeostasis in mice. It controls the level of activation of caspase-8 to promote survival of intestinal epithelial cells.,30318 +How many people are affected by COL4A1-related brain small-vessel disease ?,"COL4A1-related brain small-vessel disease is a rare condition, although the exact prevalence is unknown. At least 50 individuals with this condition have been described in the scientific literature.",30319 +Does lazaroid improve intestinal blood flow in the rat during hyperdynamic bacteraemia?,"E. coli bacteraemia led to intestinal vasoconstriction and hypoperfusion. Lazaroid reduced this effect without altering central haemodynamic responses, suggesting that free radicals have a deleterious effect on the intestinal microcirculation during bacteraemia.",30320 +Does laparoscopic surgery improve pregnancy outcomes in women with suspected endometriosis with or without pathological confirmation?,"There is no difference in fertility outcomes in women with UI, whether or not suspected endometriosis is confirmed pathologically.",30321 +Do symptom criteria distinguish between functional and organic dyspepsia?,"There was a considerable overlap between different subgroups, and the criteria did not differentiate between organic and non-organic causes of dyspepsia though the symptom criteria in most cases showed an independent value in discriminating between different subgroups. The clinical usefulness of the criteria remains to be shown.",30322 +Does meropenem-clavulanate have high in vitro activity against multidrug-resistant Mycobacterium tuberculosis?,"The present study shows that meropenem-clavulanate has low MICs against MTB in vitro, including MDR and XDR-TB isolates. Meropenem has good tissue penetration and low protein-binding, but requires an intravenous access and is relatively expensive. Meropenem-clavulanate may be a treatment option in selected cases of MDR/XDR-TB, although further clinical studies are warranted.",30323 +Is propionic acidemia inherited ?,"This condition is inherited in an autosomal recessive pattern, 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.",30324 +What are the treatments for Alstrm syndrome ?,These resources address the diagnosis or management of Alstrm syndrome: - Gene Review: Gene Review: Alstrom Syndrome - Genetic Testing Registry: Alstrom syndrome - MedlinePlus Encyclopedia: Acanthosis Nigricans - MedlinePlus Encyclopedia: Alstrm syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30325 +Does new sonographic method for fetuses with small abdominal circumference improve fetal weight estimation?,"The specifically designed equations help to improve fetal weight estimation for fetuses with an AC ≤ 29.0 cm. For optimal weight estimation, we recommend using the new formula II.",30326 +"Is hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome inherited ?","This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",30327 +How many people are affected by epidermolysis bullosa simplex ?,"The exact prevalence of epidermolysis bullosa simplex is unknown, but this condition is estimated to affect 1 in 30,000 to 50,000 people. The localized type is the most common form of the condition.",30328 +Is lung cancer inherited ?,"Most cases of lung cancer are not related to inherited gene changes. These cancers are associated with somatic mutations that occur only in certain cells in the lung. When lung cancer is related to inherited gene changes, the cancer risk is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase a person's chance of developing cancer. It is important to note that people inherit an increased risk of cancer, not the disease itself. Not all people who inherit mutations in these genes will develop lung cancer.",30329 +What are the symptoms of Lucey-Driscoll syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Lucey-Driscoll syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral palsy - Jaundice - Kernicterus - Neonatal unconjugated hyperbilirubinemia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30330 +What are the symptoms of Pachygyria with mental retardation and seizures ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Pachygyria with mental retardation and seizures. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Seizures 90% Premature birth 50% Abnormality of the skeletal system - Arachnoid cyst - Atypical absence seizures - Autosomal recessive inheritance - Generalized tonic-clonic seizures - Intellectual disability - Pachygyria - Profound static encephalopathy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30331 +Does glove powder increase Staphylococcus aureus abscess rate in a rat model?,Surgical glove power reduces the inoculum of bacteria needed to produce an abscess and increases the likelihood of abscess formation in Sprague-Dawley rats.,30332 +Does antioxidant LY231617 enhance electrophysiologic recovery after global cerebral ischemia in dogs?,LY231617 improves recovery of cerebral electrical function after complete transient global ischemia via mechanisms unrelated to cerebral circulatory effects.,30333 +Does calendula officinalis ameliorate l-arginine-induced acute necrotizing pancreatitis in rats?,"The beneficial effect of COE may be attributed to its antioxidant, antinitrosative and antifibrotic actions. Hence, the study concludes that COE promotes spontaneous repair and regeneration of the pancreas.",30334 +What is (are) Birth Control ?,"Birth control, also known as contraception, is designed to prevent pregnancy. Birth control methods may work in a number of different ways: - Preventing sperm from getting to the eggs. Types include condoms, diaphragms, cervical caps, and contraceptive sponges. - Keeping the woman's ovaries from releasing eggs that could be fertilized. Types include birth control pills, patches, shots, vaginal rings, and emergency contraceptive pills. - IUDs, devices which are implanted into the uterus. They can be kept in place for several years. - Sterilization, which permanently prevents a woman from getting pregnant or a man from being able to get a woman pregnant Your choice of birth control should depend on several factors. These include your health, frequency of sexual activity, number of sexual partners and desire to have children in the future. Your health care provider can help you select the best form of birth control for you. NIH: National Institute of Child Health and Human Development",30335 +What is (are) Spondyloepiphyseal dysplasia congenita ?,Spondyloepiphyseal dysplasia congenita is an inherited disorder of bone growth that affects the bones of the spine and ends of the long bones in the arms and legs. Features of this condition include short stature (dwarfism); a very short trunk and neck; abnormal curvature of the spine; barrel-shaped chest; shortened limbs; an abnormality of the hip joint; and problems with vision and hearing. Arthritis and decreased joint mobility often develop early in life. More than 175 cases have been reported in the scientific literature. This condition is caused by mutations in the COL2A1 gene and is inherited in an autosomal dominant pattern. Most cases result from new mutations in the gene and occur in people with no family history of the condition.,30336 +Is mucopolysaccharidosis type IV inherited ?,"This condition is inherited in an autosomal recessive pattern, 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.",30337 +What is the outlook for Mitochondrial Myopathy ?,"The prognosis for patients with mitochondrial myopathies varies greatly, depending largely on the type of disease and the degree of involvement of various organs. These disorders cause progressive weakness and can lead to death.",30338 +What are the symptoms of Wells-Jankovic syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Wells-Jankovic syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Gait disturbance 90% Hemiplegia/hemiparesis 90% Hyperreflexia 90% Hypertonia 90% Impaired pain sensation 90% Sensorineural hearing impairment 90% Abnormality of the genital system 50% Opacification of the corneal stroma 50% Short stature 50% Visual impairment 50% Incoordination 7.5% Nystagmus 7.5% Cataract - Hearing impairment - Hypogonadism - Juvenile onset - Spastic paraparesis - Tremor - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30339 +What are the symptoms of Porphyria cutanea tarda ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Porphyria cutanea tarda. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormal blistering of the skin 90% Cutaneous photosensitivity 90% Hemolytic anemia 90% Hypopigmented skin patches 90% Irregular hyperpigmentation 90% Skin rash 90% Thin skin 90% Atypical scarring of skin 7.5% Cerebral palsy 7.5% Cirrhosis 7.5% Edema 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Neoplasm of the liver 7.5% Reduced consciousness/confusion 7.5% Sudden cardiac death 7.5% Alopecia - Autosomal dominant inheritance - Facial hypertrichosis - Fragile skin - Hepatocellular carcinoma - Hyperpigmentation in sun-exposed areas - Onycholysis - Scleroderma - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30340 +Is serum hepatocyte growth factor increased in Hashimoto 's thyroiditis whether or not it is associated with nodular goiter as compared with healthy non-goitrous individuals?,"Serum HGF is increased in HT, especially associated to thyroid nodules, as compared with healthy non-goitrous individuals.",30341 +Does fast growth involve high dependence on stored resources in seedlings of Mediterranean evergreen trees?,"Seedlings of Mediterranean evergreen trees have distinct C and N storage physiologies, with relative growth rate driving the contribution of remobilized resources to new growth. These differences may reduce competition and facilitate species coexistence.",30342 +Are tumor infiltrating lymphocytes prognostic in triple negative breast cancer and predictive for trastuzumab benefit in early breast cancer : results from the FinHER trial?,Higher levels of TILs present at diagnosis were significantly associated with decreased distant recurrence rates in primary TNBC. These results confirm our previous data and further support that TILs should be considered as a robust prognostic factor in this BC subtype. We also report for the first time an association between higher levels of TILs and increased trastuzumab benefit in HER2+ disease. Further research into why some TN and HER2+ BCs can or cannot generate a host antitumor immune response and how trastuzumab can favorably alter the immune microenvironment is warranted.,30343 +Does thrombocytosis before pre-operative chemoradiotherapy predict poor response and shorter local recurrence-free survival in rectal cancer?,Platelet count before CRT should be a promising biomarker for predicting the efficacy of CRT and the risk of local recurrence in rectal cancer patients after CRT.,30344 +What are the genetic changes related to familial dysautonomia ?,"Mutations in the IKBKAP gene cause familial dysautonomia. The IKBKAP gene provides instructions for making a protein called IKK complex-associated protein (IKAP). This protein is found in a variety of cells throughout the body, including brain cells. Nearly all individuals with familial dysautonomia have two copies of the same IKBKAP gene mutation in each cell. This mutation can disrupt how information in the IKBKAP gene is pieced together to make a blueprint for the production of IKAP protein. As a result of this error, a reduced amount of normal IKAP protein is produced. This mutation behaves inconsistently, however. Some cells produce near normal amounts of the protein, and other cellsparticularly brain cellshave very little of the protein. Critical activities in brain cells are probably disrupted by reduced amounts or the absence of IKAP protein, leading to the signs and symptoms of familial dysautonomia.",30345 +What is (are) Mumps ?,"Mumps is an illness caused by the mumps virus. It starts with - Fever - Headache - Muscle aches - Tiredness - Loss of appetite After that, the salivary glands under the ears or jaw become swollen and tender. The swelling can be on one or both sides of the face. Symptoms last 7 to 10 days. Serious complications are rare. You can catch mumps by being with another person who has it. There is no treatment for mumps, but the measles-mumps-rubella (MMR) vaccine can prevent it. Before the routine vaccination program in the United States, mumps was a common illness in infants, children and young adults. Now it is a rare disease in the U.S. Centers for Disease Control and Prevention",30346 +Does ranolazine as a cardioplegia additive improve recovery of diastolic function in isolated rat hearts?,Our results suggest that Ran may have therapeutic potential as an adjunct to CP and further support a protective role of Na(+) current inhibition during ischemia/reperfusion.,30347 +Is quality of life in stabilized patients with schizophrenia mainly associated with resilience and self-esteem?,Our results highlight the complex nature of QoL in patients suffering from schizophrenia. They underscore that significant efforts are necessary to enhance resilience and self-esteem and to diminish hopelessness as well as affective and positive symptoms in patients with schizophrenia.,30348 +What are the genetic changes related to Huntington disease ?,"Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with Huntington disease, the CAG segment is repeated 36 to more than 120 times. People with 36 to 39 CAG repeats may or may not develop the signs and symptoms of Huntington disease, while people with 40 or more repeats almost always develop the disorder. An increase in the size of the CAG segment leads to the production of an abnormally long version of the huntingtin protein. The elongated protein is cut into smaller, toxic fragments that bind together and accumulate in neurons, disrupting the normal functions of these cells. The dysfunction and eventual death of neurons in certain areas of the brain underlie the signs and symptoms of Huntington disease.",30349 +What are the treatments for ALG6-congenital disorder of glycosylation ?,These resources address the diagnosis or management of ALG6-CDG: - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30350 +Does treatment of obstructive sleep apnea reduce the risk of atrial fibrillation recurrence after catheter ablation?,CPAP is an important therapy in OSA patients undergoing PVI that improves arrhythmia free survival. PVI offers limited value to OSA patients not treated with CPAP.,30351 +Is Bardet-Biedl syndrome inherited ?,"Bardet-Biedl syndrome is typically inherited in an autosomal recessive pattern, which means both copies of a BBS 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.",30352 +What is (are) Pericarditis ?,"Pericarditis (PER-i-kar-DI-tis) is a condition in which the membrane, or sac, around your heart is inflamed. This sac is called the pericardium (per-i-KAR-de-um). + +The pericardium holds the heart in place and helps it work properly. The sac is made of two thin layers of tissue that enclose your heart. Between the two layers is a small amount of fluid. This fluid keeps the layers from rubbing against each other and causing friction. + +Pericardium + + + +In pericarditis, the layers of tissue become inflamed and can rub against the heart. This causes chest pain, a common symptom of pericarditis. + +The chest pain from pericarditis may feel like pain from a heart attack. More often, the pain may be sharp and get worse when you inhale, and improve when you are sitting up and leaning forward. If you have chest pain, you should call 911 right away, as you may be having a heart attack. + +Overview + +In many cases, the cause of pericarditis is unknown. Viral infections are likely a common cause of pericarditis, although the virus may never be found. Bacterial, fungal, and other infections also can cause pericarditis. + +Other possible causes include heart attack or heart surgery, other medical conditions, injuries, and certain medicines. + +Pericarditis can be acute or chronic. ""Acute"" means that it occurs suddenly and usually doesn't last long. ""Chronic"" means that it develops over time and may take longer to treat. + +Both acute and chronic pericarditis can disrupt your heart's normal rhythm or function and possibly (although rarely) lead to death. However, most cases of pericarditis are mild; they clear up on their own or with rest and simple treatment. + +Other times, more intense treatments are needed to prevent complications. Treatments may include medicines and, less often, procedures or surgery. + +Outlook + +It may take from a few days to weeks or even months to recover from pericarditis. With proper and prompt treatment, such as rest and ongoing care, most people fully recover from pericarditis. Proper treatment also can help reduce the chance of getting the condition again.",30353 +Does thymic stromal lymphopoietin convert human epidermal Langerhans cells into antigen-presenting cells that induce proallergic T cells?,These cytokine patterns correspond to those described for TSLP-treated blood DCs. They highlight a direct effect of TSLP on epidermal LCs.,30354 +Is cD154 expressed during treatment with calcineurin inhibitors after organ transplantation?,"Although CI strongly suppressed pharmacologic and allogeneic induction of CD154 expression on T cells in vitro at concentrations at approximately clinical trough levels, CD154 is prominently expressed during CI therapy in lymphoid tissue and (sporadically) in liver allografts. This suggests that the CD154-CD40 pathway remains functional during CI therapy, which may contribute to allograft rejections in the clinical setting.",30355 +What are the treatments for C3 glomerulopathy ?,"These resources address the diagnosis or management of C3 glomerulopathy: - Gene Review: Gene Review: Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: C3 Glomerulonephritis - Genetic Testing Registry: CFHR5 deficiency - Genetic Testing Registry: CFHR5-Related Dense Deposit Disease / Membranoproliferative Glomerulonephritis Type II - Genetic Testing Registry: Factor H deficiency - Genetic Testing Registry: Mesangiocapillary glomerulonephritis, type II - National Institute of Diabetes and Digestive and Kidney Diseases: Kidney Failure: Choosing a Treatment That's Right for You These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",30356 +Does neurofibromatosis 2 lead to higher incidence of strabismological and neuro-ophthalmological disorders?,"The present study is, to our knowledge, the first to examine a larger collection of NF2 patients for strabismological and neuro-ophthalmological lesions. Compared with the normal population, our sample showed a higher amount of strabismus, refractive errors and an increased incidence of vestibular nystagmus.",30357 +Do relationships with mothers and peers moderate the association between childhood sexual abuse and anxiety disorders?,The findings from the current study suggest that relationships with friends and parents may play an important role in understanding the links between childhood sexual abuse and later anxiety disorders and that these relationships may also be important sources of protection against the negative effects of childhood sexual abuse.,30358 +Does claudin-4 control the receptor tyrosine kinase EphA2 pro-oncogenic switch through β-catenin?,We conclude that CLDN4 serves to restrain pro-oncogenic signaling from EphA2 by limiting the activity of β-catenin and PI3K and preventing phosphorylation of EphA2 on S897 by AKT. This suggests that interventions directed at enhancing the level or functional activity of CLDN4 may be of therapeutic interest.,30359 +What are the treatments for Fitz-Hugh-Curtis syndrome ?,"Fitz-Hugh-Curtis syndrome (FHCS) is treated with antibiotics, given by intravenous (IV) injection or as medication taken by mouth. The specific antibiotic medication is determined by the type of underlying infection; that is, treatment depends on whether the infection is chlamydia or gonorrhea. If pain continues after treatment with antibiotics, surgery (laparoscopy) may be done to remove bands of tissue (adhesions) that connect the liver to the abdominal wall and cause pain in individuals with FHCS.",30360 +Does an upstream polymorphism associated with lactase persistence have increased enhancer activity?,The discovery of a functional difference between the 2 alleles at position -13910 supports the notion that the molecular difference between lactase persistence and nonpersistence is caused by the mutation at position -13910.,30361 +How many people are affected by X-linked dystonia-parkinsonism ?,"X-linked dystonia-parkinsonism has been reported in more than 500 people of Filipino descent, although it is likely that many more Filipinos are affected. Most people with this condition can trace their mother's ancestry to the island of Panay in the Philippines. The prevalence of the disorder is 5.24 per 100,000 people on the island of Panay.",30362 +What is (are) Inflammatory linear verrucous epidermal nevus ?,"Inflammatory linear verrucous epidermal nevus (ILVEN) is a type of skin overgrowth. The skin nevi appear as skin colored, brown, or reddish, wort-like papules. The nevi join to form well-demarcated plaques. The plaques may be itchy and often affects only one side of the body. ILVEN tends to be present from birth to early childhood. It affects females more often than males. It usually occurs alone. Rarely ILVEN occurs in association with epidermal nevus syndrome. While rare ILVEN may become cancerous (i.e., transform to basal cell or squamous cell carcinoma). The cause of ILVEN is currently unknown. Click here to visit the DermNetNZ Web site and view an image of ILVEN.",30363 +What are the treatments for Osteoarthritis ?,"Doctors consider a number of factors when choosing medicines for their patients. In particular, they look at the type of pain the patient may be having and any possible side effects from the drugs. For pain relief, doctors usually start with acetaminophen because the side effects are minimal. If acetaminophen does not relieve pain, then non-steroidal anti-inflammatory drugs such as ibuprofen and naproxen may be used. Some NSAIDs are available over the counter, while more than a dozen others, including a subclass called COX-2 inhibitors, are available only with a prescription. Corticosteroids, hyaluronic acid, and topical creams are also used. Most medicines used to treat osteoarthritis have side effects, so it is important for people to learn about the medicines they take. For example, people over age 65 and those with any history of ulcers or stomach bleeding should use non-steroidal anti-inflammatory drugs, or NSAIDs, with caution. There are measures you can take to help reduce the risk of side effects associated with NSAIDs. These include taking medications with food and avoiding stomach irritants such as alcohol, tobacco, and caffeine. In some cases, it may help to take another medication along with an NSAID to coat the stomach or block stomach acids. Although these measures may help, they are not always completely effective. For more tips on how older adults can avoid medication side effects, see Side Effects in the Taking Medicines topic.",30364 +Do current Mood Symptoms Affect the Accuracy of Retrospective Self-Ratings of Childhood ADHD Symptoms?,Current mood does not affect the accuracy of retrospective self-ratings of ADHD. Future research should aim to provide new measures of anxiety in ADHD to avoid the double counting of hyperactive/impulsive and anxiety symptoms.,30365 +What are the genetic changes related to idiopathic pulmonary fibrosis ?,"The cause of idiopathic pulmonary fibrosis is unknown, although the disease probably results from a combination of genetic and environmental factors. It is likely that genetic changes increase a person's risk of developing idiopathic pulmonary fibrosis, and then exposure to certain environmental factors triggers the disease. Changes in several genes have been suggested as risk factors for idiopathic pulmonary fibrosis. Most of these genetic changes account for only a small proportion of cases. However, mutations in genes known as TERC and TERT have been found in about 15 percent of all cases of familial pulmonary fibrosis and a smaller percentage of cases of sporadic idiopathic pulmonary fibrosis. The TERC and TERT genes provide instructions for making components of an enzyme called telomerase, which maintains structures at the ends of chromosomes known as telomeres. It is not well understood how defects in telomerase are associated with the lung damage characteristic of idiopathic pulmonary fibrosis. Researchers have also examined environmental risk factors that could contribute to idiopathic pulmonary fibrosis. These factors include exposure to wood or metal dust, viral infections, certain medications, and cigarette smoking. Some research suggests that gastroesophageal reflux disease (GERD) may also be a risk factor for idiopathic pulmonary fibrosis; affected individuals may breathe in (aspirate) stomach contents, which over time could damage the lungs.",30366 +Do physiological transport forces govern drug distribution for stent-based delivery?,"Because local concentrations and gradients are inextricably linked to biological effect, our results provide a potential explanation for the variable success of stent-based delivery. We conclude that mere proximity of delivery devices to tissues does not ensure adequate targeting, because physiological transport forces cause local concentrations to deviate significantly from mean concentrations.",30367 +What is (are) Cataract ?,"A cataract is a clouding of the lens in your eye. It affects your vision. Cataracts are very common in older people. By age 80, more than half of all Americans either have a cataract or have had cataract surgery. A cataract can occur in either or both eyes. It cannot spread from one eye to the other. Common symptoms are - Blurry vision - Colors that seem faded - Glare - headlights, lamps or sunlight may seem too bright. You may also see a halo around lights. - Not being able to see well at night - Double vision - Frequent prescription changes in your eye wear Cataracts usually develop slowly. New glasses, brighter lighting, anti-glare sunglasses or magnifying lenses can help at first. Surgery is also an option. It involves removing the cloudy lens and replacing it with an artificial lens. Wearing sunglasses and a hat with a brim to block ultraviolet sunlight may help to delay cataracts. NIH: National Eye Institute",30368 +What is (are) Bronchopulmonary Dysplasia ?,"Bronchopulmonary (BRONG-ko-PUL-mo-NAR-e) dysplasia (dis-PLA-ze-ah), or BPD, is a serious lung condition that affects infants. BPD mostly affects premature infants who need oxygen therapy (oxygen given through nasal prongs, a mask, or a breathing tube). + +Most infants who develop BPD are born more than 10 weeks before their due dates, weigh less than 2 pounds (about 1,000 grams) at birth, and have breathing problems. Infections that occur before or shortly after birth also can contribute to BPD. + +Some infants who have BPD may need long-term breathing support from nasal continuous positive airway pressure (NCPAP) machines or ventilators. + +Overview + +Many babies who develop BPD are born with serious respiratory distress syndrome (RDS). RDS is a breathing disorder that mostly affects premature newborns. These infants' lungs aren't fully formed or aren't able to make enough surfactant (sur-FAK-tant). + +Surfactant is a liquid that coats the inside of the lungs. It helps keep them open so an infant can breathe in air once he or she is born. + +Without surfactant, the lungs collapse, and the infant has to work hard to breathe. He or she might not be able to breathe in enough oxygen to support the body's organs. Without proper treatment, the lack of oxygen may damage the infant's brain and other organs. + +Babies who have RDS are treated with surfactant replacement therapy. They also may need oxygen therapy. Shortly after birth, some babies who have RDS also are treated with NCPAP or ventilators (machines that support breathing). + +Often, the symptoms of RDS start to improve slowly after about a week. However, some babies get worse and need more oxygen or breathing support from NCPAP or a ventilator. + +If premature infants still require oxygen therapy by the time they reach their original due dates, they're diagnosed with BPD. + +Outlook + +Advances in care now make it possible for more premature infants to survive. However, these infants are at high risk for BPD. + +Most babies who have BPD get better in time, but they may need treatment for months or even years. They may continue to have lung problems throughout childhood and even into adulthood. There's some concern about whether people who had BPD as babies can ever have normal lung function. + +As children who have BPD grow, their parents can help reduce the risk of BPD complications. Parents can encourage healthy eating habits and good nutrition. They also can avoid cigarette smoke and other lung irritants.",30369 +Do abdominal Organ Transplant Center Tobacco Use Policies Vary by Organ Program Type?,"There is variation in tobacco use policies among abdominal organ transplant programs and centers. Balancing equity and justice when deciding which patients to waitlist requires an individualized approach to the tobacco-using patient, consideration of organ-specific factors, tobacco-related disease burden, and overall patient health. Such multifaceted assessments might be favorable to inflexible tobacco use policies.",30370 +Does sleep deprivation affect seizure frequency during inpatient video-EEG monitoring?,Acute sleep deprivation did not affect seizure frequency during inpatient monitoring in our patients with intractable complex partial seizures with secondary generalization.,30371 +Does collaborative care for pain result in both symptom improvement and sustained reduction of pain and depression?,"Despite no formal relapse prevention program, intervention patients were more likely than TAU patients to experience continued relief from depression and pain. Collaborative care interventions may provide benefits beyond just symptom reduction.",30372 +Does evidence for conservation and selection of upstream open reading frames suggest probable encoding of bioactive peptides?,"The occurrence of a large number of conserved upstream open reading frames, in association with features consistent with protein translation, strongly suggests evolutionary maintenance of the coding sequence and indicates probable functional expression of the peptides encoded within these upstream open reading frames.",30373 +What causes CREST syndrome ?,"In people with CREST syndrome, the immune system appears to stimulate cells called fibroblasts to produce excess amounts of collagen. Normally, fibroblasts synthesize collagen to help heal wounds, but in this case, the protein is produced even when it's not needed, forming thick bands of connective tissue around the cells of the skin, blood vessels and in some cases, the internal organs. Although an abnormal immune system response and the resulting production of excess collagen appears to be the main cause of limited scleroderma, researchers suspect that other factors may play a role, including: genetic factors, pregnancy, hormones, and environmental factors.",30374 +What is (are) Urinary Incontinence in Men ?,"The urinary tract is the bodys drainage system for removing urine, which is composed of wastes and extra fluid. In order for normal urination to occur, all parts in the urinary tract need to work together in the correct order. + +Kidneys. The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine. The kidneys work around the clock; a person does not control what they do. + +Ureters. Ureters are the thin tubes of muscleone on each side of the bladderthat carry urine from each of the kidneys to the bladder. + +Bladder. The bladder, located in the pelvis between the pelvic bones, is a hollow, muscular, balloon-shaped organ that expands as it fills with urine. Although a person does not control kidney function, a person does control when the bladder empties. Bladder emptying is known as urination. The bladder stores urine until the person finds an appropriate time and place to urinate. A normal bladder acts like a reservoir and can hold 1.5 to 2 cups of urine. How often a person needs to urinate depends on how quickly the kidneys produce the urine that fills the bladder. The muscles of the bladder wall remain relaxed while the bladder fills with urine. As the bladder fills to capacity, signals sent to the brain tell a person to find a toilet soon. During urination, the bladder empties through the urethra, located at the bottom of the bladder. + +Three sets of muscles work together like a dam, keeping urine in the bladder between trips to the bathroom. + +The first set is the muscles of the urethra itself. The area where the urethra joins the bladder is the bladder neck. The bladder neck, composed of the second set of muscles known as the internal sphincter, helps urine stay in the bladder. The third set of muscles is the pelvic floor muscles, also referred to as the external sphincter, which surround and support the urethra. + +To urinate, the brain signals the muscular bladder wall to tighten, squeezing urine out of the bladder. At the same time, the brain signals the sphincters to relax. As the sphincters relax, urine exits the bladder through the urethra.",30375 +What are the treatments for congenital contractural arachnodactyly ?,These resources address the diagnosis or management of congenital contractural arachnodactyly: - Gene Review: Gene Review: Congenital Contractural Arachnodactyly - Genetic Testing Registry: Congenital contractural arachnodactyly - MedlinePlus Encyclopedia: Arachnodactyly - MedlinePlus Encyclopedia: Contracture Deformity - MedlinePlus Encyclopedia: Skeletal Limb Abnormalities These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30376 +Do self-esteem and social well-being of children with cochlear implant compared to normal-hearing children?,Children with cochlear implant score equal to or better than their normal-hearing peers on matters of self-esteem and social well-being.,30377 +Does the mammalian circadian clock in the suprachiasmatic nucleus exhibit rapid tolerance to ethanol in vivo and in vitro?,"The SCN circadian clock develops rapid tolerance to EtOH as assessed both in vivo and in vitro, and the tolerance lasts for several days. These data demonstrate the utility of the circadian system as a model for investigating cellular mechanisms through which EtOH acts in the brain.",30378 +What are the symptoms of McDonough syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for McDonough syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Aplasia/Hypoplasia of the abdominal wall musculature 90% Cognitive impairment 90% Dental malocclusion 90% Kyphosis 90% Macrotia 90% Prominent supraorbital ridges 90% Scoliosis 90% Short stature 90% Strabismus 90% Synophrys 90% Abnormality of the palate 50% Blepharophimosis 50% Cryptorchidism 50% Decreased body weight 50% Hypertelorism 50% Low-set, posteriorly rotated ears 50% Mandibular prognathia 50% Pectus excavatum 50% Ptosis 50% Short philtrum 50% Single transverse palmar crease 50% Underdeveloped nasal alae 50% Abnormal facial shape - Aortic valve stenosis - Atria septal defect - Autosomal recessive inheritance - Clinodactyly - Diastasis recti - Hypoplastic toenails - Intellectual disability - Kyphoscoliosis - Pectus carinatum - Prominent nose - Pulmonic stenosis - Radial deviation of finger - Sparse hair - Upslanted palpebral fissure - Ventricular septal defect - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30379 +What are the symptoms of Ruvalcaba syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Ruvalcaba syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the metacarpal bones 90% Abnormality of the teeth 90% Brachydactyly syndrome 90% Cognitive impairment 90% Cone-shaped epiphysis 90% Convex nasal ridge 90% Kyphosis 90% Microcephaly 90% Micromelia 90% Narrow mouth 90% Proximal placement of thumb 90% Ptosis 90% Short nose 90% Short palm 90% Synostosis of carpal bones 90% Thin vermilion border 90% Abnormality of the elbow 50% Abnormality of vertebral epiphysis morphology 50% Cryptorchidism 50% High forehead 50% Intrauterine growth retardation 50% Narrow chest 50% Pectus carinatum 50% Scoliosis 50% Abnormal electroretinogram 7.5% Abnormal localization of kidney 7.5% Abnormality of visual evoked potentials 7.5% Clinodactyly of the 5th finger 7.5% Hematuria 7.5% Hernia of the abdominal wall 7.5% Hypertrichosis 7.5% Hypopigmented skin patches 7.5% Seizures 7.5% Abnormality of the breast - Autosomal dominant inheritance - Delayed puberty - Dental crowding - Inguinal hernia - Intellectual disability - Limited elbow extension - Narrow nose - Retinal dystrophy - Short foot - Short metacarpal - Short metatarsal - Short phalanx of finger - Short stature - Small hand - Underdeveloped nasal alae - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30380 +Are cagA and VacA immunoblot markers of past Helicobacter pylori infection in atrophic body gastritis?,"Immunoblotting against CagA and VacA is able to prove past exposure to H. pylori infection in all patients with ABG defined as H. pylori-negative by conventional methods, suggesting a hidden role of H. pylori infection in gastric atrophy also in these patients.",30381 +What is (are) Bleeding ?,"Bleeding is the loss of blood. It can happen inside or outside the body. Bleeding can be a reaction to a cut or other wound. It can also result from an injury to internal organs. There are many situations in which you might bleed. A bruise is bleeding under the skin. Some strokes are caused by bleeding in the brain. Other bleeding, such as gastrointestinal bleeding, coughing up blood, or vaginal bleeding, can be a symptom of a disease. Normally, when you bleed, your blood forms clots to stop the bleeding. Severe bleeding may require first aid or a trip to the emergency room. If you have a bleeding disorder, your blood does not form clots normally.",30382 +Is deoxyguanosine kinase deficiency inherited ?,"Deoxyguanosine kinase deficiency is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In most cases, the parents of an individual with this condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.",30383 +What is (are) High Blood Pressure ?,"Blood pressure rises as body weight increases. Losing even 10 pounds can lower blood pressure -- and it has the greatest effect for those who are overweight and already have hypertension. If you are overweight or obese, work with your health care provider to develop a plan to help you lower your weight and maintain a healthy weight. Aim to reduce your weight by 7 to 10 percent over six months, which can lower your risk for health problems. For example, if you are overweight at 200 pounds, try to lose 14 to 20 pounds over six months. After that, you may have to continue to lose weight to get to a healthy weight.",30384 +Are effective antitumoral immune responses induced by cytosine deaminase suicide gene transfer in a syngeneic rat pancreatic carcinoma model?,"Albeit the present study failed to induce protective antitumor immunity, the initial finding of reduced tumor growth argues for the development of multimodal therapeutic options to overcome negative impacts of advanced malignant disease or chemotherapy-related anergy and immunosuppression.",30385 +Is 6-Thioguanine inhibition of parathyroid hormone-related protein expression mediated by GLI2?,"Taken together, these data indicate that 6-TG regulates PTHrP in part through GLI2 transcription, and therefore the clinical use of 6-TG or other guanosine nucleotides may be a viable therapeutic option in tumor types expressing elevated levels of GLI proteins.",30386 +Does recombinant human bone morphogenetic protein-2 in absorbable collagen sponge enhance bone healing of tibial osteotomies in dogs?,rhBMP-2 in ACS at a concentration of 0.2 mg/mL improves healing of tibial osteotomies in dogs compared with untreated controls and 0.05 mg/mL rhBMP-2 based on force plate analysis and radiographic evaluation. This was not confirmed histologically but treated bones had improved mechanical properties at 8 weeks.,30387 +What are the symptoms of X-linked thrombocytopenia ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked thrombocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the musculature - Bruising susceptibility - Congenital thrombocytopenia - Decreased mean platelet volume - Eczema - Epistaxis - Increased IgA level - Increased IgE level - Intermittent thrombocytopenia - Joint hemorrhage - Petechiae - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30388 +How many people are affected by Camurati-Engelmann disease ?,The prevalence of Camurati-Engelmann disease is unknown. Approximately 200 cases have been reported worldwide.,30389 +What are the genetic changes related to keratoderma with woolly hair ?,"Mutations in the JUP, DSP, DSC2, and KANK2 genes cause keratoderma with woolly hair types I through IV, respectively. The JUP, DSP, and DSC2 genes provide instructions for making components of specialized cell structures called desmosomes. Desmosomes are located in the membrane surrounding certain cells, including skin and heart muscle cells. Desmosomes help attach cells to one another, which provides strength and stability to tissues. They also play a role in signaling between cells. Mutations in the JUP, DSP, or DSC2 gene alter the structure and impair the function of desmosomes. Abnormal or missing desmosomes prevent cells from sticking to one another effectively, which likely makes the hair, skin, and heart muscle more fragile. Over time, as these tissues are exposed to mechanical stress (for example, friction on the surface of the skin or the constant contraction and relaxation of the heart muscle), they become damaged and can no longer function normally. This mechanism probably underlies the skin, hair, and heart problems that occur in keratoderma with woolly hair. Some studies suggest that abnormal cell signaling may also contribute to cardiomyopathy in people with this group of conditions. Unlike the other genes associated with keratoderma with woolly hair, the KANK2 gene provides instructions for making a protein that is not part of desmosomes. Instead, it regulates other proteins called steroid receptor coactivators (SRCs), whose function is to help turn on (activate) certain genes. SRCs play important roles in tissues throughout the body, including the skin. Studies suggest that mutations in the KANK2 gene disrupt the regulation of SRCs, which leads to abnormal gene activity. However, it is unclear how these changes underlie the skin and hair abnormalities in keratoderma with woolly hair type IV.",30390 +Does l-arginine preferentially dilate stenotic segments of coronary arteries thereby increasing coronary flow?,The increase in poststenotic CBF without affecting nondiseased arteries highlights the therapeutic potential of l-arg in patients with CAD.,30391 +"Are english language proficiency , health literacy , and trust in physician associated with shared decision making in rheumatoid arthritis?","This study of over 500 adults with RA from 2 demographically distinct cohorts found that nearly one-third of subjects report suboptimal SDM communication with their clinicians, regardless of cohort. Lower trust in physician was independently associated with suboptimal SDM communication in both cohorts, as was limited English language proficiency and older age in the UCSF RA Cohort and limited health literacy in the RA Panel Cohort. These findings underscore the need to examine the influence of SDM on health outcomes in RA.",30392 +How to diagnose Hypomyelination with atrophy of basal ganglia and cerebellum ?,"Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is diagnosed by a magnetic resonance imaging (MRI) scan of the brain. When the following three features are identified in the brain of an affected individuals, the diagnosis of H-ABC can be made: Decreased myelin (hypomyelination) in the brain. Myelin usually forms a protective covering around brain cells. In H-ABC, this covering is thinner than usual which makes it difficult for nerve cells to work properly. Breakdown (atrophy) of the basal ganglia, a part of the brain that directs and controls movement. Atrophy of the cerebellum, another part of the brain that controls movement.",30393 +Do long-acting somatostatin analogues decrease blood transfusion requirements in patients with refractory gastrointestinal bleeding associated with angiodysplasia?,Long-acting somatostatin analogues treatment decreased transfusion needs in patients with refractory bleeding from gastrointestinal angiodysplasias. Bleeding episodes were limited and haemoglobin improved during treatment. Long-acting somatostatin analogues may represent an option for the management of patients with chronic bleeding due to gastrointestinal angiodysplasias.,30394 +What are the symptoms of Stargardt disease ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Stargardt disease. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bull's eye maculopathy 15/15 Autosomal recessive inheritance - Macular degeneration - Retinitis pigmentosa inversa - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30395 +What are the genetic changes related to Ellis-van Creveld syndrome ?,"Ellis-van Creveld syndrome can be caused by mutations in the EVC or EVC2 gene. Little is known about the function of these genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from the EVC and EVC2 genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body. The mutations that cause Ellis-van Creveld syndrome result in the production of an abnormally small, nonfunctional version of the EVC or EVC2 protein. It is unclear how the defective proteins lead to the specific signs and symptoms of this condition. Studies suggest that they prevent normal Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the bones, teeth, and other parts of the body. Together, mutations in the EVC and EVC2 genes account for more than half of all cases of Ellis-van Creveld syndrome. The cause of the remaining cases is unknown.",30396 +What is the outlook for Autism ?,"For many children, autism symptoms improve with treatment and with age. Some children with autism grow up to lead normal or near-normal lives. Children whose language skills regress early in life, usually before the age of 3, appear to be at risk of developing epilepsy or seizure-like brain activity. During adolescence, some children with autism may become depressed or experience behavioral problems. Parents of these children should be ready to adjust treatment for their child as needed. People with an ASD usually continue to need services and support as they get older but many are able to work successfully and live independently or within a supportive environment.",30397 +What is the outlook for Machado-Joseph Disease ?,"Most individuals with Lyme disease respond well to antibiotics and have full recovery. In a small percentage of individuals, symptoms may continue or recur, requiring additional antibiotic treatment. Varying degrees of permanent joint or nervous system damage may develop in individuals with late-stage Lyme disease.",30398 +What are the treatments for ovarian cancer ?,These resources address the diagnosis or management of ovarian cancer: - Dana-Farber Cancer Institute - Familial Ovarian Cancer Registry - Fred Hutchinson Cancer Research Center - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer - Genetic Testing Registry: Hereditary breast and ovarian cancer syndrome - Genetic Testing Registry: Ovarian cancer - Genomics Education Programme (UK): Hereditary Breast and Ovarian Cancer - M.D. Anderson Cancer Center - MedlinePlus Encyclopedia: BRCA1 and BRCA2 Gene Testing - MedlinePlus Encyclopedia: CA-125 Blood Test - Memorial Sloan-Kettering Cancer Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30399 +Is Darier disease inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people with no history of the disorder in their family. The linear form of Darier disease is generally not inherited but arises from mutations in the body's cells that occur after conception. These alterations are called somatic mutations.",30400 +How many people are affected by 8p11 myeloproliferative syndrome ?,The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition.,30401 +"Is colorectal cancer screening in high-risk groups increasing , although current smokers fall behind?","The prevalence of CRC screening in high-risk groups is trending upward. Despite this, current smokers have significantly lower odds of CRC screening compared with the general population.",30402 +Does body mass index predict prostate-specific antigen or percent free prostate-specific antigen in men undergoing prostate cancer screening?,"Body mass index does not affect PSA or %fPSA in men without known prostate cancer, who undergo prostate cancer screening. Therefore, PSA or %fPSA-based screening or early detection efforts do not require an adjustment for BMI.",30403 +What is (are) Idiopathic juxtafoveal retinal telangiectasia ?,"Idiopathic juxtafoveal retinal telangiectasia (IJT) refers to a group of eye conditions characterized by dilated or twisting blood vessels (telangiectasia) and defective capillaries (tiny blood vessels) near the fovea in the retina. The fovea has the biggest number of special retinal nerve cells, called cones, which enable sharp, daytime vision. In IJT, the telangiectasias cause fluid or crystal buildup and swelling, impairing reflection of light. This results in progressive vision loss. It may be congenital (present at birth) or can develop during the lifetime (acquired). The different types of IJT are distinguished by their features and treatment options. Laser photocoagulation maybe helpful in treating vision loss for individuals with certain types of IJT.",30404 +Are hyperuricemia and untreated gout poor prognostic markers among those with a recent acute myocardial infarction?,sUA and untreated gout may be independent prognostic markers for poor all-cause and CHD mortality in patients with recent acute MI.,30405 +What is (are) propionic acidemia ?,"Propionic acidemia is an inherited disorder in which the body is unable to process certain parts of proteins and lipids (fats) properly. It is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems. In most cases, the features of propionic acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, loss of appetite, weak muscle tone (hypotonia), and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including heart abnormalities, seizures, coma, and possibly death. Less commonly, the signs and symptoms of propionic acidemia appear during childhood and may come and go over time. Some affected children experience intellectual disability or delayed development. In children with this later-onset form of the condition, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), fever, or infections.",30406 +What are the genetic changes related to alpha-1 antitrypsin deficiency ?,"Mutations in the SERPINA1 gene cause alpha-1 antitrypsin deficiency. This gene provides instructions for making a protein called alpha-1 antitrypsin, which protects the body from a powerful enzyme called neutrophil elastase. Neutrophil elastase is released from white blood cells to fight infection, but it can attack normal tissues (especially the lungs) if not tightly controlled by alpha-1 antitrypsin. Mutations in the SERPINA1 gene can lead to a shortage (deficiency) of alpha-1 antitrypsin or an abnormal form of the protein that cannot control neutrophil elastase. Without enough functional alpha-1 antitrypsin, neutrophil elastase destroys alveoli and causes lung disease. Abnormal alpha-1 antitrypsin can also accumulate in the liver and damage this organ. Environmental factors, such as exposure to tobacco smoke, chemicals, and dust, likely impact the severity of alpha-1 antitrypsin deficiency.",30407 +Does chronic risperidone exposure show any evidence of bone mass deterioration in animal model of schizophrenia?,This study shows that in the PCP rat model of schizophrenia bone mass is reduced. When PCP rats were treated with risperidone bone mass remained unchanged but intriguingly and unexpectedly light microscopic examination of femoral metaphysis showed an increase in thickness of metaphyseal trabeculae. The mechanism of risperidone's action on bone remains to be clarified.,30408 +"Is pulse-wave analysis of optic nerve head circulation significantly correlated with brachial-ankle pulse-wave velocity , carotid intima-media thickness , and age?",Our results confirmed measurements of BOT in the optic nerve head can be a useful method for determinin g whether early atherosclerotic changes are present in the optic nerve head circulation.,30409 +How to prevent Vasculitis ?,"You can't prevent vasculitis. However, treatment can help prevent or delay the complications of vasculitis. + +People who have severe vasculitis are treated with prescription medicines. Rarely, surgery may be done. People who have mild vasculitis may find relief with over-the-counter pain medicines, such as acetaminophen, aspirin, ibuprofen, or naproxen. + +For more information about vasculitis treatments, go to ""How Is Vasculitis Treated?""",30410 +Does comparative genomics for mycobacterial peptidoglycan remodelling enzymes reveal extensive genetic multiplicity?,"PG remodelling enzymes in a range of mycobacterial species are associated with extensive genetic multiplicity, suggesting functional diversification within these families of enzymes to allow organisms to adapt.",30411 +Are circulating miR-499 novel and sensitive biomarker of acute myocardial infarction?,"miR-499 was shown to substantially increase the diagnostic accuracy of CK-MB and cTnI in the diagnosis of AMI, and therefore it may prove to be a useful marker for early diagnosis of AMI.",30412 +Does collaborative assessment and management of suicidality method show effect?,CAMS was assessed to be effective and useful in a real-life clinical context. Further studies in larger patient populations are needed as are studies to determine whether the CAMS method may be applied with equal effect to all patient groups.,30413 +What are the symptoms of Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Muscular atrophy ataxia retinitis pigmentosa and diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of retinal pigmentation 90% Incoordination 90% Myopathy 90% Type II diabetes mellitus 90% Ataxia - Autosomal dominant inheritance - Diabetes mellitus - Rod-cone dystrophy - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30414 +What are the genetic changes related to 7q11.23 duplication syndrome ?,"7q11.23 duplication syndrome results from an extra copy of a region on the long (q) arm of chromosome 7 in each cell. This region is called the Williams-Beuren syndrome critical region (WBSCR) because its deletion causes a different disorder called Williams syndrome, also known as Williams-Beuren syndrome. The region, which is 1.5 to 1.8 million DNA base pairs (Mb) in length, includes 26 to 28 genes. Extra copies of several of the genes in the duplicated region, including the ELN and GTF2I genes, likely contribute to the characteristic features of 7q11.23 duplication syndrome. Researchers suggest that an extra copy of the ELN gene in each cell may be related to the increased risk for aortic dilatation in 7q11.23 duplication syndrome. Studies suggest that an extra copy of the GTF2I gene may be associated with some of the behavioral features of the disorder. However, the specific causes of these features are unclear. Researchers are studying additional genes in the duplicated region, but none have been definitely linked to any of the specific signs or symptoms of 7q11.23 duplication syndrome.",30415 +What causes Kidney Dysplasia ?,"Genetic factors can cause kidney dysplasia. Genes pass information from both parents to the child and determine the childs traits. Sometimes, parents may pass a gene that has changed, or mutated, causing kidney dysplasia. + +Genetic syndromes that affect multiple body systems can also cause kidney dysplasia. A syndrome is a group of symptoms or conditions that may seem unrelated yet are thought to have the same genetic cause. A baby with kidney dysplasia due to a genetic syndrome might also have problems of the digestive tract, nervous system, heart and blood vessels, muscles and skeleton, or other parts of the urinary tract. + +A baby may also develop kidney dysplasia if his or her mother takes certain prescription medications during pregnancy, such as some used to treat seizures and high blood pressure. A mothers use of illegal drugs, such as cocaine, during pregnancy may also cause kidney dysplasia in her unborn child.",30416 +Does downgrading MELD improve the outcomes after liver transplantation in patients with acute-on-chronic hepatitis B liver failure?,Downgrading MELD for liver transplant candidates with MELD score ≥30 was effective in improving patient prognosis. An appropriate ALSS treatment within 48 h prior to LT is potentially beneficial.,30417 +Do lipopolysaccharide and cytokines inhibit rat cardiomyocyte contractility in vitro?,"Prolonged exposure of ARVM to a mixture of LPS and inflammatory cytokines inhibits cell contractility. The effect is mediated by the inhibition of Ca(2+) influx via LTCC, and partially opposed by the inhibition of Na(+)/Ca(2+) exchange. Because both mechanisms are commonly seen in animal models of SIC, we conclude that prolonged challenge with Cytomix-100 of ARVM may represent an accurate in vitro model for SIC.",30418 +Is plasma vascular endothelial growth factor level elevated in patients with multivessel coronary artery disease?,"Unlike established coronary risk factors, the plasma VEGF level may be associated with only severe coronary ischemia such as multiple coronary vessel disease.",30419 +What are the treatments for Paresthesia ?,The appropriate treatment for paresthesia depends on accurate diagnosis of the underlying cause.,30420 +What is (are) Gallstones ?,"Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Gallstone attacks usually happen after you eat. Signs of a gallstone attack may include nausea, vomiting, or pain in the abdomen, back, or just under the right arm. Gallstones are most common among older adults, women, overweight people, Native Americans and Mexican Americans. Gallstones are often found during imaging tests for other health conditions. If you do not have symptoms, you usually do not need treatment. The most common treatment is removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways to reach your small intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",30421 +Is tungstate an effective antidiabetic agent in streptozotocin-induced diabetic rats : a long-term study?,Tungstate could play a helpful part in the long-term treatment of diabetes.,30422 +"Are endogenous Na , K pump ligands differentially regulated during acute NaCl loading of Dahl rats?",NaCl loading of DS causes transient increase in OLC but sustained increases in MBG tissue levels and excretion. We hypothesize that increased MBG production occurs in an attempt to compensate for genetically impaired pressure-natriuresis mechanisms.,30423 +Does clonidine premedication improve metabolic control in type 2 diabetic patients during ophthalmic surgery?,Premedication of type 2 diabetic patients with clonidine 90 min before surgery improves blood glucose control and decreases insulin requirements during ophthalmic surgery.,30424 +Does aPOE4 enhance age-dependent decline in cognitive function by down-regulating an NMDA receptor pathway in EFAD-Tg mice?,"These findings suggest that compared with E2FAD and E3FAD, E4FAD and 5xFAD/APOE-KO mice exhibit enhanced age-induced reductions in cognition and key synaptic proteins via down-regulation of an NMDAR signaling pathway, consistent with an apoE4 loss of function. However, levels of p-CREB and BDNF, signaling factors common to multiple pathways, suggest a gain of toxic function. Publications in this field present contradictory results as to whether APOE4 imparts a loss or gain of function. As with the results reported herein, the overall effect of APOE4 on a given CNS-specific measure will be the product of multiple overlapping mechanisms. Thus, caution remains critical in determining whether APOE gene inactivation or therapies that correct the loss of positive function related to apoE4, are the appropriate therapeutic response.",30425 +Does rhoA inactivation prevent photoreceptor axon retraction in an in vitro model of acute retinal detachment?,"Thus, RhoA and downstream Rho kinase activity constitute part of the mechanism that produces rod axonal retraction in retinal explants. Treatments that manipulate RhoA signaling may promote synaptic stability after retinal detachment.",30426 +What are the treatments for Parasites - Cysticercosis ?,"Some people with cysticercosis do not need to be treated. There are medications available to treat cysticercosis for those who do need treatment. Sometimes surgery may be needed. Your doctor will advise you on which treatment is best for you. + +More on: Resources for Health Professionals: Treatment + +More on: Taeniasis",30427 +Is progressive external ophthalmoplegia inherited ?,"Progressive external ophthalmoplegia can have different inheritance patterns depending on the gene involved. When this condition is caused by mutations in the MT-TL1 gene, it is inherited in a mitochondrial pattern, which is also known as maternal inheritance. This pattern of inheritance applies to genes contained in mtDNA. Because egg cells, but not sperm cells, contribute mitochondria to the developing embryo, children can only inherit disorders resulting from mtDNA mutations from their mother. These disorders can appear in every generation of a family and can affect both males and females, but fathers do not pass traits associated with changes in mtDNA to their children. When the nuclear genes POLG, SLC25A4, or C10orf2 are involved, progressive external ophthalmoplegia is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Certain mutations in the POLG gene can also cause a form of the condition that is inherited in an autosomal recessive pattern, 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. Some mutations in the POLG gene that cause progressive external ophthalmoplegia occur during a person's lifetime and are not inherited. These genetic changes are called somatic mutations.",30428 +Is locomotive syndrome associated with body composition and cardiometabolic disorders in elderly Japanese women?,"These findings suggest that BMI may be a useful screening tool for LS. Furthermore, because hypertension and diabetes were associated with LS, the prevention of these disorders accompanied by weight management may help protect against LS.",30429 +What is (are) Aortic Aneurysm ?,"An aneurysm is a bulge or ""ballooning"" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death. Most aneurysms are in the aorta, the main artery that runs from the heart through the chest and abdomen. There are two types of aortic aneurysm: - Thoracic aortic aneurysms - these occur in the part of the aorta running through the chest - Abdominal aortic aneurysms - these occur in the part of the aorta running through the abdomen Most aneurysms are found during tests done for other reasons. Some people are at high risk for aneurysms. It is important for them to get screening, because aneurysms can develop and become large before causing any symptoms Screening is recommended for people between the ages of 65 and 75 if they have a family history, or if they are men who have smoked. Doctors use imaging tests to find aneurysms. Medicines and surgery are the two main treatments. NIH: National Heart, Lung, and Blood Institute",30430 +Do auditory and speech performance in deaf children with deaf parents after cochlear implant?,"CDP can develop similarly to CNH in auditory perception and speech production, if an additional caregiver with normal hearing provides sufficient support and speech input. In addition, using sign language in addition to oral language might not be harmful, and these children can be a communication bridge between their deaf parents and society.",30431 +Does a stratified transcriptomics analysis of polygenic fat and lean mouse adipose tissues identify novel candidate obesity genes?,A focussed candidate gene enrichment strategy in the unique F and L model has identified novel adipose tissue-enriched genes contributing to obesity.,30432 +What is (are) trichothiodystrophy ?,"Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength. The signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood. Mothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most affected children have short stature compared to others their age. Intellectual disability and delayed development are common, although most affected individuals are highly social with an outgoing and engaging personality. Some have brain abnormalities that can be seen with imaging tests. Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities. About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat.",30433 +What are the symptoms of Brachyolmia type 3 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Brachyolmia type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Kyphosis 90% Platyspondyly 90% Scoliosis 90% Short stature 90% Short thorax 90% Abnormality of the metaphyses 7.5% Autosomal dominant inheritance - Barrel-shaped chest - Childhood-onset short-trunk short stature - Clinodactyly - Hypermetropia - Proximal femoral metaphyseal irregularity - Radial deviation of finger - Short femoral neck - Short neck - Spinal cord compression - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30434 +Do bioactive antioxidant mixtures promote proliferation and migration on human oral fibroblasts?,"High and low concentrations (10(-3)-10(-5)M) of these AOs (RFT, PFR) may have beneficial effects on functional mechanisms regulating fibroblast migration and proliferation during gingival healing or periodontal repair.",30435 +Does a high-cholesterol diet exacerbate liver fibrosis in mice via accumulation of free cholesterol in hepatic stellate cells?,"Dietary cholesterol aggravates liver fibrosis because free cholesterol accumulates in HSCs, leading to increased TLR4 signaling, down-regulation of bone morphogenetic protein and activin membrane-bound inhibitor, and sensitization of HSC to TGFβ. This pathway might be targeted by antifibrotic therapies.",30436 +What to do for Diverticular Disease ?,"The Dietary Guidelines for Americans, 2010, recommends a dietary fiber intake of 14 grams per 1,000 calories consumed. For instance, for a 2,000-calorie diet, the fiber recommendation is 28 grams per day. The amount of fiber in a food is listed on the foods nutrition facts label. Some of the best sources of fiber include fruits; vegetables, particularly starchy ones; and whole grains. A health care provider or dietitian can help a person learn how to add more high-fiber foods into the diet. + +Fiber-rich Foods Beans, cereals, and breads Amount of fiber 1/2 cup of navy beans 9.5 grams 1/2 cup of kidney beans 8.2 grams 1/2 cup of black beans 7.5 grams Whole-grain cereal, cold 1/2 cup of All-Bran 9.6 grams 3/4 cup of Total 2.4 grams 3/4 cup of Post Bran Flakes 5.3 grams 1 packet of whole-grain cereal, hot (oatmeal, Wheatena) 3.0 grams 1 whole-wheat English muffin 4.4 grams Fruits 1 medium apple, with skin 3.3 grams 1 medium pear, with skin 4.3 grams 1/2 cup of raspberries 4.0 grams 1/2 cup of stewed prunes 3.8 grams Vegetables 1/2 cup of winter squash 2.9 grams 1 medium sweet potato, with skin 4.8 grams 1/2 cup of green peas 4.4 grams 1 medium potato, with skin 3.8 grams 1/2 cup of mixed vegetables 4.0 grams 1 cup of cauliflower 2.5 grams 1/2 cup of spinach 3.5 grams 1/2 cup of turnip greens 2.5 grams + +Scientists now believe that people with diverticular disease do not need to eliminate certain foods from their diet. In the past, health care providers recommended that people with diverticular disease avoid nuts, popcorn, and sunflower, pumpkin, caraway, and sesame seeds because they thought food particles could enter, block, or irritate the diverticula. However, recent data suggest that these foods are not harmful.5 The seeds in tomatoes, zucchini, cucumbers, strawberries, and raspberries, as well as poppy seeds, are also fine to eat. Nonetheless, people with diverticular disease may differ in the amounts and types of foods that worsen their symptoms.",30437 +Is diabetes-specific quality of life but not health status independently associated with glycaemic control among patients with type 2 diabetes : a cross-sectional analysis of the ADDITION-Europe trial cohort?,"Diabetes-specific QoL but not health status was independently associated with HbA1c. Practitioners should take account of the complex relationship between diabetes-specific QoL and glucose, particularly with regard to dietary behaviour. Future research should attempt to elucidate via which pathways this association might act.",30438 +Do trainee surgeons cause more conversions in laparoscopic colorectal surgery if they are well supervised?,Inexperienced surgeons do not cause more conversions or postoperative morbidity in laparoscopic colorectal surgery if they are well supervised. Conversion is not independently associated with increased postoperative morbidity.,30439 +What are the symptoms of Ewing Sarcoma ?,"Signs and symptoms of Ewing sarcoma include swelling and pain near the tumor. These and other signs and symptoms may be caused by Ewing sarcoma or by other conditions. Check with your childs doctor if your child has any of the following: - Pain and/or swelling, usually in the arms, legs, chest, back, or pelvis. - A lump (which may feel soft and warm) in the arms, legs, chest, or pelvis. - Fever for no known reason. - A bone that breaks for no known reason.",30440 +Do differences in lipoprotein lipid concentration and composition modify the plasma distribution of cyclosporine?,These findings suggest that changes in the total and plasma LP lipid concentration and composition influence the LP binding of CSA and may explain differences in the pharmacological activity and toxicity of CSA when administered to patients with different lipid profiles.,30441 +Does primary congenital glaucoma localize to chromosome 14q24.2-24.3 in two consanguineous Pakistani families?,Linkage analysis localizes autosomal recessive primary congenital glaucoma to chromosome 14q24.2-24.3 in consanguineous Pakistani families.,30442 +Does fAK mediate the activation of cardiac fibroblasts induced by mechanical stress through regulation of the mTOR complex?,"These findings demonstrate a critical role for the mTOR complex, downstream from FAK, in mediating the activation of cardiac fibroblasts in response to mechanical stress.",30443 +What are the symptoms of Dyschromatosis universalis hereditaria ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Dyschromatosis universalis hereditaria. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Hyperpigmented/hypopigmented macules - Infantile onset - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30444 +Do you have information about Prostate Cancer Screening,"Summary : The prostate is the gland below a man's bladder that produces fluid for semen. Cancer screening is looking for cancer before you have any symptoms. Cancer found early may be easier to treat. There is no standard screening test for prostate cancer. Researchers are studying different tests to find those with the fewest risks and most benefits. One test is the digital rectal exam (DRE). The doctor or nurse inserts a lubricated, gloved finger into your rectum to feel the prostate for lumps or anything unusual. Another test is the prostate-specific antigen (PSA) blood test. Your PSA level may be high if you have prostate cancer. It can also be high if you have an enlarged prostate (BPH) or other prostate problems. If your screening results are abnormal, your doctor may do more tests, such as an ultrasound, MRI, or a biopsy. Prostate cancer screening has risks: - Finding prostate cancer may not improve your health or help you live longer - The results can sometimes be wrong - Follow-up tests, such as a biopsy, may have complications You and your doctor should discuss your risk for prostate cancer, the pros and cons of the screening tests, and whether you should get them.",30445 +What are the treatments for Noonan syndrome ?,These resources address the diagnosis or management of Noonan syndrome: - Gene Review: Gene Review: Noonan Syndrome - Genetic Testing Registry: Noonan syndrome - Genetic Testing Registry: Noonan syndrome 1 - Genetic Testing Registry: Noonan syndrome 2 - Genetic Testing Registry: Noonan syndrome 3 - Genetic Testing Registry: Noonan syndrome 4 - Genetic Testing Registry: Noonan syndrome 5 - Genetic Testing Registry: Noonan syndrome 6 - Genetic Testing Registry: Noonan syndrome 7 - MedlinePlus Encyclopedia: Noonan Syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30446 +Does concurrent use of complementary and alternative medicine with antiretroviral therapy reduce adherence to HIV medications?,Use of CAM could lower adherence to antiretroviral therapy. There is need to develop protocol which could help in monitoring CAM use in HIV patients especially those from rural settings.,30447 +What is (are) Cap myopathy ?,"Cap myopathy is a disorder that primarily affects skeletal muscles, the muscles that the body uses for movement. People with cap myopathy have muscle weakness (myopathy) and poor muscle tone (hypotonia) throughout the body, but they are most severely affected in the muscles of the face, neck, and limbs. The muscle weakness, which begins at birth or during childhood, can worsen over time. The name cap myopathy comes from characteristic abnormal cap-like structures that can be seen in muscle cells when muscle tissue is viewed under a microscope. The severity of cap myopathy is related to the percentage of muscle cells that have these caps. Individuals in whom 70 to 75 percent of muscle cells have caps typically have severe breathing problems and may not survive childhood, while those in whom 10 to 30 percent of muscle cells have caps have milder symptoms and can live into adulthood. Cap myopathy can be caused by mutations in the in the ACTA1, TPM2, or TPM3 genes. This condition follows an autosomal dominant manner of inheritance, however, most cases are not inherited; they result from new mutations in the gene and occur in people with no history of the disorder in their family.",30448 +What are the treatments for SOX2 anophthalmia syndrome ?,These resources address the diagnosis or management of SOX2 anophthalmia syndrome: - Gene Review: Gene Review: SOX2-Related Eye Disorders - Genetic Testing Registry: Microphthalmia syndromic 3 - MedlinePlus Encyclopedia: Vision Problems These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30449 +Is gut injury and gut-induced lung injury after trauma hemorrhagic shock gender and estrus cycle specific in the rat?,Gender and estrus cycle stage influence susceptibility to T/HS-induced gut and lung injury. This difference in susceptibility to organ injury was associated with increased plasma nitric oxide levels and increased ileal iNOS activity.,30450 +What is (are) Acute Bronchitis ?,"Bronchitis is an inflammation of the bronchial tubes, the airways that carry air to your lungs. It causes a cough that often brings up mucus. It can also cause shortness of breath, wheezing, a low fever, and chest tightness. There are two main types of bronchitis: acute and chronic. Most cases of acute bronchitis get better within several days. But your cough can last for several weeks after the infection is gone. The same viruses that cause colds and the flu often cause acute bronchitis. These viruses spread through the air when people cough, or though physical contact (for example, on unwashed hands). Being exposed to tobacco smoke, air pollution, dusts, vapors, and fumes can also cause acute bronchitis. Less often, bacteria can also cause acute bronchitis. To diagnose acute bronchitis, your health care provider will ask about your symptoms and listen to your breathing. You may also have other tests. Treatments include rest, fluids, and aspirin (for adults) or acetaminophen to treat fever. A humidifier or steam can also help. You may need inhaled medicine to open your airways if you are wheezing. Antibiotics won't help if the cause is viral. You may get antibiotics if the cause is bacterial. NIH: National Heart, Lung, and Blood Institute",30451 +Are levels of three distinct p75 neurotrophin receptor forms found in human plasma altered in type 2 diabetic patients?,Levels of the ECD of p75NTR are reduced and levels of the ICD are increased in the plasma of type 2 diabetic patients. None of the p75NTR subunits identified in human plasma seem to be a marker of peripheral or autonomic neuronal function in patients with type 2 diabetes.,30452 +What is (are) Turner Syndrome ?,"Turner syndrome is a genetic disorder that affects a girl's development. The cause is a missing or incomplete X chromosome. Girls who have it are short, and their ovaries don't work properly. Other physical features typical of Turner syndrome are - Short, ""webbed"" neck with folds of skin from tops of shoulders to sides of neck - Low hairline in the back - Low-set ears - Swollen hands and feet Most women with Turner syndrome are infertile. They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. Doctors diagnose Turner syndrome based on symptoms and a genetic test. Sometimes it is found in prenatal testing. There is no cure for Turner syndrome, but there are some treatments for the symptoms. Growth hormone often helps girls reach heights that are close to average. Hormone replacement can help start sexual development. Assisted reproduction techniques can help some women with Turner syndrome get pregnant. NIH: National Institute of Child Health and Human Development",30453 +Does anti-inflammatory and anti-hyperalgesic activities of Acanthopanax trifoliatus ( L ) Merr leave?,Methanol fraction of Acanthopanax trifoliatus leaves has potential effect as anti-inflammatory and anti-hyperalgesia in acute inflammation model.,30454 +What are the treatments for Chronic Pain ?,"Medications, acupuncture, local electrical stimulation, and brain stimulation, as well as surgery, are some treatments for chronic pain. Some physicians use placebos, which in some cases has resulted in a lessening or elimination of pain. Psychotherapy, relaxation and medication therapies, biofeedback, and behavior modification may also be employed to treat chronic pain.",30455 +What is (are) vitelliform macular dystrophy ?,"Vitelliform macular dystrophy is a genetic eye disorder that can cause progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, vitelliform macular dystrophy disrupts cells in a small area near the center of the retina called the macula. The macula is responsible for sharp central vision, which is needed for detailed tasks such as reading, driving, and recognizing faces. Vitelliform macular dystrophy causes a fatty yellow pigment (lipofuscin) to build up in cells underlying the macula. Over time, the abnormal accumulation of this substance can damage cells that are critical for clear central vision. As a result, people with this disorder often lose their central vision, and their eyesight may become blurry or distorted. Vitelliform macular dystrophy typically does not affect side (peripheral) vision or the ability to see at night. Researchers have described two forms of vitelliform macular dystrophy with similar features. The early-onset form (known as Best disease) usually appears in childhood; the onset of symptoms and the severity of vision loss vary widely. The adult-onset form begins later, usually in mid-adulthood, and tends to cause vision loss that worsens slowly over time. The two forms of vitelliform macular dystrophy each have characteristic changes in the macula that can be detected during an eye examination.",30456 +Does error-related brain activity dissociate hoarding disorder from obsessive-compulsive disorder?,"The reduced ERN in HD relative to OCD and HC provides evidence that HD is neurobiologically distinct from OCD, and suggests that deficient error monitoring may be a core pathophysiological feature of HD. This effect was particularly prominent in younger HD participants, further suggesting that deficient error monitoring manifests most strongly early in the illness course and/or in individuals with a relatively early illness onset.",30457 +What are the treatments for Dry Eye ?,"Self Care - Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. - Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with chemicals that cause blood vessels to constrict. - Wearing glasses or sunglasses that fit close to the face (wrap around shades) or that have side shields can help slow tear evaporation from the eye surfaces. - Indoors, an air cleaner to filter dust and other particles can help your eyes feel more comfortable. A humidifier also may help by adding moisture to the air. - Avoid dry conditions. - Allow your eyes to rest when doing activities that require you to use your eyes for long periods of time. Use lubricating eye drops while performing these tasks. Try over-the-counter remedies such as artificial tears, gels, gel inserts, and ointments. They offer temporary relief and can provide an important replacement of naturally produced tears. Avoid remedies containing preservatives if you need to apply them more than four times a day or preparations with chemicals that cause blood vessels to constrict. Wearing glasses or sunglasses that fit close to the face (wrap around shades) or that have side shields can help slow tear evaporation from the eye surfaces. Indoors, an air cleaner to filter dust and other particles can help your eyes feel more comfortable. A humidifier also may help by adding moisture to the air. Avoid dry conditions. Allow your eyes to rest when doing activities that require you to use your eyes for long periods of time. Use lubricating eye drops while performing these tasks. If symptoms of dry eye persist, consult an eye care professional to get an accurate diagnosis of the condition and begin treatment to avoid permanent damage. Goal of Treatment Dry eye can be a temporary or ongoing condition, so treatments can be short term or may extend over long periods of time. The goal of treatment is to keep the eyes moist and relieve symptoms. (This short video discusses causes, symptoms, and treatments for dry eye.) Talk to your doctor to rule out other conditions that can cause dry eye, such as Sjgren's syndrome. You may need to treat these conditions. If dry eye results from taking a medication, your doctor may recommend switching to a medication that does not cause dry eye as a side effect. Types of Treatments - Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation. - Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially ones called DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. - Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. - Punctal plugs. Another option to increase the available tears on the eye surface is to plug the small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. - Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed. Medication. Cyclosporine, an anti-inflammatory medication, is a prescription eye drop available to treat certain kinds of dry eye. In people with certain kinds of dry eye, it may decrease damage to the cornea, increase basic tear production, and reduce symptoms of dry eye. It may take three to six months of twice-a-day dosages for the medication to work. Some patients with severe dry eye may need to use corticosteroid eye drops that decrease inflammation. Nutritional Supplements. In some patients with dry eye, supplements of omega-3 fatty acids (especially ones called DHA and EPA) may decrease symptoms of irritation. Talk with your eye care professional or your primary medical doctor about whether this is an option for you. Lenses. If dry eye is a result of wearing contact lens for too long, your eye care practitioner may recommend another type of lens or reducing the number of hours you wear your lenses. In the case of severe dry eye, your eye care professional may advise you not to wear contact lenses at all. Punctal plugs. Another option to increase the available tears on the eye surface is to plug the small circular openings at the inner corners of the eyelids where tears drain from the eye into the nose. Lacrimal plugs, also called punctal plugs, can be inserted painlessly by an eye care professional. These plugs are made of silicone or collagen. These plugs can be temporary or permanent. Punctal cautery. In some cases, a simple surgery called punctal cautery is recommended to permanently close the drainage holes. The procedure works similarly to installing punctal plugs, but cannot be reversed.",30458 +Does exercise training reduce the frequency of menopausal hot flushes by improving thermoregulatory control?,Exercise training that improves cardiorespiratory fitness reduces self-reported hot flushes. Improvements are likely mediated through greater thermoregulatory control in response to increases in core temperature and enhanced vascular function in the cutaneous and cerebral circulations.,30459 +Does vitamin D status and health correlate among German adults?,Vitamin D deficiency is a public health issue in Germany. We identified a number of determinants with potential for primary prevention of vitamin D deficiency. Risk and benefits of preventive actions need to be examined in further studies.,30460 +Is Familial Mediterranean fever inherited ?,"FMF is almost always inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not show signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier. As many as 1 in 5 people of Sephardic (non-Ashkenazi) Jewish, Armenian, Arab and Turkish heritage are carriers for FMF. In rare cases, this condition appears to be inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with FMF inherited in an autosomal dominant manner has a 50% chance with each pregnancy of passing along the altered gene to his or her child. In some cases, FMF may appear to be autosomal dominant when it is actually autosomal recessive. This phenomenon is called pseudodominance. This may happen in families if one parent is an unaffected, unknown carrier (with 1 mutation) and the other parent is affected (with 2 mutations). It may appear that an affected child inherited FMF from only the affected parent, when in fact he/she inherited one mutation from each parent.",30461 +What are the treatments for chorea-acanthocytosis ?,These resources address the diagnosis or management of chorea-acanthocytosis: - Gene Review: Gene Review: Chorea-Acanthocytosis - Genetic Testing Registry: Choreoacanthocytosis These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30462 +Does differential expression of genes in the calcium-signaling pathway underlie lesion development in the LDb mouse model of atherosclerosis?,"Our results suggest that calcium signaling may play an important role in regulation of genes expressed in aorta during development of atherosclerosis. Calcium signaling may act via mechanistic responses to genetic, mechanical, and environmental insults that trigger an imbalance of intracellular calcium homeostasis, resulting in altered biological processes leading to lesion development.",30463 +Do chronotropic Incompetence and Dynamic Postexercise Autonomic Dysfunction Are Associated with the Presence and Severity of Erectile Dysfunction?,"This study shows interrelationships between exercise capacity, HRR, CI, and ED. Abnormal HRR and CI are associated with systemic endothelial dysfunction. These findings imply pathophysiological links and may have important implications for the estimation of cardiovascular risk in ED patients.",30464 +What are the treatments for Moyamoya Disease ?,"There are several types of surgery that can restore blood flow (revascularization) to the brain by opening narrowed blood vessels or by bypassing blocked arteries. Children usually respond better to revascularization surgery than adults, but the majority of individuals have no further strokes or related problems after surgery.",30465 +Does molecular Analysis of a Case of Thanatophoric Dysplasia reveal Two de novo FGFR3 Missense Mutations located in cis?,"This is the second description of a case of TD occurring as a result of double missense FGFR3 gene mutations, suggesting that the spectrum of mutations involved in the pathogenesis of TD may be broader than previously recognised.",30466 +Does perioperative recombinant human granulocyte colony-stimulating factor ( Filgrastim ) treatment prevent immunoinflammatory dysfunction associated with major surgery?,"These results suggest that Filgrastim treatment reinforces innate immunity, enabling better prevention of infection. Thus, this unique combination of hematopoietic, anti-inflammatory and anti-infectious effects on the innate immune system warrants further study of clinical efficacy and sepsis prophylaxis.",30467 +Is myocardial perfusion imaging a strong predictor of death in women?,SPECT-MPI added significant incremental prognostic information to clinical and left ventricular functional variables while enhancing the ability to classify this Brazilian female population into low- and high-risk categories of all-cause mortality.,30468 +Does pGE2 signal via EP2 receptors evoked by a selective agonist enhance regeneration of injured articular cartilage?,"Selective stimulation of the PGE2 signal through EP2 receptors by a specific agonist promoted regeneration of cartilage tissues with a physiological osteochondral boundary, suggesting the potential usefulness of this small molecule for the treatment of injured articular cartilages.",30469 +What causes Diffuse idiopathic skeletal hyperostosis ?,"The exact underlying cause of diffuse idiopathic skeletal hyperostosis (DISH) is poorly understood. However, several factors have been associated with an increased risk of developing the condition. For example, conditions that disturb cartilage metabolism (such as diabetes mellitus, acromegaly, or certain inherited connective tissue disorders) may lead to DISH. Long-term use of medications called retinoids (such as isotretinoin) can increase the risk for DISH. Age (being older than age 50) and sex (being male) may also play a role.",30470 +What are the genetic changes related to Costello syndrome ?,"Mutations in the HRAS gene cause Costello syndrome. This gene provides instructions for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division. Mutations that cause Costello syndrome lead to the production of an H-Ras protein that is abnormally turned on (active). The overactive protein directs cells to grow and divide constantly, which can lead to the development of cancerous and noncancerous tumors. It is unclear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms probably result from cell overgrowth and abnormal cell division. Some people with signs and symptoms of Costello syndrome do not have an identified mutation in the HRAS gene. These individuals may actually have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. The proteins produced from these genes interact with one another and with the H-Ras protein as part of the same cell growth and division pathway. These interactions help explain why mutations in different genes can cause conditions with overlapping signs and symptoms.",30471 +what research (or clinical trials) is being done for Sydenham Chorea ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to SD in laboratories at the NIH, and support additional research through grants to major medical institutions across the country. Currently, researchers are studying how the interplay of genetic, developmental, and environmental factors could determine a childs vulnerability to SD after a GABHS infection. Other researchers are exploring whether children whose symptoms either begin or get worse following a GABHS infection share a common set of abnormal biomolecular pathways responsible for their similar clinical symptoms.",30472 +What are the symptoms of Glomerulopathy with fibronectin deposits 1 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Glomerulopathy with fibronectin deposits 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Edema of the lower limbs 90% Glomerulopathy 90% Hematuria 90% Hypertension 90% Nephrotic syndrome 90% Proteinuria 90% Renal insufficiency 90% Intracranial hemorrhage 7.5% Autosomal dominant inheritance - Lobular glomerulopathy - Microscopic hematuria - Nephropathy - Slow progression - Stage 5 chronic kidney disease - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30473 +How many people are affected by Turner syndrome ?,"This condition occurs in about 1 in 2,500 newborn girls worldwide, but it is much more common among pregnancies that do not survive to term (miscarriages and stillbirths).",30474 +Does cD73 predict Favorable Prognosis in Patients with Nonmuscle-Invasive Urothelial Bladder Cancer?,"High CD73 immunoreactivity was associated with favorable clinicopathological features. Furthermore, it predicts better outcome in the subgroup of pTa and pT1 tumors and may thus serve as additional tool for the selection of patients with favorable prognosis.",30475 +What are the treatments for neuroferritinopathy ?,These resources address the diagnosis or management of neuroferritinopathy: - Gene Review: Gene Review: Neuroferritinopathy - Genetic Testing Registry: Neuroferritinopathy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30476 +Are surface expression and limited proteolysis of ADAM10 increased by a dominant negative inhibitor of dynamin?,"Surface expression and limited proteolysis of ADAM10 are regulated by dynamin-dependent endocytosis, but are unaffected by activation of signaling pathways that upregulate shedding of ADAM substrates such as APP. Modulation of ADAM10 internalization could affect cellular behavior in two ways: by altering the putative signaling activity of the ADAM10 C-terminal fragment, and by regulating the biological function of ADAM10 substrates such as APP and N-cadherin.",30477 +What are the symptoms of Cataract ?,"Common Symptoms The most common symptoms of a cataract are - cloudy or blurry vision and poor night vision - glare -- headlights, lamps, or sunlight may appear too bright or a halo may appear around lights - double vision or multiple images in one eye - frequent prescription changes in your eyeglasses or contact lenses. cloudy or blurry vision and poor night vision glare -- headlights, lamps, or sunlight may appear too bright or a halo may appear around lights double vision or multiple images in one eye frequent prescription changes in your eyeglasses or contact lenses. Tests for Cataract Cataract is detected through a comprehensive eye exam that includes a visual acuity test, dilated eye exam, and tonometry. Tests for Cataract - The visual acuity test is an eye chart test that measures how well you see at various distances. - In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. Your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of damage and other eye problems. - In tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. The visual acuity test is an eye chart test that measures how well you see at various distances. In the dilated eye exam, drops are placed in your eyes to widen, or dilate, the pupils. Your eye care professional uses a special magnifying lens to examine your retina and optic nerve for signs of damage and other eye problems. In tonometry, an instrument measures the pressure inside the eye. Numbing drops may be applied to your eye for this test. Dealing with Symptoms The symptoms of early cataract may be improved with new eyeglasses, brighter lighting, anti-glare sunglasses, or magnifying lenses. If these measures do not help, surgery is the only effective treatment. Surgery involves removing the cloudy lens and replacing it with an artificial lens.",30478 +What is (are) 3-M syndrome ?,"3-M syndrome is a disorder that causes short stature (dwarfism), unusual facial features, and skeletal abnormalities. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. Individuals with 3-M syndrome grow extremely slowly before birth, and this slow growth continues throughout childhood and adolescence. They have low birth weight and length and remain much smaller than others in their family, growing to an adult height of approximately 120 centimeters to 130 centimeters (4 feet to 4 feet 6 inches). Affected individuals have a normally sized head that looks disproportionately large in comparison with their body. The head may be unusually long and narrow in shape (dolichocephalic). In addition to short stature, people with 3-M syndrome have a triangle-shaped face with a broad, prominent forehead (frontal bossing) and a pointed chin; the middle of the face is less prominent (hypoplastic midface). They may have large ears, full eyebrows, an upturned nose with a fleshy tip, a long area between the nose and mouth (philtrum), a prominent mouth, and full lips. Affected individuals may have a short, broad neck and chest with prominent shoulder blades and square shoulders. They may have abnormal spinal curvature such as a rounded upper back that also curves to the side (kyphoscoliosis) or exaggerated curvature of the lower back (hyperlordosis). People with 3-M syndrome may also have unusual curving of the fingers (clinodactyly), short fifth (pinky) fingers, prominent heels, and loose joints. Other skeletal abnormalities, such as unusually slender long bones in the arms and legs, tall, narrow spinal bones (vertebrae), or slightly delayed bone age may be apparent in x-ray images. 3-M syndrome can also affect other body systems. Males with 3-M syndrome may produce reduced amounts of sex hormones (hypogonadism) and occasionally have the urethra opening on the underside of the penis (hypospadias). People with this condition may be at increased risk of developing bulges in blood vessel walls (aneurysms) in the brain. Intelligence is unaffected by 3-M syndrome, and life expectancy is generally normal. A variant of 3-M syndrome called Yakut short stature syndrome has been identified in an isolated population in Siberia. In addition to having most of the physical features characteristic of 3-M syndrome, people with this form of the disorder are often born with respiratory problems that can be life-threatening in infancy.",30479 +What are the symptoms of Pseudohypoparathyroidism type 1A ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudohypoparathyroidism type 1A. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Basal ganglia calcification - Brachydactyly syndrome - Cataract - Choroid plexus calcification - Cognitive impairment - Delayed eruption of teeth - Depressed nasal bridge - Elevated circulating parathyroid hormone (PTH) level - Full cheeks - Hyperphosphatemia - Hypocalcemic tetany - Hypogonadism - Hypoplasia of dental enamel - Hypothyroidism - Intellectual disability - Low urinary cyclic AMP response to PTH administration - Nystagmus - Obesity - Osteoporosis - Phenotypic variability - Pseudohypoparathyroidism - Round face - Seizures - Short finger - Short metacarpal - Short metatarsal - Short neck - Short stature - Short toe - Thickened calvaria - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30480 +What is (are) arginine:glycine amidinotransferase deficiency ?,"Arginine:glycine amidinotransferase deficiency is an inherited disorder that primarily affects the brain. People with this disorder have mild to moderate intellectual disability and delayed speech development. Some affected individuals develop autistic behaviors that affect communication and social interaction. They may experience seizures, especially when they have a fever. Children with arginine:glycine amidinotransferase deficiency may not gain weight and grow at the expected rate (failure to thrive), and have delayed development of motor skills such as sitting and walking. Affected individuals may also have weak muscle tone and tend to tire easily.",30481 +Does translationally controlled tumor protein induce mitotic defects and chromosome missegregation in hepatocellular carcinoma development?,"Collectively, we reveal a novel molecular pathway (CHD1L/TCTP/Cdc25C/Cdk1), which causes the malignant transformation of hepatocytes with the phenotypes of accelerated mitotic progression and the production of aneuploidy.",30482 +Is over-expression of 60s ribosomal L23a associated with cellular proliferation in SAG resistant clinical isolates of Leishmania donovani?,"This study reports for the first time that the over expression of 60sRL23a in SAG sensitive parasite decreases the sensitivity of the parasite towards SAG, miltefosine and paramomycin. Growth curve of the tranfectants further indicated the proliferative potential of 60sRL23a assisting the parasite survival and reaffirming the extra ribosomal role of 60sRL23a. The study thus indicates towards the role of the protein in lowering and redistributing the drug pressure by increased proliferation of parasites and warrants further longitudinal study to understand the underlying mechanism.",30483 +Does curcumin protect Leydig cells of mice from damage induced by chronic alcohol administration?,This study demonstrates that curcumin exerts efficacious protection against damages caused in the Leydig cells of mice by chronic alcohol ingestion and that the preservation of mitochondrial structure and size in Leydig cells is a specific effect of curcumin.,30484 +What are the genetic changes related to arginase deficiency ?,"Mutations in the ARG1 gene cause arginase deficiency. Arginase deficiency belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occurs in liver cells. This cycle processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys. The ARG1 gene provides instructions for making an enzyme called arginase. This enzyme controls the final step of the urea cycle, which produces urea by removing nitrogen from arginine. In people with arginase deficiency, arginase is damaged or missing, and arginine is not broken down properly. As a result, urea cannot be produced normally, and excess nitrogen accumulates in the blood in the form of ammonia. The accumulation of ammonia and arginine are believed to cause the neurological problems and other signs and symptoms of arginase deficiency.",30485 +Is surgical delay a critical determinant of survival in perforated peptic ulcer?,Limiting surgical delay in patients with PPU seems of paramount importance.,30486 +"Is use of cod liver oil during the first year of life associated with lower risk of childhood-onset type 1 diabetes : a large , population-based , case-control study?","Cod liver oil may reduce the risk of type 1 diabetes, perhaps through the antiinflammatory effects of long-chain n-3 fatty acids.",30487 +What are the genetic changes related to juvenile myoclonic epilepsy ?,"The genetics of juvenile myoclonic epilepsy are complex and not completely understood. Mutations in one of several genes can cause or increase susceptibility to this condition. The most studied of these genes are the GABRA1 gene and the EFHC1 gene, although mutations in at least three other genes have been identified in people with this condition. Many people with juvenile myoclonic epilepsy do not have mutations in any of these genes. Changes in other, unidentified genes are likely involved in this condition. A mutation in the GABRA1 gene has been identified in several members of a large family with juvenile myoclonic epilepsy. The GABRA1 gene provides instructions for making one piece, the alpha-1 (1) subunit, of the GABAA receptor protein. The GABAA receptor acts as a channel that allows negatively charged chlorine atoms (chloride ions) to cross the cell membrane. After infancy, the influx of chloride ions creates an environment in the cell that inhibits signaling between nerve cells (neurons) and prevents the brain from being overloaded with too many signals. Mutations in the GABRA1 gene lead to an altered 1 subunit and a decrease in the number of GABAA receptors available. As a result, the signaling between neurons is not controlled, which can lead to overstimulation of neurons. Researchers believe that the overstimulation of certain neurons in the brain triggers the abnormal brain activity associated with seizures. Mutations in the EFHC1 gene have been associated with juvenile myoclonic epilepsy in a small number of people. The EFHC1 gene provides instructions for making a protein that also plays a role in neuron activity, although its function is not completely understood. The EFHC1 protein is attached to another protein that acts as a calcium channel. This protein allows positively charged calcium ions to cross the cell membrane. The movement of these ions is critical for normal signaling between neurons. The EFHC1 protein is thought to help regulate the balance of calcium ions inside the cell, although the mechanism is unclear. In addition, studies show that the EFHC1 protein may be involved in the self-destruction of cells. EFHC1 gene mutations reduce the function of the EFHC1 protein. Researchers suggest that this reduction causes an increase in the number of neurons and disrupts the calcium balance. Together, these effects may lead to overstimulation of neurons and trigger seizures.",30488 +What is (are) Michels syndrome ?,"Michels syndrome is an extremely rare disorder characterized by the eyelid triad of blepharophimosis (a narrowing of the eye opening), blepharoptosis and epicanthus inversus (an upward fold of the skin of the lower eyelid near the inner corner of the eye), skeletal defects including craniosynostosis, cranial asymmetry, abnormality of the occipital bone (at the base of the skull), and radioulnar synostosis, cleft lip and palate, and mental deficiency. Only 10 cases have been reported in the medical literature. While the underlying cause of this condition remains unknown, it is believed to be transmitted as an autosomal recessive trait. Based on phenotypic overlap and autosomal recessive inheritance, some researchers have suggested that Michels, Malpuech, Carnevale and Mingarelli syndromes represent a spectrum and should be referred to a 3MC syndrome (for Malpuech-Michels-Mingarelli-Carnevale).",30489 +What are the symptoms of Limb-girdle muscular dystrophy type 2H ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2H. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) EMG abnormality 90% Gait disturbance 90% Mask-like facies 90% Myopathy 90% Tall stature 50% Areflexia - Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Centrally nucleated skeletal muscle fibers - Elevated serum creatine phosphokinase - EMG: myopathic abnormalities - Exercise-induced myalgia - Facial palsy - Gowers sign - Hyporeflexia - Increased variability in muscle fiber diameter - Muscular dystrophy - Neck flexor weakness - Pelvic girdle muscle atrophy - Pelvic girdle muscle weakness - Phenotypic variability - Quadriceps muscle weakness - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Slow progression - Waddling gait - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30490 +What is (are) Floating-Harbor syndrome ?,"Floating-Harbor syndrome is a genetic disorder that was named for the first two identified patients who were seen at Boston Floating Hospital and Harbor General Hospital in California. The main characteristics of this syndrome are short stature, delayed bone growth, delay in expressive language, and distinct facial features. The exact cause of Floating-Harbor syndrome is not known. Treatment is symptomatic and supportive.",30491 +Does intracerebroventricular neuropeptide Y increase gastric and pancreatic secretion in the dog?,"ICV NPY increased sham feeding, gastric and pancreatic secretion, insulin levels, and PP in the dogs. NPY's effect on gastric secretion was blocked by vagotomy in a rat model. NPY should be considered a candidate mediator of cephalic phase secretion.",30492 +Are the p110α and p110β isoforms of class I phosphatidylinositol 3-kinase involved in toll-like receptor 5 signaling in epithelial cells?,These data demonstrate that the p110α and β isoforms of class IA PI3K are both required for the proinflammatory response to flagellin.,30493 +Does genetic analysis of local Vietnamese chickens provide evidence of gene flow from wild to domestic populations?,"In the absence of any population structuring within the province, the H'mong chicken, identified from its black phenotype, shared a common gene pool with other chickens from the Ha Giang population. The large number of alleles shared exclusively between Ha Giang chickens and junglefowl, as well as the results of a Bayesian clustering analysis, suggest that gene flow has been taking place from junglefowl to Ha Giang chickens.",30494 +Does verapamil prevent the apoptotic and hemodynamic changes in response to unilateral ureteral obstruction?,"Verapamil significantly prevents impairment in renal function and also prevents the up-regulation of p53, Fas, and PCNA during UUO, demonstrating a marked renoprotective effect of Verapamil treatment in conditions with urinary tract obstruction.",30495 +What is (are) achondroplasia ?,"Achondroplasia is a form of short-limbed dwarfism. The word achondroplasia literally means ""without cartilage formation."" Cartilage is a tough but flexible tissue that makes up much of the skeleton during early development. However, in achondroplasia the problem is not in forming cartilage but in converting it to bone (a process called ossification), particularly in the long bones of the arms and legs. Achondroplasia is similar to another skeletal disorder called hypochondroplasia, but the features of achondroplasia tend to be more severe. 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 an average-size trunk, short arms and legs with particularly short upper arms and thighs, limited range of motion at the elbows, and an enlarged head (macrocephaly) with a prominent forehead. Fingers are typically short and the ring finger and middle finger may diverge, giving the hand a three-pronged (trident) appearance. People with achondroplasia are generally of normal intelligence. Health problems commonly associated with achondroplasia include episodes in which breathing slows or stops for short periods (apnea), obesity, and recurrent ear infections. In childhood, individuals with the condition usually develop a pronounced and permanent sway of the lower back (lordosis) and bowed legs. Some affected people also develop abnormal front-to-back curvature of the spine (kyphosis) and back pain. A potentially serious complication of achondroplasia is spinal stenosis, which is a narrowing of the spinal canal that can pinch (compress) the upper part of the spinal cord. Spinal stenosis is associated with pain, tingling, and weakness in the legs that can cause difficulty with walking. Another uncommon but serious complication of achondroplasia is hydrocephalus, which is a buildup of fluid in the brain in affected children that can lead to increased head size and related brain abnormalities.",30496 +Are admission glycemia and markers of inflammation independent outcome predictors in primary PCI in non-diabetic patients?,"Admission glycemia and inflammatory markers are independent predictors of MACE in the mid-term follow-up in non-diabetic STEMI treated with primary PCI. Further investigations are needed to study the pathogenesis of stress hyperglycaemia, interactions with mechanisms of inflammation and whether early and aggressive treatment with insulin may influence outcome of primary PCI.",30497 +Is the S20G substitution in hIAPP more amyloidogenic and cytotoxic than wild-type hIAPP in mouse islets?,"S20G hIAPP reduces beta cell number and function, thereby possibly explaining the earlier onset of type 2 diabetes in individuals carrying this gene mutation.",30498 +Do infant and toddler oral- and manual-motor skills predict later speech fluency in autism?,"The prominent associations among early oral- and manual-motor skills and later speech fluency bear implications for understanding communication in autism. For instance, these associations challenge the common assumption (made even in diagnostic criteria) that manual modes of communication are available to autistic individuals - if simply they choose to use them. These associations also highlight a potential confound from manual-motor skills when assessing autistic cognition, receptive language, and 'nonverbal' social communication.",30499 +Are cRM1 and chromosomal passenger complex component survivin essential to normal mitosis progress and to preserve keratinocytes from mitotic abnormalities?,"Basal keratinocytes may divide frequently during skin lifespan, and signs of deterioration could appear such as loss of protein factors required for correct mitosis. Our findings suggest that mitotic abnormalities can be prevented by the modulation of CRM1 and survivin. We demonstrated the ability of compound 'IV08.009' to efficiently protect cultured keratinocytes from mitotic abnormalities.",30500 +Does hER2 heterogeneity affect trastuzumab responses and survival in patients with HER2-positive metastatic breast cancer?,"These results suggest that accurate assessment of HER2 status, including HER2 heterogeneity, is important in predicting trastuzumab responses and outcomes in patients with HER2-positive metastatic breast cancer.",30501 +What is (are) Penis Disorders ?,"Problems with the penis can cause pain and affect a man's sexual function and fertility. Penis disorders include - Erectile dysfunction - inability to get or keep an erection - Priapism - a painful erection that does not go away - Peyronie's disease - bending of the penis during an erection due to a hard lump called a plaque - Balanitis - inflammation of the skin covering the head of the penis, most often in men and boys who have not been circumcised - Penile cancer - a rare form of cancer, highly curable when caught early",30502 +How to diagnose Proctitis ?,"To diagnose proctitis, a health care provider will take a complete medical history and do a physical exam. The health care provider will ask the patient about symptoms, current and past medical conditions, family history, and sexual behavior that increases the risk of STD-induced proctitis. The physical exam will include an assessment of the patients vital signs, an abdominal exam, and a rectal exam. + +Based on the patients physical exam, symptoms, and other medical information, the doctor will decide which lab tests and diagnostic tests are needed. Lab tests may include blood tests such as a complete blood count to evaluate for blood loss or infection, stool tests to isolate and identify bacteria that may cause disease, and an STD screening. The doctor also may use one of the following diagnostic tests: + +- Rectal culture. A cotton swab is inserted into the rectum to obtain a sample that can be used in tests that isolate and identify organisms that may cause disease. - Anoscopy. This test allows examination of the anal canal and lower rectum by opening the anus using a special instrument called an anoscope. - Flexible sigmoidoscopy and colonoscopy. These tests are used to help diagnose Crohns disease. The tests are similar, but colonoscopy is used to view the entire colon and rectum, while flexible sigmoidoscopy is used to view just the lower colon and rectum. For both tests, a health care provider will provide written bowel prep instructions to follow at home before the test. The person may be asked to follow a clear liquid diet for 1 to 3 days before the test. A laxative may be required the night before the test. One or more enemas may be required the night before and about 2 hours before the test.",30503 +Does administration of N omega-nitro-L-arginine ameliorate portal-systemic shunting in portal-hypertensive rats?,"The results show that in portal hypertensive rats, NNA reduces portal-systemic shunting without reducing portal pressure, suggesting that NO plays a role in the collateralization of the portal system. In addition, high flow through the portal-collateral bed is probably an important driving force that is independent of portal hypertension for the development of portal-systemic shunting in portal-hypertensive rats.",30504 +What is (are) Hypokalemic periodic paralysis ?,"Hypokalemic periodic paralysis is a condition that causes episodes of extreme muscle weakness typically beginning in childhood or adolescence. Most often, these episodes involve a temporary inability to move muscles in the arms and legs. The duration and frequency of the episodes may vary. Hypokalemic periodic paralysis is caused by mutations in the CACNA1S and SCN4A genes which are inherited in an autosomal dominant fashion. A small percentage of people with the characteristic features of hypokalemic periodic paralysis do not have identified mutations in these genes. In these cases, the cause of the condition is unknown. Paralytic crises can be treated with oral or IV potassium. Other management includes prevention of crises and support of specific symptoms.",30505 +Does dabigatran enhance clot susceptibility to fibrinolysis by mechanisms dependent on and independent of thrombin-activatable fibrinolysis inhibitor?,"Dabigatran, at clinically relevant concentrations, enhances the susceptibility of plasma clots to t-PA-induced lysis by reducing TAFI activation and by altering the clot structure. These mechanisms might contribute to the antithrombotic activity of the drug.",30506 +What are the treatments for Overview of Kidney Disease in Children ?,"Treatment for kidney disease in children depends on the cause of the illness. A child may be referred to a pediatric nephrologista doctor who specializes in treating kidney diseases and kidney failure in childrenfor treatment. + +Children with a kidney disease that is causing high blood pressure may need to take medications to lower their blood pressure. Improving blood pressure can significantly slow the progression of kidney disease. The health care provider may prescribe + +- angiotensin-converting enzyme (ACE) inhibitors, which help relax blood vessels and make it easier for the heart to pump blood - angiotensin receptor blockers (ARBs), which help relax blood vessels and make it easier for the heart to pump blood - diuretics, medications that increase urine output + +Many children require two or more medications to control their blood pressure; other types of blood pressure medications may also be needed. + +As kidney function declines, children may need treatment for anemia and growth failure. Anemia is treated with a hormone called erythropoietin, which stimulates the bone marrow to produce red blood cells. Children with growth failure may need to make dietary changes and take food supplements or growth hormone injections. + +Children with kidney disease that leads to kidney failure must receive treatment to replace the work the kidneys do. The two types of treatment are dialysis and transplantation. More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure in Children. + +Birth Defects + +Children with renal agenesis or renal dysplasia should be monitored for signs of kidney damage. Treatment is not needed unless damage to the kidney occurs. More information is provided in the NIDDK health topic, Solitary Kidney. + +Ectopic kidney does not need to be treated unless it causes a blockage in the urinary tract or damage to the kidney. When a blockage is present, surgery may be needed to correct the position of the kidney for better drainage of urine. If extensive kidney damage has occurred, surgery may be needed to remove the kidney. More information is provided in the NIDDK health topic, Ectopic Kidney. + +Hereditary Diseases + +Children with PKD tend to have frequent urinary tract infections, which are treated with bacteria-fighting medications called antibiotics. PKD cannot be cured, so children with the condition receive treatment to slow the progression of kidney disease and treat the complications of PKD. More information is provided in the NIDDK health topic, Polycystic Kidney Disease. + +Alport syndrome also has no cure. Children with the condition receive treatment to slow disease progression and treat complications until the kidneys fail. More information is provided in the NIDDK health topic, Glomerular Diseases. + +Infection + +Treatment for hemolytic uremic syndrome includes maintaining normal salt and fluid levels in the body to ease symptoms and prevent further problems. A child may need a transfusion of red blood cells delivered through an intravenous (IV) tube. Some children may need dialysis for a short time to take over the work the kidneys usually do. Most children recover completely with no long-term consequences. More information is provided in the NIDDK health topic, Hemolytic Uremic Syndrome in Children. + +Children with post-streptococcal glomerulonephritis may be treated with antibiotics to destroy any bacteria that remain in the body and with medications to control swelling and high blood pressure. They may also need dialysis for a short period of time. More information about post-streptococcal glomerulonephritis is provided in the NIDDK health topic, Glomerular Diseases. + +Nephrotic Syndrome + +Nephrotic syndrome due to minimal change disease can often be successfully treated with corticosteroids. Corticosteroids decrease swelling and reduce the activity of the immune system. The dosage of the medication is decreased over time. Relapses are common; however, they usually respond to treatment. Corticosteroids are less effective in treating nephrotic syndrome due to focal segmental glomerulosclerosis or membranoproliferative glomerulonephritis. Children with these conditions may be given other immunosuppressive medications in addition to corticosteroids. Immunosuppressive medications prevent the body from making antibodies. More information is provided in the NIDDK health topic, Childhood Nephrotic Syndrome. + +Systemic Diseases + +Lupus nephritis is treated with corticosteroids and other immunosuppressive medications. A child with lupus nephritis may also be treated with blood pressure-lowering medications. In many cases, treatment is effective in completely or partially controlling lupus nephritis. More information is provided in the NIDDK health topic, Lupus Nephritis. + +Diabetic kidney disease usually takes many years to develop. Children with diabetes can prevent or slow the progression of diabetic kidney disease by taking medications to control high blood pressure and maintaining normal blood glucose levels. More information is provided in the NIDDK health topic, Kidney Disease of Diabetes. + +Trauma + +The types of trauma described above can be medically treated, though dialysis may be needed for a short time until blood flow and blood pressure return to normal. + +Urine Blockage and Reflux + +Treatment for urine blockage depends on the cause and severity of the blockage. In some cases, the blockage goes away without treatment. For children who continue to have urine blockage, surgery may be needed to remove the obstruction and restore urine flow. After surgery, a small tube, called a stent, may be placed in the ureter or urethra to keep it open temporarily while healing occurs. More information is provided in the NIDDK health topic, Urine Blockage in Newborns. + +Treatment for reflux may include prompt treatment of urinary tract infections and long-term use of antibiotics to prevent infections until reflux goes away on its own. Surgery has also been used in certain cases. More information is provided in the NIDDK health topic, Vesicoureteral Reflux.",30507 +Is cow 's milk protein sensitivity assessed by the mucosal patch technique related to irritable bowel syndrome in patients with primary Sjögren 's syndrome?,"A rectal mucosal inflammatory response after CM challenge is seen in 38% of patients with pSS as a sign of CM sensitivity. IBS-like symptoms were common in pSS, linked to CM sensitivity.",30508 +What are the symptoms of Fanconi like syndrome ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi like syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Multiple bilateral pneumothoraces - Multiple cutaneous malignancies - Osteomyelitis - Pancytopenia - Recurrent lower respiratory tract infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30509 +What is (are) Kidney Failure ?,"Healthy kidneys clean your blood by removing excess fluid, minerals, and wastes. They also make hormones that keep your bones strong and your blood healthy. But if the kidneys are damaged, they don't work properly. Harmful wastes can build up in your body. Your blood pressure may rise. Your body may retain excess fluid and not make enough red blood cells. This is called kidney failure. If your kidneys fail, you need treatment to replace the work they normally do. The treatment options are dialysis or a kidney transplant. Each treatment has benefits and drawbacks. No matter which treatment you choose, you'll need to make some changes in your life, including how you eat and plan your activities. But with the help of healthcare providers, family, and friends, most people with kidney failure can lead full and active lives. NIH: National Institute of Diabetes and Digestive and Kidney Diseases",30510 +Is renal artery calcium independently associated with hypertension?,"The results of this study suggest that the presence of RAC is associated with higher odds for prevalent hypertension, independent of CVD risk factors and the extent of calcified atherosclerosis in the nonrenal vasculature.",30511 +What are the treatments for Dysautonomia ?,"There is usually no cure for dysautonomia. Secondary forms may improve with treatment of the underlying disease. In many cases treatment of primary dysautonomia is symptomatic and supportive. Measures to combat orthostatic hypotension include elevation of the head of the bed, water bolus (rapid infusion of water given intravenously), a high-salt diet, and drugs such as fludrocortisone and midodrine.",30512 +Does insulin-induced hypoglycemia accelerate gastric emptying of solids and liquids in long-standing type 1 diabetes?,"Insulin-induced hypoglycemia accelerates gastric emptying of solids and liquids in long-standing type 1 diabetes, even in those patients with delayed emptying, and is likely to be an important mechanism in the counter-regulation of hypoglycemia.",30513 +Does adrenomedullin worsen skin necrosis in rats subjected to vincristine-induced extravasation?,"In this animal model of vincristine-induced extravasation, antioxidant status and histology were preserved by hyaluronidase but worsened by adrenomedullin.",30514 +What is (are) Inguinal Hernia ?,"The inguinal canal is a passage through the lower abdominal wall. People have two inguinal canalsone on each side of the lower abdomen. In males, the spermatic cords pass through the inguinal canals and connect to the testicles in the scrotumthe sac around the testicles. The spermatic cords contain blood vessels, nerves, and a duct, called the spermatic duct, that carries sperm from the testicles to the penis. In females, the round ligaments, which support the uterus, pass through the inguinal canals.",30515 +What is (are) Leigh's Disease ?,"Leigh's disease is a rare inherited neurometabolic disorder that affects the central nervous system. This progressive disorder begins in infants between the ages of three months and two years.Rarely, it occurs in teenagers and adults.Leigh's disease can be caused by mutations in mitochondrial DNA or by deficiencies of an enzyme called pyruvate dehydrogenase. Symptoms of Leigh's disease usually progress rapidly. The earliest signs may be poor sucking ability,and the loss of head control and motor skills.These symptoms may be accompanied by loss of appetite, vomiting, irritability, continuous crying, and seizures. As the disorder progresses, symptoms may also include generalized weakness, lack of muscle tone, and episodes of lactic acidosis, which can lead to impairment of respiratory and kidney function. + +In Leighs disease, genetic mutations in mitochondrial DNA interfere with the energy sources that run cells in an area of the brain that plays a role in motor movements.The primary function of mitochondria is to convert the energy in glucose and fatty acids into a substance called adenosine triphosphate ( ATP). The energy in ATP drives virtually all of a cell's metabolic functions. Genetic mutations in mitochondrial DNA, therefore, result in a chronic lack of energy in these cells, which in turn affects the central nervous system and causes progressive degeneration of motor functions. + +There is also a form of Leighs disease (called X-linked Leigh's disease) which is the result of mutations in a gene that produces another group of substances that are important for cell metabolism. This gene is only found on the X chromosome.",30516 +What is the outlook for Microcephaly ?,"Some children with microcephaly will have normal intelligence and a head that will grow bigger, but they may track below the normal growth curves for head circumference. Some children may have only mild disability, while those with more severe cases may face significant learning disabilities, cognitive delays, or develop other neurological disorders. Many, if not most, cases if Zika microcephaly will be very severe, possibly requiring lifelong intensive care.",30517 +Does muscular anatomy of an entoproct creeping-type larva reveal extraordinary high complexity and potential shared characters with mollusks?,"Our data add further morphological support for an entoproct-mollusk relationship (Tetraneuralia) and strongly argue for the presence of an enrolling musculature as well as seriality (but not segmentation) in the last common tetraneuralian ancestor. The evolutionary driving forces that have led to the emergence of the extraordinarily complex muscular architecture in this short-lived, non-feeding entoproct larval type remain unknown, as are the processes that give rise to the highly different and much simpler muscular bodyplan of the adult entoproct during metamorphosis.",30518 +What is (are) Antecubital pterygium ?,"Antecubital pterygium is characterized by and antecubital webbing, posterior subluxation (dislocation) of radial head, maldevelopment of radioulnar joint, and limited elbow extension with unimpeded elbow flexion. Most reported cases come from the island of Mauritius or nearby islands. It is inherited in an autosomal dominant fashion. This condition is sometimes found as a symptom of nail-patella syndrome.",30519 +What is (are) white sponge nevus ?,"White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells. White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals.",30520 +What are the genetic changes related to pyruvate kinase deficiency ?,"Pyruvate kinase deficiency is caused by mutations in the PKLR gene. The PKLR gene is active in the liver and in red blood cells, where it provides instructions for making an enzyme called pyruvate kinase. The pyruvate kinase enzyme is involved in a critical energy-producing process known as glycolysis. During glycolysis, the simple sugar glucose is broken down to produce adenosine triphosphate (ATP), the cell's main energy source. PKLR gene mutations result in reduced pyruvate kinase enzyme function, causing a shortage of ATP in red blood cells and increased levels of other molecules produced earlier in the glycolysis process. The abnormal red blood cells are gathered up by the spleen and destroyed, causing hemolytic anemia and an enlarged spleen. A shortage of red blood cells to carry oxygen throughout the body leads to fatigue, pallor, and shortness of breath. Iron and a molecule called bilirubin are released when red blood cells are destroyed, resulting in an excess of these substances circulating in the blood. Excess bilirubin in the blood causes jaundice and increases the risk of developing gallstones. Pyruvate kinase deficiency may also occur as an effect of other blood diseases, such as leukemia. These cases are called secondary pyruvate kinase deficiency and are not inherited.",30521 +Is why Congo red binding specific for amyloid proteins - model studies and a computer analysis approach?,"The need for specific interaction makes single-molecule Congo red binding rather unusual as a general amyloid protein ligand. The structural feature of Congo red, which enables specific and common interaction with amyloid proteins, probably derives from the ribbon-like self-assembled form of the dye.",30522 +What are the genetic changes related to primary carnitine deficiency ?,"Mutations in the SLC22A5 gene cause primary carnitine deficiency. This gene provides instructions for making a protein called OCTN2 that transports carnitine into cells. Cells need carnitine to bring certain types of fats (fatty acids) into mitochondria, which are the energy-producing centers within cells. Fatty acids are a major source of energy for the heart and muscles. During periods of fasting, fatty acids are also an important energy source for the liver and other tissues. Mutations in the SLC22A5 gene result in an absent or dysfunctional OCTN2 protein. As a result, there is a shortage (deficiency) of carnitine within cells. Without carnitine, fatty acids cannot enter mitochondria and be used to make energy. Reduced energy production can lead to some of the features of primary carnitine deficiency, such as muscle weakness and hypoglycemia. Fatty acids may also build up in cells and damage the liver, heart, and muscles. This abnormal buildup causes the other signs and symptoms of the disorder.",30523 +Is Bannayan-Riley-Ruvalcaba syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.",30524 +Does gene transfection of hepatocyte growth factor attenuate the progression of cardiac remodeling in the hypertrophied heart?,"Our results demonstrated that gene transfection of hepatocyte growth factor attenuated left ventricular diastolic dysfunction and cardiac fibrosis in association with a decrease in transforming growth factor-beta1 in the rat heart subjected to pressure overload. Thus, the transfection of the hepatocyte growth factor gene into the hypertrophied heart may be a strategy for the hypertrophied and failing heart even for cardiac surgery.",30525 +What are the symptoms of Turner syndrome ?,"There are various signs and symptoms of Turner syndrome, which can range from very mild to more severe. Short stature is the most common feature and usually becomes apparent by age 5. In early childhood, frequent middle ear infections are common and can lead to hearing loss in some cases. Most affected girls do not produce the necessary sex hormones for puberty, so they don't have a pubertal growth spurt, start their periods or develop breasts without hormone treatment. While most affected women are infertile, pregnancy is possible with egg donation and assisted reproductive technology. Intelligence is usually normal, but developmental delay, learning disabilities, and/or behavioral problems are sometimes present. Additional symptoms of Turner syndrome may include: a wide, webbed neck a low or indistinct hairline in the back of the head swelling (lymphedema) of the hands and feet broad chest and widely spaced nipples arms that turn out slightly at the elbow congenital heart defects or heart murmur scoliosis (curving of the spine) or other skeletal abnormalities kidney problems an underactive thyroid gland a slightly increased risk to develop diabetes, especially if older or overweight osteoporosis due to a lack of estrogen, (usually prevented by hormone replacement therapy). The Human Phenotype Ontology provides the following list of signs and symptoms for Turner syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the aorta 90% Aplasia/Hypoplasia of the nipples 90% Cubitus valgus 90% Enlarged thorax 90% Low posterior hairline 90% Polycystic ovaries 90% Short stature 90% Abnormal dermatoglyphics 50% Abnormal localization of kidney 50% Abnormality of the fingernails 50% Abnormality of the metacarpal bones 50% Hypoplastic toenails 50% Melanocytic nevus 50% Secondary amenorrhea 50% Webbed neck 50% Atria septal defect 7.5% Atypical scarring of skin 7.5% Cognitive impairment 7.5% Cystic hygroma 7.5% Delayed skeletal maturation 7.5% Lymphedema 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30526 +Does agent-based modeling of autophagy reveal emergent regulatory behavior of spatio-temporal autophagy dynamics?,"Agent-based modeling represents a novel approach to investigate autophagy dynamics, function and dysfunction with high biological realism. Our model accurately recapitulates short-term behavior and cell-to-cell variability under basal and activated conditions of autophagy. Further, this approach also allows investigation of long-term behaviors emerging from biologically-relevant alterations to vesicle trafficking and metabolic state.",30527 +Do a Comparison of Two Sterile Solution Application Methods During Surgical Preparation of the Hand?,We identified a larger numbers of UPAs with commercially available applicator sticks compared with a control using sterile GS.,30528 +Is lymphopenia in patients with chronic idiopathic neutropenia associated with decreased number of T-lymphocytes containing T-cell receptor excision circles?,"The aberrant T-cell expansions associated with the pathogenesis of CIN result in increased proliferation/apoptosis and possibly exhaustion of peripheral blood T cells which, in association with the inadequate compensatory thymic export of new TREC expressing T cells partially because of IL-7 deficiency, may contribute to lymphopenia in CIN.",30529 +Does mishandling of the therapeutic peptide glucagon generate cytotoxic amyloidogenic fibrils?,These results indicated that glucagon was self-associated by its beta-sheet-rich intermolecular structure during the aging process under concentrated conditions to induce fibrillar aggregates. Glucagon has the same amyloidogenic propensities as pathologically related peptides such as beta-amyloid (Abeta)1-42 and prion protein fragment (PrP)106-126 including conformational change to a beta-sheet-rich structure and cytotoxic effects by activating caspases. These findings suggest that inappropriate preparation and application of therapeutic glucagon may cause undesirable insoluble products and side effects such as amyloidosis in clinical application.,30530 +Who is at risk for Diabetes? ?,"Here are the risk factors for type 2 diabetes. - being over 45 years of age - being overweight or obese - having a first-degree relative -- a parent, brother, or sister -- with diabetes - being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. (Watch the video to learn more about native Americans and diabetes risk. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) - having gestational diabetes, or giving birth to at least one baby weighing more than 9 pounds - having blood pressure of 140/90 or higher, or having been told that you have high blood pressure. - having abnormal cholesterol levels -- an HDL cholesterol level of 35 or lower, or a triglyceride level of 250 or higher - being inactive or exercising fewer than three times a week. - having polycystic ovary syndrome, also called PCOS (women only) - on previous testing, having prediabetes (an A1C level of 5.7 to 6.4 percent), impaired glucose tolerance (IGT) or impaired fasting glucose (IFG) - history of cardiovascular disease (disease affecting the heart and blood vessels). being over 45 years of age being overweight or obese having a first-degree relative -- a parent, brother, or sister -- with diabetes being African American, American Indian or Alaska Native, Asian American or Pacific Islander, or Hispanic American/Latino. (Watch the video to learn more about native Americans and diabetes risk. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) having gestational diabetes, or giving birth to at least one baby weighing more than 9 pounds having blood pressure of 140/90 or higher, or having been told that you have high blood pressure. having abnormal cholesterol levels -- an HDL cholesterol level of 35 or lower, or a triglyceride level of 250 or higher being inactive or exercising fewer than three times a week. having polycystic ovary syndrome, also called PCOS (women only) on previous testing, having prediabetes (an A1C level of 5.7 to 6.4 percent), impaired glucose tolerance (IGT) or impaired fasting glucose (IFG) history of cardiovascular disease (disease affecting the heart and blood vessels).",30531 +Is serrated adenoma a risk factor for subsequent adenomatous polyps?,"While SA are uncommon, they are commonly associated with colorectal cancer. Serrated adenomas appear to be found more commonly in the left colon and in older patients. This study found a significant association between SA and the subsequent development of adenomatous polyps. Further studies are needed to define appropriate preventive strategies for these patients.",30532 +Is daytime ambulatory systolic blood pressure more effective at predicting mortality than clinic blood pressure?,Daytime ambulatory blood pressure monitoring is a much better prognostic indicator of all-cause mortality than clinic blood pressure.,30533 +What is (are) Thyroid Cancer ?,"Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It makes hormones that help the body work normally. There are several types of cancer of the thyroid gland. You are at greater risk if you - Are between ages 25 and 65 - Are a woman - Are Asian - Have a family member who has had thyroid disease - Have had radiation treatments to your head or neck You should see a doctor if you have a lump or swelling in your neck. Doctors use a physical exam, blood tests, imaging tests, and a biopsy to diagnose thyroid cancer. Treatment depends on the type of cancer you have and how far the cancer has spread. Many patients receive a combination of treatments. They may include surgery, radioactive iodine, hormone treatment, radiation therapy, chemotherapy, or targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. NIH: National Cancer Institute",30534 +Is chlamydia pneumoniae serology associated with thrombosis-related but not with plaque-related microembolization during carotid endarterectomy?,"C pneumoniae serology is associated with microembolization after endarterectomy and restoration of flow. Since these microemboli represent platelet aggregations and are related to cerebrovascular complications, our data suggest that C pneumoniae infection contributes to cerebrovascular events in patients with carotid artery disease through stimulation of thrombosis.",30535 +What is (are) Progressive transformation of germinal centers ?,"Progressive transformation of germinal centers is a condition in which a lymph node becomes very enlarged (lymphadenopathy). Typically, only one lymph node is affected, though PTGC can involve multiple lymph nodes. The neck is the most common location of affected lymph nodes, but PTGC may also affect lymph nodes in the groin and armpits. Adults are more frequently affected than children, but children have a higher chance of developing PTGC multiple times (recurrence). PTGC is not considered a precancerous condition, though it has been associated with Hodgkin lymphoma.",30536 +Is Pyruvate carboxylase deficiency inherited ?,"Pyruvate carboxylase deficiency is inherited in an autosomal recessive manner. This means that both copies of the disease-causing gene in each cell (usually one inherited from each parent) must have a mutation for an individual to be affected. Individuals who carry one mutated copy of the gene are referred to as carriers. Carriers typically do not have any signs or symptoms of the condition. When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be an unaffected carrier like each of the parents, and a 25% risk to not have the condition and not be a carrier (i.e. to inherit both normal genes). In other words, each child born to two carriers has a 75% (3 in 4) chance to be unaffected. De novo mutations (new mutations that occur for the first time in an individual and are not inherited from a parent) have been reported for this condition. This means that in some cases, an affected individual may have only one parent who is a carrier for the condition. Carrier testing for at-risk relatives and prenatal testing for pregnancies at increased risk may be possible through laboratories offering custom mutation analysis if the disease-causing mutations in a family are known. Individuals interested in learning more about genetic risks to themselves or family members, or about genetic testing for this condition, should speak with a genetics professional.",30537 +"Is the cross-sectional shape of the fourfold semitendinosus tendon oval , not round?","The cross-sectional shape of the fourfold ST graft was not round, but oval. Moreover, the rounded rectangular tunnel was more fitted to the graft than the round tunnel.",30538 +Do growth factors improve gene expression after lentiviral transduction in human adult and fetal hepatocytes?,"This has implications for the design of regimes for liver cell gene therapy, allowing marked reduction of MOIs, and reducing both cost and risk of viral-mediated toxicity.",30539 +Does copper deprivation in rats induce islet hyperplasia and hepatic metaplasia in the pancreas?,"These data show that copper deficiency in rats, as well as inducing the appearance of hepatocytes, is capable of causing islet hyperplasia.",30540 +Is the antiepileptic drug topiramate a substrate for human P-glycoprotein but not multidrug resistance proteins?,"Thus, these data indicate that brain levels of topiramate may be affected by overexpression of Pgp as determined in patients with intractable epilepsy.",30541 +Is the small variant of the apoptosis-associated X-chromosome RBM10 gene co-expressed with caspase-3 in breast cancer?,"These results indicate that very few genes are involved in the last steps of the apoptotic cascade in breast cancer, among them one of the X-chromosome RBM family. They also support the relatively unexplored link between apoptosis and angiogenesis.",30542 +Do endothelin receptor antagonists prevent parathyroid cell proliferation caused by hypocalcemia in rats?,The effectiveness of the endothelin receptor antagonists for the prevention of the low calcium diet-induced secondary hyperparathyroidism in rats has been clearly demonstrated. These findings suggest the possibility that endothelin receptor antagonist might become one of the important therapeutic strategies for preventing secondary hyperparathyroidism in humans.,30543 +What is (are) Pleural Disorders ?,"Your pleura is a large, thin sheet of tissue that wraps around the outside of your lungs and lines the inside of your chest cavity. Between the layers of the pleura is a very thin space. Normally it's filled with a small amount of fluid. The fluid helps the two layers of the pleura glide smoothly past each other as your lungs breathe air in and out. Disorders of the pleura include - Pleurisy - inflammation of the pleura that causes sharp pain with breathing - Pleural effusion - excess fluid in the pleural space - Pneumothorax - buildup of air or gas in the pleural space - Hemothorax - buildup of blood in the pleural space Many different conditions can cause pleural problems. Viral infection is the most common cause of pleurisy. The most common cause of pleural effusion is congestive heart failure. Lung diseases, like COPD, tuberculosis, and acute lung injury, cause pneumothorax. Injury to the chest is the most common cause of hemothorax. Treatment focuses on removing fluid, air, or blood from the pleural space, relieving symptoms, and treating the underlying condition. NIH: National Heart, Lung, and Blood Institute",30544 +Is high sucrose intake associated with poor quality of diet and growth between 13 months and 9 years of age : the special Turku Coronary Risk Factor Intervention Project?,"In children aged 13 months to 9 years, long-term low sucrose intake is associated with better nutrient intake and growth than high sucrose intake.",30545 +What is (are) Aarskog-Scott syndrome ?,"Aarskog-Scott syndrome is a genetic disorder that affects the development of many parts of the body. This condition mainly affects males, although females may have mild features of the syndrome. People with Aarskog-Scott syndrome often have distinctive facial features, such as widely spaced eyes (hypertelorism), a small nose, a long area between the nose and mouth (philtrum), and a widow's peak hairline. They frequently have mild to moderate short stature during childhood, but their growth usually catches up during puberty. Hand abnormalities are common in this syndrome and include short fingers (brachydactyly), curved pinky fingers (fifth finger clinodactyly), webbing of the skin between some fingers (syndactyly), and a single crease across the palm. 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). Most males with Aarskog-Scott syndrome have a shawl scrotum, in which the scrotum surrounds the penis. Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia). The intellectual development of people with Aarskog-Scott syndrome varies widely among affected individuals. Some may have mild learning and behavior problems, while others have normal intelligence. In rare cases, severe intellectual disability has been reported.",30546 +What to do for Kidney Failure: What to Expect ?,"For people who are on dialysis or approaching total kidney failure, adequate nutrition is important for maintaining energy, strength, healthy sleep patterns, bone health, heart health, and good mental health. A persons treatment will dictate the type of diet that should be followed: + +- People on hemodialysis must watch how much fluid they drink and avoid eating foods with too much sodium, potassium, and phosphorus. - In contrast, people on peritoneal dialysisa type of dialysis that uses the lining of the abdomen, or belly, to filter the blood inside the bodymay be able to eat more potassium-rich foods because peritoneal dialysis removes potassium from the body more efficiently than hemodialysis. - Both hemodialysis and peritoneal dialysis can remove proteins from the body, so anyone on either form of dialysis should eat protein-rich foods such as meat, fish, and eggs. + +All dialysis centers and transplant clinics have a renal dietitian who specializes in helping people with kidney failure. People who are on dialysis or have a kidney transplant should talk with their clinics renal dietitian to develop a meal plan that will enhance the effectiveness of their treatment. + +For more information about nutrition for people with advanced CKD or who are on dialysis, see NIDDK health topics, Nutrition for Advanced Chronic Kidney Disease in Adults or Kidney Failure: Eat Right to Feel Right on Hemodialysis.",30547 +Does rOCK-phosphorylated vimentin modify mutant huntingtin aggregation via sequestration of IRBIT?,Our results suggest that vimentin represents a novel and additional target for the therapy of polyQ diseases.,30548 +Does routine diagnostic laparoscopy reduce the rate of unnecessary appendicectomies in young women?,"In young females, diagnostic laparoscopy used selectively reduces the rate of negative appendicectomy but not significantly. However, when used routinely, laparoscopy significantly reduces the rate of negative appendicectomy. Diagnostic laparoscopy should be used routinely for all young females presenting with right iliac fossa pain sufficiently severe to warrant surgical exploration.",30549 +What is (are) Chronic Myeloproliferative Neoplasms ?,"Key Points + - Myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many red blood cells, white blood cells, or platelets. - There are 6 types of chronic myeloproliferative neoplasms. - Tests that examine the blood and bone marrow are used to detect (find) and diagnose chronic myeloproliferative neoplasms. + + + Myeloproliferative neoplasms are a group of diseases in which the bone marrow makes too many red blood cells, white blood cells, or platelets. + Normally, the bone marrow makes blood stem cells (immature cells) that become mature blood cells over time. A blood stem cell may become a myeloid stem cell or a lymphoid stem cell. A lymphoid stem cell becomes a white blood cell. A myeloid stem cell becomes one of three types of mature blood cells: - Red blood cells that carry oxygen and other substances to all tissues of the body. - White blood cells that fight infection and disease. - Platelets that form blood clots to stop bleeding. In myeloproliferative neoplasms, too many blood stem cells become one or more types of blood cells. The neoplasms usually get worse slowly as the number of extra blood cells increases. + + + There are 6 types of chronic myeloproliferative neoplasms. + The type of myeloproliferative neoplasm is based on whether too many red blood cells, white blood cells, or platelets are being made. Sometimes the body will make too many of more than one type of blood cell, but usually one type of blood cell is affected more than the others are. Chronic myeloproliferative neoplasms include the following 6 types: - Chronic myelogenous leukemia. - Polycythemia vera. - Primary myelofibrosis (also called chronic idiopathic myelofibrosis). - Essential thrombocythemia. - Chronic neutrophilic leukemia. - Chronic eosinophilic leukemia. These types are described below. Chronic myeloproliferative neoplasms sometimes become acute leukemia, in which too many abnormal white blood cells are made.",30550 +Does rebamipide bound to iNOS-positive cells in acetic acid-treated but not in ethanol-treated rat gastric mucosa?,Autoradiography has made it clear that rebamipide binds to iNOS-positive cells in the gastric mucosa 7 days after acetic acid-treatment.,30551 +Do rhoA/Rho-kinase contribute to the pathogenesis of diabetic renal disease?,"High glucose activates RhoA/Rho-kinase in MCs, leading to downstream AP-1 activation and fibronectin induction. Inhibition of this pathway in vivo prevents the pathologic changes of diabetic nephropathy, supporting a potential role for inhibitors of RhoA/Rho in the treatment of diabetic renal disease.",30552 +What is the outlook for Acute Disseminated Encephalomyelitis ?,"Corticosteroid therapy typically helps hasten recovery from most ADEM symptoms. The long-term prognosis for individuals with ADEM is generally favorable. For most individuals, recovery begins within days, and within six months the majority of ADEM patients will have total or near total recoveries. Others may have mild to moderate lifelong impairment ranging from cognitive difficulties, weakness, loss of vision, or numbness. Severe cases of ADEM can be fatal but this is a very rare occurrence. ADEM can recur, usually within months of the initial diagnosis, and is treated by restarting corticosteroids. A small fraction of individuals who are initially diagnosed as having ADEM can go on to develop MS, but there is currently no method or known risk factors to predict whom those individuals will be.",30553 +Who is at risk for Electrocardiogram? ?,"An electrocardiogram (EKG) has no serious risks. It's a harmless, painless test that detects the heart's electrical activity. EKGs don't give off electrical charges, such as shocks. + +You may develop a mild rash where the electrodes (soft patches) were attached. This rash often goes away without treatment.",30554 +How many people are affected by 2q37 deletion syndrome ?,"2q37 deletion syndrome appears to be a rare condition, although its exact prevalence is unknown. Approximately 100 cases have been reported worldwide.",30555 +Does anti-interleukin-6 monoclonal antibody induce regression of human prostate cancer xenografts in nude mice?,"These studies suggest that IL-6 contributes to prostate cancer growth in vivo, and that targeting IL-6 may contribute to prostate cancer therapy.",30556 +Is rapid activation of Ras by fluid flow mediated by Galpha ( q ) and Gbetagamma subunits of heterotrimeric G proteins in human endothelial cells?,"These results suggest that the rapid, shear-induced activation of Ras is mediated by Galpha(q) through the activity of Gbetagamma subunits in human vascular endothelial cells.",30557 +Is oculocutaneous albinism inherited ?,"Oculocutaneous albinism is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.",30558 +Does a femtosecond laser create a stronger flap than a mechanical microkeratome?,"The FS laser produces greater corneal stromal inflammation than the MM early postoperatively without any increase in apoptosis and stronger flap adhesion late postoperatively. Therefore, it may require stronger anti-inflammatory drugs to be administered.",30559 +"Are insulin resistance , serum visfatin , and adiponectin levels associated with metabolic disorders in chronic hepatitis C virus-infected patients?","IR, adiponectin, and visfatin were related to several metabolic markers of HCV, suggesting the characteristics of HCV-related metabolic abnormalities.",30560 +What are the genetic changes related to aromatic l-amino acid decarboxylase deficiency ?,"Mutations in the DDC gene cause AADC deficiency. The DDC gene provides instructions for making the AADC enzyme, which is important in the nervous system. This enzyme helps produce dopamine and serotonin from other molecules. Dopamine and serotonin are neurotransmitters, which are chemical messengers that transmit signals between nerve cells, both in the brain and spinal cord (central nervous system) and in other parts of the body (peripheral nervous system). Mutations in the DDC gene result in reduced activity of the AADC enzyme. Without enough of this enzyme, nerve cells produce less dopamine and serotonin. Dopamine and serotonin are necessary for normal nervous system function, and changes in the levels of these neurotransmitters contribute to the developmental delay, intellectual disability, abnormal movements, and autonomic dysfunction seen in people with AADC deficiency.",30561 +What causes X-linked adrenal hypoplasia congenita ?,"X-linked adrenal hypoplasia congenita is caused by mutations in the NR0B1 gene. The NR0B1 gene provides instructions to make a protein called DAX1. This protein plays an important role in the development and function of several hormone-producing tissues including the adrenal glands, two hormone-secreting glands in the brain (the hypothalamus and pituitary), and the gonads (ovaries in females and testes in males). The hormones produced by these glands control many important body functions. Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic hypogonadism occur when endocrine glands do not produce the right amounts of certain hormones.",30562 +Does fusion hybrid of dendritic cells and engineered tumor cells expressing interleukin-12 induce type 1 immune responses against tumor?,These results demonstrate that the engineered fusion hybrid vaccines that combine Th1 cytokine gene-modified tumor cells with DCs may be an attractive strategy for cancer immunotherapy.,30563 +Do extracellular histones mediate the effects of metal-rich air particles on blood coagulation?,This observational study suggests potential roles of extracellular histones in PM-induced hypercoagulability. Experimental studies are warranted to further characterize these findings.,30564 +Does hoechst increase adeno-associated virus-mediated transgene expression in airway epithelia by inducing the cytomegalovirus promoter?,"Hoechst dramatically augments and accelerates AAV-mediated transgene expression in airway epithelia without altering AAV-mediated gene transfer. Hoechst activation of the cytomegalovirus promoter is seen in plasmids, although it is drastically enhanced in the context of AAV.",30565 +Is serum talin-1 a potential novel biomarker for diagnosis of hepatocellular carcinoma in Egyptian patients?,"The present study showed for the first time that Talin-1 (TLN1) is a potential diagnostic marker for HCC, with a higher sensitivity and specificity compared to the traditional biomarker AFP.",30566 +Are patients with post-polio syndrome more likely to have subclinical involvement as compared to polio survivors without new symptoms?,"Subclinical involvement is common in limbs thought to be nonaffected by polio survivors, and this is especially present in those fulfilling criteria for PPS. New muscle weakness may develop in apparently nonaffected, subclinically involved muscles. Thus we believe that four-limb EMG studies should be performed in all polio survivors, especially in those with the symptoms of PPS.",30567 +Does the novel structure of the cockroach allergen Bla g 1 have implications for allergenicity and exposure assessment?,"Bla g 1 has a novel fold with a capacity to bind various lipids, which suggests a digestive function associated with nonspecific transport of lipid molecules in cockroaches. Defining the basic structural unit of Bla g 1 facilitates the standardization of assays in absolute units for the assessment of environmental allergen exposure.",30568 +Do discrepancies in clinical laboratory testing of eligibility for trastuzumab therapy : apparent immunohistochemical false-positives get the message?,"Discordant HercepTest/FISH results, and to a lesser extent discordance with CB11 IMH, are most commonly false-positive results with a score of 2+. The 2+ score as defined in the guidelines for the FDA-approved HercepTest should not be used as a criterion for trastuzumab therapy unless confirmed by FISH. Determination of Her-2 gene copy number by FISH may be a more accurate and reliable method for selecting patients eligible for trastuzumab therapy.",30569 +Does flutamide increase aldosterone levels in gonadectomized male but not female Wistar rats?,Testosterone regulates BP in male and female gonadectomized rats via the AR. Flutamide by itself exerts influence over aldosterone in the absence of gonadal steroid replacement suggesting AR involvement in renal sodium handling. These flutamide effects were sex-specific and not seen in female rats.,30570 +Is ku86 important for TrkA overexpression-induced breast cancer cell invasion?,These data allowed the identification of Ku86 as a new player involved in metastasis in breast cancer cells. Our findings suggest that TrkA and its down stream signaling pathways should be regarded as potential new targets for the development of future breast cancer therapy.,30571 +Does eEG correlate of finger movements with different inertial load conditions as revealed by averaging techniques?,"Overall, the data demonstrate that adding inertial load to the finger with larger angular displacements involves systematic increase in activation across frontal and precentral areas that are related to movement initiation as reflected in BP-100 to 0 and N0 to 100.",30572 +Are serum and saliva levels of sialic acid elevated in alcoholics?,This study confirms that serum sialic acid is a valuable marker for detecting and monitoring alcohol abuse. This work also indicates that sialic acid in saliva could be used possibly as a noninvasive marker for alcohol abuse.,30573 +What is (are) cystic fibrosis ?,"Cystic fibrosis is an inherited disease characterized by the buildup of thick, sticky mucus that can damage many of the body's organs. The disorder's most common signs and symptoms include progressive damage to the respiratory system and chronic digestive system problems. The features of the disorder and their severity varies among affected individuals. Mucus is a slippery substance that lubricates and protects the linings of the airways, digestive system, reproductive system, and other organs and tissues. In people with cystic fibrosis, the body produces mucus that is abnormally thick and sticky. This abnormal mucus can clog the airways, leading to severe problems with breathing and bacterial infections in the lungs. These infections cause chronic coughing, wheezing, and inflammation. Over time, mucus buildup and infections result in permanent lung damage, including the formation of scar tissue (fibrosis) and cysts in the lungs. Most people with cystic fibrosis also have digestive problems. Some affected babies have meconium ileus, a blockage of the intestine that occurs shortly after birth. Other digestive problems result from a buildup of thick, sticky mucus in the pancreas. The pancreas is an organ that produces insulin (a hormone that helps control blood sugar levels). It also makes enzymes that help digest food. In people with cystic fibrosis, mucus blocks the ducts of the pancreas, reducing the production of insulin and preventing digestive enzymes from reaching the intestines to aid digestion. Problems with digestion can lead to diarrhea, malnutrition, poor growth, and weight loss. In adolescence or adulthood, a shortage of insulin can cause a form of diabetes known as cystic fibrosis-related diabetes mellitus (CFRDM). Cystic fibrosis used to be considered a fatal disease of childhood. With improved treatments and better ways to manage the disease, many people with cystic fibrosis now live well into adulthood. Adults with cystic fibrosis experience health problems affecting the respiratory, digestive, and reproductive systems. Most men with cystic fibrosis have congenital bilateral absence of the vas deferens (CBAVD), a condition in which the tubes that carry sperm (the vas deferens) are blocked by mucus and do not develop properly. Men with CBAVD are unable to father children (infertile) unless they undergo fertility treatment. Women with cystic fibrosis may experience complications in pregnancy.",30574 +Does ganoderma extract prevent albumin-induced oxidative damage and chemokines synthesis in cultured human proximal tubular epithelial cells?,Our results suggest that Ganoderma significantly reduces oxidative damages and apoptosis in PTEC induced by HSA. The differential reduction of IL-8 or sICAM-1 released from HSA-activated PTEC by different components of the LZ implicates that components of Ganoderma with different molecular weights could play different roles and operate different mechanisms in preventing HSA-induced PTEC damage.,30575 +What is (are) Uncombable hair syndrome ?,Uncombable hair syndrome (UHS) is a rare disorder of the hair shaft of the scalp. It usually is characterized by silvery-blond or straw-colored hair that is disorderly; stands out from the scalp; and cannot be combed flat. It may first become apparent from 3 months of age to 12 years of age. UHS is likely inherited in an autosomal dominant manner with reduced penetrance. A responsible gene has not yet been identified. The condition often spontaneously regresses in late childhood.,30576 +Is asymptomatic leg atherosclerosis reduced by regular physical activity . Longitudinal results from the cohort `` men born in 1914 ''?,"regular physical activity is associated with reduced occurrence of asymptomatic leg atherosclerosis, even in men taking up exercise after age of 55.",30577 +What are the symptoms of I Can Lower My Risk for Type 2 Diabetes: A Guide for American Indians ?,"Many people have no visible signs or symptoms of diabetes. Symptoms can also be so mild that you might not notice them. More than 5 million people in the United States have type 2 diabetes and do not know it. + +- increased thirst - increased hunger - fatigue - increased urination, especially at night - unexplained weight loss - blurred vision - sores that do not heal",30578 +What is (are) Treacher Collins syndrome ?,"Treacher Collins syndrome (TCS) is a condition that affects the development of bones and other tissues of the face. The signs and symptoms vary greatly, ranging from almost unnoticeable to severe. Most affected people have underdeveloped facial bones, particularly the cheek bones, and a very small jaw and chin (micrognathia). Other features may include cleft palate, eye abnormalities, and hearing loss. TCS may be caused by mutations in the TCOF1, POLR1C, or POLR1D genes. When the TCOF1 or POLR1D gene is responsible, it is inherited in an autosomal dominant manner. However, about 60% of autosomal dominant cases are due to a new mutation in the gene and are not inherited from a parent. When the POLR1C gene is responsible, it is inherited in an autosomal recessive manner. In some cases, the genetic cause of the condition is unknown.",30579 +"What are the symptoms of Corneal hypesthesia, familial ?","The Human Phenotype Ontology provides the following list of signs and symptoms for Corneal hypesthesia, familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skeletal system - Autosomal dominant inheritance - Decreased corneal sensation - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30580 +Is pulmonary arterial hypertension inherited ?,"Pulmonary arterial hypertension is usually sporadic, which means it occurs in individuals with no known family history of the disorder. These non-familial cases are described as idiopathic pulmonary arterial hypertension. About 20 percent of these cases are caused by mutations in one of the genes known to be associated with the disease, but most of the time a causative gene mutation has not been identified. Inherited cases of this disorder are known as familial pulmonary arterial hypertension. When the condition is inherited, it most often has an autosomal dominant pattern of inheritance, which means one copy of an altered gene in each cell is sufficient to cause the disorder. However, many people with an altered gene never develop pulmonary arterial hypertension; this phenomenon is called reduced penetrance.",30581 +What causes What I need to know about Gestational Diabetes ?,"Gestational diabetes happens when your body can't make enough insulin during pregnancy. Insulin is a hormone made in your pancreas, an organ located behind your stomach. Insulin helps your body use glucose for energy and helps control your blood glucose levels. + +During pregnancy, your body makes more hormones and goes through other changes, such as weight gain. These changes cause your body's cells to use insulin less effectively, a condition called insulin resistance. Insulin resistance increases your body's need for insulin. If your pancreas can't make enough insulin, you will have gestational diabetes. + +All pregnant women have some insulin resistance during late pregnancy. However, some women have insulin resistance even before they get pregnant, usually because they are overweight. These women start pregnancy with an increased need for insulin and are more likely to have gestational diabetes. + + + +What are my chances of getting gestational diabetes? Your chances of getting gestational diabetes are higher if you - are overweight - have had gestational diabetes before - have given birth to a baby weighing more than 9 pounds - have a parent, brother, or sister with type 2 diabetes - have prediabetes, meaning your blood glucose levels are higher than normal yet not high enough for a diagnosis of diabetes - are African American, American Indian, Asian American, Hispanic/Latina, or Pacific Islander American - have a hormonal disorder called polycystic ovary syndrome, also known as PCOS",30582 +Are ki-67 expression and residual tumour ( R ) classification associated with disease-free survival in desmoid tumour patients?,"Ki-67 seems to serve as a predictive marker concerning disease-free survival of desmoid tumour patients. In patients presenting with Ki-67 positive desmoids, which are unlikely to be resected in a curative manner, alternative treatment (e.g. sulindac) may be preferable.",30583 +Are low-avidity anti-HPA-1a alloantibodies capable of antigen-positive platelet destruction in the NOD/SCID mouse model of alloimmune thrombocytopenia?,"Low-avidity HPA-1a antibodies are present in a significant number of NAIT cases and, although they can escape detection by standard serology, they harbor the capability of PLT destruction in vivo.",30584 +What is (are) Intellectual disability-developmental delay-contractures syndrome ?,"Intellectual disability-developmental delay-contractures syndrome is a rare, slowly progressive genetic disorder that is present at birth. It is characterized by contractures of the joints of the feet (arthrogryposis multiplex congenita), muscle degeneration (atrophy), mild intellectual disability and an impaired ability to move certain muscles of the eyes, face and tongue. Other symptoms might include spasticity and seizures. Intellectual disability-developmental delay-contractures syndrome is caused by mutations in the ZC4H2 gene and is inherited in an X-linked recessive fashion. Most people with intellectual disability-developmental delay-contractures syndrome are male; however carrier females have been reported to have mild symptoms. There is no known cure for intellectual disability-developmental delay-contractures syndrome. Treatment is symptomatic and supportive.",30585 +Is 3MC syndrome inherited ?,"This condition is inherited in an autosomal recessive pattern, 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.",30586 +What is (are) Encephalitis ?,"Encephalitis is an inflammation of the brain. Usually the cause is a viral infection, but bacteria can also cause it. It can be mild or severe. Most cases are mild. You may have flu-like symptoms. With a mild case, you may just need rest, plenty of fluids, and a pain reliever. Severe cases need immediate treatment. Symptoms of severe cases include - Severe headache - Sudden fever - Drowsiness - Vomiting - Confusion - Seizures In babies, additional symptoms may include constant crying, poor feeding, body stiffness, and bulging in the soft spots of the skull. Severe cases may require a stay in the hospital. Treatments include oral and intravenous medicines to reduce inflammation and treat infection. Patients with breathing difficulties may need artificial respiration. Some people may need physical, speech, and occupational therapy once the illness is under control. NIH: National Institute of Neurological Disorders and Stroke",30587 +"Is hypermanganesemia with dystonia, polycythemia, and cirrhosis inherited ?","This condition is inherited in an autosomal recessive pattern, 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.",30588 +Does urinary oxalic acid excretion differ after oral loading of rats with various oxalate salts?,"The upper gastrointestinal tract seems to be the major site of oxalic acid absorption and only free oxalate is absorbed irrespective of whether it is the sodium salt or not. After binding to calcium in the gut, oxalic acid absorption seems to be inhibited in the presence of calcium and this means that calcium oxalate is poorly absorbed (at least in the upper gastrointestinal tract).",30589 +What causes Kawasaki Disease ?,"The cause of Kawasaki disease isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics isn't known. + +Kawasaki disease can't be passed from one child to another. Your child won't get it from close contact with a child who has the disease. Also, if your child has the disease, he or she can't pass it to another child.",30590 +How many people are affected by lattice corneal dystrophy type II ?,"Lattice corneal dystrophy type II is a rare condition; however, the prevalence is unknown. While this condition can be found in populations worldwide, it was first described in Finland and is more common there.",30591 +Do you have information about Medicines and Children,"Summary : When it comes to taking medicines, kids aren't just small adults. For prescription medicines, there is a ""Pediatric"" section of the label. It says whether the medication has been studied for its effects on children. It also tells you what ages have been studied. Aside from drugs for fever or pain, most over-the-counter products haven't actually been studied in children for effectiveness, safety, or dosing. When you give medicine to your child, be sure you're giving the right medicine and the right amount. Read and follow the label directions. Use the correct dosing device. If the label says two teaspoons and you're using a dosing cup with ounces only, don't guess. Get the proper measuring device. Don't substitute another item, such as a kitchen spoon. Talk to your doctor, pharmacist, or other health care provider before giving two medicines at the same time. That way, you can avoid a possible overdose or an unwanted interaction. Follow age and weight limit recommendations. If the label says don't give to children under a certain age or weight, don't do it. Food and Drug Administration",30592 +Are interactions between ultraviolet light and MC1R and OCA2 variants determinants of childhood nevus and freckle phenotypes?,"Complex interactions between different UV exposure profiles and genotype combinations determine nevus numbers and size, and the degree of facial freckling.",30593 +What is (are) aminoacylase 1 deficiency ?,"Aminoacylase 1 deficiency is an inherited disorder that can cause neurological problems; the pattern and severity of signs and symptoms vary widely among affected individuals. Individuals with this condition typically have delayed development of mental and motor skills (psychomotor delay). They can have movement problems, reduced muscle tone (hypotonia), mild intellectual disability, and seizures. However, some people with aminoacylase 1 deficiency have no health problems related to the condition. A key feature common to all people with aminoacylase 1 deficiency is high levels of modified protein building blocks (amino acids), called N-acetylated amino acids, in the urine.",30594 +What is (are) Anesthesia ?,"If you are having surgery, your doctor will give you medicine called an anesthetic. Anesthetics reduce or prevent pain. There are three main types: - Local - numbs one small area of the body. You stay awake and alert. - Regional - blocks pain in an area of the body, such an arm or leg. A common type is epidural anesthesia, which is often used during childbirth. - General - makes you unconscious. You do not feel any pain, and you do not remember the procedure afterwards. You may also get a mild sedative to relax you. You stay awake but may not remember the procedure afterwards. Sedation can be used with or without anesthesia. The type of anesthesia or sedation you get depends on many factors. They include the procedure you are having and your current health.",30595 +Does a novel compound NSC745885 exert an anti-tumor effect on tongue cancer SAS cells in vitro and in vivo?,The data of this study provide evidence for NSC745885 as a potential novel therapeutic drug for the treatment of human OSCC.,30596 +Is tactile feedback present during minimally invasive surgery?,"These data indicate that laparoscopic instruments do, in fact, provide surgeons with haptic feedback. Interpretation of the texture, shape, and consistency of objects can be performed. In some situations, laparoscopic instruments appear to amplify the haptic information available. Our ongoing work is directed at further defining force interactions.",30597 +What is (are) Choroideremia ?,"Choroideremia is a genetic condition that causes vision loss. This disorder typically affects males. The first symptom is usually impairment of night vision (night blindness), which can occur in childhood. People with this disorder also experience narrowing of the field of vision (tunnel vision) and decrease in the ability to see details (visual acuity). The vision problems are due to loss of cells in the retina (light sensitive part of the eye) and choroid (blood vessels in the eye). The vision issues tend to get worse over time and usually lead to blindness in late adulthood. The rate and degree of vision loss differs for each person. Choroideremia is caused by spelling mistakes (mutations) in the CHM gene and is inherited in an X-linked recessive pattern.",30598 +Is structural integrity decreased in both Achilles tendons in people with unilateral Achilles tendinopathy?,Both Achilles tendons are structurally compromised in patients with unilateral Achilles tendinopathy. Future studies need to investigate whether these changes increase the risk of developing symptoms.,30599 +Does osteoglycin prevent cardiac dilatation and dysfunction after myocardial infarction through infarct collagen strengthening?,"Increased osteoglycin expression in the infarct scar promotes proper collagen maturation and protects against cardiac disruption and adverse remodeling after MI. In human heart failure, osteoglycin is a promising biomarker for ischemic heart failure.",30600 +Is anticoagulation the gold standard therapy for blunt carotid injuries to reduce stroke rate?,"Our prospective evaluation of blunt CAIs suggests that early diagnosis and prompt anticoagulation reduce ischemic neurologic events and their disability. The optimal anticoagulation regimen, however, remains to be established.",30601 +Does stress differentially regulate synaptophysin and synaptotagmin expression in hippocampus?,"This rapid and differential regulation of synaptic vesicle proteins could be responsible for some of the morphological, biochemical, and behavioral changes observed after stress exposure. These changes may be relevant to such clinical disorders as psychoses, depression, and posttraumatic stress disorder that are sensitive to stress and involve changes in neural and synaptic plasticity.",30602 +What is (are) Megalencephaly ?,"Megalencephaly, also called macrencephaly, is a condition in which an infant or child has an abnormally large, heavy, and usually malfunctioning brain. By definition, the brain weight is greater than average for the age and gender of the child. Head enlargement may be evident at birth or the head may become abnormally large in the early years of life. Megalencephaly is thought to be related to a disturbance in the regulation of cell production in the brain. In normal development, neuron proliferation - the process in which nerve cells divide to form new generations of cells - is regulated so that the correct number of cells is produced in the proper place at the appropriate time. In a megalencephalic brain, too many cells are produced either during development or progressively as part of another disorder, such as one of the neurofibromatoses or leukodystrophies. Symptoms of megalencephaly include delayed development, seizures, and corticospinal (brain cortex and spinal cord) dysfunction. Megalencephaly affects males more often than females. Unilateral megalencephaly or hemimegalencephaly is a rare condition that is characterized by the enlargement of one side of the brain. Children with this disorder may have a large, asymmetrical head accompanied by seizures, partial paralysis, and impaired cognitive development. Megalencephaly is different from macrocephaly (also called megacephaly or megalocephaly), which describes a big head, and which doesnt necessarily indicate abnormality. Large head size is passed down through the generations in some families.",30603 +Is daily use of non-steroidal anti-inflammatory drugs less frequent in patients with Barrett 's oesophagus who develop an oesophageal adenocarcinoma?,"(i) Daily use of non-steroidal anti-inflammatory drugs is more prevalent in Barrett's oesophagus than oesophageal adenocarcinoma patients, because of a more prevalent use of non-aspirin non-steroidal anti-inflammatory drugs. (ii) Use of non-steroidal anti-inflammatory drugs in Barrett's oesophagus patients is safe if acid suppression is adequate.",30604 +What are the treatments for Transverse Myelitis ?,"No effective cure currently exists for people with transverse myelitis. Physicians often prescribe corticosteroid therapy during the first few weeks of illness to decrease inflammation. Following initial therapy, the most critical part of the treatment for this disorder consists of keeping the patients body functioning while hoping for either complete or partial spontaneous recovery of the nervous system. If an individual begins to recover limb control, physical therapy begins to help improve muscle strength, coordination, and range of motion.",30605 +Does n-methyl-D-aspartate receptor antagonism have differential effects on alcohol craving and drinking in heavy drinkers?,NMDA receptor signaling may play divergent roles in mediating alcohol cue-induced craving and alcohol drinking in heavy drinkers. The potential efficacy of memantine as monotherapy for alcohol use disorders may be limited by its tendency to disinhibit drinking in some individuals.,30606 +Does fetal striatal grafting slow motor and cognitive decline of Huntington 's disease?,"Grafted patients experienced a milder clinical course with less pronounced motor/cognitive decline and associated brain metabolism improvement. Life-time follow-up may ultimately clarify whether transplantation permanently modifies the natural course of the disease, allowing longer sojourn time at less severe clinical stage, and improvement of overall survival.",30607 +Is X-linked lymphoproliferative disease inherited ?,"This condition is generally inherited in an X-linked recessive pattern. The genes associated with this condition are 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 an associated gene in each cell is sufficient to cause the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of an associated gene, males are affected by X-linked recessive disorders much more frequently than females. However, in rare cases a female carrying one altered copy of the SH2D1A or XIAP gene in each cell may develop signs and symptoms of this condition.",30608 +Is use of proscribed chloroquine associated with an increased risk of pfcrt T76 mutation in some parts of Ghana?,This study has shown that high variation in the prevalence of T76 mutations of P. falciparum is linked with the level of CQ stocking and usage within study area.,30609 +Is Cleidocranial dysplasia inherited ?,"Cleidocranial dysplasia is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases may result from de novo mutations (new mutations) in the gene. These cases occur in people with no history of the disorder in their family.",30610 +Is a functional polymorphism in CSF1R gene a novel susceptibility marker for lung cancer among never-smoking females?,"Our results suggest that the three SNPs, particularly CSF1R rs10079250, may contribute to lung cancer susceptibility in never-smoking females.",30611 +What causes Thrombocythemia and Thrombocytosis ?,"Primary Thrombocythemia + +In this condition, faulty stem cells in the bone marrow make too many platelets. What causes this to happen usually isn't known. When this process occurs without other blood cell disorders, it's called essential thrombocythemia. + +A rare form of thrombocythemia is inherited. (""Inherited"" means the condition is passed from parents to children through the genes.) In some cases, a genetic mutation may cause the condition. + +In addition to the bone marrow making too many platelets, the platelets also are abnormal in primary thrombocythemia. They may form blood clots or, surprisingly, cause bleeding when they don't work well. + +Bleeding also can occur because of a condition that develops called von Willebrand disease. This condition affects the blood clotting process. + +After many years, scarring of the bone marrow can occur. + +Secondary Thrombocytosis + +This condition occurs if another disease, condition, or outside factor causes the platelet count to rise. For example, 35 percent of people who have high platelet counts also have cancermostly lung, gastrointestinal, breast, ovarian, and lymphoma. Sometimes a high platelet count is the first sign of cancer. + +Other conditions or factors that can cause a high platelet count are: + +Iron-deficiency anemia (uh-NEE-me-uh) + +Hemolytic (HEE-moh-lit-ick) anemia + +Absence of a spleen (after surgery to remove the organ) + +Inflammatory or infectious diseases, such as connective tissue disorders, inflammatory bowel disease, and tuberculosis + +Reactions to medicine + +Some conditions can lead to a high platelet count that lasts for only a short time. Examples of such conditions include: + +Recovery from serious blood loss + +Recovery from a very low platelet count caused by excessive alcohol use and lack of vitamin B12 or folate + +Acute (short-term) infection or inflammation + +Response to physical activity + +Although the platelet count is high in secondary thrombocytosis, the platelets are normal (unlike in primary thrombocythemia). Thus, people who have secondary thrombocytosis have a lower risk of blood clots and bleeding.",30612 +Is faster VO ( 2 ) kinetics after eccentric contractions explained by better matching of O ( 2 ) delivery to O ( 2 ) utilization?,We propose that the sped VO(2p) kinetics observed in the Slow group coupled with an improved [HHb]/VO(2p) ratio suggest a better matching of local muscle O2 delivery to O2 utilization following eccentric contractions.,30613 +Does cardiac troponin I predict outcome after ruptured abdominal aortic aneurysm repair?,"Approximately half of patients who survived repair of ruptured AAA for more than 24 h sustained a detectable myocardial injury within the first 48 h. A perioperative increase in the level of cTnI, with or without clinically apparent cardiac dysfunction, was associated with postoperative death.",30614 +Is urinary bisphenol A associated with insulin resistance and obesity in reproductive-aged women?,"Higher urinary BPA levels are associated with obesity, insulin resistance and metabolic disruption in Korean reproductive-aged women. BPA could play an important role in the pathogenesis of metabolic abnormalities. Further studies are required to elucidate the relationship between EDCs and metabolic disturbances in various age and sex groups.",30615 +What are the genetic changes related to Mainzer-Saldino syndrome ?,"Mainzer-Saldino syndrome is usually caused by mutations in the IFT140 gene. This gene provides instructions for making a protein that is involved in the formation and maintenance of cilia, which are microscopic, finger-like projections that stick out from the surface of cells and participate in signaling pathways that transmit information within and between cells. Cilia are important for the structure and function of many types of cells, including cells in the kidneys, liver, and brain. Light-sensing cells (photoreceptors) in the retina also contain cilia, which are essential for normal vision. Cilia also play a role in the development of the bones, although the mechanism is not well understood. The movement of substances within cilia and similar structures called flagella is known as intraflagellar transport (IFT). This process is essential for the assembly and maintenance of these cell structures. During intraflagellar transport, cells use molecules called IFT particles to carry materials to and from the tips of cilia. IFT particles are made of proteins produced from related genes that belong to the IFT gene family. Each IFT particle is made up of two groups of IFT proteins: complex A, which includes at least six proteins, and complex B, which includes at least 15 proteins. The protein produced from the IFT140 gene forms part of IFT complex A (IFT-A). Mutations in the IFT140 gene that cause Mainzer-Saldino syndrome may change the shape of the IFT140 protein or affect its interactions with other IFT proteins, likely impairing the assembly of IFT-A and the development or maintenance of cilia. As a result, fewer cilia may be present or functional, affecting many organs and tissues in the body and resulting in the signs and symptoms of Mainzer-Saldino syndrome. Disorders such as Mainzer-Saldino syndrome that are caused by problems with cilia and involve bone abnormalities are called skeletal ciliopathies. While IFT140 gene mutations are believed to account for most cases of Mainzer-Saldino syndrome, mutations in additional genes that have not been identified may also cause this disorder.",30616 +What is (are) Cardiomyopathy ?,"Cardiomyopathy is the name for diseases of the heart muscle. These diseases enlarge your heart muscle or make it thicker and more rigid than normal. In rare cases, scar tissue replaces the muscle tissue. Some people live long, healthy lives with cardiomyopathy. Some people don't even realize they have it. In others, however, it can make the heart less able to pump blood through the body. This can cause serious complications, including - Heart failure - Abnormal heart rhythms - Heart valve problems - Sudden cardiac arrest Heart attacks, high blood pressure, infections, and other diseases can all cause cardiomyopathy. Some types of cardiomyopathy run in families. In many people, however, the cause is unknown. Treatment might involve medicines, surgery, other medical procedures, and lifestyle changes. NIH: National Heart, Lung, and Blood Institute",30617 +Is vHZ a novel centrosomal phosphatase associated with cell growth and human primary cancers?,"We generated a VHZ-specific mAb to reveal that VHZ has a novel subcellular localization, namely the centrosome. VHZ is able to facilitate G1/S cell cycle transition in a PTP activity-dependent manner. The upregulation of its protein levels in primary human cancers supports the clinical relevance of the protein in cancers.",30618 +Is the Mini Nutritional Assessment ( MNA ) useful for assessing the risk of malnutrition in adults with intellectual disabilities?,"The Mini Nutritional Assessment is appropriate for screening for under- and over-nutrition in adults with intellectual disabilities. The Mini Nutritional Assessment (especially the version without body mass index) can make routine monitoring of nutritional status of these patients an easier task. However, further studies are needed to develop subtype-specific versions (tools) as various subtypes of intellectual disability are associated with different nutritional problems.",30619 +Is symptomatic presentation of carotid sinus hypersensitivity associated with impaired cerebral autoregulation?,Cerebral autoregulation is altered in symptomatic CSH and therefore appears to be associated with the development of hypotension-related symptoms in individuals with CSH.,30620 +Is the lumped constant for the galactose analog 2-18F-fluoro-2-deoxy-D-galactose increased in patients with parenchymal liver disease?,"Disease may change the LC for a pet tracer, and this study demonstrated the importance of using the correct LC.",30621 +Does abdominal insufflation cause hematogenous spread of colon cancer?,It is unlikely that pneumoperitoneum promotes hematogenous wound implantation of free intraperitoneal cancer cells.,30622 +What is (are) Short Bowel Syndrome ?,"Intestinal adaptation is a process that usually occurs in children after removal of a large portion of their small intestine. The remaining small intestine goes through a period of adaptation and grows to increase its ability to absorb nutrients. Intestinal adaptation can take up to 2 years to occur, and during this time a person may be heavily dependent on parenteral or enteral nutrition.1",30623 +How to diagnose Heart Attack ?,"Your doctor will diagnose a heart attack based on your signs and symptoms, your medical and family histories, and test results. + +Diagnostic Tests + +EKG (Electrocardiogram) + +An EKG is a simple, painless test that detects and records the heart's electrical activity. The test shows how fast the heart is beating and its rhythm (steady or irregular). An EKG also records the strength and timing of electrical signals as they pass through each part of the heart. + +An EKG can show signs of heart damage due to coronary heart disease (CHD) and signs of a previous or current heart attack. + +Blood Tests + +During a heart attack, heart muscle cells die and release proteins into the bloodstream. Blood tests can measure the amount of these proteins in the bloodstream. Higher than normal levels of these proteins suggest a heart attack. + +Commonly used blood tests include troponin tests, CK or CKMB tests, and serum myoglobin tests. Blood tests often are repeated to check for changes over time. + +Coronary Angiography + +Coronary angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show the insides of your coronary arteries. This test often is done during a heart attack to help find blockages in the coronary arteries. + +To get the dye into your coronary arteries, your doctor will use a procedure called cardiac catheterization (KATH-e-ter-ih-ZA-shun). + +A thin, flexible tube called a catheter is put into a blood vessel in your arm, groin (upper thigh), or neck. The tube is threaded into your coronary arteries, and the dye is released into your bloodstream. + +Special x rays are taken while the dye is flowing through the coronary arteries. The dye lets your doctor study the flow of blood through the heart and blood vessels. + +If your doctor finds a blockage, he or she may recommend a procedure calledpercutaneous (per-ku-TA-ne-us) coronary intervention (PCI), sometimes referred to ascoronary angioplasty(AN-jee-oh-plas-tee). This procedure can help restore blood flow through a blocked artery. Sometimes a small mesh tube called a stent is placed in the artery to help prevent blockages after the procedure.",30624 +What are the treatments for Cystic Fibrosis ?,"Cystic fibrosis (CF) has no cure. However, treatments have greatly improved in recent years. The goals of CF treatment include: + +Preventing and controlling lung infections + +Loosening and removing thick, sticky mucus from the lungs + +Preventing or treating blockages in the intestines + +Providing enough nutrition + +Preventing dehydration (a lack of fluid in the body) + +Depending on the severity of CF, you or your child may be treated in a hospital. + +Specialists Involved + +If you or your child has CF, you may be treated by a CF specialist. This is a doctor who is familiar with the complex nature of CF. + +Often, a CF specialist works with a medical team of nurses, physical therapists, dietitians, and social workers. CF specialists often are located at major medical centers. + +The United States also has more than 100 CF Care Centers. These centers have teams of doctors, nurses, dietitians, respiratory therapists, physical therapists, and social workers who have special training related to CF care. Most CF Care Centers have pediatric and adult programs or clinics. + +For more information about CF Care Centers, go to the Cystic Fibrosis Foundation's Care Center Network Web page. + +Treatment for Lung Problems + +The main treatments for lung problems in people who have CF are chest physical therapy (CPT), exercise, and medicines. Your doctor also may recommend a pulmonary rehabilitation (PR) program. + +Chest Physical Therapy + +CPT also is called chest clapping or percussion. It involves pounding your chest and back over and over with your hands or a device to loosen the mucus from your lungs so that you can cough it up. + +You might sit down or lie on your stomach with your head down while you do CPT. Gravity and force help drain the mucus from your lungs. + +Some people find CPT hard or uncomfortable to do. Several devices have been developed that may help with CPT, such as: + +An electric chest clapper, known as a mechanical percussor. + +An inflatable therapy vest that uses high-frequency airwaves to force the mucus that's deep in your lungs toward your upper airways so you can cough it up. + +A small, handheld device that you exhale through. The device causes vibrations that dislodge the mucus. + +A mask that creates vibrations that help break the mucus loose from your airway walls. + +Breathing techniques also may help dislodge mucus so you can cough it up. These techniques include forcing out a couple of short breaths or deeper breaths and then doing relaxed breathing. This may help loosen the mucus in your lungs and open your airways. + +Exercise + +Aerobic exercise that makes you breathe harder can help loosen the mucus in your airways so you can cough it up. Exercise also helps improve your overall physical condition. + +However, CF causes your sweat to become very salty. As a result, your body loses large amounts of salt when you sweat. Thus, your doctor may recommend a high-salt diet or salt supplements to maintain the balance of minerals in your blood. + +If you exercise regularly, you may be able to cut back on your CPT. However, you should check with your doctor first. + +Medicines + +If you have CF, your doctor may prescribe antibiotics, anti-inflammatory medicines, bronchodilators, or medicines to help clear the mucus. These medicines help treat or prevent lung infections, reduce swelling and open up the airways, and thin mucus. If you have mutations in a gene called G551D, which occurs in about 5 percent of people who have CF, your doctor may prescribe the oral medicine ivacaftor (approved for people with CF who are 6 years of age and older). + +Antibiotics are the main treatment to prevent or treat lung infections. Your doctor may prescribe oral, inhaled, or intravenous (IV) antibiotics. + +Oral antibiotics often are used to treat mild lung infections. Inhaled antibiotics may be used to prevent or control infections caused by the bacteria mucoid Pseudomonas. For severe or hard-to-treat infections, you may be given antibiotics through an IV tube (a tube inserted into a vein). This type of treatment may require you to stay in a hospital. + +Anti-inflammatory medicines can help reduce swelling in your airways due to ongoing infections. These medicines may be inhaled or oral. + +Bronchodilators help open the airways by relaxing the muscles around them. These medicines are inhaled. They're often taken just before CPT to help clear mucus out of your airways. You also may take bronchodilators before inhaling other medicines into your lungs. + +Your doctor may prescribe medicines to reduce the stickiness of your mucus and loosen it up. These medicines can help clear out mucus, improve lung function, and prevent worsening lung symptoms. + +Treatments for Advanced Lung Disease + +If you have advanced lung disease, you may need oxygen therapy. Oxygen usually is given through nasal prongs or a mask. + +If other treatments haven't worked, a lung transplant may be an option if you have severe lung disease. A lung transplant is surgery to remove a person's diseased lung and replace it with a healthy lung from a deceased donor. + +Pulmonary Rehabilitation + +Your doctor may recommend PR as part of your treatment plan. PR is a broad program that helps improve the well-being of people who have chronic (ongoing) breathing problems. + +PR doesn't replace medical therapy. Instead, it's used with medical therapy and may include: + +Exercise training + +Nutritional counseling + +Education on your lung disease or condition and how to manage it + +Energy-conserving techniques + +Breathing strategies + +Psychological counseling and/or group support + +PR has many benefits. It can improve your ability to function and your quality of life. The program also may help relieve your breathing problems. Even if you have advanced lung disease, you can still benefit from PR. + +For more information, go to the Health Topics Pulmonary Rehabilitation article. + +Treatment for Digestive Problems + +CF can cause many digestive problems, such as bulky stools, intestinal gas, a swollen belly, severe constipation, and pain or discomfort. Digestive problems also can lead to poor growth and development in children. + +Nutritional therapy can improve your strength and ability to stay active. It also can improve growth and development in children. Nutritional therapy also may make you strong enough to resist some lung infections. A nutritionist can help you create a nutritional plan that meets your needs. + +In addition to having a well-balanced diet that's rich in calories, fat, and protein, your nutritional therapy may include: + +Oral pancreatic enzymes to help you digest fats and proteins and absorb more vitamins. + +Supplements of vitamins A, D, E, and K to replace the fat-soluble vitamins that your intestines can't absorb. + +High-calorie shakes to provide you with extra nutrients. + +A high-salt diet or salt supplements that you take before exercising. + +A feeding tube to give you more calories at night while you're sleeping. The tube may be threaded through your nose and throat and into your stomach. Or, the tube may be placed directly into your stomach through a surgically made hole. Before you go to bed each night, you'll attach a bag with a nutritional solution to the entrance of the tube. It will feed you while you sleep. + +Other treatments for digestive problems may include enemas and mucus-thinning medicines to treat intestinal blockages. Sometimes surgery is needed to remove an intestinal blockage. + +Your doctor also may prescribe medicines to reduce your stomach acid and help oral pancreatic enzymes work better. + +Treatments for Cystic Fibrosis Complications + +A common complication of CF is diabetes. The type of diabetes associated with CF often requires different treatment than other types of diabetes. + +Another common CF complication is the bone-thinning disorder osteoporosis. Your doctor may prescribe medicines that prevent your bones from losing their density.",30625 +Does strong Notch activation hinder bevacizumab efficacy in advanced colorectal cancer?,A potential role of Notch activation in the antitumor activity of bevacizumab could be hypothesized.,30626 +Does hypothermic circulatory arrest increase the risk of ascending thoracic aortic aneurysm resection?,"DHCA with or without retrograde cerebral perfusion does not result in increased morbidity or mortality during the resection of ascending thoracic aortic aneurysms. In fact, this technique may prevent damage to the arch vessels in select cases and avoid the possible complications associated with cross-clamping a friable or atherosclerotic aorta.",30627 +Do retrospective analysis of facial dog bite injuries at a Level I trauma center in the Denver metro area?,Availability of the plastic surgery service at a Level I trauma center is vital for the optimal treatment of facial dog bite injuries. Direct repair and reconstruction of facial dog bite injuries at the earliest opportunity resulted in good outcomes as evidenced by the satisfaction survey data and low complication rate.,30628 +"What are the symptoms of Heart-hand syndrome, Slovenian type ?","The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Slovenian type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myopathy 5% Aplasia of the middle phalanx of the hand - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Dilated cardiomyopathy - Syndactyly - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30629 +What is (are) Iridocorneal endothelial syndrome ?,"Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features: Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye) Swelling of the cornea, and The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ICE syndrome, is more common in women than men, most commonly diagnosed in middle age, and is usually present in only one eye. The condition is actually a grouping of three closely linked conditions: Cogan-Reese syndrome; Chandler's syndrome; and essential (progressive) iris atrophy. The cause of ICE syndrome is unknown, however there is a theory that it is triggered by a virus that leads to swelling of the cornea. While there is no way to stop the progression of the condition, treatment of the symptoms may include medication for glaucoma and corneal transplant for corneal swelling.",30630 +Is Andersen-Tawil syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, a person with Andersen-Tawil syndrome inherits the mutation from one affected parent. Other cases result from new mutations in the KCNJ2 gene. These cases occur in people with no history of the disorder in their family.",30631 +What is (are) Hypertonia ?,"Hypertonia is a condition in which there is too much muscle tone so that arms or legs, for example, are stiff and difficult to move. Muscle tone is regulated by signals that travel from the brain to the nerves and tell the muscle to contract. Hypertonia happens when the regions of the brain or spinal cord that control these signals are damaged. This can occur for many reasons, such as a blow to the head, stroke, brain tumors, toxins that affect the brain, neurodegenerative processes such as in multiple sclerosis or Parkinson's disease, or neurodevelopmental abnormalities such as in cerebral palsy. + +Hypertonia often limits how easily the joints can move. If it affects the legs, walking can become stiff and people may fall because it is difficult for the body to react quickly enough to regain balance. If hypertonia is severe, it can cause a joint to become ""frozen,"" which doctors call a joint contracture. + +Spasticity is a term that is often used interchangeably with hypertonia. Spasticity, however, is a particular type of hypertonia in which the muscles' spasms are increased by movement. In this type, patients usually have exaggerated reflex responses. + +Rigidity is another type of hypertonia in which the muscles have the same amount of stiffness independent of the degree of movement. Rigidity usually occurs in diseases such as Parkinson's disease, that involve the basal ganglia (a deep region of the brain). To distinguish these types of hypertonia, a doctor will as the patient to relax and then will move the arm or leg at different speeds and in a variety of directions.",30632 +Is simpson Grade I-III Resection of Spinal Atypical ( World Health Organization Grade II ) Meningiomas Associated With Symptom Resolution and Low Recurrence?,"Despite published cases suggesting an aggressive clinical course for spinal AMs, this series of spinal AMs reports that gross total resection without adjuvant radiation therapy resulted in symptom resolution and low recurrence.",30633 +Does low-flow ischaemia have no deleterious effect on the steady-state kinetics of 201Tl and 99mTc sestamibi within myocardial tissue?,"In contrast to the published results concerning the effects of anoxia on cell cultures, low-flow ischaemia within myocardial tissue has no deleterious effects on the ability of the cells to accumulate Tl and MIBI under steady-state conditions. This gives definitive evidence of the negligible impact of cellular metabolic disorders in the decrease in Tl or MIBI uptake, which is documented by stress-SPECT within low-flow ischaemic myocardium.",30634 +Is cCNG2 and CDK4 associated with insulin resistance in adipose tissue?,Our data show for the first time that the human CCNG2 and CDK4 expression of VAT are inversely associated with glucose and insulin resistance.,30635 +What is (are) Hemifacial microsomia ?,"Hemifacial microsomia (HFM) is a condition in which part of one side of the face is underdeveloped and does not grow normally. The eye, cheekbone, lower jaw, facial nerves, muscles, and neck may be affected. Other findings may include hearing loss from underdevelopment of the middle ear; a small tongue; and macrostomia (large mouth). HFM is the second most common facial birth defect after clefts. The cause of HFM in most cases is unknown. It usually occurs in people with no family history of HFM, but it is inherited in some cases. Treatment depends on age and the specific features and symptoms in each person.",30636 +What are the treatments for Lesch-Nyhan syndrome ?,These resources address the diagnosis or management of Lesch-Nyhan syndrome: - Gene Review: Gene Review: Lesch-Nyhan Syndrome - Genetic Testing Registry: Lesch-Nyhan syndrome - MedlinePlus Encyclopedia: Lesch-Nyhan Syndrome - MedlinePlus Encyclopedia: Uric Acid Crystals These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30637 +What are the symptoms of Achondroplasia and Swiss type agammaglobulinemia ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Achondroplasia and Swiss type agammaglobulinemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cellular immunodeficiency 90% Lymphopenia 90% Recurrent respiratory infections 90% Fine hair 50% Reduced bone mineral density 50% Short stature 50% Abnormality of the fibula 7.5% Abnormality of the pancreas 7.5% Aganglionic megacolon 7.5% Anemia 7.5% Cognitive impairment 7.5% Hernia of the abdominal wall 7.5% Hypopigmentation of hair 7.5% Malabsorption 7.5% Pectus excavatum 7.5% Abnormality of the thorax - Agammaglobulinemia - Autosomal recessive inheritance - Death in childhood - Hypoplasia of the thymus - Metaphyseal chondrodysplasia - Severe combined immunodeficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30638 +What is (are) Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia ?,"Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare condition in which cells called neuroendocrine cells spread and cluster in the small airways of the lungs. The majority of affected individuals are middled-aged women. Symptoms include shortness of breath and coughing. It is considered to be a precursor for pulmonary carcinoid tumors. Because so few cases have been reported in the medical literature, there is limited information on the prognosis and management of this condition.",30639 +What causes Fine-Lubinsky syndrome ?,"The cause of Fine-Lubinsky syndrome remains unknown. With the exception of one family report of an affected brother and sister (suggesting an autosomal recessive inheritance pattern), all other cases have been sporadic (occurring in people with no family history of FLS). Additional reports are needed to identify a possible genetic cause of FLS. While karyotypes (pictures of chromosomes) were reportedly normal in affected people, the presence of a very small chromosomal rearrangement (too small to detect with a karyotype) as a possible cause for FLS has not been ruled out.",30640 +Does electrocardiographic presentation of blacks with first myocardial infarction explain race differences in thrombolysis administration?,We conclude that the differences in thrombolysis administration to blacks and whites are not accounted for by differences in electrocardiographic presentation or other measured variables. Unmeasured differences in clinical presentation of MI may explain racial differences in thrombolysis and merits further study.,30641 +Are antiprostasome antibodies an appropriate prognostic marker for prostate cancer?,"The presence of serum APA is unlikely to be a strong prognostic indictor for prostate cancer on an individual basis as false positives will occur. However, such immune reactions which may be associated with PSA in cancer patients are in any case of interest in both the biology of prostate cancer and male fertility. The source of prostasomal antigen may be of critical importance to the outcome of the assay. However, immune reactions to prostasomes may be of considerable interest and warrant continued investigation.",30642 +what research (or clinical trials) is being done for Endometrial Cancer ?,"Cancer prevention clinical trials are used to study ways to prevent cancer. + Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements. + + + New ways to prevent endometrial cancer are being studied in clinical trials. + Clinical trials are taking place in many parts of the country. Information about clinical trials can be found in the Clinical Trials section of the NCI website. Check NCI's list of cancer clinical trials for endometrial cancer prevention trials that are now accepting patients.",30643 +What causes Microcephalic osteodysplastic primordial dwarfism type 1 ?,Microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) has been shown to be caused by mutations in the RNU4ATAC gene.,30644 +What is (are) short-chain acyl-CoA dehydrogenase deficiency ?,"Short-chain acyl-CoA dehydrogenase (SCAD) deficiency is a condition that prevents the body from converting certain fats into energy, especially during periods without food (fasting). Signs and symptoms of SCAD deficiency may appear during infancy or early childhood and can include vomiting, low blood sugar (hypoglycemia), a lack of energy (lethargy), poor feeding, and failure to gain weight and grow at the expected rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delay, and a small head size (microcephaly). The symptoms of SCAD deficiency may be triggered by fasting or illnesses such as viral infections. This disorder is sometimes mistaken for Reye syndrome, a severe condition that may develop in children while they appear to be recovering from viral infections such as chicken pox or flu. Most cases of Reye syndrome are associated with the use of aspirin during these viral infections. In some people with SCAD deficiency, signs and symptoms do not appear until adulthood. These individuals are more likely to have problems related to muscle weakness and wasting. The severity of this condition varies widely, even among members of the same family. Some individuals are diagnosed with SCAD deficiency based on laboratory testing but never develop any symptoms of the condition.",30645 +How many people are affected by arginase deficiency ?,"Arginase deficiency is a very rare disorder; it has been estimated to occur once in every 300,000 to 1,000,000 individuals.",30646 +Is the frontal cortex activated during learning of endoscopic procedures?,"The present data suggest that NIRS is a feasible tool for assessing brain activation during endoscopic surgical tasks, and may have a large impact on the future development of teaching, training, and assessment methods for endoscopic surgical skills.",30647 +what research (or clinical trials) is being done for Breast Cancer ?,Clinical trials are research studies on people to find out whether a new drug or treatment is both safe and effective. New therapies are tested on people only after laboratory and animal studies show promising results. The Food and Drug Administration sets strict rules to make sure that people who agree to be in the studies are treated as safely as possible. Clinical trials are taking place in many parts of the country. Information about clinical trials can be found at http://www.cancer.gov/clinicaltrials on the website of the National Cancer Institute (NCI). Check NCI's list of cancer clinical trials for breast cancer prevention trials that are now accepting patients.,30648 +What are the symptoms of Familial hyperlipo-proteinemia type 1 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperlipo-proteinemia type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Episodic abdominal pain - Eruptive xanthomas - Hepatosplenomegaly - Hypercholesterolemia - Hyperchylomicronemia - Hyperlipidemia - Jaundice - Lipemia retinalis - Nausea - Pancreatitis - Splenomegaly - Vomiting - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30649 +Does subthalamic nucleus deep brain stimulation improve visuo-motor impairment in Parkinson 's disease?,'Low-level' clinically-measured motor function responds to STN-DBS but 'high-level' motor and cognitive functions relating to VMC may be unresponsive to STN-DBS.,30650 +What are the treatments for X-linked chondrodysplasia punctata 1 ?,"These resources address the diagnosis or management of X-linked chondrodysplasia punctata 1: - Gene Review: Gene Review: Chondrodysplasia Punctata 1, X-Linked - Genetic Testing Registry: Chondrodysplasia punctata 1, X-linked recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",30651 +Does pomegranate Supplementation accelerate Recovery of Muscle Damage and Soreness and Inflammatory Markers after a Weightlifting Training Session?,"Natural POMj seems to ameliorate the capacity to adhere to an intensive training program. Therefore, elite weightlifters are advised to use natural POMj during intensive training program and competition to accelerate muscle recovery.",30652 +Do temporal lobe cortical thickness correlations differentiate the migraine brain from the healthy brain?,"A model consisting of 15 interregional cortical thickness correlations accurately differentiates the brains of small groups of migraineurs from those of healthy controls. Correlations with the right temporal pole were highly represented in this classifier, suggesting that this region plays an important role in migraine pathophysiology.",30653 +What is (are) What I need to know about Kidney Failure and How Its Treated ?,"Hemodialysis is a treatment for kidney failure that is done in a center several times per week. Some people learn to do hemodialysis in their homes. Hemodialysis uses a machine to filter your blood when your kidneys are too sick to filter any more. With hemodialysis, your blood is filtered outside of your body. Unfiltered blood is removed from the body and flows to the dialyzer to be cleaned. Filtered blood flows back to the body. First, a dialysis nurse places two needles into your arm. A pump on the hemodialysis machine draws your blood through one of the needles into a tube. The tube takes the blood to a filter, called a dialyzer. Inside the dialyzer, your blood flows through thin fibers that are like straws. The wastes and extra fluid leave the blood through tiny holes in the fibers. Then, a different tube carries the filtered blood back to your body through the second needle. The hemodialysis machine throws out the wastes and extra fluid, just like how your body makes urine. Hemodialysis does not make the kidneys better. However, it may help you feel better by filtering your blood when your kidneys fail.",30654 +Do you have information about Veterans and Military Health,"Summary : Military service members and veterans face some different health issues than civilians. During combat, the main health concerns are life-threatening injuries. These include - Shrapnel and gunshot wounds - Lost limbs - Head and brain injuries There may also be a risk of health problems from exposure to environmental hazards, such as contaminated water, chemicals, and infections. Being in combat and being separated from your family can be stressful. The stress can put service members and veterans at risk for mental health problems. These include anxiety, post-traumatic stress disorder, depression and substance abuse. Suicide can also be a concern.",30655 +What is (are) Coping with Chronic Illness ?,"Having a long-term, or chronic, illness can disrupt your life in many ways. You may often be tired and in pain. Your illness might affect your appearance or your physical abilities and independence. You may not be able to work, causing financial problems. For children, chronic illnesses can be frightening, because they may not understand why this is happening to them. These changes can cause stress, anxiety and anger. If they do, it is important to seek help. A trained counselor can help you develop strategies to regain a feeling of control. Support groups might help, too. You will find that you are not alone, and you may learn some new tips on how to cope.",30656 +Do fetal calf serum heat inactivation and lipopolysaccharide contamination influence the human T lymphoblast proteome and phosphoproteome?,"The present study provides new information regarding the effect of FCS heat inactivation and change in FCS-LPS concentration on cellular protein expression, and post-translational modification in human T lymphoblasts. Both heat inactivation and LPS contamination of FCS were shown to modulate the expression and phosphorylation of proteins involved in basic cellular functions, such as protein synthesis, cytoskeleton stability, oxidative stress regulation and apoptosis. Hence, the study emphasizes the need to consider both heat inactivation and LPS contamination of FCS as factors that can influence the T lymphoblast proteome.",30657 +Is cD44 isoform 6 ( CD44v6 ) a prognostic indicator of the response to neoadjuvant chemotherapy in cervical carcinoma?,"These data indicate that CD44v6 is involved in the response to NAC, and eventually in disease outcome. This implicates that the assessment of CD44v6 expression might help in selecting patients who are likely to respond to NAC, i. e., women with significantly reduced CD44v6 expression in their tumors before treatment. Noteworthy, the response to NAC did not predict a favorable disease outcome.",30658 +Are women with partial upper airway obstruction less sleepy than those with obstructive sleep apnea?,These results indicate that partial upper airway obstruction in women should be clinically recognized like obstructive sleep apnea.,30659 +What are the symptoms of Aicardi-Goutieres syndrome type 3 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Aicardi-Goutieres syndrome type 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal recessive inheritance - Cerebral calcification - CSF lymphocytic pleiocytosis - Death in childhood - Delayed myelination - Dystonia - Elevated hepatic transaminases - Encephalopathy - Hepatosplenomegaly - Hyperreflexia - Hypoplasia of the corpus callosum - Muscular hypotonia - Nystagmus - Progressive microcephaly - Severe global developmental delay - Spasticity - Thrombocytopenia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30660 +Is level of improvement determined by PODCI related to parental satisfaction after single-event multilevel surgery in children with cerebral palsy?,"Although changes in sports/physical activity subscale were relatively small, they were found to affect parental satisfaction with SEMS significantly. These indicate that clinicians and researchers should pay attention to sports and physical activities in patients with cerebral palsy.",30661 +What causes GM1 gangliosidosis ?,"All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called lysosomes, where it helps break down certain molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for nerve cell function in the brain. Mutations in the GLB1 gene may lower or eliminate the activity of the -galactosidase enzyme, keeping GM1 ganglioside from being broken down. As a result, it accumulates to toxic levels in tissues and organs, particularly in the brain. This accumulation leads to the destruction of nerve cells, causing the features of the condition. In general, people with higher enzyme activity levels usually have milder features than those with lower activity levels.",30662 +What are the treatments for Myelodysplastic Syndromes ?,"Key Points + - There are different types of treatment for patients with myelodysplastic syndromes. - Treatment for myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. - Three types of standard treatment are used: - Supportive care - Drug therapy - Chemotherapy with stem cell transplant - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial. - Patients can enter clinical trials before, during, or after starting their treatment. - Follow-up tests may be needed. + + + There are different types of treatment for patients with myelodysplastic syndromes. + Different types of treatment are available for patients with myelodysplastic syndromes. Some treatments are standard (the currently used treatment), and some are being tested in clinical trials. A treatment clinical trial is a research study meant to help improve current treatments or obtain information on new treatments for patients with cancer. When clinical trials show that a new treatment is better than the standard treatment, the new treatment may become the standard treatment. Patients may want to think about taking part in a clinical trial. Some clinical trials are open only to patients who have not started treatment. + + + Treatment for myelodysplastic syndromes includes supportive care, drug therapy, and stem cell transplantation. + Patients with a myelodysplastic syndrome who have symptoms caused by low blood counts are given supportive care to relieve symptoms and improve quality of life. Drug therapy may be used to slow progression of the disease. Certain patients can be cured with aggressive treatment with chemotherapy followed by stem cell transplant using stem cells from a donor. + + + Three types of standard treatment are used: + Supportive care Supportive care is given to lessen the problems caused by the disease or its treatment. Supportive care may include the following: - Transfusion therapy Transfusion therapy (blood transfusion) is a method of giving red blood cells, white blood cells, or platelets to replace blood cells destroyed by disease or treatment. A red blood cell transfusion is given when the red blood cell count is low and signs or symptoms of anemia, such as shortness of breath or feeling very tired, occur. A platelet transfusion is usually given when the patient is bleeding, is having a procedure that may cause bleeding, or when the platelet count is very low. Patients who receive many blood cell transfusions may have tissue and organ damage caused by the buildup of extra iron. These patients may be treated with iron chelation therapy to remove the extra iron from the blood. - Erythropoiesis-stimulating agents Erythropoiesis-stimulating agents (ESAs) may be given to increase the number of mature red blood cells made by the body and to lessen the effects of anemia. Sometimes granulocyte colony-stimulating factor (G-CSF) is given with ESAs to help the treatment work better. - Antibiotic therapy Antibiotics may be given to fight infection. Drug therapy - Lenalidomide Patients with myelodysplastic syndrome associated with an isolated del(5q) chromosome abnormality who need frequent red blood cell transfusions may be treated with lenalidomide. Lenalidomide is used to lessen the need for red blood cell transfusions. - Immunosuppressive therapy Antithymocyte globulin (ATG) works to suppress or weaken the immune system. It is used to lessen the need for red blood cell transfusions. - Azacitidine and decitabine Azacitidine and decitabine are used to treat myelodysplastic syndromes by killing cells that are dividing rapidly. They also help genes that are involved in cell growth to work the way they should. Treatment with azacitidine and decitabine may slow the progression of myelodysplastic syndromes to acute myeloid leukemia. - Chemotherapy used in acute myeloid leukemia (AML) Patients with a myelodysplastic syndrome and a high number of blasts in their bone marrow have a high risk of acute leukemia. They may be treated with the same chemotherapy regimen used in patients with acute myeloid leukemia. Chemotherapy with stem cell transplant Stem cell transplant is a method of giving chemotherapy and replacing blood-forming cells destroyed by the treatment. Stem cells (immature blood cells) are removed from the blood or bone marrow of a donor and are frozen for storage. After the chemotherapy is completed, the stored stem cells are thawed and given back to the patient through an infusion. These reinfused stem cells grow into (and restore) the body's blood cells. This treatment may not work as well in patients whose myelodysplastic syndrome was caused by past treatment for cancer. + + + New types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials. + + + Follow-up tests may be needed. + Some of the tests that were done to diagnose the cancer or to find out the stage of the cancer may be repeated. Some tests will be repeated in order to see how well the treatment is working. Decisions about whether to continue, change, or stop treatment may be based on the results of these tests. Some of the tests will continue to be done from time to time after treatment has ended. The results of these tests can show if your condition has changed or if the cancer has recurred (come back). These tests are sometimes called follow-up tests or check-ups.",30663 +Is trough concentration over 12.1 mg/L a major risk factor of vancomycin-related nephrotoxicity in patients with therapeutic drug monitoring?,"Vancomycin trough concentrations over 12.1 mg/L were associated with an increased risk of nephrotoxicity. This is lower than the known threshold. Trough vancomycin concentration over the threshold was the only risk factor of nephrotoxicity among demographic factors, dosing regimen, and other clinical conditions in this study. It is suggested that vancomycin trough concentrations greater than 12.1 mg/L require close monitoring for nephrotoxicity.",30664 +What is (are) Camurati-Engelmann disease ?,"Camurati-Engelmann disease is a condition that mainly affects the bones. People with this disease have increased bone density, particularly affecting the long bones of the arms and legs. In some cases, the skull and hip bones are also affected. The thickened bones can lead to pain in the arms and legs, a waddling walk, muscle weakness, and extreme tiredness. An increase in the density of the skull results in increased pressure on the brain and can cause a variety of neurological problems, including headaches, hearing loss, vision problems, dizziness (vertigo), ringing in the ears (tinnitus), and facial paralysis. The added pressure that thickened bones put on the muscular and skeletal systems can cause abnormal curvature of the spine (scoliosis), joint deformities (contractures), knock knees, and flat feet (pes planus). Other features of Camurati-Engelmann disease include abnormally long limbs in proportion to height, a decrease in muscle mass and body fat, and delayed puberty. The age at which affected individuals first experience symptoms varies greatly; however, most people with this condition develop pain or weakness by adolescence. In some instances, people have the gene mutation that causes Camurati-Engelmann disease but never develop the characteristic features of this condition.",30665 +What are the symptoms of Spinocerebellar ataxia 3 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 3. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Dysautonomia 7.5% Ataxia 57/57 Gaze-evoked nystagmus 15/20 External ophthalmoplegia 34/57 Dysarthria 30/57 Spasticity 62/139 Dystonia 17/57 Fasciculations 12/57 Parkinsonism 3/57 Absent Achilles reflex - Autosomal dominant inheritance - Babinski sign - Bradykinesia - Cerebellar atrophy - Chronic pain - Dementia - Dilated fourth ventricle - Diplopia - Distal amyotrophy - Dysmetric saccades - Dysphagia - Facial-lingual fasciculations - Genetic anticipation - Gliosis - Impaired horizontal smooth pursuit - Limb ataxia - Muscle cramps - Postural instability - Progressive - Progressive cerebellar ataxia - Proptosis - Ptosis - Rigidity - Spinocerebellar tract degeneration - Supranuclear ophthalmoplegia - Truncal ataxia - Urinary bladder sphincter dysfunction - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30666 +Are infection by and protective immune responses against Plasmodium berghei ANKA affected in macrophage scavenger receptors A deficient mice?,"Our results do not reveal a function of SR-A I and II receptors in the Plasmodium berghei ANKA infection, both in the development of CM and parasitemia control. Moreover, these receptors appear not to be required for the establishment of a protective immune response against the malaria liver stages.",30667 +Do comparative analysis of anchorage systems for micro implant orthodontics?,"The most widely used material was TiAl6V4; most of the surfaces were smooth; the most commonly used head type was the bracket; the most often produced length was the ""short"" one (8.0-9.9 mm), the most demanded diameter the ""smaller"" one (1.2-1.4 mms); six systems out of eleven had micro implants with ""extra"" and ""standard"" necks; only 3 systems out of eleven produced ""non self drilling""devices; all the micro implants analysed were able to withstand orthodontic forces between 150 g and 350 g; all devices were suitable for ""immediate loading""; all micro implants had to be removed; all micro implants could be used in growing patients.",30668 +Does cyclosporine a protect RGC-5 cells from excitotoxic cell death?,"CSA can effectively protect RGC-5 cells against glutamate-induced excitotoxicity. Therefore, CSA should be tested in further experiments to evaluate its potential as a neuroprotective substance against RGC disorders.",30669 +Is `` This just a little accident '' : a qualitative understanding of paediatric burns from the perspective of parents?,"Findings from this research will allow health professionals to optimise a holistic clinical service from a consumer's perspective at all stages of the burn journey. These research conclusions could be used for the development of protocols to underpin a comprehensive information and social support management plan for families that would complement and support the surgical, medical and therapeutic treatment plan, providing direction for comprehensive service delivery. Implications for Rehabilitation Health professionals should optimise a holistic clinical service from a consumer's perspective taking into consideration all stages of the burn journey. Therapeutic supports are required to target each phase of the burn journey and address changes in coping strategies and behavioural responses. There is a need for the development of protocols to underpin a comprehensive information and social support management plan for families that will complement and support the surgical and medical treatment plan.",30670 +What is the outlook for Neurosyphilis ?,"Prognosis can change based on the type of neurosyphilis and how early in the course of the disease people with neurosyphilis get diagnosed and treated. Individuals with asymptomatic neurosyphilis or meningeal neurosyphilis usually return to normal health. People with meningovascular syphilis, general paresis, or tabes dorsalis usually do not return to normal health, although they may get much better. Individuals who receive treatment many years after they have been infected have a worse prognosis. Treatment outcome is different for every person.",30671 +What are the treatments for Tourette syndrome ?,These resources address the diagnosis or management of Tourette syndrome: - Gene Review: Gene Review: Tourette Disorder Overview - Genetic Testing Registry: Tourette Syndrome - MedlinePlus Encyclopedia: Gilles de la Tourette syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30672 +What is (are) dihydrolipoamide dehydrogenase deficiency ?,"Dihydrolipoamide dehydrogenase deficiency is a severe condition that can affect several body systems. Signs and symptoms of this condition usually appear shortly after birth, and they can vary widely among affected individuals. A common feature of dihydrolipoamide dehydrogenase deficiency is a potentially life-threatening buildup of lactic acid in tissues (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. Neurological problems are also common in this condition; the first symptoms in affected infants are often decreased muscle tone (hypotonia) and extreme tiredness (lethargy). As the problems worsen, affected infants can have difficulty feeding, decreased alertness, and seizures. Liver problems can also occur in dihydrolipoamide dehydrogenase deficiency, ranging from an enlarged liver (hepatomegaly) to life-threatening liver failure. In some affected people, liver disease, which can begin anytime from infancy to adulthood, is the primary symptom. The liver problems are usually associated with recurrent vomiting and abdominal pain. Rarely, people with dihydrolipoamide dehydrogenase deficiency experience weakness of the muscles used for movement (skeletal muscles), particularly during exercise; droopy eyelids; or a weakened heart muscle (cardiomyopathy). Other features of this condition include excess ammonia in the blood (hyperammonemia), a buildup of molecules called ketones in the body (ketoacidosis), or low blood sugar levels (hypoglycemia). Typically, the signs and symptoms of dihydrolipoamide dehydrogenase deficiency occur in episodes that may be triggered by fever, injury, or other stresses on the body. Affected individuals are usually symptom-free between episodes. Many infants with this condition do not survive the first few years of life because of the severity of these episodes. Affected individuals who survive past early childhood often have delayed growth and neurological problems, including intellectual disability, muscle stiffness (spasticity), difficulty coordinating movements (ataxia), and seizures.",30673 +What is the outlook for SUNCT Headache ?,There is no cure for these headaches. The disorder is not fatal but can cause considerable discomfort.,30674 +What causes Chromosome 4q deletion ?,"People with chromosome 4q deletion are missing genetic material located on the long arm (q) of chromosome 4 in each cell. Scientists suspect that many of the features seen in people affected by this condition are caused by the deletion and/or disruption of certain genes found on 4q. The severity of the condition and the associated signs and symptoms vary depending on the size and location of the deletion and which genes are involved. For example, deletion of the following genes may contribute to the features seen in some affected people: BMP3 - skeletal abnormalities and short stature SEC31A - distinctive craniofacial features PKD2 - kidney abnormalities GRID2, NEUROG2 - neurological problems such as seizures, hypotonia, and delayed motor development (i.e. sitting up, walking, etc) ANK2, HAND2 - heart defects and/or arrhythmias FGF2 - limb (arms and legs) abnormalities Researchers are working to learn more about the other genes on 4q that may contribute to the features seen in people with a chromosome 4q deletion.",30675 +Is plasma sFlt-1-to-PlGF ratio correlated with inflammatory but not with oxidative stress in Chinese preeclamptic women?,"In Chinese preeclamptic women, plasma sFlt-1-to-PlGF ratio is correlated with inflammatory and adipocytokines but not with oxidative stress.",30676 +What are the genetic changes related to deafness and myopia syndrome ?,"Deafness and myopia syndrome is caused by mutations in the SLITRK6 gene. The protein produced from this gene is found primarily in the inner ear and the eye. This protein promotes growth and survival of nerve cells (neurons) in the inner ear that transmit auditory signals. It also controls (regulates) the growth of the eye after birth. In particular, the SLITRK6 protein influences the length of the eyeball (axial length), which affects whether a person will be nearsighted or farsighted, or will have normal vision. The SLITRK6 protein spans the cell membrane, where it is anchored in the proper position to perform its function. SLITRK6 gene mutations that cause deafness and myopia syndrome result in an abnormally short SLITRK6 protein that is not anchored properly to the cell membrane. As a result, the protein is unable to function normally. Impaired SLITRK6 protein function leads to abnormal nerve development in the inner ear and improperly controlled eyeball growth, resulting in the hearing loss and nearsightedness that occur in deafness and myopia syndrome.",30677 +Is cystatin C a reliable marker for estimation of glomerular filtration rate in renal transplantation : validation of a new turbidimetric assay using monospecific sheep antibodies?,The use of algorithms based on cystatin C and creatinine could provide a reliable estimate of GFR in kidney transplantation.,30678 +Does [ Overexpression of angiotensin converting enzyme 2 inhibit inflammatory response of atherosclerotic plaques in hypercholesterolemic rabbits ]?,Overexpression of ACE2 inhibited atherosclerotic plaque inflammation response in hypercholesterolemic rabbits.,30679 +How to diagnose Childhood Astrocytomas ?,"Tests that examine the brain and spinal cord are used to detect (find) childhood astrocytomas. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health. This includes checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - Visual field exam: An exam to check a persons field of vision (the total area in which objects can be seen). This test measures both central vision (how much a person can see when looking straight ahead) and peripheral vision (how much a person can see in all other directions while staring straight ahead). The eyes are tested one at a time. The eye not being tested is covered. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of the brain and spinal cord. A substance called gadolinium is injected into a vein. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). Sometimes magnetic resonance spectroscopy (MRS) is done during the same MRI scan to look at the chemical makeup of the brain tissue. + Childhood astrocytomas are usually diagnosed and removed in surgery. If doctors think there may be an astrocytoma, a biopsy may be done to remove a sample of tissue. For tumors in the brain, a part of the skull is removed and a needle is used to remove tissue. Sometimes, the needle is guided by a computer. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor may remove as much tumor as safely possible during the same surgery. Because it can be hard to tell the difference between types of brain tumors, you may want to have your child's tissue sample checked by a pathologist who has experience in diagnosing brain tumors. The following test may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. An MIB-1 test is a type of immunohistochemistry that checks tumor tissue for an antigen called MIB-1. This may show how fast a tumor is growing. Sometimes tumors form in a place that makes them hard to remove. If removing the tumor may cause severe physical, emotional, or learning problems, a biopsy is done and more treatment is given after the biopsy. Children who have NF1 may form a low-grade astrocytoma in the area of the brain that controls vision and may not need a biopsy. If the tumor does not continue to grow or symptoms do not occur, surgery to remove the tumor may not be needed.",30680 +Does swimming exercise prevent fibrogenesis in chronic kidney disease by inhibiting the myofibroblast transdifferentiation?,"The 60-min swimming exercise may ameliorate DRCKD by inhibiting the transdifferentiation of myofibroblasts in the glomerular mesangium. Moreover, rehabilitative exercise training to rescue CKD is a personalized remedy. Benefits depend on the duration and strength of exercise, and more importantly, on the individual physiological condition.",30681 +What is (are) juvenile Paget disease ?,"Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured). The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly. Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can lead to hearing loss. The disease also affects bones of the spine (vertebrae). The deformed vertebrae can collapse, leading to abnormal curvature of the spine. Additionally, weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with standing and walking.",30682 +Does intermittent high dose proton pump inhibitor enhance the antitumor effects of chemotherapy in metastatic breast cancer?,"The results of this pilot clinical trial showed that intermittent high dose PPI enhance the antitumor effects of chemotherapy in MBC patients without evidence of additional toxicity, which requires urgent validation in a multicenter, randomized, phase III trial.",30683 +what research (or clinical trials) is being done for Dyslexia ?,"The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) support dyslexia research through grants to major research institutions across the country. Current research avenues focus on developing techniques to diagnose and treat dyslexia and other learning disabilities, increasing the understanding of the biological and possible genetic bases of learning disabilities, and exploring the relationship between neurophysiological processes and cognitive functions with regard to reading ability.",30684 +What are the symptoms of Renal hypouricemia ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Renal hypouricemia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Acute kidney injury - Autosomal recessive inheritance - Hypouricemia - Increased urinary urate - Uric acid nephrolithiasis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30685 +What are the treatments for aromatase excess syndrome ?,"These resources address the diagnosis or management of aromatase excess syndrome: - Genetic Testing Registry: Familial gynecomastia, due to increased aromatase activity These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",30686 +What is (are) Jejunal atresia ?,"Jejunal atresia is a birth defect that occurs when the membrane that attaches the small intestines to the abdominal wall (called the mesentery) is partially or completely absent. As a result, a portion of the small intestines (the jejunum) twists around an artery that supplies blood to the colon (the marginal artery). This leads to an intestinal blockage or ""atresia."" Common symptoms include feeding difficulties, failure to thrive, vomiting bile (a bitter-tasting yellowish-green fluid), abdominal swelling, and/or absence of bowel movements after birth. It typically occurs sporadically in people with no family history of the condition; however, more than one family member can rarely be affected, suggesting that there may be a genetic component in some cases. Jejunal atresia is typically treated with surgery.",30687 +What are the symptoms of Disseminated peritoneal leiomyomatosis ?,"Disseminated peritoneal leiomyomatosis (DPL) often does not produce any symptoms. When symptoms do occur, they may include: Abdominal and pelvic pain which is often associated with abnormal menstrual bleeding (dysmenorrhia) Rectal bleeding Abnormally heavy bleeding during menstruation (menorrhagia) Constipation Intestinal obstruction DPL may be discovered incidentally during a physical exam when masses may be felt in the abdomen. Since DPL usually does not produce any symptoms, the condition may also be unexpectedly found during a cesarean section (C-section) or abdominal surgery of another reason.",30688 +Does external suppression cause the low expression of the Cosmc gene in IgA nephropathy?,"No common Cosmc gene mutation was detected. Significantly increased Cosmc expression was observed in plasma-free culture, while LPS could significantly inhibit it, which suggested that it might not be genetic disorders but external suppression that causes the low Cosmc mRNA expression in IgAN.",30689 +Does helminth infection enhance disease in a murine TH2 model of colitis?,We have shown that H diminuta infection is beneficial in other models of colitis. The current data is presented as a caveat to the position that parasitic helminths in general can be considered as a therapy for heterogeneous inflammatory disorders without careful analysis of the immunologic basis of the condition.,30690 +Does narrow band imaging-assisted transurethral resection for non-muscle invasive bladder cancer significantly reduce residual tumour rate?,NBI-TUR decreases residual tumour rate significantly when compared to a matched cohort of WL-TUR.,30691 +Do contrast agents provide a faster learning curve in dipyridamole stress echocardiography?,The use of contrast agents provides a better agreement in the evaluation of stress echo between an experienced and a non-experienced observer in stress echo. Adding routinely contrast agents could probably reduce the number of exams required for the necessary learning curve in stress echocardiography.,30692 +Does combination of voice therapy and antireflux therapy rapidly recover voice-related symptoms in laryngopharyngeal reflux patients?,"Voice therapy may help to restore reversible mucosal change secondary to acidic reflux, inducing rapid resolution of symptoms and shortening of the treatment period.",30693 +What are the symptoms of Prolactinoma ?,"In women, high levels of prolactin in the blood often cause infertility and changes in menstruation. In some women, periods may stop. In others, periods may become irregular or menstrual flow may change. Women who are not pregnant or nursing may begin producing breast milk. Some women may experience a loss of libido-interest in sex. Intercourse may become painful because of vaginal dryness. + +In men, the most common symptom of prolactinoma is erectile dysfunction. Because men have no reliable indicator such as changes in menstruation to signal a problem, many men delay going to the doctor until they have headaches or eye problems caused by the enlarged pituitary pressing against nearby optic nerves. They may not recognize a gradual loss of sexual function or libido. Only after treatment do some men realize they had a problem with sexual function.",30694 +Is short-term heart rate complexity reduced in patients with type 1 diabetes mellitus?,"The magnitude and complexity of HRV are reduced in young patients with DM, indicating vagal dysfunction.",30695 +Does femoral neck bone loss predict fracture risk independent of baseline BMD?,"Bone loss at the femoral neck is a predictor of fracture risk in elderly women, independent of baseline BMD and age.",30696 +What are the treatments for Ovarian small cell carcinoma ?,"Ovarian small cell carcinoma is often treated with surgery and chemotherapy. Radiation therapy may also be used in some cases. Because this tumor is derived from the primitive germ cells (eggs) of the ovary, it is often treated with a chemotherapy regimen similar to what is used to treat ovarian germ cell tumors. Specifically, platinum and etoposide based chemotherapy is typically used to treat ovarian small cell carcinoma.",30697 +What is (are) Lung Cancer ?,"There are two major types of lung cancer -- non-small cell lung cancer and small cell lung cancer. Each type of lung cancer grows and spreads in different ways, and each is treated differently. Non-small cell lung cancer is more common than small cell lung cancer. It generally grows and spreads slowly. Learn more about non-small cell carcinoma. Small cell lung cancer, sometimes called oat cell cancer, grows more quickly and is more likely to spread to other organs in the body. Learn more about small cell carcinoma.",30698 +Is gnathodiaphyseal dysplasia inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",30699 +Does phosphorylation of BK channels modulate the sensitivity to hydrogen sulfide ( H2S )?,Our results suggest that phosphorylation by PKG primes the channels for H2S activation and indicate that channel phosphorylation plays an important role in the response to H2S.,30700 +Is color vision deficiency inherited ?,"Red-green color vision defects and blue cone monochromacy are inherited in an X-linked recessive pattern. The OPN1LW and OPN1MW genes are located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one genetic change in each cell is sufficient to cause the condition. Males are affected by X-linked recessive disorders much more frequently than females because in females (who have two X chromosomes), a genetic change would have to occur on both copies of the chromosome to cause the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. Blue-yellow color vision defects are inherited in an autosomal dominant pattern, which means one copy of the altered OPN1SW gene in each cell is sufficient to cause the condition. In many cases, an affected person inherits the condition from an affected parent.",30701 +Does selective cyclooxygenase-2 inhibition with celecoxib decrease angiotensin II-induced abdominal aortic aneurysm formation in mice?,COX-2-derived prostanoids play a fundamental role in the development of Ang II-induced AAAs in both hyperlipidemic and nonhyperlipidemic mice.,30702 +Does [ A G-quadruplex ligand SYUIQ-5 induce autophagy by inhibiting the Akt-FOXO3a pathway in nasopharyngeal cancer cells ]?,"SYUIQ-5 induces autophagy in cancer cells. This may be related to SYUIQ-5-mediated p-Akt down-regulation and FOXO3a nuclear translocation, which promot LC3 transcription. BNIP3 is involved in SYUIQ-5 induced autophagy.",30703 +Are cognitive coping and goal adjustment associated with symptoms of depression and anxiety in people with acquired hearing loss?,These results provide us with important targets for prevention and intervention of mental health problems in people with AHL.,30704 +How to prevent Hearing Loss ?,"Researchers funded by the National Institutes of Health are studying the causes of hearing loss as well as new treatments. For example, they are studying ways to improve hearing aids so that you can hear certain sounds more clearly even when you are surrounded by background noise. They are also working to to improve cochlear implants and develop diagnostic methods to determine who would benefit from two versus one cochlear implant, especially in young children. Finding ways to improve access to accessible and affordable hearing health care, including screening and assessment, hearing aid selection and fitting, and rehabilitation of hearing loss, is also a goal of currently funded research.",30705 +What are the symptoms of Rhabdoid tumor ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Rhabdoid tumor. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Nausea and vomiting 90% Neoplasm of the nervous system 90% Abdominal pain 50% Abnormality of coagulation 50% Abnormality of temperature regulation 50% Abnormality of the skin 50% Behavioral abnormality 50% Cerebral palsy 50% Cranial nerve paralysis 50% Hematuria 50% Hemiplegia/hemiparesis 50% Hydrocephalus 50% Hypertension 50% Incoordination 50% Limitation of joint mobility 50% Lymphadenopathy 50% Macrocephaly 50% Migraine 50% Muscle weakness 50% Neoplasm of the liver 50% Ophthalmoparesis 50% Renal neoplasm 50% Respiratory insufficiency 50% Sarcoma 50% Seizures 50% Sleep disturbance 50% Weight loss 50% Anemia 7.5% Cerebral calcification 7.5% Hypercalcemia 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Choroid plexus carcinoma - Medulloblastoma - Neoplasm of the central nervous system - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30706 +What is (are) Sweat ?,"Sweat is a clear, salty liquid produced by glands in your skin. Sweating is how your body cools itself. You sweat mainly under your arms and on your feet and palms. When sweat mixes with bacteria on your skin, it can cause a smell. Bathing regularly and using antiperspirants or deodorants can help control the odor. Sweating a lot is normal when it is hot or when you exercise, are anxious, or have a fever. It also happens during menopause. If you often sweat too much, it's called hyperhidrosis. Causes include thyroid or nervous system disorders, low blood sugar, or another health problem. Sweating too little, anhidrosis, can be life-threatening because your body can overheat. Causes of anhidrosis include dehydration, burns, and some skin and nerve disorders.",30707 +What are the treatments for familial idiopathic basal ganglia calcification ?,"These resources address the diagnosis or management of FIBGC: - Dystonia Medical Research Foundation: Treatments - Gene Review: Gene Review: Primary Familial Brain Calcification - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 2 - Genetic Testing Registry: Basal ganglia calcification, idiopathic, 4 - Genetic Testing Registry: Idiopathic basal ganglia calcification 1 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care",30708 +Do you have information about Financial Assistance,"Summary : Health care can be costly. If you have health insurance, it usually pays at least part of your medical costs. If you don't have insurance or need help with costs that aren't covered, financial assistance might be available. Certain government programs and nonprofit organizations can help. You can also discuss concerns about paying your medical bills with your health care provider, social worker or the business office of your clinic or hospital.",30709 +Is radiographic loss of contact between radial head fracture fragments moderately reliable?,"Radiographic signs of radial head fracture instability such as loss of contact have moderate reliability. This characteristic seems clinically useful, because loss of contact between at least one radial head fracture fragment and the remaining radial head and neck is strongly associated with associated ligament injury or other fractures.",30710 +Does l-Tryptophan influence acute ventilatory response at moderate altitude?,L-tryptophan does not impair ventilatory adaptation to mild hypoxia at moderate altitude.,30711 +What is (are) Skin Cancer ?,"Key Points + - Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. - There are different types of cancer that start in the skin. - Skin color and being exposed to sunlight can increase the risk of nonmelanoma skin cancer and actinic keratosis. - Nonmelanoma skin cancer and actinic keratosis often appear as a change in the skin. - Tests or procedures that examine the skin are used to detect (find) and diagnose nonmelanoma skin cancer and actinic keratosis. - Certain factors affect prognosis (chance of recovery) and treatment options. + + + Skin cancer is a disease in which malignant (cancer) cells form in the tissues of the skin. + The skin is the bodys largest organ. It protects against heat, sunlight, injury, and infection. Skin also helps control body temperature and stores water, fat, and vitamin D. The skin has several layers, but the two main layers are the epidermis (upper or outer layer) and the dermis (lower or inner layer). Skin cancer begins in the epidermis, which is made up of three kinds of cells: - Squamous cells: Thin, flat cells that form the top layer of the epidermis. - Basal cells: Round cells under the squamous cells. - Melanocytes: Cells that make melanin and are found in the lower part of the epidermis. Melanin is the pigment that gives skin its natural color. When skin is exposed to the sun, melanocytes make more pigment and cause the skin to darken. Skin cancer can occur anywhere on the body, but it is most common in skin that is often exposed to sunlight, such as the face, neck, hands, and arms. + + + There are different types of cancer that start in the skin. + The most common types are basal cell carcinoma and squamous cell carcinoma, which are nonmelanoma skin cancers. Nonmelanoma skin cancers rarely spread to other parts of the body. Melanoma is a much rarer type of skin cancer. It is more likely to invade nearby tissues and spread to other parts of the body. Actinic keratosis is a skin condition that sometimes becomes squamous cell carcinoma. This summary is about nonmelanoma skin cancer and actinic keratosis. See the following PDQ summaries for information on melanoma and other kinds of cancer that affect the skin: - Melanoma Treatment - Mycosis Fungoides and the Szary Syndrome Treatment - Kaposi Sarcoma Treatment - Merkel Cell Carcinoma Treatment - Unusual Cancers of Childhood Treatment - Genetics of Skin Cancer + + + Nonmelanoma skin cancer and actinic keratosis often appear as a change in the skin. + Not all changes in the skin are a sign of nonmelanoma skin cancer or actinic keratosis. Check with your doctor if you notice any changes in your skin. Signs of nonmelanoma skin cancer include the following: - A sore that does not heal. - Areas of the skin that are: - Raised, smooth, shiny, and look pearly. - Firm and look like a scar, and may be white, yellow, or waxy. - Raised, and red or reddish-brown. - Scaly, bleeding or crusty.",30712 +What is (are) Hearing Disorders and Deafness ?,"It's frustrating to be unable to hear well enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to hear. They can often be helped. Deafness can keep you from hearing sound at all. What causes hearing loss? Some possibilities are - Heredity - Diseases such as ear infections and meningitis - Trauma - Certain medicines - Long-term exposure to loud noise - Aging There are two main types of hearing loss. One happens when your inner ear or auditory nerve is damaged. This type is usually permanent. The other kind happens when sound waves cannot reach your inner ear. Earwax build-up, fluid, or a punctured eardrum can cause it. Treatment or surgery can often reverse this kind of hearing loss. Untreated, hearing problems can get worse. If you have trouble hearing, you can get help. Possible treatments include hearing aids, cochlear implants, special training, certain medicines, and surgery. NIH: National Institute on Deafness and Other Communication Disorders",30713 +what research (or clinical trials) is being done for Skin Cancer ?,"The National Cancer Institute has developed a comprehensive online cancer database called the Physician Data Query (PDQ) to present evidence from the most recent research on melanoma and other skin cancers. Click here to see the PDQ. A window will open. Click the ""x"" in the upper right hand corner of the ""PDQ"" window to return here.",30714 +Is high folate intake related to better academic achievement in Swedish adolescents?,"Folate intake had a positive association with academic achievement in the 15-year-olds, which was not attenuated by SES or MTHFR 677 TT homozygosity. These results provide new information that points to the importance of keeping a closer watch on folate status in childhood and adolescence. They may also have direct implications for school meal provisions, school teaching programs, and information to parents.",30715 +What is (are) Kidney Stones in Children ?,"A kidney stone is a solid piece of material that forms in a kidney when substances that are normally found in the urine become highly concentrated. A stone may stay in the kidney or travel down the urinary tract. Kidney stones vary in size. A small stone may pass out of the body causing little or no pain. A larger stone may get stuck along the urinary tract and can block the flow of urine, causing severe pain or blood that can be seen in the urine.",30716 +How to diagnose Mastocytic enterocolitis ?,"Mastocytic enterocolitis is diagnosed after an endoscopic procedure in which the doctor takes samples of tissues (biopsies) from the lining of the intestines. The tissue is then sent to a pathologist who looks at it under the microscope. Mast cells may be hard to see on biopsies without a special stain for tryptase, an enzyme present in mast cells. Mastocytic enterocolitis is diagnosed when excess mast cells are present in the small bowel or the colon.",30717 +What is (are) Kawasaki disease ?,"Kawasaki disease is a sudden and time-limited (acute) illness that affects infants and young children. Affected children develop a prolonged fever lasting several days, a skin rash, and swollen lymph nodes in the neck (cervical lymphadenopathy). They also develop redness in the whites of the eyes (conjunctivitis) and redness (erythema) of the lips, lining of the mouth (oral mucosa), tongue, palms of the hands, and soles of the feet. Without treatment, 15 to 25 percent of individuals with Kawasaki disease develop bulging and thinning of the walls of the arteries that supply blood to the heart muscle (coronary artery aneurysms) or other damage to the coronary arteries, which can be life-threatening.",30718 +Does [ Analysis of laboratory tests result for Salmonella infections performed since 2008 to 2014 in Poland ]?,"The reason of decreased number of performed SS test and positive Salmonella results is unclear. One of theories is decreased level of quality of SS diagnostic. From the other hand, decreased number of false-positive Salmonella identification outside of National Sanitary Inspection laboratories is observed. This demonstrates improving quality of Salmo nella diagnostic in laboratories performing such tests. High disproportion between number of Salmonella cases in described database and official notification system is observed. It comes from, that both systems collect different data. Both systems could exist independently and could supplement each-other.",30719 +Does faster Reaching in Chronic Spastic Stroke Patients come at the Expense of Arm-Trunk Coordination?,Faster speed may encourage some patients to use compensation. Individual indications for therapy could be based on a quantitative analysis of reaching coordination.,30720 +What are the treatments for Shaken Baby Syndrome ?,"Emergency treatment for a baby who has been shaken usually includes life-sustaining measures such as respiratory support and surgery to stop internal bleeding and bleeding in the brain. Doctors may use brain scans, such as MRI and CT, to make a more definite diagnosis.",30721 +Is long-term use of angiotensin converting enzyme inhibitors associated with decreased incidence of advanced adenomatous colon polyps?,"The use of lisinopril was associated with a 41% reduction in the incidence of advanced APs during a period of 3 to 5 years, even after adjustment for other known polyp risk factors. We speculate that long-term ACE inhibitors use may reduce the development of CRCs by reducing the development of advanced APs.",30722 +Is pre-surgical cortical activation to food pictures associated with weight loss following bariatric surgery?,We found that neural activity in previously established regions associated with cognitive and behavioral self-regulation predicts weight loss following bariatric surgery. These preliminary findings highlight the role of neural circuitry in the success and maintenance of weight loss and suggest a possible future use of fMRI in screening LAGB surgery candidates.,30723 +Does overexpression of Peroxiredoxin 4 affect Intestinal Function in a Dietary Mouse Model of Nonalcoholic Fatty Liver Disease?,"Our present data provide the first evidence of the beneficial effects of PRDX4 on intestinal function in the reduction of the severity of NAFLD, by ameliorating oxidative stress-induced local and systemic injury. We can suggest that both liver and intestine are spared, to some degree, by the antioxidant properties of PRDX4.",30724 +What is (are) Acrodysplasia scoliosis ?,"Acrodysplasia scoliosis is a rare condition that has been reported in two brothers. The condition is characterized by scoliosis, brachydactyly (unusually short fingers and toes), spina bifida occulta, and carpal synostosis (fused bones of the wrist). The underlying genetic cause of the condition is unknown, but it appears to be inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.",30725 +Is serum prolidase activity associated with non-diabetic metabolic syndrome?,Prolidase activity may have a role in the pathogenesis of metabolic syndrome.,30726 +What is (are) Vohwinkel syndrome ?,"Vohwinkel syndrome is a disorder with classic and variant forms, both of which affect the skin. In the classic form of Vohwinkel syndrome, affected individuals have thick, honeycomb-like calluses on the palms of the hands and soles of the feet (palmoplantar keratoses) beginning in infancy or early childhood. Affected children also typically have distinctive starfish-shaped patches of thickened skin on the tops of the fingers and toes or on the knees. Within a few years they develop tight bands of abnormal fibrous tissue around their fingers and toes (pseudoainhum); the bands may cut off the circulation to the digits and result in spontaneous amputation. People with the classic form of the disorder also have hearing loss. The variant form of Vohwinkel syndrome does not involve hearing loss, and the skin features also include widespread dry, scaly skin (ichthyosis), especially on the limbs. The ichthyosis is usually mild, and there may also be mild reddening of the skin (erythroderma). Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life.",30727 +Do mIG-10/lamellipodin and AGE-1/PI3K promote axon guidance and outgrowth in response to slit and netrin?,"mig-10 and unc-34 organize intracellular responses to both attractive and repulsive axon guidance cues. mig-10 and age-1 lipid signaling promote axon outgrowth; unc-34 and to a lesser extent mig-10 promote filopodia formation. Surprisingly, filopodia are largely dispensable for accurate axon guidance.",30728 +Are adapted versions of the Sharp/van der Heijde score reliable and valid for assessment of radiographic progression in juvenile idiopathic arthritis?,Our results show that the adapted versions of the Sharp/van der Heijde score are reliable and valid for the assessment of radiographic progression in patients with JIA.,30729 +Does enzymatic activity of circulating proteasomes correlate with clinical behavior in patients with chronic lymphocytic leukemia?,"The current results indicated that measuring plasma proteasome activity has prognostic value in CLL that, when combined with B2M, can be independent of IgVH mutation status.",30730 +What is (are) Bone Cancer ?,"Cancer that starts in a bone is uncommon. Cancer that has spread to the bone from another part of the body is more common. There are three types of bone cancer: - Osteosarcoma - occurs most often between ages 10 and 19. It is more common in the knee and upper arm. - Chondrosarcoma - starts in cartilage, usually after age 40 - Ewing's sarcoma - occurs most often in children and teens under 19. It is more common in boys than girls. The most common symptom of bone cancer is pain. Other symptoms vary, depending on the location and size of the cancer. Surgery is often the main treatment for bone cancer. Other treatments may include amputation, chemotherapy, and radiation therapy. Because bone cancer can come back after treatment, regular follow-up visits are important. NIH: National Cancer Institute",30731 +"What are the symptoms of Alopecia, epilepsy, pyorrhea, mental subnormality ?","The Human Phenotype Ontology provides the following list of signs and symptoms for Alopecia, epilepsy, pyorrhea, mental subnormality. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the eyelashes 90% Abnormality of the teeth 90% Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% EEG abnormality 90% Gingivitis 90% Memory impairment 90% Seizures 50% Hearing impairment 7.5% Hydrocephalus 7.5% Melanocytic nevus 7.5% Alopecia universalis - Autosomal dominant inheritance - Congenital alopecia totalis - Intellectual disability, mild - Periodontitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30732 +"What are the genetic changes related to congenital deafness with labyrinthine aplasia, microtia, and microdontia ?","LAMM syndrome is caused by mutations in the FGF3 gene, which provides instructions for making a protein called fibroblast growth factor 3 (FGF3). By attaching to another protein known as a receptor, the FGF3 protein triggers a cascade of chemical reactions inside the cell that signal the cell to undergo certain changes, such as dividing or maturing to take on specialized functions. During development before birth, the signals triggered by the FGF3 protein stimulate cells to form the structures that make up the inner ears. The FGF3 protein is also involved in the development of many other organs and structures, including the outer ears and teeth. FGF3 gene mutations involved in LAMM syndrome alter the FGF3 protein. The altered protein likely has reduced or absent function and is unable to stimulate signaling. The loss of FGF3 function impairs development of the ears and teeth, which leads to the characteristic features of LAMM syndrome.",30733 +What are the treatments for hypomyelination and congenital cataract ?,These resources address the diagnosis or management of hypomyelination and congenital cataract: - Gene Review: Gene Review: Hypomyelination and Congenital Cataract - Genetic Testing Registry: Hypomyelination and Congenital Cataract - MedlinePlus Encyclopedia: Congenital Cataract - MedlinePlus Encyclopedia: Muscle Atrophy These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30734 +Does discriminatory proteomic biomarker analysis identify free hemoglobin in the cerebrospinal fluid of women with severe preeclampsia?,Proteomic analysis of CSF can accurately distinguish sPE from both mPE and CRL. Patients with sPE have nanomolar amounts of free hemoglobin in their CSF. Further studies are needed to confirm these observations and determine their physiologic implications.,30735 +What is (are) myasthenia gravis ?,"Myasthenia gravis is a disorder that causes weakness of the skeletal muscles, which are muscles that the body uses for movement. The weakness most often starts in the muscles around the eyes, causing drooping of the eyelids (ptosis) and difficulty coordinating eye movements, which results in blurred or double vision. In a form of the disorder called ocular myasthenia, the weakness remains confined to the eye muscles. In most people with myasthenia gravis, however, additional muscles in the face and neck are affected. Affected individuals may have unusual facial expressions, difficulty holding up the head, speech impairment (dysarthria), and chewing and swallowing problems (dysphagia) that may lead to choking, gagging, or drooling. Other muscles in the body are also affected in some people with myasthenia gravis. The muscles of the arms and legs may be involved, causing affected individuals to have changes in their gait or trouble with lifting objects, rising from a seated position, or climbing stairs. The muscle weakness tends to fluctuate over time; it typically worsens with activity and improves with rest. Weakness of the muscles in the chest wall and the muscle that separates the abdomen from the chest cavity (the diaphragm) can cause breathing problems in some people with myasthenia gravis. About 10 percent of people with this disorder experience a potentially life-threatening complication in which these respiratory muscles weaken to the point that breathing is dangerously impaired, and the affected individual requires ventilation assistance. This respiratory failure, called a myasthenic crisis, may be triggered by stresses such as infections or reactions to medications. People can develop myasthenia gravis at any age. For reasons that are unknown, it is most commonly diagnosed in women younger than age 40 and men older than age 60. It is uncommon in children, but some infants born to women with myasthenia gravis show signs and symptoms of the disorder for the first few days or weeks of life. This temporary occurrence of symptoms is called transient neonatal myasthenia gravis.",30736 +What are the complications of Ulcerative Colitis ?,"Complications of ulcerative colitis can include + +- rectal bleedingwhen ulcers in the intestinal lining open and bleed. Rectal bleeding can cause anemia, which health care providers can treat with diet changes and iron supplements. People who have a large amount of bleeding in the intestine over a short period of time may require surgery to stop the bleeding. Severe bleeding is a rare complication of ulcerative colitis. - dehydration and malabsorbtion, which occur when the large intestine is unable to absorb fluids and nutrients because of diarrhea and inflammation. Some people may need IV fluids to replace lost nutrients and fluids. - changes in bones. Some corticosteroid medications taken to treat ulcerative colitis symptoms can cause - osteoporosisthe loss of bone - osteopenialow bone density + +Health care providers will monitor people for bone loss and can recommend calcium and vitamin D supplements and medications to help prevent or slow bone loss. + +- inflammation in other areas of the body. The immune system can trigger inflammation in the - joints - eyes - skin - liver + +Health care providers can treat inflammation by adjusting medications or prescribing new medications. + +- megacolona serious complication that occurs when inflammation spreads to the deep tissue layers of the large intestine. The large intestine swells and stops working. Megacolon can be a life-threatening complication and most often requires surgery. Megacolon is a rare complication of ulcerative colitis. + + + +Ulcerative Colitis and Colon Cancer People with ulcerative colitis may be more likely to develop colon cancer when - ulcerative colitis affects the entire colon - a person has ulcerative colitis for at least 8 years - inflammation is ongoing - people also have primary sclerosing cholangitis, a condition that affects the liver - a person is male People who receive ongoing treatment and remain in remission may reduce their chances of developing colon cancer. People with ulcerative colitis should talk with their health care provider about how often they should get screened for colon cancer. Screening can include colonoscopy with biopsies or a special dye spray called chromoendoscopy. Health care providers may recommend colonoscopy every 1 to 3 years for people with ulcerative colitis who have - the disease in one-third or more or of their colon - had ulcerative colitis for 8 years Such screening does not reduce a person's chances of developing colon cancer. Instead, screening can help diagnose cancer early and improve chances for recovery. Surgery to remove the entire colon eliminates the risk of colon cancer.",30737 +What are the treatments for Barraquer-Simons syndrome ?,"Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques. No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status. If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure.",30738 +Is premature ejaculation associated with glycemic control in Type 1 diabetes?,"Our results show a similar prevalence of PE in young male patients with Type 1 diabetes and in the age-matched control population; in diabetic patients with PE, a higher glycemic variability in the hypoglycemic domain is significantly associated with the PEDT score.",30739 +What are the genetic changes related to Stickler syndrome ?,"Mutations in several genes cause the different types of Stickler syndrome. Between 80 and 90 percent of all cases are classified as type I and are caused by mutations in the COL2A1 gene. Another 10 to 20 percent of cases are classified as type II and result from mutations in the COL11A1 gene. Marshall syndrome, which may be a variant of Stickler syndrome, is also caused by COL11A1 gene mutations. Stickler syndrome types III through VI result from mutations in other, related genes. All of the genes associated with Stickler syndrome provide instructions for making components of collagens, which are complex molecules that give structure and strength to the connective tissues that support the body's joints and organs. Mutations in any of these genes impair the production, processing, or assembly of collagen molecules. Defective collagen molecules or reduced amounts of collagen impair the development of connective tissues in many different parts of the body, leading to the varied features of Stickler syndrome. Not all individuals with Stickler syndrome have mutations in one of the known genes. Researchers believe that mutations in other genes may also cause this condition, but those genes have not been identified.",30740 +Do gastric cancers of the microsatellite mutator phenotype display characteristic genetic and clinical features?,Analysis of somatic alterations in microsatellite sequences and in cancer genes target for the MMP is useful for the classification of groups of gastric cancers with different prognosis. The results further support the concept that (gastric) cancer of the MMP represents a distinctive oncogenic pathway because the mutated cancer genes are usually different from those found in tumors without the MMP.,30741 +what research (or clinical trials) is being done for Rectal Cancer ?,"Other types of treatment are being tested in clinical trials. + Information about clinical trials is available from the NCI website. + + + Patients may want to think about taking part in a clinical trial. + For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment. Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment. Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward. + + + Patients can enter clinical trials before, during, or after starting their cancer treatment. + Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment. Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.",30742 +What are the symptoms of Hereditary sensory neuropathy type 1 ?,"The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory neuropathy type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the skin - Areflexia - Autoamputation (feet) - Autosomal dominant inheritance - Chronic axonal neuropathy - Decreased number of large peripheral myelinated nerve fibers - Decreased sensory nerve conduction velocity - Distal muscle weakness - Distal sensory impairment - Distal sensory loss of all modalities - Hyporeflexia - Osteomyelitis - Osteomyelitis or necrosis, distal, due to sensory neuropathy (feet) - Pes cavus - Sensorineural hearing impairment - Skeletal muscle atrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.",30743 +Does autologous peripheral blood mononuclear cell implantation for patients with peripheral arterial disease improve limb ischemia?,Implantation of PBMNCs collected after G-CSF administration could be an alternative to therapeutic angioplasty in patients with severe peripheral arterial disease.,30744 +Is Vohwinkel syndrome inherited ?,"This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.",30745 +Is public perception of epilepsy in dogs more favorable than in humans?,"These findings shed light on the variation in perceptions of seizures in dogs, which are interestingly more sympathetic towards dogs with epilepsy than towards humans with epilepsy. This highlights the potential future use of YouTube in investigating public views as well as in informing and educating.",30746 +What are the symptoms of High Blood Cholesterol ?,"High blood cholesterol usually has no signs or symptoms. Thus, many people don't know that their cholesterol levels are too high. + +If you're 20 years old or older, have your cholesterol levels checked at least once every 5 years. Talk with your doctor about how often you should be tested.",30747 +Is nasal sumatriptan effective in treatment of migraine attacks in children : A randomized trial?,Nasal sumatriptan is an effective and well-tolerated treatment for migraine attacks in children over 8 years of age.,30748 +Does song exposure regulate known and novel microRNAs in the zebra finch auditory forebrain?,"The experience of hearing another bird singing alters the profile of miRNAs in the auditory forebrain of zebra finches. The response involves both known conserved miRNAs and novel miRNAs described so far only in the zebra finch, including a novel sex-linked, song-responsive miRNA. These results indicate that miRNAs are likely to contribute to the unique behavioural biology of learned song communication in songbirds.",30749 +Do the onset and duration of mobilization affect the regeneration in the rat muscle?,"the regeneration process is related to the onset of exercise, since animals submitted to early mobilization showed improved regeneration when comparted to LM groups. Besides, the length of session is also important for accelerating the regeneration process, as it was observed that 45 minutes was better than 15 minutes duration.",30750 +Do patients with neuroglycopenia after gastric bypass surgery have exaggerated incretin and insulin secretory responses to a mixed meal?,A robust insulin secretory response was associated with postprandial hypoglycemia in patients after GB presenting with NG. Increased incretin levels may contribute to the increased insulin secretory response.,30751 +Does coadministration of interleukins 7 and 15 with bacille Calmette-Guérin mount enduring T cell memory response against Mycobacterium tuberculosis?,Our results indicate that supplementation of the BCG vaccine with IL-7 and IL-15 would substantially improve its efficacy by enhancing the T cell memory response.,30752 +Does stress enhance airway reactivity and airway inflammation in an animal model of allergic bronchial asthma?,"We found further evidence that stress can indeed exacerbate airway hyperreactivity and airway inflammation in an animal model of allergic bronchial asthma and now introduce a novel murine model to identify stress-triggered pathways, including mediators as neurohormones, neuropeptides, and markers of inflammation.",30753 +What are the treatments for Vesicoureteral Reflux ?,"Secondary VUR is treated by removing the blockage causing the reflux. Treatment may involve + +- surgery - antibiotics - intermittent catheterizationdraining the bladder by inserting a thin tube, called a catheter, through the urethra to the bladder",30754 +Do plantar pressures in children with and without sever 's disease?,"high plantar foot pressures are associated with Sever's disease, although it is unclear whether they are a predisposing factor or a result of the condition. Gastrocnemius equinus may be a predisposing factor for Sever's disease. Further research is needed to identify other factors involved in the disease and to better understand the factors that contribute to abnormal distribution of body weight in the lower limbs.",30755 +What are the treatments for sepiapterin reductase deficiency ?,These resources address the diagnosis or management of sepiapterin reductase deficiency: - Gene Review: Gene Review: Sepiapterin Reductase Deficiency - Genetic Testing Registry: Sepiapterin reductase deficiency These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation - Genetic Counseling - Palliative Care,30756 +What is (are) Bartter syndrome ?,"Bartter syndrome is a group of similar kidney disorders that cause an imbalance of potassium, sodium, chloride, and other molecules in the body. In some cases, the condition manifests before birth with increased amniotic fluid surrounding the affected fetus (polyhydramnios). Affected infants typically do not grow and gain wait as expected. Dehydration, constipation and increased urine production result from losing too much salt (sodium chloride) in the urine, and weakening of the bones can occur due to excess loss of calcium. Low levels of potassium in the blood (hypokalemia) can cause muscle weakness, cramping, and fatigue. It is caused by mutations in any one of at least 5 genes and is inherited in an autosomal recessive manner. The different types of Bartter syndrome are classified according to the specific gene that causes the condition. Treatment depends on the type of the syndrome present but chiefly focuses on preventing the loss of too much potassium from the body.",30757 +Is coffee consumption associated with increased risk of atrial fibrillation : results from two prospective cohorts and a meta-analysis?,We found no evidence that coffee consumption is associated with increased risk of AF.,30758 +Does neuron-specific prolyl-4-hydroxylase domain 2 knockout reduce brain injury after transient cerebral ischemia?,Our findings denote that the endogenous adaptive response on hypoxic-ischemic insults in the brain is at least partly dependent on the activity of HIFs and identify PHD2 as the key regulator for the protective hypoxia response. The results suggest that specific inhibition of PHD2 may provide a useful therapeutic strategy to protect brain tissue from ischemic injury.,30759 +Is concurrent ganirelix and follitropin beta therapy an effective and safe regimen for ovulation induction in women with polycystic ovary syndrome?,"In this preliminary study, we demonstrate the effectiveness of a concurrent ganirelix and follitropin-beta therapy for ovarian stimulation in women with PCOS.",30760 +What is (are) Proximal symphalangism ?,"Proximal symphalangism, which is also called Cushing's symphalangism, is a rare genetic condition characterized by the fusion of the proximal joints in the hands and feet. These individuals usually have straight fingers and are unable to make a fist. Other joints may also be affected, leading to stiff joints in the elbows, ankles and wrists. Hearing loss due to the fusion of the auditory ossicles (bones in the middle ear) is also a characteristic feature. This condition is inherited in an autosomal dominant pattern and is caused by a mutation in the NOG gene or GDF5 gene.",30761 +Is interleukin-12 associated with arterial stiffness in healthy individuals?,"IL-12, but not IL-18, is associated with PWV in healthy individuals without clinical CVD, supporting a role for IL-12 in early atherosclerosis as suggested by animal studies.",30762 +Does reduced lymph node yield in rectal carcinoma specimen after neoadjuvant radiochemotherapy have no prognostic relevance?,The UICC/AJCC criterion of a total lymph node yield of 12 or more should be revised for rectal carcinoma patients.,30763 +What are the treatments for Pseudoangiomatous stromal hyperplasia ?,"Surgical removal of the PASH lesions has been performed in some individuals. A wide margin around the mass may be removed to prevent recurrence. Although PASH lesions often grow over time and may recur, they are neither associated with malignancy (cancer) nor considered to be premalignant (pre-cancerous). According to the medical text, CONN's Current Therapy 2007, approximately 7 percent of people experience a recurrence of PASH.",30764 +What are the treatments for Prurigo nodularis ?,"Prurigo nodularis can be challenging to treat. Due to the intensity of the itch patients may go from doctor to doctor without receiving much relief. Treatment may vary from person to person, as no one treatment is always effective at alleviating symptoms. Several treatments may need to be tried. You can read further treatment information by visiting the American Osteopathic College of Dermatology (ACOD) information page on prurigo nodularis. Click here to view the page from the ACOD.",30765 +Does neonatal vaccination with Bacillus Calmette-Guérin elicit long-term protection in mouse-allergic responses?,"Our data suggest that neonatal BCG vaccination has a long-term effect on inhibiting AHR and eosinophilia, which is associated with the modulation of Th1/Th2 cytokine production in early-, but not in late-challenged mice. Thus, different mechanisms may mediate the long-term protective effect of BCG neonatal vaccination differently in younger adult and aged mice.",30766 +What are the genetic changes related to COG5-congenital disorder of glycosylation ?,"COG5-CDG is caused by mutations in the COG5 gene, which provides instructions for making one piece of a group of proteins known as the conserved oligomeric Golgi (COG) complex. This complex functions in the Golgi apparatus, which is a cellular structure in which newly produced proteins are modified. One process that occurs in the Golgi apparatus is glycosylation, by which sugar molecules (oligosaccharides) are attached to proteins and fats. Glycosylation modifies proteins so they can perform a wider variety of functions. The COG complex takes part in the transport of proteins, including those that perform glycosylation, in the Golgi apparatus. COG5 gene mutations reduce the amount of COG5 protein or eliminate it completely, which disrupts protein transport. This disruption results in abnormal protein glycosylation, which can affect numerous body systems, leading to the signs and symptoms of COG5-CDG. The severity of COG5-CDG is related to the amount of COG5 protein that remains in cells.",30767 +Does geranylgeranylacetone inhibit melanin synthesis via ERK activation in Mel-Ab cells?,These findings suggest that activation of ERK by GGA reduces melanin synthesis in Mel-Ab cells through downregulation of MITF and tyrosinase expression.,30768 +Does the effect of stimulating versus nonstimulating catheters for continuous interscalene plexus block in short-term pain management?,Stimulating catheters for interscalene plexus blocks improve postoperative analgesia at rest in patients undergoing shoulder surgery.,30769 +Does myrtenal attenuate diethylnitrosamine-induced hepatocellular carcinoma in rats by stabilizing intrinsic antioxidants and modulating apoptotic and anti-apoptotic cascades?,It is concluded that myrtenal exhibits excellent free radical scavenging activity and anticancer activity through the suppression of hepatocellular carcinoma in wistar rats. Thereby giving a positive insight to take this compound as an effective therapeutic agent against hepatoma.,30770 +What is (are) multiple system atrophy ?,"Multiple system atrophy is a progressive brain disorder that affects movement and balance and disrupts the function of the autonomic nervous system. The autonomic nervous system controls body functions that are mostly involuntary, such as regulation of blood pressure. Researchers have described two major types of multiple system atrophy, which are distinguished by their major signs and symptoms at the time of diagnosis. In one type, known as MSA-P, a group of movement abnormalities called parkinsonism are predominant. These abnormalities include unusually slow movement (bradykinesia), muscle rigidity, tremors, and an inability to hold the body upright and balanced (postural instability). The other type of multiple system atrophy, known as MSA-C, is characterized by cerebellar ataxia, which causes problems with coordination and balance. This form of the condition can also include speech difficulties (dysarthria) and problems controlling eye movement. Both forms of multiple system atrophy are associated with abnormalities of the autonomic nervous system. The most frequent autonomic symptoms associated with multiple system atrophy are a sudden drop in blood pressure upon standing (orthostatic hypotension), urinary difficulties, and erectile dysfunction in men. Multiple system atrophy usually occurs in older adults; on average, signs and symptoms appear around age 55. The signs and symptoms of the condition worsen with time, and affected individuals survive an average of 9 years after their diagnosis.",30771 +What is (are) Platelet storage pool deficiency ?,"Platelet storage pool deficiency refers to a group of conditions that are caused by problems with the platelet granules. Platelet granules are tiny storage sacs found within the platelets which release various substances to help stop bleeding. Platelet storage pool deficiencies occur when platelet granules are absent, reduced in number, or unable to empty their contents into the bloodstream. The signs and symptoms include frequent nosebleeds; abnormally heavy or prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding after surgery, dental work or childbirth. Platelet storage pool deficiencies may be genetic or acquired (non-genetic). They can also be part of an inherited genetic syndrome such as Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich syndrome. Treatment is symptomatic.",30772 +What is (are) Diabetic Retinopathy ?,"Can Cause Vision Loss, Blindness Diabetic retinopathy is a complication of diabetes and a leading cause of blindness. It occurs when diabetes damages the tiny blood vessels inside the retina in the back of the eye. A healthy retina is necessary for good vision. If you have diabetic retinopathy, at first you may notice no changes to your vision. But over time, diabetic retinopathy can get worse and cause vision loss. Diabetic retinopathy usually affects both eyes. Four Stages The four stages of diabetic retinopathy are - mild nonproliferative retinopathy - moderate nonproliferative retinopathy - severe nonproliferative retinopathy - proliferative retinopathy. mild nonproliferative retinopathy moderate nonproliferative retinopathy severe nonproliferative retinopathy proliferative retinopathy. The first stage is mild nonproliferative retinopathy. At this earliest stage, there are small areas of balloon-like swelling in the retina's tiny blood vessels. The second stage is moderate nonproliferative retinopathy. As the disease progresses, some blood vessels that nourish the retina are blocked. The third stage is severe nonproliferative retinopathy. Many more blood vessels are blocked, depriving several areas of the retina of their blood supply. These areas send signals to the body to grow new blood vessels for nourishment. The fourth stage is proliferative retinopathy. At this advanced stage, the signals sent by the retina for nourishment cause the growth of new blood vessels. These new blood vessels are abnormal and fragile. The new blood vessels grow along the retina and along the surface of the clear, vitreous gel that fills the inside of the eye. By themselves, these blood vessels do not cause symptoms or vision loss. However, they have thin, fragile walls. If they leak blood, severe vision loss and even blindness can result. Other Diabetic Eye Diseases In addition to diabetic retinopathy, other diabetic eye diseases that people with diabetes may face are cataract and glaucoma. See this graphic for a quick overview of diabetic eye disease, including how many people it affects, whos at risk, what to do if you have it, and how to learn more.",30773 +What is (are) Polycystic Kidney Disease ?,"Autosomal dominant PKD is the most common form of PKD and the most common inherited disorder of the kidneys.3 The term autosomal dominant means a child can get the disorder by inheriting the gene mutation from only one parent. Each child of a parent with an autosomal dominant mutation has a 50 percent chance of inheriting the mutated gene. About 10 percent of autosomal dominant PKD cases occur spontaneously.4 + +The following chart shows the chance of inheriting an autosomal dominant gene mutation: + + + + + +Health care providers identify most cases of autosomal dominant PKD between the ages of 30 and 50.4 For this reason, health care providers often call autosomal dominant PKD adult PKD. However, the onset of kidney damage and how quickly the disorder progresses varies. In some cases, cysts may form earlier in life and grow quickly, causing symptoms in childhood. + + + + + +The cysts grow out of nephrons, the tiny filtering units inside the kidneys. The cysts eventually separate from the nephrons and continue to enlarge. The kidneys enlarge along with the cystswhich can number in the thousandswhile roughly retaining their kidney shape. In fully developed autosomal dominant PKD, a cyst-filled kidney can weigh as much as 20 to 30 pounds.",30774 +Does dual PI3K/mTOR inhibitor BEZ235 exert extensive antitumor activity in HER2-positive gastric cancer?,"The present study has demonstrated, for the first time, the antitumor activity of BEZ235 against HER2-positive gastric cancer in patient-derived xenografts, as well its synergistic interaction with trastuzumab. These important findings can be utilized to facilitate the design of future clinical trials.",30775 +Do patients with diabetic retinopathy have high retinal venous pressure?,"Regardless of the cause, a marked increase in RVP in diabetes patients with DR is clinically relevant, as it reduces perfusion pressure and increases transmural pressure. The reduced perfusion pressure contributes to hypoxia, and the increased transmural pressure can facilitate retinal edema. Diabetes is an increasing burden, and DR is one of its most severe complications. Strategies to recognize the risk for DR and to develop personalized prevention and therapy therefore have major implications.",30776 +What are the genetic changes related to adenosine deaminase deficiency ?,"Adenosine deaminase deficiency is caused by mutations in the ADA gene. This gene provides instructions for producing the enzyme adenosine deaminase. This enzyme is found throughout the body but is most active in specialized white blood cells called lymphocytes. These cells protect the body against potentially harmful invaders, such as bacteria and viruses, by making immune proteins called antibodies or by directly attacking infected cells. Lymphocytes are produced in specialized lymphoid tissues including the thymus, which is a gland located behind the breastbone, and lymph nodes, which are found throughout the body. Lymphocytes in the blood and in lymphoid tissues make up the immune system. The function of the adenosine deaminase enzyme is to eliminate a molecule called deoxyadenosine, which is generated when DNA is broken down. Adenosine deaminase converts deoxyadenosine, which can be toxic to lymphocytes, to another molecule called deoxyinosine that is not harmful. Mutations in the ADA gene reduce or eliminate the activity of adenosine deaminase and allow the buildup of deoxyadenosine to levels that are toxic to lymphocytes. Immature lymphocytes in the thymus are particularly vulnerable to a toxic buildup of deoxyadenosine. These cells die before they can mature to help fight infection. The number of lymphocytes in other lymphoid tissues is also greatly reduced. The loss of infection-fighting cells results in the signs and symptoms of SCID.",30777