Datasets:

nihal-mp

/

erkamd-human_assistant-llama2-1k

like 0

<s>[INST] Human: What is (are) Urinary Tract Infection In Adults ? [/INST] Assistant: A UTI is an infection in the urinary tract. Infections are caused by microbesorganisms too small to be seen without a microscopeincluding fungi, viruses, and bacteria. Bacteria are the most common cause of UTIs. Normally, bacteria that enter the urinary tract are rapidly removed by the body before they cause symptoms. However, sometimes bacteria overcome the bodys natural defenses and cause infection. An infection in the urethra is called urethritis. A bladder infection is called cystitis. Bacteria may travel up the ureters to multiply and infect the kidneys. A kidney infection is called pyelonephritis. </s>

<s>[INST] Human: What are the symptoms of Aortic arch anomaly - peculiar facies - intellectual disability ? [/INST] Assistant: What are the signs and symptoms of Aortic arch anomaly - peculiar facies - intellectual disability? The Human Phenotype Ontology provides the following list of signs and symptoms for Aortic arch anomaly - peculiar facies - intellectual disability. 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) Broad forehead 90% Carious teeth 90% Cognitive impairment 90% Convex nasal ridge 90% Downturned corners of mouth 90% Facial asymmetry 90% Low-set, posteriorly rotated ears 90% Macrotia 90% Narrow mouth 90% Overriding aorta 90% Prominent nasal bridge 90% Triangular face 90% Arteriovenous malformation 50% Microcephaly 50% Abnormality of the hip bone 7.5% Behavioral abnormality 7.5% Genu varum 7.5% Hypoplasia of the zygomatic bone 7.5% Intrauterine growth retardation 7.5% Mandibular prognathia 7.5% Muscular hypotonia 7.5% Abnormal facial shape - Autosomal dominant inheritance - Intellectual disability - Right aortic arch with mirror image branching - 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. </s>

<s>[INST] Human: What are the treatments for Laryngeal cleft ? [/INST] Assistant: How might laryngeal cleft be treated? Medical and feeding therapies are often the first treatments for patients with laryngeal cleft (particularly type I and type II).[4126] Prevention of gastroesophageal reflux is also important in all types of clefts. Type I clefts often correct themselves over time with growth. During infancy, nursing in the upright position or thickening of formula may be necessary. If these treatments are not enough, surgery may be recommended. Different surgical approaches have been proposed for the management of laryngeal cleft. The timing and approach of surgery may differ depending upon the severity of symptoms, associated abnormalities, and type of cleft. </s>

<s>[INST] Human: What are the treatments for Hemochromatosis ? [/INST] Assistant: Treatments for hemochromatosis include therapeutic phlebotomy (fleh-BOT-o-me), iron chelation (ke-LAY-shun) therapy, dietary changes, and treatment for complications. The goals of treating hemochromatosis include: Reducing the amount of iron in your body to normal levels Preventing or delaying organ damage from iron overload Treating complications of the disease Maintaining a normal amount of iron in your body for the rest of your life Therapeutic Phlebotomy Therapeutic phlebotomy is a procedure that removes blood (and iron) from your body. A needle is inserted into a vein, and your blood flows through an airtight tube into a sterile container or bag. The process is similar to donating blood; it can be done at blood donation centers, hospital donation centers, or a doctor's office. In the first stage of treatment, about 1 pint of blood is removed once or twice a week. After your iron levels return to normal, you may continue phlebotomy treatments. However, you may need them less oftentypically every 24 months. As long as treatment continues, which often is for the rest of your life, you'll need frequent blood tests to check your iron levels. Iron Chelation Therapy Iron chelation therapy uses medicine to remove excess iron from your body. This treatment is a good option for people who can't have routine blood removal. The medicine used in iron chelation therapy is either injected or taken orally (by mouth). Injected iron chelation therapy is done at a doctor's office. Oral iron chelation therapy can be done at home. Dietary Changes Your doctor may suggest that you change your diet if you have hemochromatosis. You may be advised to: Avoid taking iron, including iron pills, iron injections, or multivitamins that contain iron. Limit your intake of vitamin C. Vitamin C helps your body absorb iron from food. Talk with your doctor about how much vitamin C is safe for you. Avoid uncooked fish and shellfish. Some fish and shellfish contain bacteria that can cause infections in people who have chronic diseases, such as hemochromatosis. Limit alcohol intake. Drinking alcohol increases the risk of liver disease. It also can make existing liver disease worse. Treatment for Complications Your doctor may prescribe other treatments as needed for complications such as liver disease, heart problems, or diabetes. </s>

<s>[INST] Human: What are the genetic changes related to X-linked hyper IgM syndrome ? [/INST] Assistant: Mutations in the CD40LG gene cause X-linked hyper IgM syndrome. This gene provides instructions for making a protein called CD40 ligand, which is found on the surface of immune system cells known as T cells. CD40 ligand attaches like a key in a lock to its receptor protein, which is located on the surface of immune system cells called B cells. B cells are involved in the production of antibodies, and initially they are able to make only IgM antibodies. When CD40 ligand and its receptor protein are connected, they trigger a series of chemical signals that instruct the B cell to start making IgG, IgA, or IgE antibodies. CD40 ligand is also necessary for T cells to interact with other cells of the immune system, and it plays a key role in T cell differentiation (the process by which cells mature to carry out specific functions). Mutations in the CD40LG gene lead to the production of an abnormal CD40 ligand or prevent production of this protein. If CD40 ligand does not attach to its receptor on B cells, these cells cannot produce IgG, IgA, or IgE antibodies. Mutations in the CD40LG gene also impair the T cell's ability to differentiate and interact with other immune system cells. People with X-linked hyper IgM syndrome are more susceptible to infections because they do not have a properly functioning immune system. </s>

<s>[INST] Human: How to prevent Prevent diabetes problems: Keep your heart and blood vessels healthy ? [/INST] Assistant: You can do a lot to prevent heart disease and stroke. - Keep your blood glucose under control. You can see if your blood glucose is under control by having an A1C test at least twice a year. The A1C test tells you your average blood glucose for the past 2 to 3 months. The target for most people with diabetes is below 7. In some people with heart disease or other special circumstances, their doctor may recommend slightly higher levels of A1C. - Keep your blood pressure under control. Have it checked at every doctor visit. The target for most people with diabetes is below 140/80, unless their doctor sets a different target. - Keep your cholesterol under control. Have it checked at least once a year. The targets for most people with diabetes are - LDLbadcholesterol: below 100 - HDLgoodcholesterol: above 40 in men and above 50 in women - triglyceridesanother type of fat in the blood: below 150 - Make sure the foods you eat are "heart-healthy." Include foods high in fiber, such as oat bran, oatmeal, whole-grain breads and cereals, fruits, and vegetables. Cut back on foods high in saturated fat or cholesterol, such as meats, butter, dairy products with fat, eggs, shortening, lard, and foods with palm oil or coconut oil. Limit foods with trans fat, such as snack foods and commercial baked goods. - If you smoke, quit. Your doctor can tell you about ways to help you quit smoking. - Ask your doctor whether you should take an aspirin every day. Studies have shown that taking a low dose of aspirin every day can help reduce your risk of heart disease and stroke. - Take your medicines as directed. </s>

<s>[INST] Human: What is (are) Farber's Disease ? [/INST] Assistant: Farbers disease, also known as Farber's lipogranulomatosis, describes a group of inherited metabolic disorders called lipid storage diseases, in which excess amounts of lipids (oils, fatty acids, and related compounds) build up to harmful levels in the joints, tissues, and central nervous system. The liver, heart, and kidneys may also be affected. Disease onset is typically seen in early infancy but may occur later in life. Symptoms of the classic form may have moderately impaired mental ability and difficulty with swallowing. Other symptoms may include chronic shortening of muscles or tendons around joints. arthritis, swollen lymph nodes and joints, hoarseness, nodules under the skin (and sometimes in the lungs and other parts of the body), and vomiting. Affected persons may require the insertion of a breathing tube. In severe cases, the liver and spleen are enlarged. Farber's disease is caused by a deficiency of the enzyme ceramidase. The disease occurs when both parents carry and pass on the defective gene that regulates the protein sphingomyelin. Children born to these parents have a 25 percent chance of inheriting the disorder and a 50 percent chance of carrying the faulty gene. The disorder affects both males and females. </s>

<s>[INST] Human: What are the symptoms of Aniridia ? [/INST] Assistant: What are the signs and symptoms of Aniridia? The Human Phenotype Ontology provides the following list of signs and symptoms for Aniridia. 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 macula 90% Aplasia/Hypoplasia of the iris 90% Nystagmus 90% Visual impairment 90% Blepharophimosis 50% Cataract 50% Corneal erosion 50% Ectopia lentis 50% Glaucoma 50% Keratoconjunctivitis sicca 50% Opacification of the corneal stroma 50% Optic atrophy 50% Photophobia 50% Ptosis 50% Strabismus 50% Abnormality of the genital system 7.5% Abnormality of the hypothalamus-pituitary axis 7.5% Abnormality of the sense of smell 7.5% Abnormality of the teeth 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Cognitive impairment 7.5% Decreased corneal thickness 7.5% Microcornea 7.5% Ocular albinism 7.5% Optic nerve coloboma 7.5% Sensorineural hearing impairment 7.5% Umbilical hernia 7.5% Aniridia - Autosomal dominant inheritance - Hypoplasia of the fovea - Optic nerve hypoplasia - 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. </s>

<s>[INST] Human: What are the symptoms of Prescription and Illicit Drug Abuse ? [/INST] Assistant: Not always. Some warning signs, such as sleep problems, falls, mood swings, anxiety, depression, and memory problems -- can also be signs of other health conditions. As a result, doctors and family members often do not realize that an older person has a drug problem, and people may not get the help they need. </s>

<s>[INST] Human: What are the treatments for Prostate Cancer ? [/INST] Assistant: If tests show that you have cancer, you should talk with your doctor in order to make treatment decisions. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. Clinical Trials for Prostate Cancer Some prostate cancer patients take part in studies of new treatments. These studies -- called clinical trials -- are designed to find out whether a new treatment is safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Men with prostate cancer who are interested in taking part in a clinical trial should talk with their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. Click here to see a list of the current clinical trials on prostate cancer. A separate window will open. Click the "x" in the upper right hand corner of the "Clinical Trials" window to return here. </s>

<s>[INST] Human: What is (are) Amniotic band syndrome ? [/INST] Assistant: Amniotic band syndrome refers to a condition in which bands extend from (and originating from) the inner lining of the amnion. The amnion is the sac that surrounds the baby in the womb. As the baby develops in the womb, its extremities may become entangled in the amniotic band resulting in constriction or even amputation. When this happens the baby is said to have amniotic band syndrome. Amniotic bands are thought to happen sporadically or in association with trauma to the abdomen. It can be a complication after an amniocentesis and/or it can indicate early rupture of the amniotic sac. </s>

<s>[INST] Human: What are the genetic changes related to Muenke syndrome ? [/INST] Assistant: Mutations in the FGFR3 gene cause Muenke syndrome. The FGFR3 gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. A single mutation in the FGFR3 gene is responsible for Muenke syndrome. This mutation causes the FGFR3 protein to be overly active, which interferes with normal bone growth and allows the bones of the skull to fuse before they should. </s>

<s>[INST] Human: What causes Hypotension ? [/INST] Assistant: Conditions or factors that disrupt the body's ability to control blood pressure cause hypotension. The different types of hypotension have different causes. Orthostatic Hypotension Orthostatic hypotension has many causes. Sometimes two or more factors combine to cause this type of low blood pressure. Dehydration (de-hi-DRA-shun) is the most common cause of orthostatic hypotension. Dehydration occurs if the body loses more water than it takes in. You may become dehydrated if you don't drink enough fluids or if you sweat a lot during physical activity. Fever, vomiting, and severe diarrhea also can cause dehydration. Orthostatic hypotension also may occur during pregnancy, but it usually goes away after birth. Because an older body doesn't manage changes in blood pressure as well as a younger body, getting older also can lead to this type of hypotension. Postprandial hypotension (a type of orthostatic hypotension) mostly affects older adults. Postprandial hypotension is a sudden drop in blood pressure after a meal. Certain medical conditions can raise your risk of orthostatic hypotension, including: Heart conditions, such as heart attack, heart valve disease, bradycardia (a very low heart rate), and heart failure. These conditions prevent the heart from pumping enough blood to the body. Anemia. Severe infections. Endocrine conditions, such as thyroid disorders, Addison's disease, low blood sugar, and diabetes. Central nervous system disorders, such as Parkinson's disease. Pulmonary embolism. Some medicines for high blood pressure and heart disease can raise your risk of orthostatic hypotension. These medicines include: Diuretics, also called "water pills" Calcium channel blockers Angiotensin-converting enzyme (ACE) inhibitors Angiotensin II receptor blockers Nitrates Beta blockers Medicines for conditions such as anxiety, depression, erectile dysfunction, and central nervous system disorders also can increase your risk of orthostatic hypotension. Other substances, when taken with high blood pressure medicines, also can lead to orthostatic hypotension. These substances include alcohol, barbiturates, and some prescription and over-the-counter medicines. Finally, other factors or conditions that can trigger orthostatic hypotension include being out in the heat or being immobile for a long time. "Immobile" means you can't move around very much. Neurally Mediated Hypotension Neurally mediated hypotension (NMH) occurs when the brain and heart don't communicate with each other properly. For example, when you stand for a long time, blood begins to pool in your legs. This causes your blood pressure to drop. In NMH, the body mistakenly tells the brain that blood pressure is high. In response, the brain slows the heart rate. This makes blood pressure drop even more, causing dizziness and other symptoms. Severe Hypotension Linked to Shock Many factors and conditions can cause severe hypotension linked to shock. Some of these factors also can cause orthostatic hypotension. In shock, though, blood pressure drops very low and doesn't return to normal on its own. Shock is an emergency and must be treated right away. If a person has signs or symptoms of shock, call 911. Some severe infections can cause shock. This is known as septic shock. It can occur if bacteria enter the bloodstream. The bacteria release a toxin (poison) that leads to a dangerous drop in blood pressure. A severe loss of blood or fluids from the body also can cause shock. This is known as hypovolemic (HI-po-vo-LE-mik) shock. Hypovolemic shock can happen as a result of: Major external bleeding (for example, from a severe cut or injury) Major internal bleeding (for example, from a ruptured blood vessel or injury that causes bleeding inside the body) Major loss of body fluids from severe burns Severe swelling of the pancreas (an organ that produces enzymes and hormones, such as insulin) Severe diarrhea Severe kidney disease Overuse of diuretics A major decrease in the heart's ability to pump blood also can cause shock. This is known as cardiogenic (KAR-de-o-JEN-ik) shock. A heart attack, pulmonary embolism, or an ongoing arrhythmia (ah-RITH-me-ah) that disrupts heart function can cause this type of shock. A sudden and extreme relaxation of the arteries linked to a drop in blood pressure also can cause shock. This is known as vasodilatory (VA-so-DI-la-tory) shock. It can occur due to: A severe head injury A reaction to certain medicines Liver failure Poisoning A severe allergic reaction (called anaphylactic (AN-a-fi-LAK-tik) shock) </s>

<s>[INST] Human: What are the treatments for Alcohol Use and Older Adults ? [/INST] Assistant: There is not one right treatment for everyone with alcohol problems. In general, many people need more than one kind of treatment. Medicines can help people with alcohol use disorder quit drinking. Meeting with a therapist or substance-abuse counselor or with a support group may also help. Support from family and friends is important, too. A doctor can help a person decide on the best treatment. Making a change sooner rather than later makes treatment more likely to succeed. Learn more about treatment options for alcohol problems. Learn more about available types of alcohol treatment. (Watch the video to learn more about getting help for alcohol use disorder (AUD). 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.) </s>

<s>[INST] Human: What is the outlook for Sturge-Weber Syndrome ? [/INST] Assistant: Although it is possible for the birthmark and atrophy in the cerebral cortex to be present without symptoms, most infants will develop convulsive seizures during their first year of life. There is a greater likelihood of intellectual impairment when seizures start before the age of 2 and are resistant to treatment. Prognosis is worst in the minority of children who have both sides of the brain affected by the blood vessel abnormalities. </s>

<s>[INST] Human: What is (are) Myoclonic epilepsy with ragged red fibers ? [/INST] Assistant: Myoclonic epilepsy with ragged red fibers (MERRF) is a multisystem disorder characterized by myoclonus, which is often the first symptom, followed by generalized epilepsy, ataxia, weakness, and dementia. Symptoms usually first appear in childhood or adolescence after normal early development. The features of MERRF vary widely from individual to individual, even within families. Other common findings include hearing loss, short stature, optic atrophy, and cardiomyopathy with Wolff-Parkinson-White (WPW) syndrome. The diagnosis is based on clinical features and a muscle biopsy finding of ragged red fibers (RRF). In over 80% of cases, MERRF is caused by mutations in the mitochondrial gene called MT-TK. Several other mitochondrial genes have also been reported to cause MERRF, but many of the individuals with mutations in these other genes have additional signs and symptoms. Seizures associated with MERRF are generally treated with conventional anticonvulsant therapy. Coenzyme Q10 and L-carnitine are often used with the hope of improving mitochondrial function. </s>

<s>[INST] Human: What are the symptoms of Autoimmune hepatitis ? [/INST] Assistant: What are the signs and symptoms of Autoimmune hepatitis? Symptoms of autoimmune hepatitis range from mild to severe. Fatigue is probably the most common symptom of autoimmune hepatitis. Other symptoms include: an enlarged liver jaundice itching skin rashes joint pain abdominal discomfort spider angiomas, or abnormal blood vessels, on the skin nausea vomiting loss of appetite dark urine pale or gray-colored stools People in advanced stages of the disease are more likely to have symptoms related to chronic liver disease, such as fluid in the abdomenalso called ascitesand mental confusion. Women may stop having menstrual periods. The Human Phenotype Ontology provides the following list of signs and symptoms for Autoimmune hepatitis. 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) Autoimmune antibody positivity - 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. </s>

<s>[INST] Human: What causes Goodpasture Syndrome ? [/INST] Assistant: The causes of Goodpasture syndrome are not fully understood. People who smoke or use hair dyes appear to be at increased risk for this condition. Exposure to hydrocarbon fumes, metallic dust, and certain drugs, such as cocaine, may also raise a persons risk. Genetics may also play a part, as a small number of cases have been reported in more than one family member. </s>

<s>[INST] Human: What are the genetic changes related to tubular aggregate myopathy ? [/INST] Assistant: Tubular aggregate myopathy can be caused by mutations in the STIM1 gene. The protein produced from this gene is involved in controlling the entry of positively charged calcium atoms (calcium ions) into cells. The STIM1 protein recognizes when calcium ion levels are low and stimulates the flow of ions into the cell through special channels in the cell membrane called calcium-release activated calcium (CRAC) channels. In muscle cells, the activation of CRAC channels by STIM1 is thought to help replenish calcium stores in a structure called the sarcoplasmic reticulum. STIM1 may also be involved in the release of calcium ions from the sarcoplasmic reticulum. This release of ions stimulates muscle tensing (contraction). The STIM1 gene mutations involved in tubular aggregate myopathy lead to production of a STIM1 protein that is constantly turned on (constitutively active), which means it continually stimulates calcium ion entry through CRAC channels regardless of ion levels. It is unknown how constitutively active STIM1 leads to the muscle weakness characteristic of tubular aggregate myopathy. Evidence suggests that the tubular aggregates are composed of proteins that are normally part of the sarcoplasmic reticulum. Although the mechanism is unknown, some researchers speculate that the aggregates are the result of uncontrolled calcium levels in muscle cells, possibly due to abnormal STIM1 activity. Mutations in other genes, some of which have not been identified, are also thought to cause some cases of tubular aggregate myopathy. </s>

<s>[INST] Human: How to diagnose Hemoglobin E disease ? [/INST] Assistant: How is hemoglobin E disease diagnosed? Many babies are picked up through state newborn screening programs. A diagnosis is usually made by looking at the red blood cells by doing a Mean Corpuscular Volume (MCV) test, which is commonly part of a Complete Blood Count (CBC) test. More specialized tests, such as a hemoglobin electrophoresis and iron studies might be done. These tests indicate whether a person has different types of hemoglobin. Genetic testing of the HBB gene can also be done to confirm a diagnosis. </s>

<s>[INST] Human: What is (are) Renal Tubular Acidosis ? [/INST] Assistant: Renal tubular acidosis (RTA) is a disease that occurs when the kidneys fail to excrete acids into the urine, which causes a person's blood to remain too acidic. Without proper treatment, chronic acidity of the blood leads to growth retardation, kidney stones, bone disease, chronic kidney disease, and possibly total kidney failure. The body's cells use chemical reactions to carry out tasks such as turning food into energy and repairing tissue. These chemical reactions generate acids. Some acid in the blood is normal, but too much acidacidosiscan disturb many bodily functions. Healthy kidneys help maintain acid-base balance by excreting acids into the urine and returning bicarbonatean alkaline, or base, substanceto the blood. This "reclaimed" bicarbonate neutralizes much of the acid that is created when food is broken down in the body. The movement of substances like bicarbonate between the blood and structures in the kidneys is called transport. One researcher has theorized that Charles Dickens may have been describing a child with RTA in the character of Tiny Tim from A Christmas Carol. Tiny Tim's small stature, malformed limbs, and periods of weakness are all possible consequences of the chemical imbalance caused by RTA.1 In the story, Tiny Tim recovers when he receives medical treatment, which would likely have included sodium bicarbonate and sodium citrate, alkaline agents to neutralize acidic blood. The good news is that medical treatment can indeed reverse the effects of RTA. </s>

<s>[INST] Human: What are the genetic changes related to Wolman disease ? [/INST] Assistant: Mutations in the LIPA gene cause Wolman disease. The LIPA gene provides instructions for producing an enzyme called lysosomal acid lipase. This enzyme is found in the lysosomes (compartments that digest and recycle materials in the cell), where it processes lipids such as cholesteryl esters and triglycerides so they can be used by the body. Mutations in this gene lead to a shortage of lysosomal acid lipase and the accumulation of triglycerides, cholesteryl esters, and other kinds of fats within the cells and tissues of affected individuals. This accumulation as well as malnutrition caused by the body's inability to use lipids properly result in the signs and symptoms of Wolman disease. </s>

<s>[INST] Human: What is (are) Myelodysplastic/ Myeloproliferative Neoplasm, Unclassifiable ? [/INST] Assistant: Key Points - Myelodysplastic/myeloproliferative neoplasm, unclassifiable, is a disease that has features of both myelodysplastic and myeloproliferative diseases but is not chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, or atypical chronic myelogenous leukemia. - Signs and symptoms of myelodysplastic/myeloproliferative neoplasm, unclassifiable, include fever, weight loss, and feeling very tired. Myelodysplastic/myeloproliferative neoplasm, unclassifiable, is a disease that has features of both myelodysplastic and myeloproliferative diseases but is not chronic myelomonocytic leukemia, juvenile myelomonocytic leukemia, or atypical chronic myelogenous leukemia. In myelodysplastic /myeloproliferative neoplasm, unclassifiable (MDS/MPD-UC), the body tells too many blood stem cells to become red blood cells, white blood cells, or platelets. Some of these blood stem cells never become mature blood cells. These immature blood cells are called blasts. Over time, the abnormal blood cells and blasts in the bone marrow crowd out the healthy red blood cells, white blood cells, and platelets. MDS/MPN-UC is a very rare disease. Because it is so rare, the factors that affect risk and prognosis are not known. </s>

<s>[INST] Human: What are the symptoms of Klebsiella infection ? [/INST] Assistant: What are the signs and symptoms of Klebsiella infections? The signs and symptoms of Klebsiella infections vary since Klebsiella bacteria can cause several different types of conditions. For example, community-acquired pneumonia is one common type of Klebsiella infection which can lead to lung damage and even death in severe cases. Early signs and symptoms of this condition include: High fevers Chills Flu-like symptoms Cough with yellow and/or bloody mucus Shortness of breath Other common Klebsiella infections include bloodstream infections; wound or surgical site infections; and meningitis. </s>

<s>[INST] Human: Is atelosteogenesis type 2 inherited ? [/INST] Assistant: 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. </s>

<s>[INST] Human: What is (are) X-linked creatine deficiency ? [/INST] Assistant: X-linked creatine deficiency is an inherited disorder that primarily affects the brain. People with this disorder have intellectual disability, which can range from mild to severe, and delayed speech development. Some affected individuals develop behavioral disorders such as attention deficit hyperactivity disorder or autistic behaviors that affect communication and social interaction. They may also experience seizures. Children with X-linked creatine deficiency may experience slow growth and exhibit delayed development of motor skills such as sitting and walking. Affected individuals tend to tire easily. A small number of people with X-linked creatine deficiency have additional signs and symptoms including abnormal heart rhythms, an unusually small head (microcephaly), or distinctive facial features such as a broad forehead and a flat or sunken appearance of the middle of the face (midface hypoplasia). </s>

<s>[INST] Human: What are the symptoms of Spinal intradural arachnoid cysts ? [/INST] Assistant: What are the signs and symptoms of Spinal intradural arachnoid cysts? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinal intradural arachnoid cysts. 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 vertebral column - Arachnoid cyst - Autosomal dominant inheritance - Paraplegia - 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. </s>

<s>[INST] Human: What are the symptoms of Rickets ? [/INST] Assistant: What are the signs and symptoms of rickets? The signs and symptoms of rickets include: Bone pain or tenderness Bowed (curved) legs Large forehead Stunted growth Abnormally curved spine Large abdomen Abnormally shaped ribs and breastbone Wide wrist and elbow joints Teeth abnormalities </s>

<s>[INST] Human: What are the symptoms of Spondylocostal dysostosis 4 ? [/INST] Assistant: What are the signs and symptoms of Spondylocostal dysostosis 4? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 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) Abnormal form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Abnormality of the odontoid process - Autosomal recessive inheritance - Block vertebrae - Hemivertebrae - Missing ribs - Myelomeningocele - Restrictive respiratory insufficiency - Rib fusion - Situs inversus totalis - Unilateral vertebral artery hypoplasia - 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. </s>

<s>[INST] Human: What is (are) Insulin Resistance and Prediabetes ? [/INST] Assistant: Insulin is a hormone made in the pancreas, an organ located behind the stomach. The pancreas contains clusters of cells called islets. Beta cells within the islets make insulin and release it into the blood. Insulin plays a major role in metabolismthe way the body uses digested food for energy. The digestive tract breaks down carbohydratessugars and starches found in many foodsinto glucose. Glucose is a form of sugar that enters the bloodstream. With the help of insulin, cells throughout the body absorb glucose and use it for energy. Insulin's Role in Blood Glucose Control When blood glucose levels rise after a meal, the pancreas releases insulin into the blood. Insulin and glucose then travel in the blood to cells throughout the body. - Insulin helps muscle, fat, and liver cells absorb glucose from the bloodstream, lowering blood glucose levels. - Insulin stimulates the liver and muscle tissue to store excess glucose. The stored form of glucose is called glycogen. - Insulin also lowers blood glucose levels by reducing glucose production in the liver. In a healthy person, these functions allow blood glucose and insulin levels to remain in the normal range. </s>

<s>[INST] Human: What are the symptoms of Keratoderma palmoplantar spastic paralysis ? [/INST] Assistant: What are the signs and symptoms of Keratoderma palmoplantar spastic paralysis? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratoderma palmoplantar spastic paralysis. 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 fingernails 90% Abnormality of the toenails 90% EMG abnormality 90% Gait disturbance 90% Muscle weakness 90% Palmoplantar keratoderma 90% Paresthesia 90% Pes cavus 90% Hemiplegia/hemiparesis 50% Hypertonia 50% Autosomal dominant inheritance - Heterogeneous - Motor axonal neuropathy - Nail dysplasia - Nail dystrophy - Sensory axonal neuropathy - 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. </s>

<s>[INST] Human: What are the symptoms of Syndactyly type 3 ? [/INST] Assistant: What are the signs and symptoms of Syndactyly type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly 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) Camptodactyly of finger 50% Short toe 7.5% 4-5 finger syndactyly - Absent middle phalanx of 5th finger - Autosomal dominant inheritance - Short 5th finger - 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. </s>

<s>[INST] Human: What is (are) Laing distal myopathy ? [/INST] Assistant: Laing distal myopathy is a slowly progressive muscle disorder that tends to begin in childhood. Early symptoms include weakness in the feet and ankles, followed by weakness in the hands and wrists. Weakness in the feet leads to tightening of the Achilles tendon, an inability to lift the big toe, and a high-stepping walk. Weakness in the hands makes it more difficult to lift the fingers, especially the third and fourth fingers. As the muscle weakness slowly progresses over the course of many years, other muscles of the body (e.g., neck, face, legs, hips, and shoulders) weaken. Most affected people remain mobile throughout life. Life expectancy is normal. Laing distal myopathy is caused by mutations in the MYH7 gene and is inherited in an autosomal dominant fashion. </s>

<s>[INST] Human: What are the genetic changes related to permanent neonatal diabetes mellitus ? [/INST] Assistant: Permanent neonatal diabetes mellitus may be caused by mutations in several genes. About 30 percent of individuals with permanent neonatal diabetes mellitus have mutations in the KCNJ11 gene. An additional 20 percent of people with permanent neonatal diabetes mellitus have mutations in the ABCC8 gene. These genes provide instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits, four produced from the KCNJ11 gene and four from the ABCC8 gene. K-ATP channels are found across cell membranes in the insulin-secreting beta cells of the pancreas. These channels open and close in response to the amount of glucose in the bloodstream. Closure of the channels in response to increased glucose triggers the release of insulin out of beta cells and into the bloodstream, which helps control blood sugar levels. Mutations in the KCNJ11 or ABCC8 gene that cause permanent neonatal diabetes mellitus result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood sugar control. Mutations in the INS gene, which provides instructions for making insulin, have been identified in about 20 percent of individuals with permanent neonatal diabetes mellitus. Insulin is produced in a precursor form called proinsulin, which consists of a single chain of protein building blocks (amino acids). The proinsulin chain is cut (cleaved) to form individual pieces called the A and B chains, which are joined together by connections called disulfide bonds to form insulin. Mutations in the INS gene are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form insulin, leading to impaired blood sugar control. Permanent neonatal diabetes mellitus can also be caused by mutations in other genes, some of which have not been identified. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Cerebellar Degeneration ? [/INST] Assistant: The NINDS funds research to find the genes involved in diseases that cause cerebellar degeneration. Discovering these genes, identifying their mutations, and understanding how the abnormal proteins they produce cause cerebellar degeneration may eventually help scientists find ways to prevent, treat, and even cure the diseases that involve cerebellar degeneration. </s>

<s>[INST] Human: What is (are) Cerebral Palsy ? [/INST] Assistant: Cerebral palsy is a group of disorders that affect a person's ability to move and to maintain balance and posture. The disorders appear in the first few years of life. Usually they do not get worse over time. People with cerebral palsy may have difficulty walking. They may also have trouble with tasks such as writing or using scissors. Some have other medical conditions, including seizure disorders or mental impairment. Cerebral palsy happens when the areas of the brain that control movement and posture do not develop correctly or get damaged. Early signs of cerebral palsy usually appear before 3 years of age. Babies with cerebral palsy are often slow to roll over, sit, crawl, smile, or walk. Some babies are born with cerebral palsy; others get it after they are born. There is no cure for cerebral palsy, but treatment can improve the lives of those who have it. Treatment includes medicines, braces, and physical, occupational and speech therapy. NIH: National Institute of Neurological Disorders and Stroke </s>

<s>[INST] Human: Who is at risk for Oral Cavity and Oropharyngeal Cancer? ? [/INST] Assistant: The number of new cases of oral cavity and oropharyngeal cancer and the number of deaths from oral cavity and oropharyngeal cancer varies by race and gender. Over the past ten years, the number of new cases and deaths from oral cavity and oropharyngeal cancer slightly increased in white men and women. The number slightly decreased among black men and women. Oral cavity and oropharyngeal cancer is more common in men than in women. Although oral cavity and oropharyngeal cancer may occur in adults of any age, it occurs most often in those aged 55 to 64 years. France, Brazil, and parts of Asia have much higher rates of oral cavity and oropharyngeal cancer than most other countries. The number of new cases of oropharyngeal cancer caused by certain types of human papillomavirus (HPV) infection has increased. One kind of HPV, called HPV 16, is often passed from one person to another during sexual activity. </s>

<s>[INST] Human: What are the treatments for Erythromelalgia ? [/INST] Assistant: What treatment is available for erythromelalgia? There appear to be several subtypes of erythromelalgia and different subtypes respond to different therapies. Treatment consists of a trying various approaches until the best therapy is found. Patients respond quite variably to drug therapy and no single therapy has proved consistently effective. Spontaneous remissions have also been known to occur. Drugs shown to be effective in relieving pain in some individuals include: aspirin, prostaglandins (misoprostol), serotonin-norepinephrine reuptake inhibitors (venlafaxine and sertraline) and selective serotonin reuptake inhibitors (SSRIs), anticonvulsants (gabapentin), sodium channel blockers, carbamazepine, tricyclic antidepressants (amitriptyline and imipramine), calcium antagonists (nifedipine and diltiazem), magnesium, sodium nitroprusside infusion, and cyclosporine. Other treatments include: cooling or elevating the extremity, topical treatment with capsaicin cream, and surgical sympathectomy (a procedure where the sympathetic nerve fibers are selectively cut).Avoidance of triggers (such as warmth, prolonged standing, etc.) may reduce the number or severity of flare ups. </s>

<s>[INST] Human: What are the symptoms of Necrotizing fasciitis ? [/INST] Assistant: What are the signs and symptoms of necrotizing fasciitis? Symptoms often begin within hours of an injury. Intense pain and tenderness over the affected area are often considered the hallmark symptoms of necrotizing fasciitis (NF). The pain is often described as severe and may raise suspicion of a torn muscle. Some early symptoms may be mistaken for the flu and can include fever, sore throat, stomach ache, nausea, diarrhea, chills, and general body aches. The patient may notice redness around the area which spreads quickly; the affected area can eventually become swollen, shiny, discolored, and hot to the touch. In addition, there may be ulcers or blisters. If the infection continues to spread, the patient may experience the following: dehydration, high fever, fast heart rate, and low blood pressure. Pain may actually improve as tissues and the nerves are destroyed. As the infection spreads, vital organs may be affected and the patient may become confused or delirious. If not successfully treated, NF can lead to shock and eventual death. </s>

<s>[INST] Human: How to diagnose Acromegaly ? [/INST] Assistant: Blood tests If acromegaly is suspected, a doctor must measure the GH level in a persons blood to determine if it is elevated. However, a single measurement of an elevated blood GH level is not enough to diagnose acromegaly: Because GH is secreted by the pituitary in impulses, or spurts, its concentration in the blood can vary widely from minute to minute. At a given moment, a person with acromegaly may have a normal GH level, whereas a GH level in a healthy person may even be five times higher. More accurate information is obtained when GH is measured under conditions that normally suppress GH secretion. Health care professionals often use the oral glucose tolerance test to diagnose acromegaly because drinking 75 to 100 grams of glucose solution lowers blood GH levels to less than 1 nanogram per milliliter (ng/ml) in healthy people. In people with GH overproduction, this suppression does not occur. The oral glucose tolerance test is a highly reliable method for confirming a diagnosis of acromegaly. Physicians also can measure IGF-I levels, which increase as GH levels go up, in people with suspected acromegaly. Because IGF-I levels are much more stable than GH levels over the course of the day, they are often a more practical and reliable screening measure. Elevated IGF-I levels almost always indicate acromegaly. However, a pregnant womans IGF-I levels are two to three times higher than normal. In addition, physicians must be aware that IGF-I levels decline with age and may also be abnormally low in people with poorly controlled diabetes or liver or kidney disease. Imaging After acromegaly has been diagnosed by measuring GH or IGF-I levels, a magnetic resonance imaging (MRI) scan of the pituitary is used to locate and detect the size of the tumor causing GH overproduction. MRI is the most sensitive imaging technique, but computerized tomography (CT) scans can be used if the patient should not have MRI. For example, people who have pacemakers or other types of implants containing metal should not have an MRI scan because MRI machines contain powerful magnets. If a head scan fails to detect a pituitary tumor, the physician should look for non-pituitary "ectopic" tumors in the chest, abdomen, or pelvis as the cause of excess GH. The presence of such tumors usually can be diagnosed by measuring GHRH in the blood and by a CT scan of possible tumor sites. Rarely, a pituitary tumor secreting GH may be too tiny to detect even with a sensitive MRI scan. </s>

<s>[INST] Human: Is prion disease inherited ? [/INST] Assistant: Familial forms of prion disease are inherited in an autosomal dominant pattern, which means one copy of the altered PRNP gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the altered gene from one affected parent. In some people, familial forms of prion disease are caused by a new mutation in the gene that occurs during the formation of a parent's reproductive cells (eggs or sperm) or in early embryonic development. Although such people do not have an affected parent, they can pass the genetic change to their children. The sporadic, acquired, and iatrogenic forms of prion disease, including kuru and variant Creutzfeldt-Jakob disease, are not inherited. </s>

<s>[INST] Human: What is (are) Male Infertility ? [/INST] Assistant: Infertility is a term doctors use if a man hasn't been able to get a woman pregnant after at least one year of trying. Causes of male infertility include - Physical problems with the testicles - Blockages in the ducts that carry sperm - Hormone problems - A history of high fevers or mumps - Genetic disorders - Lifestyle or environmental factors About a third of the time, infertility is because of a problem with the man. One third of the time, it is a problem with the woman. Sometimes no cause can be found. If you suspect you are infertile, see your doctor. There are tests that may tell if you have fertility problems. When it is possible to find the cause, treatments may include medicines, surgery, or assisted reproductive technology. Happily, many couples treated for infertility are able to have babies. NIH: National Institute of Child Health and Human Development </s>

<s>[INST] Human: What are the treatments for What I need to know about Hepatitis B ? [/INST] Assistant: Hepatitis B is not usually treated unless it becomes chronic. Chronic hepatitis B is treated with medicines that slow or stop the virus from damaging the liver. Medicines for Chronic Hepatitis B Your doctor will choose medicines or a combination of medicines that are likely to work for you. The doctor will closely watch your symptoms and schedule regular blood tests to make sure treatment is working. Medicines given by shots include - interferon - peginterferon Medicines taken by mouth include - adefovir - entecavir - lamivudine - telbivudine - tenofovir The length of treatment varies. Talk with your doctor before taking other prescription medicines and over-the-counter medicines. Liver Transplant A liver transplant may be necessary if chronic hepatitis B causes severe liver damage that leads to liver failure. Symptoms of severe liver damage include the symptoms of hepatitis B and - generalized itching - a longer than usual amount of time for bleeding to stop - easy bruising - swollen stomach or ankles - spiderlike blood vessels, called spider angiomas, that develop on the skin Liver transplant is surgery to remove a diseased or injured liver and replace it with a healthy one from another person, called a donor. If your doctors tell you that you need a transplant, you should talk with them about the long-term demands of living with a liver transplant. A team of surgeonsdoctors who specialize in surgeryperforms a liver transplant in a hospital. You will learn how to take care of yourself after you go home and about the medicines youll need to take to protect your new liver. Medicines taken after liver transplant surgery can prevent hepatitis B from coming back. Testing for Liver Cancer Having hepatitis B increases your risk for getting liver cancer, so your doctor may suggest an ultrasound test of the liver every 6 to 12 months. Finding cancer early makes it more treatable. Ultrasound is a machine that uses sound waves to create a picture of your liver. Ultrasound is performed at a hospital or radiology center by a specially trained technician. The image, called a sonogram, can show the livers size and the presence of cancerous tumors. </s>

<s>[INST] Human: Is Lennox-Gastaut syndrome inherited ? [/INST] Assistant: Most cases of Lennox-Gastaut syndrome are sporadic, which means they occur in people with no history of the disorder in their family. However, 3 to 30 percent of people with this condition have a family history of some type of epilepsy. People with the cryptogenic form of Lennox-Gastaut syndrome are more likely than people with the symptomatic form to have a family history of epilepsy. </s>

<s>[INST] Human: What are the treatments for multiple cutaneous and mucosal venous malformations ? [/INST] Assistant: These resources address the diagnosis or management of VMCM: - Gene Review: Gene Review: Multiple Cutaneous and Mucosal Venous Malformations - Genetic Testing Registry: Multiple Cutaneous and Mucosal Venous Malformations 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 </s>

<s>[INST] Human: What are the genetic changes related to Y chromosome infertility ? [/INST] Assistant: As its name suggests, this form of infertility is caused by changes in the Y chromosome. People normally have 46 chromosomes in each cell. Two of the 46 chromosomes are sex chromosomes, called X and Y. Females have two X chromosomes (46,XX), and males have one X chromosome and one Y chromosome (46,XY). Because only males have the Y chromosome, the genes on this chromosome tend to be involved in male sex determination and development. Y chromosome infertility is usually caused by deletions of genetic material in regions of the Y chromosome called azoospermia factor (AZF) A, B, or C. Genes in these regions are believed to provide instructions for making proteins involved in sperm cell development, although the specific functions of these proteins are not well understood. Deletions in the AZF regions may affect several genes. The missing genetic material likely prevents production of a number of proteins needed for normal sperm cell development, resulting in Y chromosome infertility. In rare cases, changes to a single gene called USP9Y, which is located in the AZFA region of the Y chromosome, can cause Y chromosome infertility. The USP9Y gene provides instructions for making a protein called ubiquitin-specific protease 9. A small number of individuals with Y chromosome infertility have deletions of all or part of the USP9Y gene, while other genes in the AZF regions are unaffected. Deletions in the USP9Y gene prevent the production of ubiquitin-specific protease 9 or result in the production of an abnormally short, nonfunctional protein. The absence of functional ubiquitin-specific protease 9 impairs the production of sperm cells, resulting in Y chromosome infertility. </s>

<s>[INST] Human: What is (are) Kawasaki syndrome ? [/INST] Assistant: Kawasaki syndrome is a condition that involves inflammation of the blood vessels. It is typically diagnosed in young children, but older children and adults can also develop this condition. Kawasaki syndrome often begins with a fever that lasts at least 5 days. Other classic symptoms may include red eyes, lips, and mouth; rash; swollen and red hands and feet; and swollen lymph nodes. Sometimes the condition affects the coronary arteries (which carry oxygen-rich blood to the heart). This can lead to serious heart problems. Kawasaki syndrome occurs most often in people of Asian and Pacific Island descent. The cause of Kawasaki disease is unknown. An infection along with genetic factors may be involved. Treatment includes intravenous gamma globulin and high doses of aspirin in a hospital setting. </s>

<s>[INST] Human: How to diagnose Extragonadal Germ Cell Tumors ? [/INST] Assistant: Imaging and blood tests are used to detect (find) and diagnose extragonadal germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. The testicles may be checked for lumps, swelling, or pain. A history of the patient's health habits and past illnesses and treatments will also be taken. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - Serum tumor marker test : A procedure in which a sample of blood is examined to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. These are called tumor markers. The following three tumor markers are used to detect extragonadal germ cell tumor: - Alpha-fetoprotein (AFP). - Beta-human chorionic gonadotropin (-hCG). - Lactate dehydrogenase (LDH). Blood levels of the tumor markers help determine if the tumor is a seminoma or nonseminoma. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. Sometimes a CT scan and a PET scan are done at the same time. A PET scan is a procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. When a PET scan and CT scan are done at the same time, it is called a PET-CT. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. The type of biopsy used depends on where the extragonadal germ cell tumor is found. - Excisional biopsy : The removal of an entire lump of tissue. - Incisional biopsy : The removal of part of a lump or sample of tissue. - Core biopsy : The removal of tissue using a wide needle. - Fine-needle aspiration (FNA) biopsy : The removal of tissue or fluid using a thin needle. </s>

<s>[INST] Human: What are the genetic changes related to X-linked agammaglobulinemia ? [/INST] Assistant: Mutations in the BTK gene cause XLA. This gene provides instructions for making the BTK protein, which is important for the development of B cells and normal functioning of the immune system. Most mutations in the BTK gene prevent the production of any BTK protein. The absence of functional BTK protein blocks B cell development and leads to a lack of antibodies. Without antibodies, the immune system cannot properly respond to foreign invaders and prevent infection. </s>

<s>[INST] Human: What are the symptoms of Parsonage Turner syndrome ? [/INST] Assistant: What are the signs and symptoms of Parsonage Turner syndrome? Parsonage Turner syndrome is usually characterized by the sudden onset of severe pain in the shoulder and upper arm, which is often described as sharp or throbbing. In some cases, the pain may extend to the neck, lower arm and/or hand on the affected side. Rarely, both sides of the body are involved. Affected people typically experience constant pain that may become worse with movement. Intense pain can last from a few hours to several weeks at which point the pain usually begins to subside; however, mild pain may continue for a year or longer. As the pain subsides, it is typically replaced by progressive (worsening over time) weakness of the affected area, ranging from mild weakness to nearly complete paralysis. Affected people may also experience muscle wasting (atrophy); absent or reduced reflexes; and/or loss of sensation. In some cases, nerves and muscles outside of the shoulder and upper arm region may be affected, as well. </s>

<s>[INST] Human: How to diagnose Crimean-Congo Hemorrhagic Fever (CCHF) ? [/INST] Assistant: Laboratory tests that are used to diagnose CCHF include antigen-capture enzyme-linked immunosorbent assay (ELISA), real time polymerase chain reaction (RT-PCR), virus isolation attempts, and detection of antibody by ELISA (IgG and IgM). Laboratory diagnosis of a patient with a clinical history compatible with CCHF can be made during the acute phase of the disease by using the combination of detection of the viral antigen (ELISA antigen capture), viral RNA sequence (RT-PCR) in the blood or in tissues collected from a fatal case and virus isolation. Immunohistochemical staining can also show evidence of viral antigen in formalin-fixed tissues. Later in the course of the disease, in people surviving, antibodies can be found in the blood. But antigen, viral RNA and virus are no more present and detectable </s>

<s>[INST] Human: What are the treatments for Turner syndrome ? [/INST] Assistant: These resources address the diagnosis or management of Turner syndrome: - Genetic Testing Registry: Turner syndrome - MedlinePlus Encyclopedia: Ovarian Hypofunction - MedlinePlus Encyclopedia: Turner 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 </s>

<s>[INST] Human: What is (are) pseudohypoaldosteronism type 1 ? [/INST] Assistant: Pseudohypoaldosteronism type 1 (PHA1) is a condition characterized by problems regulating the amount of sodium in the body. Sodium regulation, which is important for blood pressure and fluid balance, primarily occurs in the kidneys. However, sodium can also be removed from the body through other tissues, such as the sweat glands and colon. Pseudohypoaldosteronism type 1 is named for its characteristic signs and symptoms, which mimic (pseudo) low levels (hypo) of a hormone called aldosterone that helps regulate sodium levels. However, people with PHA1 have high levels of aldosterone. There are two types of PHA1 distinguished by their severity, the genes involved, and how they are inherited. One type, called autosomal dominant PHA1 (also known as renal PHA1) is characterized by excessive sodium loss from the kidneys. This form of the condition is relatively mild and often improves in early childhood. The other type, called autosomal recessive PHA1 (also known as generalized or systemic PHA1) is characterized by sodium loss from the kidneys and other organs, including the sweat glands, salivary glands, and colon. This type of PHA1 is more severe and does not improve with age. The earliest signs of both types of PHA1 are usually the inability to gain weight and grow at the expected rate (failure to thrive) and dehydration, which are typically seen in infants. The characteristic features of both types of PHA1 are excessive amounts of sodium released in the urine (salt wasting), which leads to low levels of sodium in the blood (hyponatremia), and high levels of potassium in the blood (hyperkalemia). Infants with PHA1 can also have high levels of acid in the blood (metabolic acidosis). Hyponatremia, hyperkalemia, or metabolic acidosis can cause nonspecific symptoms such as nausea, vomiting, extreme tiredness (fatigue), and muscle weakness in infants with PHA1. Infants with autosomal recessive PHA1 can have additional signs and symptoms due to the involvement of multiple organs. Affected individuals may experience episodes of abnormal heartbeat (cardiac arrhythmia) or shock because of the imbalance of salts in the body. They may also have recurrent lung infections or lesions on the skin. Although adults with autosomal recessive PHA1 can have repeated episodes of salt wasting, they do not usually have other signs and symptoms of the condition. </s>

<s>[INST] Human: What are the treatments for Balance Problems ? [/INST] Assistant: In BPPV (benign paroxysmal positional vertigo), small calcium particles in the inner ear become displaced, causing dizziness. A doctor, otolaryngologist, audiologist, or physical therapist can treat BPPV by carefully moving the head and torso to move the displaced calcium particles back to their original position Learn more about causes and treatments for BPPV. An NIDCD-supported clinical trial in BPPV showed that repositioning maneuvers work well, and offered clinicians a range of choices in selecting the treatment best suited to each individuals unique needs. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Depression ? [/INST] Assistant: Treating Older Adults Studies show that the majority of older adults with depression improve when they receive treatment with an antidepressant, psychotherapy or a combination of both. In addition, research has indicated that treating depression in older adults often improves the outcomes of co-existing medical conditions. Some research has also suggested that the risk for developing depression in people who have had a stroke may be reduced if they receive preventative treatment with an antidepressant or talk therapy. Special Considerations However, there are some special considerations that doctors must take into account when treating older adults. The commonly prescribed medications for depression may not work well for some older adults because they may interact unfavorably with other medications being taken for other conditions. Some older adults with depression may also have some problems thinking clearly, and these individuals often respond poorly to the drugs. Which Form of Treatment Is Most Effective? Many older adults prefer to get counseling or psychotherapy for depression rather than add more medications to those they are already taking for other conditions. Research suggests that for older adults, psychotherapy is just as likely to be an effective first treatment for depression as taking an antidepressant. There is a great deal of evidence indicating that cognitive-behavioral therapy (CBT), including a version called problem solving therapy, may be an especially useful type of psychotherapy for treating older adults and improving their quality of life. However, a practical issue to consider when deciding on treatment is that it may be harder for many older people to find or be able to travel to meetings with a well-trained psychotherapist than to get a prescription for antidepressant medication from their primary care doctor. Also, some research suggests that treatment with medication may be more effective if the depression is quite severe or if the older adult is coping with other serious illnesses. Overall, research has suggested that, when possible, a combination of medication and psychotherapy treatment is likely to be most effective in treating depression in older adults and, in particular, for reducing the number of new episodes. Late-Life Depression is Often Undiagnosed Despite progress in treatment research, late-life depression often goes undiagnosed or is inadequately treated in older adults. In fact, several studies have found that up to 75 percent of older adults who die by suicide had visited their primary care doctors within one month of their deaths. Collaborative or comprehensive care may lead to better treatment results. Collaborative Care The Prevention of Suicide in Primary Care Elderly: Collaborative Trial (PROSPECT) offered antidepressant medication and/or psychotherapy to depressed older adults, along with a "care manager" -- a social worker, nurse or psychologist -- who monitored their symptoms, side effects of medication, and progress. The study found that those participants who had case-managed care got better more quickly, had longer periods without depression, and in general responded better to treatment than those who did not have case-managed care. Another study called the Improving Mood: Promoting Access to Collaborative Treatment (IMPACT) trial also found that collaborative care was more effective than usual care, and was less expensive over the long run as well. Improving Diagnosis of Depression Several studies are looking at ways to help older adults get better access to depression treatment. One is developing and testing an education and intervention program to help primary care clinics and providers identify and treat late-life depression. Another study found that depressed older adults who had a "care manager" monitor their symptoms, side effects, and progress got better more quickly -- and stayed better longer -- than those who did not have case-managed care. Still other projects are investigating ways of improving older adults engagement in and ability to follow treatment plans for depression. Researchers are also looking at ways to - better understand the relationship between other medical illnesses and depression - integrate treatment for depression with treatments for other medical conditions a person may have - produce a quicker response to treatment - develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies) - help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression. better understand the relationship between other medical illnesses and depression integrate treatment for depression with treatments for other medical conditions a person may have produce a quicker response to treatment develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies) help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression. Findings from these and other studies will provide important information for doctors to treat late-life depression. In a Crisis? Get Help! If you are in a crisis... If you are thinking about harming yourself or attempting suicide, tell someone who can help immediately. - Call your doctor. - Call 911 for emergency services. - Go to the nearest hospital emergency room. - Call the toll-free, 24-hour hotline of the National Suicide Prevention Lifeline at 1-800-273-TALK (1-800-273-8255); TTY: 1-800-799-4TTY (4889) to be connected to a trained counselor at a suicide crisis center nearest you. Call your doctor. Call 911 for emergency services. Go to the nearest hospital emergency room. Call the toll-free, 24-hour hotline of the National Suicide Prevention Lifeline at 1-800-273-TALK (1-800-273-8255); TTY: 1-800-799-4TTY (4889) to be connected to a trained counselor at a suicide crisis center nearest you. </s>

<s>[INST] Human: How to diagnose Greig cephalopolysyndactyly syndrome ? [/INST] Assistant: Is genetic testing available for Greig cephalopolysyndactyly syndrome? Yes. GLI3 is the only gene known to be associated with Greig cephalopolysyndactyly syndrome (GCPS). Genetic testing is available to analyze the GLI3 gene for mutations. Mutations involving GLI3 can be identified in greater than 75% of people with GCPS. How is Greig cephalopolysyndactyly syndrome diagnosed? Greig cephalopolysyndactyly syndrome (GCPS) is diagnosed based on clinical findings and family history. Major findings of GCPS include: an abnormally large head size (macrocephaly) greater than the 97th percentile widely spaced eyes (ocular hypertelorism) limb anomalies including extra fingers or toes (polydactyly) fused skin between the fingers and toes (cutaneous syndactyly) A diagnosis is established in a first degree relative of a known affected individual if that person has polydactyly with or without syndactyly or craniofacial features (macrocephaly, widely spaced eyes). A diagnosis is additionally established in a person who has features of GCPS and a mutation in the GLI3 gene. </s>

<s>[INST] Human: What is (are) Leprechaunism ? [/INST] Assistant: Leprechaunism is a congenital (present from birth) condition characterized by extreme insulin resistance, pre- and postnatal growth delays, characteristic facial features, skin abnormalities, muscular hypotrophy (reduced muscle mass) and enlarged external genitalia in both males and females. The condition is caused by mutations in the insulin receptor gene (INSR) gene. It is inherited in an autosomal recessive manner. </s>

<s>[INST] Human: Do you have information about Stroke Rehabilitation [/INST] Assistant: Summary : A stroke can cause lasting brain damage. People who survive a stroke need to relearn skills they lose because of the damage. Rehabilitation can help them relearn those skills. Stroke can cause five types of disabilities: - Paralysis or problems controlling movement - Pain and other problems with the senses - Problems using or understanding language - Problems with thinking and memory - Emotional disturbances Stroke rehabilitation involves many kinds of health professionals. The goal is to help survivors become as independent as possible and to have the best possible quality of life. NIH: National Institute of Neurological Disorders and Stroke </s>

<s>[INST] Human: How many people are affected by collagen VI-related myopathy ? [/INST] Assistant: Collagen VI-related myopathy is rare. Bethlem myopathy is estimated to occur in 0.77 per 100,000 individuals, and Ullrich congenital muscular dystrophy is estimated to occur in 0.13 per 100,000 individuals. Only a few cases of the intermediate form have been described in the scientific literature. </s>

<s>[INST] Human: What is (are) Mycobacterium Malmoense ? [/INST] Assistant: Mycobacterium malmoense (M. malmoense) is a bacterium naturally found in the environment, such as in wet soil, house dust, water, dairy products, domestic and wild animals, food, and human waste. M. malmoense infections most often occur in adults with lung disease, and manifests as a lung infection. Skin and tissue infections with M. malmoense have also been described. In young children, M. Malmoense may cause an infection of lymphnodes in the neck (i.e., cervical lymphadenitis). </s>

<s>[INST] Human: What is the outlook for Progressive Multifocal Leukoencephalopathy ? [/INST] Assistant: In general, PML has a mortality rate of 30-50 percent in the first few months following diagnosis but depends on the severity of the underlying disease and treatment received. Those who survive PML can be left with severe neurological disabilities. </s>

<s>[INST] Human: What are the symptoms of Barraquer-Simons syndrome ? [/INST] Assistant: What are the signs and symptoms of Barraquer-Simons syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barraquer-Simons 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) Lipoatrophy 90% Abnormality of complement system 50% Autoimmunity 50% Cognitive impairment 50% Glomerulopathy 50% Hearing impairment 50% Hematuria 50% Lymphocytosis 50% Myopathy 50% Prematurely aged appearance 50% Proteinuria 50% Seizures 50% Arthralgia 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Insulin resistance 7.5% Abnormality of lipid metabolism - Autosomal dominant inheritance - Decreased serum complement C3 - Diabetes mellitus - Hirsutism - Juvenile onset - Loss of subcutaneous adipose tissue from upper limbs - Loss of truncal subcutaneous adipose tissue - Membranoproliferative glomerulonephritis - Nephrotic syndrome - Phenotypic variability - Polycystic ovaries - Progressive loss of facial adipose tissue - Recurrent infections - Sporadic - 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. </s>

<s>[INST] Human: How to diagnose Diabetic Kidney Disease ? [/INST] Assistant: People with diabetes should get regular screenings for kidney disease. The National Kidney Disease Education Program recommends the following: - urine albumin-to-creatinine ratio measured at least once a year in all people with type 2 diabetes and people who have had type 1 diabetes for 5 years or more - eGFR calculated at least once a year in all people with type 1 or type 2 diabetes </s>

<s>[INST] Human: What is (are) Urinary Incontinence in Men ? [/INST] Assistant: The types of UI in men include - urgency incontinence - stress incontinence - functional incontinence - overflow incontinence - transient incontinence Urgency Incontinence Urgency incontinence happens when a man urinates involuntarily after he has a strong desire, or urgency, to urinate. Involuntary bladder contractions are a common cause of urgency incontinence. Abnormal nerve signals might cause these bladder contractions. Triggers for men with urgency incontinence include drinking a small amount of water, touching water, hearing running water, or being in a cold environmenteven if for just a short whilesuch as reaching into the freezer at the grocery store. Anxiety or certain liquids, medications, or medical conditions can make urgency incontinence worse. The following conditions can damage the spinal cord, brain, bladder nerves, or sphincter nerves, or can cause involuntary bladder contractions leading to urgency incontinence: - Alzheimers diseasea disorder that affects the parts of the brain that control thought, memory, and language - injury to the brain or spinal cord that interrupts nerve signals to and from the bladder - multiple sclerosisa disease that damages the material that surrounds and protects nerve cells, which slows down or blocks messages between the brain and the body - Parkinsons diseasea disease in which the cells that make a chemical that controls muscle movement are damaged or destroyed - strokea condition in which a blocked or ruptured artery in the brain or neck cuts off blood flow to part of the brain and leads to weakness, paralysis, or problems with speech, vision, or brain function Urgency incontinence is a key sign of overactive bladder. Overactive bladder occurs when abnormal nerves send signals to the bladder at the wrong time, causing its muscles to squeeze without enough warning time to get to the toilet. More information is provided in the NIDDK health topic, Nerve Disease and Bladder Control. Stress Incontinence Stress incontinence results from movements that put pressure on the bladder and cause urine leakage, such as coughing, sneezing, laughing, or physical activity. In men, stress incontinence may also occur - after prostate surgery - after neurologic injury to the brain or spinal cord - after trauma, such as injury to the urinary tract - during older age Functional Incontinence Functional incontinence occurs when physical disability, external obstacles, or problems in thinking or communicating keep a person from reaching a place to urinate in time. For example, a man with Alzheimers disease may not plan ahead for a timely trip to a toilet. A man in a wheelchair may have difficulty getting to a toilet in time. Arthritispain and swelling of the jointscan make it hard for a man to walk to the restroom quickly or open his pants in time. Overflow Incontinence When the bladder doesnt empty properly, urine spills over, causing overflow incontinence. Weak bladder muscles or a blocked urethra can cause this type of incontinence. Nerve damage from diabetes or other diseases can lead to weak bladder muscles; tumors and urinary stones can block the urethra. Men with overflow incontinence may have to urinate often, yet they release only small amounts of urine or constantly dribble urine. Transient Incontinence Transient incontinence is UI that lasts a short time. Transient incontinence is usually a side effect of certain medications, drugs, or temporary conditions, such as - a urinary tract infection (UTI), which can irritate the bladder and cause strong urges to urinate - caffeine or alcohol consumption, which can cause rapid filling of the bladder - chronic coughing, which can put pressure on the bladder - constipationhard stool in the rectum can put pressure on the bladder - blood pressure medications that can cause increased urine production - short-term mental impairment that reduces a mans ability to care for himself - short-term restricted mobility </s>

<s>[INST] Human: Is familial dysautonomia inherited ? [/INST] Assistant: 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. </s>

<s>[INST] Human: What is (are) Congenital mirror movement disorder ? [/INST] Assistant: Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements; however, the severity of symptoms can vary significantly, even among family members. CMM can be caused by changes (mutations) in the DCC or RAD51 genes and inherited in an autosomal dominant manner. In some families, the exact underlying cause of CMM is unknown. </s>

<s>[INST] Human: What are the genetic changes related to myasthenia gravis ? [/INST] Assistant: Researchers believe that variations in particular genes may increase the risk of myasthenia gravis, but the identity of these genes is unknown. Many factors likely contribute to the risk of developing this complex disorder. Myasthenia gravis is an autoimmune disorder, which occurs when the immune system malfunctions and attacks the body's own tissues and organs. In myasthenia gravis, the immune system disrupts the transmission of nerve impulses to muscles by producing a protein called an antibody that attaches (binds) to proteins important for nerve signal transmission. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibody in myasthenia gravis attacks a normal human protein. In most affected individuals, the antibody targets a protein called acetylcholine receptor (AChR); in others, the antibodies attack a related protein called muscle-specific kinase (MuSK). In both cases, the abnormal antibodies lead to a reduction of available AChR. The AChR protein is critical for signaling between nerve and muscle cells, which is necessary for movement. In myasthenia gravis, because of the abnormal immune response, less AChR is present, which reduces signaling between nerve and muscle cells. These signaling abnormalities lead to decreased muscle movement and the muscle weakness characteristic of this condition. It is unclear why the immune system malfunctions in people with myasthenia gravis. About 75 percent of affected individuals have an abnormally large and overactive thymus, which is a gland located behind the breastbone that plays an important role in the immune system. The thymus sometimes develops tumors (thymomas) that are usually noncancerous (benign). However, the relationship between the thymus problems and the specific immune system malfunction that occurs in myasthenia gravis is not well understood. People with myasthenia gravis are at increased risk of developing other autoimmune disorders, including autoimmune thyroid disease and systemic lupus erythematosus. Gene variations that affect immune system function likely affect the risk of developing myasthenia gravis and other autoimmune disorders. Some families are affected by an inherited disorder with symptoms similar to those of myasthenia gravis, but in which antibodies to the AChR or MuSK proteins are not present. This condition, which is not an autoimmune disorder, is called congenital myasthenic syndrome. </s>

<s>[INST] Human: What is (are) cyclic neutropenia ? [/INST] Assistant: Cyclic neutropenia is a disorder that causes frequent infections and other health problems in affected individuals. People with this condition have recurrent episodes of neutropenia during which there is a shortage (deficiency) of neutrophils. Neutrophils are a type of white blood cell that plays a role in inflammation and in fighting infection. The episodes of neutropenia are apparent at birth or soon afterward. For most affected individuals, neutropenia recurs every 21 days and lasts about 3 to 5 days. Neutropenia makes it more difficult for the body to fight off pathogens such as bacteria and viruses, so people with cyclic neutropenia typically develop recurrent infections of the sinuses, respiratory tract, and skin. Additionally, people with this condition often develop open sores (ulcers) in the mouth and colon, inflammation of the throat (pharyngitis) and gums (gingivitis), recurrent fever, or abdominal pain. People with cyclic neutropenia have these health problems only during episodes of neutropenia. At times when their neutrophil levels are normal, they are not at an increased risk of infection and inflammation. </s>

<s>[INST] Human: Is hereditary sensory and autonomic neuropathy type IE inherited ? [/INST] Assistant: 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 has one parent with the condition. </s>

<s>[INST] Human: What are the treatments for Sclerosing mesenteritis ? [/INST] Assistant: How might sclerosing mesenteritis be treated? Treatment for sclerosing mesenteritis is most often based on the stage of the disease. In the early stage when fat necrosis predominates, many physicians tend not to treat because the disease process may regress spontaneously. When chronic inflammation becomes a prominent feature but fibrosis is not yet fully developed, medical treatment with corticosteroids, colchicine, immunosuppressants, or orally administered progesterone may be beneficial in the prevention of disease progression. These medications are only given for a short period since they can cause serious side effects. Some studies have shown that patients with sclerosing mesenteritis may benefit from a drug combination of tamoxifen and prednisone. When fibrosis becomes extensive, especially when the disease presents as a large fibrotic mass with bowel obstruction, surgical interventions may be necessary. </s>

<s>[INST] Human: How many people are affected by 48,XXYY syndrome ? [/INST] Assistant: 48,XXYY syndrome is estimated to affect 1 in 18,000 to 50,000 males. </s>

<s>[INST] Human: How many people are affected by Klinefelter syndrome ? [/INST] Assistant: Klinefelter syndrome affects 1 in 500 to 1,000 newborn males. Most variants of Klinefelter syndrome are much rarer, occurring in 1 in 50,000 or fewer newborns. Researchers suspect that Klinefelter syndrome is underdiagnosed because the condition may not be identified in people with mild signs and symptoms. Additionally, the features of the condition vary and overlap significantly with those of other conditions. </s>

<s>[INST] Human: What are the genetic changes related to triple A syndrome ? [/INST] Assistant: Mutations in the AAAS gene cause triple A syndrome. This gene provides instructions for making a protein called ALADIN whose function is not well understood. Within cells, ALADIN is found in the nuclear envelope, the structure that surrounds the nucleus and separates it from the rest of the cell. Based on its location, ALADIN is thought to be involved in the movement of molecules into and out of the nucleus. Mutations in the AAAS gene change the structure of ALADIN in different ways; however, almost all mutations prevent this protein from reaching its proper location in the nuclear envelope. The absence of ALADIN in the nuclear envelope likely disrupts the movement of molecules across this membrane. Researchers suspect that DNA repair proteins may be unable to enter the nucleus if ALADIN is missing from the nuclear envelope. DNA damage that is not repaired can cause the cell to become unstable and lead to cell death. Although the nervous system is particularly vulnerable to DNA damage, it remains unknown exactly how mutations in the AAAS gene lead to the signs and symptoms of triple A syndrome. Some individuals with triple A syndrome do not have an identified mutation in the AAAS gene. The genetic cause of the disorder is unknown in these individuals. </s>

<s>[INST] Human: What is (are) Von Willebrand disease ? [/INST] Assistant: Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor injury or even in the absence of injury. Milder forms of Von Willebrand disease do not involve spontaneous bleeding, and the disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Symptoms may change over time. Increased age, pregnancy, exercise, and stress may make bleeding symptoms may become less frequent. This disease is caused by mutations in the VWF gene and can have different inheritance patterns. </s>

<s>[INST] Human: What are the symptoms of Pericarditis ? [/INST] Assistant: The most common sign of acute pericarditis is sharp, stabbing chest pain. The pain usually comes on quickly. It often is felt in the middle or left side of the chest or over the front of the chest. You also may feel pain in one or both shoulders, the neck, back, and abdomen. The pain tends to ease when you sit up and lean forward. Lying down and deep breathing worsens it. For some people, the pain feels like a dull ache or pressure in the chest. The chest pain also may feel like pain from a heart attack. If you have chest pain, you should call 911 right away, as you may be having a heart attack. Some people with acute pericarditis develop a fever. Other symptoms are weakness, palpitations, trouble breathing, and coughing. (Palpitations are feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast.) The most common symptom of chronic pericarditis is chest pain. Chronic pericarditis also often causes tiredness, coughing, and shortness of breath. Severe cases of chronic pericarditis can lead to swelling in the stomach and legs and hypotension (low blood pressure). Complications of Pericarditis Two serious complications of pericarditis are cardiac tamponade (tam-po-NAD) and chronic constrictive pericarditis. Cardiac tamponade occurs if too much fluid collects in the pericardium (the sac around the heart). The extra fluid puts pressure on the heart. This prevents the heart from properly filling with blood. As a result, less blood leaves the heart, which causes a sharp drop in blood pressure. If left untreated, cardiac tamponade can be fatal. Chronic constrictive pericarditis is a rare disease that develops over time. It leads to scar-like tissue forming throughout the pericardium. The sac becomes stiff and can't move properly. In time, the scarred tissue compresses the heart and prevents it from working well. </s>

<s>[INST] Human: Is Castleman disease inherited ? [/INST] Assistant: Is Castleman disease inherited? Although the exact underlying cause of Castleman disease is unknown, it is thought to occur sporadically in people with no family history of the condition. </s>

<s>[INST] Human: How to prevent Hearing Loss ? [/INST] Assistant: Causes of Hearing Loss Hearing loss happens for many reasons. Some people lose their hearing slowly as they age. This condition is called presbycusis. Doctors do not know why presbycusis happens, but it seems to run in families. Another cause is the ear infection otitis media, which can lead to long-term hearing loss if it is not treated. Hearing loss can also result from taking certain medications. "Ototoxic" medications damage the inner ear, sometimes permanently. Some antibiotics are ototoxic. Even aspirin at some dosages can cause problems, but they are temporary. Check with your doctor if you notice a problem while taking a medication. Heredity can cause hearing loss, but not all inherited forms of hearing loss take place at birth. Some forms can show up later in life. In otosclerosis, which is thought to be a hereditary disease, an abnormal growth of bone prevents structures within the ear from working properly. A severe blow to the head also can cause hearing loss. Loud Noise Can Cause Hearing Loss One of the most common causes of hearing loss is loud noise. Loud noise can permanently damage the inner ear. Loud noise also contributes to tinnitus, which is a ringing, roaring, clicking, hissing, or buzzing sound in the ears. Approximately 15 percent (26 million) of Americans between the ages of 20 and 69 have high frequency hearing loss due to exposure to loud sounds or noise at work or in leisure activities. Avoiding Noise-Induced Hearing Loss Noise-induced hearing loss is 100 percent preventable. You can protect your hearing by avoiding noises at or above 85 decibels in loudness, which can damage your inner ear. These include gas lawnmowers, snowblowers, motorcycles, firecrackers, and loud music. Lower the volume on personal stereo systems and televisions. When you are involved in a loud activity, wear earplugs or other hearing protective devices. Be sure to protect children's ears too. Although awareness of noise levels is important, you should also be aware of how far away you are from loud noise and how long you are exposed to it. Avoid noises that are too loud (85 decibels and above). Reduce the sound if you can, or wear ear protection if you cannot. Potential damage from noise is caused by the loudness of the sound and the amount of time you are exposed to it. If you experience tinnitus or have trouble hearing after noise exposure, then you have been exposed to too much noise. Other Ways to Prevent Hearing Loss There are other ways to prevent hearing loss. - If earwax blockage is a problem for you, ask you doctor about treatments you can use at home such as mineral oil, baby oil, glycerin, or commercial ear drops to soften earwax. - If you suspect that you may have a hole in your eardrum, you should consult a doctor before using such products. A hole in the eardrum can result in hearing loss and fluid discharge. - The ear infection otitis media is most common in children, but adults can get it, too. You can help prevent upper respiratory infections -- and a resulting ear infection -- by washing your hands frequently. - Ask your doctor about how to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. - If you take medications, ask your doctor if your medication is ototoxic, or potentially damaging to the ear. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor should help you get the medication you need while trying to reduce unwanted side effects. If earwax blockage is a problem for you, ask you doctor about treatments you can use at home such as mineral oil, baby oil, glycerin, or commercial ear drops to soften earwax. If you suspect that you may have a hole in your eardrum, you should consult a doctor before using such products. A hole in the eardrum can result in hearing loss and fluid discharge. The ear infection otitis media is most common in children, but adults can get it, too. You can help prevent upper respiratory infections -- and a resulting ear infection -- by washing your hands frequently. Ask your doctor about how to help prevent flu-related ear infections. If you still get an ear infection, see a doctor immediately before it becomes more serious. If you take medications, ask your doctor if your medication is ototoxic, or potentially damaging to the ear. Ask if other medications can be used instead. If not, ask if the dosage can be safely reduced. Sometimes it cannot. However, your doctor should help you get the medication you need while trying to reduce unwanted side effects. </s>

<s>[INST] Human: What is (are) Gaucher Disease ? [/INST] Assistant: Gaucher disease is one of the inherited metabolic disorders known as lipid storage diseases. Lipids are fatty materials that include oils, fatty acids, waxes, and steroids (such as cholesterol and estrogen). Gaucher disease is caused by a deficiency of the enzyme glucocerebrosidase. Fatty materials can accumulate in the brain, spleen, liver, lungs, bone marrow, and kidneys. Symptoms may begin in early life or adulthood and include skeletal disorders and bone lesions that may cause pain and fractures, enlarged spleen and liver, liver malfunction, anemia, and yellow spots in the eyes. There are three common clinical subtypes of Gaucher disease. The first category, called type 1 (or nonneuropathic), typically does not affect the brain. Symptoms may begin early in life or in adulthood. People in this group usually bruise easily due to low blood platelets and experience fatigue due to anemia They also may have an enlarged liver and spleen. Many individuals with a mild form of the disorder may not show any symptoms. In type 2 Gaucher disease (acute infantile neuropathic Gaucher disease), symptoms usually begin by 3 months of age and include extensive brain damage, seizures, spasticity, poor ability to suck and swallow, and enlarged liver and spleen. Affecetd children usually die before 2 years of age. In the third category, called type 3 (or chronic neuropathic Gaucher disease), signs of brain involvement such as seizures gradually become apparent. Major symptoms also include skeletal irregularities, eye movement disorders, cognitive deficit, poor coordination, enlarged liver and spleen, respiratory problems, and blood disorders. </s>

<s>[INST] Human: What causes Pseudohypoaldosteronism type 2 ? [/INST] Assistant: What causes pseudohypoaldosteronism type 2? Pseudohypoaldosteronism type 2 is caused by mutations in either the WNK1 or WNK4 genes. Mutations in these genes cause salt retention and impaired excretion of potassium and acid, leading to high blood pressure, hyperkalemia (high levels of potassium), and metabolic acidosis. </s>

<s>[INST] Human: What are the stages of Gestational Trophoblastic Disease ? [/INST] Assistant: Key Points - After gestational trophoblastic neoplasia has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - There is no staging system for hydatidiform moles. - The following stages are used for GTN: - Stage I - Stage II - Stage III - Stage IV - The treatment of gestational trophoblastic neoplasia is based on the type of disease, stage, or risk group. After gestational trophoblastic neoplasia has been diagnosed, tests are done to find out if cancer has spread from where it started to other parts of the body. The process used to find out the extent or spread of cancer is called staging, The information gathered from the staging process helps determine the stage of disease. For GTN, stage is one of the factors used to plan treatment. The following tests and procedures may be done to help find out the stage of the disease: - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body onto film, making pictures of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - 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 areas inside the body, such as 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). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of the fluid. The sample of CSF is checked under a microscope for signs that the cancer has spread to the brain and spinal cord. This procedure is also called an LP or spinal tap. There are three ways that cancer spreads in the body. Cancer can spread through tissue, the lymph system, and the blood: - Tissue. The cancer spreads from where it began by growing into nearby areas. - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body. - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body. Cancer may spread from where it began to other parts of the body. When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood. - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body. - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body. The metastatic tumor is the same type of cancer as the primary tumor. For example, if choriocarcinoma spreads to the lung, the cancer cells in the lung are actually choriocarcinoma cells. The disease is metastatic choriocarcinoma, not lung cancer. There is no staging system for hydatidiform moles. Hydatidiform moles (HM) are found in the uterus only and do not spread to other parts of the body. The following stages are used for GTN: Stage I In stage I, the tumor is in the uterus only. Stage II In stage II, cancer has spread outside of the uterus to the ovary, fallopian tube, vagina, and/or the ligaments that support the uterus. Stage III In stage III, cancer has spread to the lung. Stage IV In stage IV, cancer has spread to distant parts of the body other than the lungs. The treatment of gestational trophoblastic neoplasia is based on the type of disease, stage, or risk group. Invasive moles and choriocarcinomas are treated based on risk groups. The stage of the invasive mole or choriocarcinoma is one factor used to determine risk group. Other factors include the following: - The age of the patient when the diagnosis is made. - Whether the GTN occurred after a molar pregnancy, miscarriage, or normal pregnancy. - How soon the tumor was diagnosed after the pregnancy began. - The level of beta human chorionic gonadotropin (-hCG) in the blood. - The size of the largest tumor. - Where the tumor has spread to and the number of tumors in the body. - How many chemotherapy drugs the tumor has been treated with (for recurrent or resistant tumors). There are two risk groups for invasive moles and choriocarcinomas: low risk and high risk. Patients with low-risk disease usually receive less aggressive treatment than patients with high-risk disease. Placental-site trophoblastic tumor (PSTT) and epithelioid trophoblastic tumor (ETT) treatments depend on the stage of disease. </s>

<s>[INST] Human: What is (are) Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy ? [/INST] Assistant: Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy, commonly known as CARASIL, is an inherited condition that causes stroke and other impairments. This progressive condition is characterized by muscle stiffness, mood and personality changes, dementia, memory loss, alopecia of the scalp, and attacks of low back pain. CARASIL is caused by mutations in the HTRA1 gene. It is inherited in an autosomal recessive pattern. </s>

<s>[INST] Human: What is (are) What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ? [/INST] Assistant: Interstitial cystitis*painful bladder syndrome (IC/PBS) is one of several conditions that causes bladder pain and a need to urinate frequently and urgently. Some doctors have started using the term bladder pain syndrome (BPS) to describe this condition. Your bladder is a balloon-shaped organ where your body holds urine. When you have a bladder problem, you may notice certain signs or symptoms. *See Pronounciation Guide for tips on how to say the words in bold type. </s>

<s>[INST] Human: What are the treatments for Troyer syndrome ? [/INST] Assistant: How might Troyer syndrome be treated? There are currently no treatments known to prevent or slow the progression of Troyer syndrome. Treatment aims to relieve symptoms of the disease and improve quality of life. Treatment for spasticity involves both exercise and medication, especially baclofen (Lioresal), which is used either orally or by intrathecal pump. Tizanidine, dantrolene (with precautions), and Botox have also been useful in reducing muscle spasticity. Daily physical therapy is recommended. Treatment may also include: Occupational therapy, assistive walking devices, and ankle-foot orthotics as needed Oxybutynin to reduce urinary urgency Antidepressants or mood stabilizers to manage emotional or mood disorders Additional information about the management of Troyer syndrome can be viewed on the GeneReviews Web site. </s>

<s>[INST] Human: what research (or clinical trials) is being done for Megalencephaly ? [/INST] Assistant: The National Institute of Neurological Disorders and Stroke (NINDS) and other institutes of the National Institutes of Health (NIH) conduct research related to megalencephaly in laboratories at the NIH and also support additional research through grants to major medical institutions across the country. Much of this research explores the complex mechanisms of normal brain development. The knowledge gained from these fundamental studies will provide a foundation for developing ways to prevent megalencephaly and the other cephalic disorders. </s>

<s>[INST] Human: What is the outlook for Incontinentia Pigmenti ? [/INST] Assistant: Although the skin abnormalities usually regress, and sometimes disappear completely, there may be residual neurological difficulties. </s>

<s>[INST] Human: What is (are) Psoriasis ? [/INST] Assistant: Light therapy, also called phototherapy, uses ultraviolet light to treat skin lesions. Laser therapy delivers intense, focused doses of light to specific areas of the skin to clear lesions without harming surrounding tissues. </s>

<s>[INST] Human: What causes Hyperthyroidism ? [/INST] Assistant: Hyperthyroidism has several causes, including - Graves disease - thyroid nodules - thyroiditis, or inflammation of the thyroid - consuming too much iodine - overmedicating with synthetic thyroid hormone, which is used to treat underactive thyroid Rarely, hyperthyroidism is caused by a pituitary adenoma, which is a noncancerous tumor of the pituitary gland. In this case, hyperthyroidism is due to too much TSH. Graves Disease Graves disease, also known as toxic diffuse goiter, is the most common cause of hyperthyroidism in the United States. Graves disease is an autoimmune disorder. Normally, the immune system protects the body from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. But in autoimmune diseases, the immune system attacks the bodys own cells and organs. With Graves disease, the immune system makes an antibody called thyroid stimulating immunoglobulin (TSI) that attaches to thyroid cells. TSI mimics the action of TSH and stimulates the thyroid to make too much thyroid hormone. More information is provided in the NIDDK health topic, Graves' disease. Thyroid Nodules Thyroid nodules, also called adenomas, are lumps in the thyroid. Thyroid nodules are common and usually noncancerous. About 3 to 7 percent of the U.S. population has them.2 However, nodules may become overactive and produce too much hormone. A single overactive nodule is called a toxic adenoma. Multiple overactive nodules are called toxic multinodular goiter. Often found in older adults, toxic multinodular goiter can produce a large amount of excess thyroid hormone. Thyroiditis Thyroiditis is an inflammation of the thyroid that causes stored thyroid hormone to leak out of the thyroid gland. At first, the leakage raises hormone levels in the blood, leading to hyperthyroidism that lasts for 1 or 2 months. Most people then develop hypothyroidismwhen thyroid hormone levels are too lowbefore the thyroid is completely healed. Several types of thyroiditis can cause hyperthyroidism followed by hypothyroidism: - Subacute thyroiditis. This condition involves painful inflammation and enlargement of the thyroid. Experts are not sure what causes subacute thyroiditis, but it may be related to a viral or bacterial infection. The condition usually goes away on its own in a few months. - Postpartum thyroiditis. This type of thyroiditis develops after a woman gives birth. For more information, see the section titled What happens with pregnancy and thyroid conditions? - Silent thyroiditis. This type of thyroiditis is called silent because it is painless, as is postpartum thyroiditis, even though the thyroid may be enlarged. Like postpartum thyroiditis, silent thyroiditis is probably an autoimmune condition and sometimes develops into permanent hypothyroidism. Consuming Too Much Iodine The thyroid uses iodine to make thyroid hormone, so the amount of iodine consumed influences the amount of thyroid hormone the thyroid makes. In some people, consuming large amounts of iodine may cause the thyroid to make excess thyroid hormone. Sometimes significant amounts of iodine are contained in medicationssuch as amiodarone, which is used to treat heart problemsor in supplements containing seaweed. Some cough syrups also contain large amounts of iodine. See Eating, Diet, and Nutrition for more information on iodine. Overmedicating with Synthetic Thyroid Hormone Some people who take synthetic thyroid hormone for hypothyroidism may take too much. People who take synthetic thyroid hormone should see their health care provider at least once a year to have their thyroid hormone levels checked and follow the health care providers instructions about the dosage. Some other medications may also interact with synthetic thyroid hormone to raise hormone levels in the blood. People who take synthetic thyroid hormone should ask their health care provider about interactions when starting new medications. </s>

<s>[INST] Human: Is nephrogenic diabetes insipidus inherited ? [/INST] Assistant: When nephrogenic diabetes insipidus results from mutations in the AVPR2 gene, the condition has an X-linked recessive pattern of inheritance. The AVPR2 gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. However, some females who carry a single mutated copy of the AVPR2 gene have features of nephrogenic diabetes insipidus, including polyuria and polydipsia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. When nephrogenic diabetes insipidus is caused by mutations in the AQP2 gene, it can have either an autosomal recessive or, less commonly, an autosomal dominant pattern of inheritance. In autosomal recessive inheritance, 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. In autosomal dominant inheritance, one mutated copy of the AQP2 gene in each cell is sufficient to cause the disorder. </s>

<s>[INST] Human: What is (are) Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ? [/INST] Assistant: HEM (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands and feet, a "moth-eaten" appearance of the skeleton, flat vertebral bodies and ectopic calcifications. HEM is an autosomal recessive condition caused by a mutation in the lamin B receptor (LBR) gene. No treatment or cure is currently known for HEM. </s>

<s>[INST] Human: What are the treatments for Nijmegen breakage syndrome ? [/INST] Assistant: These resources address the diagnosis or management of Nijmegen breakage syndrome: - Boston Children's Hospital: Pneumonia in Children - Boston Children's Hospital: Sinusitis in Children - Cleveland Clinic: Bronchitis - Gene Review: Gene Review: Nijmegen Breakage Syndrome - Genetic Testing Registry: Microcephaly, normal intelligence and immunodeficiency 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 </s>

<s>[INST] Human: What is (are) Heart Attack ? [/INST] Assistant: Blood Flow to the Heart Is Blocked The heart works 24 hours a day, pumping oxygen and nutrient-rich blood to the body. Blood is supplied to the heart through its coronary arteries. If a blood clot suddenly blocks a coronary artery, it cuts off most or all blood supply to the heart, and a heart attack results. If blood flow isn't restored quickly, the section of heart muscle begins to die. The more time that passes without treatment to restore blood flow, the greater the damage to the heart. Affects Both Men and Women Heart attacks are a leading killer of both men and women in the United States. Each year, more than one million people in the U.S. have a heart attack and about half of them die. Half of those who die do so within one hour of the start of symptoms and before reaching the hospital. The good news is that excellent treatments are available for heart attacks. These treatments can save lives and prevent disabilities. Prompt Treatment Is Important Heart attack treatment works best when it's given right after symptoms occur. Prompt treatment of a heart attack can help prevent or limit damage to the heart and prevent sudden death. Call 9-1-1 Right Away A heart attack is an emergency. Call 9-1-1 for an ambulance right away -- within 5 minutes -- if you think you or someone else may be having a heart attack. You also should call for help if your chest pain doesn't go away as it usually does when you take medicine prescribed for angina (chest pain). Do not drive to the hospital or let someone else drive you. Emergency personnel in the ambulance can begin life-saving treatment on the way to the emergency room. They carry drugs and equipment that can help your medical condition, including - oxygen - aspirin to prevent further blood clotting - heart medications, such as nitroglycerin - pain relief treatments - defibrillators that can restart the heart if it stops beating. oxygen aspirin to prevent further blood clotting heart medications, such as nitroglycerin pain relief treatments defibrillators that can restart the heart if it stops beating. If blood flow in the blocked artery can be restored quickly, permanent heart damage may be prevented. Yet, many people do not seek medical care for 2 hours or more after symptoms start. </s>

<s>[INST] Human: What are the symptoms of Facioscapulohumeral muscular dystrophy ? [/INST] Assistant: What are the signs and symptoms of Facioscapulohumeral muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Facioscapulohumeral muscular dystrophy. 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% Hyperlordosis 90% Mask-like facies 90% Skeletal muscle atrophy 90% Abnormality of the eyelashes 50% Palpebral edema 50% Sensorineural hearing impairment 50% Abnormality of the retinal vasculature 7.5% Dysphagia 5% Abdominal wall muscle weakness - Autosomal dominant inheritance - Calf muscle hypertrophy - Childhood onset - Elevated serum creatine phosphokinase - External ophthalmoplegia - Exudative retinal detachment - Facial palsy - Intellectual disability - Restrictive respiratory insufficiency - Retinal telangiectasia - Scapular winging - Scapulohumeral muscular dystrophy - Seizures - Shoulder girdle muscle atrophy - Shoulder girdle muscle weakness - Slow progression - Tongue 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. </s>

<s>[INST] Human: Is Rabson-Mendenhall syndrome inherited ? [/INST] Assistant: 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. </s>

<s>[INST] Human: How to diagnose Urinary Tract Infections in Children ? [/INST] Assistant: Only a health care provider can determine whether a child has a UTI. A urine sample will be collected and examined. The way urine is collected depends on the childs age: - If the child is not yet toilet trained, the health care provider may place a plastic collection bag over the childs genital area. The bag will be sealed to the skin with an adhesive strip. If this method is used, the bag should be removed right after the child has urinated, and the urine sample should be processed immediately. Because bacteria from the skin can contaminate this sample, the methods listed below are more accurate. - A health care provider may need to pass a small tube called a catheter into the urethra of an infant. Urine will drain directly from the bladder into a clean container. - Sometimes the best way to collect a urine sample from an infant is by placing a needle directly into the bladder through the skin of the lower abdomen. Getting urine through a catheter or needle will ensure that the urine collected does not contain bacteria from the skin. - An older child may be asked to urinate into a container. The sample needs to come as directly into the container as possible to avoid picking up bacteria from the skin or rectal area. Some of the urine will be examined with a microscope. If an infection is present, bacteria and sometimes pus will be found in the urine. A urine culture should also be performed on some of the urine. The culture is performed by placing part of the urine sample in a tube or dish with a substance that encourages any bacteria present to grow. Once the bacteria have multiplied, which usually takes 1 to 3 days, they can be identified. The reliability of the culture depends on how the urine is collected and how long the urine stands before the culture is started. If the urine sample is collected at home, it should be refrigerated as soon as it is collected. The container should be carried to the health care provider or lab in a plastic bag filled with ice. The health care provider may also order a sensitivity test, which tests the bacteria for sensitivity to different antibiotics to see which medication is best for treating the infection. </s>

<s>[INST] Human: What causes Gum (Periodontal) Disease ? [/INST] Assistant: Gum disease is caused by dental plaque -- a sticky film of bacteria that builds up on teeth. Regular brushing and flossing help get rid of plaque. But plaque that is not removed can harden and form tartar that brushing doesn't clean. Only a professional cleaning by a dentist or dental hygienist can remove tartar. </s>

<s>[INST] Human: What is (are) Intestinal Cancer ? [/INST] Assistant: Your small intestine is part of your digestive system. It is a long tube that connects your stomach to your large intestine. Intestinal cancer is rare, but eating a high-fat diet or having Crohn's disease, celiac disease, or a history of colonic polyps can increase your risk. Possible signs of small intestine cancer include - Abdominal pain - Weight loss for no reason - Blood in the stool - A lump in the abdomen Imaging tests that create pictures of the small intestine and the area around it can help diagnose intestinal cancer and show whether it has spread. Surgery is the most common treatment. Additional options include chemotherapy, radiation therapy, or a combination. NIH: National Cancer Institute </s>

<s>[INST] Human: What to do for Medullary Sponge Kidney ? [/INST] Assistant: - Medullary sponge kidney, also known as Cacchi-Ricci disease, is a birth defect where changes occur in the tubules, or tiny tubes, inside a fetus kidneys. - Symptoms of medullary sponge kidney do not usually appear until the teenage years or the 20s. Medullary sponge kidney can affect one or both kidneys. - Complications of medullary sponge kidney include - hematuria, or blood in the urine - kidney stones - urinary tract infections (UTIs) - Many people with medullary sponge kidney have no symptoms. The first sign that a person has medullary sponge kidney is usually a UTI or a kidney stone. UTIs and kidney stones share many of the same signs and symptoms: - burning or painful urination - pain in the back, lower abdomen, or groin - cloudy, dark, or bloody urine - foul-smelling urine - fever and chills - vomiting - Health care providers commonly choose one or more of three imaging techniques to diagnose medullary sponge kidney: - intravenous pyelogram - computerized tomography (CT) scan - ultrasound - Scientists have not discovered a way to reverse medullary sponge kidney. Once a health care provider is sure a person has medullary sponge kidney, treatment focuses on - curing an existing UTI - removing any kidney stones - Scientists have not yet found a way to prevent medullary sponge kidney. However, health care providers can recommend medications and dietary changes to prevent future UTIs and kidney stones. </s>

<s>[INST] Human: What are the treatments for hereditary cerebral amyloid angiopathy ? [/INST] Assistant: These resources address the diagnosis or management of hereditary cerebral amyloid angiopathy: - Genetic Testing Registry: Cerebral amyloid angiopathy, APP-related - Genetic Testing Registry: Dementia familial British - Genetic Testing Registry: Dementia, familial Danish - Genetic Testing Registry: Hereditary cerebral amyloid angiopathy, Icelandic type - Johns Hopkins Medicine: Intracerebral Hemorrhage - MedlinePlus Encyclopedia: Cerebral Amyloid Angiopathy 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 </s>

<s>[INST] Human: What is (are) Apraxia ? [/INST] Assistant: Apraxia (called "dyspraxia" if mild) is a neurological disorder characterized by loss of the ability to execute or carry out skilled movements and gestures, despite having the desire and the physical ability to perform them. Apraxia results from dysfunction of the cerebral hemispheres of the brain, especially the parietal lobe, and can arise from many diseases or damage to the brain. There are several kinds of apraxia, which may occur alone or together. The most common is buccofacial or orofacial apraxia, which causes the inability to carry out facial movements on command such as licking lips, whistling, coughing, or winking. Other types of apraxia include limb-kinetic apraxia (the inability to make fine, precise movements with an arm or leg), ideomotor apraxia (the inability to make the proper movement in response to a verbal command), ideational apraxia (the inability to coordinate activities with multiple, sequential movements, such as dressing, eating, and bathing), verbal apraxia (difficulty coordinating mouth and speech movements), constructional apraxia (the inability to copy, draw, or construct simple figures), and oculomotor apraxia (difficulty moving the eyes on command). Apraxia may be accompanied by a language disorder called aphasia. Corticobasal ganglionic degeneration is a disease that causes a variety of types of apraxia, especially in elderly adults. </s>

<s>[INST] Human: What are the genetic changes related to myopathy with deficiency of iron-sulfur cluster assembly enzyme ? [/INST] Assistant: Myopathy with deficiency of iron-sulfur cluster assembly enzyme is caused by mutations in the ISCU gene. This gene provides instructions for making a protein called the iron-sulfur cluster assembly enzyme. As its name suggests, this enzyme is involved in the formation of clusters of iron and sulfur atoms (Fe-S clusters). These clusters are critical for the function of many different proteins, including those needed for DNA repair and the regulation of iron levels. Proteins containing Fe-S clusters are also necessary for energy production within mitochondria, which are the cell structures that convert the energy from food into a form that cells can use. Mutations in the ISCU gene severely limit the amount of iron-sulfur cluster assembly enzyme that is made in cells. A shortage of this enzyme prevents the normal production of proteins that contain Fe-S clusters, which disrupts a variety of cellular activities. A reduction in the amount of iron-sulfur cluster assembly enzyme is particularly damaging to skeletal muscle cells. Within the mitochondria of these cells, a lack of this enzyme causes problems with energy production and an overload of iron. These defects lead to exercise intolerance and the other features of myopathy with deficiency of iron-sulfur cluster assembly enzyme. </s>