umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to paroxysmal extreme pain disorder ?

Answer: Mutations in the SCN9A gene cause paroxysmal extreme pain disorder. The SCN9A gene provides instructions for making one part (the alpha subunit) of a sodium channel called NaV1.7. Sodium channels transport positively charged sodium atoms (sodium ions) into cells and play a key role in a cell's ability to generate and transmit electrical signals. NaV1.7 sodium channels are found in nerve cells called nociceptors that transmit pain signals to the spinal cord and brain.  The SCN9A gene mutations that cause paroxysmal extreme pain disorder result in NaV1.7 sodium channels that do not close completely when it is turned off, allowing sodium ions to flow abnormally into nociceptors. This increase in sodium ions enhances transmission of pain signals, leading to the pain attacks experienced by people with paroxysmal extreme pain disorder. It is unknown why the pain attacks associated with this condition change location over time or what causes the other features of this condition such as seizures and changes in breathing.
Question: What are the genetic changes related to glycogen storage disease type I ?

Answer: Mutations in two genes, G6PC and SLC37A4, cause GSDI. G6PC gene mutations cause GSDIa, and SLC37A4 gene mutations cause GSDIb.  The proteins produced from the G6PC and SLC37A4 genes work together to break down a type of sugar molecule called glucose 6-phosphate. The breakdown of this molecule produces the simple sugar glucose, which is the primary energy source for most cells in the body.  Mutations in the G6PC and SLC37A4 genes prevent the effective breakdown of glucose 6-phosphate. Glucose 6-phosphate that is not broken down to glucose is converted to glycogen and fat so it can be stored within cells. Too much glycogen and fat stored within a cell can be toxic. This buildup damages organs and tissues throughout the body, particularly the liver and kidneys, leading to the signs and symptoms of GSDI.
Question: Is congenital hypothyroidism inherited ?

Answer: Most cases of congenital hypothyroidism are sporadic, which means they occur in people with no history of the disorder in their family.  When inherited, the condition usually has an autosomal recessive inheritance pattern, which means both copies of the gene in each cell have mutations. Typically, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they do not show signs and symptoms of the condition.  When congenital hypothyroidism results from mutations in the PAX8 gene or from certain mutations in the TSHR or DUOX2 gene, the condition has an autosomal dominant pattern of inheritance, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these cases, an affected person inherits the mutation from one affected parent. Other cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) or in early embryonic development. These cases occur in people with no history of the disorder in their family.
Question: What are the genetic changes related to CHARGE syndrome ?

Answer: Mutations in the CHD7 gene cause more than half of all cases of CHARGE syndrome. The CHD7 gene provides instructions for making a protein that most likely regulates gene activity (expression) by a process known as chromatin remodeling. Chromatin is the complex of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly DNA is packaged. Chromatin remodeling is one way gene expression is regulated during development. When DNA is tightly packed, gene expression is lower than when DNA is loosely packed.  Most mutations in the CHD7 gene lead to the production of an abnormally short, nonfunctional CHD7 protein, which presumably disrupts chromatin remodeling and the regulation of gene expression. Changes in gene expression during embryonic development likely cause the signs and symptoms of CHARGE syndrome.  About one-third of individuals with CHARGE syndrome do not have an identified mutation in the CHD7 gene. Researchers suspect that other genetic and environmental factors may be involved in these individuals.
Question: What is (are) iron-refractory iron deficiency anemia ?

Answer: Iron-refractory iron deficiency anemia is one of many types of anemia, which is a group of conditions characterized by a shortage of healthy red blood cells. This shortage prevents the blood from carrying an adequate supply of oxygen to the body's tissues.  Iron-refractory iron deficiency anemia results from an inadequate amount (deficiency) of iron in the bloodstream. It is described as "iron-refractory" because the condition is totally resistant (refractory) to treatment with iron given orally and partially resistant to iron given in other ways, such as intravenously (by IV). In people with this form of anemia, red blood cells are abnormally small (microcytic) and pale (hypochromic). The symptoms of iron-refractory iron deficiency anemia can include tiredness (fatigue), weakness, pale skin, and other complications. These symptoms are most pronounced during childhood, although they tend to be mild. Affected individuals usually have normal growth and development.
Question: What are the treatments for amyotrophic lateral sclerosis ?

Answer: These resources address the diagnosis or management of amyotrophic lateral sclerosis:  - Gene Review: Gene Review: ALS2-Related Disorders  - Gene Review: Gene Review: Amyotrophic Lateral Sclerosis Overview  - Gene Review: Gene Review: C9orf72-Related Amyotrophic Lateral Sclerosis and Frontotemporal Dementia  - Gene Review: Gene Review: TARDBP-Related Amyotrophic Lateral Sclerosis  - Genetic Testing Registry: Amyotrophic lateral sclerosis  - Genetic Testing Registry: Amyotrophic lateral sclerosis type 1  - Massachusetts General Hospital: How is ALS Diagnosed?  - MedlinePlus Encyclopedia: Amyotrophic Lateral Sclerosis   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
Question: What are the genetic changes related to Weyers acrofacial dysostosis ?

Answer: Most cases of Weyers acrofacial dysostosis result from mutations in the EVC2 gene. A mutation in a similar gene, EVC, has been found in at least one person with the characteristic features of the disorder. Little is known about the function of the EVC and EVC2 genes, although they appear to play important roles in cell-to-cell signaling during development. In particular, the proteins produced from these genes are thought to help regulate the Sonic Hedgehog signaling pathway. This pathway plays roles in cell growth, cell specialization, and the normal shaping (patterning) of many parts of the body.  The mutations that cause Weyers acrofacial dysostosis result in the production of an abnormal EVC or EVC2 protein. It is unclear how the abnormal proteins lead to the specific signs and symptoms of this condition. Studies suggest that they interfere with Sonic Hedgehog signaling in the developing embryo, disrupting the formation and growth of the teeth, nails, and bones.
Question: What is (are) Your Guide to Diabetes: Type 1 and Type 2 ?

Answer: Diabetes is when your blood glucose, also called blood sugar, is too high. Blood glucose is the main type of sugar found in your blood and your main source of energy. Glucose comes from the food you eat and is also made in your liver and muscles. Your blood carries glucose to all of your bodys cells to use for energy.
                
Your pancreasan organ, located between your stomach and spine, that helps with digestionreleases a hormone it makes, called insulin, into your blood. Insulin helps your blood carry glucose to all your bodys cells. Sometimes your body doesnt make enough insulin or the insulin doesnt work the way it should. Glucose then stays in your blood and doesnt reach your cells. Your blood glucose levels get too high and can cause diabetes or prediabetes.
                
Over time, having too much glucose in your blood can cause health problems.
                
*See the Pronunciation Guide for tips on how to say the the words in bold type.
Question: What are the treatments for Alcohol Use and Older Adults ?

Answer: Prescription medicines can help people with alcohol use disorder reduce their drinking, avoid going back to heavy drinking, and get sober. None of them works in every person. There are three medications approved by the U.S. Food and Drug Administration for the treatment of alcohol use disorder. - Naltrexone (Depade, ReVia, Vivitrol) acts in the brain to reduce craving for alcohol  -  Acamprosate (Campral) helps manage withdrawal symptoms such as anxiety, nausea, and sweating that may lead to a drinking relapse   - Disulfiram (Antabuse) makes a person feel sick after drinking alcohol.  Naltrexone (Depade, ReVia, Vivitrol) acts in the brain to reduce craving for alcohol Acamprosate (Campral) helps manage withdrawal symptoms such as anxiety, nausea, and sweating that may lead to a drinking relapse Disulfiram (Antabuse) makes a person feel sick after drinking alcohol.
Question: What is (are) Hodgkin Disease ?

Answer: Hodgkin disease is a type of lymphoma. Lymphoma is a cancer of a part of the immune system called the lymph system. The first sign of Hodgkin disease is often an enlarged lymph node. The disease can spread to nearby lymph nodes. Later it may spread to the lungs, liver, or bone marrow. The exact cause is unknown.     Hodgkin disease is rare. Symptoms include       - Painless swelling of the lymph nodes in the neck, armpits, or groin     - Fever and chills     - Night sweats     - Weight loss     - Loss of appetite     - Itchy skin       To diagnose Hodgkin disease, doctors use a physical exam and history, blood tests, and a biopsy. Treatment depends on how far the disease has spread. It often includes radiation therapy or chemotherapy.    The earlier the disease is diagnosed, the more effective the treatment. In most cases, Hodgkin disease can be cured.     NIH: National Cancer Institute
Question: What is (are) Child Behavior Disorders ?

Answer: All kids misbehave some times. And some may have temporary behavior problems due to stress. For example, the birth of a sibling, a divorce, or a death in the family may cause a child to act out. Behavior disorders are more serious. They involve a pattern of hostile, aggressive, or disruptive behaviors for more than 6 months. The behavior is also not appropriate for the child's age.    Warning signs can include       - Harming or threatening themselves, other people or pets    - Damaging or destroying property     - Lying or stealing     - Not doing well in school, skipping school     - Early smoking, drinking or drug use     - Early sexual activity     - Frequent tantrums and arguments     - Consistent hostility towards authority figures         If you see signs of a problem, ask for help. Poor choices can become habits. Kids who have behavior problems are at higher risk for school failure, mental health problems, and even suicide. Classes or family therapy may help parents learn to set and enforce limits. Talk therapy and behavior therapy for your child can also help.
Question: What is (are) Phobias ?

Answer: A phobia is a type of anxiety disorder. It is a strong, irrational fear of something that poses little or no real danger.    There are many specific phobias. Acrophobia is a fear of heights. Agoraphobia is a fear of public places, and claustrophobia is a fear of closed-in places. If you become anxious and extremely self-conscious in everyday social situations, you could have a social phobia. Other common phobias involve tunnels, highway driving, water, flying, animals and blood.     People with phobias try to avoid what they are afraid of. If they cannot, they may experience       - Panic and fear    - Rapid heartbeat    - Shortness of breath    - Trembling    - A strong desire to get away       Phobias usually start in children or teens, and continue into adulthood. The causes of specific phobias are not known, but they sometimes run in families.     Treatment helps most people with phobias. Options include medicines, therapy or both.    NIH: National Institute of Mental Health
Question: What is (are) Thalassemia ?

Answer: Thalassemias are inherited blood disorders. If you have one, your body makes fewer healthy red blood cells and less hemoglobin. Hemoglobin is a protein that carries oxygen to the body. That leads to anemia. Thalassemias occur most often among people of Italian, Greek, Middle Eastern, Southern Asian, and African descent.    Thalassemias can be mild or severe. Some people have no symptoms or mild anemia. The most common severe type in the United States is called Cooley's anemia. It usually appears during the first two years of life. People with it may have severe anemia, slowed growth and delayed puberty, and problems with the spleen, liver, heart, or bones.    Doctors diagnose thalassemias using blood tests. Treatments include blood transfusions and treatment to remove excess iron from the body. If you have mild symptoms or no symptoms, you may not need treatment. In some severe cases, you may need a bone marrow transplant.    NIH: National Heart, Lung, and Blood Institute
Question: Do you have information about Blood Sugar

Answer: Summary : Blood sugar, or glucose, is the main sugar found in your blood. It comes from the food you eat, and is your body's main source of energy. Your blood carries glucose to all of your body's cells to use for energy.    Diabetes is a disease in which your blood sugar levels are too high. Over time, having too much glucose in your blood can cause serious problems. Even if you don't have diabetes, sometimes you may have problems with blood sugar that is too low or too high. Keeping a regular schedule of eating, activity, and taking any medicines you need can help.    If you do have diabetes, it is very important to keep your blood sugar numbers in your target range. You may need to check your blood sugar several times each day. Your health care provider will also do a blood test called an A1C. It checks your average blood sugar level over the past three months. If your blood sugar is too high, you may need to take medicines and/or follow a special diet.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Brain Aneurysm ?

Answer: A brain aneurysm is an abnormal bulge or "ballooning" in the wall of an artery in the brain. They are sometimes called berry aneurysms because they are often the size of a small berry. Most brain aneurysms produce no symptoms until they become large, begin to leak blood, or burst.    If a brain aneurysm presses on nerves in your brain, it can cause signs and symptoms. These can include       - A droopy eyelid     - Double vision or other changes in vision     - Pain above or behind the eye     - A dilated pupil     - Numbness or weakness on one side of the face or body        Treatment depends on the size and location of the aneurysm, whether it is infected, and whether it has burst. If a brain aneurysm bursts, symptoms can include a sudden, severe headache, nausea and vomiting, stiff neck, loss of consciousness, and signs of a stroke. Any of these symptoms requires immediate medical attention.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Marfan Syndrome ?

Answer: Marfan syndrome is a disorder that affects connective tissue. Connective tissues are proteins that support skin, bones, blood vessels, and other organs. One of these proteins is fibrillin. A problem with the fibrillin gene causes Marfan syndrome.     Marfan syndrome can be mild to severe, and the symptoms can vary. People with Marfan syndrome are often very tall, thin, and loose jointed. Most people with Marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. They may also have problems with their bones, eyes, skin, nervous system, and lungs.    There is no single test to diagnose Marfan syndrome. Your doctor may use your medical history, family history, and a physical exam to diagnose it. Marfan syndrome has no cure, but treatments can help delay or prevent complications. Treatments include medicines, surgery, and other therapies.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Heart Failure ?

Answer: Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs. Heart failure does not mean that your heart has stopped or is about to stop working. It means that your heart is not able to pump blood the way it should. It can affect one or both sides of the heart.    The weakening of the heart's pumping ability causes       - Blood and fluid to back up into the lungs    - The buildup of fluid in the feet, ankles and legs - called edema    - Tiredness and shortness of breath       Common causes of heart failure are coronary artery disease, high blood pressure and diabetes. It is more common in people who are 65 years old or older, African Americans, people who are overweight, and people who have had a heart attack. Men have a higher rate of heart failure than women.    Your doctor will diagnose heart failure by doing a physical exam and heart tests. Treatment includes treating the underlying cause of your heart failure, medicines, and heart transplantation if other treatments fail.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Papillary renal cell carcinoma ?

Answer: Papillary renal cell carcinoma (PRCC) is a type of cancer that occurs in the kidneys. It accounts for about 10-15% of all renal cell carcinomas.Renal cell carcinomas are a type of kidney cancer that develop in the lining of very small tubes (tubules) in the kidney.The term "papillary" describes the finger-like projections that can be found in most of the tumors. PRCC can be divided into two types: type 1, which is more common and usually grows more slowly and type 2, which are usually more aggressive .Though the exact cause of papillary renal cell carcinoma is unknown, smoking, obesity, and genetic predisposition conditions (such as hereditary leiomyomatosis and renal cell cancer) may contribute to the development of this type of cancer. Treatment often begins with surgery to remove as much of the cancer as possible, and may be followed by radiation therapy, chemotherapy, biological therapy, or targeted therapy.
Question: What is (are) Littoral cell angioma of the spleen ?

Answer: Littoral cell angioma (LCA)  is a vascular tumor of the spleen. A vascular tumor is an overgrowth of blood vessels. The condition was first described in 1991. In many cases, LCA does not produce any symptoms and is found when tests are being performed for other reasons (an incidental finding). However, in some cases, individuals with LCA have an enlarged spleen (splenomegaly), abdominal pain, fever, and portal hypertension (increased pressure in the vein that carries blood from the digestive organs to the liver). Though most reported cases of LCA have been benign, some reports have associated LCA with various other conditions including Crohn's disease, Gaucher disease, lymphoma, aplastic anemia, colon cancer, pancreatic cancer, lung cancer, and myelodysplastic syndrome. In rare cases, the LCA itself can become cancerous. The treatment of choice is usually removal of the spleen (splenectomy).
Question: What are the treatments for Myxopapillary ependymoma ?

Answer: How might myxopapillary ependymoma be treated? Standard treatment of myxopapillary ependymoma is surgery with the aim of removing as much of the tumor as possible. This tumor type may be cured if all of the tumor is removed during surgery, which is referred to as total resection, and there is usually a favorable outlook in these cases. However, surgery is typically less curative in tumors that are large, multifocal or extend outside the spinal cord. These tumors have the potential to regrow after the initial diagnosis and surgery (recur), particularly in individuals diagnosed as children. Following surgery, radiation therapy may be considered to destroy any cancer cells that could remain in the body.  The use of chemotherapy as another treatment of myxopapillary ependymoma remains controversial; chemotherapy has been widely used in pediatric individuals due to more aggressive disease. The usefulness of additional therapies following surgery is unclear for the subset of individuals with recurrence or in individuals in whom total resection cannot be achieved.
Question: How to diagnose Dihydropyrimidine dehydrogenase deficiency ?

Answer: How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, which has led to the development of a radioenzymatic test for the DPD enzyme. This test has remained the gold standard for diagnosing DPD deficiency even after the development of genetic testing for the condition, because of the complexity of the DPYD gene and the presence of multiple DNA sequence variations present in most affected individuals. Various types of cells and tissues can be examined this way. More recently, a rapid, noninvasive, and cost-effective breath test was developed. This test permits the evaluation of DPD activity (normal activity and partial or profound deficiency) before the administration of fluoropyrmidine drugs such as 5-FU.
Question: How to diagnose Mosaic trisomy 9 ?

Answer: How is mosaic trisomy 9 diagnosed? In some cases, mosaic trisomy 9 is diagnosed before birth. A pregnancy ultrasound may reveal signs and symptoms that are suggestive of a chromosomal or developmental disorder. Additional tests, such as chorionic villus sampling (CVS) or an amniocentesis, may be offered to further investigate these features. During a CVS, a tissue sample from a portion of the placenta is removed and analyzed, while amniocentesis involves the removal of a sample of fluid that surrounds the developing baby. In both tests, the fluid or tissue sample is used to obtain a picture of the baby's chromosomes, which is called a karyotype. This may reveal mosaic trisomy 9. In other cases, the child is not diagnosed until after birth. Mosaic trisomy 9 may be suspected after characteristic signs and symptoms are identified on physical exam. A diagnosis can be confirmed by examining the child's chromosomes from a sample of blood.
Question: How to diagnose Schizencephaly ?

Answer: Is genetic testing available for schizencephaly? In rare cases, people affected by schizencephaly are found to have changes (mutations) in one of four genes: EMX2, SIX3, SHH, and COL4A1. Genetic testing is available for these families. How is schizencephaly diagnosed? Schizencephaly is typically diagnosed by computed tomography (CT) and/or magnetic resonance imaging (MRI). A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities such as the slits or clefts found in people with schizencephaly. In some cases, schizencephaly can also be diagnosed prenatally (before birth) on ultrasound after 20 weeks gestation. If clefting is seen on ultrasound, an MRI scan of the developing baby may be recommended to confirm the diagnosis.