umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Glutamate formiminotransferase deficiency ?

Answer: Glutamate formiminotransferase deficiency is an inherited metabolic disorder that affects physical and mental development. There are two forms of this condition, a mild form and a sever form. People with the mild form have minor delays in physical and mental development and may have mild intellectual disability. They also have unusually high levels of a molecule called formiminoglutamate (FIGLU) in their urine. Individuals with the severe form have profound intellectual disability, delayed development of motor skills (sitting, standing, and walking) and megaloblastic anemia. In addition to FIGLU in their urine, they have elevated amounts of certain B vitamins (called folates) in their blood. Glutamate formiminotransferase deficiency is caused by mutations in the FTCD gene. It is inherited in an autosomal recessive pattern.
Question: What is (are) Osteogenesis imperfecta type III ?

Answer: Osteogenesis imperfecta type III (OI type III) is a form of osteogenesis imperfecta, a group of genetic conditions that primarily affect the bones. In OI type III, specifically, a diagnosis can often be made shortly after birth as fractures (broken bones) during the newborn period simply from handling the infant are common. Other signs and symptoms vary significantly from person to person but may include severe bone fragility, bone malformations, short stature, dental problems (dentinogenesis imperfect), macrocephaly (unusually large head), hearing loss, and blue sclerae (whites of the eyes). Most affected people are unable to walk without assistance. OI type III is caused by changes (mutations) in the COL1A1 or COL1A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person.
Question: What causes Pelizaeus-Merzbacher disease ?

Answer: What causes Pelizaeus-Merzbacher disease? Pelizaeus-Merzbacher disease is caused by mutations in the PLP1 gene. This gene provides instructions for producing proteolipid protein 1 and a modified version (isoform) of proteolipid protein 1, called DM20. Proteolipid protein 1 and DM20 are primarily located in the central nervous system and are the main proteins found in myelin, the fatty covering that insulates nerve fibers. A lack of proteolipid protein 1 and DM20 can cause dysmyelination, which can impair nervous system function, resulting in the signs and symptoms of Pelizaeus-Merzbacher disease. It is estimated that 5 percent to 20 percent of people with Pelizaeus-Merzbacher disease do not have identified mutations in the PLP1 gene. In these cases, the cause of the condition is unknown.
Question: What is (are) Mixed connective tissue disease ?

Answer: Mixed connective tissue disease (MCTD) is a rare autoimmune disorder that is characterized by features commonly seen in three different connective tissue disorders: systemic lupus erythematosus, scleroderma, and polymyositis. Some affected people may also have symptoms of rheumatoid arthritis. Although MCTD can affect people of all ages, it appears to be most common in women under age 30. Signs and symptoms vary but may include Raynaud's phenomenon; arthritis; heart, lung and skin abnormalities; kidney disease; muscle weakness, and dysfunction of the esophagus. The cause of MCTD is currently unknown. There is no cure but certain medications such as nonsteroidal anti-inflammatory drugs (NSAIDs), corticosteroids and immunosuppresive drugs may help manage the symptoms.
Question: What are the treatments for VLCAD deficiency ?

Answer: How might VLCAD deficiency be treated? Management of VLCAD deficiency depends on many factors, including the form of the condition and the specific signs and symptoms present. For example, people affected by the severe forms of the condition are typically placed on a low-fat, high-carbohydrate diet with frequent meals. Supplemental calories may be provided through medium-chain triglycerides (MCT oil). If hospitalization is necessary for acute episodes of hypoglycemia and/or metabolic crisis, intravenous glucose may be administered as an energy source. Periods of rhabdomyolysis may be treated with hydration and alkalization of the urine (decreasing the amount of acid you take in) to protect kidney function and to prevent acute kidney failure. Affected people are generally advised to avoid fasting, dehydration, and a high-fat diet.
Question: What causes Fanconi Anemia ?

Answer: Fanconi anemia (FA) is an inherited disease. The term inherited means that the disease is passed from parents to children through genes. At least 13 faulty genes are associated with FA. FA occurs when both parents pass the same faulty FA gene to their child.
                
People who have only one faulty FA gene are FA "carriers." Carriers don't have FA, but they can pass the faulty gene to their children.
                
If both of your parents have a faulty FA gene, you have:
                
A 25 percent chance of having FA
                
A 25 percent chance of not having FA
                
A 50 percent chance of being an FA carrier and passing the gene to any children you have
                
If only one of your parents has a faulty FA gene, you won't have the disorder. However, you have a 50 percent chance of being an FA carrier and passing the gene to any children you have.
Question: Is atopic dermatitis inherited ?

Answer: Allergic disorders tend to run in families; having a parent with atopic dermatitis, asthma, or hay fever raises the chances a person will develop atopic dermatitis. When associated with FLG gene mutations, atopic dermatitis follows an autosomal dominant inheritance pattern, which means one copy of the altered FLG gene in each cell is sufficient to increase the risk of the disorder. Individuals with two altered copies of the gene are more likely to develop the disorder and can have more severe signs and symptoms than individuals with a single altered copy. When associated with other genetic factors, the inheritance pattern is unclear.  People with changes in one of the genes associated with atopic dermatitis, including FLG, inherit an increased risk of this condition, not the condition itself. Not all people with this condition have a mutation in an associated gene, and not all people with a variation in an associated gene will develop the disorder.
Question: What is (are) Crouzon syndrome ?

Answer: Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.  Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. People with Crouzon syndrome are usually of normal intelligence.
Question: Is X-linked creatine deficiency inherited ?

Answer: This condition is inherited in an X-linked pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. In females (who have two X chromosomes), a mutation in one of the two copies of the gene in each cell may or may not cause the disorder. In males (who have only one X chromosome), a mutation in the only copy of the gene in each cell causes the disorder. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In most cases of X-linked inheritance, males experience more severe symptoms of the disorder than females. About half of females with one mutated copy of the SLC6A8 gene in each cell have intellectual disability, learning difficulties, or behavioral problems. Other females with one mutated copy of the SLC6A8 gene in each cell have no noticeable neurological problems.
Question: What are the genetic changes related to neurofibromatosis type 1 ?

Answer: Mutations in the NF1 gene cause neurofibromatosis type 1.  The NF1 gene provides instructions for making a protein called neurofibromin. This protein is produced in many cells, including nerve cells and specialized cells surrounding nerves (oligodendrocytes and Schwann cells). Neurofibromin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in the NF1 gene lead to the production of a nonfunctional version of neurofibromin that cannot regulate cell growth and division. As a result, tumors such as neurofibromas can form along nerves throughout the body. It is unclear how mutations in the NF1 gene lead to the other features of neurofibromatosis type 1, such as caf-au-lait spots and learning disabilities.
Question: What are the genetic changes related to cyclic neutropenia ?

Answer: Mutations in the ELANE gene cause cyclic neutropenia. The ELANE gene provides instructions for making a protein called neutrophil elastase, which is found in neutrophils. When the body starts an immune response to fight an infection, neutrophils release neutrophil elastase. This protein then modifies the function of certain cells and proteins to help fight the infection.  ELANE gene mutations that cause cyclic neutropenia lead to an abnormal neutrophil elastase protein that seems to retain some of its function. However, neutrophils that produce abnormal neutrophil elastase protein appear to have a shorter lifespan than normal neutrophils. The shorter neutrophil lifespan is thought to be responsible for the cyclic nature of this condition. When the affected neutrophils die early, there is a period in which there is a shortage of neutrophils because it takes time for the body to replenish its supply.
Question: What are the symptoms of Ulcerative Colitis ?

Answer: The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort. Other signs and symptoms include
                
- an urgent need to have a bowel movement  - feeling tired  - nausea or loss of appetite  - weight loss  - fever  - anemiaa condition in which the body has fewer red blood cells than normal
                
Less common symptoms include
                
- joint pain or soreness  - eye irritation  - certain rashes
                
The symptoms a person experiences can vary depending on the severity of the inflammation and where it occurs in the intestine. When symptoms first appear,
                
- most people with ulcerative colitis have mild to moderate symptoms  - about 10 percent of people can have severe symptoms, such as frequent, bloody bowel movements; fevers; and severe abdominal cramping1
Question: What is (are) What I need to know about Kidney Stones ?

Answer: The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are two bean-shaped organs, each about the size of a fist. They are located near the middle of the back, just below the rib cage, one on each side of the spine. Every day, the two kidneys process about 200 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra water. The urine flows from the kidneys to the bladder through tubes called ureters.
                
The bladder stores urine until releasing it through urination. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.
Question: What is (are) Viral Hepatitis: A through E and Beyond ?

Answer: Viral hepatitis is inflammation of the liver caused by a virus. Several different viruses, named the hepatitis A, B, C, D, and E viruses, cause viral hepatitis.
                
All of these viruses cause acute, or short-term, viral hepatitis. The hepatitis B, C, and D viruses can also cause chronic hepatitis, in which the infection is prolonged, sometimes lifelong. Chronic hepatitis can lead to cirrhosis, liver failure, and liver cancer.
                
Researchers are looking for other viruses that may cause hepatitis, but none have been identified with certainty. Other viruses that less often affect the liver include cytomegalovirus; Epstein-Barr virus, also called infectious mononucleosis; herpesvirus; parvovirus; and adenovirus.
Question: What is (are) Chemical Emergencies ?

Answer: When a hazardous chemical has been released, it may harm people's health. Chemical releases can be unintentional, as in the case of an industrial accident. They could also be planned, as in the case of a terrorist attack with a chemical weapon.    Some hazardous chemicals have been developed by military organizations for use in warfare. Examples are nerve agents such as sarin and VX. Many hazardous chemicals are used in industry - for example, chlorine, ammonia, and benzene. Some can be made from everyday items such as household cleaners.    Although there are no guarantees of safety during a chemical emergency, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope.    Centers for Disease Control and Prevention
Question: What is (are) Parasitic Diseases ?

Answer: Parasites are living things that use other living things - like your body - for food and a place to live. You can get them from contaminated food or water, a bug bite, or sexual contact. Some parasitic diseases are easily treated and some are not.    Parasites range in size from tiny, one-celled organisms called protozoa to worms that can be seen with the naked eye. Some parasitic diseases occur in the United States. Contaminated water supplies can lead to Giardia infections. Cats can transmit toxoplasmosis, which is dangerous for pregnant women. Others, like malaria, are common in other parts of the world.     If you are traveling, it's important to drink only water you know is safe. Prevention is especially important. There are no vaccines for parasitic diseases. Some medicines are available to treat parasitic infections.
Question: What is (are) Floods ?

Answer: Floods are common in the United States. Weather such as heavy rain, thunderstorms, hurricanes, or tsunamis can cause flooding. Flooding can also happen when a river or stream overflows its bank, when a levee is breached, or when a dam breaks. Flash floods, which can develop quickly, often have a dangerous wall of roaring water. The wall carries rocks, mud, and rubble and can sweep away most things in its path.    Be aware of flood hazards no matter where you live, but especially if you live in a low-lying area, near water or downstream from a dam. Although there are no guarantees of safety during a flood, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope.    Federal Emergency Management Agency
Question: What is (are) Temporomandibular Joint Dysfunction ?

Answer: The temporomandibular joint (TMJ) connects your jaw to the side of your head. When it works well, it enables you to talk, chew, and yawn. For people with TMJ dysfunction, problems with the joint and muscles around it may cause        -  Pain that travels through the face, jaw, or neck    -  Stiff jaw muscles    -  Limited movement or locking of the jaw     -  Painful clicking or popping in the jaw     -  A change in the way the upper and lower teeth fit together       Jaw pain may go away with little or no treatment. Treatment may include simple things you can do yourself, such as eating soft foods or applying ice packs. It may also include pain medicines or devices to insert in your mouth. In rare cases, you might need surgery.     NIH: National Institute of Dental and Craniofacial Research
Question: What is (are) Constipation ?

Answer: Constipation means that a person has three or fewer bowel movements in a week. The stool can be hard and dry. Sometimes it is painful to pass. At one time or another, almost everyone gets constipated. In most cases, it lasts a short time and is not serious.     There are many things you can do to prevent constipation. They include       -  Eating more fruits, vegetables and grains, which are high in fiber    -  Drinking plenty of water and other liquids    -  Getting enough exercise    -  Taking time to have a bowel movement when you need to    -  Using laxatives only if your doctor says you should    -  Asking your doctor if medicines you take may cause constipation           It's not important that you have a bowel movement every day. If your bowel habits change, however, check with your doctor.     NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Sweat ?

Answer: Sweat is a clear, salty liquid produced by glands in your skin. Sweating is how your body cools itself. You sweat mainly under your arms and on your feet and palms. When sweat mixes with bacteria on your skin, it can cause a smell. Bathing regularly and using antiperspirants or deodorants can help control the odor.     Sweating a lot is normal when it is hot or when you exercise, are anxious, or have a fever. It also happens during menopause. If you often sweat too much, it's called hyperhidrosis. Causes include thyroid or nervous system disorders, low blood sugar, or another health problem.     Sweating too little, anhidrosis, can be life-threatening because your body can overheat. Causes of anhidrosis include dehydration, burns, and some skin and nerve disorders.
Question: What is (are) Vaginal Cancer ?

Answer: Vaginal cancer is a rare type of cancer. It is more common in women 60 and older. You are also more likely to get it if you have had a human papillomavirus (HPV) infection or if your mother took diethylstilbestrol (DES) when she was pregnant. Doctors prescribed DES in the 1950's to prevent miscarriages. You are also at higher risk if you have had abnormal cells in the vagina, cervix, or uterus.    It often doesn't have early symptoms. However, see your doctor if you notice       - Bleeding that is not your period    - A vaginal lump     - Pelvic pain        A Pap test can find abnormal cells that may be cancer. Vaginal cancer can often be cured in its early stages. Treatment might include surgery, radiation therapy, and chemotherapy.    NIH: National Cancer Institute
Question: What is (are) Central core disease ?

Answer: Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications.  Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected. Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures).  Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat.  RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations.
Question: What is (are) 47 XXX syndrome ?

Answer: 47 XXX syndrome, also called trisomy X or triple X syndrome, is characterized by the presence of an additional (third) X chromosome in each of a female's cells (which normally have two X chromosomes). An extra copy of the X chromosome is associated with tall stature, learning problems, and other features in some girls and women. Seizures or kidney abnormalities occur in about 10 percent of affected females. 47 XXX syndrome is usually caused by a random event during the formation of reproductive cells (eggs and sperm). An error in cell division called nondisjunction can result in reproductive cells with an abnormal number of chromosomes. Treatment typically focuses on specific symptoms, if present. Some females with 47 XXX syndrome have an extra X chromosome in only some of their cells; this is called 46,XX/47,XXX mosaicism.
Question: What causes Muir-Torre syndrome ?

Answer: What causes Muir-Torre syndrome? Muir-Torre syndrome is a subtype of Lynch syndrome and may be caused by changes (mutations) in either the MLH1, MSH2, or MSH6 gene. These genes give the body instructions to make proteins needed for repairing DNA. The proteins help fix mistakes that are made when DNA is copied before cells divide. When one of these genes is mutated and causes the related protein to be absent or nonfunctional, the number of DNA mistakes that do not get repaired increases substantially. The affected cells do not function normally, increasing the risk of tumor formation. The MSH2 gene is responsible for MTS in the majority of cases. Mutations in MLH1 and MSH2 have the most severe effect. Not everyone diagnosed with MTS will have a detectable mutation in one of these genes. Other, unidentified genes may also play a role in the development of the condition.
Question: What is (are) Intestinal pseudo-obstruction ?

Answer: Intestinal pseudo-obstruction is a digestive disorder in which the intestinal walls are unable to contract normally (called hypomotility); the condition resembles a true obstruction, but no actual blockage exists. Signs and symptoms may include abdominal pain; vomiting; diarrhea; constipation; malabsorption of nutrients leading to weight loss and/or failure to thrive; and other symptoms. It may be classified as neuropathic (from lack of nerve function) or myopathic (from lack of muscle function), depending on the source of the abnormality. The condition is sometimes inherited (in an X-linked recessive or autosomal dominant manner) and may be caused by mutations in the FLNA gene; it may also be acquired after certain illnesses. The goal of treatment is to provide relief from symptoms and ensure that nutritional support is adequate.
Question: What causes Madelung disease ?

Answer: What causes Madelung disease? The exact underlying cause of Madelung disease remains unknown, but several theories have been proposed. The body's inability to properly metabolize fat in affected people suggests that Madelung disease may be an endocrine disorder. An enzyme defect or a change in the surface of cells could prevent the breakdown of fat leading to the characteristic signs and symptoms of the condition. Alcohol consumption may also play a role in the development of Madelung disease since roughly 90% of affected people have a history of alcohol abuse. Madelung disease has also been linked to genetic factors. Rarely, more than one family member can be affected by this condition which suggests that it may be inherited in at least some cases. In the majority of these families, the mode of inheritance has not been determined. However, changes (mutations) in mitochondrial DNA have been identified in some families who have Madelung disease in combination with other conditions that affect many different systems of the body.