umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to lactose intolerance ?

Answer: Lactose intolerance in infants (congenital lactase deficiency) is caused by mutations in the LCT gene. The LCT gene provides instructions for making the lactase enzyme. Mutations that cause congenital lactase deficiency are believed to interfere with the function of lactase, causing affected infants to have a severely impaired ability to digest lactose in breast milk or formula.  Lactose intolerance in adulthood is caused by gradually decreasing activity (expression) of the LCT gene after infancy, which occurs in most humans. LCT gene expression is controlled by a DNA sequence called a regulatory element, which is located within a nearby gene called MCM6. Some individuals have inherited changes in this element that lead to sustained lactase production in the small intestine and the ability to digest lactose throughout life. People without these changes have a reduced ability to digest lactose as they get older, resulting in the signs and symptoms of lactose intolerance.
Question: Is X-linked chondrodysplasia punctata 2 inherited ?

Answer: This condition is inherited in an X-linked dominant 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 EBP gene in each cell is sufficient to cause the disorder. Some cells produce a normal amount of 3-hydroxysteroid-8,7-isomerase and other cells produce none. The resulting overall reduction in the amount of this enzyme underlies the signs and symptoms of X-linked chondrodysplasia punctata 2.  In males (who have only one X chromosome), a mutation in the EBP gene can result in a total loss of 3-hydroxysteroid-8,7-isomerase. A complete lack of this enzyme is usually lethal in the early stages of development, so few males have been born with X-linked chondrodysplasia punctata 2.
Question: What is (are) supravalvular aortic stenosis ?

Answer: Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth. This defect is a narrowing (stenosis) of the large blood vessel that carries blood from the heart to the rest of the body (the aorta). The condition is described as supravalvular because the section of the aorta that is narrowed is located just above the valve that connects the aorta with the heart (the aortic valve). Some people with SVAS also have defects in other blood vessels, most commonly stenosis of the artery from the heart to the lungs (the pulmonary artery). An abnormal heart sound during a heartbeat (heart murmur) can often be heard during a chest exam. If SVAS is not treated, the aortic narrowing can lead to shortness of breath, chest pain, and ultimately heart failure.  The severity of SVAS varies considerably, even among family members. Some affected individuals die in infancy, while others never experience symptoms of the disorder.
Question: What is (are) argininosuccinic aciduria ?

Answer: Argininosuccinic aciduria is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia.  Argininosuccinic aciduria usually becomes evident in the first few days of life. An infant with argininosuccinic aciduria may be lacking in energy (lethargic) or unwilling to eat, and have poorly controlled breathing rate or body temperature. Some babies with this disorder experience seizures or unusual body movements, or go into a coma. Complications from argininosuccinic aciduria may include developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen.  Occasionally, an individual may inherit a mild form of the disorder in which ammonia accumulates in the bloodstream only during periods of illness or other stress.
Question: What are the symptoms of Amyloidosis and Kidney Disease ?

Answer: The symptoms of dialysis-related amyloidosis may include
                
- pain, stiffness, and fluid in the joints.  - abnormal, fluid-containing sacs, called cysts, in some bones.  - carpal tunnel syndrome, caused by unusual buildup of amyloid proteins in the wrists. The symptoms of carpal tunnel syndrome include numbness or tingling, sometimes associated with muscle weakness, in the fingers and hands.
                
Dialysis-related amyloidosis most often affects bones, joints, and the tissues that connect muscle to bone, called tendons. The disease may also affect the digestive tract and organs such as the heart and lungs. Bone cysts caused by dialysis-related amyloidosis can lead to bone fractures. Dialysis-related amyloidosis can also cause tears in tendons and ligaments. Ligaments are tissues that connect bones to other bones.
Question: What is (are) Interstitial Lung Diseases ?

Answer: Interstitial lung disease is the name for a large group of diseases that inflame or scar the lungs. The inflammation and scarring make it hard to get enough oxygen. The scarring is called pulmonary fibrosis.    Breathing in dust or other particles in the air is responsible for some types of interstitial lung diseases. Specific types include       - Black lung disease among coal miners, from inhaling coal dust    - Farmer's lung, from inhaling farm dust    - Asbestosis, from inhaling asbestos fibers    - Siderosis, from inhaling iron from mines or welding fumes    - Silicosis, from inhaling silica dust       Other causes include autoimmune diseases or occupational exposures to molds, gases, or fumes. Some types of interstitial lung disease have no known cause.    Treatment depends on the type of exposure and the stage of the disease. It may involve medicines, oxygen therapy, or a lung transplant in severe cases.
Question: What is (are) Vision Impairment and Blindness ?

Answer: If you have low vision, eyeglasses, contact lenses, medicine, or surgery may not help. Activities like reading, shopping, cooking, writing, and watching TV may be hard to do. The leading causes of low vision and blindness in the United States are age-related eye diseases: macular degeneration, cataract and glaucoma. Other eye disorders, eye injuries and birth defects can also cause vision loss.     Whatever the cause, lost vision cannot be restored. It can, however, be managed. A loss of vision means that you may have to reorganize your life and learn new ways of doing things. If you have some vision, visual aids such as special glasses and large print books can make life easier. There are also devices to help those with no vision, like text-reading software and braille books.    The sooner vision loss or eye disease is found and treated, the greater your chances of keeping your remaining vision. You should have regular comprehensive eye exams by an eye care professional.    NIH: National Eye Institute
Question: What is (are) Diabetic Kidney Problems ?

Answer: If you have diabetes, your blood glucose, or blood sugar, levels are too high. Over time, this can damage your kidneys. Your kidneys clean your blood. If they are damaged, waste and fluids build up in your blood instead of leaving your body.    Kidney damage from diabetes is called diabetic nephropathy. It begins long before you have symptoms. An early sign of it is small amounts of protein in your urine. A urine test can detect it. A blood test can also help determine how well your kidneys are working.    If the damage continues, your kidneys could fail. In fact, diabetes is the most common cause of kidney failure in the United States. People with kidney failure need either dialysis or a kidney transplant.    You can slow down kidney damage or keep it from getting worse. Controlling your blood sugar and blood pressure, taking your medicines and not eating too much protein can help.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: Do you have information about Indoor Air Pollution

Answer: Summary : We usually think of air pollution as being outdoors, but the air in your house or office could also be polluted. Sources of indoor pollution include       - Mold and pollen    - Tobacco smoke    - Household products and pesticides    - Gases such as radon and carbon monoxide      - Materials used in the building such as asbestos, formaldehyde and lead        Sometimes a group of people have symptoms that seem to be linked to time spent in a certain building. There may be a specific cause, such as Legionnaire's disease. Sometimes the cause of the illness cannot be found. This is known as sick building syndrome.    Usually indoor air quality problems only cause discomfort. Most people feel better as soon as they remove the source of the pollution. However, some pollutants can cause diseases that show up much later, such as respiratory diseases or cancer.    Making sure that your building is well-ventilated and getting rid of pollutants can improve the quality of your indoor air.    Environmental Protection Agency
Question: Do you have information about Alcohol

Answer: Summary : If you are like many Americans, you drink alcohol at least occasionally. For many people, moderate drinking is probably safe. It may even have health benefits, including reducing your risk of certain heart problems. For most women and for most people over 65, moderate drinking is no more than three drinks a day or seven drinks per week. For men under 65, it is no more than four drinks a day or 14 drinks per week.    Some people should not drink at all, including alcoholics, children, pregnant women, people taking certain medicines, and people with certain medical conditions. If you have questions about whether it is safe for you to drink, speak with your health care provider.    Anything more than moderate drinking can be risky. Heavy drinking can lead to alcoholism and alcohol abuse, as well as injuries, liver disease, heart disease, cancer, and other health problems. It can also cause problems at home, at work, and with friends.    NIH: National Institute on Alcohol Abuse and Alcoholism
Question: What is (are) Vascular Diseases ?

Answer: The vascular system is the body's network of blood vessels. It includes the arteries, veins and capillaries that carry blood to and from the heart. Problems of the vascular system are common and can be serious. Arteries can become thick and stiff, a problem called atherosclerosis. Blood clots can clog vessels and block blood flow to the heart or brain. Weakened blood vessels can burst, causing bleeding inside the body.     You are more likely to have vascular disease as you get older. Other factors that make vascular disease more likely include       -  Family history of vascular or heart diseases    -  Pregnancy    -  Illness or injury     -  Long periods of sitting or standing still    -  Any condition that affects the heart and blood vessels, such as diabetes or high cholesterol     -  Smoking     -  Obesity        Losing weight, eating healthy foods, being active and not smoking can help vascular disease. Other treatments include medicines and surgery.
Question: What is (are) Toxoplasmosis ?

Answer: Toxoplasmosis is a disease caused by the parasite Toxoplasma gondii. More than 60 million people in the U.S. have the parasite. Most of them don't get sick. But the parasite causes serious problems for some people. These include people with weak immune systems and babies whose mothers become infected for the first time during pregnancy. Problems can include damage to the brain, eyes, and other organs.    You can get toxoplasmosis from        -  Waste from an infected cat    -  Eating contaminated meat that is raw or not well cooked     -  Using utensils or cutting boards after they've had contact with contaminated raw meat     -  Drinking infected water     -  Receiving an infected organ transplant or blood transfusion       Most people with toxoplasmosis don't need treatment. There are drugs to treat it for pregnant women and people with weak immune systems.     Centers for Disease Control and Prevention
Question: What is (are) Complex Regional Pain Syndrome ?

Answer: Complex regional pain syndrome (CRPS) is a chronic pain condition. It causes intense pain, usually in the arms, hands, legs, or feet. It may happen after an injury, either to a nerve or to tissue in the affected area. Rest and time may only make it worse.    Symptoms in the affected area are       - Dramatic changes in skin temperature, color, or texture    - Intense burning pain    - Extreme skin sensitivity    - Swelling and stiffness in affected joints    - Decreased ability to move the affected body part       The cause of CRPS is unknown. There is no specific diagnostic test. Your doctor will diagnose CRPS based on your signs and symptoms.    There is no cure. It can get worse over time, and may spread to other parts of the body. Occasionally it goes away, either temporarily or for good. Treatment focuses on relieving the pain, and can include medicines, physical therapy, and nerve blocks.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Refractive Errors ?

Answer: The cornea and lens of your eye helps you focus. Refractive errors are vision problems that happen when the shape of the eye keeps you from focusing well. The cause could be the length of the eyeball (longer or shorter), changes in the shape of the cornea, or aging of the lens.    Four common refractive errors are       - Myopia, or nearsightedness - clear vision close up but blurry in the distance    - Hyperopia, or farsightedness - clear vision in the distance but blurry close up    - Presbyopia - inability to focus close up as a result of aging    - Astigmatism - focus problems caused by the cornea       The most common symptom is blurred vision. Other symptoms may include double vision, haziness, glare or halos around bright lights, squinting, headaches, or eye strain.    Glasses or contact lenses can usually correct refractive errors. Laser eye surgery may also be a possibility.    NIH: National Eye Institute
Question: What is (are) Croup ?

Answer: Croup is an inflammation of the vocal cords (larynx) and windpipe (trachea). It causes difficulty breathing, a barking cough, and a hoarse voice. The cause is usually a virus, often parainfluenza virus. Other causes include allergies and reflux.    Croup often starts out like a cold. But then the vocal cords and windpipe become swollen, causing the hoarseness and the cough. There may also be a fever and high-pitched noisy sounds when breathing. The symptoms are usually worse at night, and last for about three to five days. Children between the ages of 6 months and 3 years have the highest risk of getting croup. They may also have more severe symptoms. Croup is more common in the fall and winter.    Most cases of viral croup are mild and can be treated at home. Rarely, croup can become serious and interfere with your child's breathing. If you are worried about your child's breathing, call your health care provider right away.
Question: What is (are) Trichomoniasis ?

Answer: Trichomoniasis is a sexually transmitted disease caused by a parasite. You get it through sexual intercourse with an infected partner. Many people do not have any symptoms. If you do get symptoms, they usually happen within 5 to 28 days after being infected.    Symptoms in women include       - Yellow-green or gray discharge from the vagina    - Discomfort during sex    - Vaginal odor    - Painful urination    - Itching in or near the vagina       Most men do not have symptoms. If they do, they may have a whitish discharge from the penis and painful or difficult urination and ejaculation.    Lab tests can tell if you have the infection. Treatment is with antibiotics. If you are infected, you and your partner must be treated. Correct usage of latex condoms greatly reduces, but does not eliminate, the risk of catching or spreading trichomoniasis.    NIH: National Institute of Allergy and Infectious Diseases
Question: What is (are) Taste and Smell Disorders ?

Answer: Our senses of taste and smell give us great pleasure. Taste helps us enjoy food and beverages. Smell lets us enjoy the scents and fragrances like roses or coffee. Taste and smell also protect us, letting us know when food has gone bad or when there is a gas leak. They make us want to eat, ensuring we get the nutrition we need.     People with taste disorders may taste things that aren't there, may not be able to tell the difference in tastes, or can't taste at all. People with smell disorders may lose their sense of smell, or things may smell different. A smell they once enjoyed may now smell bad to them.     Many illnesses and injuries can cause taste and smell disorders, including colds and head injuries. Some drugs can also affect taste and smell. Most people lose some ability to taste and smell as they get older. Treatment varies, depending on the problem and its cause.     NIH: National Institute on Deafness and Other Communication Disorders
Question: What is (are) Eosinophilic enteropathy ?

Answer: Eosinophilic enteropathy is a condition that causes a type of white blood cell called an eosinophil to build up in the gastrointestinal system and in the blood. Eosinophils play a role in the bodys immune response by releasing toxins. Eosinophils are associated with allergic-type reactions, but their specific function is largely unknown.When eosinophils build up in the gastrointestinal tract, this begins to affect the body by causing polyps, tissue break down, inflammation, and ulcers. Eosinophilic enteropathy can occur in children or adults and is characterized by intolerance to some foods. Eosinophilic enteropathy can affect any part of the gastrointestinal tract, and is often named by the part affected: colon (colitis), esophagus (esophagitis), stomach (gastritis), or both the stomach and small intestine (gastroenteritis).
Question: What is (are) Limited systemic sclerosis ?

Answer: Systemic sclerosis ine scleroderma is a type of systemic scleroderma that is characterized by Raynaud's phenomenon and the buildup of scar tissue (fibrosis) on one or more internal organs but not the skin. While the exact cause of sine scleroderma is unknown, it is believed to originate from an autoimmune reaction which leads to the overproduction of collagen (a tough protein which normally strengthens and supports connective tissues throughout the body). When fibrosis affects internal organs, it can lead to impairment or failure of the affected organs. The most commonly affected organs are the esophagus, heart, lungs, and kidneys. Internal organ involvement may be signaled by heartburn, difficulty swallowing (dysphagia), high blood pressure (hypertension), kidney problems, shortness of breath, diarrhea, or impairment of the muscle contractions that move food through the digestive tract (intestinal pseudo-obstruction).
Question: What causes Albright's hereditary osteodystrophy ?

Answer: What causes Albright's hereditary osteodystrophy? Albright's hereditary osteodystophy is caused by mutations in the GNAS gene. Albright's hereditary osteodystrophy is transmitted as an autosomal dominant trait. The hormone resistance associated with Albright's hereditary osteodystrophy, in particular resistance to parathyroid hormone, depends on whether the mutated allele comes from the father or the mother. Within a family, some patients have isolated features of Albright's hereditary osteodystrophy without hormone resistance (called pseudopseudohypoparathyroidism) and some show the complete clinical picture. This is due to parental imprinting of the GNAS gene. Thus, in individuals with a mutated maternal GNAS allele, the disease is fully expressed while in individuals with a mutated paternal allele the disease is partially expressed and hormone resistance is not present.
Question: What are the symptoms of Mitochondrial genetic disorders ?

Answer: What are the signs and symptoms of mitochondrial genetic disorders? People with mitochondrial genetic disorders can present at any age with almost any affected body system. While some conditions may only affect a single organ, many involve multiple organ systems including the brain, muscles, heart, liver, nerves, eyes, ears and/or kidneys. Symptom severity can also vary widely. The most common signs and symptoms include: Poor growth Loss of muscle coordination Muscle weakness Seizures Autism Problems with vision and/or hearing Developmental delay Learning disabilities Heart, liver, and/or kidney disease Gastrointestinal disorders Diabetes Increased risk of infection Thyroid and/or adrenal abnormalities Autonomic dysfunction Dementia The United Mitochondrial Disease Foundation's website features a comprehensive list of possible symptoms (click here to see this information) and symptoms categorized by type of mitochondrial genetic disorder (click here to access this page).
Question: What is (are) Porencephaly ?

Answer: Porencephaly is a rare condition that affects the central nervous system. People with porencephaly develop fluid-filled cysts or cavities in the brain either before or shortly after birth. The severity of the condition and the associated signs and symptoms vary significantly based on the size, location, and number of cysts. Common features include developmental delay, reduced muscle tone (hypotonia), seizures, macrocephaly (unusually large head size), spastic hemiplegia, speech problems, delayed growth, and intellectual disability. Porencephaly is usually the result of damage from infection or stroke after birth. In these cases, the condition occurs sporadically in people with no family history of the condition. There is an inherited form of the condition called familial porencephaly, which is caused by changes (mutations) in the COL4A1 or COL4A2 genes and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person and may include physical therapy and medication for seizures.
Question: What causes Tourette syndrome ?

Answer: What causes Tourette syndrome? Although the cause of Tourette syndrome is unknown, current research points to abnormalities in certain brain regions (including the basal ganglia, frontal lobes, and cortex), the circuits that interconnect these regions, and the neurotransmitters (dopamine, serotonin, and norepinephrine) responsible for communication among nerve cells. Given the often complex presentation of Tourette syndrome, the cause of the disorder is likely to be equally complex. In many cases, there is a family history of tics, Tourette Syndrome, ADHD, OCD. In 2005, scientists discovered the first gene mutation that may cause some cases of Tourette syndrome. This gene, named SLITRK1, is normally involved with the growth of nerve cells and how they connect with other neurons.  The mutated gene is located in regions of the brain (basal ganglia, cortex, and frontal lobes) previously identified as being associated with Tourette syndrome.
Question: What is (are) Permanent neonatal diabetes mellitus ?

Answer: Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).