umarjan11/Medical-qna huggingface dataset:
Question: How many people are affected by lactose intolerance ?

Answer: Lactose intolerance in infancy resulting from congenital lactase deficiency is a rare disorder. Its incidence is unknown. This condition is most common in Finland, where it affects an estimated 1 in 60,000 newborns.  Approximately 65 percent of the human population has a reduced ability to digest lactose after infancy. Lactose intolerance in adulthood is most prevalent in people of East Asian descent, affecting more than 90 percent of adults in some of these communities. Lactose intolerance is also very common in people of West African, Arab, Jewish, Greek, and Italian descent.  The prevalence of lactose intolerance is lowest in populations with a long history of dependence on unfermented milk products as an important food source. For example, only about 5 percent of people of Northern European descent are lactose intolerant.
Question: What are the genetic changes related to IRAK-4 deficiency ?

Answer: IRAK-4 deficiency is caused by mutations in the IRAK4 gene, which provides instructions for making a protein that plays an important role in stimulating the immune system to respond to infection. The IRAK-4 protein is part of a signaling pathway that is involved in early recognition of foreign invaders (pathogens) and the initiation of inflammation to fight infection. This signaling pathway is part of the innate immune response, which is the body's early, nonspecific response to pathogens.  Mutations in the IRAK4 gene lead to the production of a nonfunctional protein or no protein at all. The loss of functional IRAK-4 protein prevents the immune system from triggering inflammation in response to pathogens that would normally help fight the infections. Because the early immune response is insufficient, bacterial infections occur often and become severe and invasive.
Question: Is Aarskog-Scott syndrome inherited ?

Answer: Aarskog-Scott syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition 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 would have to occur in both copies of the gene to cause Aarskog-Scott syndrome. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. Females who carry one altered copy of the FGD1 gene may show mild signs of the condition, such as hypertelorism, short stature, or a widow's peak hairline. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: What are the genetic changes related to X-linked sideroblastic anemia and ataxia ?

Answer: Mutations in the ABCB7 gene cause X-linked sideroblastic anemia and ataxia. The ABCB7 gene provides instructions for making a protein that is critical for heme production. Heme is a component of the hemoglobin protein, which is vital for supplying oxygen to the entire body. The ABCB7 protein also plays a role in the formation of certain proteins containing clusters of iron and sulfur atoms. Overall, researchers believe that the ABCB7 protein helps maintain an appropriate balance of iron (iron homeostasis) in developing red blood cells.  ABCB7 mutations slightly alter the structure of the ABCB7 protein, disrupting its usual role in heme production and iron homeostasis. Anemia results when heme cannot be produced normally, and therefore not enough hemoglobin is made. It is unclear how changes in the ABCB7 gene lead to ataxia and other problems with movement.
Question: What are the treatments for spinocerebellar ataxia type 36 ?

Answer: These resources address the diagnosis or management of spinocerebellar ataxia type 36:  - Ataxia Center at the University of Minnesota: Dominant Spinocerebellar Ataxias  - Baylor College of Medicine: Parkinson's Disease Center and Movement Disorders Clinic: Ataxia  - Gene Review: Gene Review: Spinocerebellar Ataxia Type 36  - Genetic Testing Registry: Spinocerebellar ataxia 36  - Johns Hopkins Medicine: Ataxia  - The Ataxia Center at the University of Chicago: Autosomal Dominant Spinocerebellar Ataxia   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 isolated Pierre Robin sequence ?

Answer: Changes in the DNA near the SOX9 gene are the most common genetic cause of isolated Pierre Robin sequence. It is likely that changes in other genes, some of which have not been identified, also cause isolated Pierre Robin sequence.  The SOX9 gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX9 protein regulates the activity of other genes, especially those that are important for development of the skeleton, including the mandible.  The genetic changes associated with isolated Pierre Robin sequence occur near the SOX9 gene. These abnormalities are thought to disrupt regions of DNA called enhancers that normally regulate the activity of the SOX9 gene, reducing SOX9 gene activity. As a result, the SOX9 protein cannot properly control the genes essential for normal development of the lower jaw, causing micrognathia, and consequently, glossoptosis and cleft palate.
Question: What to do for Biliary Atresia ?

Answer: Infants with biliary atresia often have nutritional deficiencies and require special diets as they grow up. They may need a higher calorie diet, because biliary atresia leads to a faster metabolism. The disease also prevents them from digesting fats and can lead to protein and vitamin deficiencies. Vitamin supplements may be recommended, along with adding medium-chain triglyceride oil to foods, liquids, and infant formula. The oil adds calories and is easier to digest without bile than other types of fats. If an infant or child is too sick to eat, a feeding tube may be recommended to provide high-calorie liquid meals.
                
After a liver transplant, most infants and children can go back to their usual diet. Vitamin supplements may still be needed because the medications used to keep the body from rejecting the new liver can affect calcium and magnesium levels.
Question: What are the symptoms of Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes ?

Answer: The signs and symptoms of type 2 diabetes can be so mild that you might not even notice them. Nearly 7 million people in the United States have type 2 diabetes and dont know they have the disease. Many have no signs or symptoms. Some people have symptoms but do not suspect diabetes.
                
Symptoms include
                
- increased thirst  - increased hunger  - fatigue  - increased urination, especially at night  - unexplained weight loss  - blurred vision  - numbness or tingling in the feet or hands  - sores that do not heal
                
Many people do not find out they have the disease until they have diabetes problems, such as blurred vision or heart trouble. If you find out early that you have diabetes, you can get treatment to prevent damage to your body.
Question: What is (are) Alcohol Use and Older Adults ?

Answer: If a person drinks too much or too often he or she may develop an alcohol use disorder (AUD). An AUD can range in severity from mild to severe. On one end of this spectrum, drinking might cause sickness, depression, or sleeping problems. More severe symptoms include drinking more than intended or craving alcohol once youve stopped drinking. AUD can be a lifelong disease in which people have a strong need to drink, cannot control their drinking once they start, and over time need to drink greater and greater amounts of alcohol to get high. Older adults who develop a severe AUD become physically dependent on alcohol. When they stop drinking, they can get nauseated, sweaty, shaky, and restless. These withdrawal symptoms can cause them to start drinking again to feel better, even though doing so can lead to physical or psychological problems.  Learn more about alcohol use disorder.
Question: What is (are) Surviving Cancer ?

Answer: Bladder and bowel problems are among the most upsetting issues people face after cancer treatment. People often feel ashamed or fearful to go out in public, because they worry about having an "accident." This loss of control can happen after treatment for bladder, prostate, colon, rectal, ovarian, or other gynecologic or abdominal cancers. Some surgeries to treat cancer may leave a patient with little or no bladder or bowel control. The opposite problem can happen with some medicines that cause constipation. For some people the problems improve over time, but others may experience long-term issues. It is very important to tell your doctor about any changes in your bladder or bowel habits. Several things may help, such as medications, changes in diet or fluid intake, and exercises. Joining a support group also may be helpful, especially for survivors who have an ostomy (an opening in the body to pass waste material).
Question: Who is at risk for Paranasal Sinus and Nasal Cavity Cancer? ?

Answer: Being exposed to certain chemicals or dust in the workplace can increase the risk of paranasal sinus and nasal cavity cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for paranasal sinus and nasal cavity cancer include the following:          - Being exposed to certain workplace chemicals or dust, such as those found in the following jobs:               - Furniture-making.      - Sawmill work.      - Woodworking (carpentry).      - Shoemaking.      - Metal-plating.      - Flour mill or bakery work.             - Being infected with human papillomavirus (HPV).    - Being male and older than 40 years.    - Smoking.
Question: What is (are) Hemophilia ?

Answer: Hemophilia is a rare disorder in which the blood does not clot normally. It is usually inherited. Hemophilia usually occurs in males.    If you have hemophilia, you have little or no clotting factor. Clotting factor is a protein needed for normal blood clotting. Without it, you may bleed for a long time after an injury or accident. You also may bleed into your knees, ankles, and elbows. Bleeding in the joints causes pain and, if not treated, can lead to arthritis. Bleeding in the brain, a very serious complication of hemophilia, requires emergency treatment.    The main symptoms of hemophilia are excessive bleeding and easy bruising. Blood tests can tell if you have it. The main treatment is injecting the missing clotting factor into the bloodstream. You may need it on a regular basis, or just when bleeding occurs.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Transient Ischemic Attack ?

Answer: A transient ischemic attack (TIA) is a stroke that comes and goes quickly. It happens when the blood supply to part of the brain stops briefly. Symptoms of a TIA are like other stroke symptoms, but do not last as long. They happen suddenly, and include        - Numbness or weakness, especially on one side of the body    - Confusion or trouble speaking or understanding speech    - Trouble seeing in one or both eyes    - Loss of balance or coordination       Most symptoms of a TIA disappear within an hour, although they may last for up to 24 hours. Because you cannot tell if these symptoms are from a TIA or a stroke, you should get to the hospital quickly.     TIAs are often a warning sign for future strokes. Taking medicine, such as blood thinners, may reduce your risk of a stroke. Your doctor might also recommend surgery.     NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Animal Bites ?

Answer: Wild animals usually avoid people. They might attack, however, if they feel threatened, are sick, or are protecting their young or territory. Attacks by pets are more common. Animal bites rarely are life-threatening, but if they become infected, you can develop serious medical problems.     To prevent animal bites and complications from bites       -  Never pet, handle, or feed unknown animals     -  Leave snakes alone    -  Watch your children closely around animals    -  Vaccinate your cats, ferrets, and dogs against rabies    -  Spay or neuter your dog to make it less aggressive    -  Get a tetanus booster if you have not had one recently    -  Wear boots and long pants when you are in areas with venomous snakes       If an animal bites you, clean the wound with soap and water as soon as possible. Get medical attention if necessary.    Centers for Disease Control and Prevention
Question: What is (are) Dystonia ?

Answer: Dystonia is a movement disorder that causes involuntary contractions of your muscles. These contractions result in twisting and repetitive movements. Sometimes they are painful.    Dystonia can affect just one muscle, a group of muscles or all of your muscles. Symptoms can include tremors, voice problems or a dragging foot. Symptoms often start in childhood. They can also start in the late teens or early adulthood. Some cases worsen over time. Others are mild.    Some people inherit dystonia. Others have it because of another disease. Researchers think that dystonia may be due to a problem in the part of the brain that handles messages about muscle contractions. There is no cure. Doctors use medicines, Botox injections, surgery, physical therapy, and other treatments to reduce or eliminate muscle spasms and pain.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Breast Diseases ?

Answer: Most women experience breast changes at some time. Your age, hormone levels, and medicines you take may cause lumps, bumps, and discharges (fluids that are not breast milk).    If you have a breast lump, pain, discharge or skin irritation, see your health care provider. Minor and serious breast problems have similar symptoms. Although many women fear cancer, most breast problems are not cancer.    Some common breast changes are       - Fibrocystic breast changes - lumpiness, thickening and swelling, often just before a woman's period    - Cysts - fluid-filled lumps    - Fibroadenomas - solid, round, rubbery lumps that move easily when pushed, occurring most in younger women    - Intraductal papillomas - growths similar to warts near the nipple    - Blocked milk ducts    - Milk production when a woman is not breastfeeding       NIH: National Cancer Institute
Question: What is (are) Salivary Gland Cancer ?

Answer: Your salivary glands make saliva - sometimes called spit - and empty it into your mouth through openings called ducts. Saliva makes your food moist, which helps you chew and swallow. It helps you digest your food. It also cleans your mouth and contains antibodies that can kill germs.    Salivary gland cancer is a type of head and neck cancer. It is rare. It may not cause any symptoms, or you could notice       - A lump in your ear, cheek, jaw, lip, or inside the mouth    - Fluid draining from your ear    - Trouble swallowing or opening the mouth widely    - Numbness, weakness, or pain in your face       Doctors diagnose salivary gland cancer using a physical exam, imaging tests, and a biopsy. Treatment can include surgery, radiation therapy, and/or chemotherapy.    NIH: National Cancer Institute
Question: Do you have information about Skin Aging

Answer: Summary : Your skin changes as you age. You might notice wrinkles, age spots and dryness. Your skin also becomes thinner and loses fat, making it less plump and smooth. It might take longer to heal, too.     Sunlight is a major cause of skin aging. You can protect yourself by staying out of the sun when it is strongest, using sunscreen with an SPF of 15 or higher, wearing protective clothing, and avoiding sunlamps and tanning beds. Cigarette smoking also contributes to wrinkles. The wrinkling increases with the amount of cigarettes and number of years a person has smoked.    Many products claim to revitalize aging skin or reduce wrinkles, but the Food and Drug Administration has approved only a few for sun-damaged or aging skin. Various treatments soothe dry skin and reduce the appearance of age spots.    NIH: National Institute on Aging
Question: What causes Mucopolysaccharidosis type I ?

Answer: What causes mucopolysaccharidosis I (MPS I)? Mutations in the IDUA gene cause MPS I. The IDUA gene provides instructions for producing an enzyme that is involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). Mutations in the IDUA gene reduce or completely eliminate the function of the IDUA enzyme. The lack of IDUA enzyme activity leads to the accumulation of GAGs within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions that cause molecules to build up inside the lysosomes, including MPS I, are called lysosomal storage disorders. The accumulation of GAGs increases the size of the lysosomes, which is why many tissues and organs are enlarged in this disorder.
Question: What is (are) Duchenne muscular dystrophy ?

Answer: Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy that occurs primarily in boys. It is caused by a mutation in a gene, called the DMD gene, which encodes the muscle protein dystrophin. Boys with Duchenne muscular dystrophy do not make the dystrophin protein in their muscles. Duchenne mucular dystrophy is inherited in an X-linked recessive fashion; however, it may also occur in people from families without a known family history of the condition. Individuals who have DMD have progressive loss of muscle function and weakness, which begins in the lower limbs. In addition to the skeletal muscles used for movement, DMD may also affect the muscles of the heart.  There is no known cure for Duchenne muscular dystrophy. Treatment is aimed at control of symptoms to maximize the quality of life.
Question: What is (are) Lymphatic filariasis ?

Answer: Lymphatic filariasis is a parasitic disease caused by microscopic, thread-like worms that only live in the human lymph system, which maintains the body's fluid balance and fights infections. It is spread from person to person by mosquitoes. Most infected people are asymptomatic and never develop clinical symptoms. A small percentage of people develop lymphedema, which may affect the legs, arms, breasts, and genitalia; bacterial infections that cause hardening and thickening of the skin, called elephantiasis; hydrocele (swelling of the scrotum) in men; and pulmonary tropical eosinophilia syndrome. Treatment may include a yearly dose of medicine, called diethylcarbamazine (DEC); while this drug does not kill all of the adult worms, it prevents infected people from giving the disease to someone else.
Question: What is (are) Cogan-Reese syndrome ?

Answer: Cogan-Reese syndrome is one type of Iridocorneal Endothelial (ICE) syndrome. The ICE syndromes predominantly affect Caucasian, young to middle-aged women, and involve one eye. While there have been some cases of Cogan-Reese syndrome reported in children, the disease is typically observed in females in the mid-adult years. [1] In one study of 71 patients with ICE syndrome, the mean age at diagnosis was 51-years. Known glaucoma was present in 11 (15%) of cases. [2] While it is not yet known how to keep Cogan-Reese syndrome from progressing, the glaucoma associated with the disease can be treated with medication. Additionally, corneal transplant can treat any corneal swelling. The National Eye Institute provides information on screening for glaucoma HERE.
Question: What is (are) Juvenile Huntington disease ?

Answer: Juvenile Huntington disease (HD) is a less common, early-onset form of Huntington disease that begins in childhood or adolescence. It is also a progressive disorder that causes the breakdown of brain cells in certain areas of the brain. This results in uncontrolled movements, loss of intellectual abilities, and emotional disturbances. Juvenile HD is defined by the onset of symptoms before age 20 years and accounts for 5-10% of HD cases. It is inherited in an autosomal dominant pattern and is caused by a mutation called a trinucleotide repeat in the HTT gene. Most often, children with juvenile HD inherit the mutation repeat from their fathers, although on occasion they inherit it from their mothers. Juvenile Huntington disease has a rapid disease progression once symptoms present. There currently is no cure. Treatment is supportive and focused on increasing quality of life.
Question: What causes Juvenile Huntington disease ?

Answer: What causes Juvenile Huntington disease (HD)? Mutations in the HTT gene cause Huntington disease. The HTT gene provides instructions for making a protein called huntingtin. Although the function of this protein is unknown, it appears to play an important role in nerve cells (neurons) in the brain. When the huntingtin protein is abnormally made, it is thought to lead to the death of neurons in certain areas of the brain, which causes the signs and symptoms of Juvenile HD. The HTT mutation that causes Huntington disease involves a DNA segment known as a CAG trinucleotide repeat. This segment is made up of a series of three DNA building blocks (cytosine, adenine, and guanine) that appear multiple times in a row. Normally, the CAG segment is repeated 10 to 35 times within the gene. In people with juvenile HD, the CAG segment is repeated more than 60 times.
Question: What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ?

Answer: Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive.
Question: What is (are) Dominant optic atrophy ?

Answer: Dominant optic atrophy (DOA) is an inherited optic nerve disorder characterized by degeneration of the optic nerves. It typically starts during the first decade of life. Affected people usually develop moderate visual loss and color vision defects. The severity varies and visual acuity can range from normal to legal blindness. About 20% of people with DOA have non-ocular features, such as sensorineural hearing loss; myopathy; peripheral neuropathy; multiple sclerosis-like illness; and spastic paraplegia (impaired function of the legs). These cases may be referred to as 'DOA plus.' DOA is inherited in an autosomal dominant manner and may be caused by a mutation in any of several genes, some of which have not been identified. There is currently no way to prevent or cure DOA, but affected people may benefit from low vision aids.