umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Dowling-Degos disease ?

Answer: Is there a medicine that can cure Dowling-Degos disease? There is no cure for Dowling-Degos disease. Many different treatments have been tried for this condition, but none has proven effective in eliminating the symptoms for all patients. Topical retinoic acids, topical steroids, hydroquinone, tretinoin, and systemic retinoids have been used without success. Limited reports indicate at least temporary therapeutic benefit with topical adapalene. Various laser systems (CO2 and erbiumYAG) have also shown some promise.    Additional articles that address this topic can be accessed below: Altomare G, Capella GL, Fracchiolla C, Frigerio E. Effectiveness of topical adapalene in Dowling-Degos disease. Dermatology. 1999;198(2):176-7.
Question: What is (are) Beta ketothiolase deficiency ?

Answer: Beta-ketothiolase deficiency is an inherited disorder in which the body cannot effectively process a protein building block (amino acid) called isoleucine. This condition also impairs the body's ability to process ketones, which are molecules produced during the breakdown of fats. Signs and symptoms typically appear between the ages of 6 months and 24 months. Affected children experience episodes of vomiting, dehydration, difficulty breathing, extreme tiredness (lethargy), and occasionally seizures. These episodes, which are called ketoacidotic attacks, sometimes lead to coma. Ketoacidotic attacks are frequently triggered by infections, periods without food (fasting), or increased intake of protein-rich foods. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the ACAT1 gene.
Question: What is (are) Lesch Nyhan syndrome ?

Answer: Lesch Nyhan syndrome is a condition characterized by neurological and behavioral abnormalities and the overproduction of uric acid in the body. It occurs almost exclusively in males. Signs and symptoms may include inflammatory arthritis (gout), kidney stones, bladder stones, and moderate cognitive disability. Nervous system and behavioral disturbances also occur, such as involuntary muscle movements and self injury (including biting and head banging). People with Lesch Nyhan syndrome usually cannot walk, require assistance sitting, and generally use a wheelchair. Lesch Nyhan syndrome is caused by changes (mutations) in the HPRT1 gene and is inherited in an X-linked recessive manner. Treatment is symptomatic and supportive. Affected people often do not survive past the first or second decade of life due to renal failure.
Question: What is (are) Familial atrial fibrillation ?

Answer: Familial atrial fibrillation is an inherited heart condition that disrupts the heart's rhythm. It is characterized by erratic electrical activity in the heart's upper chambers (the atria), causing an irregular response in the heart's lower chambers (the ventricles). This causes a fast and irregular heartbeat (arrhythmia). Signs and symptoms may include dizziness, chest pain, palpitations, shortness of breath, or fainting. Affected people also have an increased risk of stroke and sudden death. While complications may occur at any age, some affected people never have associated health problems. Familial atrial fibrillation may be caused by changes (mutations) in any of various genes, some of which have not been identified. It is most often inherited in an autosomal dominant manner, but autosomal recessive inheritance has been reported.
Question: What is (are) Chronic Fatigue Syndrome (CFS) ?

Answer: Chronic fatigue syndrome, or CFS, is a devastating and complex disorder. People with CFS have overwhelming fatigue and a host of other symptoms that are not improved by bed rest and that can get worse after physical activity or mental exertion. They often function at a substantially lower level of activity than they were capable of before they became ill.
  
Besides severe fatigue, other symptoms include muscle pain, impaired memory or mental concentration, insomnia, and post-exertion malaise lasting more than 24 hours. In some cases, CFS can persist for years.
  
Researchers have not yet identified what causes CFS, and there are no tests to diagnose CFS. Moreover, because many illnesses have fatigue as a symptom, doctors need to take care to rule out other conditions, which may be treatable.
Question: What are the genetic changes related to hereditary hemochromatosis ?

Answer: Mutations in the HAMP, HFE, HFE2, SLC40A1, and TFR2 genes cause hereditary hemochromatosis. Type 1 hemochromatosis results from mutations in the HFE gene, and type 2 hemochromatosis results from mutations in either the HFE2 or HAMP gene. Mutations in the TFR2 gene cause type 3 hemochromatosis, and mutations in the SLC40A1 gene cause type 4 hemochromatosis.  The proteins produced from these genes play important roles in regulating the absorption, transport, and storage of iron. Mutations in any of these genes impair the control of iron absorption during digestion and alter the distribution of iron to other parts of the body. As a result, iron accumulates in tissues and organs, which can disrupt their normal functions.
Question: Is X-linked lymphoproliferative disease inherited ?

Answer: This condition is generally inherited in an X-linked recessive pattern. The genes associated with this condition are 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 an associated gene in each cell is sufficient to cause the condition. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In females (who have two X chromosomes), a mutation usually has to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of an associated gene, males are affected by X-linked recessive disorders much more frequently than females. However, in rare cases a female carrying one altered copy of the SH2D1A or XIAP gene in each cell may develop signs and symptoms of this condition.
Question: What is (are) ichthyosis with confetti ?

Answer: Ichthyosis with confetti is a disorder of the skin. Individuals with this condition are born with red, scaly skin all over the body, which can be itchy in some people. In childhood or adolescence, hundreds to thousands of small patches of normal skin appear, usually on the torso. The numerous pale spots surrounded by red skin look like confetti, giving the condition its name. The patches of normal skin increase in number and size over time.  In addition to red, scaly skin, people with ichthyosis with confetti typically have abnormally thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Many affected individuals have excess hair (hirsutism) on some parts of the body, particularly on the arms and legs. Because of their skin abnormalities, people with ichthyosis with confetti are at increased risk of developing skin infections.
Question: What are the genetic changes related to trichohepatoenteric syndrome ?

Answer: Trichohepatoenteric syndrome can be caused by mutations in the TTC37 or SKIV2L gene. These genes provide instructions for making proteins whose functions have not been confirmed. Researchers speculate that they work together with other proteins within cells to help recognize and break down excess or abnormal messenger RNA (mRNA) molecules. mRNA is a chemical cousin of DNA that serves as the genetic blueprint for protein production. Studies suggest that getting rid of excess and abnormal mRNA is important for cell growth.  Mutations in the TTC37 or SKIV2L gene likely eliminate the function of their respective proteins, which is hypothesized to impair the breakdown of unneeded mRNA. However, it is unknown how these changes could lead to chronic diarrhea and the other features of trichohepatoenteric syndrome.
Question: What are the treatments for prion disease ?

Answer: These resources address the diagnosis or management of prion disease:  - Creutzfeldt-Jakob Disease Foundation: Suggestions for Patient Care  - Gene Review: Gene Review: Genetic Prion Diseases  - Genetic Testing Registry: Genetic prion diseases  - MedlinePlus Encyclopedia: Creutzfeldt-Jakob disease  - MedlinePlus Encyclopedia: Kuru  - University of California, San Fransisco Memory and Aging Center: Living With Creutzfeldt-Jakob Disease  - University of California, San Fransisco Memory and Aging Center: Treatments for Creutzfeldt-Jakob Disease   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 SOST-related sclerosing bone dysplasia ?

Answer: SOST-related sclerosing bone dysplasia is caused by mutations in or near the SOST gene. The SOST gene provides instructions for making the protein sclerostin. Sclerostin is produced in osteocytes, which are a type of bone cell. The main function of sclerostin is to stop (inhibit) bone formation.  Mutations in the SOST gene that cause sclerosteosis prevent the production of any functional sclerostin. A lack of sclerostin disrupts the inhibitory role it plays during bone formation, causing excessive bone growth.  SOST mutations that cause van Buchem disease result in a shortage of functional sclerostin. This shortage reduces the protein's ability to inhibit bone formation, causing the excessive bone growth seen in people with van Buchem disease.
Question: What are the treatments for mucopolysaccharidosis type III ?

Answer: These resources address the diagnosis or management of mucopolysaccharidosis type III:  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-A  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-B  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-C  - Genetic Testing Registry: Mucopolysaccharidosis, MPS-III-D  - MedlinePlus Encyclopedia: Sanfilippo Syndrome  - National MPS Society: A Guide to Understanding MPS III   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 is (are) Financial Help for Diabetes Care ?

Answer: Health insurance helps pay for medical care, including the cost of diabetes care. Health insurance options include the following:
                
- private health insurance, which includes group and individual health insurance  - government health insurance, such as Medicare, Medicaid, the Childrens Health Insurance Program (CHIP), TRICARE, and veterans health care programs
                
Starting in 2014, the Affordable Care Act (ACA) prevents insurers from denying coverage or charging higher premiums to people with preexisting conditions, such as diabetes. The ACA also requires most people to have health insurance or pay a fee. Some people may be exempt from this fee. Read more about the ACA at HealthCare.gov or call 18003182596, TTY 18558894325.
Question: What is (are) Pregnancy and Thyroid Disease ?

Answer: Thyroid disease is a disorder that affects the thyroid gland. Sometimes the body produces too much or too little thyroid hormone. Thyroid hormones regulate metabolismthe way the body uses energyand affect nearly every organ in the body. Too much thyroid hormone is called hyperthyroidism and can cause many of the bodys functions to speed up. Too little thyroid hormone is called hypothyroidism and can cause many of the bodys functions to slow down.
                
Thyroid hormone plays a critical role during pregnancy both in the development of a healthy baby and in maintaining the health of the mother.
                
Women with thyroid problems can have a healthy pregnancy and protect their fetuses health by learning about pregnancys effect on the thyroid, keeping current on their thyroid function testing, and taking the required medications.
Question: What to do for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?

Answer: To help reduce symptoms, a health care provider may recommend the following dietary changes:
                
- avoid foods and drinks that contain caffeine or artificial sugars  - drink plenty of liquids to prevent dehydration during episodes of diarrhea  - eat a milk-free diet if the person is also lactose intolerant  - eat a gluten-free diet
                
People should talk with their health care provider or dietitian about what type of diet is right for them.
                
Surgery
                
When the symptoms of microscopic colitis are severe and medications arent effective, a gastroenterologist may recommend surgery to remove the colon. Surgery is a rare treatment for microscopic colitis. The gastroenterologist will exclude other causes of symptoms before considering surgery.
Question: What causes Rheumatoid Arthritis ?

Answer: Actual Cause Is Unknown Scientists believe that rheumatoid arthritis may result from the interaction of many factors such as genetics, hormones, and the environment. Although rheumatoid arthritis sometimes runs in families, the actual cause of rheumatoid arthritis is still unknown. Research suggests that a person's genetic makeup is an important part of the picture, but not the whole story. Some evidence shows that infectious agents, such as viruses and bacteria, may trigger rheumatoid arthritis in people with an inherited tendency to develop the disease. However, a specific agent or agents are not yet known. Not Contagious It is important to note that rheumatoid arthritis is not contagious. A person cannot catch it from someone else.  Learn more about the causes of rheumatoid arthritis.
Question: What is (are) Problems with Smell ?

Answer: You can help your doctor make a diagnosis by writing down important information about your problem beforehand and giving the information to your doctor during your visit. Write down answers to the following questions. - When did I first become aware of the problem?  - Did I have a cold or the flu?  - Did I have a head injury?   - Was I exposed to air pollutants, pollen, pet dander, or dust to which I might be allergic?  - Is this a recurring problem?  - Does it come at any special time, such as during the hay fever season? When did I first become aware of the problem? Did I have a cold or the flu? Did I have a head injury? Was I exposed to air pollutants, pollen, pet dander, or dust to which I might be allergic? Is this a recurring problem? Does it come at any special time, such as during the hay fever season?
Question: What are the symptoms of Mycosis Fungoides and the Szary Syndrome ?

Answer: A sign of mycosis fungoides is a red rash on the skin. Mycosis fungoides may go through the following phases:         -  Premycotic phase: A scaly, red rash in areas of the body that usually are not exposed to the sun. This rash does not cause symptoms and may last for months or years. It is hard to diagnose the rash as mycosis fungoides during this phase.    -  Patch phase: Thin, reddened, eczema -like rash.    -  Plaque phase: Small raised bumps (papules) or hardened lesions on the skin, which may be reddened.     -  Tumor phase: Tumors form on the skin. These tumors may develop ulcers and the skin may get infected.        Check with your doctor if you have any of these signs.
Question: What is (are) Alzheimer's Caregivers ?

Answer: Caring for someone who has Alzheimer's disease  (AD) can be stressful and overwhelming. It's important to take care of yourself. Ask for and accept help.    Talk to the doctor. Find out what treatments might help control symptoms or address behavior problems. Find a support group. Others who have "been there" may be able to help and will understand.     If there are times of day that the person is less confused or more cooperative, take advantage of that in daily routines. Consider using adult day care or respite services. These offer a break with the peace of mind that the patient is being taken care of. Begin to plan for the future. This may include        -  Getting financial and legal documents in order    -  Looking into assisted living or nursing homes    -  Finding out what your health insurance and Medicare will cover       NIH: National Institute on Aging
Question: What is (are) Heart Disease in Women ?

Answer: In the United States, 1 in 4 women dies from heart disease. The most common cause of heart disease in both men and women is narrowing or blockage of the coronary arteries, the blood vessels that supply blood to the heart itself. This is called coronary artery disease, and it happens slowly over time. It's the major reason people have heart attacks.    Heart diseases that affect women more than men include       - Coronary microvascular disease (MVD) - a problem that affects the heart's tiny arteries    - Broken heart syndrome - extreme emotional stress leading to severe but often short-term heart muscle failure       The older a woman gets, the more likely she is to get heart disease. But women of all ages should be concerned about heart disease. All women can take steps to prevent it by practicing healthy lifestyle habits.     NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Suicide ?

Answer: Suicide is the tenth most common cause of death in the United States. People may consider suicide when they are hopeless and can't see any other solution to their problems. Often it's related to serious depression, alcohol or substance abuse, or a major stressful event.    People who have the highest risk of suicide are white men. But women and teens report more suicide attempts. If someone talks about suicide, you should take it seriously. Urge them to get help from their doctor or the emergency room, or call the National Suicide Prevention Lifeline at 1-800-273-TALK (8255). It is available 24/7.    Therapy and medicines can help most people who have suicidal thoughts. Treating mental illnesses and substance abuse can reduce the risk of suicide.    NIH: National Institute of Mental Health
Question: What is (are) Insomnia ?

Answer: Insomnia is a common sleep disorder. If you have it, you may have trouble falling asleep, staying asleep, or both. As a result, you may get too little sleep or have poor-quality sleep. You may not feel refreshed when you wake up.    Symptoms of insomnia include:       - Lying awake for a long time before you fall asleep    -  Sleeping for only short periods    - Being awake for much of the night    - Feeling as if you haven't slept at all    - Waking up too early       Your doctor will diagnose insomnia based on your medical and sleep histories and a physical exam. He or she also may recommend a sleep study. A sleep study measures how well you sleep and how your body responds to sleep problems. Treatments include lifestyle changes, counseling, and medicines.    NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Cerebellar degeneration ?

Answer: Cerebellar degeneration refers to the deterioration of neurons in the cerebellum (the area of the brain that controls muscle coordination and balance). Conditions that cause cerebellar degeneration may also affect other areas of the central nervous system, such as the spinal cord, the cerebral cortex, and the brain stem. Signs and symptoms of cerebellar degeneration may include a wide-based, uncoordinated walk; a back and forth tremor in the trunk of the body; uncoordinated movements of the arms and legs; slow and slurred speech; and nystagmus. Cerebellar degeneration can be caused by a variety of factors including inherited gene changes (mutations), chronic alcohol abuse, and paraneoplastic disorders. Treatment for cerebellar degeneration varies depending on the underlying cause.
Question: What are the treatments for Fibrous dysplasia ?

Answer: How might fibrous dysplasia be treated? Unfortunately, there is no cure for fibrous dysplasia. Treatment depends on the symptoms that develop. Fractures often require surgery, but can sometimes be treated with casting or splints.] Surgery is most appropriate in cases where fractures are likely to occur, or where bones have become misshapen. Surgery may also be used to relieve pain. Medications known as bisphosphonates are also used to relieve bone pain. Other healthy strategies such as physical activity and adequate intake of calcium, phosphorus, and vitamin D are also encouraged.[  Radiation therapy is not recommended for patients with fibrous dysplasia because it is associated with an increased risk of cancerous transformation. Careful, long-term follow-up to monitor fibrous dysplasia is advised.
Question: How to diagnose Lafora disease ?

Answer: How is Lafora disease diagnosed? A diagnosis of Lafora disease is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that may cause similar features. For example, a skin biopsy may be performed to detect "Lafora bodies" (clumps of abnormal glycogen that cannot be broken down and used for fuel) which are found in most people with the condition. Genetic testing for changes (mutations) in either the EPM2A gene or the NHLRC1 gene may be used to confirm the diagnosis in some cases. An EEG and an MRI of the brain are generally recommended in all people with recurrent seizures and are useful in investigating other conditions in the differential diagnosis. GeneReview's Web site offers more specific information regarding the diagnosis of Lafora disease. Please click on the link to access this resource.
Question: Is Osteogenesis imperfecta type VI inherited ?

Answer: How is osteogenesis imperfecta type 6 inherited? Osteogenesis imperfecta type 6 has an autosomal recessive pattern of inheritance. Autosomal recessive inheritance means that two copies of the gene in each cell are altered. The parents of a child with an autosomal recessive disorder typically are not affected, but each carry one copy of the altered gene (they are referred to as carriers). When two carriers for an autosomal recessive condition have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier, and a 25% chance to not have the condition and not be a carrier. The children of an individual with an autosomal recessive type of OI are always carriers for a disease-causing mutation.
Question: What is (are) Familial hyperinsulinism ?

Answer: Familial hyperinsulinism is an inherited condition that causes individuals to have abnormally high levels of insulin, which leads to frequent episodes of low blood sugar (hypoglycemia). In infants and young children, these episodes are characterized by a lack of energy (lethargy), irritability, and/or difficulty feeding. Repeated episodes of low blood sugar increase the risk for serious complications such as seizures, intellectual disability, breathing difficulties, and/or coma. Unlike typical episodes of hypoglycemia, which occur after periods without food (fasting), episodes of hypoglycemia in people with familial hyperinsulinism can also occur after eating or exercising. Mutations in at least seven genes have been found to cause this condition. It is often inherited in an autosomal recessive pattern or less commonly, an autosomal dominant pattern.
Question: What are the treatments for Prune belly syndrome ?

Answer: How might prune belly syndrome be treated? The initial evaluation of the newborn with prune belly syndrome requires a team consisting of a neonatologist, nephrologist, urologist and in some cases other specialists (e.g., cardiologist) as well. Treatment options depend on the child's age, health, medical history, extend of disease, tolerance for certain treatments or procedures, the expected course of the disease, and the parent's and/or guardian's opinions and preferences.[832] In general, surgery may be done to repair abdominal muscle, genital, and bladder problems.  Antibiotics may be given to infants to treat or prevent urinary tract infections. Timing of therapy may vary from patient to patient. To learn more about your childs specific treatment options we recommend that you speak to her healthcare provider.