umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Parasites - African Trypanosomiasis (also known as Sleeping Sickness) ?

Answer: All persons diagnosed with African Trypanosomiasis should receive treatment. The specific drug and treatment course will depend on the type of infection (T. b. gambiense or T. b. rhodesiense) and the disease stage (i.e. whether the central nervous system has been invaded by the parasite). Pentamidine, which is the recommended drug for first stage T. b. gambiense infection, is widely available in the U.S. The other drugs (suramin, melarsoprol, eflornithine, and nifurtimox) used to treat African trypanosomiasis are available in the U.S. only from the CDC. Physicians can consult with CDC staff for advice on diagnosis and management and to obtain otherwise unavailable treatment drug.
    
There is no test of cure for African trypanosomiasis. After treatment patients need to have serial examinations of their cerebrospinal fluid for 2 years, so that relapse can be detected if it occurs.
    
More on: Resources for Health Professionals: Treatment
Question: what research (or clinical trials) is being done for Vasculitis Syndromes of the Central and Peripheral Nervous Systems ?

Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. Several NINDS-funded investigators are studying blood vessel damage and cerebral blood flow as it relates to stroke. The NINDS also funds research on vascular cognitive impairment, which is an important contributor to aging-related cognitive decline and is the result of impaired performance of the brain's small blood vessels. Additionally, the NINDS and other institutes of the National Institutes of Health (NIH) conduct research relating to vasculitis syndromes in laboratories at the NIH and also support vasculitis research through grants to major medical institutions across the country. The NINDS supports The Vasculitis Clinical Research Consortium (VCRC), a network of academic medical centers, patient support organizations, and clinical research resources dedicated to conducting clinical research and improving the care of individuals with various vasculitis disorders.
Question: Is X-linked congenital stationary night blindness inherited ?

Answer: This condition is inherited in an X-linked recessive pattern. The NYX and CACNA1F genes 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 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 the disorder. 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. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one altered copy of the gene in each cell is called a carrier. Carriers of an NYX or CACNA1F mutation can pass on the mutated gene, but most do not develop any of the vision problems associated with X-linked congenital stationary night blindness. However, carriers may have retinal changes that can be detected with an electroretinogram.
Question: What are the genetic changes related to familial osteochondritis dissecans ?

Answer: Mutation of the ACAN gene can cause familial osteochondritis dissecans. The ACAN gene provides instructions for making the aggrecan protein, which is a component of cartilage. Aggrecan attaches to the other components of cartilage, organizing the network of molecules that gives cartilage its strength. In addition, aggrecan attracts water molecules and gives cartilage its gel-like structure. This feature enables the cartilage to resist compression, protecting bones and joints.  The ACAN gene mutation associated with familial osteochondritis dissecans results in an abnormal protein that is unable to attach to the other components of cartilage. As a result, the cartilage is disorganized and weak. It is unclear how the abnormal cartilage leads to the lesions and osteoarthritis characteristic of familial osteochondritis dissecans. Researchers suggest that a disorganized cartilage network in growing bones impairs their normal growth, leading to short stature.  Sporadic osteochondritis dissecans is not caused by genetic changes and is not inherited.
Question: What are the genetic changes related to familial Mediterranean fever ?

Answer: Mutations in the MEFV gene cause familial Mediterranean fever. The MEFV gene provides instructions for making a protein called pyrin (also known as marenostrin), which is found in white blood cells. This protein is involved in the immune system, helping to regulate the process of inflammation. Inflammation occurs when the immune system sends signaling molecules and white blood cells to a site of injury or disease to fight microbial invaders and facilitate tissue repair. When this process is complete, the body stops the inflammatory response to prevent damage to its own cells and tissues.  Mutations in the MEFV gene reduce the activity of the pyrin protein, which disrupts control of the inflammation process. An inappropriate or prolonged inflammatory response can result, leading to fever and pain in the abdomen, chest, or joints.  Normal variations in the SAA1 gene may modify the course of familial Mediterranean fever. Some evidence suggests that a particular version of the SAA1 gene (called the alpha variant) increases the risk of amyloidosis among people with familial Mediterranean fever.
Question: What to do for What I need to know about Lactose Intolerance ?

Answer: - Lactose is a sugar found in milk and milk products.  - Lactose intolerance means you have symptoms such as bloating, diarrhea, and gas after you have milk or milk products.  - Your doctor will try to find out if you have lactose intolerance with a medical, family, and diet history; a physical exam; and medical tests.  - Most people with lactose intolerance can eat or drink some lactose without symptoms.  - If you have lactose intolerance, you can make changes to what you eat and drink. Some people may only need to have less lactose. Others may need to avoid lactose altogether.  - Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D. For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes.  - Lactose is in many food products and in some medicines.
Question: What is (are) Premenstrual Syndrome ?

Answer: Premenstrual syndrome, or PMS, is a group of symptoms that start one to two weeks before your period. Most women have at least some symptoms of PMS, and the symptoms go away after their periods start. For some women, the symptoms are severe enough to interfere with their lives. They have a type of PMS called premenstrual dysphoric disorder, or PMDD.    Common PMS symptoms include       - Breast swelling and tenderness     - Acne    - Bloating and weight gain    - Pain - headache or joint pain    - Food cravings     - Irritability, mood swings, crying spells, depression        No one knows what causes PMS, but hormonal changes trigger the symptoms. No single PMS treatment works for everyone. Over-the-counter pain relievers such as ibuprofen, aspirin or naproxen may help ease cramps, headaches, backaches and breast tenderness. Exercising, getting enough sleep, and avoiding salt, caffeine, and alcohol can also help.    Dept. of Health and Human Services Office on Women's Health
Question: Do you have information about Medicines and Children

Answer: Summary : When it comes to taking medicines, kids aren't just small adults. For prescription medicines, there is a "Pediatric" section of the label. It says whether the medication has been studied for its effects on children. It also tells you what ages have been studied. Aside from drugs for fever or pain, most over-the-counter products haven't actually been studied in children for effectiveness, safety, or dosing.    When you give medicine to your child, be sure you're giving the right medicine and the right amount. Read and follow the label directions. Use the correct dosing device. If the label says two teaspoons and you're using a dosing cup with ounces only, don't guess. Get the proper measuring device. Don't substitute another item, such as a kitchen spoon. Talk to your doctor, pharmacist, or other health care provider before giving two medicines at the same time. That way, you can avoid a possible overdose or an unwanted interaction. Follow age and weight limit recommendations. If the label says don't give to children under a certain age or weight, don't do it.    Food and Drug Administration
Question: Do you have information about Mercury

Answer: Summary : Mercury is an element that is found in air, water and soil. It has several forms. Metallic mercury is a shiny, silver-white, odorless liquid. If heated, it is a colorless, odorless gas. It also combines with other elements to form powders or crystals. Mercury is in many products. Metallic mercury is used in glass thermometers, silver dental fillings, and button batteries. Mercury salts may be used in skin creams and ointments. It's also used in many industries.     Mercury in the air settles into water. It can pass through the food chain and build up in fish, shellfish, and animals that eat fish. The nervous system is sensitive to all forms of mercury. Exposure to high levels can damage the brain and kidneys. Pregnant women can pass the mercury in their bodies to their babies.    It is important to protect your family from mercury exposure:       - Carefully handle and dispose of products that contain mercury    - Limit your consumption of fish with higher levels of mercury       Agency for Toxic Substances and Disease Registry
Question: What is (are) Peripheral Nerve Disorders ?

Answer: Your peripheral nerves are the ones outside your brain and spinal cord. Like static on a telephone line, peripheral nerve disorders distort or interrupt the messages between the brain and the rest of the body.     There are more than 100 kinds of peripheral nerve disorders. They can affect one nerve or many nerves. Some are the result of other diseases, like diabetic nerve problems. Others, like Guillain-Barre syndrome, happen after a virus infection. Still others are from nerve compression, like carpal tunnel syndrome or thoracic outlet syndrome. In some cases, like complex regional pain syndrome and brachial plexus injuries, the problem begins after an injury. Some people are born with peripheral nerve disorders.    Symptoms often start gradually, and then get worse. They include        -  Numbness    -  Pain    -  Burning or tingling    -  Muscle weakness    -  Sensitivity to touch       Treatment aims to treat any underlying problem, reduce pain and control symptoms.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Birthmarks ?

Answer: Birthmarks are abnormalities of the skin that are present when a baby is born. There are two types of birthmarks. Vascular birthmarks are made up of blood vessels that haven't formed correctly. They are usually red. Two types of vascular birthmarks are hemangiomas and port-wine stains. Pigmented birthmarks are made of a cluster of pigment cells which cause color in skin. They can be many different colors, from tan to brown, gray to black, or even blue. Moles can be birthmarks.    No one knows what causes many types of birthmarks, but some run in families. Your baby's doctor will look at the birthmark to see if it needs any treatment or if it should be watched. Pigmented birthmarks aren't usually treated, except for moles. Treatment for vascular birthmarks includes laser surgery.     Most birthmarks are not serious, and some go away on their own. Some stay the same or get worse as you get older. Usually birthmarks are only a concern for your appearance. But certain types can increase your risk of skin cancer. If your birthmark bleeds, hurts, itches, or becomes infected, call your health care provider.
Question: What is (are) Kidney Stones ?

Answer: A kidney stone is a solid piece of material that forms in the kidney from substances in the urine. It may be as small as a grain of sand or as large as a pearl. Most kidney stones pass out of the body without help from a doctor. But sometimes a stone will not go away. It may get stuck in the urinary tract, block the flow of urine and cause great pain.     The following may be signs of kidney stones that need a doctor's help:       -  Extreme pain in your back or side that will not go away    -  Blood in your urine    -  Fever and chills    -  Vomiting    -  Urine that smells bad or looks cloudy    -  A burning feeling when you urinate       Your doctor will diagnose a kidney stone with urine, blood, and imaging tests.    If you have a stone that won't pass on its own, you may need treatment. It can be done with shock waves; with a scope inserted through the tube that carries urine out of the body, called the urethra; or with surgery.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Bird Flu ?

Answer: Birds, just like people, get the flu. Bird flu viruses infect birds, including chickens, other poultry, and wild birds such as ducks. Most bird flu viruses can only infect other birds. However, bird flu can pose health risks to people. The first case of a bird flu virus infecting a person directly, H5N1, was in Hong Kong in 1997. Since then, the bird flu virus has spread to birds in countries in Asia, Africa, the Middle East, and Europe.    Human infection is still very rare, but the virus that causes the infection in birds might change, or mutate, to more easily infect humans. This could lead to a pandemic, a worldwide outbreak of the illness.     During an outbreak of bird flu, people who have contact with infected birds can become sick. It may also be possible to catch bird flu by eating poultry or eggs that are not well cooked or through contact with a person who has it. Bird flu can make people very sick or even cause death. Antiviral medicines may make the illness less severe, and may help prevent the flu in people who were exposed to it. There is currently no vaccine.
Question: How to diagnose Duchenne muscular dystrophy ?

Answer: How is Duchenne muscular dystrophy (DMD) diagnosed? Duchenne muscular dystrophy (DMD) is suspected and diagnosed when the following clinical findings are found: a positive family history of DMD, more men affected that women in a family, progressive muscle weakness which is usually greater in the proximal muscles (closest to the trunk of the body) than distal muscles (those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs), symptoms before the age of 5 years old and wheel chair dependency before age 13. Testing for DMD includes: a blood test which measures the levels of serum creatine phosphokinase (CPK); electromyography which is used to distinguish conditions that only impact the muscles (myotonic) from those that involve that brain and muscles (neurogenic); a skeletal muscle biopsy which is used to detect the presence of specific proteins with a visible label (immunohistochemistry) and molecular genetic testing for deletions, duplications, rearrangements, etc. of genetic material.
Question: How to diagnose Waardenburg syndrome type 2 ?

Answer: How is a subtype of Waardenburg syndrome type 2 diagnosed? Subtypes of Waardenburg syndrome type 2 are determined by the suspected genetic cause of the condition in a family.  In some subtypes, the genetic cause is a known gene.  In other subtypes, the general location (locus) of the genetic cause has been identified, but the specific gene is not yet known.  There are five different subtypes:  Type 2A is caused by a change (mutation) in the MITF gene on chromosome 3 Type 2B is associated with a locus on chromosome 1 Type 2C is associated with a locus on chromosome 8 Type 2D is caused by mutations is the SNAI2 gene on chromosome 8 Type 2E is caused by mutations in the SOX10 gene on chromosome 22 Because subtypes are defined by the underlying genetic cause, they are not diagnosed by physical features identified during a physical exam.  Physical features may be used to distinguish between types of Waardenburg syndrome, such as Type 1 or Type 2, but do not help identify a specific subtype.
Question: What causes EEC syndrome ?

Answer: What causes EEC syndrome? Approximately 90% of individuals with EEC syndrome have a causative mutation identified in the TP63 gene. The TP63 gene codes for the p63 protein, which plays a critical role in early development of the ectoderm-the layers of tissue that develop into the skin, hair, teeth, and nails. The p63 protein is additionally thought to play a role in the development of the limbs, facial features, urinary system, and other organs. Individuals that have EEC syndrome due to a mutation in the TP63 gene are classified as having EEC syndrome type 3 (EEC3). In approximately 10% of individuals, EEC syndrome is caused by a mutation on a region of the q (long) arm of chromosome 7. Individuals that have EEC syndrome due to a mutation on the q arm of chromosome 7 are classified as having EEC syndrome type 1 (EEC1). Rarely, EEC syndrome can be found in individuals that do not have mutations in either the TP63 gene or the q arm of chromosome 7.
Question: What is (are) Long QT syndrome 8 ?

Answer: Timothy syndrome is a type of long QT syndrome. It affects many parts of the body including the heart, fingers, toes, face, and the nervous system. It is characterized by long QT syndrome, although some people with Timothy syndrome also have other heart defects that affect the hearts ability to pump blood effectively. Other symptoms of Timothy syndrome include fusion of the skin between fingers or toes and distinctive facial features. In addition, many children with this syndrome have developmental delay and characteristic features of autism. Mental retardation and seizures can also occur in children with Timothy syndrome. There are two forms of Timothy syndrome. Type 1 includes all of the characteristic features described. Type 2 causes a more severe form of long QT syndrome and does not appear to cause fusion of skin between fingers or toes. All cases of Timothy syndrome appear to be due to changes in the CACNA1C gene. This syndrome is inherited in an autosomal dominant manner. However, most cases are not inherited from an affected parent, but occur for the first time in a family due to a spontaneous or random change in the CACNA1C gene.
Question: What is (are) Adenoid cystic carcinoma ?

Answer: Adenoid cystic carcinoma (ACC) is a rare form of adenocarcinoma, which is cancer that begins in gladular tissues. ACC most commonly arises in the head and neck, in various parts of the major and minor salivary glands including the palate, nasopharynx, lining of the mouth, voice box (larynx) or windpipe (trachea). It can also occur in the breast, uterus, or other locations in the body. Early symptoms depend on the tumor's location and may include lumps under the lining of the mouth or facial skin; numbness in the mouth or face; difficulty swallowing; hoarseness; pain; or paralysis of a facial nerve. ACC often has long periods with no growth followed by growth spurts; however, it can be aggressive in some people. ACC spreads along nerves or through the bloodstream, and only spreads to the lymph nodes in about 5-10% of cases. The cause of ACC is currently unknown. Treatment depends on many factors and may include surgery, radiation, and/or chemotherapy.
Question: What is (are) Denys-Drash syndrome ?

Answer: Denys-Drash syndrome is a condition that affects the kidneys and genitalia. Kidney disease typically begins in the first few months of life, often leading to kidney failure in childhood. In addition, up to 90 percent of people with this condition develop a rare form of kidney cancer known as Wilms tumor. Males with Denys-Drash syndrome have gonadal dysgenesis, a condition in which the external genitalia do not look clearly male or clearly female (ambiguous genitalia) or the genitalia appear to be completely female. The testes are also undescended, meaning that they remain in the pelvis, abdomen, or groin. Affected females usually have normal genitalia. For this reason, females with this condition may be diagnosed with isolated nephrotic syndrome. Denys-Drash syndrome is caused by mutations in the WT1 gene. This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. However, most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question: What is (are) Pervasive Developmental Disorders ?

Answer: The diagnostic category of pervasive developmental disorders (PDD) refers to a group of disorders characterized by delays in the development of socialization and communication skills. Parents may note symptoms as early as infancy, although the typical age of onset is before 3 years of age. Symptoms may include problems with using and understanding language; difficulty relating to people, objects, and events; unusual play with toys and other objects; difficulty with changes in routine or familiar surroundings, and repetitive body movements or behavior patterns. Autism (a developmental brain disorder characterized by impaired social interaction and communication skills, and a limited range of activities and interests) is the most characteristic and best studied PDD. Other types of PDD include Asperger's Syndrome, Childhood Disintegrative Disorder, and Rett's Syndrome. Children with PDD vary widely in abilities, intelligence, and behaviors. Some children do not speak at all, others speak in limited phrases or conversations, and some have relatively normal language development. Repetitive play skills and limited social skills are generally evident. Unusual responses to sensory information, such as loud noises and lights, are also common.
Question: What are the genetic changes related to Guillain-Barr syndrome ?

Answer: Some studies show that normal variations in certain genes may be associated with an increased risk of developing Guillain-Barr syndrome; however, more research is necessary to identify and confirm associated genes. Many of the genes that may increase the risk of Guillain-Barr syndrome are involved in the immune system, and their roles in fighting infection may contribute to the development of the condition.  Most people who develop Guillain-Barr syndrome have a bacterial or viral infection prior to developing the signs and symptoms of the condition. However, only a very small percentage of people who have an infection develop Guillain-Barr syndrome. In order to fight the infection, specialized immune cells produce proteins called antibodies that recognize specific proteins or molecules on the bacteria or virus (pathogen). Some research shows that antibodies that recognize molecules on some pathogens may also recognize proteins on the body's own nerves. As a result, the immune system attacks the nerves, causing inflammation and damaging the axons and myelin, which can lead to the signs and symptoms of Guillain-Barr syndrome.