umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Allan-Herndon-Dudley syndrome ?

Answer: Allan-Herndon-Dudley syndrome is a rare disorder of brain development that causes moderate to severe intellectual disability and problems with movement. This condition, which occurs exclusively in males, disrupts development from before birth. Although affected males have impaired speech and a limited ability to communicate, they seem to enjoy interaction with other people.  Most children with Allan-Herndon-Dudley syndrome have weak muscle tone (hypotonia) and underdevelopment of many muscles (muscle hypoplasia). As they get older, they usually develop joint deformities called contractures, which restrict the movement of certain joints. Abnormal muscle stiffness (spasticity), muscle weakness, and involuntary movements of the arms and legs also limit mobility. As a result, many people with Allan-Herndon-Dudley syndrome are unable to walk independently and become wheelchair-bound by adulthood.
Question: What is (are) juvenile Paget disease ?

Answer: Juvenile Paget disease is a disorder that affects bone growth. This disease causes bones to be abnormally large, misshapen, and easily broken (fractured).  The signs of juvenile Paget disease appear in infancy or early childhood. As bones grow, they become progressively weaker and more deformed. These abnormalities usually become more severe during the adolescent growth spurt, when bones grow very quickly.  Juvenile Paget disease affects the entire skeleton, resulting in widespread bone and joint pain. The bones of the skull tend to grow unusually large and thick, which can lead to hearing loss. The disease also affects bones of the spine (vertebrae). The deformed vertebrae can collapse, leading to abnormal curvature of the spine. Additionally, weight-bearing long bones in the legs tend to bow and fracture easily, which can interfere with standing and walking.
Question: What are the treatments for Asperger syndrome ?

Answer: These resources address the diagnosis or management of Asperger syndrome:  - Genetic Testing Registry: Asperger syndrome 1  - Genetic Testing Registry: Asperger syndrome 2  - Genetic Testing Registry: Asperger syndrome 3  - Genetic Testing Registry: Asperger syndrome 4  - Genetic Testing Registry: Asperger syndrome X-linked 1  - Genetic Testing Registry: Asperger syndrome X-linked 2  - Genetic Testing Registry: Asperger's disorder  - MedlinePlus Encyclopedia: Asperger Syndrome  - National Institute of Mental Health: How is ASD treated?   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 PMM2-congenital disorder of glycosylation ?

Answer: PMM2-CDG is caused by mutations in the PMM2 gene. This gene provides instructions for making an enzyme called phosphomannomutase 2 (PMM2). The PMM2 enzyme is involved in a process called glycosylation, which attaches groups of sugar molecules (oligosaccharides) to proteins. Glycosylation modifies proteins so they can perform a wider variety of functions. Mutations in the PMM2 gene lead to the production of an abnormal PMM2 enzyme with reduced activity. Without a properly functioning PMM2 enzyme, glycosylation cannot proceed normally. As a result, incorrect oligosaccharides are produced and attached to proteins. The wide variety of signs and symptoms in PMM2-CDG are likely due to the production of abnormally glycosylated proteins in many organs and tissues.
Question: What are the treatments for familial exudative vitreoretinopathy ?

Answer: These resources address the diagnosis or management of familial exudative vitreoretinopathy:  - Gene Review: Gene Review: Familial Exudative Vitreoretinopathy, Autosomal Dominant  - Gene Review: Gene Review: NDP-Related Retinopathies  - Genetic Testing Registry: Exudative vitreoretinopathy 1  - Genetic Testing Registry: Exudative vitreoretinopathy 3  - Genetic Testing Registry: Exudative vitreoretinopathy 4  - Genetic Testing Registry: Familial exudative vitreoretinopathy, X-linked   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 treatments for polycystic kidney disease ?

Answer: These resources address the diagnosis or management of polycystic kidney disease:  - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Dominant  - Gene Review: Gene Review: Polycystic Kidney Disease, Autosomal Recessive  - Genetic Testing Registry: Polycystic kidney disease 2  - Genetic Testing Registry: Polycystic kidney disease 3, autosomal dominant  - Genetic Testing Registry: Polycystic kidney disease, adult type  - Genetic Testing Registry: Polycystic kidney disease, infantile type  - MedlinePlus Encyclopedia: Polycystic kidney 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 treatments for Amyloidosis and Kidney Disease ?

Answer: A health care provider treats dialysis-related amyloidosis with
                
- medication therapy  - newer, more effective hemodialysis filters  - surgery  - a kidney transplant
                
The goal of medication therapy and the use of newer, more effective hemodialysis filters is to reduce amyloid protein levels in the blood. Medication therapy can help reduce symptoms such as pain and inflammation. A health care provider may treat a person with dialysis-related amyloidosis who has bone, joint, and tendon problems, such as bone cysts and carpal tunnel syndrome, using surgery.
                
Dialysis-related amyloidosis has no cure; however, a successful kidney transplant may stop the disease from progressing.
                
More information is provided in the NIDDK health topic, Treatment Methods for Kidney Failure: Transplantation.
Question: What is the outlook for Hairy Cell Leukemia ?

Answer: Certain factors affect treatment options and prognosis (chance of recovery). The treatment options may depend on the following:         - The number of hairy (leukemia) cells and healthy blood cells in the blood and bone marrow.    - Whether the spleen is swollen.    - Whether there are signs or symptoms of leukemia, such as infection.    - Whether the leukemia has recurred (come back) after previous treatment.        The prognosis (chance of recovery) depends on the following:         - Whether the hairy cell leukemia does not grow or grows so slowly it does not need treatment.    - Whether the hairy cell leukemia responds to treatment.        Treatment often results in a long-lasting remission (a period during which some or all of the signs and symptoms of the leukemia are gone). If the leukemia returns after it has been in remission, retreatment often causes another remission.
Question: What is (are) Poisoning ?

Answer: A poison is any substance that is harmful to your body. You might swallow it, inhale it, inject it, or absorb it through your skin. Any substance can be poisonous if too much is taken. Poisons can include       - Prescription or over-the-counter medicines taken in doses that are too high    - Overdoses of illegal drugs    - Carbon monoxide from gas appliances    - Household products, such as laundry powder or furniture polish     - Pesticides     - Indoor or outdoor plants     - Metals such as lead and mercury        The effects of poisoning range from short-term illness to brain damage, coma, and death. To prevent poisoning it is important to use and store products exactly as their labels say. Keep dangerous products where children can't get to them. Treatment for poisoning depends on the type of poison. If you suspect someone has been poisoned, call your local poison control center right away.
Question: What is (are) Paralysis ?

Answer: Paralysis is the loss of muscle function in part of your body. It happens when something goes wrong with the way messages pass between your brain and muscles. Paralysis can be complete or partial. It can occur on one or both sides of your body. It can also occur in just one area, or it can be widespread. Paralysis of the lower half of your body, including both legs, is called paraplegia. Paralysis of the arms and legs is quadriplegia.     Most paralysis is due to strokes or injuries such as spinal cord injury or a broken neck. Other causes of paralysis include       - Nerve diseases such as amyotrophic lateral sclerosis    -  Autoimmune diseases such as Guillain-Barre syndrome    -  Bell's palsy, which affects muscles in the face       Polio used to be a cause of paralysis, but polio no longer occurs in the U.S.
Question: What is (are) Elder Abuse ?

Answer: Many older people are victims of elder abuse. It is the mistreatment of an older person, usually by a caregiver. It can happen within the family. It can also happen in assisted living facilities or nursing homes.    The mistreatment may be       - Physical, sexual, or emotional abuse    - Neglect or abandonment    - Financial abuse - stealing of money or belongings       Possible signs of elder abuse include unexplained bruises, burns, and injuries. There may also be bed sores and poor hygiene. The person may become withdrawn, agitated, and depressed. There may be a sudden change in the person's financial situation.    Elder abuse will not stop on its own. Someone else needs to step in and help. If you think that an older person is in urgent danger, call 9-1-1. Otherwise, contact adult protective services.    NIH: National Institute on Aging
Question: Do you have information about Birth Weight

Answer: Summary : Birth weight is the first weight of your baby, taken just after he or she is born. A low birth weight is less than 5.5 pounds. A high birth weight is more than 8.8 pounds.    A low birth weight baby can be born too small, too early (premature), or both. This can happen for many different reasons. They include health problems in the mother, genetic factors, problems with the placenta and substance abuse by the mother.    Some low birth weight babies may be more at risk for certain health problems. Some may become sick in the first days of life or develop infections. Others may suffer from longer-term problems such as delayed motor and social development or learning disabilities.    High birth weight babies are often big because the parents are big, or the mother has diabetes during pregnancy. These babies may be at a higher risk of birth injuries and problems with blood sugar.    Centers for Disease Control and Prevention
Question: What are the treatments for Sclerosing mesenteritis ?

Answer: How might sclerosing mesenteritis be treated? Treatment for sclerosing mesenteritis is most often based on the stage of the disease. In the early stage when fat necrosis predominates, many physicians tend not to treat because the disease process may regress spontaneously. When chronic inflammation becomes a prominent feature but fibrosis is not yet fully developed, medical treatment with corticosteroids, colchicine, immunosuppressants, or orally administered progesterone may be beneficial in the prevention of disease progression. These medications are only given for a short period since they can cause serious side effects. Some studies have shown that patients with sclerosing mesenteritis may benefit from a drug combination of tamoxifen and prednisone. When fibrosis becomes extensive, especially when the disease presents as a large fibrotic mass with bowel obstruction, surgical interventions may be necessary.
Question: What is (are) Mikulicz disease ?

Answer: Mikulicz disease is a chronic condition characterized by the abnormal enlargement of glands in the head and neck, including those near the ears (parotids), around the eyes (lacrimal), and around the mouth (salivary). The tonsils and other glands in the soft tissue of the face and neck can also be affected. Although this condition is usually benign, it always occurs in association with another underlying disorder such as tuberculosis, leukemia, syphilis, Hodgkin's disease, Sjogren syndrome, or systemic lupus erythematosus. People with Mikulicz disease are at greater risk of developing lymphomas. Some people may experience recurring fevers accompanied by dry eyes, diminished tear production, and inflammation of various parts of the eyes (uveitis). The exact cause of Mikulicz syndrome is unknown. But some researchers believe that it should be considered a form of Sjogren syndrome.
Question: What is (are) Giant congenital nevus ?

Answer: A giant congenital nevus is a dark-colored, often hairy patch of skin that is present at birth (congenital). It grows proportionally to the child. A congenital pigmented nevus is considered giant if by adulthood it is larger than 20cm (about 8 inches) in diameter. Giant congenital nevi can occur in people of any racial or ethnic background and on any area of the body. They result from localized genetic changes in the fetus that lead to excessive growth of melanocytes, the cells in the skin that are responsible for skin color. People with giant congenital nevi may experience a number of complications ranging from fragile, dry, or itchy skin to neurological problems like neurocutaneous melanocytosis (excess pigment cells in the brain or spinal cord). They also have an increased risk of developing malignant melanoma, a type of skin cancer.
Question: How to diagnose Gerstmann-Straussler-Scheinker disease ?

Answer: How is Gerstmann-Straussler-Scheinker disease diagnosed? The diagnosis of Gerstmann-Straussler-Scheinker disease (GSS) is based on a combination of the following: Characteristic signs and symptoms Nervous system findings including multiple amyloid plaques (clumps which form in the brain and cause the death of nerve cells and the progressive symptoms of the disease) A family history consistent with autosomal dominant inheritance Identification of a disease-causing mutation of the PRNP gene Genetic testing for at-risk relatives who do not yet have symptoms of GSS is possible if the disease-causing mutation in the family is known. This testing is not useful in predicting age of onset, severity, type of symptoms, or rate of progression. Testing for the disease-causing mutation in the absence of definite symptoms of the disease is called predictive testing.
Question: What are the treatments for Cornelia de Lange syndrome ?

Answer: How might Cornelia de Lange syndrome be treated? Because Cornelia de Lange syndrome (CdLS) affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this condition varies based on the signs and symptoms present in each person. For example, many people affected by CdLS have poor growth after birth and may require supplemental formulas and/or gastrostomy tube placement to meet nutritional needs. Ongoing physical, occupational, and speech therapies are often recommended to optimize developmental potential. Surgery may be necessary to treat skeletal abnormalities, gastrointestinal problems, congenital heart defects and other health problems. Medications may be prescribed to prevent or control seizures. The CdLS foundation's Web site offers more specific information about the treatment and management of CdLS. Please click on the link to access this resource.
Question: What causes Fibrolamellar carcinoma ?

Answer: What causes fibrolamellar carcinoma? The exact underlying cause of fibrolamellar carcinoma (FLC) is poorly understood. Other forms of liver cancer are often associated with liver cirrhosis (scarring of the liver) which may be caused by alcohol abuse; autoimmune diseases of the liver; Hepatitis B or C viral infections; chronic inflammation of the liver; and/or hemochromatosis. However, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. Recent research suggests that a deletion on chromosome 19 may play a key role in the formation of FLC. This deletion is called a "somatic mutation" since it is only present in the cells of the liver. Somatic mutations accumulate during a person's lifetime and are not inherited or passed on to future generations.
Question: Is Uncombable hair syndrome inherited ?

Answer: Is uncombable hair syndrome inherited? Uncombable hair syndrome (UHS) is thought to be inherited in an autosomal dominant manner with reduced penetrance. Autosomal dominant means that having a change (mutation) in only one copy of the responsible gene in each cell is enough to cause features of the condition. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. Reduced penetrance means that not all people with a mutation in the responsible gene will have the condition. For this reason, conditions with reduced penetrance may appear to "skip a generation" or may appear to occur for the first time (or only once) in a family. While people with UHS often report a negative family history, the characteristic hair shaft abnormality seen in affected people can still be seen in unaffected family members by looking at their hair under a specific type of microscope.
Question: What is (are) Idiopathic inflammatory myopathy ?

Answer: Idiopathic inflammatory myopathy refers to a group of conditions that affect the skeletal muscles (muscles used for movement). Although the condition can be diagnosed at any age, idiopathic inflammatory myopathy most commonly occurs in adults between ages 40 and 60 years or in children between ages 5 and 15 years. Signs and symptoms of the condition include muscle weakness, joint pain and fatigue. There are several forms of idiopathic inflammatory myopathy, including polymyositis, dermatomyositis, and sporadic inclusion body myositis, which are each associated with unique features. As the name suggests, the cause of the condition is currently unknown (idiopathic). However, researchers suspect that it may occur due to a combination of genetic and environmental factors. Treatment is supportive and based on the signs and symptoms present in each person.
Question: How to prevent Crimean-Congo Hemorrhagic Fever (CCHF) ?

Answer: Agricultural workers and others working with animals should use insect repellent on exposed skin and clothing. Insect repellants containing DEET (N, N-diethyl-m-toluamide) are the most effective in warding off ticks. Wearing gloves and other protective clothing is recommended. Individuals should also avoid contact with the blood and body fluids of livestock or humans who show symptoms of infection. It is important for healthcare workers to use proper infection control precautions to prevent occupational exposure. 
                
An inactivated, mouse-brain derived vaccine against CCHF has been developed and is used on a small scale in Eastern Europe. However, there is no safe and effective vaccine currently available for human use. Further research is needed to develop these potential vaccines as well as determine the efficacy of different treatment options including ribavirin and other antiviral drugs.
Question: How to diagnose Parasites - Lymphatic Filariasis ?

Answer: The standard method for diagnosing active infection is the identification of microfilariae in a blood smear by microscopic examination. The microfilariae that cause lymphatic filariasis circulate in the blood at night (called nocturnal periodicity). Blood collection should be done at night to coincide with the appearance of the microfilariae, and a thick smear should be made and stained with Giemsa or hematoxylin and eosin. For increased sensitivity, concentration techniques can be used.
    
Serologic techniques provide an alternative to microscopic detection of microfilariae for the diagnosis of lymphatic filariasis. Patients with active filarial infection typically have elevated levels of antifilarial IgG4 in the blood and these can be detected using routine assays.
    
Because lymphedema may develop many years after infection, lab tests are most likely to be negative with these patients.
Question: Who is at risk for Bronchitis? ?

Answer: Bronchitis is a very common condition. Millions of cases occur every year.
                
Elderly people, infants, and young children are at higher risk for acute bronchitis than people in other age groups.
                
People of all ages can develop chronic bronchitis, but it occurs more often in people who are older than 45. Also, many adults who develop chronic bronchitis are smokers. Women are more than twice as likely as men to be diagnosed with chronic bronchitis.
                
Smoking and having an existing lung disease greatly increase your risk for bronchitis. Contact with dust, chemical fumes, and vapors from certain jobs also increases your risk for the condition. Examples include jobs in coal mining, textile manufacturing, grain handling, and livestock farming.
                
Air pollution, infections, and allergies can worsen the symptoms of chronic bronchitis, especially if you smoke.
Question: What are the treatments for Central Pontine Myelinolysis ?

Answer: The ideal treatment for myelinolysis is to prevent the disorder by identifying individuals at risk and following careful guidelines for evaluation and correction of hyponatremia. These guidelines aim to safely restore the serum sodium level, while protecting the brain. For those who have hyponatremia for at least 2 days, or for whom the duration is not known, the rate of rise in the serum sodium concentration should be kept below 10 mmol/L during any 24-hour period, if possible.
                
For those who develop myelinolysis, treatment is supportive. Some physicians have tried to treat myelinolysis with steroid medication or other experimental therapies, but none has been proven effective. Individuals are likely to require extensive and prolonged physical therapy and rehabilitation. Those individuals who develop parkinsonian symptoms may respond to the dopaminergic drugs that work for individuals with Parkinsons disease.
Question: What are the genetic changes related to North American Indian childhood cirrhosis ?

Answer: North American Indian childhood cirrhosis results from at least one known mutation in the UTP4 gene. This gene provides instructions for making a protein called cirhin, whose precise function is unknown. Within cells, cirhin is located in a structure called the nucleolus, which is a small region inside the nucleus where ribosomal RNA (rRNA) is produced. A chemical cousin of DNA, rRNA is a molecule that helps assemble protein building blocks (amino acids) into functioning proteins. Researchers believe that cirhin may play a role in processing rRNA. Studies also suggest that cirhin may function by interacting with other proteins.  Cirhin is found in many different types of cells, so it is unclear why the effects of North American Indian childhood cirrhosis appear to be limited to the liver. Researchers are working to determine how a UTP4 gene mutation causes the progressive liver damage characteristic of this disorder.
Question: What are the genetic changes related to propionic acidemia ?

Answer: Mutations in the PCCA and PCCB genes cause propionic acidemia.  The PCCA and PCCB genes provide instructions for making two parts (subunits) of an enzyme called propionyl-CoA carboxylase. This enzyme plays a role in the normal breakdown of proteins. Specifically, it helps process several amino acids, which are the building blocks of proteins. Propionyl-CoA carboxylase also helps break down certain types of fat and cholesterol in the body. Mutations in the PCCA or PCCB gene disrupt the function of the enzyme and prevent the normal breakdown of these molecules. As a result, a substance called propionyl-CoA and other potentially harmful compounds can build up to toxic levels in the body. This buildup damages the brain and nervous system, causing the serious health problems associated with propionic acidemia.