umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Limb-girdle muscular dystrophy type 2I ?

Answer: Limb-girdle muscular dystrophy type 2I (LGMD2I) is a form of limb-girdle muscular dystrophy, which refers to a group of conditions that cause weakness and wasting of the muscles in the arms and legs. The proximal muscles (those closest to the body such as the upper arms and thighs) are generally most affected by the condition. In LGMD2I, specifically, signs and symptoms often develop in late childhood (average age 11.5 years) and may include difficulty running and walking. The symptoms gradually worsen overtime and affected people generally rely on a wheelchair for mobility approximately 23-26 years after onset. LGMD2I is caused by changes (mutations) in the FKRP gene and is inherited in an autosomal recessive manner. There is, unfortunately, no cure for LGMD2I and treatment is based on the signs and symptoms present in each person.
Question: What are the treatments for Abetalipoproteinemia ?

Answer: How might abetalipoproteinemia be treated? A nutritionist or other qualified medical professional should be consulted for specific dietary instruction in people with abetalipoproteinemia. Treatment involves very large doses of vitamin E, as well as large doses of vitamin supplements containing other fat-soluble vitamins (vitamin A, vitamin D, and vitamin K). Linoleic acid supplements are also recommended. Several diet changes and/or restrictions are also needed to prevent stomach problems. A low-fat diet may help with digestive symptoms; medium chain triglycerides may be used (under supervision of a specialist) as a source of fat in the diet. Management in adults typically focuses on specific complications associated with the disorder, and depends on the signs and symptoms present. Affected people may need consultations with several other types of specialists, including a lipidologist, gastroenterologist, hepatologist, ophthalmologist, and neurologist.
Question: What is (are) Neuroleptic malignant syndrome ?

Answer: Neuroleptic malignant syndrome is a rare neurological condition that is caused by an adverse reaction to neuroleptic (tranquilizer) or antipsychotic drugs. These drugs are commonly prescribed for the treatment of schizophrenia and other neurological, mental, or emotional disorders. Affected people may experience high fever, muscle stiffness, sweating, unstable blood pressure, altered mental status, and autonomic dysfunction. In most cases, the condition develops within the first 2 weeks of treatment with the drug; however, it may develop any time during the therapy period. The exact underlying cause of neuroleptic malignant syndrome is unknown. In some cases, more than one family member can be affected which suggests there may be a genetic component. Upon diagnosis of the condition, the neuroleptic or antipsychotic drug is generally discontinued under a physician's supervision. Medications and/or other interventions may also be recommended to manage symptoms.
Question: What is (are) Neuroferritinopathy ?

Answer: Neuroferritinopathy is a movement disorder caused by the gradual accumulation of iron in the basal ganglia of the brain. People with neuroferritinopathy have progressive problems with movement that begin at about age 40. These movement problems can include involuntary jerking motions (chorea), rhythmic shaking (tremor), difficulty coordinating movements (ataxia), or uncontrolled tensing of muscles (dystonia). Symptoms of the disorder may be more prominent on one side of the body. Affected individuals may also have difficulty swallowing (dysphagia) and speaking (dysarthria). Intelligence is generally unaffected, but some individuals develop a gradual decline in thinking and reasoning abilities (dementia). Personality changes such as reduced inhibitions and difficulty controlling emotions may also occur as the disorder progresses. Neuroferritinopathy is caused by mutations in the FTL gene. It is inherited in an autosomal dominant fashion.
Question: What causes Hypersensitivity Pneumonitis ?

Answer: Repeatedly breathing in foreign substances can cause hypersensitivity pneumonitis (HP). Examples of these substances include molds, dusts, and chemicals. (Mold often is the cause of HP.) These substances also are known as antigens.
                
Over time, your lungs can become sensitive to antigens. If this happens, your lungs will become inflamed, which can lead to symptoms and may even cause long-term lung damage.
                
Antigens may be found in the home, workplace, or in other settings. Antigens can come from many sources, such as:
                
Bird droppings
                
Humidifiers, heating systems, and hot tubs
                
Liquid chemicals used in the landscaping and florist industries
                
Moldy hay, straw, and grain
                
Chemicals released during the production of plastics and electronics, and chemicals released during painting
                
Mold released during lumber milling, construction, and wood stripping
Question: What is (are) Febrile Seizures ?

Answer: Febrile seizures are convulsions or seizures in infants or small children that are brought on by a fever. Most often during a febrile seizure, a child loses consciousness and shakes uncontrollably. Less commonly, a child becomes rigid or has twitches in only a portion of the body. Most febrile seizures last a minute or two; some can be as brief as a few seconds, while others may last for more than 15 minutes. Approximately one in every 25 children will have at least one febrile seizure. Febrile seizures usually occur in children between the ages of 6 months and 5 years, with the risk peaking in the second year of life. The older a child is when the first febrile seizure occurs, the less likely that child is to have more. A few factors appear to boost a child's risk of having recurrent febrile seizures, including young age (less than 18 months) during the first seizures and having immediate family members with a history of febrile seizures.
Question: What are the treatments for Back Pain ?

Answer: Most low back pain can be treated without surgery. Treatment involves using over-the-counter pain relievers to reduce discomfort and anti-inflammatory drugs to reduce inflammation. The goal of treatment is to restore proper function and strength to the back, and prevent recurrence of the injury. Medications are often used to treat acute and chronic low back pain. Effective pain relief may involve a combination of prescription drugs and over-the-counter remedies. Although the use of cold and hot compresses has never been scientifically proven to quickly resolve low back injury, compresses may help reduce pain and inflammation and allow greater mobility for some individuals. Bed rest is recommended for only 12 days at most. Individuals should resume activities as soon as possible. Exercise may be the most effective way to speed recovery from low back pain and help strengthen back and abdominal muscles. In the most serious cases, when the condition does not respond to other therapies, surgery may relieve pain caused by back problems or serious musculoskeletal injuries.
Question: What are the treatments for Hirschsprung disease ?

Answer: These resources address the diagnosis or management of Hirschsprung disease:  - Cedars-Sinai: Treating Hirschsprung's Disease (Colonic Aganglionosis)  - Gene Review: Gene Review: Hirschsprung Disease Overview  - Genetic Testing Registry: Hirschsprung disease 1  - Genetic Testing Registry: Hirschsprung disease 2  - Genetic Testing Registry: Hirschsprung disease 3  - Genetic Testing Registry: Hirschsprung disease 4  - North American Society for Pediatric Gastroenterology, Hepatology, and Nutrition: Hirschsprung's Disease  - Seattle Children's: Hirschsprung's Disease: Symptoms and Diagnosis   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 malignant hyperthermia ?

Answer: These resources address the diagnosis or management of malignant hyperthermia:  - Gene Review: Gene Review: Malignant Hyperthermia Susceptibility  - Genetic Testing Registry: Malignant hyperthermia susceptibility type 1  - Genetic Testing Registry: Malignant hyperthermia susceptibility type 2  - Genetic Testing Registry: Malignant hyperthermia susceptibility type 3  - Genetic Testing Registry: Malignant hyperthermia susceptibility type 4  - Genetic Testing Registry: Malignant hyperthermia susceptibility type 5  - Genetic Testing Registry: Malignant hyperthermia susceptibility type 6  - MedlinePlus Encyclopedia: Malignant Hyperthermia   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 malonyl-CoA decarboxylase deficiency ?

Answer: Mutations in the MLYCD gene cause malonyl-CoA decarboxylase deficiency. The MLYCD gene provides instructions for making an enzyme called malonyl-CoA decarboxylase. Within cells, this enzyme helps regulate the formation and breakdown of a group of fats called fatty acids. Many tissues, including the heart muscle, use fatty acids as a major source of energy.  Mutations in the MLYCD gene reduce or eliminate the function of malonyl-CoA decarboxylase. A shortage of this enzyme disrupts the normal balance of fatty acid formation and breakdown in the body. As a result, fatty acids cannot be converted to energy, which can lead to characteristic features of this disorder including low blood sugar and cardiomyopathy. Byproducts of fatty acid processing build up in tissues, which also contributes to the signs and symptoms of malonyl-CoA decarboxylase deficiency.
Question: What are the genetic changes related to Langerhans cell histiocytosis ?

Answer: Somatic mutations in the BRAF gene have been identified in the Langerhans cells of about half of individuals with Langerhans cell histiocytosis. Somatic gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes are not inherited.  The BRAF gene provides instructions for making a protein that is normally switched on and off in response to signals that control cell growth and development. Somatic mutations cause the BRAF protein in affected cells to be continuously active and to transmit messages to the nucleus even in the absence of these chemical signals. The overactive protein may contribute to the development of Langerhans cell histiocytosis by allowing the Langerhans cells to grow and divide uncontrollably.  Changes in other genes have also been identified in the Langerhans cells of some individuals with Langerhans cell histiocytosis. Some researchers believe that additional factors, such as viral infections and environmental toxins, may also influence the development of this complex disorder.
Question: What are the genetic changes related to Snyder-Robinson syndrome ?

Answer: Snyder-Robinson syndrome results from mutations in the SMS gene. This gene provides instructions for making an enzyme called spermine synthase. This enzyme is involved in the production of spermine, which is a type of small molecule called a polyamine. Polyamines have many critical functions within cells. Studies suggest that these molecules play roles in cell growth and division, the production of new proteins, the repair of damaged tissues, the function of molecules called ion channels, and the controlled self-destruction of cells (apoptosis). Polyamines appear to be necessary for normal development and function of the brain and other parts of the body.  Mutations in the SMS gene greatly reduce or eliminate the activity of spermine synthase, which decreases the amount of spermine in cells. A shortage of this polyamine clearly impacts normal development, including the development of the brain, muscles, and bones, but it is unknown how it leads to the specific signs and symptoms of Snyder-Robinson syndrome.
Question: What are the genetic changes related to Kniest dysplasia ?

Answer: Kniest dysplasia is one of a spectrum of skeletal disorders caused by mutations in the COL2A1 gene. This gene provides instructions for making a protein that forms type II collagen. This type of collagen is found mostly in the clear gel that fills the eyeball (the vitreous) and in cartilage. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears. Type II collagen is essential for the normal development of bones and other connective tissues that form the body's supportive framework.  Most mutations in the COL2A1 gene that cause Kniest dysplasia interfere with the assembly of type II collagen molecules. Abnormal collagen prevents bones and other connective tissues from developing properly, which leads to the signs and symptoms of Kniest dysplasia.
Question: What is (are) Weyers acrofacial dysostosis ?

Answer: Weyers acrofacial dysostosis is a disorder that affects the development of the teeth, nails, and bones. Dental abnormalities can include small, peg-shaped teeth; fewer teeth than normal (hypodontia); and one front tooth instead of two (a single central incisor). Additionally, the lower jaw (mandible) may be abnormally shaped. People with Weyers acrofacial dysostosis have abnormally small or malformed fingernails and toenails. Most people with the condition are relatively short, and they may have extra fingers or toes (polydactyly).  The features of Weyers acrofacial dysostosis overlap with those of another, more severe condition called Ellis-van Creveld syndrome. In addition to tooth and nail abnormalities, people with Ellis-van Creveld syndrome have very short stature and are often born with heart defects. The two conditions are caused by mutations in the same genes.
Question: What are the genetic changes related to early-onset primary dystonia ?

Answer: A particular mutation in the TOR1A gene (also known as DYT1) is responsible for most cases of early-onset primary dystonia. The TOR1A gene provides instructions for making a protein called torsinA. Although little is known about its function, this protein may help process and transport other proteins within cells. It appears to be critical for the normal development and function of nerve cells in the brain.  A mutation in the TOR1A gene alters the structure of torsinA. The altered protein's effect on the function of nerve cells in the brain is unclear. People with early-onset primary dystonia do not have a loss of nerve cells or obvious changes in the structure of the brain that would explain the abnormal muscle contractions. Instead, the altered torsinA protein may have subtle effects on the connections between nerve cells and likely disrupts chemical signaling between nerve cells that control movement. Researchers are working to determine how a change in this protein leads to the characteristic features of this disorder.
Question: What is (are) Birt-Hogg-Dub syndrome ?

Answer: Birt-Hogg-Dub syndrome is a rare disorder that affects the skin and lungs and increases the risk of certain types of tumors. Its signs and symptoms vary among affected individuals.  Birt-Hogg-Dub syndrome is characterized by multiple noncancerous (benign) skin tumors, particularly on the face, neck, and upper chest. These growths typically first appear in a person's twenties or thirties and become larger and more numerous over time. Affected individuals also have an increased chance of developing cysts in the lungs and an abnormal accumulation of air in the chest cavity (pneumothorax) that may result in the collapse of a lung. Additionally, Birt-Hogg-Dub syndrome is associated with an elevated risk of developing cancerous or noncancerous kidney tumors. Other types of cancer have also been reported in affected individuals, but it is unclear whether these tumors are actually a feature of Birt-Hogg-Dub syndrome.
Question: What causes Nephrotic Syndrome in Adults ?

Answer: Nephrotic syndrome can be caused by diseases that affect only the kidneys, such as focal segmental glomerulosclerosis (FSGS) or membranous nephropathy. Diseases that affect only the kidneys are called primary causes of nephrotic syndrome. The glomeruli are usually the targets of these diseases for reasons that are not fully understood. In FSGSthe most common primary cause of nephrotic syndromescar tissue forms in parts of the glomeruli. In membranous nephropathy, immune molecules form harmful deposits on the glomeruli.
                
Nephrotic syndrome can also be caused by systemic diseases, which are diseases that affect many parts of the body, such as diabetes or lupus. Systemic diseases that affect the kidneys are called secondary causes of nephrotic syndrome. More than 50 percent of nephrotic syndrome cases in adults have secondary causes, with diabetes being the most common.1
Question: What is (are) Prostate Enlargement: Benign Prostatic Hyperplasia ?

Answer: Benign prostatic hyperplasiaalso called BPHis a condition in men in which the prostate gland is enlarged and not cancerous. Benign prostatic hyperplasia is also called benign prostatic hypertrophy or benign prostatic obstruction.
                
The prostate goes through two main growth periods as a man ages. The first occurs early in puberty, when the prostate doubles in size. The second phase of growth begins around age 25 and continues during most of a mans life. Benign prostatic hyperplasia often occurs with the second growth phase.
                
As the prostate enlarges, the gland presses against and pinches the urethra. The bladder wall becomes thicker. Eventually, the bladder may weaken and lose the ability to empty completely, leaving some urine in the bladder. The narrowing of the urethra and urinary retentionthe inability to empty the bladder completelycause many of the problems associated with benign prostatic hyperplasia.
Question: What is (are) Zollinger-Ellison Syndrome ?

Answer: The stomach, duodenum, and pancreas are digestive organs that break down food and liquid.
                
- The stomach stores swallowed food and liquid. The muscle action of the lower part of the stomach mixes the food and liquid with digestive juice. Partially digested food and liquid slowly move into the duodenum and are further broken down.  - The duodenum is the first part of the small intestinethe tube-shaped organ between the stomach and the large intestinewhere digestion of the food and liquid continues.  - The pancreas is an organ that makes the hormone insulin and enzymes for digestion. A hormone is a natural chemical produced in one part of the body and released into the blood to trigger or regulate particular functions of the body. Insulin helps cells throughout the body remove glucose, also called sugar, from blood and use it for energy. The pancreas is located behind the stomach and close to the duodenum.
Question: What to do for Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ?

Answer: - Microscopic colitis is an inflammation of the colon that a health care provider can see only with a microscope.  - The two types of microscopic colitis are collagenous colitis and lymphocytic colitis.  - The exact cause of microscopic colitis is unknown.  - Microscopic colitis is most common in females age 50 years or older.  - The most common symptom of microscopic colitis is chronic, watery, nonbloody diarrhea.  - A pathologista doctor who specializes in diagnosing diseasesdiagnoses microscopic colitis based on the findings of multiple biopsies taken throughout the colon.  - Treatment depends on the severity of symptoms.  - The gastroenterologist may prescribe medications to help control symptoms.  - Medications are almost always effective in treating microscopic colitis.  - The gastroenterologist may recommend eating, diet, and nutrition changes.
Question: What are the stages of Childhood Central Nervous System Germ Cell Tumors ?

Answer: Key Points
								                    - Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord.
								                
								                
								                    Childhood central nervous system (CNS) germ cell tumors rarely spread outside of the brain and spinal cord.
								                    Staging is the process used to find out how much cancer there is and if cancer has spread. There is no standard staging system for childhood central nervous system (CNS) germ cell tumors. The treatment plan depends on the following:         - The type of germ cell tumor.    - Whether the tumor has spread within the CNS or to other parts of the body.    - The results of tests and procedures done to diagnose childhood CNS germ cell tumors.     - Whether the tumor is newly diagnosed or has recurred (come back) after treatment.
Question: Who is at risk for Retinoblastoma? ?

Answer: A child who has heritable retinoblastoma has an increased risk of trilateral retinoblastoma and other cancers. A child with heritable retinoblastoma has an increased risk of a pineal tumor in the brain. When retinoblastoma and a brain tumor occur at the same time, it is called trilateral retinoblastoma. The brain tumor is usually diagnosed between 20 and 36 months of age. Regular screening using MRI (magnetic resonance imaging) may be done for a child thought to have heritable retinoblastoma or for a child with retinoblastoma in one eye and a family history of the disease. CT (computerized tomography) scans are usually not used for routine screening in order to avoid exposing the child to ionizing radiation.    Heritable retinoblastoma also increases the child's risk of other types of cancer such as lung cancer, bladder cancer, or melanoma in later years. Regular follow-up exams are important.
Question: Do you have information about Radiation Therapy

Answer: Summary : Radiation therapy is a cancer treatment. It uses high doses of radiation to kill cancer cells and stop them from spreading. About half of all cancer patients receive it. The radiation may be external, from special machines, or internal, from radioactive substances that a doctor places inside your body. The type of radiation therapy you receive depends on many factors, including       - The type of cancer    - The size of the cancer    - The cancer's location in the body    - How close the cancer is to normal tissues that are sensitive to radiation    - How far into the body the radiation needs to travel    - Your general health and medical history    - Whether you will have other types of cancer treatment    - Other factors, such as your age and other medical conditions       Radiation therapy can damage normal cells as well as cancer cells. Treatment must be carefully planned to minimize side effects. Common side effects include skin changes and fatigue. Other side effects depend on the part of your body being treated.    Sometimes radiation is used with other treatments, like surgery or chemotherapy.     NIH: National Cancer Institute