umarjan11/Medical-qna huggingface dataset:
Question: What causes VLCAD deficiency ?

Answer: What causes VLCAD deficiency? VLCAD deficiency is caused by changes (mutations) in the ACADVL gene. This gene encodes an enzyme that is required for the proper break down (metabolism) of a certain group of fats called very long-chain fatty acids. Mutations in the ACADVL gene lead to reduced levels of this enzyme which prevents the proper metabolism of these fats. Because very long-chain fatty acids are an important source of energy, particularly for the heart and muscles, this may result in certain symptoms such as lethargy and hypoglycemia. Fats that are not properly broken down can also build-up and damage tissues such as the heart, liver, and muscles, which can cause the other features seen in people with VLCAD deficiency.
Question: What are the treatments for Glycogen storage disease type 4 ?

Answer: How might glycogen storage disease type 4 be treated? Management of glycogen storage disease type 4 typically focuses on the signs and symptoms that are present in each individual. Studies have show that in some cases, strict dietary therapy can help to maintain normal levels of glucose in the blood, reduce liver size, reduce symptoms, and allow for improved growth and development. Growing evidence indicates that a high-protein diet may improve muscle function in individuals with weakness or exercise intolerance and slow disease progression. Supportive care is typically needed for complications such as liver failure, heart failure, and neurologic dysfunction. Liver transplantation may be necessary for individuals with progressive liver disease. Individuals with cardiomyopathy may require the use of certain medications.
Question: What is (are) Paroxysmal Choreoathetosis ?

Answer: Paroxysmal choreoathetosis is a movement disorder characterized by episodes or attacks of involuntary movements of the limbs, trunk, and facial muscles. The disorder may occur in several members of a family, or in only a single family member. Prior to an attack some individuals experience tightening of muscles or other physical symptoms. Involuntary movements precipitate some attacks, and other attacks occur when the individual has consumed alcohol or caffeine, or is tired or stressed. Attacks can last from 10 seconds to over an hour. Some individuals have lingering muscle tightness after an attack. Paroxysmal choreoathetosis frequently begins in early adolescence. A gene associated with the disorder has been discovered. The same gene is also associated with epilepsy.
Question: What are the treatments for color vision deficiency ?

Answer: These resources address the diagnosis or management of color vision deficiency:  - Gene Review: Gene Review: Red-Green Color Vision Defects  - Genetic Testing Registry: Colorblindness, partial, deutan series  - Genetic Testing Registry: Cone monochromatism  - Genetic Testing Registry: Protan defect  - Genetic Testing Registry: Red-green color vision defects  - Genetic Testing Registry: Tritanopia  - MedlinePlus Encyclopedia: Color Vision Test  - MedlinePlus Encyclopedia: Colorblind   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: Is Stickler syndrome inherited ?

Answer: Stickler syndrome types I, II, and III are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits a gene mutation from one affected parent. Other cases result from new mutations. These cases occur in people with no history of Stickler syndrome in their family.  Marshall syndrome also typically has an autosomal dominant pattern of inheritance.  Stickler syndrome types IV, V, and VI are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Question: What is (are) autosomal recessive congenital stationary night blindness ?

Answer: Autosomal recessive congenital stationary night blindness is a disorder of the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this condition typically have difficulty seeing and distinguishing objects in low light (night blindness). For example, they may not be able to identify road signs at night or see stars in the night sky. They also often have other vision problems, including loss of sharpness (reduced acuity), nearsightedness (myopia), involuntary movements of the eyes (nystagmus), and eyes that do not look in the same direction (strabismus).  The vision problems associated with this condition are congenital, which means they are present from birth. They tend to remain stable (stationary) over time.
Question: What are the genetic changes related to hereditary antithrombin deficiency ?

Answer: Hereditary antithrombin deficiency is caused by mutations in the SERPINC1 gene. This gene provides instructions for producing a protein called antithrombin (previously known as antithrombin III). This protein is found in the bloodstream and is important for controlling blood clotting. Antithrombin blocks the activity of proteins that promote blood clotting, especially a protein called thrombin.  Most of the mutations that cause hereditary antithrombin deficiency change single protein building blocks (amino acids) in antithrombin, which disrupts its ability to control blood clotting. Individuals with this condition do not have enough functional antithrombin to inactivate clotting proteins, which results in the increased risk of developing abnormal blood clots.
Question: What are the genetic changes related to familial paroxysmal kinesigenic dyskinesia ?

Answer: Familial paroxysmal kinesigenic dyskinesia can be caused by mutations in the PRRT2 gene. The function of the protein produced from this gene is unknown, although it is thought to be involved in the development and function of the brain. Studies suggest that the PRRT2 protein interacts with a protein that helps control signaling between nerve cells (neurons). It is thought that PRRT2 gene mutations, which reduce the amount of PRRT2 protein, lead to abnormal neuronal signaling. Altered neuronal activity could underlie the movement problems associated with familial paroxysmal kinesigenic dyskinesia.  Not everyone with this condition has a mutation in the PRRT2 gene. When no PRRT2 gene mutations are found, the cause of the condition is unknown.
Question: What are the treatments for Diarrhea ?

Answer: In most cases of diarrhea, the only treatment necessary is replacing lost fluids and electrolytes to prevent dehydration.
                
Over-the-counter medicines such as loperamide (Imodium) and bismuth subsalicylate (Pepto-Bismol and Kaopectate) may help stop diarrhea in adults. However, people with bloody diarrheaa sign of bacterial or parasitic infectionshould not use these medicines. If diarrhea is caused by bacteria or parasites, over-the-counter medicines may prolong the problem, so doctors usually prescribe antibiotics instead.
                
Medications to treat diarrhea in adults can be dangerous for infants and children and should only be given with a doctors guidance.
Question: What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ?

Answer: Protein is an essential part of any diet. Proteins help build and maintain muscle, bone, skin, connective tissue, internal organs, and blood. They help fight disease and heal wounds. But proteins also break down into waste products that must be removed from the blood by the kidneys. Eating more protein than the body needs may put an extra burden on the kidneys and cause kidney function to decline faster.
                
Health care providers recommend that people with CKD eat moderate or reduced amounts of protein. However, restricting protein could lead to malnutrition, so people with CKD need to be careful. The typical American diet contains more than enough protein. Learning about portion sizes can help people limit protein intake without endangering their health.
Question: What to do for What I need to know about Crohn's Disease ?

Answer: Your health care provider may start you on a special diet, so you get extra nutrition and calories. High-calorie liquid supplements are often used to give you the extra calories and right amount of vitamins and minerals to keep you healthy. During acute phases of the disease, you may need to receive intravenous nutrition to give the intestine a rest.
                
No foods are known to cause injury or inflammation to the intestine. But foods such as hot spices, alcohol, greasy foods, and milk products may make diarrhea and cramping worse. You should eat a healthy diet and avoid foods that make symptoms worse. Your health care provider may refer you to a dietitian to help you with meal planning.
Question: What are the symptoms of Mntriers Disease ?

Answer: The most common symptom of Mntriers disease is pain in the upper middle part of the abdomen. The abdomen is the area between the chest and hips.
                
Other signs and symptoms of Mntriers disease may include
                
- nausea and frequent vomiting  - diarrhea  - loss of appetite  - extreme weight loss  - malnutrition  - low levels of protein in the blood  - swelling of the face, abdomen, limbs, and feet due to low levels of protein in the blood  - anemiatoo few red blood cells in the body, which prevents the body from getting enough oxygendue to bleeding in the stomach
                
People with Mntriers disease have a higher chance of developing stomach cancer, also called gastric cancer.
Question: What are the treatments for Juvenile Myelomonocytic Leukemia ?

Answer: Treatment of juvenile myelomonocytic leukemia (JMML) may include the following:         -  Combination chemotherapy.    -  Stem cell transplant.    -  13-cis-retinoic acid therapy.    - A clinical trial of a new treatment, such as targeted therapy.        Check the list of NCI-supported cancer clinical trials that are now accepting patients with juvenile myelomonocytic leukemia. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Question: What are the symptoms of Primary Myelofibrosis ?

Answer: Symptoms of primary myelofibrosis include pain below the ribs on the left side and feeling very tired. Primary myelofibrosis often does not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by primary myelofibrosis or by other conditions. Check with your doctor if you have any of the following:         - Feeling pain or fullness below the ribs on the left side.    - Feeling full sooner than normal when eating.    - Feeling very tired.    - Shortness of breath.    - Easy bruising or bleeding.    -  Petechiae (flat, red, pinpoint spots under the skin that are caused by bleeding).    -  Fever.    - Night sweats.    - Weight loss.
Question: What is (are) Dwarfism ?

Answer: A dwarf is a person of short stature - under 4' 10" as an adult. More than 200 different conditions can cause dwarfism. A single type, called achondroplasia, causes about 70 percent of all dwarfism. Achondroplasia is a genetic condition that affects about 1 in 15,000 to 1 in 40,000 people. It makes your arms and legs short in comparison to your head and trunk. Other genetic conditions, kidney disease and problems with metabolism or hormones can also cause short stature.    Dwarfism itself is not a disease. However, there is a greater risk of some health problems. With proper medical care, most people with dwarfism have active lives and live as long as other people.
Question: Do you have information about Tornadoes

Answer: Summary : Tornadoes are nature's most violent storms. They are rotating, funnel-shaped clouds that extend from a thunderstorm to the ground. Their whirling winds can reach 300 miles per hour. They can strike quickly with little or no warning, devastate a neighborhood in seconds, and leave a path of damage over a mile wide and 50 miles long. Tornadoes can also accompany tropical storms and hurricanes as they move onto land.    Although there are no guarantees of safety during a tornado, you can take actions to protect yourself. You should have a disaster plan. Being prepared can help reduce fear, anxiety, and losses. If you do experience a disaster, it is normal to feel stressed. You may need help in finding ways to cope.    Federal Emergency Management Agency
Question: What is (are) Bladder Cancer ?

Answer: The bladder is a hollow organ in your lower abdomen that stores urine. Bladder cancer occurs in the lining of the bladder. It is the sixth most common type of cancer in the United States.    Symptoms include       - Blood in your urine    - A frequent urge to urinate    - Pain when you urinate    - Low back pain       Risk factors for developing bladder cancer include smoking and exposure to certain chemicals in the workplace. People with a family history of bladder cancer or who are older, white, or male have a higher risk.    Treatments for bladder cancer include surgery, radiation therapy, chemotherapy, and biologic therapy. Biologic therapy boosts your body's own ability to fight cancer.    NIH: National Cancer Institute
Question: Do you have information about Heart Transplantation

Answer: Summary : A heart transplant removes a damaged or diseased heart and replaces it with a healthy one. The healthy heart comes from a donor who has died. It is the last resort for people with heart failure when all other treatments have failed. The heart failure might have been caused by coronary heart disease, damaged heart valves or heart muscles, congenital heart defects, or viral infections of the heart.    Although heart transplant surgery is a life-saving measure, it has many risks. Careful monitoring, treatment, and regular medical care can prevent or help manage some of these risks.    After the surgery, most heart transplant patients can return to their normal levels of activity. However, fewer than 30 percent return to work for many different reasons.    NIH: National Heart, Lung, and Blood Institute
Question: Do you have information about Critical Care

Answer: Summary : Critical care helps people with life-threatening injuries and illnesses. It might treat problems such as complications from surgery, accidents, infections, and severe breathing problems. It involves close, constant attention by a team of specially-trained health care providers. Critical care usually takes place in an intensive care unit (ICU) or trauma center.    Monitors, intravenous (IV) tubes, feeding tubes, catheters, breathing machines, and other equipment are common in critical care units. They can keep a person alive, but can also increase the risk of infection.    Many patients in critical care recover, but some die. Having advance directives in place is important. They help health care providers and family members make end-of-life decisions if you are not able to make them.
Question: What is (are) HIV/AIDS and Pregnancy ?

Answer: If you have HIV/AIDS and find out you are pregnant or think you may be pregnant, you should let your health care provider know as soon as possible. Some HIV/AIDS medicines may harm your baby. Your health care provider may want you to take different medicines or change the doses.      It is also possible to give HIV to your baby. This is most likely to happen around the time you give birth. For this reason, treatment during this time is very important for protecting your baby from infection. Several treatments may prevent the virus from spreading from you to your baby. Your health care provider can recommend the best one for you.     Your baby will also need to have treatment for at least the first six weeks of life. Regular testing will be needed to find out if your baby is infected.
Question: Do you have information about Child Care

Answer: Summary : Children's healthy development depends on safe and positive experiences when they are very young. If you work or go to school, you want to know that your child is in good hands while you are away. You may choose in-home care, where the caregiver comes to your home. Or your child might go to the caregiver's home. Finally, there are child care centers. You need to choose the one that works for your family.     It is important to get to know your child's caregivers. They will be a big part of your child's life. The caregiver's training should involve       - Knowledge of how young children learn and grow    - Positive, consistent discipline    - Knowledge of the signs that a child is sick    - Cleanliness and safety practices to help keep kids from getting sick or hurt    - Basic first aid
Question: What is (are) Hypothermia ?

Answer: Cold weather can affect your body in different ways. You can get frostbite, which is frozen body tissue. Your body can also lose heat faster than you can produce it. The result is hypothermia, or abnormally low body temperature. It can make you sleepy, confused and clumsy. Because it happens gradually and affects your thinking, you may not realize you need help. That makes it especially dangerous. A body temperature below 95 F is a medical emergency and can lead to death if not treated promptly.     Anyone who spends much time outdoors in cold weather can get hypothermia. You can also get it from being cold and wet, or under cold water for too long. Babies and old people are especially at risk. Babies can get it from sleeping in a cold room.     Centers for Disease Control and Prevention
Question: Do you have information about Anabolic Steroids

Answer: Summary : Anabolic steroids are man-made substances related to male sex hormones. Doctors use anabolic steroids to treat some hormone problems in men, delayed puberty, and muscle loss from some diseases.    Bodybuilders and athletes often use anabolic steroids to build muscles and improve athletic performance. Using them this way is not legal or safe. Abuse of anabolic steroids has been linked with many health problems. They include       -  Acne    -  Breast growth and shrinking of testicles in men     - Voice deepening and growth of facial hair in women     - High blood pressure    - Heart problems, including heart attack    - Liver disease, including cancer    - Kidney damage    - Aggressive behavior        NIH: National Institute on Drug Abuse
Question: What is (are) Klebsiella infection ?

Answer: Klebsiella infections refer to several different types of healthcare-associated infections that are all caused by the Klebsiella bacteria, including pneumonia; bloodstream infections; wound or surgical site infections; and meningitis. Healthy people usually do not get Klebsiella infections. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to these infections. In healthcare settings, people who require long courses of antibiotics and/or devices such as ventilators (breathing machines) or intravenous (vein) catheters are at the most risk for Klebsiella infections. These infections are often treated with antibiotics, although some Klebsiella bacteria may be resistant to certain types of antibiotics.
Question: What is (are) Collagenous colitis ?

Answer: Collagenous colitis is a type of inflammatory bowel disease that affects the colon. It is a form of microscopic colitis, which means that the inflammation is only visible when a biopsy is examined under a microscope; the inflammation cannot be seen or diagnosed from colonoscopy or sigmoidoscopy. Signs and symptoms may be ongoing or intermittent and may include chronic, watery, non-bloody diarrhea and abdominal pain or cramps. The exact underlying cause is unknown but may relate to a bacteria, a virus, an autoimmune response, and/or a genetic predisposition. Treatment for collagenous colitis varies depending on the symptoms and severity in each individual. In some cases, the condition resolves on its own.
Question: What is (are) Anaplastic ganglioglioma ?

Answer: Anaplastic ganglioglioma (AGG) is a very rare type of brain tumor that is a type of ganglioglioma. In general, gangliogliomas are classified as grade I or low grade tumors, meaning that they grow slowly and are considered benign. Anaplastic gangliogliomas, however, are considered grade III or high grade tumors, which means that they are usually aggressive, malignant tumors. The main treatment is removal of the entire tumor during surgery.  If the entire tumor is not removed, it has the potential to recur and may require additional surgery or treatments, such as radiation therapy or chemotherapy.  Unfortunately, because gangliogliomas are quite rare, there is limited information to show that radiation therapy or chemotherapy are effective treatments for this condition.
Question: What causes Adolescent idiopathic scoliosis ?

Answer: What causes adolescent idiopathic scoliosis? The term "idiopathic" means that the cause of this condition is unknown. Adolescent idiopathic scoliosis probably results from a combination of genetic and environmental factors. Studies suggest that the abnormal spinal curvature may be related to hormonal problems, abnormal bone or muscle growth, nervous system abnormalities, or other factors that have not yet been identified. Researchers suspect that many genes are involved in adolescent idiopathic scoliosis. Some of these genes likely contribute to causing the disorder, while others play a role in determining the severity of spinal curvature and whether the curve is stable or progressive. Although many genes have been studied, few clear and consistent genetic associations with this condition have been identified.
Question: Is Leukoencephalopathy with vanishing white matter inherited ?

Answer: How is leukoencephalopathy with vanishing white matter inherited? Leukoencephalopathy with vanishing white matter is inherited in an autosomal recessive manner. This means that a person must have a mutation in both copies of the responsible gene to be affected. The parents of an affected person usually each carry one mutated copy of the gene and are referred to as carriers. Carriers typically do not have signs or symptoms of the condition. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question: What causes Bethlem myopathy ?

Answer: What causes Bethlem myopathy? Bethlem myopathy is caused by mutations in the COL6A1, COL6A2, and COL6A3 genes. These genes each provide instructions for making one component of a protein called type VI collagen. This protein plays an important role in muscle, particularly skeletal muscle. Type VI collagen makes up part of the extracellular matrix, an intricate lattice that forms in the space between cells and provides structural support to the muscles. Mutations in the type VI collagen genes result in the formation of abnormal type VI collagen or reduced amounts of type VI collagen. This decrease in normal type VI collagen disrupts the extracellullar matrix surrounding muscle cells, leading to progressive muscle weakness and the other signs and symptoms of Bethlem myopathy.