umarjan11/Medical-qna huggingface dataset:
Question: What causes Omenn syndrome ?

Answer: What causes Omenn syndrome? Omenn syndrome is a genetically heterogeneous condition (meaning that it may be caused by a number of different genes). While most cases are attributed to mutations in the RAG genes (RAG-1 and RAG2 genes have been mapped to chromosome band 11p13), recent reports describe Omenn syndrome in the absence of RAG mutations. Omenn syndrome caused by mutations in ARTEMIS, ADA, ILRA2, ILRA7, CHD7, and DNA ligase 4 have been described in the medical literature. Some cases of Omenn syndrome have also been found in association with 22q11 microdeletion syndrome.
Question: What is (are) Ornithine transcarbamylase deficiency ?

Answer: Ornithine transcarbamylase (OTC) deficiency is an inherited disorder that causes ammonia to accumulate in the blood. Ammonia, which is formed when proteins are broken down in the body, is toxic if the levels become too high. The nervous system is especially sensitive to the effects of excess ammonia. The signs and symptoms of OTC deficiency may include development delay, intellectual disability and liver problems. It is caused by changes (mutations) in the OTC gene. OTC deficiency is inherited as an X-linked condition. Treatment consists of not eating protein, taking certain medications and having hemodialysis, if needed.
Question: What is (are) Essential tremor ?

Answer: Essential tremor is the most common movement disorder.  It is characterized by involuntary and rhythmic shaking (tremor), especially in the hands, without any other signs or symptoms. It is distinguished from tremor that results from other disorders or known causes, such as tremors seen with Parkinson disease or head trauma. Most cases of essential tremor are hereditary. There are five forms of essential tremor that are based on different genetic causes. Several genes as well as lifestyle and environmental factors likely play a role in a person's risk of developing this complex condition. In mild cases, treatment may not be necessary. In cases where symptoms interfere with daily living, medications may help to relieve symptoms.
Question: What is (are) Down syndrome ?

Answer: Down syndrome is a chromosome disorder associated with intellectual disability, a characteristic facial appearance, and low muscle tone in infancy. The degree of intellectual disability varies from mild to moderate. People with Down syndrome may also be born with various health concerns such as heart defects or digestive abnormalities. They also have an increased risk to develop gastroesophageal reflux, celiac disease, hypothyroidism, hearing and vision problems, leukemia, and Alzheimer disease. Down syndrome is caused by having three copies of chromosome 21 (called trisomy 21) instead of the usual two copies and is typically not inherited. Treatment focuses on the specific symptoms in each person.
Question: What is (are) Congenital mirror movement disorder ?

Answer: Congenital mirror movement disorder (CMM) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). Affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms. In most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements; however, the severity of symptoms can vary significantly, even among family members. CMM can be caused by changes (mutations) in the DCC or RAD51 genes and inherited in an autosomal dominant manner. In some families, the exact underlying cause of CMM is unknown.
Question: What causes Gerstmann-Straussler-Scheinker disease ?

Answer: What causes Gerstmann-Straussler-Scheinker disease? Gerstmann-Straussler-Scheinker disease (GSS) is usually caused by certain changes (mutations) in the PRNP gene. PRNP encodes a protein called prion protein. Although the exact function of this protein is unknown, it appears to play an important role in the human brain and other tissues throughout the body. People affected by GSS generally have mutations in the PRNP gene that result in the production of an abnormally shaped prion protein. The abnormal protein builds up in the brain, forming clumps that damage or destroy neurons. This loss of brain cells leads to the signs and symptoms of GSS.
Question: How to diagnose Pigmented villonodular synovitis ?

Answer: How is pigmented villonodular synovitis diagnosed? Pigmented villonodular synovitis (PVNS) is diagnosed via physician examination, imaging studies, and sometimes surgical procedures. Imaging studies commonly used include: X-ray, MRI, and CT scan. MRI findings are diagnostic in more than 95% of patients. CT scan findings are additionally often diagnostic, though they might not show the extent of the disease. Other methods that might be utilized in the diagnostic process include joint aspiration, in which a needle is used to remove fluid from the joint and a biopsy, in which a small operation is completed to obtain a tissue sample.
Question: What is (are) Erdheim-Chester disease ?

Answer: Erdheim-Chester disease is a rare condition that can affect many different organs of the body. This condition, which usually affects adults, is characterized by excessive production and accumulation of histiocytes (specific cells that normally play a role in responding to infection and injury) within multiple tissues and organs. As a result, these tissues and organs become thickened, dense and fibrotic. Sites of involvement may include the long bones, skin, tissues behind the eyeballs, lungs, brain, and pituitary gland, among others. Signs and symptoms, as well as disease course, depend on the specific location and extent of involvement. Without successful treatment, organ failure can occur.
Question: What causes Aquagenic pruritus ?

Answer: What causes aquagenic pruritus? The exact cause of aquagenic pruritus is unknown, but increased mast cell degranulation (release of granules rich in histamine and other compounds into the body by mast cells, a special type of cell that plays a role in the immune system), increased circulating histamine, release of acetylcholine (a chemical in the body which sends signals from nerves to muscles and between nerves in the brain), and increased skin fibrinolytic activity (activity that controls clot size by promoting the breakdown of clots) have all been named as possible causes of the condition. In some cases, it appears to be a symptom of polycythemia vera.
Question: What is (are) Von Willebrand disease ?

Answer: Von Willebrand disease is a bleeding disorder that slows the blood clotting process. People with this disease often experience bruising, nosebleeds, and prolonged bleeding or oozing following an injury, surgery, or having a tooth pulled. In severe cases, heavy bleeding occurs after minor injury or even in the absence of injury. Milder forms of Von Willebrand disease do not involve spontaneous bleeding, and the disease may become apparent only when abnormal bleeding occurs following surgery or a serious injury. Symptoms may change over time. Increased age, pregnancy, exercise, and stress may make bleeding symptoms may become less frequent. This disease is caused by mutations in the VWF gene and can have different inheritance patterns.
Question: What is (are) Fibrolamellar carcinoma ?

Answer: Fibrolamellar carcinoma (FLC) is a rare form of liver cancer which is generally diagnosed in adolescents and young adults (before age 40). Many people with early FLC have no signs or symptoms of the condition. When present, symptoms are often nonspecific (i.e. abdominal pain, weight loss, malaise) and blamed on other, more common conditions. The exact underlying cause of FLC is poorly understood. Unlike other forms of liver cancer, FLC typically occurs in the absence of underlying liver inflammation or scarring; thus, specific risk factors for this condition remain unidentified. FLC is typically treated with surgical resection.
Question: Who is at risk for Patent Ductus Arteriosus? ?

Answer: Patent ductus arteriosus (PDA) is a relatively common congenital heart defect in the United States.
                
The condition occurs more often in premature infants (on average, occurring in about 8 of every 1,000 births). However, PDA also occurs in full-term infants (on average, occurring in about 2 of every 1,000 births).
                
PDA also is more common in:
                
Infants who have genetic conditions such as Down syndrome
                
Infants whose mothers had German measles (rubella) during pregnancy
                
PDA is twice as common in girls as it is in boys.
Question: What are the treatments for Central Cord Syndrome ?

Answer: There is no cure for central cord syndrome although some people recover near-normal function. There is no standard course of treatment, although drug therapy, surgery, and rest are often part of the program. Magnetic resonance imaging (MRI) is used to indicate the degree of spinal cord compression and vertebral instability. Vertebral instability due to acute traumatic injury or cervical disc herniation is often treated by surgery to prevent further damage to the spinal cord. Recent reports indicate that earlier surgery may improve chances for recovery. Numerous recent studies suggest that surgery also can be beneficial in individuals with persistent compression of the spinal cord and ongoing neurological deterioration.
Question: What are the treatments for Perrault syndrome ?

Answer: These resources address the diagnosis or management of Perrault syndrome:  - Gene Review: Gene Review: Perrault Syndrome  - Genetic Testing Registry: Gonadal dysgenesis with auditory dysfunction, autosomal recessive inheritance  - Genetic Testing Registry: Perrault syndrome 2  - Genetic Testing Registry: Perrault syndrome 4  - Genetic Testing Registry: Perrault syndrome 5   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 microcephaly-capillary malformation syndrome inherited ?

Answer: This condition has an autosomal recessive pattern of inheritance, which means both copies of the STAMBP gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition.  At least one individual with microcephaly-capillary malformation syndrome inherited two mutated copies of the STAMBP gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent.
Question: Is mucopolysaccharidosis type II inherited ?

Answer: This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is 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.
Question: What are the genetic changes related to Gaucher disease ?

Answer: Mutations in the GBA gene cause Gaucher disease. The GBA gene provides instructions for making an enzyme called beta-glucocerebrosidase. This enzyme breaks down a fatty substance called glucocerebroside into a sugar (glucose) and a simpler fat molecule (ceramide). Mutations in the GBA gene greatly reduce or eliminate the activity of beta-glucocerebrosidase. Without enough of this enzyme, glucocerebroside and related substances can build up to toxic levels within cells. Tissues and organs are damaged by the abnormal accumulation and storage of these substances, causing the characteristic features of Gaucher disease.
Question: Is 15q13.3 microdeletion inherited ?

Answer: 15q13.3 microdeletion is inherited in an autosomal dominant pattern, which means one copy of the deleted region on chromosome 15 in each cell is sufficient to increase the risk of intellectual disability and other characteristic features.  In about 75 percent of cases, individuals with 15q13.3 microdeletion inherit the chromosomal change from a parent. In the remaining cases, 15q13.3 microdeletion occurs in people whose parents do not carry the chromosomal change. In these individuals, the deletion occurs most often as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development.
Question: What is (are) familial male-limited precocious puberty ?

Answer: Familial male-limited precocious puberty is a condition that causes early sexual development in males; females are not affected. Boys with this disorder begin exhibiting the signs of puberty in early childhood, between the ages of 2 and 5. Signs of male puberty include a deepening voice, acne, increased body hair, underarm odor, growth of the penis and testes, and spontaneous erections. Changes in behavior, such as increased aggression and early interest in sex, may also occur. Without treatment, affected boys grow quickly at first, but they stop growing earlier than usual. As a result, they tend to be shorter in adulthood compared with other members of their family.
Question: What are the treatments for X-linked intellectual disability, Siderius type ?

Answer: These resources address the diagnosis or management of X-linked intellectual disability, Siderius type:  - Cincinnati Children's Hospital: Cleft Lip / Cleft Palate Bottle Feeding  - Cleveland Clinic: Cleft Lip & Palate Surgery  - Genetic Testing Registry: Siderius X-linked mental retardation syndrome  - Nemours Children's Health System: Cleft Lip and Palate   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 renal hypouricemia inherited ?

Answer: This condition is typically inherited in an autosomal recessive pattern, which means both copies of the SLC22A12 or SLC2A9 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 usually do not show signs and symptoms of the condition.  Sometimes, individuals with one SLC2A9 gene mutation in each cell have reduced levels of uric acid. The levels usually are not as low as they are in people who have mutations in both copies of the gene, and they often do not cause any signs or symptoms. Rarely, people who carry one copy of the mutated gene will develop uric acid kidney stones.
Question: What is (are) Crohn's Disease ?

Answer: The GI tract is a series of hollow organs joined in a long, twisting tube from the mouth to the anusa 1-inch-long opening through which stool leaves the body. The body digests food using the movement of muscles in the GI tract, along with the release of hormones and enzymes. Organs that make up the GI tract are the mouth, esophagus, stomach, small intestine, large intestinewhich includes the appendix, cecum, colon, and rectumand anus. The last part of the GI tractcalled the lower GI tractconsists of the large intestine and anus. The intestines are sometimes called the bowel.
Question: What are the treatments for Diabetes, Heart Disease, and Stroke ?

Answer: Treatment for heart disease includes meal planning to ensure a heart-healthy diet and physical activity. In addition, you may need medications to treat heart damage or to lower your blood glucose, blood pressure, and cholesterol. If you are not already taking a low dose of aspirin every day, your doctor may suggest it. You also may need surgery or some other medical procedure.
                
For additional information about heart and blood vessel disease, high blood pressure, and high cholesterol, call the National Heart, Lung, and Blood Institute Health Information Center at 3015928573 or see  www.nhlbi.nih.gov on the Internet.
Question: How to diagnose What I need to know about My Child's Urinary Tract Infection ?

Answer: Talk with your childs health care provider after your childs UTI is gone. The health care provider may want to do more tests to check for VUR or a blockage in the urinary tract. Repeated infections in an abnormal urinary tract may cause kidney damage. The kinds of tests ordered will depend on the child and the type of infection. VUR and blockages in the urinary tract often go away as a child grows. In some cases, surgery may be needed to correct any defects in the urinary tract. More information about tests for VUR or a blockage in the urinary tract is provided in the NIDDK health topic, Urinary Tract Infections in Children.
Question: what research (or clinical trials) is being done for Age-related Macular Degeneration ?

Answer: The National Eye Institute scientists are - studying the possibility of transplanting healthy cells into a diseased retina   - evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease  - looking at certain anti-inflammatory treatments for the wet form of AMD. studying the possibility of transplanting healthy cells into a diseased retina evaluating families with a history of AMD to understand genetic and hereditary factors that may cause the disease looking at certain anti-inflammatory treatments for the wet form of AMD. This research should provide better ways to detect, treat, and prevent vision loss in people with AMD.
Question: What is (are) Colorectal Cancer ?

Answer: Various drugs are under study as possible treatments for colorectal cancer. A 2005 study found that patients who took the drug AvastinTM with their standard chemotherapy treatment had a longer progression-free survival than those who did not take Avastin, but the evidence is mixed on whether or not Avastin can extend life. (The generic name for Avastin is bevacizumab.) Scientists are also working on vaccine therapies and monoclonal antibodies that may improve how patients' immune systems respond to colorectal cancers. Monoclonal antibodies are a single type of antibody that researchers make in large amounts in a laboratory.
Question: What is the outlook for Childhood Soft Tissue Sarcoma ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:         - The part of the body where the tumor first formed.    - The size and grade of the tumor.    - The type of soft tissue sarcoma.    - How deep the tumor is under the skin.    - Whether the tumor has spread to other places in the body.    - The amount of tumor remaining after surgery to remove it.    - Whether radiation therapy was used to treat the tumor.    - The age and gender of the patient.    - Whether the cancer has just been diagnosed or has recurred (come back).
Question: What are the symptoms of Chronic Eosinophilic Leukemia ?

Answer: Signs and symptoms of chronic eosinophilic leukemia include fever and feeling very tired. Chronic eosinophilic leukemia may not cause early signs or symptoms. It may be found during a routine blood test. Signs and symptoms may be caused by chronic eosinophilic leukemia or by other conditions. Check with your doctor if you have any of the following:         -  Fever.    - Feeling very tired.    - Cough.    - Swelling under the skin around the eyes and lips, in the throat, or on the hands and feet.    - Muscle pain.    - Itching.    -  Diarrhea.
Question: What is (are) Amyloidosis ?

Answer: Amyloidosis occurs when abnormal proteins called amyloids build up and form deposits. The deposits can collect in organs such as the kidney and heart. This can cause the organs to become stiff and unable to work the way they should.     There are three main types of amyloidosis:       - Primary - with no known cause    - Secondary - caused by another disease, including some types of cancer    - Familial - passed down through genes       Symptoms can vary, depending upon which organs are affected. Treatment depends on the type of amyloidosis you have. The goal is to help with symptoms and limit the production of proteins. If another disease is the cause, it needs to be treated.
Question: What is (are) Coma ?

Answer: A coma is a deep state of unconsciousness. An individual in a coma is alive but unable to move or respond to his or her environment. Coma may occur as a complication of an underlying illness, or as a result of injuries, such as brain injury.    A coma rarely lasts more than 2 to 4 weeks. The outcome for coma depends on the cause, severity, and site of the damage. People may come out of a coma with physical, intellectual, and psychological problems. Some people may remain in a coma for years or even decades. For those people, the most common cause of death is infection, such as pneumonia.    NIH: National Institute of Neurological Disorders and Stroke
Question: What is (are) Bullying ?

Answer: Bullying is when a person or group repeatedly tries to harm someone who is weaker or who they think is weaker. Sometimes it involves direct attacks such as hitting, name calling, teasing or taunting. Sometimes it is indirect, such as spreading rumors or trying to make others reject someone.     Often people dismiss bullying among kids as a normal part of growing up. But bullying is harmful. It can lead children and teenagers to feel tense and afraid. It may lead them to avoid school. In severe cases, teens who are bullied may feel they need to take drastic measures or react violently. Others even consider suicide. For some, the effects of bullying last a lifetime.     Centers for Disease Control and Prevention
Question: What is (are) Home Care Services ?

Answer: Home care is care that allows a person with special needs stay in their home. It might be for people who are getting older, are chronically ill, recovering from surgery, or disabled. Home care services include       - Personal care, such as help with bathing, washing your hair, or getting dressed    - Homemaking, such as cleaning, yard work, and laundry    - Cooking or delivering meals    - Health care, such as having a home health aide come to your home       You can get almost any type of help you want in your home. Some types of care and community services are free or donated. Many other types you have to pay for. Sometimes government programs or your health insurance will help cover the cost of certain home care services.
Question: What is (are) Family History ?

Answer: Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, environment, and lifestyle. Looking at these factors can help you figure out whether you have a higher risk for certain health problems, such as heart disease, stroke, and cancer.    Having a family member with a disease raises your risk, but it does not mean that you will definitely get it. Knowing that you are at risk gives you a chance to reduce that risk by following a healthier lifestyle and getting tested as needed.     You can get started by talking to your relatives about their health. Draw a family tree and add the health information. Having copies of medical records and death certificates is also helpful.     Centers for Disease Control and Prevention