umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Klippel Feil syndrome ?

Answer: How might Klippel-Feil syndrome be treated? There is no cure for Klippel Feil syndrome (KFS); treatment is generally symptomatic and supportive. Management depends on the features and severity in each person, and can be life-long. Careful evaluation, consistent follow-up, and coordination with various specialists are needed to improve outcome and make sure that no related diagnosis is missed. There are various conservative therapies available, including the use of cervical collars, braces, traction, physical therapy, non-steroidal anti-inflammatory drugs (NSAIDs), and various pain medications. However, for many people with KFS, symptoms are progressive due to degenerative changes that occur in the spine. Surgery may be indicated for a variety of reasons, including persistent pain; neurologic deficits; cervical or craniocervical instability; constriction of the spinal cord; or to correct severe scoliosis. Some people with KFS may need surgery to repair other skeletal abnormalities, or those related to the heart, kidneys, ears, eyes, or other parts of the body. Those at an increased risk for neurological complications should be regularly monitored by their health care providers and may be advised to avoid activities that could lead to trauma or injury to cervical vertebrae.
Question: What are the genetic changes related to 8p11 myeloproliferative syndrome ?

Answer: 8p11 myeloproliferative syndrome is caused by rearrangements of genetic material (translocations) between two chromosomes. All of the translocations that cause this condition involve the FGFR1 gene, which is found on the short (p) arm of chromosome 8 at a position described as p11. The translocations lead to fusion of part of the FGFR1 gene with part of another gene; the most common partner gene is ZMYM2 on chromosome 13. These genetic changes are found only in cancer cells.  The protein normally produced from the FGFR1 gene can trigger a cascade of chemical reactions that instruct the cell to undergo certain changes, such as growing and dividing. This signaling is turned on when the FGFR1 protein interacts with growth factors. In contrast, when the FGFR1 gene is fused with another gene, FGFR1 signaling is turned on without the need for stimulation by growth factors. The uncontrolled signaling promotes continuous cell growth and division, leading to cancer.  Researchers believe the mutations that cause this condition occur in a very early blood cell called a stem cell that has the ability to mature into either a myeloid cell or a lymphoid cell. For this reason, this condition is sometimes referred to as stem cell leukemia/lymphoma.
Question: What are the genetic changes related to X-linked thrombocytopenia ?

Answer: Mutations in the WAS gene cause X-linked thrombocytopenia. The WAS gene provides instructions for making a protein called WASP. This protein is found in all blood cells. WASP is involved in relaying signals from the surface of blood cells to the actin cytoskeleton, which is a network of fibers that make up the cell's structural framework. WASP signaling activates the cell when it is needed and triggers its movement and attachment to other cells and tissues (adhesion). In white blood cells, which protect the body from infection, this signaling allows the actin cytoskeleton to establish the interaction between cells and the foreign invaders that they target (immune synapse).  WAS gene mutations that cause X-linked thrombocytopenia typically lead to the production of an altered protein. The altered WASP has reduced function and cannot efficiently relay signals from the cell membrane to the actin cytoskeleton. In people with X-linked thrombocytopenia, these signaling problems primarily affect platelets, impairing their development. In some cases, white blood cells are affected. When WASP function is impaired in white blood cells, they are less able to respond to foreign invaders and immune problems such as infections, eczema, and autoimmune disorders can occur.
Question: What are the genetic changes related to Pearson marrow-pancreas syndrome ?

Answer: Pearson marrow-pancreas syndrome is caused by defects in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. This process is called oxidative phosphorylation. Although most DNA is packaged in chromosomes within the nucleus (nuclear DNA), mitochondria also have a small amount of their own DNA, called mitochondrial DNA (mtDNA). This type of DNA contains many genes essential for normal mitochondrial function. Pearson marrow-pancreas syndrome is caused by single, large deletions of mtDNA, which can range from 1,000 to 10,000 DNA building blocks (nucleotides). The most common deletion, which occurs in about 20 percent of affected individuals, removes 4,997 nucleotides.  The mtDNA deletions involved in Pearson marrow-pancreas syndrome result in the loss of genes that provide instructions for proteins involved in oxidative phosphorylation. These deletions impair oxidative phosphorylation and decrease the energy available to cells. It is not clear how loss of mtDNA leads to the specific signs and symptoms of Pearson marrow-pancreas syndrome, although the features of the condition are likely related to a lack of cellular energy.
Question: What is (are) multiple mitochondrial dysfunctions syndrome ?

Answer: Multiple mitochondrial dysfunctions syndrome is characterized by impairment of cellular structures called mitochondria, which are the energy-producing centers of cells. While certain mitochondrial disorders are caused by impairment of a single stage of energy production, individuals with multiple mitochondrial dysfunctions syndrome have reduced function of more than one stage. The signs and symptoms of this severe condition begin early in life, and affected individuals usually do not live past infancy.  Affected infants typically have severe brain dysfunction (encephalopathy), which can contribute to weak muscle tone (hypotonia), seizures, and delayed development of mental and movement abilities (psychomotor delay). These infants often have difficulty growing and gaining weight at the expected rate (failure to thrive). Most affected babies have a buildup of a chemical called lactic acid in the body (lactic acidosis), which can be life-threatening. They may also have high levels of a molecule called glycine (hyperglycinemia) or elevated levels of sugar (hyperglycemia) in the blood. Some babies with multiple mitochondrial dysfunctions syndrome have high blood pressure in the blood vessels that connect to the lungs (pulmonary hypertension) or weakening of the heart muscle (cardiomyopathy).
Question: What are the genetic changes related to Moebius syndrome ?

Answer: The causes of Moebius syndrome are unknown, although the condition probably results from a combination of environmental and genetic factors. Researchers are working to identify and describe specific genes related to this condition. The disorder appears to be associated with changes in particular regions of chromosomes 3, 10, or 13 in some families. Certain medications taken during pregnancy and abuse of drugs such as cocaine may also be risk factors for Moebius syndrome.  Many of the signs and symptoms of Moebius syndrome result from the absence or underdevelopment of cranial nerves VI and VII. These nerves, which emerge from the brainstem at the back of the brain, control back-and-forth eye movement and facial expressions. The disorder can also affect other cranial nerves that are important for speech, chewing, and swallowing. Abnormal development of cranial nerves leads to the facial muscle weakness or paralysis that is characteristic of Moebius syndrome.  Researchers speculate that Moebius syndrome may result from changes in blood flow to the brainstem during early stages of embryonic development. However, it is unclear what causes these changes to occur and why they specifically disrupt the development of cranial nerves VI and VII. Even less is known about the causes of some other signs and symptoms of this condition, including hand and foot abnormalities.
Question: What is (are) pyruvate dehydrogenase deficiency ?

Answer: Pyruvate dehydrogenase deficiency is characterized by the buildup of a chemical called lactic acid in the body and a variety of neurological problems. Signs and symptoms of this condition usually first appear shortly after birth, and they can vary widely among affected individuals. The most common feature is a potentially life-threatening buildup of lactic acid (lactic acidosis), which can cause nausea, vomiting, severe breathing problems, and an abnormal heartbeat. People with pyruvate dehydrogenase deficiency usually have neurological problems as well. Most have delayed development of mental abilities and motor skills such as sitting and walking. Other neurological problems can include intellectual disability, seizures, weak muscle tone (hypotonia), poor coordination, and difficulty walking. Some affected individuals have abnormal brain structures, such as underdevelopment of the tissue connecting the left and right halves of the brain (corpus callosum), wasting away (atrophy) of the exterior part of the brain known as the cerebral cortex, or patches of damaged tissue (lesions) on some parts of the brain. Because of the severe health effects, many individuals with pyruvate dehydrogenase deficiency do not survive past childhood, although some may live into adolescence or adulthood.
Question: What are the genetic changes related to myopathy with deficiency of iron-sulfur cluster assembly enzyme ?

Answer: Myopathy with deficiency of iron-sulfur cluster assembly enzyme is caused by mutations in the ISCU gene. This gene provides instructions for making a protein called the iron-sulfur cluster assembly enzyme. As its name suggests, this enzyme is involved in the formation of clusters of iron and sulfur atoms (Fe-S clusters). These clusters are critical for the function of many different proteins, including those needed for DNA repair and the regulation of iron levels. Proteins containing Fe-S clusters are also necessary for energy production within mitochondria, which are the cell structures that convert the energy from food into a form that cells can use.  Mutations in the ISCU gene severely limit the amount of iron-sulfur cluster assembly enzyme that is made in cells. A shortage of this enzyme prevents the normal production of proteins that contain Fe-S clusters, which disrupts a variety of cellular activities. A reduction in the amount of iron-sulfur cluster assembly enzyme is particularly damaging to skeletal muscle cells. Within the mitochondria of these cells, a lack of this enzyme causes problems with energy production and an overload of iron. These defects lead to exercise intolerance and the other features of myopathy with deficiency of iron-sulfur cluster assembly enzyme.
Question: What is (are) severe congenital neutropenia ?

Answer: Severe congenital neutropenia is a condition that causes affected individuals to be prone to recurrent infections. People with this condition have a shortage (deficiency) of neutrophils, a type of white blood cell that plays a role in inflammation and in fighting infection. The deficiency of neutrophils, called neutropenia, is apparent at birth or soon afterward. It leads to recurrent infections beginning in infancy, including infections of the sinuses, lungs, and liver. Affected individuals can also develop fevers and inflammation of the gums (gingivitis) and skin. Approximately 40 percent of affected people have decreased bone density (osteopenia) and may develop osteoporosis, a condition that makes bones progressively more brittle and prone to fracture. In people with severe congenital neutropenia, these bone disorders can begin at any time from infancy through adulthood.  Approximately 20 percent of people with severe congenital neutropenia develop cancer of the blood-forming tissue (leukemia) or a disease of the blood and bone marrow (myelodysplastic syndrome) during adolescence.  Some people with severe congenital neutropenia have additional health problems such as seizures, developmental delay, or heart and genital abnormalities.
Question: What to do for Ulcerative Colitis ?

Answer: - Ulcerative colitis is a chronic, or long lasting, disease that causes inflammationirritation or swellingand sores called ulcers on the inner lining of the large intestine.  - The exact cause of ulcerative colitis is unknown. Researchers believe that factors such as an overactive intestinal immune system, genes, and environment may play a role in causing ulcerative colitis.  - Ulcerative colitis can occur in people of any age. However, it is more likely to develop in people      - between the ages of 15 and 30    - older than 60    - who have a family member with inflammatory bowel disease (IBD)    - of Jewish descent    - The most common signs and symptoms of ulcerative colitis are diarrhea with blood or pus and abdominal discomfort.  - A health care provider diagnoses ulcerative colitis with the following:      - medical and family history    - physical exam    - lab tests    - endoscopies of the large intestine    - Which treatment a person needs depends on the severity of the disease and symptoms.  - Good nutrition is important in the management of ulcerative colitis. A health care provider may recommend that a person make dietary changes.  - People with ulcerative colitis should talk with their health care provider about how often they should get screened for colon cancer.
Question: What is (are) Arthritis ?

Answer: If you feel pain and stiffness in your body or have trouble moving around, you might have arthritis. Most kinds of arthritis cause pain and swelling in your joints. Joints are places where two bones meet, such as your elbow or knee. Over time, a swollen joint can become severely damaged. Some kinds of arthritis can also cause problems in your organs, such as your eyes or skin.    Types of arthritis include       - Osteoarthritis is the most common type of arthritis. It's often related to aging or to an injury.    - Autoimmune arthritis happens when your body's immune system attacks healthy cells in your body by mistake. Rheumatoid arthritis is the most common form of this kind of arthritis.    - Juvenile arthritis is a type of arthritis that happens in children.    - Infectious arthritis is an infection that has spread from another part of the body to the joint.    - Psoriatic arthritis affects people with psoriasis.    - Gout is a painful type of arthritis that happens when too much uric acid builds up in the body. It often starts in the big toe.       NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Self-harm ?

Answer: Self-harm refers to a person's harming their own body on purpose. About 1 in 100 people hurts himself or herself in this way. More females hurt themselves than males. A person who self-harms usually does not mean to kill himself or herself. But they are at higher risk of attempting suicide if they do not get help.    Self-harm tends to begin in teen or early adult years. Some people may engage in self-harm a few times and then stop. Others engage in it more often and have trouble stopping.    Examples of self-harm include       - Cutting yourself (such as using a razor blade, knife, or other sharp object to cut the skin)    - Punching yourself or punching things (like a wall)    - Burning yourself with cigarettes, matches, or candles    - Pulling out your hair    - Poking objects through body openings    - Breaking your bones or bruising yourself       Many people cut themselves because it gives them a sense of relief. Some people use cutting as a means to cope with a problem. Some teens say that when they hurt themselves, they are trying to stop feeling lonely, angry, or hopeless.    It is possible to overcome the urge to hurt yourself. There are other ways to find relief and cope with your emotions. Counseling may help.    Dept. of Health and Human Services, Office on Women's Health
Question: What is (are) Drug Reactions ?

Answer: Most of the time, medicines make our lives better. They reduce aches and pains, fight infections, and control problems such as high blood pressure or diabetes. But medicines can also cause unwanted reactions.    One problem is interactions, which may occur between       - Two drugs, such as aspirin and blood thinners    - Drugs and food, such as statins and grapefruit    - Drugs and supplements, such as gingko and blood thinners    - Drugs and diseases, such as aspirin and peptic ulcers       Interactions can change the actions of one or both drugs. The drugs might not work, or you could get side effects.    Side effects are unwanted effects caused by the drugs. Most are mild, such as a stomach aches or drowsiness, and go away after you stop taking the drug. Others can be more serious.    Drug allergies are another type of reaction. They can be mild or life-threatening. Skin reactions, such as hives and rashes, are the most common type. Anaphylaxis, a serious allergic reaction, is more rare.    When you start a new prescription or over-the-counter medication, make sure you understand how to take it correctly. Know which other medications and foods you need to avoid. Ask your health care provider or pharmacist if you have questions.
Question: What are the treatments for 47 XXX syndrome ?

Answer: How might 47 XXX syndrome be treated? There is no cure for 47 XXX syndrome, and there is no way to remove the extra X chromosome that is present in an affected individual's cells. Management of the condition varies and depends on several factors including the age at diagnosis, the specific symptoms that are present, and the overall severity of the disorder in the affected individual. Early intervention services are typically recommended for infants and children that are diagnosed with the condition. Specific recommendations include developmental assessment by 4 months of age to evaluate muscle tone and strength; language and speech assessment by 12 months of age; pre-reading assessment during preschool years; and an assessment of additional learning disabilities as well as social and emotional problems. Evidence suggests that children with 47 XXX syndrome are very responsive to early intervention services and treatment. Some services that affected children may take part in include speech therapy, occupational therapy, physical therapy, and developmental therapy and counseling. It is also recommended that infants and children with 47 XXX syndrome receive kidney and heart evaluations to detect possible abnormalities. Adolescent and adult women who have late periods, menstrual abnormalities, or fertility issues should be evaluated for primary ovarian failure (POF). Additional treatment for this disorder depends on the specific signs and symptoms present in the affected individual.
Question: What are the symptoms of Achard syndrome ?

Answer: What are the signs and symptoms of Achard syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Achard syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Arachnodactyly - Autosomal dominant inheritance - Brachycephaly - Broad skull - Joint laxity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Cleft palate X-linked ?

Answer: What are the signs and symptoms of Cleft palate X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Cleft palate X-linked. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Bifid uvula - Cleft palate - X-linked inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Intestinal pseudoobstruction neuronal chronic idiopathic X-linked ?

Answer: Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms.