umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Kleiner Holmes syndrome ?

Answer: What are the signs and symptoms of Kleiner Holmes syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kleiner Holmes 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) Sandal gap 90% Clinodactyly of the 5th finger 50% Autosomal recessive inheritance - Broad hallux - Hallux varus - Preaxial hand polydactyly - Syndactyly - 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 Pediatric ulcerative colitis ?

Answer: What are the signs and symptoms of Pediatric ulcerative colitis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pediatric ulcerative colitis. 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) Abdominal pain - Diarrhea - Growth delay - Heterogeneous - Intestinal obstruction - Multifactorial inheritance - Recurrent aphthous stomatitis - Ulcerative colitis - Weight loss - 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 the outlook for Oxygen Therapy ?

Answer: During an emergencysuch as a serious accident, possible heart attack, or other life-threatening eventyou might be started on oxygen therapy right away.
                
Otherwise, your doctor will decide whether you need oxygen therapy based on test results. An arterial blood gas test and a pulse oximetry test can measure the amount of oxygen in your blood.
                
For an arterial blood gas test, a small needle is inserted into an artery, usually in your wrist. A sample of blood is taken from the artery. The sample is then sent to a laboratory, where its oxygen level is measured.
                
For a pulse oximetry test, a small sensor is attached to your fingertip or toe. The sensor uses light to estimate how much oxygen is in your blood.
                
If the tests show that your blood oxygen level is low, your doctor may prescribe oxygen therapy. In the prescription, your doctor will include the number of liters of oxygen per minute that you need (oxygen flow rate). He or she also will include how often you need to use the oxygen (frequency of use).
                
Frequency of use includes when and for how long you should use the oxygen. Depending on your condition and blood oxygen level, you may need oxygen only at certain times, such as during sleep or while exercising.
                
If your doctor prescribes home oxygen therapy, he or she can help you find a home equipment provider. The provider will give you the equipment and other supplies you need.
Question: What is (are) Erb-Duchenne and Dejerine-Klumpke Palsies ?

Answer: The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Erb-Duchenne (Erb's) palsy refers to paralysis of the upper brachial plexus. Dejerine-Klumpke (Klumpke's) palsy refers to paralysis of the lower brachial plexus. Although injuries can occur at any time, many brachial plexus injuries happen when a baby's shoulders become impacted during delivery and the brachial plexus nerves stretch or tear. There are four types of brachial plexus injuries: avulsion, the most severe type, in which the nerve is torn from the spine; rupture, in which the nerve is torn but not at the spinal attachment; neuroma, in which the nerve has torn and healed but scar tissue puts pressure on the injured nerve and prevents it from conducting signals to the muscles; and neuropraxia or stretch, in which the nerve has been damaged but not torn. Neuropraxia is the most common type of brachial plexus injury. Symptoms of brachial plexus injury may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and lack of feeling or sensation in the arm or hand.
Question: what research (or clinical trials) is being done for Syringomyelia ?

Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. NINDS investigators are studying how syrinxes first form, as well as the mechanisms of the disorders. NINDS investigators have found that the normal flow of cerebrospinal fluid that occurs with each heartbeat is obstructed in people with syringomyelia. Surgical procedures that relieve this obstruction usually result in the syrinx becoming much smaller in size. Studies are also underway to identify and better understand genetic factors that influence the development of Chiari I malformations and syringomyelia. Researchers hope to better understand the role of birth defects of the skull and brain in the development of hindbrain malformations that can lead to syringomyelia. Diagnostic technology is another area for continued research. 
                
NINDS scientists are examining individuals who either have syringomyelia or are at risk of developing the disorder. They are investigating the factors that influence its development, progression, and treatment by recording more than 5 years of symptoms, muscle strength, overall function, and magnetic resonance imaging (MRI) scan findings from individuals who receive standard treatment for syringomyelia. Study results may allow scientists to provide more accurate recommendations to future individuals with syringomyelia regarding optimal surgical or non-surgical treatments.
Question: What is (are) inherited thyroxine-binding globulin deficiency ?

Answer: Inherited thyroxine-binding globulin deficiency is a genetic condition that typically does not cause any health problems.  Thyroxine-binding globulin is a protein that carries hormones made or used by the thyroid gland, which is a butterfly-shaped tissue in the lower neck. Thyroid hormones play an important role in regulating growth, brain development, and the rate of chemical reactions in the body (metabolism). Most of the time, these hormones circulate in the bloodstream attached to thyroxine-binding globulin and similar proteins. If there is a shortage (deficiency) of thyroxine-binding globulin, the amount of circulating thyroid hormones is reduced.  Researchers have identified two forms of inherited thyroxine-binding globulin deficiency: the complete form (TBG-CD), which results in a total loss of thyroxine-binding globulin, and the partial form (TBG-PD), which reduces the amount of this protein or alters its structure. Neither of these conditions causes any problems with thyroid function. They are usually identified during routine blood tests that measure thyroid hormones.  Although inherited thyroxine-binding globulin deficiency does not cause any health problems, it can be mistaken for more serious thyroid disorders (such as hypothyroidism). Therefore, it is important to diagnose inherited thyroxine-binding globulin deficiency to avoid unnecessary treatments.
Question: What are the genetic changes related to polycythemia vera ?

Answer: Mutations in the JAK2 and TET2 genes are associated with polycythemia vera. Although it remains unclear exactly what initiates polycythemia vera, researchers believe that it begins when mutations occur in the DNA of a hematopoietic stem cell. These stem cells are located in the bone marrow and have the potential to develop into red blood cells, white blood cells, and platelets. JAK2 gene mutations seem to be particularly important for the development of polycythemia vera, as nearly all affected individuals have a mutation in this gene. The JAK2 gene provides instructions for making a protein that promotes the growth and division (proliferation) of cells. The JAK2 protein is especially important for controlling the production of blood cells from hematopoietic stem cells.  JAK2 gene mutations result in the production of a JAK2 protein that is constantly turned on (constitutively activated), which increases production of blood cells and prolongs their survival. With so many extra cells in the bloodstream, abnormal blood clots are more likely to form. Thicker blood also flows more slowly throughout the body, which prevents organs from receiving enough oxygen. Many of the signs and symptoms of polycythemia vera are related to a shortage of oxygen in body tissues.  The function of the TET2 gene is unknown. Although mutations in the TET2 gene have been found in approximately 16 percent of people with polycythemia vera, it is unclear what role these mutations play in the development of the condition.
Question: What is (are) Costeff syndrome ?

Answer: Costeff syndrome is a condition characterized by vision loss, movement problems, and intellectual disability. People with Costeff syndrome have degeneration (atrophy) of the optic nerves, which carry information from the eyes to the brain. This optic nerve atrophy often begins in infancy or early childhood and results in vision loss that worsens over time. Some affected individuals have rapid and involuntary eye movements (nystagmus) or eyes that do not look in the same direction (strabismus).  Movement problems in people with Costeff syndrome develop in late childhood and include muscle stiffness (spasticity), impaired muscle coordination (ataxia), and involuntary jerking movements (choreiform movements). As a result of these movement difficulties, individuals with Costeff syndrome may require wheelchair assistance.  While some people with Costeff syndrome have intellectual disability that ranges from mild to moderate, many people with this condition have normal intelligence.  Costeff syndrome is associated with increased levels of a substance called 3-methylglutaconic acid in the urine. The amount of the acid does not appear to influence the signs and symptoms of the condition. Costeff syndrome is one of a group of metabolic disorders that can be diagnosed by the presence of increased levels of 3-methylglutaconic acid in urine (3-methylglutaconic aciduria). People with Costeff syndrome also have high urine levels of another acid called 3-methylglutaric acid.
Question: What are the genetic changes related to dopamine transporter deficiency syndrome ?

Answer: Dopamine transporter deficiency syndrome is caused by mutations in the SLC6A3 gene. This gene provides instructions for making a protein called the dopamine transporter. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. Dopamine is a chemical messenger (neurotransmitter) that relays signals from one neuron to another. Dopamine has many important functions, including playing complex roles in thought (cognition), motivation, behavior, and control of movement.  Mutations in the SLC6A3 gene impair or eliminate the function of the dopamine transporter. The resulting shortage (deficiency) of functional transporter disrupts dopamine signaling in the brain. Although dopamine has a critical role in controlling movement, it is unclear how altered dopamine signaling causes the specific movement abnormalities found in people with dopamine transporter deficiency syndrome.  Studies suggest that the age at which signs and symptoms appear is related to how severely the function of the dopamine transporter is affected. Affected individuals who develop movement problems starting in infancy most often have transporter activity that is less than 5 percent of normal. Those whose movement problems appear in childhood or later tend to have somewhat higher levels of transporter activity, although they are still lower than normal. Researchers speculate that higher levels of transporter activity may delay the onset of the disease in these individuals.
Question: What are the genetic changes related to hyperferritinemia-cataract syndrome ?

Answer: Hyperferritinemia-cataract syndrome is caused by mutations in the FTL gene. This gene provides instructions for making the ferritin light chain, which is one part (subunit) of the protein ferritin. Ferritin is made up of 24 subunits formed into a hollow spherical molecule. The 24 subunits consist of varying numbers of the ferritin light chain and another subunit called the ferritin heavy chain, which is produced from another gene. The proportion of the two subunits varies in different tissues.  Ferritin stores and releases iron in cells. Each ferritin molecule can hold as many as 4,500 iron atoms inside its spherical structure. This storage capacity allows ferritin to regulate the amount of iron in cells and tissues.  The mutations that cause hyperferritinemia-cataract syndrome are found in a segment of the gene called the iron responsive element (IRE). The IRE normally can attach (bind) to a protein called the iron regulatory protein (IRP). When this binding occurs, the activity (expression) of the FTL gene is stopped to prevent too much ferritin light chain from being produced. This normally occurs when iron levels are low, because under those circumstances less ferritin is needed to store the iron. Mutations in the IRE segment of the FTL gene prevent it from binding with IRP, interfering with the mechanism by which ferritin production is matched to iron levels and resulting in excess ferritin being formed.
Question: What are the genetic changes related to hereditary sensory neuropathy type IA ?

Answer: Mutations in the SPTLC1 gene cause hereditary sensory neuropathy type IA. The SPTLC1 gene provides instructions for making one part (subunit) of an enzyme called serine palmitoyltransferase (SPT). The SPT enzyme is involved in making certain fats called sphingolipids. Sphingolipids are important components of cell membranes and play a role in many cell functions.  SPTLC1 gene mutations reduce the amount of functional SPTLC1 subunit that is produced, which results in an SPT enzyme with altered activity. This altered enzyme makes molecules called deoxysphingoid bases, which it does not normally produce. Because of this new function, the SPT enzyme's production of sphingolipid is reduced. Overall, there does not seem to be a decrease in sphingolipid production because the body is able to compensate for the SPT enzyme's reduced production. When accumulated, deoxysphingoid bases are toxic to neurons. The gradual destruction of nerve cells caused by the buildup of these toxic molecules results in loss of sensation and muscle weakness in people with hereditary sensory neuropathy type IA. Although the SPT enzyme does not produce a normal amount of sphingolipids, the body is able to compensate, and there does not seem to be an overall reduction of these fats in the body.
Question: What is (are) Endocarditis ?

Answer: Endocarditis, also called infective endocarditis (IE), is an inflammation of the inner lining of the heart. The most common type, bacterial endocarditis, occurs when germs enter your heart. These germs come through your bloodstream from another part of your body, often your mouth. Bacterial endocarditis can damage your heart valves. If untreated, it can be life-threatening. It is rare in healthy hearts.     Risk factors include having       - An abnormal or damaged heart valve     - An artificial heart valve     - Congenital heart defects       The signs and symptoms of IE can vary from person to person. They also can vary over time in the same person. Symptoms you might notice include fever, shortness of breath, fluid buildup in your arms or legs, tiny red spots on your skin, and weight loss. Your doctor will diagnose IE based on your risk factors, medical history, signs and symptoms, and lab and heart tests.    Early treatment can help you avoid complications. Treatment usually involves high-dose antibiotics. If your heart valve is damaged, you may need surgery.    If you're at risk for IE, brush and floss your teeth regularly, and have regular dental checkups. Germs from a gum infection can enter your bloodstream. If you are at high risk, your doctor might prescribe antibiotics before dental work and certain types of surgery.    NIH: National Heart, Lung, and Blood Institute
Question: What are the treatments for Collagenous colitis ?

Answer: How might collagenous colitis be treated? Treatment for collagenous colitis varies depending on the symptoms and severity in each affected individual. In some cases the condition may resolve on its own (spontaneous remission), although most people continue to have ongoing or occasional diarrhea. Dietary changes are usually tried first to alleviate symptoms. These changes may include a reduced-fat diet, eliminating foods that contain caffeine and lactose, and avoiding over-the-counter pain relievers such as ibuprofen or aspirin. If these changes alone are not enough, medications can be used to help control symptoms. However, the response rate to various types of medication reportedly varies. Prescription anti-inflammatory medications such as mesalamine and sulfasalazine may help reduce swelling. Steroids including budesonide and prednisone can be used reduce inflammation, but they are usually only used to control sudden attacks of diarrhea. Long-term use of steroids is typically avoided because of unwanted side effects. Anti-diarrheal medications such as bismuth subsalicylate, diphenoxylate with atropine, and loperamide can offer short-term relief. Immunosuppressive agents such as azathioprine help to reduce inflammation but are rarely needed. In extreme cases where the condition does not respond to medications, surgery to remove all or part of the colon may be necessary. However, surgery is rarely recommended.
Question: What are the symptoms of Birdshot chorioretinopathy ?

Answer: What are the signs and symptoms of Birdshot chorioretinopathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Birdshot chorioretinopathy. 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) Autosomal dominant inheritance - Chorioretinal abnormality - Posterior uveitis - Retinal pigment epithelial atrophy - Visual impairment - Vitritis - 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 Robinow Sorauf syndrome ?

Answer: What are the signs and symptoms of Robinow Sorauf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Robinow Sorauf 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) Autosomal dominant inheritance - Broad hallux - Duplication of phalanx of hallux - Hypertelorism - Long nose - Malar flattening - Narrow nose - Plagiocephaly - Shallow orbits - Strabismus - 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.