umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Immunoglobulin A deficiency 2 ?

Answer: What are the signs and symptoms of Immunoglobulin A deficiency 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunoglobulin A deficiency 2. 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) Abnormality of cells of the lymphoid lineage - Autoimmunity - IgA deficiency - Recurrent infection of the gastrointestinal tract - Recurrent sinopulmonary infections - 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 Dopamine beta hydroxylase deficiency ?

Answer: What are the signs and symptoms of Dopamine beta hydroxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Dopamine beta hydroxylase deficiency. 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 recessive inheritance - High palate - Neonatal hypoglycemia - Nocturia - Orthostatic hypotension - Ptosis - Retrograde ejaculation - Seizures - 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 Ankylosis of teeth ?

Answer: What are the signs and symptoms of Ankylosis of teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Ankylosis of teeth. 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) Reduced number of teeth 90% Abnormality of dental enamel 50% Clinodactyly of the 5th finger 7.5% Mandibular prognathia 7.5% Abnormality of the teeth - Autosomal dominant 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 are the symptoms of Athabaskan brainstem dysgenesis ?

Answer: What are the signs and symptoms of Athabaskan brainstem dysgenesis? The Human Phenotype Ontology provides the following list of signs and symptoms for Athabaskan brainstem dysgenesis. 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) Abnormality of brainstem morphology 100% Abnormality of eye movement 90% Abnormality of cerebral artery - Delayed gross motor development - Sensorineural hearing impairment - 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 treatments for Vernal keratoconjunctivitis ?

Answer: How might vernal keratoconjunctivitis be treated? Management of vernal keratoconjunctivitis (VKC) focuses on preventing allergic attacks as well as relieving the signs and symptoms of the condition. It is often recommended that affected individuals try to avoid the agent that causes the allergy (if possible); wear dark sunglasses in the daytime; avoid dust; and stay inside on hot afternoons. Eye drops that affect the amount of histamine released by immune system cells (called mast cell stabilizers) may be used at the beginning of the season or at the first sign of a "flare-up" to prevent severe symptoms; however, they are not considered effective at relieving symptoms. Topical eye drops are generally preferred as the first source of treatment. Cold compresses, artificial tears, ointments and/or topical antihistamines may help. Non-steroid anti-inflammatory drugs (NSAIDS) may relieve symptoms in moderate cases; topical steroids are typically only used for more severe cases because long-term use can cause glaucoma. A few prescription drugs may also be available for the treatment of VKC; these include cromolyn sodium, lodoxamide tromethamine and Levocabastine. Oral administration of montelukast, a drug usually prescribed for asthma, has also been shown to be an effective treatment of VKC. For more information about these drugs and their availability, individuals should speak with their health care providers.
Question: What are the symptoms of Familial juvenile hyperuricaemic nephropathy ?

Answer: What are the signs and symptoms of Familial juvenile hyperuricaemic nephropathy? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial juvenile hyperuricaemic nephropathy. 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 - Gout - Juvenile onset - Nephropathy - Progressive - Renal insufficiency - Tubular atrophy - 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 causes Arrhythmia ?

Answer: An arrhythmia can occur if the electrical signals that control the heartbeat are delayed or blocked. This can happen if the special nerve cells that produce electrical signals don't work properly. It also can happen if the electrical signals don't travel normally through the heart.
                
An arrhythmia also can occur if another part of the heart starts to produce electrical signals. This adds to the signals from the special nerve cells and disrupts the normal heartbeat.
                
Smoking, heavy alcohol use, use of some drugs (such as cocaine or amphetamines), use of some prescription or over-the-counter medicines, or too much caffeine or nicotine can lead to arrhythmias in some people.
                
Strong emotional stress or anger can make the heart work harder, raise blood pressure, and release stress hormones. Sometimes these reactions can lead to arrhythmias.
                
A heart attack or other condition that damages the heart's electrical system also can cause arrhythmias. Examples of such conditions include high blood pressure, coronary heart disease, heart failure, an overactive or underactive thyroid gland (too much or too little thyroid hormone produced), and rheumatic heart disease.
                
Congenital (kon-JEN-ih-tal) heart defects can cause some arrhythmias, such as Wolff-Parkinson-White syndrome. The term "congenital means the defect is present at birth.
                
Sometimes the cause of arrhythmias is unknown.
Question: What are the genetic changes related to Renpenning syndrome ?

Answer: Renpenning syndrome is caused by mutations in the PQBP1 gene. This gene provides instructions for making a protein called polyglutamine-binding protein 1. This protein attaches (binds) to stretches of multiple copies of a protein building block (amino acid) called glutamine in certain other proteins.  While the specific function of polyglutamine-binding protein 1 is not well understood, it is believed to play a role in processing and transporting RNA, a chemical cousin of DNA that serves as the genetic blueprint for the production of proteins.  In nerve cells (neurons) such as those in the brain, polyglutamine-binding protein 1 is found in structures called RNA granules. These granules allow the transport and storage of RNA within the cell. The RNA is held within the granules until the genetic information it carries is translated to produce proteins or until cellular signals or environmental factors trigger the RNA to be degraded. Through these mechanisms, polyglutamine-binding protein 1 is thought to help control the way genetic information is used (gene expression) in neurons. This control is important for normal brain development.  Most of the mutations in the PQBP1 gene that cause Renpenning syndrome result in an abnormally short polyglutamine-binding protein 1. The function of a shortened or otherwise abnormal protein is likely impaired and interferes with normal gene expression in neurons, resulting in abnormal development of the brain and the signs and symptoms of Renpenning syndrome.
Question: What are the treatments for osteopetrosis ?

Answer: These resources address the diagnosis or management of osteopetrosis:  - Gene Review: Gene Review: CLCN7-Related Osteopetrosis  - Genetic Testing Registry: Ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema  - Genetic Testing Registry: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5  - Genetic Testing Registry: Osteopetrosis and infantile neuroaxonal dystrophy  - Genetic Testing Registry: Osteopetrosis autosomal dominant type 2  - Genetic Testing Registry: Osteopetrosis autosomal recessive 1  - Genetic Testing Registry: Osteopetrosis autosomal recessive 2  - Genetic Testing Registry: Osteopetrosis autosomal recessive 4  - Genetic Testing Registry: Osteopetrosis autosomal recessive 6  - Genetic Testing Registry: Osteopetrosis autosomal recessive 7  - Genetic Testing Registry: Osteopetrosis with renal tubular acidosis   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What are the genetic changes related to hereditary sensory and autonomic neuropathy type IE ?

Answer: HSAN IE is caused by mutations in the DNMT1 gene. This gene provides instructions for making an enzyme called DNA (cytosine-5)-methyltransferase 1. This enzyme is involved in DNA methylation, which is the addition of methyl groups, consisting of one carbon atom and three hydrogen atoms, to DNA molecules. In particular, the enzyme helps add methyl groups to DNA building blocks (nucleotides) called cytosines.  DNA methylation is important in many cellular functions. These include determining whether the instructions in a particular segment of DNA are carried out or suppressed (gene silencing), regulating reactions involving proteins and fats (lipids), and controlling the processing of chemicals that relay signals in the nervous system (neurotransmitters). DNA (cytosine-5)-methyltransferase 1 is active in the adult nervous system. Although its specific function is not well understood, the enzyme may help regulate nerve cell (neuron) maturation and specialization (differentiation), the ability of neurons to migrate where needed and connect with each other, and neuron survival.  DNMT1 gene mutations that cause HSAN IE reduce or eliminate the enzyme's methylation function, resulting in abnormalities in the maintenance of the neurons that make up the nervous system. However, it is not known how the mutations cause the specific signs and symptoms of HSAN IE.
Question: What are the genetic changes related to Wilson disease ?

Answer: Wilson disease is caused by mutations in the ATP7B gene. This gene provides instructions for making a protein called copper-transporting ATPase 2, which plays a role in the transport of copper from the liver to other parts of the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. The copper-transporting ATPase 2 protein is particularly important for the elimination of excess copper from the body. Mutations in the ATP7B gene prevent the transport protein from functioning properly. With a shortage of functional protein, excess copper is not removed from the body. As a result, copper accumulates to toxic levels that can damage tissues and organs, particularly the liver and brain.  Research indicates that a normal variation in the PRNP gene may modify the course of Wilson disease. The PRNP gene provides instructions for making prion protein, which is active in the brain and other tissues and appears to be involved in transporting copper. Studies have focused on the effects of a PRNP gene variation that affects position 129 of the prion protein. At this position, people can have either the protein building block (amino acid) methionine or the amino acid valine. Among people who have mutations in the ATP7B gene, it appears that having methionine instead of valine at position 129 of the prion protein is associated with delayed onset of symptoms and an increased occurrence of neurological symptoms, particularly tremors. Larger studies are needed, however, before the effects of this PRNP gene variation on Wilson disease can be established.
Question: What is (are) hereditary hyperekplexia ?

Answer: Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises. Following the startle reaction, infants experience a brief period in which they are very rigid and unable to move. During these rigid periods, some infants stop breathing, which, if prolonged, can be fatal. This condition may explain some cases of sudden infant death syndrome (SIDS), which is a major cause of unexplained death in babies younger than 1 year. Infants with hereditary hyperekplexia have hypertonia at all times, except when they are sleeping.  Other signs and symptoms of hereditary hyperekplexia can include muscle twitches when falling asleep (hypnagogic myoclonus) and movements of the arms or legs while asleep. Some infants, when tapped on the nose, extend their head forward and have spasms of the limb and neck muscles. Rarely, infants with hereditary hyperekplexia experience recurrent seizures (epilepsy).  The signs and symptoms of hereditary hyperekplexia typically fade by age 1. However, older individuals with hereditary hyperekplexia may still startle easily and have periods of rigidity, which can cause them to fall down. Some individuals with this condition have a low tolerance for crowded places and loud noises. Some affected people have persistent limb movements during sleep. Affected individuals who have epilepsy have the disorder throughout their lives.
Question: What are the symptoms of What I need to know about Interstitial Cystitis/Painful Bladder Syndrome ?

Answer: Signs of bladder problems include
                
-  Urgency. The feeling that you need to go right now! Urgency is normal if you haven't been near a bathroom for a few hours or if you have been drinking a lot of fluids. But you may have a problem if you have strong urges before your bladder has had time to fill. All of a sudden, you feel a strong urge to go. At times, you may even have an accident because the urge strikes so quickly you don't have time to find a bathroom.    - Frequency. The feeling that you need to go much more often than anyone else. Doctors and nurses use the term void, which means to empty the bladder. Most people void between four and seven times a day. Drinking large amounts of fluid can cause more frequent voiding. Taking blood pressure medicines called diuretics, or water pills, can also cause more frequent voiding. If you void more than eight times a day, and you dont take diuretics or drink large amounts of fluid, it may be the sign of a problem.  - Pain. The feeling of more than discomfort when you need to go. Having a full bladder may be uncomfortable, but it should not be painful. You may have a problem if you feel burning or sharp pain in your bladder or urethrathe opening where urine leaves the body.
                
Some people may have pain without urgency or frequency. Others have urgency and frequency without pain.
Question: what research (or clinical trials) is being done for Vulvar Cancer ?

Answer: New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website.
                
                
                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the cancer research process. Clinical trials are done to find out if new cancer treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments for cancer are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way cancer will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
                
                
                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose cancer has not gotten better. There are also clinical trials that test new ways to stop cancer from recurring (coming back) or reduce the side effects of cancer treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.
Question: what research (or clinical trials) is being done for Childhood Vascular Tumors ?

Answer: New types of treatment are being tested in clinical trials.
                    Information about clinical trials is available from the NCI website.
                
                
                    Patients may want to think about taking part in a clinical trial.
                    For some patients, taking part in a clinical trial may be the best treatment choice. Clinical trials are part of the research process. Clinical trials are done to find out if new treatments are safe and effective or better than the standard treatment.   Many of today's standard treatments are based on earlier clinical trials. Patients who take part in a clinical trial may receive the standard treatment or be among the first to receive a new treatment.   Patients who take part in clinical trials also help improve the way disease will be treated in the future. Even when clinical trials do not lead to effective new treatments, they often answer important questions and help move research forward.
                
                
                    Patients can enter clinical trials before, during, or after starting their cancer treatment.
                    Some clinical trials only include patients who have not yet received treatment. Other trials test treatments for patients whose tumors have not gotten better. There are also clinical trials that test new ways to stop tumors from recurring (coming back) or reduce the side effects of treatment.   Clinical trials are taking place in many parts of the country. See the Treatment Options section that follows for links to current treatment clinical trials. These have been retrieved from NCI's listing of clinical trials.