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

Answer: Most people who have narcolepsy have low levels of hypocretin. This is a chemical in the brain that helps promote wakefulness. What causes low hypocretin levels isn't well understood.
                
Researchers think that certain factors may work together to cause a lack of hypocretin. These factors may include:
                
Heredity. Some people may inherit a gene that affects hypocretin. Up to 10 percent of people who have narcolepsy report having a relative who has the same symptoms.
                
Infections.
                
Brain injuries caused by conditions such as brain tumors, strokes, or trauma (for example, car accidents or military-related wounds).
                
Autoimmune disorders. With these disorders, the body's immune system mistakenly attacks the body's cells and tissues. An example of an autoimmune disorder is rheumatoid arthritis.
                
Low levels of histamine, a substance in the blood that promotes wakefulness.
                
Some research suggests that environmental toxins may play a role in triggering narcolepsy. Toxins may include heavy metals, pesticides and weed killers, and secondhand smoke.
                
Heredity alone doesn't cause narcolepsy. You also must have at least one other factor, such as one of those listed above, to develop narcolepsy.
Question: Who is at risk for Aneurysm? ?

Answer: Certain factors put you at higher risk for an aortic aneurysm. These factors include:
                
Male gender. Men are more likely than women to have aortic aneurysms.
                
Age. The risk for abdominal aortic aneurysms increases as you get older. These aneurysms are more likely to occur in people who are aged 65 or older.
                
Smoking. Smoking can damage and weaken the walls of the aorta.
                
A family history of aortic aneurysms. People who have family histories of aortic aneurysms are at higher risk for the condition, and they may have aneurysms before the age of 65.
                
A history of aneurysms in the arteries of the legs.
                
Certain diseases and conditions that weaken the walls of the aorta. Examples include high blood pressure and atherosclerosis.
                
Having a bicuspid aortic valve can raise the risk of having a thoracic aortic aneurysm. A bicuspid aortic valve has two leaflets instead of the typical three.
                
Car accidents or trauma also can injure the arteries and increase the risk for aneurysms.
                
If you have any of these risk factors, talk with your doctor about whether you need screening for aneurysms.
Question: What is (are) Mitochondrial Myopathy ?

Answer: Mitochondrial myopathies are a group of neuromuscular diseases caused by damage to the mitochondriasmall, energy-producing structures that serve as the cells' "power plants." Nerve cells in the brain and muscles require a great deal of energy, and thus appear to be particularly damaged when mitochondrial dysfunction occurs. Some of the more common mitochondrial myopathies include Kearns-Sayre syndrome, myoclonus epilepsy with ragged-red fibers, and mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes. The symptoms of mitochondrial myopathies include muscle weakness or exercise intolerance, heart failure or rhythm disturbances, dementia, movement disorders, stroke-like episodes, deafness, blindness, droopy eyelids, limited mobility of the eyes, vomiting, and seizures. The prognosis for these disorders ranges in severity from progressive weakness to death. Most mitochondrial myopathies occur before the age of 20, and often begin with exercise intolerance or muscle weakness. During physical activity, muscles may become easily fatigued or weak. Muscle cramping is rare, but may occur. Nausea, headache, and breathlessness are also associated with these disorders.
Question: What are the genetic changes related to Coats plus syndrome ?

Answer: Coats plus syndrome results from mutations in the CTC1 gene. This gene provides instructions for making a protein that plays an important role in structures known as telomeres, which are found at the ends of chromosomes. Telomeres are short, repetitive segments of DNA that help protect chromosomes from abnormally sticking together or breaking down (degrading). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis). The CTC1 protein works as part of a group of proteins known as the CST complex, which is involved in the copying (replication) of telomeres. The CST complex helps prevent telomeres from being degraded in some cells as the cells divide.  Mutations in the CTC1 gene impair the function of the CST complex, which affects the replication of telomeres. However, it is unclear how CTC1 gene mutations impact telomere structure and function. Some studies have found that people with CTC1 gene mutations have abnormally short telomeres, while other studies have found no change in telomere length. Researchers are working to determine how telomeres are different in people with CTC1 gene mutations and how these changes could underlie the varied signs and symptoms of Coats plus syndrome.
Question: What are the genetic changes related to familial porencephaly ?

Answer: Mutations in the COL4A1 gene cause familial porencephaly. The COL4A1 gene provides instructions for making one component of a protein called type IV collagen. Type IV collagen molecules attach to each other to form complex protein networks. These protein networks are the main components of basement membranes, which are thin sheet-like structures that separate and support cells in many tissues. Type IV collagen networks play an important role in the basement membranes in virtually all tissues throughout the body, particularly the basement membranes surrounding the body's blood vessels (vasculature).  The COL4A1 gene mutations that cause familial porencephaly result in the production of a protein that disrupts the structure of type IV collagen. As a result, type IV collagen molecules cannot attach to each other to form the protein networks in basement membranes. Basement membranes without normal type IV collagen are unstable, leading to weakening of the tissues that they surround. In people with familial porencephaly, the vasculature in the brain weakens, which can lead to blood vessel breakage and hemorrhagic stroke. Bleeding within the brain is followed by the formation of fluid-filled cysts characteristic of this condition. It is thought that the pressure and stress on the head during birth contributes to vessel breakage in people with this condition; however in some individuals, bleeding in the brain can occur before birth.
Question: What causes Primary Biliary Cirrhosis ?

Answer: The causes of primary biliary cirrhosis are unknown. Most research suggests it is an autoimmune disease. The immune system protects people from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. An autoimmune disease is a disorder in which the bodys immune system attacks the bodys own cells and organs. In primary biliary cirrhosis, the immune system attacks the small bile ducts in the liver.
                
Genetics, or inherited genes, can make a person more likely to develop primary biliary cirrhosis. Primary biliary cirrhosis is more common in people who have a parent or siblingparticularly an identical twinwith the disease. In people who are genetically more likely to develop primary biliary cirrhosis, environmental factors may trigger or worsen the disease, including
                
- exposure to toxic chemicals  - smoking  - infections
                
Genetics can also make some people more likely to develop other autoimmune diseases, such as
                
- autoimmune hepatitis, a disease in which the bodys immune system attacks liver cells  - Sjgrens syndrome, a condition in which the immune system attacks the glands that produce tears and saliva  - autoimmune thyroid dysfunctions, conditions in which the immune system attacks the thyroid gland
Question: How to diagnose MTHFR gene mutation ?

Answer: Is genetic testing available to detect MTHFR gene mutations? Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. Genetic testing for C677T and A1286C may be indicated in a person with elevated homocysteine levels and one or more of the following, coronary artery disease venous thromboembolism stroke heart attack peripheral artery disease aneurysm high blood pressure recurrent pregnancy loss However, the American Heart Association recommends against testing for the common MTHFR gene mutations (C677T and A1298C) as a screen for increased risk of cardiovascular conditions. The College of American Pathologists and the American College of Medical Genetics recommend against testing for C677T and A1298C in people with blood clots. This is because the relationship between C677T and A1298C mutations and risk for cardiovascular disease is not completely understood. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Question: What are the symptoms of Warfarin sensitivity ?

Answer: What are the signs and symptoms of Warfarin sensitivity? The Human Phenotype Ontology provides the following list of signs and symptoms for Warfarin sensitivity. 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 blood and blood-forming tissues - Abnormality of metabolism/homeostasis - 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 Epilepsy, benign occipital ?

Answer: What are the signs and symptoms of Epilepsy, benign occipital? The Human Phenotype Ontology provides the following list of signs and symptoms for Epilepsy, benign occipital. 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 - EEG abnormality - 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 treatments for Oral lichen planus ?

Answer: How might oral lichen planus be treated? It is important to identify and remove any potential agent that might have caused a lichenoid reaction. Chemicals or medications associated with development of lichen planus include gold, antibiotics, arsenic, iodides, chloroquine, quinacrine, quinidine, antimony, phenothiazines, diuretics such as chlorothiazide, and many others.[2483] Consideration regarding role of drugs that were started in recent months prior to the on set of oral lichen planus, as well as any contact allergens identified by patch testing is recommended. Symptoms may improve with the following measures: Meticulous oral hygiene Stopping smoking Topical steroids as drops, pastes, gels or sprays (e.g., triamcinolone paste) Steroid injections (intralesional triamcinolone) Mouth rinse containing the calcineurin inhibitors: cyclosporin or tacrolimus In severe cases systemic corticosteroids may be used. Other possible therapeutic agents may include: Thalidomide Systemic retinoids (acitretin or isotretinoin) Griseofulvin Azathioprine Cyclophosphamide Dapsone Metronidazole Low molecular weight heparin
Question: What are the symptoms of Familial isolated hyperparathyroidism ?

Answer: What are the signs and symptoms of Familial isolated hyperparathyroidism? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial isolated hyperparathyroidism. 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 - Hypercalcemia - Primary hyperparathyroidism - 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: How to prevent Childhood Interstitial Lung Disease ?

Answer: At this time, most types of childhood interstitial lung disease (chILD) can't be prevented. People who have a family history of inherited (genetic) interstitial lung disease may want to consider genetic counseling. A counselor can explain the risk of children inheriting chILD.
                
You and your child can take steps to help prevent infections and other illnesses that worsen chILD and its symptoms. For example:
                
Make hand washing a family habit to avoid germs and prevent illnesses.
                
Try to keep your child away from people who are sick. Even a common cold can cause problems for someone who has chILD.
                
Talk with your child's doctor about vaccines that your child needs, such as an annual flu shot. Make sure everyone in your household gets all of the vaccines that their doctors recommend.
                
Talk with your child's doctor about how to prevent your child from getting respiratory syncytial (sin-SIT-e-al) virus. This common virus leads to cold and flu symptoms for most people. However, it can make children who have lung diseases very sick.
                
Avoid exposing your child to air pollution, tobacco smoke, and other substances that can irritate his or her lungs. Strongly advise your child not to smoke now or in the future.
Question: How to diagnose Bronchopulmonary Dysplasia ?

Answer: Infants who are born earlyusually more than 10 weeks before their due datesand still need oxygen therapy by the time they reach their original due dates are diagnosed with bronchopulmonary dysplasia (BPD).
                
BPD can be mild, moderate, or severe. The diagnosis depends on how much extra oxygen a baby needs at the time of his or her original due date. It also depends on how long the baby needs oxygen therapy.
                
To help confirm a diagnosis of BPD, doctors may recommend tests, such as:
                
Chest x ray. A chest x ray takes pictures of the structures inside the chest, such as the heart and lungs. In severe cases of BPD, this test may show large areas of air and signs of inflammation or infection in the lungs. A chest x ray also can detect problems (such as a collapsed lung) and show whether the lungs aren't developing normally.
                
Blood tests. Blood tests are used to see whether an infant has enough oxygen in his or her blood. Blood tests also can help determine whether an infection is causing an infant's breathing problems.
                
Echocardiography. This test uses sound waves to create a moving picture of the heart. Echocardiography is used to rule out heart defects or pulmonary hypertension as the cause of an infant's breathing problems
Question: What are the treatments for Progressive Supranuclear Palsy ?

Answer: There is currently no effective treatment for PSP, although scientists are searching for better ways to manage the disease. In some patients the slowness, stiffness, and balance problems of PSP may respond to antiparkinsonian agents such as levodopa, or levodopa combined with anticholinergic agents, but the effect is usually temporary. The speech, vision, and swallowing difficulties usually do not respond to any drug treatment.. Another group of drugs that has been of some modest success in PSP are antidepressant medications. The most commonly used of these drugs are Prozac, Elavil, and Tofranil. The anti-PSP benefit of these drugs seems not to be related to their ability to relieve depression. Non-drug treatment for PSP can take many forms. Patients frequently use weighted walking aids because of their tendency to fall backward. Bifocals or special glasses called prisms are sometimes prescribed for PSP patients to remedy the difficulty of looking down. Formal physical therapy is of no proven benefit in PSP, but certain exercises can be done to keep the joints limber. A surgical procedure, a gastrostomy, may be necessary when there are swallowing disturbances. This surgery involves the placement of a tube through the skin of the abdomen into the stomach (intestine) for feeding purposes.
Question: What is (are) X-linked infantile spasm syndrome ?

Answer: X-linked infantile spasm syndrome is a seizure disorder characterized by a type of seizure known as infantile spasms. The spasms usually appear before the age of 1. Several types of spasms have been described, but the most commonly reported involves bending at the waist and neck with extension of the arms and legs (sometimes called a jackknife spasm). Each spasm lasts only seconds, but they occur in clusters several minutes long. Although individuals are not usually affected while they are sleeping, the spasms commonly occur just after awakening. Infantile spasms usually disappear by age 5, but many children then develop other types of seizures that recur throughout their lives.  Most babies with X-linked infantile spasm syndrome have characteristic results on an electroencephalogram (EEG), a test used to measure the electrical activity of the brain. The EEG of these individuals typically shows an irregular pattern known as hypsarrhythmia, and this finding can help differentiate infantile spasms from other types of seizures.  Because of the recurrent seizures, babies with X-linked infantile spasm syndrome stop developing normally and begin to lose skills they have acquired (developmental regression), such as sitting, rolling over, and babbling. Subsequently, development in affected children is delayed. Most affected individuals also have intellectual disability throughout their lives.
Question: What are the genetic changes related to Wolf-Hirschhorn syndrome ?

Answer: Wolf-Hirschhorn syndrome is caused by a deletion of genetic material near the end of the short (p) arm of chromosome 4. This chromosomal change is sometimes written as 4p-. The size of the deletion varies among affected individuals; studies suggest that larger deletions tend to result in more severe intellectual disability and physical abnormalities than smaller deletions.  The signs and symptoms of Wolf-Hirschhorn are related to the loss of multiple genes on the short arm of chromosome 4. WHSC1, LETM1, and MSX1 are the genes that are deleted in people with the typical signs and symptoms of this disorder. These genes play significant roles in early development, although many of their specific functions are unknown. Researchers believe that loss of the WHSC1 gene is associated with many of the characteristic features of Wolf-Hirschhorn syndrome, including the distinctive facial appearance and developmental delay. Deletion of the LETM1 gene appears to be associated with seizures or other abnormal electrical activity in the brain. A loss of the MSX1 gene may be responsible for the dental abnormalities and cleft lip and/or palate that are often seen with this condition.  Scientists are working to identify additional genes at the end of the short arm of chromosome 4 that contribute to the characteristic features of Wolf-Hirschhorn syndrome.
Question: What is (are) Bowen-Conradi syndrome ?

Answer: Bowen-Conradi syndrome is a disorder that affects many parts of the body and is usually fatal in infancy. Affected individuals have a low birth weight, experience feeding problems, and grow very slowly. Their head is unusually small overall (microcephaly), but is longer than expected compared with its width (dolichocephaly). Characteristic facial features include a prominent, high-bridged nose and an unusually small jaw (micrognathia) and chin. Affected individuals typically have pinky fingers that are curved toward or away from the ring finger (fifth finger clinodactyly) or permanently flexed (camptodactyly), feet with soles that are rounded outward (rocker-bottom feet), and restricted joint movement.  Other features that occur in some affected individuals include seizures; structural abnormalities of the kidneys, heart, brain, or other organs; and an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate). Affected males may have the opening of the urethra on the underside of the penis (hypospadias) or undescended testes (cryptorchidism).  Babies with Bowen-Conradi syndrome do not achieve developmental milestones such as smiling or sitting, and they usually do not survive more than 6 months.