umarjan11/Medical-qna huggingface dataset:
Question: How to diagnose Narcolepsy ?

Answer: How is narcolepsy diagnosed? Narcolepsy is often diagnosed in adolescence and young adulthood, when falling asleep suddenly in school brings the problem to attention. However, for many people with narcolepsy, the disorder is not diagnosed for up to 10-15 years after symptoms first begin. The disorder may be misdiagnosed as various other conditions or psychological problems. While it is most easily recognized if all the major symptoms are reported, making the diagnosis based solely on symptoms is difficult. People often seek medical help for single symptoms that could be associated with other disorders, particularly epilepsy. In come cases, symptoms are not dramatically apparent for years. Sleep studies are an essential part of the evaluation of people with possible narcolepsy. The combination of an overnight polysomnogram (PSG) followed by a multiple sleep latency test (MSLT) can provide strongly suggestive evidence of narcolepsy, while excluding other sleep disorders. Measurement of hypocretin levels in the cerebrospinal fluid (CSF) may further help to establish the diagnosis. People with narcolepsy often have extremely low levels of hypocretin in their CSF. In some cases, human leukocyte antigen (HLA) typing may be helpful.
Question: What is (are) 22q11.2 duplication syndrome ?

Answer: 22q11.2 duplication syndrome is a condition caused by an extra copy of a small piece of chromosome 22 which contains about 30 to 40 genes. The features of this condition vary widely, even among members of the same family (intrafamilial variability). Affected individuals may have intellectual or learning disability, developmental delay, slow growth leading to short stature, and weak muscle tone (hypotonia). Many people with the condition have no apparent physical or intellectual disabilities. It is inherited in an autosomal dominant manner, with about 70% genes of affected individuals inheriting the condition from a parent. In other cases it occurs as a de novo mutation (new genetic change) in an individual; however, individuals with a de novo mutation can can pass the duplication to their children. Researchers are working to determine which duplicated genes may contribute to the developmental delay and other problems that sometimes affect people with this condition. Duplication is not detectable by karyotype and most of the people with 22q11.2 duplication syndrome are identified by a special technique known as chromosomal microarray. Treatment depends on the symptoms and includes an individualized educational program. Read more out chromosome 22.
Question: What are the symptoms of Priapism ?

Answer: What are the signs and symptoms of Priapism? The Human Phenotype Ontology provides the following list of signs and symptoms for Priapism. 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 - Priapism - 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 diagnose Marburg hemorrhagic fever (Marburg HF) ?

Answer: Many of the signs and symptoms of Marburg hemorrhagic fever are similar to those of other more frequent infectious diseases, such as malaria or typhoid fever, making diagnosis of the disease difficult. This is especially true if only a single case is involved. 
 
However, if a person has the early symptoms of Marburg HF and there is reason to believe that Marburg HF should be considered, the patient should be isolated and public health professionals notified. Samples from the patient can then be collected and tested to confirm infection. 
 
Antigen-capture enzyme-linked immunosorbent assay (ELISA) testing, polymerase chain reaction (PCR), and IgM-capture ELISA can be used to confirm a case of Marburg HF within a few days of symptom onset. Virus isolation may also be performed but should only be done in a high containment laboratory with good laboratory practices. The IgG-capture ELISA is appropriate for testing persons later in the course of disease or after recovery. In deceased patients, immunohistochemistry, virus isolation, or PCR of blood or tissue specimens may be used to diagnose Marburg HF retrospectively.
Question: What is (are) pyridoxal 5'-phosphate-dependent epilepsy ?

Answer: Pyridoxal 5'-phosphate-dependent epilepsy is a condition that involves seizures beginning soon after birth or, in some cases, before birth. The seizures typically involve irregular involuntary muscle contractions (myoclonus), abnormal eye movements, and convulsions. Most babies with this condition are born prematurely and may have a temporary, potentially toxic, increase in lactic acid in the blood (lactic acidosis). Additionally, some infants have a slow heart rate and a lack of oxygen during delivery (fetal distress).  Anticonvulsant drugs, which are usually given to control seizures, are ineffective in people with pyridoxal 5'-phosphate-dependent epilepsy. Instead, individuals with this type of epilepsy are medically treated with large daily doses of pyridoxal 5'-phosphate (a form of vitamin B6). If left untreated, people with this condition can develop severe brain dysfunction (encephalopathy), which can lead to death. Even though seizures can be controlled with pyridoxal 5'-phosphate, neurological problems such as developmental delay and learning disorders may still occur.
Question: How many people are affected by systemic lupus erythematosus ?

Answer: For unknown reasons, in industrialized Western countries SLE has become 10 times more common over the past 50 years. While estimates of its prevalence vary, SLE is believed to affect 14.6 to 68 per 100,000 people in the United States, with females developing SLE more often than males. It is most common in younger women; however, 20 percent of SLE cases occur in people over age 50. Because many of the signs and symptoms of SLE resemble those of other disorders, diagnosis may be delayed for years, and the condition may never be diagnosed in some affected individuals.  In industrialized Western countries, people of African and Asian descent are two to four times more likely to develop SLE than are people of European descent. However, while the prevalence of SLE in Africa and Asia is unknown, it is believed to be much lower than in Western nations. Researchers suggest that factors such as ethnic mixing, tobacco use in industrialized countries, and the different types of infections people acquire in different regions may help account for the discrepancy. For example malaria, which occurs often in tropical regions, is thought to be protective against SLE, while the Epstein-Barr virus, more common in the West, increases SLE risk.
Question: What are the genetic changes related to beta thalassemia ?

Answer: Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called beta-globin. Beta-globin is a component (subunit) of hemoglobin. Hemoglobin consists of four protein subunits, typically two subunits of beta-globin and two subunits of another protein called alpha-globin.  Some mutations in the HBB gene prevent the production of any beta-globin. The absence of beta-globin is referred to as beta-zero (B0) thalassemia. Other HBB gene mutations allow some beta-globin to be produced but in reduced amounts. A reduced amount of beta-globin is called beta-plus (B+) thalassemia. Having either B0 or B+ thalassemia does not necessarily predict disease severity, however; people with both types have been diagnosed with thalassemia major and thalassemia intermedia.  A lack of beta-globin leads to a reduced amount of functional hemoglobin. Without sufficient hemoglobin, red blood cells do not develop normally, causing a shortage of mature red blood cells. The low number of mature red blood cells leads to anemia and other associated health problems in people with beta thalassemia.
Question: What are the genetic changes related to Timothy syndrome ?

Answer: Mutations in the CACNA1C gene are responsible for all reported cases of Timothy syndrome. This gene provides instructions for making a protein that acts as a channel across cell membranes. This channel, known as CaV1.2, is one of several channels that transport positively charged calcium atoms (calcium ions) into cells. Calcium ions are involved in many different cellular functions, including cell-to-cell communication, the tensing of muscle fibers (muscle contraction), and the regulation of certain genes. CaV1.2 calcium channels are particularly important for the normal function of heart and brain cells. In cardiac muscle, these channels play a critical role in maintaining the heart's normal rhythm. Their role in the brain and in other tissues is less clear.  Mutations in the CACNA1C gene change the structure of CaV1.2 channels. The altered channels stay open much longer than usual, which allows calcium ions to continue flowing into cells abnormally. The resulting overload of calcium ions within cardiac muscle cells changes the way the heart beats and can cause arrhythmia. Researchers are working to determine how an increase in calcium ion transport in other tissues, including cells in the brain, underlies the other features of Timothy syndrome.
Question: What are the symptoms of Depression ?

Answer: Symptoms of depression often vary depending upon the person. Common symptoms include - feeling nervous or emotionally empty  - tiredness or a "slowed down" feeling  - feeling guilty or worthless  - restlessness and irritability  - feeling like life is not worth living  - sleep problems such as insomnia, oversleeping or wakefulness in the middle of the night   - eating more or less than usual, usually with unplanned weight gain or loss  - having persistent headaches, stomach-aches or other chronic pain that does not go away when treated  - loss of interest in once pleasurable activities  - frequent crying  - difficulty focusing, remembering or making decisions  - thoughts of death or suicide. feeling nervous or emotionally empty tiredness or a "slowed down" feeling feeling guilty or worthless restlessness and irritability feeling like life is not worth living sleep problems such as insomnia, oversleeping or wakefulness in the middle of the night eating more or less than usual, usually with unplanned weight gain or loss having persistent headaches, stomach-aches or other chronic pain that does not go away when treated loss of interest in once pleasurable activities frequent crying difficulty focusing, remembering or making decisions thoughts of death or suicide.
Question: What causes Gum (Periodontal) Disease ?

Answer: If your hands have become stiff because of arthritis or if you have a physical disability, you may find it difficult to use your toothbrush or dental floss. The following tips might make it easier for you to clean your teeth and gums. Make the toothbrush easier to hold. The same kind of Velcro strap used to hold food utensils is helpful for some people. Make the toothbrush handle bigger. You can cut a small slit in the side of a tennis ball and slide it onto the handle of the toothbrush. You can also buy a toothbrush with a large handle, or you can slide a bicycle grip onto the handle. Attaching foam tubing, available from home health care catalogs, is also helpful. Try other toothbrush options. A power toothbrush might make brushing easier. Some people may find that it takes time to get used to a power toothbrush. A floss holder can make it easier to hold the dental floss. Also, talk with your dentist about whether an oral irrigation system, special small brushes, or other instruments that clean between teeth are right for you. Be sure to check with your dentist, though, before using any of these methods since they may injure the gums if used improperly.
Question: Do you have information about Cold and Cough Medicines

Answer: Summary : Sneezing, sore throat, a stuffy nose, coughing -- everyone knows the symptoms of the common cold. It is probably the most common illness. In the course of a year, people in the United States suffer 1 billion colds.     What can you do for your cold or cough symptoms? Besides drinking plenty of fluids and getting plenty of rest, you may want to take medicines. There are lots of different cold and cough medicines, and they do different things.       - Nasal decongestants - unclog a stuffy nose    - Cough suppressants - quiet a cough    - Expectorants - loosen mucus so you can cough it up     - Antihistamines - stop runny noses and sneezing    - Pain relievers - ease fever, headaches, and minor aches and pains       Here are some other things to keep in mind about cold and cough medicines. Read labels, because many cold and cough medicines contain the same active ingredients. Taking too much of certain pain relievers can lead to serious injury. Do not give cough medicines to children under four, and don't give aspirin to children. Finally, antibiotics won't help a cold.    Food and Drug Administration
Question: What is (are) Hypoglycemia ?

Answer: Hypoglycemia means low blood glucose, or blood sugar. Your body needs glucose to have enough energy. After you eat, your blood absorbs glucose. If you eat more sugar than your body needs, your muscles, and liver store the extra. When your blood sugar begins to fall, a hormone tells your liver to release glucose.    In most people, this raises blood sugar. If it doesn't, you have hypoglycemia, and your blood sugar can be dangerously low. Signs include        - Hunger    - Shakiness    - Dizziness    - Confusion    - Difficulty speaking    - Feeling anxious or weak       In people with diabetes, hypoglycemia is often a side effect of diabetes medicines. Eating or drinking something with carbohydrates can help. If it happens often, your health care provider may need to change your treatment plan.    You can also have low blood sugar without having diabetes. Causes include certain medicines or diseases, hormone or enzyme deficiencies, and tumors. Laboratory tests can help find the cause. The kind of treatment depends on why you have low blood sugar.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: Do you have information about Breast Reconstruction

Answer: Summary : If you need a mastectomy, you have a choice about whether or not to have surgery to rebuild the shape of the breast. Instead of breast reconstruction, you could choose to wear a breast form that replaces the breast, wear padding inside your bra, or do nothing. All of these options have pros and cons. What is right for one woman may not be right for another.    Breast reconstruction may be done at the same time as the mastectomy, or it may be done later on. If radiation therapy is part of the treatment plan, your doctor may suggest waiting until after radiation therapy.    If you're thinking about breast reconstruction, talk to a plastic surgeon before the mastectomy, even if you plan to have your reconstruction later on.    A surgeon can reconstruct the breast in many ways. Some women choose to have breast implants, which are filled with saline or silicone gel. Another method uses tissue taken from another part of your body. The plastic surgeon can take skin, muscle, and fat from your lower abdomen, back, or buttocks.    The type of reconstruction that is best for you depends on your age, body type, and the type of cancer surgery that you had. A plastic surgeon can help you decide.    NIH: National Cancer Institute
Question: What is (are) HIV/AIDS ?

Answer: HIV stands for human immunodeficiency virus. It kills or damages the body's immune system cells. AIDS stands for acquired immunodeficiency syndrome. It is the most advanced stage of infection with HIV.     HIV most often spreads through unprotected sex with an infected person. It may also spread by sharing drug needles or through contact with the blood of an infected person. Women can give it to their babies during pregnancy or childbirth.     The first signs of HIV infection may be swollen glands and flu-like symptoms. These may come and go a month or two after infection. Severe symptoms may not appear until months or years later.     A blood test can tell if you have HIV infection. Your health care provider can perform the test, or call the national referral hotline at 1-800-CDC-INFO (24 hours a day, 1-800-232-4636 in English and en espaol; 1-888-232-6348 - TTY).     There is no cure, but there are many medicines to fight both HIV infection and the infections and cancers that come with it. People can live with the disease for many years.
Question: What is (are) Dengue ?

Answer: Dengue is an infection caused by a virus. You can get it if an infected mosquito bites you. Dengue does not spread from person to person. It is common in warm, wet areas of the world. Outbreaks occur in the rainy season. Dengue is rare in the United States.     Symptoms include a high fever, headaches, joint and muscle pain, vomiting, and a rash. In some cases, dengue turns into dengue hemorrhagic fever, which causes bleeding from your nose, gums, or under your skin. It can also become dengue shock syndrome, which causes massive bleeding and shock. These forms of dengue are life-threatening.    There is no specific treatment. Most people with dengue recover within 2 weeks. Until then, drinking lots of fluids, resting and taking non-aspirin fever-reducing medicines might help. People with the more severe forms of dengue usually need to go to the hospital and get fluids.    To lower your risk when traveling to areas where dengue is found       - Wear insect repellent with DEET     - Wear clothes that cover your arms, legs and feet     - Close unscreened doors and windows        NIH: National Institute of Allergy and Infectious Diseases
Question: What is (are) Diabetes mellitus type 1 ?

Answer: Diabetes mellitus type 1 (DM1) is a condition in which cells in the pancreas (beta cells) stop producing insulin, causing abnormally high blood sugar levels. Lack of insulin results in the inability of the body to use glucose for energy and control the amount of sugar in the blood. DM1 can occur at any age, but usually develops by early adulthood, most often in adolescence. Symptoms of high blood sugar may include frequent urination, excessive thirst, fatigue, blurred vision, tingling or loss of feeling in the hands and feet, and weight loss. The exact cause of DM1 is unknown, but having certain "variants" of specific genes may increase a person's risk to develop the condition. A predisposition to develop DM1 runs in families, but no known inheritance pattern exists. Treatment includes blood sugar control and insulin replacement therapy. Improper control can cause recurrence of high blood sugar, or abnormally low blood sugar (hypoglycemia) during exercise or when eating is delayed. If not treated, the condition can be life-threatening. Over many years, chronic high blood sugar may be associated with a variety of complications that affect many parts of the body.
Question: What is (are) Chordoma ?

Answer: A chordoma is a rare tumor that develops from cells of the notochord, a structure that is present in the developing embryo and is important for the development of the spine. The notochord usually disappears before birth, though a few cells may remain embedded in the bones of the spine or at the base of the skull.  Chordomas can occur anywhere along the spine. Approximately half of all chordomas occur at the base of the spine; approximately one third occur at the base of the skull. Chordomas grow slowly, extending gradually into the surrounding bone and soft tissue. The actual symptoms depend on the location of the chordoma. A chordoma at the base of the skull may lead to double vision and headaches. A chordoma that occurs at the base of the spine may cause problems with bladder and bowel function. Chordomas typically occur in adults between the ages of 40 and 70. In many cases, the cause of the chordoma remains unknown. Recent studies have shown that changes in the T gene have been associated with chordoma in a small set of families. In these families an inherited duplication of the T gene is associated with an increased risk of developing chordoma. People with this inherited duplication inherit an increased risk for the condition, not the condition itself.
Question: What is (are) Rhabdoid tumor ?

Answer: Rhabdoid tumor (RT) is an aggressive pediatric soft tissue sarcoma that arises in the kidney, the liver, the peripheral nerves and all miscellaneous soft-parts throughout the body. RT involving the central nervous system (CNS) is called atypical teratoid rhabdoid tumor. RT usually occurs in infancy or childhood. In most cases, the first symptoms are linked to the compressive effects of a bulky tumor (such as respiratory distress, abdomen mass, peripheral nerve palsy). In about 90% of the cases it is caused by a mutation in the SMARCB1 gene, which is a tumor suppressor gene and in rare cases by a mutation in the SMARCA4 gene. No standard care exists for RT although there are a lot of studies. Treatment includes resection of the tumor mass and chemotherapy and radiotherapy. Because atypical teratoid rhabdoid tumors and rhabdoid tumors of the kidney have the same gene mutation and similar biopsy findings they are considered now identical or closely related entities. Also, 10-15% of patients with malignant rhabdoid tumors have brain tumors.
Question: What are the treatments for Norrie disease ?

Answer: How might Norrie disease be treated? Because most males with Norrie disease (ND) have complete retinal detachment at the time of birth, surgical intervention after that time is typically not effective for preserving sight. Furthermore, we were unable to find reports about restoring sight to affected individuals after sight has been lost. Individuals without complete retinal detachment may benefit from intervention; however, vitrectomy and laser photocoagulation are reportedly challenging and often associated with poor outcome. A more recent case report reported evidence that immediate, prophylactic laser treatment at birth may prevent retinal detachment and blindness. The individual described in the study was known to be at risk and was diagnosed before birth via amniocentesis, and thus laser treatment shortly after birth was able to be performed. The authors of this report state that although the results they achieved are encouraging, longer observation of a larger number of patients is needed to determine the effectivness of this new approach. In some cases, surgery may be required when progression of the condition leads to increased pressure within the eye. Rarely, enucleation (removal) of the eye may be necessary to control pain. For individuals with hearing loss, hearing aid augmentation is usually successful until middle or late adulthood. Cochlear implants may be considered when function is severely impaired.