umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Hemochromatosis type 1 ?

Answer: How might hemochromatosis type 1 be treated?  Treatment for hemochromatosis might include phlebotomy, iron chelation therapy, dietary changes, and treatment for complications.The goal of treatment is to reduce the amount of iron in the body to normal levels, prevent or delay organ damage from excess iron, treat complications of hemochromatosis, and maintain normal amounts of iron throughout the lifetime. Phlebotomy aids in ridding the body of excess iron and maintaining normal iron stores. Most people begin treatment with weekly therapeutic phlebotomy of 500 mL whole blood-although sometimes treatment is initially twice a week. Maintenance phlebotomy usually involves treatment every 2-3 weeks in which 1 unit of blood is removed. For more detailed information regarding the treatment of hemochromatosis, please reference Medscape at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/177216-treatment
Question: Is Currarino triad inherited ?

Answer: How is Currarino triad inherited? Currarino triad is inherited in an autosomal dominant manner. This means that having a change (mutation) in only one copy of the MNX1 gene in each cell is enough to cause features of the condition. In some cases, an affected person inherits the mutated gene from an affected parent. In other cases, the mutation occurs for the first time in a person with no family history of the condition. This is called a de novo mutation. When a person with a mutation that causes an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit that mutation. A significant interfamilial (between different families) and intrafamilial (within the same family) variability in expression has been found without any definite correlation to the genetic mutations. This means in one family, a parent might only have one very mild feature of Currarino triad while one of their children might have severe forms of all three features and yet another child might have a mild form of one feature and a severe form of another.
Question: What is (are) Warfarin sensitivity ?

Answer: Warfarin sensitivity is a condition that is characterized by a reduced tolerance for a "blood-thinning" medication called warfarin. Warfarin is an anticoagulant that is often prescribed to people who are at an increased risk for blood clots. People with a warfarin sensitivity respond more strongly to lower doses of warfarin and are, therefore, more likely to experience an overdose or other serious side effects from the medication. They may experience abnormal bleeding in the brain, gastrointestinal tract, or other tissues even at average doses. The metabolism of warfarin and the drug's effects in the body are complex traits that are determined by several genes as well as environmental and lifestyle factors such as gender, age, weight, diet, and other medications. Two specific genetic polymorphisms in the CYP2C9 and VKORC1 genes account for approximately 30-40% of variation in the response to warfarin and can be passed on to future generations in an autosomal dominant manner.
Question: What is (are) Transient neonatal diabetes mellitus ?

Answer: Transient neonatal diabetes mellitus (TNDB) is a type of diabetes that appears within the first few weeks of life but is transient; affected infants go into remission within a few months, with possible relapse to permanent diabetes in adolescence or adulthood. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Approximately 70% of cases are caused by the overactivity of certain genes in a region of the long (q) arm of chromosome 6 called 6q24. These cases are referred to as 6q24-related TNDB; most (but not all) of these cases are not inherited. Other genetic causes include mutations in the KCNJ11 and ABCC8 genes, which usually cause permanent neonatal diabetes. Treatment may include rehydration and intravenous insulin at the time of diagnosis, followed by subcutaneous insulin.
Question: What are the treatments for Afibrinogenemia ?

Answer: How might afibrinogenemia be treated? There is no known prevention or cure for afibrinogenemia. To treat bleeding episodes or to prepare for surgery to treat other conditions, patients may receive: The liquid portion of the blood (plasma) A blood product containing concentrated fibrinogen (cryoprecipitate) through a vein (transfusion) Prophylactic therapy should also be considered for patients with recurrent bleeding episodes, CNS hemorrhage, or during pregnancy for women with recurrent miscarriage. Individuals with afibrinogenemia should consider the following as part of their management plan: Consultation with a hematologist/hemostasis specialist, particularly for patients who require fibrinogen replacement therapy. Genetic counseling and family studies, especially for individuals with extensive family history or those considering pregnancy. Follow-up by a comprehensive bleeding disorder care team experienced in diagnosing and managing inherited bleeding disorders. Vaccination with the hepatitis B vaccine because transfusion increases the risk of hepatitis.
Question: What is (are) Autosomal dominant partial epilepsy with auditory features ?

Answer: Autosomal dominant partial epilepsy with auditory features (ADPEAF) is a rare form of epilepsy, a condition that is characterized by recurrent seizures. In ADPEAF, specifically, most affected people experience secondary generalized seizures and partial seizures, some of which are associated with sound-related symptoms (such as buzzing, humming, or ringing) and/or receptive aphasia (inability to understand written or spoken words). Less commonly, seizures may cause visual hallucinations, a disturbance in the sense of smell, vertigo, or other symptoms affecting the senses. Signs and symptoms of the condition generally begin in adolescence or early adulthood. ADPEAF is caused by changes (mutations) in the LGI1 or RELN gene and is inherited in an autosomal dominant manner. The seizures associated with ADPEAF are typically well controlled with medications that are used to treat epilepsy (called antiepileptic drugs).
Question: What is (are) Anencephaly ?

Answer: Anencephaly is a type of neural tube defect characterized by abnormal development of the brain and the bones of the skull. The neural tube is a narrow channel that normally folds and closes between the 3rd and 4th weeks of pregnancy, forming the brain and spinal cord of the embryo. Anencephaly occurs when the 'cephalic' or head end of the neural tube fails to close, causing the absence of a major portion of the brain, skull, and scalp. Infants with this disorder are born without a forebrain (the front part of the brain) and a cerebrum (the thinking and coordinating part of the brain). The remaining brain tissue is often exposed (not covered by bone or skin). Affected babies are usually blind, deaf, unconscious, and unable to feel pain. Almost all babies with anencephaly die before birth, although some may survive a few hours or a few days after birth. Anencephaly is likely caused by an interaction between genetic and environmental factors, many of which remain unknown.
Question: What is (are) Iridocorneal endothelial syndrome ?

Answer: Iridocorneal endothelial (ICE) syndrome describes a group of eye diseases that are characterized by three main features:  Visible changes in the iris (the colored part of the eye that regulates the amount of light entering the eye)  Swelling of the cornea, and  The development of glaucoma (a disease that can cause severe vision loss when normal fluid inside the eye cannot drain properly) ICE syndrome, is more common in women than men, most commonly diagnosed in middle age, and is usually present in only one eye. The condition is actually a grouping of three closely linked conditions: Cogan-Reese syndrome; Chandler's syndrome; and essential (progressive) iris atrophy. The cause of ICE syndrome is unknown, however there is a theory that it is triggered by a virus that leads to swelling of the cornea. While there is no way to stop the progression of the condition, treatment of the symptoms may include medication for glaucoma and corneal transplant for corneal swelling.
Question: What are the treatments for Pyruvate kinase deficiency ?

Answer: How might pyruvate kinase deficiency be treated? Mild cases require no treatment. People with severe anemia may need blood transfusions.  In newborns with dangerous levels of jaundice, a health care provider may recommend an exchange transfusion. Surgical removal of the spleen (splenectomy) may also be necessary to help reduce the destruction of red blood cells. However, this does not help in all cases. With small children, this is delayed as long as possible to allow the immune system to mature. Other treatment is symptomatic and supportive. Someone who had a splenectomy should receive the pneumococcal vaccine at recommended intervals. They also should receive preventive antibiotics until age 5.  An article from eMedicine Journal provides additional information on treatment for pyruvate kinase deficiency at the following link. You may need to register to view the article, but registration is free. http://emedicine.medscape.com/article/125096-treatment#showall
Question: Who is at risk for Bronchiectasis? ?

Answer: People who have conditions that damage the lungs or increase the risk of lung infections are at risk for bronchiectasis. Such conditions include:
                
Cystic fibrosis. This disease leads to almost half of the cases of bronchiectasis in the United States.
                
Immunodeficiency disorders, such as common variable immunodeficiency and, less often, HIV and AIDS.
                
Allergic bronchopulmonary aspergillosis. This is an allergic reaction to a fungus called aspergillus. The reaction causes swelling in the airways.
                
Disorders that affect cilia function, such as primary ciliary dyskinesia. Cilia are small, hair-like structures that line your airways. They help clear mucus (a slimy substance) out of your airways.
                
Bronchiectasis can develop at any age. Overall, two-thirds of people who have the condition are women. However, in children, the condition is more common in boys than in girls.
Question: What is (are) Alternating Hemiplegia ?

Answer: Alternating hemiplegia is a rare neurological disorder that develops in childhood, most often before the child is 18 months old. The disorder is characterized by recurrent episodes of paralysis that involve one or both sides of the body, multiple limbs, or a single limb. The paralysis may affect different parts of the body at different times and may be brief or last for several days. Oftentimes these episodes will resolve after sleep. Affected children may also have abnormal movements involving stiffening or "dance-like" movements of a limb, as well as walking and balance problems. Some children have seizures. Children may have normal or delayed development. There are both benign and more serious forms of the disorder. Most children do not have a family history of the disorder; however, recent studies have show that some children with a family history have mutations in the genes CACNA1A, SCN1A, and ATP1A2. Mutations in the ATP1A2 gene have previously been associated with families affect by familial hemiplegic migraine.
Question: What are the genetic changes related to aspartylglucosaminuria ?

Answer: Mutations in the AGA gene cause aspartylglucosaminuria. The AGA gene provides instructions for producing an enzyme called aspartylglucosaminidase. This enzyme is active in lysosomes, which are structures inside cells that act as recycling centers. Within lysosomes, the enzyme helps break down complexes of sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins).  AGA gene mutations result in the absence or shortage of the aspartylglucosaminidase enzyme in lysosomes, preventing the normal breakdown of glycoproteins. As a result, glycoproteins can build up within the lysosomes. Excess glycoproteins disrupt the normal functions of the cell and can result in destruction of the cell. A buildup of glycoproteins seems to particularly affect nerve cells in the brain; loss of these cells causes many of the signs and symptoms of aspartylglucosaminuria.
Question: What are the treatments for Loeys-Dietz syndrome ?

Answer: These resources address the diagnosis or management of Loeys-Dietz syndrome:  - Gene Review: Gene Review: Loeys-Dietz Syndrome  - Genetic Testing Registry: Loeys-Dietz syndrome  - Genetic Testing Registry: Loeys-Dietz syndrome 1  - Genetic Testing Registry: Loeys-Dietz syndrome 2  - Genetic Testing Registry: Loeys-Dietz syndrome 3  - Genetic Testing Registry: Loeys-Dietz syndrome 4  - Johns Hopkins Medicine: Diagnosis of Craniosynostosis  - MedlinePlus Encyclopedia: Aortic Dissection  - National Heart Lung and Blood Institute: How Is an Aneurysm Treated?   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 myotonia congenita ?

Answer: Mutations in the CLCN1 gene cause myotonia congenita.  The CLCN1 gene provides instructions for making a protein that is critical for the normal function of skeletal muscle cells. For the body to move normally, skeletal muscles must tense (contract) and relax in a coordinated way. Muscle contraction and relaxation are controlled by the flow of charged atoms (ions) into and out of muscle cells. Specifically, the protein produced from the CLCN1 gene forms a channel that controls the flow of negatively charged chlorine atoms (chloride ions) into these cells. The main function of this channel is to stabilize the cells' electrical charge, which prevents muscles from contracting abnormally.  Mutations in the CLCN1 gene alter the usual structure or function of chloride channels. The altered channels cannot properly regulate ion flow, reducing the movement of chloride ions into skeletal muscle cells. This disruption in chloride ion flow triggers prolonged muscle contractions, which are the hallmark of myotonia.
Question: What is (are) Alagille Syndrome ?

Answer: Alagille syndrome is a genetic condition that results in various symptoms in different parts of the body, including the liver. A person with Alagille syndrome has fewer than the normal number of small bile ducts inside the liver. The liver is the organ in the abdomenthe area between the chest and hipsthat makes blood proteins and bile, stores energy and nutrients, fights infection, and removes harmful chemicals from the blood.
                
Bile ducts are tubes that carry bile from the liver cells to the gallbladder for storage and to the small intestine for use in digestion. Bile is fluid made by the liver that carries toxins and waste products out of the body and helps the body digest fats and the fat-soluble vitamins A, D, E, and K. In people with Alagille syndrome, the decreased number of bile ducts causes bile to build up in the liver, a condition also called cholestasis, leading to liver damage and liver disease.
Question: How to diagnose Vesicoureteral Reflux ?

Answer: Following diagnosis, children with VUR should have a general medical evaluation that includes blood pressure measurement, as high blood pressure is an indicator of kidney damage. If both kidneys are affected, a childs blood should be tested for creatininea waste product of normal muscle breakdown. Healthy kidneys remove creatinine from the blood; when the kidneys are damaged, creatinine builds up in the blood. The urine may be tested for the presence of protein and bacteria. Protein in the urine is another indication of damaged kidneys.
                
- having to urinate often or suddenly  - long periods of time between bathroom visits  - daytime wetting  - pain in the penis or perineumthe area between the anus and genitals  - posturing to prevent wetting  - constipationa condition in which a child has fewer than two bowel movements in a week; the bowel movements may be painful  - fecal incontinenceinability to hold stool in the colon and rectum, which are parts of the large intestine
Question: What is the outlook for Gallbladder Cancer ?

Answer: Certain factors affect the prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on the following:          - The stage of the cancer (whether the cancer has spread from the gallbladder to other places in the body).    - Whether the cancer can be completely removed by surgery.    - The type of gallbladder cancer (how the cancer cell looks under a microscope).    - Whether the cancer has just been diagnosed or has recurred (come back).        Treatment may also depend on the age and general health of the patient and whether the cancer is causing signs or symptoms.   Gallbladder cancer can be cured only if it is found before it has spread, when it can be removed by surgery. If the cancer has spread, palliative treatment can improve the patient's quality of life by controlling the symptoms and complications of this disease.   Taking part in one of the clinical trials being done to improve treatment should be considered. Information about ongoing clinical trials is available from the NCI website.
Question: What are the symptoms of Childhood Central Nervous System Germ Cell Tumors ?

Answer: Signs and symptoms of childhood CNS germ cell tumors include unusual thirst, frequent urination, early puberty, or vision changes. Signs and symptoms depend on the following:         - Where the tumor has formed.    - The size of the tumor.    - Whether the tumor makes hormones.        Signs and symptoms may be caused by childhood CNS germ cell tumors or by other conditions. Check with your childs doctor if your child has any of the following:         - Being very thirsty.    - Making large amounts of urine that is clear or almost clear.    - Frequent urination.    - Bed wetting or getting up at night to urinate.    - Trouble moving the eyes or trouble seeing clearly.    - Loss of appetite.    - Weight loss for no known reason.    - Early or late puberty.    - Short stature (being shorter than normal).    - Headaches.    -  Nausea and vomiting.    - Feeling very tired.    - Having problems with school work.
Question: Do you have information about Heroin

Answer: Summary : Heroin is a white or brown powder or a black, sticky goo. It's made from morphine, a natural substance in the seedpod of the Asian poppy plant. It can be mixed with water and injected with a needle. Heroin can also be smoked or snorted up the nose. All of these ways of taking heroin send it to the brain very quickly. This makes it very addictive.    Major health problems from heroin include miscarriages, heart infections, and death from overdose. People who inject the drug also risk getting infectious diseases, including HIV/AIDS and hepatitis.    Regular use of heroin can lead to tolerance. This means users need more and more drug to have the same effect. At higher doses over time, the body becomes dependent on heroin. If dependent users stop heroin, they have withdrawal symptoms. These symptoms include restlessness, muscle and bone pain, diarrhea and vomiting, and cold flashes with goose bumps.     NIH: National Institute on Drug Abuse
Question: What is (are) Fifth Disease ?

Answer: Fifth disease is a viral infection caused by parvovirus B19. The virus only infects humans; it's not the same parvovirus that dogs and cats can get. Fifth disease mostly affects children. Symptoms can include a low fever, cold symptoms, and a headache. Then you get a red rash on your face. It looks like a "slapped cheek." The rash can spread to the arms, legs, and trunk. Adults who get it might also have joint pain and swelling.    Fifth disease spreads easily, through saliva and mucus. You can get it when an infected person coughs or sneezes. Frequently washing your hands might help prevent getting the virus. Most people become immune to the virus after having it once.    Fifth disease is usually mild and goes away on its own. However, it can be serious if you       -  Are pregnant    -  Are anemic    -  Have cancer or a weak immune system        Centers for Disease Control and Prevention
Question: What is (are) Periventricular heterotopia ?

Answer: Periventricular heterotopia is a condition in which the nerve cells (neurons) do not migrate properly during the early development of the fetal brain from about the 6th week to the 24th week of pregnancy. Affected people typically develop recurrent seizures (epilepsy) beginning in mid-adolescence. Intelligence is generally normal; however, some affected people may have mild intellectual disability, including difficulty with reading and/or spelling. Less common signs and symptoms include microcephaly, developmental delay, recurrent infections, and blood vessel abnormalities. Some cases are caused by changes (mutations) in the FLNA gene and are inherited in an X-linked dominant manner. Others are caused by mutations in the ARFGEF2 gene and are inherited in an autosomal recessive manner. Rarely, periventricular heterotopia is associated with duplication of genetic material on chromosome 5. Treatment is generally focused on managing recurrent seizures with medications.
Question: What is (are) Calciphylaxis ?

Answer: Calciphylaxis is a disease in which blood vessels (veins and arteries) become blocked by a build-up of calcium in the walls of the vessels, preventing blood from flowing to the skin or internal organs.  The lack of blood flow (ischemia) damages healthy tissue and causes it to die (necrosis).  The most obvious and frequent symptom of calciphylaxis is damage to the skin, as ulcers can develop and become infected easily.  Calciphylaxis can also affect fat tissue, internal organs, and skeletal muscle, causing infections, pain, and organ failure.  These symptoms are often irreversible, and many individuals with calciphylaxis may not survive more than a few months after they are diagnosed due to infection that spreads throughout the body (sepsis), or organ failure.  The exact cause of calciphylaxis is unknown.  Treatments may include medications to reduce pain, antibiotics to treat infections, and various approaches to preventing the development or worsening of this condition.
Question: How to diagnose Progressive bulbar palsy ?

Answer: How is progressive bulbar palsy diagnosed? What tests aid in the diagnosis of progressive bulbar palsy? Progressive bulbar palsy is a difficult to diagnose condition. No one test or procedure offers a definitive diagnosis. Diagnosis is largely based upon the person's symptoms, tests that show how well their nerves are working (e.g., an EMG or electromyography), and ruling out other causes for the symptoms. Particularly, stroke and a condition called myasthenia gravis, may have certain symptoms that are similar to those of progressive bulbar palsy and must be ruled out prior to diagnosing this disorder. Testing for acetylcholine receptor-binding antibodies may be helpful in ruling out myasthenia gravis. Because of the lack of definitive tests, you may find it helpful to consult with a doctor who is experienced in diagnosing ALS. The ALS Association lists experts and specialty centers through their Web site at: http://www.alsa.org/community/als-clinics