umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Age-related Macular Degeneration ?

Answer: Dry AMD has three stages -- early AMD, intermediate AMD, and advanced dry AMD. All of these may occur in one or both eyes. People with early dry AMD have either several small drusen or a few medium-sized drusen. Drusen are yellow deposits under the retina which often are found in people over age 50. People with early AMD have no symptoms and no vision loss. People with intermediate dry AMD have either many medium-sized drusen or one or more large drusen. Some people see a blurred spot in the center of their vision. More light may be needed for reading and other tasks. In addition to drusen, people with advanced dry AMD have a breakdown of light-sensitive cells and supporting tissue in the macula. This breakdown can cause a blurred spot in the center of your vision. Over time, the blurred spot may get bigger and darker, taking more of your central vision. You may have difficulty reading or recognizing faces until they are very close to you.
Question: What are the treatments for Colorectal Cancer ?

Answer: Even if the doctor removes all the cancer that can be seen at the time of the operation, many patients receive chemotherapy after surgery to kill any cancer cells that are left. Chemotherapy treatment after surgery -- to increase the chances of a cure -- is called adjuvant therapy. Researchers have found that patients who received adjuvant therapy usually survived longer and went for longer periods of time without a recurrence of colon cancer than patients treated with surgery alone. Patients age 70 and older benefited from adjuvant treatment as much as their younger counterparts. In fact, adjuvant therapy is equally as effective -- and no more toxic -- for patients 70 and older as it is for younger patients, provided the older patients have no other serious diseases. Adjuvant chemotherapy is standard treatment for patients whose cancer is operable and who are at high risk for a recurrence of the disease. Most cases of colon cancer occur in individuals age 65 and over. But studies have shown that older patients receive adjuvant chemotherapy less frequently than younger patients.
Question: What is (are) Granulomatosis with Polyangiitis ?

Answer: Granulomatosis with polyangiitis (GPA), previously known as Wegener's granulomatosis, is a rare disease. It is a type of vasculitis, or inflammation of the blood vessels. The inflammation limits the flow of blood to important organs, causing damage. It can affect any organ, but it mainly affects the sinuses, nose, trachea (windpipe), lungs, and kidneys.     The cause of GPA is unknown. It can affect people at any age. Men and women are equally affected. It is more common in whites. Symptoms may include joint pain, weakness, tiredness, and cold symptoms such as a runny nose that doesn't get better. Doctors use blood tests, chest X-rays, and biopsies to diagnose GPA and rule out other causes of the symptoms.    Early treatment is important. Most people improve with medicines to slow or stop the inflammation.     NIH: National Institute of Allergy and Infectious Diseases
Question: What is (are) Twins, Triplets, Multiple Births ?

Answer: If you are pregnant with more than one baby, you are far from alone. Multiple births are up in the United States. More women are having babies after age 30 and more are taking fertility drugs. Both boost the chance of carrying more than one baby. A family history of twins also makes multiples more likely.    Years ago, most twins came as a surprise. Now, most women know about a multiple pregnancy early. Women with multiple pregnancies should see their health care providers more often than women who are expecting one baby. Multiple pregnancy babies have a much higher risk of being born prematurely and having a low birth weight. There is also more of a risk of disabilities. Some women have to go on bed rest to delay labor. Finally, they may deliver by C-section, especially if there are three babies or more.    Parenting multiples can be a challenge. Volunteer help and support groups for parents of multiples can help.    Dept. of Health and Human Services Office on Women's Health
Question: What is (are) Birth Control ?

Answer: Birth control, also known as contraception, is designed to prevent pregnancy. Birth control methods may work in a number of different ways:       - Preventing sperm from getting to the eggs. Types include condoms, diaphragms, cervical caps, and contraceptive sponges.    - Keeping the woman's ovaries from releasing eggs that could be fertilized. Types include birth control pills, patches, shots, vaginal rings, and emergency contraceptive pills.    - IUDs, devices which are implanted into the uterus. They can be kept in place for several years.    - Sterilization, which permanently prevents a woman from getting pregnant or a man from being able to get a woman pregnant        Your choice of birth control should depend on several factors. These include your health, frequency of sexual activity, number of sexual partners and desire to have children in the future. Your health care provider can help you select the best form of birth control for you.    NIH: National Institute of Child Health and Human Development
Question: What is (are) Amyotrophic Lateral Sclerosis ?

Answer: Amyotrophic lateral sclerosis (ALS) is a nervous system disease that attacks nerve cells called neurons in your brain and spinal cord. These neurons transmit messages from your brain and spinal cord to your voluntary muscles - the ones you can control, like in your arms and legs. At first, this causes mild muscle problems. Some people notice       -  Trouble walking or running     -  Trouble writing     -  Speech problems       Eventually, you lose your strength and cannot move. When muscles in your chest fail, you cannot breathe. A breathing machine can help, but most people with ALS die from respiratory failure.     The disease usually strikes between age 40 and 60. More men than women get it. No one knows what causes ALS. It can run in families, but usually it strikes at random. There is no cure. Medicines can relieve symptoms and, sometimes, prolong survival.     NIH: National Institute of Neurological Disorders and Stroke
Question: How to diagnose Congenital sucrase-isomaltase deficiency ?

Answer: How is congenital sucrase-isomaltase deficiency (CSID) diagnosed? CSID can be diagnosed through clinical evaluation, detailed patient history, and tolerance lab tests. Blood tests can be done to look for a flat serum glucose curve after patients are given a dose of sucrose. In addition, blood and urine samples may test positive for sucrose, maltose, or palatinose (a form of maltose) if used during tolerance testing. The feces may also show sucrose, glucose, and fructose, and an acid pH level of below 5.0 or 6.0.  CSID can be confirmed by taking a small sample of tissue (biopsy) from the small intestine and measuring the activity of the enzyme called sucrase-isomaltase. Other tests may include a sucrose hydrogen breath test in which an abnormally high level of hydrogen will be detected in the breath of an affected individual after sucrose ingestion.
Question: What is (are) Fabry disease ?

Answer: Fabry disease is an inherited disorder that results from the buildup of a particular type of fat in the body's cells, called globotriaosylceramide or GL-3. Fabry disease affects many parts of the body. Signs and symptoms may include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); and hearing loss. Potentially severe complications can include progressive kidney damage, heart attack, and stroke. Milder forms of the disorder may appear later in life and affect only the heart or kidneys. Fabry disease is caused by mutations in the GLA gene and is inherited in an X-linked manner. Treatment may include enzyme replacement therapy (ERT); pain medications, ACE inhibitors; and chronic hemodialysis or renal transplantation for end stage renal disease.
Question: How to diagnose Hypohidrotic ectodermal dysplasia ?

Answer: Is genetic testing available for hypohidrotic ectodermal dysplasia? Yes. Genetic testing for hypohidrotic ectodermal dysplasia is available. In most cases, hypohidrotic ectodermal dysplasia can be diagnosed after infancy based upon the physical features in the affected child. Genetic testing may be ordered to confirm the diagnosis. Other reasons for testing may include to identify carriers or for prenatal diagnosis. Clinical testing is available for detection of disease causing mutations in the EDA, EDAR, and EDARADD genes. We recommend that you speak with a health care provider or a genetics professional to learn more about your testing options. The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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: How to diagnose Wolfram syndrome ?

Answer: How is Wolfram syndrome diagnosed? A diagnosis of Wolfram syndrome is based on the presence of characteristic signs and symptoms. The identification of a change (mutation) in the WFS1 gene or CISD2 gene confirms the diagnosis. Is genetic testing available for Wolfram syndrome? Yes. Clinical genetic testing is available for changes (mutations) in WFS1 and CISD2, the two genes known to cause Wolfram syndrome type 1 and Wolfram syndrome type 2, respectively. Carrier testing for at-risk relatives and prenatal testing are possible if the two disease-causing mutations in the family are known. The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. It offers information on genetic testing for Wolfram syndrome type 1 and Wolfram syndrome type 2. 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 is (are) Crigler Najjar syndrome, type 2 ?

Answer: Crigler Najjar syndrome, type 2 is caused by mutations in the UGT1A1 gene. The gene mutation causes the body to be unable to make adequate enzyme to convert bilirubin into a form that can easily be removed from the body. Without this enzyme, bilirubin can build up in the body and lead to extraordinarily yellow skin and eyes (jaundice). This condition is less severe than the type 1 form, however the severity of type II can vary greatly. Almost all patients with Crigler Najjar syndrome, type 2 develop normally, but there is a risk for some neurologic damage from kernicterus (bilirubin accumulation in the brain). In general people with type 2 Crigler Najjar syndrome have serum bilirubin levels ranging from 20 to 45 mg/dL. Phenobarbital treatment is the standard therapy for this condition and can often help to drastically reduce the bilirubin levels.
Question: How to diagnose Cold agglutinin disease ?

Answer: How is cold agglutinin disease diagnosed? A diagnosis of cold agglutinin disease may be made after several types of tests are performed by a health care provider. In some cases, the diagnosis is first suspected by chance if a routine complete blood count (CBC) detects abnormal clumping (agglutination) of the red blood cells. In most cases, the diagnosis is based on evidence of hemolytic anemia (from symptoms and/or blood tests). A person may also be physically examined for spleen or liver enlargement. An antiglobulin test (called the Coombs test) may be performed to determine the presence of a specific type of antibody. In people with cold agglutinin disease, the Coomb's test is almost always positive for immunoglobulin M (IgM). Detailed information about the various tests used to make a diagnosis of cold agglutinin disease is available on Medscape Reference's Web site. Please click on the link to access this resource.
Question: What is (are) Stenotrophomonas maltophilia infection ?

Answer: Stenotrophomonas maltophilia (S. maltophilia) infection is a healthcare-associated bacterial infection caused by S. maltophilia bacteria. These bacteria typically colonize (live in or on) areas of the body without causing infection. However, people who are hospitalized and receiving treatment for other conditions may be susceptible to infection, especially those with severely impaired immune systems. Factors that increase the risk for S. maltophilia infection include admission to an intensive care unit, prolonged hospitalization, HIV infection, cancer, cystic fibrosis, neutropenia, recent surgery, trauma, mechanical ventilation, and previous therapy with broad-spectrum antibiotics (medications that target a wide range of bacteria). S. maltophilia bacteria are resistant to many types of antibiotics; however, most strains can be treated with trimethoprim-sulfamethoxazole treatment.
Question: What causes GM1 gangliosidosis ?

Answer: What causes GM1 gangliosidosis? All three types of GM1 gangliosidosis are caused by mutations (changes) in the GLB1 gene. This gene gives the body instructions to make an enzyme called beta-galactosidase (-galactosidase), which plays an important role in the brain. The enzyme resides in compartments within cells called lysosomes, where it helps break down certain molecules, including a substance called GM1 ganglioside. GM1 ganglioside is important for nerve cell function in the brain. Mutations in the GLB1 gene may lower or eliminate the activity of the -galactosidase enzyme, keeping GM1 ganglioside from being broken down. As a result, it accumulates to toxic levels in tissues and organs, particularly in the brain. This accumulation leads to the destruction of nerve cells, causing the features of the condition. In general, people with higher enzyme activity levels usually have milder features than those with lower activity levels.
Question: What is (are) Trisomy 2 mosaicism ?

Answer: Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a persons cells. Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. In live born infants, signs and symptoms vary widely but generally include poor growth of the baby while in the womb and multiple birth defects.  Trisomy 2 mosaicism may be encountered during pregnancy as a finding following chorionic villus sampling. In these situations the trisomic cells are most often confined to the placenta and the pregnancy results in a healthy infant. Further investigation is warranted however, because in a small percentage of cases this finding is associated with an increased risk for intrauterine growth restriction  and oligohydramnios. Questions regarding trisomy 2 mosaicism should be discussed with a genetic professional. Click here to visit GeneTests to search for a genetics professional near you.
Question: What are the treatments for Primary hyperoxaluria type 2 ?

Answer: How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following transplantation, with recurrence being a real possibility since hyperoxaluria and elevated L-glycerate levels persist. Careful management in the postoperative period, with attention to brisk urine output and use of calcium oxalate urinary inhibitors may help prevent complications. To date, liver-kidney transplantation has not been used in primary hyperoxaluria type 2. This strategy may be considered, however, as there is more enzyme in the liver than in other tissues. More studies are needed before liver transplantation can be recommended. Other treatment modalities needing further investigation include liver cell transplantation and recombinant gene therapy to replace the missing enzyme.
Question: What causes Craniometaphyseal dysplasia, autosomal recessive type ?

Answer: What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communication by forming channels, or gap junctions, between cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin43 is found in many human tissues, including eyes, skin, bine, ears, heart, and brain. Mutations in the GJA1 gene that cause autosomal recessive craniometaphyseal dysplasia appear to disrupt bone remodeling. The exact mechanism involved is yet to be determined.
Question: What is (are) Antley Bixler syndrome ?

Answer: Antley Bixler syndrome is a rare condition that is primarily characterized by craniofacial abnormalities and other skeletal problems. The signs and symptoms vary significantly from person to person but may include craniosynostosis; midface hypoplasia (underdeveloped middle region of the face); frontal bossing; protruding eyes; low-set, unusually-formed ears; choanal atresia or stenosis (narrowing); fusion of adjacent arm bones (synostosis); joint contractures; arachnodactyly; bowing of the thigh bones; and/or urogenital (urinary tract and genital) abnormalities. The exact underlying cause of Antley Bixler syndrome is unknown in many cases; however, some are due to changes (mutations) in the FGFR2 gene or the POR gene. There appear to be autosomal dominant and autosomal recessive forms of the condition. Treatment is based on the signs and symptoms present in each person.
Question: What is (are) Koolen de Vries syndrome ?

Answer: Koolen de Vries syndrome, formerly known as 17q21.31 microdeletion syndrome, is a condition caused by a small deletion of genetic material from chromosome 17. The deletion occurs at a location designated as q21.31. People with 17q21.31 microdeletion syndrome may have developmental delay, intellectual disability, seizures, hypotonia. distinctive facial features, and vision problems. Some affected individuals have heart defects, kidney problems, and skeletal anomalies such as foot deformities. Typically their disposition is described as cheerful, sociable, and cooperative. The exact size of the deletion varies among affected individuals, but it contains at least six genes. This deletion affects one of the two copies of chromosome 17 in each cell. The signs and symptoms of 17q21.31 microdeletion syndrome are probably related to the loss of one or more genes in this region.
Question: What are the treatments for Parasites - Enterobiasis (also known as Pinworm Infection) ?

Answer: The medications used for the treatment of pinworm are mebendazole, pyrantel pamoate, and albendazole. All three of these drugs are to be given in 1 dose at first and then another single dose 2 weeks later. Pyrantel pamoate is available without prescription. The medication does not reliably kill pinworm eggs. Therefore, the second dose is to prevent re-infection by adult worms that hatch from any eggs not killed by the first treatment.Health practitioners and parents should weigh the health risks and benefits of these drugs for patients under 2 years of age.
    
Repeated infections should be treated by the same method as the first infection. In households where more than one member is infected or where repeated, symptomatic infections occur, it is recommended that all household members be treated at the same time. In institutions, mass and simultaneous treatment, repeated in 2 weeks, can be effective.
Question: How to diagnose Parasites - Loiasis ?

Answer: In people who have been bitten by the flies that carry Loa loa in areas where Loa loa is known to exist, the diagnosis can be made in the following ways:
  
   - Identification of the adult worm by a microbiologist or pathologist after its removal from under the skin or eye
   - Identification of an adult worm in the eye by a health care provider
   - Identification of the microfilariae on a blood smear made from blood taken from the patient between 10AM and 2PM
   - Identification of antibodies against L. loa on specialized blood test
  
  
Diagnosis of loiasis can be difficult, especially in light infections where there are very few microfilariae in the blood. The specialized blood test is not widely available in the United States. A positive antibody blood test in someone with no symptoms means only that the person was infected sometime in his/her life. It does not mean that the person still has living parasites in his/her body.
Question: What is (are) Chorea ?

Answer: Chorea is an abnormal involuntary movement disorder, one of a group of neurological disorders called dyskinesias, which are caused by overactivity of the neurotransmitter dopamine in the areas of the brain that control movement. Chorea is characterized by brief, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next. Chorea often occurs with athetosis, which adds twisting and writhing movements. Chorea is a primary feature of Huntington's disease, a progressive, hereditary movement disorder that appears in adults, but it may also occur in a variety of other conditions. Syndenham's chorea occurs in a small percentage (20 percent) of children and adolescents as a complication of rheumatic fever. Chorea can also be induced by drugs (levodopa, anti-convulsants, and anti-psychotics) metabolic and endocrine disorders, and vascular incidents.
Question: What are the treatments for Adrenoleukodystrophy ?

Answer: Adrenal function must be tested periodically in all patients with ALD. Treatment with adrenal hormones can be lifesaving. Symptomatic and supportive treatments for ALD include physical therapy, psychological support, and special education. Recent evidence suggests that a mixture of oleic acid and erucic acid, known as "Lorenzo's Oil," administered to boys with X-ALD prior to symptom onset can prevent or delay the appearance of the childhood cerebral form It is not known whether Lorenzo's Oil will have any beneficial effects in AMN. Furthermore, Lorenzo's Oil has no beneficial effect in symptomatic boys with X-ALD. Bone marrow transplantations can provide long-term benefit to boys who have early evidence of the childhood cerebral form of X-ALD, but the procedure carries risk of mortality and morbidity and is not recommended for those whose symptoms are already severe or who have the adult-onset or neonatal forms.
Question: What is (are) Hemifacial Spasm ?

Answer: Hemifacial spasm is a neuromuscular disorder characterized by frequent involuntary contractions (spasms) of the muscles on one side (hemi-) of the face (facial). The disorder occurs in both men and women, although it more frequently affects middle-aged or elderly women. It is much more common in the Asian population. The first symptom is usually an intermittent twitching of the eyelid muscle that can lead to forced closure of the eye. The spasm may then gradually spread to involve the muscles of the lower face, which may cause the mouth to be pulled to one side. Eventually the spasms involve all of the muscles on one side of the face almost continuously. The condition may be caused by a facial nerve injury, or a tumor, or it may have no apparent cause. Rarely, doctors see individuals with spasm on both sides of the face. Most often hemifacial spasm is caused by a blood vessel pressing on the facial nerve at the place where it exits the brainstem.