umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Lucey-Driscoll syndrome ?

Answer: Lucey-Driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. Babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. It occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  If untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. Treatment for Lucey-Driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. Different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition.
Question: What are the treatments for Juvenile amyotrophic lateral sclerosis ?

Answer: How might juvenile amyotrophic lateral sclerosis be treated? Treatments and therapies are available to relieve symptoms and improve the quality of life of people with juvenile ALS. Medications, such as those that reduce fatigue and ease muscle cramps are available. Physical therapy and special equipment can be helpful. Multidisciplinary teams of health care professionals such as physicians; pharmacists; physical, occupational, and speech therapists; nutritionists; and social workers can help to develop personalized treatment plans. While the Food and Drug Administration (FDA) has approved riluzole (Rilutek) for treatment of ALS, we found limited information regarding its use for juvenile ALS. We recommend that you discuss any questions regarding the risk/benefits of this drug with your healthcare provider.
Question: What is (are) Werner's syndrome ?

Answer: Werner's syndrome is a disease chiefly characterized by premature aging and cancer predisposition. Development is typically normal until the end of the first decade; the first sign is the lack of a growth spurt during puberty. Early signs (usually in the 20s) include loss and graying of hair, hoarseness, and scleroderma-like skin changes, followed by cataracts, type 2 diabetes mellitus, hypogonadism, skin ulcers, and osteoporosis in the 30s. Myocardial infarction (heart attack) and cancer are the most common causes of death, which typically occurs in the late 40s. It is caused by mutations in the WRN gene and is inherited in an autosomal recessive manner. Management focuses on treatment of signs and symptoms and prevention of secondary complications.
Question: What is (are) Sclerosing mucoepidermoid carcinoma with eosinophilia ?

Answer: Sclerosing mucoepidermoid carcinoma with eosinophilia (SMECE) is a type of cancer that most commonly affects the thyroid gland, but has been reported in the salivary gland as well. Signs and symptoms include a painless neck mass. Many people with mucoepidermoid carcinomas are women with Hashimoto's thyroiditis. The prevalence of SMECE is unknown, but only around 50 cases have been described in the medical literature. SMECE most commonly presents between 40 to 75 years of age. SMECE was initially considered a "low-grade" tumor, however cases of SMECE spreading locally to lymph nodes and to distant organs have been described. While data is limited, with treatment it appears that prognosis is typically good.
Question: What is (are) SHORT syndrome ?

Answer: SHORT syndrome is a condition characterized by multiple abnormalities that affect several parts of the body. The term SHORT is an acronym with each letter representing a common feature in affected individuals: (S) short stature; (H) hyperextensibility of joints and/or hernia (inguinal); (O) ocular depression (deep-set eyes); (R) Rieger anomaly (defective development of the anterior chamber of the eye that can lead to glaucoma); and (T) teething delay. Other features commonly present include a triangular face, small chin with a dimple, loss of fat under the skin (lipodystrophy), abnormal position of the ears, hearing loss and delayed speech. It is caused by mutations in the PIK3R1 gene. Inheritance is autosomal dominant. Treatment focuses on the specific symptoms present in each individual.
Question: What is (are) N-acetylglutamate synthetase deficiency ?

Answer: N-acetylglutamate synthase deficiency is type of urea cycle disorder. It causes toxic levels of ammonia to accumulate in the blood. Signs and symptoms in newborns may include a lack of energy, unwillingness to eat, seizures, unusual body movements, and poorly controlled breathing or body temperature. Complications may include coma, developmental delay, and learning disability. Some people have a less severe form of the deficiency with earliest symptoms manifesting later in life, particularly following high-protein meals, illness, or other stress. Signs and symptoms may include sudden vomiting, lack of coordination, confusion, and coma. N-acetylglutamate synthase deficiency is caused by mutations in the NAGS gene and is inherited in an autosomal recessive fashion.
Question: What is (are) Wandering spleen ?

Answer: Wandering spleen is a rare condition that occurs when the spleen lacks one or more of the ligments that hold the spleen in its normal position in the upper left abdomen. If a person is born with this condition it is referred to as congenital wandering spleen. The condition is not hereditary. Acquired wandering spleen may occur during adulthood due to injuries or other underlying conditions that may weaken the ligaments that hold the spleen. Symptoms of wandering spleen may include englargement of the spleen (splenomegaly), abdominal pain, intestinal obstruction, nausea, vomiting, fever, and a lump in the abdomen or the pelvis. Some individuals with this condition do not have symptoms. Treatment for this condition involes removal of the spleen (splenectomy).
Question: How to diagnose Parasites - Leishmaniasis ?

Answer: Various laboratory methods can be used to diagnose leishmaniasis—to detect the parasite as well as to identify the Leishmania species (type). Some of the methods are available only in reference laboratories. In the United States, CDC staff can assist with the testing for leishmaniasis.
    
Tissue specimens—such as from skin sores (for cutaneous leishmaniasis) or from bone marrow (for visceral leishmaniasis)—can be examined for the parasite under a microscope, in special cultures, and in other ways. Blood tests that detect antibody (an immune response) to the parasite can be helpful for cases of visceral leishmaniasis; tests to look for the parasite itself usually also are done.
    
More on: Resources for Health Professionals: Diagnosis
Question: What are the treatments for proopiomelanocortin deficiency ?

Answer: These resources address the diagnosis or management of proopiomelanocortin deficiency:  - Eunice Kennedy Shriver National Institute of Child Health and Human Development: How are Obesity and Overweight Diagnosed?  - Gene Review: Gene Review: Proopiomelanocortin Deficiency  - Genetic Testing Registry: Proopiomelanocortin deficiency  - MedlinePlus Encyclopedia: ACTH  - National Heart Lung and Blood Institute: How Are Overweight and Obesity Treated?  - National Institutes of Health Clinical Center: Managing Adrenal Insufficiency   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 treatments for familial acute myeloid leukemia with mutated CEBPA ?

Answer: These resources address the diagnosis or management of familial acute myeloid leukemia with mutated CEBPA:  - Fred Hutchison Cancer Research Center  - Gene Review: Gene Review: CEBPA-Associated Familial Acute Myeloid Leukemia (AML)  - Genetic Testing Registry: Acute myeloid leukemia  - MedlinePlus Encyclopedia: Bone Marrow Biopsy  - MedlinePlus Encyclopedia: Bone Marrow Transplant  - National Cancer Institute: Acute Myeloid Leukemia Treatment  - St. Jude Children's Research Hospital   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 glutamate formiminotransferase deficiency ?

Answer: Mutations in the FTCD gene cause glutamate formiminotransferase deficiency. The FTCD gene provides instructions for making the enzyme formiminotransferase cyclodeaminase. This enzyme is involved in the last two steps in the breakdown (metabolism) of the amino acid histidine, a building block of most proteins. It also plays a role in producing one of several forms of the vitamin folate, which has many important functions in the body.  FTCD gene mutations that cause glutamate formiminotransferase deficiency reduce or eliminate the function of the enzyme. It is unclear how these changes are related to the specific health problems associated with the mild and severe forms of glutamate formiminotransferase deficiency, or why individuals are affected by one form or the other.
Question: What are the genetic changes related to aceruloplasminemia ?

Answer: Mutations in the CP gene cause aceruloplasminemia. The CP gene provides instructions for making a protein called ceruloplasmin, which is involved in iron transport and processing. Ceruloplasmin helps move iron from the organs and tissues of the body and prepares it for incorporation into a molecule called transferrin, which transports it to red blood cells to help carry oxygen.  CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or they prevent the protein from being released (secreted) by the cells in which it is made. When ceruloplasmin is unavailable, transport of iron out of the body's tissues is impaired. The resulting iron accumulation damages cells in those tissues, leading to neurological dysfunction, and the other health problems seen in aceruloplasminemia.
Question: What are the genetic changes related to deafness-dystonia-optic neuronopathy syndrome ?

Answer: Mutations in the TIMM8A gene cause DDON syndrome. The protein produced from this gene is found inside the energy-producing centers of cells (mitochondria). The TIMM8A protein forms a complex (a group of proteins that work together) with a very similar protein called TIMM13. This complex functions by transporting other proteins within the mitochondria.  Most mutations in the TIMM8A gene result in the absence of functional TIMM8A protein inside the mitochondria, which prevents the formation of the TIMM8A/TIMM13 complex. Researchers believe that the lack of this complex leads to abnormal protein transport, although it is unclear how abnormal protein transport affects the function of the mitochondria and causes the signs and symptoms of DDON syndrome.
Question: How many people are affected by juvenile idiopathic arthritis ?

Answer: The incidence of juvenile idiopathic arthritis in North America and Europe is estimated to be 4 to 16 in 10,000 children. One in 1,000, or approximately 294,000, children in the United States are affected. The most common type of juvenile idiopathic arthritis in the United States is oligoarticular juvenile idiopathic arthritis, which accounts for about half of all cases. For reasons that are unclear, females seem to be affected with juvenile idiopathic arthritis somewhat more frequently than males. However, in enthesitis-related juvenile idiopathic arthritis males are affected more often than females. The incidence of juvenile idiopathic arthritis varies across different populations and ethnic groups.
Question: What are the treatments for myoclonic epilepsy with ragged-red fibers ?

Answer: These resources address the diagnosis or management of MERRF:  - Gene Review: Gene Review: MERRF  - Genetic Testing Registry: Myoclonus with epilepsy with ragged red fibers  - Kennedy Krieger Institute: Mitochondrial Disorders  - MedlinePlus Encyclopedia: Lipoma  - MedlinePlus Encyclopedia: Optic nerve atrophy  - MedlinePlus Encyclopedia: Peripheral Neuropathy  - MitoAction: Tips and Tools for Living with Mito  - United Mitochondrial Disease Foundation: Treatments and Therapies   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 is (are) GM2-gangliosidosis, AB variant ?

Answer: GM2-gangliosidosis, AB variant is a rare inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.  Signs and symptoms of the AB variant become apparent in infancy. Infants with this disorder typically appear normal until the age of 3 to 6 months, when their development slows and muscles used for movement weaken. Affected infants lose motor skills such as turning over, sitting, and crawling. They also develop an exaggerated startle reaction to loud noises. As the disease progresses, children with the AB variant experience seizures, vision and hearing loss, intellectual disability, and paralysis. An eye abnormality called a cherry-red spot, which can be identified with an eye examination, is characteristic of this disorder. Children with the AB variant usually live only into early childhood.
Question: What are the treatments for dopa-responsive dystonia ?

Answer: These resources address the diagnosis or management of dopa-responsive dystonia:  - Dartmouth-Hitchcock Children's Hospital at Dartmouth  - Gene Review: Gene Review: Dystonia Overview  - Gene Review: Gene Review: GTP Cyclohydrolase 1-Deficient Dopa-Responsive Dystonia  - Genetic Testing Registry: Dystonia 5, Dopa-responsive type  - Genetic Testing Registry: Segawa syndrome, autosomal recessive  - Genetic Testing Registry: Sepiapterin reductase deficiency   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 treatments for epidermolysis bullosa with pyloric atresia ?

Answer: These resources address the diagnosis or management of epidermolysis bullosa with pyloric atresia:  - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center  - Gene Review: Gene Review: Epidermolysis Bullosa with Pyloric Atresia  - Genetic Testing Registry: Epidermolysis bullosa simplex with pyloric atresia  - Genetic Testing Registry: Epidermolysis bullosa with pyloric atresia  - MedlinePlus Encyclopedia: Epidermolysis Bullosa   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 argininosuccinic aciduria ?

Answer: Mutations in the ASL gene cause argininosuccinic aciduria.  Argininosuccinic aciduria belongs to a class of genetic diseases called urea cycle disorders. The urea cycle is a sequence of reactions that occur in liver cells. It processes excess nitrogen, generated when protein is used by the body, to make a compound called urea that is excreted by the kidneys.  In argininosuccinic aciduria, the enzyme that starts a specific reaction within the urea cycle is damaged or missing. The urea cycle cannot proceed normally, and nitrogen accumulates in the bloodstream in the form of ammonia.  Ammonia is especially damaging to the nervous system, so argininosuccinic aciduria causes neurological problems as well as eventual damage to the liver.
Question: What is (are) Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List ?

Answer: Health Alert: Adrenal Crisis Causes Death in Some People Who Were Treated with Human Growth Hormone
                
National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Summary)
                
National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report)
                
Creutzfeldt-Jakob Disease. Fact sheet of the National Institute of Neurological Disorders and Stroke, National Institutes of Health (NIH)
                
NIH and Italian Scientists Develop Nasal Test for Human Prion Disease
                
What is a prion?from Scientific American: Ask the Experts
Question: What is (are) Prostate Enlargement: Benign Prostatic Hyperplasia ?

Answer: The prostate is a walnut-shaped gland that is part of the male reproductive system. The main function of the prostate is to make a fluid that goes into semen. Prostate fluid is essential for a mans fertility. The gland surrounds the urethra at the neck of the bladder. The bladder neck is the area where the urethra joins the bladder. The bladder and urethra are parts of the lower urinary tract. The prostate has two or more lobes, or sections, enclosed by an outer layer of tissue, and it is in front of the rectum, just below the bladder. The urethra is the tube that carries urine from the bladder to the outside of the body. In men, the urethra also carries semen out through the penis.
Question: What is (are) Medicare and Continuing Care ?

Answer: Some people think that Medicare and Medicaid are the same. Actually, they are two different programs. Medicaid is a state-run program that provides hospital and medical coverage for people with low income and little or no resources. Each state has its own rules about who is eligible and what is covered under Medicaid. Some people qualify for both Medicare and Medicaid. If you have questions about Medicaid, you can call your State Medical Assistance (Medicaid) office for more information. Visit  http://www.medicare.gov on the web. (Under "Search Tools," select "Find Helpful Phone Numbers and Websites.") Or, call 1-800-Medicare (1-800-633-4227) to get the telephone number. TTY users should call 1-877-486-2048.
Question: what research (or clinical trials) is being done for Alzheimer's Disease ?

Answer: Translational research grows out of basic research. It creates new medicines, devices, or behavioral interventions aimed at preventing, diagnosing, or treating a disease. An important goal of Alzheimers translational research is to increase the number and variety of potential new medicines and other interventions that are approved for testing in humans. Scientists also examine medicines approved to treat other diseases to see they might be effective in people with Alzheimers. The most promising interventions are tested in test-tube and animal studies to make sure they are safe and effective. Currently, a number of different substances are under development that may one day be used to treat the symptoms of Alzheimers disease or mild cognitive impairment. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research.
Question: Do you have information about Antidepressants

Answer: Summary : Antidepressants are medicines that treat depression. Your doctor can prescribe them for you. They work to balance some of the natural chemicals in our brains. It may take several weeks for them to help. There are several types of antidepressants. You and your doctor may have to try a few before finding what works best for you.    Antidepressants may cause mild side effects that usually do not last long. These may include headache, nausea, sleep problems, restlessness, and sexual problems. Tell your doctor if you have any side effects. You should also let your doctor know if you take any other medicines, vitamins, or herbal supplements.    It is important to keep taking your medicines, even if you feel better. Do not stop taking your medicines without talking to your doctor. You often need to stop antidepressants gradually.    NIH: National Institute of Mental Health
Question: Do you have information about Mastectomy

Answer: Summary : A mastectomy is surgery to remove a breast or part of a breast. It is usually done to treat breast cancer. Types of breast surgery include       - Total (simple) mastectomy - removal of breast tissue and nipple    - Modified radical mastectomy - removal of the breast, most of the lymph nodes under the arm, and often the lining over the chest muscles    - Lumpectomy - surgery to remove the tumor and a small amount of normal tissue around it       Which surgery you have depends on the stage of cancer, size of the tumor, size of the breast, and whether the lymph nodes are involved. Many women have breast reconstruction to rebuild the breast after a mastectomy.    Sometimes mastectomy is done to prevent breast cancer. Only high-risk patients have this type of surgery.    NIH: National Cancer Institute
Question: What is (are) Snoring ?

Answer: Snoring is the sound you make when your breathing is blocked while you are asleep. The sound is caused by tissues at the top of your airway that strike each other and vibrate. Snoring is common, especially among older people and people who are overweight.    When severe, snoring can cause frequent awakenings at night and daytime sleepiness. It can disrupt your bed partner's sleep. Snoring can also be a sign of a serious sleep disorder called sleep apnea. You should see your health care provider if you are often tired during the day, don't feel that you sleep well, or wake up gasping.    To reduce snoring       - Lose weight if you are overweight. It may help, but thin people can snore, too.    - Cut down or avoid alcohol and other sedatives at bedtime    - Don't sleep flat on your back       NIH: National Institute on Aging
Question: What is (are) Norovirus Infections ?

Answer: Noroviruses are a group of related viruses. Infection with these viruses causes an illness called gastroenteritis, an inflammation of the stomach and intestines. It can spread from person to person, or through contaminated food or water. You can also get it if you touch a contaminated surface. Norovirus can be serious, especially for young children and older adults.    The most common symptoms of norovirus infection are       - Diarrhea    - Nausea and vomiting    - Stomach pain       Other symptoms may include fever, headache or body aches.    Treatment includes bed rest and lots of liquids to prevent dehydration. There is no specific medicine to treat norovirus infections.    Proper hand washing and safe food preparation may help prevent infections.    Centers for Disease Control and Prevention
Question: What is (are) Brain Diseases ?

Answer: The brain is the control center of the body. It controls thoughts, memory, speech, and movement. It regulates the function of many organs. When the brain is healthy, it works quickly and automatically. However, when problems occur, the results can be devastating.      Inflammation in the brain can lead to problems such as vision loss, weakness and paralysis. Loss of brain cells, which happens if you suffer a stroke, can affect your ability to think clearly. Brain tumors can also press on nerves and affect brain function. Some brain diseases are genetic. And we do not know what causes some brain diseases, such as Alzheimer's disease.    The symptoms of brain diseases vary widely depending on the specific problem. In some cases, damage is permanent. In other cases, treatments such as surgery, medicines, or physical therapy can correct the source of the problem or improve symptoms.