umarjan11/Medical-qna huggingface dataset:
Question: what research (or clinical trials) is being done for Cavernous Malformation ?

Answer: The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge about the brain and nervous system, and to use that knowledge to reduce the burden of neurological disease. Studies of cerebral cavernous malformations (CCMs) show that alterations in the function of structural proteins may also give rise to vascular malformations. Currently there is no therapy to prevent the development or progression of CCMs. NINDS-funded scientists have developed an animal model that studies two of the familial genes related to the development of CCMs. Research shows that the protein signaling pathway Rhoa/ROCK, which allows cells to communicate regarding the formation of cell structure, is involved in blood vessel activity/ and the flow of molecules and cells into and out of blood vessels. These scientists hypothesize that blocking ROCK activity will inhibit CCM development and hemorrhage, and possibly create a therapy for these malformations.
Question: What are the treatments for 8p11 myeloproliferative syndrome ?

Answer: These resources address the diagnosis or management of 8p11 myeloproliferative syndrome:  - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Diagnosis  - Cancer.Net from the American Society of Clinical Oncology: Acute Myeloid Leukemia Treatment Options  - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Diagnosis  - Cancer.Net from the American Society of Clinical Oncology: Non-Hodgkin Lymphoma Treatment Options  - Genetic Testing Registry: Chromosome 8p11 myeloproliferative syndrome   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: Is oculopharyngeal muscular dystrophy inherited ?

Answer: Most cases of oculopharyngeal muscular dystrophy are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. People with autosomal dominant oculopharyngeal muscular dystrophy have a mutation resulting in a PABPN1 protein with an expanded polyalanine tract of between 12 and 17 alanines.  Less commonly, oculopharyngeal muscular dystrophy can be inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. In autosomal recessive oculopharyngeal muscular dystrophy, PABPN1 mutations lead to a polyalanine tract that is 11 alanines long. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Question: Is choroideremia inherited ?

Answer: Choroideremia is inherited in an X-linked recessive pattern. The CHM gene is located on the X chromosome, which is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation must be present in both copies of the gene to cause the disorder. Males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.  In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a carrier. She can pass on the altered gene, but usually does not experience signs and symptoms of the disorder. Females who carry a CHM mutation may show small areas of cell loss within the retina that can be observed during a thorough eye examination. These changes can impair vision later in life.
Question: What are the genetic changes related to hereditary sensory and autonomic neuropathy type V ?

Answer: Mutations in the NGF gene cause HSAN5. The NGF gene provides instructions for making a protein called nerve growth factor beta (NGF) that is important in the development and survival of nerve cells (neurons), including sensory neurons. The NGF protein functions by attaching (binding) to its receptors, which are found on the surface of neurons. Binding of the NGF protein to its receptor transmits signals to the cell to grow and to mature and take on specialized functions (differentiate). This binding also blocks signals in the cell that initiate the process of self-destruction (apoptosis). Additionally, NGF signaling plays a role in pain sensation. Mutation of the NGF gene leads to the production of a protein that cannot bind to the receptor and does not transmit signals properly. Without the proper signaling, sensory neurons die and pain sensation is altered, resulting in the inability of people with HSAN5 to feel pain.
Question: What is (are) PDGFRB-associated chronic eosinophilic leukemia ?

Answer: PDGFRB-associated chronic eosinophilic leukemia is a type of cancer of blood-forming cells. It is characterized by an elevated number of white blood cells called eosinophils in the blood. These cells help fight infections by certain parasites and are involved in the inflammation associated with allergic reactions. However, these circumstances do not account for the increased number of eosinophils in PDGFRB-associated chronic eosinophilic leukemia. Some people with this condition have an increased number of other types of white blood cells, such as neutrophils or mast cells, in addition to eosinophils. People with this condition can have an enlarged spleen (splenomegaly) or enlarged liver (hepatomegaly). Some affected individuals develop skin rashes, likely as a result of an abnormal immune response due to the increased number of eosinophils.
Question: What are the treatments for ovarian cancer ?

Answer: These resources address the diagnosis or management of ovarian cancer:  - Dana-Farber Cancer Institute  - Familial Ovarian Cancer Registry  - Fred Hutchinson Cancer Research Center  - Gene Review: Gene Review: BRCA1 and BRCA2 Hereditary Breast/Ovarian Cancer  - Genetic Testing Registry: Hereditary breast and ovarian cancer syndrome  - Genetic Testing Registry: Ovarian cancer  - Genomics Education Programme (UK): Hereditary Breast and Ovarian Cancer  - M.D. Anderson Cancer Center  - MedlinePlus Encyclopedia: BRCA1 and BRCA2 Gene Testing  - MedlinePlus Encyclopedia: CA-125 Blood Test  - Memorial Sloan-Kettering Cancer Center   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) hypermethioninemia ?

Answer: Hypermethioninemia is an excess of a particular protein building block (amino acid), called methionine, in the blood. This condition can occur when methionine is not broken down (metabolized) properly in the body.  People with hypermethioninemia often do not show any symptoms. Some individuals with hypermethioninemia exhibit intellectual disability and other neurological problems; delays in motor skills such as standing or walking; sluggishness; muscle weakness; liver problems; unusual facial features; and their breath, sweat, or urine may have a smell resembling boiled cabbage.  Hypermethioninemia can occur with other metabolic disorders, such as homocystinuria, tyrosinemia and galactosemia, which also involve the faulty breakdown of particular molecules. It can also result from liver disease or excessive dietary intake of methionine from consuming large amounts of protein or a methionine-enriched infant formula.
Question: What are the treatments for asphyxiating thoracic dystrophy ?

Answer: These resources address the diagnosis or management of asphyxiating thoracic dystrophy:  - Genetic Testing Registry: Asphyxiating thoracic dystrophy 2  - Genetic Testing Registry: Asphyxiating thoracic dystrophy 4  - Genetic Testing Registry: Asphyxiating thoracic dystrophy 5  - Genetic Testing Registry: Jeune thoracic dystrophy  - Genetic Testing Registry: Short-rib thoracic dysplasia 1 with or without polydactyly  - Jeune's Center at Nationwide Children's Hospital  - MedlinePlus Encyclopedia: Chronic Renal Failure  - MedlinePlus Encyclopedia: Polydactyly   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 immune dysregulation, polyendocrinopathy, enteropathy, X-linked syndrome ?

Answer: Mutations in the FOXP3 gene cause some cases of IPEX syndrome. The protein produced from this gene is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. This protein is essential for the production and normal function of certain immune cells called regulatory T cells. Regulatory T cells play an important role in controlling the immune system and preventing autoimmune disorders. Mutations in the FOXP3 gene lead to reduced numbers or a complete absence of regulatory T cells. Without the proper number of regulatory T cells, the body cannot control immune responses. Normal body tissues and organs are attacked, causing the multiple autoimmune disorders present in people with IPEX syndrome.  About half of individuals diagnosed with IPEX syndrome do not have identified mutations in the FOXP3 gene. In these cases, the cause of the disorder is unknown.
Question: What is (are) ethylmalonic encephalopathy ?

Answer: Ethylmalonic encephalopathy is an inherited disorder that affects several body systems, particularly the nervous system. Neurologic signs and symptoms include progressively delayed development, weak muscle tone (hypotonia), seizures, and abnormal movements. The body's network of blood vessels (the vascular system) is also affected. Children with this disorder may experience rashes of tiny red spots (petechiae) caused by bleeding under the skin and blue discoloration in the hands and feet due to reduced oxygen in the blood (acrocyanosis). Chronic diarrhea is another common feature of ethylmalonic encephalopathy.  The signs and symptoms of ethylmalonic encephalopathy are apparent at birth or begin in the first few months of life. Problems with the nervous system typically worsen over time, and most affected individuals survive only into early childhood. A few children with a milder, chronic form of this disorder have been reported.
Question: What is (are) Kidney Stones in Children ?

Answer: The urinary tract is the bodys drainage system for removing wastes and extra water. The urinary tract includes two kidneys, two ureters, a bladder, and a urethra. The kidneys are a pair of bean-shaped organs, each about the size of a fist and located below the ribs, one on each side of the spine, toward the middle of the back. Every minute, a persons kidneys filter about 3 ounces of blood, removing wastes and extra water. The wastes and extra water make up the 1 to 2 quarts of urine an adult produces each day. Children produce less urine each day; the amount produced depends on their age. The urine travels from the kidneys down two narrow tubes called the ureters. The urine is then stored in a balloonlike organ called the bladder. When the bladder empties, urine flows out of the body through a tube called the urethra at the bottom of the bladder.
Question: What is (are) High Blood Pressure ?

Answer: "DASH" stands for "Dietary Approaches to Stop Hypertension." This is the name of a clinical study that tested the effects of nutrients in food on blood pressure. Study results indicated that you can reduce high blood pressure by following an eating plan that emphasizes fruits, vegetables, and fat-free or low-fat milk and milk products, and that is low in saturated fat, cholesterol, total fat, and added sugars. The DASH eating plan also includes whole grains, poultry, fish, and nuts, and has reduced amounts of red meats, sweets, added sugars, and beverages containing sugars. A second study, called "DASH-Sodium," showed that eating less salt also lowered blood pressure in people following either the DASH eating plan or the typical American diet. But those following DASH, especially those with high blood pressure, benefited the most. For more information on using the DASH eating plan, see  Your Guide to Lowering Your Blood Pressure with DASH.
Question: What is (are) Aneurysms ?

Answer: An aneurysm is a bulge or "ballooning" in the wall of an artery. Arteries are blood vessels that carry oxygen-rich blood from the heart to other parts of the body. If an aneurysm grows large, it can burst and cause dangerous bleeding or even death.     Most aneurysms occur in the aorta, the main artery that runs from the heart through the chest and abdomen. Aneurysms also can happen in arteries in the brain, heart and other parts of the body. If an aneurysm in the brain bursts, it causes a stroke.    Aneurysms can develop and become large before causing any symptoms. Often doctors can stop aneurysms from bursting if they find and treat them early. They use imaging tests to find aneurysms. Often aneurysms are found by chance during tests done for other reasons. Medicines and surgery are the two main treatments for aneurysms.     NIH: National Heart, Lung, and Blood Institute
Question: What is (are) Colonic Polyps ?

Answer: A polyp is an extra piece of tissue that grows inside your body. Colonic polyps grow in the large intestine, or colon. Most polyps are not dangerous. However, some polyps may turn into cancer or already be cancer. To be safe, doctors remove polyps and test them. Polyps can be removed when a doctor examines the inside of the large intestine during a colonoscopy.    Anyone can get polyps, but certain people are more likely than others. You may have a greater chance of getting polyps if you        -  Are over age 50     -  Have had polyps before     -  Have a family member with polyps     -  Have a family history of colon cancer        Most colon polyps do not cause symptoms. If you have symptoms, they may include blood on your underwear or on toilet paper after a bowel movement, blood in your stool, or constipation or diarrhea lasting more than a week.    NIH: National Institute of Diabetes and Digestive and Kidney Diseases
Question: What is (are) Yeast Infections ?

Answer: Candida is the scientific name for yeast. It is a fungus that lives almost everywhere, including in your body. Usually, your immune system keeps yeast under control. If you are sick or taking antibiotics, it can multiply and cause an infection.     Yeast infections affect different parts of the body in different ways:        - Thrush is a yeast infection that causes white patches in your mouth     - Candida esophagitis is thrush that spreads to your esophagus, the tube that takes food from your mouth to your stomach. It can make it hard or painful to swallow.     - Women can get vaginal yeast infections, causing itchiness, pain and discharge    - Yeast infections of the skin cause itching and rashes     - Yeast infections in your bloodstream can be life-threatening        Antifungal medicines get rid of yeast infections in most people. If you have a weak immune system, treatment might be more difficult.
Question: What is (are) Panic Disorder ?

Answer: Panic disorder is a type of anxiety disorder. It causes panic attacks, which are sudden feelings of terror when there is no real danger. You may feel as if you are losing control. You may also have physical symptoms, such as       - Fast heartbeat    - Chest or stomach pain    - Breathing difficulty    - Weakness or dizziness    - Sweating    - Feeling hot or a cold chill    - Tingly or numb hands       Panic attacks can happen anytime, anywhere, and without warning. You may live in fear of another attack and may avoid places where you have had an attack. For some people, fear takes over their lives and they cannot leave their homes.    Panic disorder is more common in women than men. It usually starts when people are young adults. Sometimes it starts when a person is under a lot of stress. Most people get better with treatment. Therapy can show you how to recognize and change your thinking patterns before they lead to panic. Medicines can also help.    NIH: National Institute of Mental Health
Question: What is (are) Carbon Monoxide Poisoning ?

Answer: Carbon monoxide (CO) is a gas that has no odor or color. But it is very dangerous. It can cause sudden illness and death. CO is found in combustion fumes, such as those made by cars and trucks, lanterns, stoves, gas ranges and heating systems. CO from these fumes can build up in places that don't have a good flow of fresh air. You can be poisoned by breathing them in. The most common symptoms of CO poisoning are       -  Headache    -  Dizziness    -  Weakness    -  Nausea    -  Vomiting    -  Chest pain    -  Confusion       It is often hard to tell if someone has CO poisoning, because the symptoms may be like those of other illnesses. People who are sleeping or intoxicated can die from CO poisoning before they have symptoms. A CO detector can warn you if you have high levels of CO in your home.     Centers for Disease Control and Prevention
Question: What are the treatments for Sideroblastic anemia ?

Answer: How might sideroblastic anemia be treated? The treatment of sideroblastic anemia is directed at controlling symptoms of anemia and preventing organ damage from iron overload. Many patients see improvement with increased vitamin B6 intake - either through diet (potatoes, bananas, raisin bran cereal, lentils, liver, turkey, and tuna are good sources) or supplements - with red blood cell counts returning to near-normal values. Folic acid supplementation may also be beneficial. Those that do not respond to vitamin supplementation require blood transfusion.  A few small studies have described the use of allogenic bone marrow or stem cell transplantation for hereditary and congenital forms of sideroblastic anemia. While these therapies may offer the possibility of a cure, the complications associated with transplantation surgery must be considered.  All patients with sideroblastic anemia should be followed by a hematologist and avoid alcohol.
Question: What is (are) Bilateral frontal polymicrogyria ?

Answer: Bilateral frontal polymicrogyria is one of the rarest subtypes of polymicrogyria. It is a symmetric and bilateral form (in both brain hemispheres) that only involves the frontal lobes without including the area located behind the Sylvius fissure or the area located behind the Rolando sulcus. Some researchers classify the condition into two different forms: bilateral frontal polymicrogyria and the bilateral frontoparietal. Signs and symptoms included delayed motor and language milestones; spastic (stiffness) hemiparesis (weakness in one side of the body) or quadriparesis (weakness in all four limbs of the body); and mild to moderate intellectual disability. Seizures may also be present. The frontoparietal form is caused by changes (mutations) in the GPR56 gene but the cause for the frontal form of polymicrogyira is still not known. Treatment is based on the signs and symptoms present in each person.
Question: What is (are) Lipoid proteinosis of Urbach and Wiethe ?

Answer: Lipoid proteinosis (LP) of Urbach and Wiethe is a rare condition that affects the skin and the brain. The signs and symptoms of this condition and the disease severity vary from person to person. The first sign of LP is usually a hoarse cry during infancy. Affected children then develop characteristic growths on the skin and mucus membranes in the first two years of life. Damage to the temporal lobes (the portions of the brain that process emotions and are important for short-term memory) occurs over time and can lead to seizures and intellectual disability. Other signs and symptoms may include hair loss, oligodontia, speech problems, frequent upper respiratory infections, difficulty swallowing, dystonia, and learning disabilities. LP is caused by changes (mutations) in the ECM1 gene and is inherited in an autosomal recessive manner. There is currently no cure for LP and treatment is based on the signs and symptoms present in each person.
Question: What is (are) Gamma aminobutyric acid transaminase deficiency ?

Answer: GABA (gamma-aminobutyric acid) is an important molecule which slows down the activity of cells in the brain.[1] GABA is broken down in the body by a substance known as 4-aminobutyrate aminotransferase, also known as GABA-transaminase or GABA-T.[1] Mutations in the ABAT gene can cause less GABA-T to be made, a condition known as GABA-T deficiency.[1] The symptoms for an individual with GABA-T deficiency can include: psychomotor retardation (a slowing down of thought and activity), low muscle tone, hyperactive responses, lethargy, seizures, and EEG abnormalities.[1] GABA-T deficiency is very rare, with fewer than 5 cases reported in the literature.[2] It is thought to be inherited in an autosomal recessive manner.[3][4]
Question: What is (are) Nonbullous congenital ichthyosiform erythroderma ?

Answer: Nonbullous congenital ichthyosiform erythroderma (NBCIE) is a specific type of ichthyosis mainly affecting the skin. Most infants with NBCIE are born with a tight, shiny covering on their skin, called a collodion membrane, which is typically shed within a few weeks. Other signs and symptoms include redness of the skin (erythroderma); fine, white scales on the skin; and thickening of the skin on the palms and soles of feet (palmoplantar keratoderma). Some people with NBCIE also have outward turning eyelids (ectropion); outward turning lips (eclabium); and nails that do not grow normally (nail dystrophy). NBCIE may be caused by mutations in any one of at least three genes: ALOX12B, ALOXE3 or NIPAL4. In some people with NBCIE, the cause of the disorder is unknown.
Question: What causes Subacute cerebellar degeneration ?

Answer: What causes subacute cerebellar degeneration? Subacute cerebellar degeneration may occur when the body's immune system attacks healthy tissue, either for unknown reasons or as an abnormal reaction to an underlying cancer. These cases are referred to as paraneoplastic cerebellar degeneration. Subacute cerebellar degeneration may also occur due to thiamine deficiency. Causes of thiamin deficiency include alcoholism, recurrent vomiting, gastric surgery, and diets poor in this B vitamin. These cases are referred to as alcoholic/nutritional cerebellar degeneration. For further information pertaining to the neurological effects of severe thiamine deficiency, see the following link to the Wernicke-Korsakoff syndrome resource page. http://rarediseases.info.nih.gov/gard/6843/wernicke-korsakoff-syndrome/Resources/1
Question: How to diagnose Reticulohistiocytoma ?

Answer: How is reticulohistiocytoma diagnosed? The diagnosis of reticulohistiocytoma (RH) is made based on clinical presentation, histology, and immunohistochemistry profile. RH occur in isolation and are typically described as small, yellow to reddish-born nodules. The lesions usually are slightly elevated from the surrounding skin. Detailed information on histology of reticulohistiocytoma is available through DermNet NZ, an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. There are several differential diagnoses for RH. It is important to distinguish RH from Rosai-Dorfman disease, juvenile xanthogranuloma, a variety of granulomatous conditions, and some malignant neoplasms, including histiocytic sarcoma, melanoma, and epithelioid sarcoma. Reticulohistiocytoma should also be distinguished from multicentric reticulohistiocytosis.