umarjan11/Medical-qna huggingface dataset:
Question: What causes Bartter syndrome ?

Answer: What causes Bartter syndrome? Bartter syndrome may be caused by mutations in any one of several genes; the genetic cause in each case corresponds to the type of Bartter syndrome each affected individual has. Types I, II and IV typically result in the antenatal forms of Bartter syndrome (beginning before birth) while type III results in classical Bartter syndrome (usually beginning in early childhood). Type I results from mutations in the SLC12A1 gene; type II from mutations in the KCNJ1 gene; type III from mutations in the CLCNKB gene; and type IV from mutations in the BSND gene, or from a combination of mutations in the CLCNKA and CLCNKB genes. In some people with Bartter syndrome, the genetic cause of the disorder remains unknown; there may be other genes that cause the condition that have not yet been identified. All of these genes are essential for normal kidney function - they are involved in the kidneys' abilities to reabsorb salt. Abnormal changes in these genes impair these abilities, allowing for the loss of excess salt through the urine and also affecting the reabsorption of other things including potassium and calcium. The resulting imbalance of these in the body lead to the signs and symptoms of Bartter syndrome.
Question: What causes Leukoencephalopathy with vanishing white matter ?

Answer: What causes leukoencephalopathy with vanishing white matter? Leukoencephalopathy with vanishing white matter is a genetic condition caused by mutations in any of 5 genes - EIF2B1, EIF2B2, EIF2B3, EIF2B4, and EIF2B5. These genes give the body instructions to make the five parts (subunits) of a protein called eIF2B. This protein helps regulate overall production of protein in cells (protein synthesis). Proper regulation of protein synthesis ensures that the correct levels of protein are available for cells to cope with changing conditions and stress. Mutations in any of these 5 genes results in partial loss of eIF2B function, making it more difficult for cells to regulate protein synthesis and deal with changing conditions and stress. Researchers believe that cells in the white matter may be particularly affected by an abnormal response to stress, thus causing the signs and symptoms of this condition. Approximately 90% of affected people have been found to have mutations in one of these 5 genes. Approximately 10% of families who have been diagnosed by MRI and clinical features do not have an identifiable mutation, suggesting that additional genes may also be responsible for the condition.
Question: What is (are) Congenital porphyria ?

Answer: Congenital erythropoietic porphyria (CEP) is the rarest porphyria and is commonly seen in infancy, although it may begin in adulthood.  It is characterized by severe skin photosensitivity that may lead to scarring, blistering, and increased hair growth at the face and back of the hands. Photosensitivity and infection may cause the loss of fingers and facial features. Symptoms of CEP range from mild to severe and may include hypertrichosis, reddish discoloration of the teeth, anemia, and reddish-colored urine. In CEP, there is a defect in the synthesis of heme within the red blood cells of bone marrow. This defect leads to an increase in the buildup and, therefore, waste of porphyrin and its precursors, which leads to the signs and symptoms. Treatment for CEP may include activated charcoal or a bone marrow transplant, which can improve the anemia and future blister or scar formations from photosensitivity. Blood transfusions or spleen removal may also reduce the amount of porphyrin produced from bone marrow. This condition is inherited in an autosomal recessive fashion and is caused by mutations in the UROS gene.
Question: What is (are) Adult neuronal ceroid lipofuscinosis ?

Answer: Adult neuronal ceroid lipofuscinosis is a rare condition that affects the nervous system. Signs and symptoms usually begin around age 30, but they can develop anytime between adolescence and late adulthood. There are two forms of adult neuronal ceroid lipofuscinosis that are differentiated by their underlying genetic cause, mode of inheritance and certain symptoms: Type A is characterized by a combination of seizures and uncontrollable muscle jerks (myoclonic epilepsy); dementia; difficulties with muscle coordination (ataxia); involuntary movements such as tremors or tics; and dysarthria. It is caused by changes (mutations) in the CLN6 or PPT1 gene and is inherited in an autosomal recessive manner. Type B shares many features with type A; however, affected people also experience behavioral abnormalities and do not develop myoclonic epilepsy or dysarthria. It can be caused by mutations in the DNAJC5 or CTSF gene and is inherited in an autosomal dominant manner. Treatment options for adult neuronal ceroid lipofuscinosis are limited to therapies that can help relieve some of the symptoms.
Question: What are the symptoms of Ainhum ?

Answer: What are the signs and symptoms of Ainhum? The Human Phenotype Ontology provides the following list of signs and symptoms for Ainhum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Amniotic constriction ring - Autosomal dominant inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Tracheoesophageal fistula ?

Answer: Tracheoesophageal fistula (TEF) is a life-threatening condition in which there is an abnormal connection between the esophagus and trachea (windpipe). The esophagus and trachea run next to each other through the chest cavity. The esophagus carries food and saliva to the stomach, while the trachea carries air to the lungs. TEF can lead to severe and fatal lung complications. Saliva and gastric secretions can be aspirated into the lungs, and normal swallowing and digestion of food cannot occur. Most affected people are diagnosed immediately after birth or during infancy. Symptoms may include frothy bubbles of mucus in the mouth and nose; episodes of coughing and choking; and worsening symptoms during feeding. TEF may be isolated, or it may occur with other physical or developmental abnormalities (most commonly, esophageal atresia). In many cases the cause is unknown but it has been associated with some chromosome disorders. In some cases it may be acquired later in life after a cancer, infection, ruptured diverticula, or trauma. Treatment includes immediate surgical repair with survival rates of almost 100%.
Question: What is (are) Neurological Sequelae Of Lupus ?

Answer: Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, nervous system, and blood vessels. The signs and symptoms of lupus differ from person to person; the disease can range from mild to life threatening.
                
Initial symptoms of lupus may begin with a fever, vascular headaches, epilepsy, or psychoses. A striking feature of lupus is a butterfly shaped rash over the cheeks. In addition to headache, lupus can cause other neurological disorders, such as mild cognitive dysfunction, organic brain syndrome, peripheral neuropathies, sensory neuropathy, psychological problems (including personality changes, paranoia, mania, and schizophrenia), seizures, transverse myelitis, and paralysis and stroke.
Question: What are the genetic changes related to T-cell immunodeficiency, congenital alopecia, and nail dystrophy ?

Answer: T-cell immunodeficiency, congenital alopecia, and nail dystrophy results from mutations in the FOXN1 gene. This gene provides instructions for making a protein that is important for development of the skin, hair, nails, and immune system. Studies suggest that this protein helps guide the formation of hair follicles and the growth of fingernails and toenails. The FOXN1 protein also plays a critical role in the formation of the thymus, which is a gland located behind the breastbone where T cells mature and become functional. Researchers suspect that the FOXN1 protein is also involved in the development of the central nervous system, although its role is unclear.  Mutations in the FOXN1 gene prevent cells from making any functional FOXN1 protein. Without this protein, hair and nails cannot grow normally. A lack of FOXN1 protein also prevents the formation of the thymus. When this gland is not present, the immune system cannot produce mature, functional T cells to fight infections. As a result, people with T-cell immunodeficiency, congenital alopecia, and nail dystrophy develop recurrent serious infections starting early in life.
Question: What are the genetic changes related to Klippel-Feil syndrome ?

Answer: Mutations in the GDF6, GDF3, or MEOX1 gene can cause Klippel-Feil syndrome. These genes are involved in proper bone development. The protein produced from the GDF6 gene is necessary for the formation of bones and joints, including those in the spine. While the protein produced from the GDF3 gene is known to be involved in bone development, its exact role is unclear. The protein produced from the MEOX1 gene, called homeobox protein MOX-1, regulates the process that begins separating vertebrae from one another during early development.  GDF6 and GDF3 gene mutations that cause Klippel-Feil syndrome likely lead to reduced function of the respective proteins. MEOX1 gene mutations lead to a complete lack of homeobox protein MOX-1. Although the GDF6, GDF3, and homeobox protein MOX-1 proteins are involved in bone development, particularly formation of vertebrae, it is unclear how a shortage of one of these proteins leads to incomplete separation of the cervical vertebrae in people with Klippel-Feil syndrome.  When Klippel-Feil syndrome is a feature of another disorder, it is caused by mutations in genes involved in the other disorder.
Question: What is (are) Mayer-Rokitansky-Kster-Hauser syndrome ?

Answer: Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome is a disorder that occurs in females and mainly affects the reproductive system. This condition causes the vagina and uterus to be underdeveloped or absent. Affected women usually do not have menstrual periods due to the absent uterus. Often, the first noticeable sign of MRKH syndrome is that menstruation does not begin by age 16 (primary amenorrhea). Women with MRKH syndrome have a female chromosome pattern (46,XX) and normally functioning ovaries. They also have normal female external genitalia and normal breast and pubic hair development. Although women with this condition are usually unable to carry a pregnancy, they may be able to have children through assisted reproduction.  Women with MRKH syndrome may also have abnormalities in other parts of the body. The kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Affected individuals commonly develop skeletal abnormalities, particularly of the spinal bones (vertebrae). Females with MRKH syndrome may also have hearing loss or heart defects.
Question: What are the genetic changes related to Barth syndrome ?

Answer: Mutations in the TAZ gene cause Barth syndrome. The TAZ gene provides instructions for making a protein called tafazzin. Tafazzin is located in structures called mitochondria, which are the energy-producing centers of cells. Tafazzin is involved in altering a fat (lipid) called cardiolipin, which plays critical roles in the mitochondrial inner membrane. Once altered by tafazzin, cardiolipin is key in maintaining mitochondrial shape, energy production, and protein transport within cells.  TAZ gene mutations result in the production of tafazzin proteins with little or no function. As a result, tafazzin cannot alter cardiolipin. A lack of functional cardiolipin impairs normal mitochondrial shape and functions. Tissues with high energy demands, such as the heart and skeletal muscles, are most susceptible to cell death due to reduced energy production in mitochondria. Additionally, abnormally shaped mitochondria are found in affected white blood cells, which could affect their ability to grow (proliferate) and mature (differentiate), leading to neutropenia. Dysfunctional mitochondria likely lead to other signs and symptoms of Barth syndrome.
Question: What is (are) hyperferritinemia-cataract syndrome ?

Answer: Hyperferritinemia-cataract syndrome is a disorder characterized by an excess of an iron storage protein called ferritin in the blood (hyperferritinemia) and tissues of the body. A buildup of this protein begins early in life, leading to clouding of the lenses of the eyes (cataracts). In affected individuals, cataracts usually develop in infancy, rather than after age 60 as typically occurs in the general population. Cataracts that are not removed surgically cause progressive dimming and blurriness of vision because the clouded lenses reduce and distort incoming light.  Although the hyperferritinemia in this disorder does not usually cause any health problems other than cataracts, the elevated ferritin levels in the blood can be mistaken for a sign of certain liver disorders. These conditions result in excess iron in the body and may be treated by blood-drawing. However, individuals with hyperferritinemia-cataract syndrome do not have an excess of iron, and with repeated blood draws will develop reduced iron levels leading to a low number of red blood cells (anemia). Therefore, correct diagnosis of hyperferritinemia-cataract syndrome is important to avoid unnecessary treatments or invasive test procedures such as liver biopsies.
Question: How to diagnose National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?

Answer: CJD is usually diagnosed based on signs and symptoms of the illness, how severe they are, and how quickly they become worse. However, doctors must study brain tissue from a biopsy or autopsy in order to make a definite diagnosis of CJD.
                
Other tests can suggest CJD. In 1996, researchers developed a test that helps doctors diagnose CJD in patients with symptoms. This test detects an abnormal protein in a sample of spinal fluid. When this protein is found, it helps make a diagnosis of CJD. It is much easier and safer to take a sample of spinal fluid than to do a brain biopsy. Unfortunately, this test cannot identify CJD in patients who do not have symptoms. The test cannot predict who may develop CJD in the future.
                
Researchers from many countries, including the United States, have reported success using MRI to diagnose CJD and vCJD in people with symptoms of the disease. MRI is a safe and painless tool that allows doctors to look at images of the brain and does not involve the collection of brain or spinal fluid samples.
Question: What is (are) Atypical Chronic Myelogenous Leukemia ?

Answer: Key Points
                    - Atypical chronic myelogenous leukemia is a disease in which too many granulocytes (immature white blood cells) are made in the bone marrow.    - Signs and symptoms of atypical chronic myelogenous leukemia include easy bruising or bleeding and feeling tired and weak.    - Certain factors affect prognosis (chance of recovery).
                
                
                    Atypical chronic myelogenous leukemia is a disease in which too many granulocytes (immature white blood cells) are made in the bone marrow.
                    In atypical chronic myelogenous leukemia (CML), the body tells too many blood stem cells to become a type of white blood cell called granulocytes. Some of these blood stem cells never become mature white blood cells. These immature white blood cells are called blasts. Over time, the granulocytes and blasts crowd out the red blood cells and platelets in the bone marrow.   The leukemia cells in atypical CML and CML look alike under a microscope. However, in atypical CML a certain chromosome change, called the "Philadelphia chromosome" is not there.
Question: What is (are) Ovarian Low Malignant Potential Tumors ?

Answer: Key Points
                    - Ovarian low malignant potential tumor is a disease in which abnormal cells form in the tissue covering the ovary.     - Signs and symptoms of ovarian low malignant potential tumor include pain or swelling in the abdomen.    - Tests that examine the ovaries are used to detect (find), diagnose, and stage ovarian low malignant potential tumor.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Ovarian low malignant potential tumor is a disease in which abnormal cells form in the tissue covering the ovary.
                    Ovarian low malignant potential tumors have abnormal cells that may become cancer, but usually do not. This disease usually remains in the ovary. When disease is found in one ovary, the other ovary should also be checked carefully for signs of disease.    The ovaries are a pair of organs in the female reproductive system. They are in the pelvis, one on each side of the uterus (the hollow, pear-shaped organ where a fetus grows). Each ovary is about the size and shape of an almond. The ovaries make eggs and female hormones.
Question: Who is at risk for Childhood Acute Myeloid Leukemia and Other Myeloid Malignancies? ?

Answer: The risk factors for childhood AML, childhood CML, JMML, and MDS are similar. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your childs doctor if you think your child may be at risk. These and other factors may increase the risk of childhood AML, childhood CML, JMML, and MDS:         - Having a brother or sister, especially a twin, with leukemia.    - Being Hispanic.    - Being exposed to cigarette smoke or alcohol before birth.     - Having a personal history of aplastic anemia.    - Having a personal or family history of MDS.    - Having a family history of AML.    - Past treatment with chemotherapy or radiation therapy.    - Being exposed to ionizing radiation or chemicals such as benzene.    - Having certain genetic disorders, such as:               - Down syndrome.      -  Fanconi anemia.      -  Neurofibromatosis type 1.      -  Noonan syndrome.      -  Shwachman-Diamond syndrome.
Question: What is (are) Psoriasis ?

Answer: Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get the patches on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people who have psoriasis also get a form of arthritis called psoriatic arthritis.    A problem with your immune system causes psoriasis. In a process called cell turnover, skin cells that grow deep in your skin rise to the surface. Normally, this takes a month. In psoriasis, it happens in just days because your cells rise too fast.     Psoriasis can be hard to diagnose because it can look like other skin diseases. Your doctor might need to look at a small skin sample under a microscope.    Psoriasis can last a long time, even a lifetime. Symptoms come and go. Things that make them worse include       - Infections    - Stress    - Dry skin    - Certain medicines       Psoriasis usually occurs in adults. It sometimes runs in families. Treatments include creams, medicines, and light therapy.    NIH: National Institute of Arthritis and Musculoskeletal and Skin Diseases
Question: What is (are) Vulvar Cancer ?

Answer: Vulvar cancer is a rare type of cancer. It forms in a woman's external genitals, called the vulva. The cancer usually grows slowly over several years. First, precancerous cells grow on vulvar skin. This is called vulvar intraepithelial neoplasia (VIN), or dysplasia. Not all VIN cases turn into cancer, but it is best to treat it early.    Often, vulvar cancer doesn't cause symptoms at first. However, see your doctor for testing if you notice       - A lump in the vulva    - Vulvar itching or tenderness    - Bleeding that is not your period    - Changes in the vulvar skin, such as color changes or growths that look like a wart or ulcer       You are at greater risk if you've had a human papillomavirus (HPV) infection or have a history of genital warts. Your health care provider diagnoses vulvar cancer with a physica1 exam and a biopsy. Treatment varies, depending on your overall health and how advanced the cancer is. It might include surgery, radiation therapy, chemotherapy, or biologic therapy. Biologic therapy boosts your body's own ability to fight cancer.    NIH: National Cancer Institute
Question: Is Juvenile myoclonic epilepsy inherited ?

Answer: Is juvenile myoclonic epilepsy inherited? If I have juvenile myoclonic epilepsy, will my children also have it? Juvenile myoclonic epilepsy is an inherited disorder (about a third of patients with this condition have a positive family history of epilepsy), but the exact mode of inheritance is not clear. A number of studies have indicated that juvenile myoclonic epilepsy is an autosomal dominant condition (i.e. 50% risk of inheritance). However, it exhibits incomplete penetrance, which means that some individuals who inherit the juvenile myoclonic epilepsy gene or genes do not express clinical juvenile myoclonic epilepsy. The children of these individuals who have the gene but do not exhibit symptoms may still inherit the genes and express clinically observable disease. Due to the complex nature of inheritance with this condition, you may benefit from consulting with a genetics professional. This type of healthcare provider can provide you with additional information about diagnosis, natural history, treatment, mode of inheritance, and genetic risks to other family members. To find a genetics clinic, we recommend that you contact your primary doctor for a referral. Click here to learn more about genetic consultations.