umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Autosomal recessive pseudohypoaldosteronism type 1 ?

Answer: Autosomal recessive pseudohypoaldosteronism type 1 is a disorder of electrolyte metabolism characterized by excess loss of salt in the urine and high concentrations of sodium in sweat, stool, and saliva. The disorder involves multiple organ systems and is especially dangerous in the newborn period. Laboratory tests may show hyponatremia, hyperkalemia, and increased plasma renin activity with high levels of aldosterone in the blood. Respiratory tract infections are common in affected children. Treatment involves aggressive salt replacement and control of hyperkalemia. The disorder may become less severe with age. Autosomal recessive pseudohypoaldosteronism type 1 (PHA1B) is transmitted in an autosomal recessive manner and is caused by mutations in the genes coding for the subunits of the amiloride-sensitive sodium channel (SCNN1A, SCNN1B and SCNN1G).
Question: What are the treatments for Chandler's syndrome ?

Answer: How might Chandler's syndrome be treated? While it is not possible to halt the progression of Chandler's syndrome, the glaucoma associated with this disease can be treated with medications and/or filtering surgery. Eye drops used in managing glaucoma decrease pressure in the eye by helping the eye's fluid drain more efficiently and/or decreasing the amount of fluid made by the eye. Drugs used to treat glaucoma are classified according to their active ingredient. These include prostaglandin analogs, beta blockers, alpha agonists, and carbonic anhydrase inhibitors. Combination drugs may be necessary for some patients. If these medications do not successfully treat the glaucoma, surgery may be indicated. Trabeculectomy may be used to treat glaucoma. In some cases, multiple procedures may be necessary. The corneal swelling associated with Chandler's syndrome may be treated through a cornea transplant. Further investigation is needed to determine the best way to manage this condition.
Question: Is Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes inherited ?

Answer: How is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) inherited? MELAS is caused by mutations in mitochondrial DNA (mtDNA) and is therefore transmitted by maternal inheritance (also called mitochondrial inheritance). This type of inheritance applies to all conditions caused by genes in mtDNA. Mitochondria are structures in each cell that turn molecules into energy, and each contain a small amount of DNA. Only egg cells (not sperm cells) contribute mitochondria to offspring, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mtDNA can appear in every generation of a family and can affect both males and females. In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the condition results from a new mutation in a mitochondrial gene and occurs in an individual with no history of MELAS in the family.
Question: Is Proud syndrome inherited ?

Answer: How is Proud syndrome inherited? Proud syndrome is inherited in an X-linked recessive manner. A condition is considered X-linked if the mutated gene that causes the condition is located on the X chromosome, one of the two sex chromosomes (the Y chromosome is the other sex chromosome). Women have two X chromosomes and men have an X and a Y chromosome. In X-linked recessive conditions, men develop the condition if they inherit one gene mutation (they have only one X chromosome). Females are generally only affected if they have two gene mutations (they have two X chromosomes), although some females may rarely have a mild form of the condition if they only inherit one mutation. A woman with an X-linked recessive condition will pass the mutation on to all of her sons and daughters. This means that all of her sons will have the condition and all of her daughters will be carriers. A man with an X-linked recessive condition will pass the mutation to all of his daughters (carriers) and none of his sons.
Question: Is GM1 gangliosidosis inherited ?

Answer: How is GM1 gangliosidosis inherited? GM1 gangliosidosis is a hereditary condition that is inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has: a 25% (1 in 4) chance to be affected a 50% (1 in 2) chance to be an unaffected carrier like each parent a 25% chance to be unaffected and not be a carrier GM1 gangliosidosis is type-specific within families. This means that people with a family history of the condition are generally only at increased risk for the specific type of GM1 gangliosidosis in the family.
Question: What causes Von Willebrand disease ?

Answer: What causes von Willebrand disease? Von Willebrand disease is typically an inherited disease caused by mutations in the VWF gene. The VWF gene provides instructions for making a blood clotting protein called von Willebrand factor, which is important for forming blood clots and preventing further blood loss after an injury. If von Willebrand factor does not function normally or too little of the protein is available, blood clots cannot form properly. VWF gene mutations that reduce the amount of von Willebrand factor or cause the protein to function abnormally (or not at all) are responsible for the signs and symptoms associated with the condition. These mutations may be inherited in an autosomal dominant or autosomal recessive manner, or may occur for the first time in the affected individual (known as a de novo mutation). Another form of the disorder, often considered a separate condition, is called acquired von Willebrand syndrome (AVWS). AVWS is not caused by gene mutations. This condition is typically seen in conjunction with other disorders and usually begins in adulthood. A list of disorders associated with AVWS is available from  UpToDate.
Question: What is (are) Familial stomach cancer ?

Answer: Familial stomach cancer is a cluster of stomach cancer within a family. Most cases of stomach cancer occur sporadically in people with little to no family history of the condition; however, approximately 10% of stomach cancer is considered "familial." Although the underlying cause of some familial cases is unknown, genetic changes (mutations) are identified in a subset of people affected by gastric cancer. Hereditary cancer syndromes associated with a predisposition to gastric cancer include hereditary diffuse gastric cancer, Lynch syndrome, Li-Fraumeni syndrome, familial adenomatous polyposis, and Peutz-Jeghers syndrome. In other families, the cluster of stomach cancers may be due to a combination of gene(s) and/or other shared factors such as environment and lifestyle. Depending on the estimated risk, high-risk cancer screening and/or prophylactic surgeries are typically recommended in people who have an increased risk for stomach cancer based on their personal and/or family histories.
Question: How to prevent Parasites - Lice - Body Lice ?

Answer: Body lice are spread most commonly by direct contact with an infested person or an infested person’s clothing or bedding. Body lice usually infest persons who do not launder and change their clothes regularly.
    
The following are steps that can be taken to help prevent and control the spread of body lice:
    
     - Bathe regularly and change into properly laundered clothes at least once a week; launder infested clothing at least once a week.
     - Machine wash and dry infested clothing and bedding using the hot water (at least 130°F) laundry cycle and the high heat drying cycle. Clothing and items that are not washable can be dry-cleaned OR sealed in a plastic bag and stored for 2 weeks.
     - Do not share clothing, beds, bedding, and towels used by an infested person.
     - Fumigation or dusting with chemical insecticides sometimes is necessary to control and prevent the spread of body lice for certain diseases (epidemic typhus).
Question: What is (are) Cerebral Aneurysms ?

Answer: A cerebral aneurysm is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood. An aneurysm can press on a nerve or surrounding tissue, and also leak or burst, which lets blood spill into surrounding tissues (called a hemorrhage). Cerebral aneurysms can occur at any age, although they are more common in adults than in children and are slightly more common in women than in men. The signs and symptoms of an unruptured cerebral aneurysm will partly depend on its size and rate of growth. For example, a small, unchanging aneurysm will generally produce no symptoms, whereas a larger aneurysm that is steadily growing may produce symptoms such as headache, numbness, loss of feeling in the face or problems with the eyes. Immediately after an aneurysm ruptures, an individual may experience such symptoms as a sudden and unusually severe headache, nausea, vision impairment, vomiting, and loss of consciousness.
Question: what research (or clinical trials) is being done for Krabbe Disease ?

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. The NINDS is a component of the National Institutes of Health, the largest supporter of biomedical research in the world. Hamatopoietic stem cell transplantation -- using stem cells from umbilical cord blood or bone marrow -- has been shown to benefit some individuals when given early in the course of the disease. Scientists plan to test hematopoietic stem cell transplantation plus gene therapy to see if it dramatically increases life expectancy in a mouse model of the disease. Also in a mouse mode, NINDS-funded scientists are testing a combined treatment approach that uses a harmless virus to increase protein production, along with blood stem cell transplantation and small-molecule-based drugs, to reduce neuroinflammation, cell death, and nerve cell degeneration seen in Krabbe disease.
Question: Is autoimmune lymphoproliferative syndrome inherited ?

Answer: In most people with ALPS, including the majority of those with FAS gene mutations, this condition is inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In these cases, an affected person usually inherits the mutation from one affected parent. Other cases with an autosomal dominant pattern result from new (de novo) gene mutations that occur early in embryonic development in people with no history of the disorder in their family.  In a small number of cases, including some cases caused by FAS gene mutations, ALPS is inherited in an autosomal recessive pattern, which means both copies of a gene in each cell have mutations. 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.  ALPS can also arise from a mutation in lymphocytes that is not inherited but instead occurs during an individual's lifetime. This alteration is called a somatic mutation.
Question: What are the genetic changes related to Baraitser-Winter syndrome ?

Answer: Baraitser-Winter syndrome can result from mutations in either the ACTB or ACTG1 gene. These genes provide instructions for making proteins called beta ()-actin and gamma ()-actin, respectively. These proteins are active (expressed) in cells throughout the body. They are organized into a network of fibers called the actin cytoskeleton, which makes up the cell's structural framework. The actin cytoskeleton has several critical functions, including determining cell shape and allowing cells to move.  Mutations in the ACTB or ACTG1 gene alter the function of -actin or -actin. The malfunctioning actin causes changes in the actin cytoskeleton that modify the structure and organization of cells and affect their ability to move. Because these two actin proteins are present in cells throughout the body and are involved in many cell activities, problems with their function likely impact many aspects of development, including neuronal migration. These changes underlie the variety of signs and symptoms associated with Baraitser-Winter syndrome.
Question: What are the genetic changes related to aromatase excess syndrome ?

Answer: Rearrangements of genetic material involving the CYP19A1 gene cause aromatase excess syndrome. The CYP19A1 gene provides instructions for making an enzyme called aromatase. This enzyme converts a class of hormones called androgens, which are involved in male sexual development, to different forms of estrogen. In females, estrogen guides female sexual development before birth and during puberty. In both males and females, estrogen plays a role in regulating bone growth.  The condition can result from several types of genetic rearrangements involving the CYP19A1 gene. These rearrangements alter the activity of the gene and lead to an increase in aromatase production. In affected males, the increased aromatase and subsequent conversion of androgens to estrogen are responsible for the gynecomastia and limited bone growth characteristic of aromatase excess syndrome. Increased estrogen in females can cause symptoms such as irregular menstrual periods and short stature.
Question: What is (are) congenital afibrinogenemia ?

Answer: Congenital afibrinogenemia is a bleeding disorder caused by impairment of the blood clotting process. Normally, blood clots protect the body after an injury by sealing off damaged blood vessels and preventing further blood loss. However, bleeding is uncontrolled in people with congenital afibrinogenemia. Newborns with this condition often experience prolonged bleeding from the umbilical cord stump after birth. Nosebleeds (epistaxis) and bleeding from the gums or tongue are common and can occur after minor trauma or in the absence of injury (spontaneous bleeding). Some affected individuals experience bleeding into the spaces between joints (hemarthrosis) or the muscles (hematoma). Rarely, bleeding in the brain or other internal organs occurs, which can be fatal. Women with congenital afibrinogenemia can have abnormally heavy menstrual bleeding (menorrhagia). Without proper treatment, women with this disorder may have difficulty carrying a pregnancy to term, resulting in repeated miscarriages.
Question: What are the treatments for Meckel syndrome ?

Answer: These resources address the diagnosis or management of Meckel syndrome:  - Genetic Testing Registry: Meckel syndrome type 1  - Genetic Testing Registry: Meckel syndrome type 2  - Genetic Testing Registry: Meckel syndrome type 3  - Genetic Testing Registry: Meckel syndrome type 4  - Genetic Testing Registry: Meckel syndrome type 5  - Genetic Testing Registry: Meckel syndrome type 6  - Genetic Testing Registry: Meckel syndrome type 7  - Genetic Testing Registry: Meckel syndrome type 8  - Genetic Testing Registry: Meckel syndrome, type 10  - Genetic Testing Registry: Meckel syndrome, type 9   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 fibrochondrogenesis inherited ?

Answer: Fibrochondrogenesis is generally inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they usually do not show signs and symptoms of the condition. In a few reported cases, parents of children with fibrochondrogenesis have had mild features that may be related to the condition, including slightly short stature, myopia, cataracts, joint pain, and hearing loss.  In at least one case of fibrochondrogenesis caused by a COL11A2 gene mutation, the condition was inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In this case, the condition resulted from a new (de novo) mutation in the gene that occurred during the formation of reproductive cells (eggs or sperm) in one of the affected individual's parents. There was no history of the disorder in the family.
Question: What are the genetic changes related to autosomal recessive cerebellar ataxia type 1 ?

Answer: Mutations in the SYNE1 gene cause ARCA1. The SYNE1 gene provides instructions for making a protein called Syne-1 that is found in many tissues, but it seems to be especially critical in the brain. Within the brain, the Syne-1 protein appears to play a role in the maintenance of the cerebellum, which is the part of the brain that coordinates movement. The Syne-1 protein is active (expressed) in Purkinje cells, which are located in the cerebellum and are involved in chemical signaling between nerve cells (neurons).  SYNE1 gene mutations that cause ARCA1 result in an abnormally short, dysfunctional version of the Syne-1 protein. The defective protein is thought to impair Purkinje cell function and disrupt signaling between neurons in the cerebellum. The loss of brain cells in the cerebellum causes the movement problems characteristic of ARCA1, but it is unclear how this cell loss is related to impaired Purkinje cell function.
Question: Is Leydig cell hypoplasia inherited ?

Answer: This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. 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.  Only people who have mutations in both copies of the LHCGR gene and are genetically male (with one X and one Y chromosome in each cell) have the characteristic signs of Leydig cell hypoplasia. Although people who are genetically female (with two X chromosomes in each cell) may inherit mutations in both copies of the LHCGR gene, they do not have Leydig cell hypoplasia because they do not have Leydig cells. They have normal female genitalia and normal breast and pubic hair development, but they may begin menstruation later than usual (after age 16) and have irregular menstrual periods. LHCGR gene mutations in females also prevent ovulation, leading to inability to have children (infertility).
Question: What is (are) Kidney Failure: Choosing a Treatment That's Right for You ?

Answer: The kidneys are two bean-shaped organs, each about the size of a fist. They are located just below the rib cage, one on each side of the spine. Every day, the two kidneys filter about 120 to 150 quarts of blood to produce about 1 to 2 quarts of urine, composed of wastes and extra fluid. The urine flows from the kidneys to the bladder through two thin tubes of muscle called ureters, one on each side of the bladder. The bladder stores urine. The muscles of the bladder wall remain relaxed while the bladder fills with urine. As the bladder fills to capacity, signals sent to the brain tell a person to find a toilet soon. When the bladder empties, urine flows out of the body through a tube called the urethra, located at the bottom of the bladder. In men the urethra is long, while in women it is short.
Question: Who is at risk for Prostate Cancer? ?

Answer: Scientists don't know exactly what causes prostate cancer. They cannot explain why one man gets prostate cancer and another does not. However, they have been able to identify some risk factors that are associated with the disease. A risk factor is anything that increases your chances of getting a disease. Age Age is the most important risk factor for prostate cancer. The disease is extremely rare in men under age 40, but the risk increases greatly with age. More than 60 percent of cases are diagnosed in men over age 65. The average age at the time of diagnosis is 65. Race Race is another major risk factor. In the United States, this disease is much more common in African American men than in any other group of men. It is least common in Asian and American Indian men. Family History A man's risk for developing prostate cancer is higher if his father or brother has had the disease. Other Risk Factors Scientists have wondered whether obesity, lack of exercise, smoking, radiation exposure, might increase risk. But at this time, there is no firm evidence that these factors contribute to an increased risk.
Question: what research (or clinical trials) is being done for Alzheimer's Disease ?

Answer: Basic research helps scientists gain new knowledge about a disease process, including how and why it starts and progresses. In Alzheimers disease, basic research seeks to identify the cellular, molecular, and genetic processes that lead to the disease. For example, scientists are studying - the ways in which plaques and tangles damage nerve cells in the brain  - the very earliest brain changes in the disease process  - the role of Alzheimers risk-factor genes in the development of the disease  - how risk-factor genes interact with other genes and lifestyle or environmental factors to affect Alzheimers risk. the ways in which plaques and tangles damage nerve cells in the brain the very earliest brain changes in the disease process the role of Alzheimers risk-factor genes in the development of the disease how risk-factor genes interact with other genes and lifestyle or environmental factors to affect Alzheimers risk. See the latest Alzheimers Disease Progress Report to read about results of NIA-supported Alzheimers research.
Question: Who is at risk for Skin Cancer? ?

Answer: Skin cancer is caused by DNA damage, which can result from excess exposure to ultraviolet (UV) light. Having a previous occurrence of skin cancer or a close family member with the disease also puts you at risk for skin cancer. Other risk factors include having - a weak immune system  - unusual moles or a large number of moles  - white or light (fair)-colored skin, especially with freckles  - blond or red hair or blue or green eyes  - scars or burns on the skin, or skin diseases that make someone sensitive to the sun. a weak immune system unusual moles or a large number of moles white or light (fair)-colored skin, especially with freckles blond or red hair or blue or green eyes scars or burns on the skin, or skin diseases that make someone sensitive to the sun. In 2008 the National Cancer Institute developed a Melanoma Risk Tool which can help patients and their doctors determine their risk. The tool can be found at  http://www.cancer.gov/melanomarisktool/.
Question: What is the outlook for Lip and Oral Cavity Cancer ?

Answer: Certain factors affect prognosis (chance of recovery) and treatment options. Prognosis (chance of recovery) depends on the following:         - The stage of the cancer.    - Where the tumor is in the lip or oral cavity.    - Whether the cancer has spread to blood vessels.        For patients who smoke, the chance of recovery is better if they stop smoking before beginning radiation therapy.   Treatment options depend on the following:          - The stage of the cancer.    - The size of the tumor and where it is in the lip or oral cavity.    - Whether the patient's appearance and ability to talk and eat can stay the same.    - The patient's age and general health.        Patients who have had lip and oral cavity cancer have an increased risk of developing a second cancer in the head or neck. Frequent and careful follow-up is important. Clinical trials are studying the use of retinoid drugs to reduce the risk of a second head and neck cancer. Information about ongoing clinical trials is available from the NCI website.