umarjan11/Medical-qna huggingface dataset:
Question: What is (are) Infertility ?

Answer: Infertility means not being able to become pregnant after a year of trying. If a woman can get pregnant but keeps having miscarriages or stillbirths, that's also called infertility.    Infertility is fairly common. After one year of having unprotected sex, about 15 percent of couples are unable to get pregnant. About a third of the time, infertility can be traced to the woman. In another third of cases, it is because of the man. The rest of the time, it is because of both partners or no cause can be found.    There are treatments that are specifically for men or for women. Some involve both partners. Drugs, assisted reproductive technology, and surgery are common treatments. Happily, many couples treated for infertility go on to have babies.    NIH: National Institute of Child Health and Human Development
Question: What is (are) Mitochondrial complex II deficiency ?

Answer: Complex II deficiency is a mitochondrial disease. Mitochondria are specialized compartments in cells that create more than 90% of the energy needed by the body. In mitochondrial diseases, the mitochondria don't work correctly resulting in less energy in the cell, cell injury and cell death. The signs and symptoms of mitochondrial complex II deficiency can vary greatly from severe life-threatening symptoms in infancy to muscle disease beginning in adulthood. Complex II deficiency can be caused by mutations in the SDHA, SDHB, SDHD, or SDHAF1 genes. In many cases the underlying gene mutations cannot be identified. Complex II deficiency is inherited in an autosomal recessive fashion. Complex II deficiency gene mutation carriers may be at an increased risk for certain cancers.
Question: What is (are) Absence of Tibia ?

Answer: Absence of tibia is a rare birth defect that is characterized by deficiency of the tibia (the shinbone) with other bones of the lower leg relatively intact. The condition may affect one or both legs. Some cases are isolated birth defects, while others are associated with a variety of skeletal and other malformations. It can also be a part of a recognized syndrome such as Werner's syndrome, tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome, and CHARGE syndrome. The underlying cause is generally unknown. Although most isolated cases occur sporadically in people with no family history of the condition, absence of the tibia can rarely affect more than one family member. Treatment varies based on the severity of the condition, but generally involves surgery (i.e. amputation or reconstructive surgery with a prosthesis adapted to growth).
Question: What is (are) Apocrine carcinoma ?

Answer: Apocrine carcinoma is a cancer of a sweat gland.  Apocrine carcionoma most often develops under the arm (the axilla), but it can develop on the scalp or other parts of the body.  The cause of apocrine carcinoma is unknown.  Apocrine carcinoma usually appears as a single, small, painless bump (nodule) that can vary in color and slowly increases in size.  The average age at the time of diagnosis is 62 years of age, and twice as many men are affected than women.  Most apocrine carcinomas can be treated and are not fatal.  Treatment of apocrine carcinoma is surgery to remove as much of the cancer as possible.  Additional treatments such as radiation therapy and chemotherapy have been used to treat this condition, but the usefulness of these treatments is unproven.
Question: What is (are) Mulibrey Nanism ?

Answer: Mulibrey nanism is a rare genetic disorder characterized by profound growth delays and distinctive abnormalities of the muscles, liver, brain, and eyes. The acronym MULIBREY stands for (MU)scle, (LI)ver, (BR)ain, and (EY)e; nanism is another word for dwarfism. Signs and symptoms of the disorder may include constrictive pericarditis; low birth weight; short stature; severe progressive growth delays; hypotonia; hepatomegaly; and yellow discoloration of the eyes in infancy. It is caused by mutations in the TRIM37 gene and is inherited in an autosomal recessive manner. Treatment may include surgery for constrictive pericarditis, medications for progressive heart failure and hormone replacement therapy.
Question: What is (are) Duane syndrome type 2 ?

Answer: Duane syndrome is a disorder of eye movement. This condition prevents outward movement of the eye (toward the ear), and in some cases may also limit inward eye movement (toward the nose). As the eye moves inward, the eyelids partially close and the eyeball pulls back (retracts) into its socket. Usually only one eye is affected. Some people with Duane syndrome develop amblyopia ("lazy eye"), a condition that causes vision loss in the affected eye. Most cases occur without other signs and symptoms. There are three forms of Duane syndrome, designated types 1, 2, and 3. The types vary in which eye movements are most severely restricted (inward, outward, or both). All three types are characterized by retraction of the eyeball as the eye moves inward and are inherited in an autosomal dominant fashion.
Question: What is (are) Goldberg-Shprintzen megacolon syndrome ?

Answer: Goldberg-Shprintzen megacolon syndrome is a very rare genetic condition characterized by Hirschsprung disease, megacolon, small head, widely spaced eyes, cleft palate, short stature, and learning disability. This condition has been described in about 15 individuals to date. Some of the reported cases also had iris coloboma, hypotonia, epilepsy, and ptosis. One of the described patients had sparse scalp hair, a sloping forehead, sparse eyebrows, broad nasal bridge, large ears, pointed chin, ventricular septal defect, hypospadias, syndactyly between the second and third fingers, and clubfeet. This condition appears to be inherited as an autosomal recessive trait and was found to be caused by mutations in the KIAA1279 gene.
Question: What is (are) Costello syndrome ?

Answer: Costello syndrome is a rare condition that affects many different parts of the body. Signs and symptoms generally include developmental delay, intellectual disability, distinctive facial features, loose folds of extra skin (especially on the hands and feet), and unusually flexible joints. Affected people may also have heart abnormalities such as tachycardia, structural heart defects, and hypertrophic cardiomyopathy. Beginning in early childhood, people with Costello syndrome are at an increased risk of developing certain cancerous and noncancerous tumors. Costello syndrome is caused by changes (mutations) in the HRAS gene. It is considered an autosomal dominant condition; however, almost all reported cases are the result of de novo gene mutations and occur in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person.
Question: What is (are) Microcephalic osteodysplastic primordial dwarfism type 2 ?

Answer: Microcephalic osteodysplastic primordial dwarfism type 2 (MOPD2) is a condition characterized by short stature (dwarfism), skeletal abnormalities and an unusually small head size (microcephaly). Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis; shortened wrist bones; a high-pitched voice; distinctive facial features (prominent nose, full cheeks, a long midface, and a small jaw); small teeth; abnormal skin pigmentation; and blood vessel abnormalities. Intellectual development is typically normal. It is caused by mutations in the PCNT gene and is inherited in an autosomal recessive manner.
Question: What causes Respiratory Distress Syndrome ?

Answer: The main cause of respiratory distress syndrome (RDS) is a lack of surfactant in the lungs. Surfactant is a liquid that coats the inside of the lungs.
                
A fetus's lungs start making surfactant during the third trimester of pregnancy (weeks 26 through labor and delivery). The substance coats the insides of the air sacs in the lungs. This helps keep the lungs open so breathing can occur after birth.
                
Without enough surfactant, the lungs will likely collapse when the infant exhales (breathes out). The infant then has to work harder to breathe. He or she might not be able to get enough oxygen to support the body's organs.
                
Some full-term infants develop RDS because they have faulty genes that affect how their bodies make surfactant.
Question: What are the treatments for Neuromyelitis Optica ?

Answer: There is no cure for NMO and no FDA-approved therapies, but there are therapies to treat an attack while it is happening, to reduce symptoms, and to prevent relapses.NMO relapses and attacks are often treated with corticosteroid drugs and plasma exchange (also called plasmapheresis, a process used to remove harmful antibodies from the bloodstream). Immunosuppressvie drugs used to prevent attacks include mycophenolate mofetil, rituximab, and azathioprine. Pain, stiffness, muscle spasms, and bladder and bowel control problems can be managed with medicaitons and therapies. Individuals with major disability will require the combined efforts to physical and occupational therapists, along with social services professionals to address complex rehabilitation needs.
Question: What is (are) Attention Deficit-Hyperactivity Disorder ?

Answer: Attention deficit-hyperactivity disorder (ADHD) is a neurobehavioral disorder that affects 3-5 percent of all American children. It interferes with a person's ability to stay on a task and to exercise age-appropriate inhibition (cognitive alone or both cognitive and behavioral). Some of the warning signs of ADHD include failure to listen to instructions, inability to organize oneself and school work, fidgeting with hands and feet, talking too much, leaving projects, chores and homework unfinished, and having trouble paying attention to and responding to details. There are several types of ADHD: a predominantly inattentive subtype, a predominantly hyperactive-impulsive subtype, and a combined subtype. ADHD is usually diagnosed in childhood, although the condition can continue into the adult years.
Question: What are the treatments for progressive supranuclear palsy ?

Answer: These resources address the diagnosis or management of progressive supranuclear palsy:  - Gene Review: Gene Review: MAPT-Related Disorders  - Genetic Testing Registry: Progressive supranuclear ophthalmoplegia  - NHS Choices (UK): Diagnosis of Progressive Supranuclear Palsy  - NHS Choices (UK): Treatment of Progressive Supranuclear Palsy  - Partners in Parkinson's: Movement Disorder Specialist Finder  - University of California, San Francisco (UCSF) Memory and Aging 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 are the genetic changes related to pulmonary veno-occlusive disease ?

Answer: The primary genetic cause of PVOD is mutations in the EIF2AK4 gene. Mutations in other genes may cause a small percentage of cases. Other suspected causes of PVOD include viral infection and exposure to toxic chemicals, including certain chemotherapy drugs.  The protein produced from the EIF2AK4 gene helps cells respond appropriately to changes that could damage the cell. For example, when the level of protein building blocks (amino acids) in a cell falls too low, the activity of the EIF2AK4 protein helps reduce the production of other proteins, which conserves amino acids. The EIF2AK4 gene mutations involved in PVOD likely eliminate functional EIF2AK4 protein; however, it is unknown how absence of this protein's function leads to the pulmonary vessel abnormalities that underlie PVOD.
Question: What are the treatments for lacrimo-auriculo-dento-digital syndrome ?

Answer: These resources address the diagnosis or management of lacrimo-auriculo-dento-digital syndrome:  - American Academy of Ophthalmology: The Tearing Patient  - Cincinnati Children's Hospital: Tear Duct Probing and Irrigation  - Cleveland Clinic: Dry Eyes  - Cleveland Clinic: Dry Mouth Treatment  - Genetic Testing Registry: Levy-Hollister syndrome  - Monroe Carell Jr. Children's Hospital at Vanderbilt: Blocked Tear Duct (Dacryostenosis)   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 thiopurine S-methyltransferase deficiency ?

Answer: TPMT deficiency results from changes in the TPMT gene. This gene provides instructions for making the TPMT enzyme, which plays a critical role in breaking down (metabolizing) thiopurine drugs. Once inside the body, these drugs are converted to toxic compounds that kill immune system cells in the bone marrow. The TPMT enzyme "turns off" thiopurine drugs by breaking them down into inactive, nontoxic compounds. Changes in the TPMT gene reduce the stability and activity of the TPMT enzyme. Without enough of this enzyme, the drugs cannot be "turned off," so they stay in the body longer and continue to destroy cells unchecked. The resulting damage to the bone marrow leads to potentially life-threatening myelosuppression.
Question: Is erythrokeratodermia variabilis et progressiva inherited ?

Answer: EKVP is most often inherited in an autosomal dominant pattern, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases result from new gene mutations and occur in people with no history of the disorder in their family.  A few studies have suggested that EKVP can also have an autosomal recessive pattern of inheritance. However, this inheritance pattern has only been reported in a small number of affected families, and not all researchers agree that it is truly autosomal recessive. Autosomal recessive inheritance 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.
Question: What is (are) Lynch syndrome ?

Answer: Lynch syndrome, often called hereditary nonpolyposis colorectal cancer (HNPCC), is an inherited disorder that increases the risk of many types of cancer, particularly cancers of the colon (large intestine) and rectum, which are collectively referred to as colorectal cancer. People with Lynch syndrome also have an increased risk of cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, and skin. Additionally, women with this disorder have a high risk of cancer of the ovaries and lining of the uterus (the endometrium). People with Lynch syndrome may occasionally have noncancerous (benign) growths (polyps) in the colon, called colon polyps. In individuals with this disorder, colon polyps occur earlier but not in greater numbers than they do in the general population.
Question: What are the treatments for MYH9-related disorder ?

Answer: These resources address the diagnosis or management of MYH9-related disorder:  - Gene Review: Gene Review: MYH9-Related Disorders  - Genetic Testing Registry: Epstein syndrome  - Genetic Testing Registry: Fechtner syndrome  - Genetic Testing Registry: Macrothrombocytopenia and progressive sensorineural deafness  - Genetic Testing Registry: May-Hegglin anomaly  - Genetic Testing Registry: Sebastian syndrome  - MedlinePlus Encyclopedia: Glomerulonephritis  - MedlinePlus Encyclopedia: Thrombocytopenia   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 Emanuel syndrome ?

Answer: Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra chromosome is known as a derivative 22 or der(22) chromosome.  As a result of the extra chromosome, people with Emanuel syndrome have three copies of some genes in each cell instead of the usual two copies. The excess genetic material disrupts the normal course of development, leading to the characteristic signs and symptoms of this disorder. Researchers are working to determine which genes are included on the der(22) chromosome and what role these genes play in development.
Question: What is (are) SADDAN ?

Answer: SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans) is a rare disorder of bone growth characterized by skeletal, brain, and skin abnormalities.  All people with this condition have extremely short stature with particularly short arms and legs. Other features include unusual bowing of the leg bones; a small chest with short ribs and curved collar bones; short, broad fingers; and folds of extra skin on the arms and legs. Structural abnormalities of the brain cause seizures, profound developmental delay, and intellectual disability. Several affected individuals also have had episodes in which their breathing slows or stops for short periods (apnea). Acanthosis nigricans, a progressive skin disorder characterized by thick, dark, velvety skin, is another characteristic feature of SADDAN that develops in infancy or early childhood.
Question: Is factor XIII deficiency inherited ?

Answer: Inherited factor XIII deficiency is considered to have an autosomal recessive pattern of inheritance, which means that it results when both copies of either the F13A1 gene or the F13B gene in each cell have mutations.  Some people, including parents of individuals with factor XIII deficiency, carry a single mutated copy of the F13A1 or F13B gene in each cell. These mutation carriers have a reduced amount of factor XIII in their bloodstream (20 to 60 percent of normal), and they may experience abnormal bleeding after surgery, dental work, or major trauma. However, most people who carry one mutated copy of the F13A1 or F13B gene do not have abnormal bleeding episodes under normal circumstances, and so they never come to medical attention.  The acquired form of factor XIII deficiency is not inherited and does not run in families.
Question: What are the genetic changes related to Duane-radial ray syndrome ?

Answer: Duane-radial ray syndrome results from mutations in the SALL4 gene. This gene is part of a group of genes called the SALL family. SALL genes provide instructions for making proteins that are involved in the formation of tissues and organs before birth. The proteins produced from these genes act as transcription factors, which means they attach (bind) to specific regions of DNA and help control the activity of particular genes. The exact function of the SALL4 protein is unclear, although it appears to be important for the normal development of the eyes, heart, and limbs.  Mutations in the SALL4 gene prevent cells from making any functional protein from one copy of the gene. It is unclear how a reduction in the amount of the SALL4 protein leads to Duane anomaly, radial ray malformations, and the other features of Duane-radial ray syndrome and similar conditions.
Question: What to do for Sexual and Urologic Problems of Diabetes ?

Answer: The nerve damage of diabetes may cause sexual or urologic problems.
                
- Sexual problems in men with diabetes include      - erectile dysfunction    - retrograde ejaculation    - Sexual problems in women with diabetes include      - decreased vaginal lubrication and uncomfortable or painful intercourse    - decreased or no sexual desire    - decreased or absent sexual response    - Urologic problems in men and women with diabetes include      - bladder problems related to nerve damage, such as overactive bladder, poor control of sphincter muscles, and urine retention    - urinary tract infections    - Controlling diabetes through diet, physical activity, and medications as needed can help prevent sexual and urologic problems.  - Treatment is available for sexual and urologic problems.
Question: What are the treatments for Hypothyroidism ?

Answer: Health care providers treat hypothyroidism with synthetic thyroxine, a medication that is identical to the hormone T4. The exact dose will depend on the patients age and weight, the severity of the hypothyroidism, the presence of other health problems, and whether the person is taking other drugs that might interfere with how well the body uses thyroid hormone.
                
Health care providers test TSH levels about 6 to 8 weeks after a patient begins taking thyroid hormone and make any necessary adjustments to the dose. Each time the dose is adjusted, the blood is tested again. Once a stable dose is reached, blood tests are normally repeated in 6 months and then once a year.
                
Hypothyroidism can almost always be completely controlled with synthetic thyroxine, as long as the recommended dose is taken every day as instructed.
Question: What are the treatments for Breast Cancer ?

Answer: Chemotherapy is the use of drugs to kill cancer cells. A patient may take chemotherapy by mouth in pill form, or it may be put into the body by inserting a needle into a vein or muscle. Chemotherapy is called whole body or systemic treatment if the drug(s) enter the bloodstream, travel through the body, and kill cancer cells throughout the body. Treatment with standard chemotherapy can be as short as two months or as long as two years. Targeted therapies, usually in pill form, have become more common and focus on either a gene or protein abnormality and usually have few adverse side-effects as they directly affect the abnormality and not other cells or tissues in the body. Sometimes chemotherapy is the only treatment the doctor will recommend. More often, however, chemotherapy is used in addition to surgery, radiation therapy, and/or biological therapy.
Question: what research (or clinical trials) is being done for Lung Cancer ?

Answer: Researchers continue to look at new ways to combine, schedule, and sequence the use of chemotherapy, surgery, and radiation to treat lung cancer. Today, some of the most promising treatment approaches incorporate precision medicine. This approach first looks to see what genes may be mutated that are causing the cancer, and once these genes are identified, specific drugs may be available that target the mutations and treat the cancer directly without the harsh side-effects often found with conventional chemotherapy. Researchers are also constantly trying to come up with new ways to find and diagnose lung cancer in order to catch it and treat it in its earliest stages. The National Lung Screening Trial, or NLST, showed conclusively that spiral CT reduced the risk of dying by 20 percent compared to those who received a chest x-ray among heavy smokers Get more information on current lung cancer research.
Question: What is (are) Surviving Cancer ?

Answer: For many older adults, intimacy remains an important need. Cancer and cancer treatment can have a major impact on intimacy and sexual functions for both men and women. Problems are often caused by physical changes, such as erectile dysfunction or incontinence which can occur after prostate surgery. Other problems are caused by emotional issues like changes in body image because of scarring or the loss of a breast. Loss of interest in or desire for intimacy can occur and be particularly troublesome. Often, sexual problems will not get better on their own, so it is important to talk with your doctor. He or she can suggest a treatment depending on the type of problem and its cause. A variety of interventions, such as medications, devices, surgery, exercises to strengthen genital muscles, or counseling can help.  Learn more about treating problems with intimacy after cancer.