umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Stenotrophomonas maltophilia infection ?

Answer: How might Stenotrophomonas maltophilia infection be treated? Stenotrophomonas maltophilia (S. maltophilia) bacteria are usually resistant to many antibiotics. The recommended therapy is trimethoprim-sulfamethoxazole (also called co-trimoxazole, or TMP-SMX). If this medication can not be used, a variety of other antibiotics may be considered. Combination therapy may be necessary in life-threatening cases. The duration of therapy largely depends on the site of infection. More detailed information about medications used to treat S. maltophilia infection is available in Medscape Reference and can be viewed by clicking here. This information is intended for informational purposes only. People seeking treatment for S. maltophilia infection should consult with their health care provider.
Question: What is (are) Charcot-Marie-Tooth disease type 2F ?

Answer: Charcot-Marie-Tooth disease type 2F (CMT2F) is a genetic disorder of the peripheral nerves. The subtypes of CMT type 2 (including type 2F) have similar features and are distinguished only by their disease-causing genes. Signs and symptoms usually begin between the ages of 5 and 25 and typically include slowly progressive weakness and atrophy of distal muscles in the feet and/or hands, usually associated with decreased tendon reflexes and mild or no sensory loss. Nerve conduction velocities are usually normal or near-normal. CMT2F is caused by mutations in the HSPB1 gene and is inherited in an autosomal dominant manner. Management may include occupational and physical therapy; special shoes; surgery as needed; mobility aids; and other supportive treatments.
Question: What are the treatments for Stargardt disease ?

Answer: How might Stargardt disease be treated? At present there is no cure for Stargardt disease, and there is very little that can be done to slow its progression. Wearing sunglasses to protect the eyes from UVa, UVb and bright light may be of some benefit. Animal studies have shown that taking excessive amounts of vitamin A and beta carotene could promote the additional accumulation of lipofuscin, as well as a toxic vitamin A derivative called A2E; it is typically recommended that these be avoided by individuals with Stargardt disease. There are possible treatments for Stargardt disease that are being tested, including a gene therapy treatment, which has been given orphan drug status by the European Medicines Agency (EMEA, similar to the FDA). You can read more about this treatment by clicking here. There are also clinical trials involving embryonic stem cell treatments.
Question: Is Adenoid cystic carcinoma inherited ?

Answer: Is adenoid cystic carcinoma inherited? While the underlying cause of adenoid cystic carcinoma (ACC) is not known, no strong genetic risk factors have been identified. To our knowledge, only one case of apparent familial ACC has been reported worldwide. In this case, a father and daughter were both affected with ACC of the sublingual salivary gland. While ACC appears to generally be sporadic (occurring in people with no family history of ACC), there has been speculation about a possible linkage between salivary gland cancers in general and inherited BRCA gene mutations. However, this potential link needs further investigation. There has also been one report of a case of ACC of the salivary gland occurring in a person with basal cell nevus syndrome, a hereditary syndrome known to predispose affected people to a very wide range of tumors.
Question: What are the treatments for Budd-Chiari syndrome ?

Answer: How might Budd-Chiari syndrome be treated? The treatment of Budd-Chiari syndrome varies, depending on the cause of the blockage. Medical treatments may include: Blood-thinning (anticoagulation) medications Clot-busting drugs (thrombolytic treatment) Treatment for the liver disease, including ascites Surgical treatments may also be considered and include: Angioplasty and stent placement Transjugular intrahepatic portosystemic shunt (TIPS) Venous shunt surgery While medical therapy can be instituted for short-term, symptomatic benefit, medical therapy alone has been associated with a high 2-year mortality rate (80-85%). You can view more detailed information regarding the medical and surgical options for treatment of Budd-Chiari syndrome by clicking here.
Question: What is (are) Lupus ?

Answer: Lupus is an autoimmune disease that can affect almost every organ in the body. Symptoms of lupus can range from very mild to life-threatening. There are three types of lupus; systemic lupus erythematosus, discoid lupus, and drug-induced lupus. Genetics is thought to play a role in the development of lupus along with other lifestyle and environmental factors. Studies suggest that a number of different genes may be involved in determining a persons likelihood of developing the disease, which tissues and organs are affected, and the severity of disease. The treatment of lupus depends on the severity of the condition and what parts of the body are affected. Treatment may include acetaminophen, ibuprofen, antimalarial drugs, anti-inflammatory steroids, and/or immunosuppressive drugs.
Question: What is (are) Post-Polio Syndrome ?

Answer: Post-polio syndrome (PPS) is a condition that affects polio survivors many years after recovery from an initial attack of the poliomyelitis virus. PPS is characterized by a further weakening of muscles that were previously affected by the polio infection. The most common symptoms include slowly progressive muscle weakness, fatigue (both general and muscular), and a decrease in muscle size (muscular atrophy). Pain from joint deterioration and increasing skeletal deformities such as scoliosis are common. Some individuals experience only minor symptoms, while others develop more visible muscle weakness and atrophy. PPS is rarely life-threatening but the symptoms can interfere significantly with the individual's capacity to function independently. While polio is contagious, PPS is not transmissible. Only a polio survivor can develop PPS.
Question: What are the treatments for Mucopolysaccharidoses ?

Answer: Currently there is no cure for these disease syndromes.Medical care is directed at treating systemic conditions and improving the person's quality of life. Physical therapy and daily exercise may delay joint problems and improve the ability to move.Surgery to remove tonsils and adenoids may improve breathing among affected individuals with obstructive airway disorders and sleep apnea. Surgery can also correct hernias, help drain excessive cerebrospinal fluid from the brain, and free nerves and nerve roots compressed by skeletal and other abnormalities. Corneal transplants may improve vision among individuals with significant corneal clouding.Enzyme replacement therapies are currently in use for several MPS disorders and are beig tested in the other MPS disorders. Enzyme replacement therapy has proven useful in reducing non-neurological symptoms and pain.
Question: What are the treatments for junctional epidermolysis bullosa ?

Answer: These resources address the diagnosis or management of junctional epidermolysis bullosa:  - Epidermolysis Bullosa Center, Cincinnati Children's Hospital Medical Center  - Gene Review: Gene Review: Junctional Epidermolysis Bullosa  - Genetic Testing Registry: Adult junctional epidermolysis bullosa  - Genetic Testing Registry: Epidermolysis bullosa, junctional  - Genetic Testing Registry: Junctional epidermolysis bullosa gravis of Herlitz  - MedlinePlus Encyclopedia: Epidermolysis Bullosa   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What is (are) van der Woude syndrome ?

Answer: Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.  People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.
Question: What are the genetic changes related to Menkes syndrome ?

Answer: Mutations in the ATP7A gene cause Menkes syndrome. The ATP7A gene provides instructions for making a protein that is important for regulating copper levels in the body. Copper is necessary for many cellular functions, but it is toxic when present in excessive amounts. Mutations in the ATP7A gene result in poor distribution of copper to the body's cells. Copper accumulates in some tissues, such as the small intestine and kidneys, while the brain and other tissues have unusually low levels of copper. The decreased supply of copper can reduce the activity of numerous copper-containing enzymes that are necessary for the structure and function of bone, skin, hair, blood vessels, and the nervous system. The signs and symptoms of Menkes syndrome and occipital horn syndrome are caused by the reduced activity of these copper-containing enzymes.
Question: What are the genetic changes related to popliteal pterygium syndrome ?

Answer: Mutations in the IRF6 gene cause popliteal pterygium syndrome. The IRF6 gene provides instructions for making a protein that plays an important role in early development. This protein is a transcription factor, which means that it attaches (binds) to specific regions of DNA and helps control the activity of particular genes.  The IRF6 protein is active in cells that give rise to tissues in the head and face. It is also involved in the development of other parts of the body, including the skin and genitals.  Mutations in the IRF6 gene that cause popliteal pterygium syndrome may change the transcription factor's effect on the activity of certain genes. This affects the development and maturation of tissues in the face, skin, and genitals, resulting in the signs and symptoms of popliteal pterygium syndrome.
Question: What are the treatments for cerebral cavernous malformation ?

Answer: These resources address the diagnosis or management of cerebral cavernous malformation:  - Angioma Alliance: Imaging and Diagnostics  - Gene Review: Gene Review: Familial Cerebral Cavernous Malformation  - Genetic Testing Registry: Cerebral cavernous malformation  - Genetic Testing Registry: Cerebral cavernous malformations 1  - Genetic Testing Registry: Cerebral cavernous malformations 2  - Genetic Testing Registry: Cerebral cavernous malformations 3  - MedlinePlus Encyclopedia: Cerebral angiography   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 Marfan syndrome ?

Answer: Mutations in the FBN1 gene cause Marfan syndrome. The FBN1 gene provides instructions for making a protein called fibrillin-1. Fibrillin-1 attaches (binds) to other fibrillin-1 proteins and other molecules to form threadlike filaments called microfibrils. Microfibrils become part of the fibers that provide strength and flexibility to connective tissue. Additionally, microfibrils store molecules called growth factors and release them at various times to control the growth and repair of tissues and organs throughout the body. A mutation in the FBN1 gene can reduce the amount of functional fibrillin-1 that is available to form microfibrils, which leads to decreased microfibril formation. As a result, excess growth factors are released and elasticity in many tissues is decreased, leading to overgrowth and instability of tissues.
Question: What are the treatments for hereditary spherocytosis ?

Answer: These resources address the diagnosis or management of hereditary spherocytosis:  - Genetic Testing Registry: Hereditary spherocytosis  - Genetic Testing Registry: Spherocytosis type 2  - Genetic Testing Registry: Spherocytosis type 3  - Genetic Testing Registry: Spherocytosis type 4  - Genetic Testing Registry: Spherocytosis type 5  - Genetic Testing Registry: Spherocytosis, type 1, autosomal recessive  - Seattle Children's Hospital: Hereditary Spherocytosis Treatment Options   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 symptoms of Cystocele ?

Answer: The symptoms of a cystocele may include
                
- a vaginal bulge  - the feeling that something is falling out of the vagina  - the sensation of pelvic heaviness or fullness  - difficulty starting a urine stream  - a feeling of incomplete urination  - frequent or urgent urination
                
Women who have a cystocele may also leak some urine as a result of movements that put pressure on the bladder, called stress urinary incontinence. These movements can include coughing, sneezing, laughing, or physical activity, such as walking. Urinary retentionthe inability to empty the bladder completelymay occur with more severe cystoceles if the cystocele creates a kink in the womans urethra and blocks urine flow.
                
Women with mild cystoceles often do not have any symptoms.
Question: Do you have information about Surgery

Answer: Summary : There are many reasons to have surgery. Some operations can relieve or prevent pain. Others can reduce a symptom of a problem or improve some body function. Some surgeries are done to find a problem. For example, a surgeon may do a biopsy, which involves removing a piece of tissue to examine under a microscope. Some surgeries, like heart surgery, can save your life.    Some operations that once needed large incisions (cuts in the body) can now be done using much smaller cuts. This is called laparoscopic surgery. Surgeons insert a thin tube with a camera to see, and use small tools to do the surgery.    After surgery there can be a risk of complications, including infection, too much bleeding, reaction to anesthesia, or accidental injury. There is almost always some pain with surgery.    Agency for Healthcare Research and Quality
Question: Do you have information about Metabolic Panel

Answer: Summary : A metabolic panel is a group of tests that measures different chemicals in the blood. These tests are usually done on the fluid (plasma) part of blood. The tests provide information about your body's chemical balance and metabolism. They can give doctors information about your muscles (including the heart), bones, and organs, such as the kidneys and liver.     There are two types: basic metabolic panel (BMP) and comprehensive metabolic panel (CMP). The BMP checks your blood sugar, calcium, and electrolytes. The BMP also has tests such as creatinine to check your kidney function. The CMP includes all of those tests, as well as tests of your cholesterol, protein levels, and liver function.    You probably need to fast (not eat any food) before the test. Your doctor will tell you how to prepare for the test you are having.
Question: What is (are) Progressive Supranuclear Palsy ?

Answer: Progressive supranuclear palsy (PSP) is a rare brain disease. It affects brain cells that control the movement of your eyes. This leads to serious and permanent problems with balance and the way you walk. It usually occurs in middle-aged or elderly people. Symptoms are very different in each person, but may include personality changes, speech, vision and swallowing problems. Doctors sometimes confuse PSP with Parkinson's disease or Alzheimer's disease.     PSP has no cure and no effective treatments. Walking aids, special glasses and certain medicines might help somewhat. Although the disease gets worse over time, it isn't fatal on its own. However, PSP is dangerous because it increases your risk of pneumonia and choking from swallowing problems and injuries from falling.    NIH: National Institute of Neurological Disorders and Stroke
Question: What are the treatments for Chorea-acanthocytosis ?

Answer: How is chorea-acanthocytosis treated? There are currently no treatments to prevent or slow the progression of chorea-acanthocytosis; treatment is symptomatic and supportive. Management may include: botulinum toxin for decreasing the oro-facio-lingual dystonia; feeding assistance; speech therapy; mechanical protective devices; splints for foot drop; phenytoin, clobazam, and valproate for seizure management; antidepressant or antipsychotic medications; dopamine antagonists such as atypical neuroleptics or tetrabenazine; and standard treatment for cardiomyopathy. Surveillance includes monitoring of nutritional status and adaptation of diet to assure adequate caloric intake, cardiac evaluations every five years, and EEG every third year.
Question: What is (are) Birt-Hogg-Dube syndrome ?

Answer: Birt-Hogg-Dube syndrome (BHDS) is a rare, complex, genetic disorder with three main clinical findings: non-cancerous (benign) skin tumors; lung cysts and/or history of pneumothorax (collapsed lung); and various types of renal tumors. Fibrofolliculomas are a type of benign skin tumor specific to BHDS. They typically occur on the face, neck, and upper torso. Most people with BHDS also have multiple cysts in both lungs that can be seen on high-resolution chest CT scan. While these cysts usually do not cause any symptoms, they put people at increased risk for spontaneous pneumothorax. BHDS is caused by mutations in the FLCN gene. The condition is inherited in an autosomal dominant fashion.
Question: What is (are) Warm antibody hemolytic anemia ?

Answer: Warm antibody hemolytic anemia is the most common form of autoimmune hemolytic anemia. It is defined by the presence of  autoantibodies that attach to and destroy red blood cells at temperatures equal to or greater than normal body temperature. The disease is characterized by symptoms related to anemia, including fatigue, difficulty breathing, jaundice and dark urine. In severe disease, fever, chest pain, syncope or heart failure may occur. Hemolysis (the breakdown of red blood cells) occurs mainly in the spleen, so mild splenomegaly is relatively common. Treatment typically involves a corticosteroid like prednisone. In cases that don't respond to treatment, splenectomy may be considered. Chronic and severe disease may be treated with Rituximab or immunosuppressive medications.
Question: What causes Nonalcoholic steatohepatitis ?

Answer: What causes nonalcoholic steatohepatitis? The underlying cause of NASH remains unclear. It most often occurs in persons who are middle-aged and overweight or obese. Many patients with NASH have elevated blood lipids, such as cholesterol and triglycerides, and many have diabetes or prediabetes. However, not every obese person or every patient with diabetes has NASH. Furthermore, some patients with NASH are not obese, do not have diabetes, and have normal blood cholesterol and lipids. NASH can occur without any apparent risk factor and can even occur in children. While the underlying reason for the liver injury that causes NASH is not known, several factors are possible candidates: insulin resistance release of toxic inflammatory proteins by fat cells (cytokines) oxidative stress (deterioration of cells) inside liver cells
Question: What is (are) Nevoid basal cell carcinoma syndrome ?

Answer: Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene.
Question: What are the treatments for Takayasu arteritis ?

Answer: How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity of B-lymphocyets (B-cell depletion), medications that are toxic to cells (cytotoxic agents), medications that block the activity of tumor necrosis factor (anti-tumor necrosis factor agents), and antihypertensive agents. Lifestyle modification including exercise and diet might additionally be recommended. For additional information on the treatment of Takayasu arteritis, please reference the Medscape article. You may need to register to view the article, but registration is free.
Question: Is Microcephalic osteodysplastic primordial dwarfism type 1 inherited ?

Answer: How is microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1) inherited? MOPD1 is thought to be inherited in an autosomal recessive manner. This means that affected individuals have abnormal gene changes (mutations) in both copies of the disease-causing gene, with one copy inherited from each parent. The parents who each carry one abnormal copy of the gene are referred to as carriers; carriers typically do not show signs or symptoms of an autosomal recessive condition. When two carriers have children, each child has a 25% (1 in 4) risk to have the condition, a 50% (1 in 2) risk to be a carrier like each of the parents, and a 25% chance to not have the condition and not be a carrier.
Question: What are the treatments for Chronic progressive external ophthalmoplegia ?

Answer: How might chronic progressive external ophthalmoplegia be treated? Ptosis caused by chronic progressive external ophthalmoplegia (CPEO) can be corrected by surgery, or by using glasses that have a ptosis crutch to lift the upper eyelids. Strabismus surgery can be helpful in carefully selected patients if diplopia (double vision) occurs. Some individuals with a deficiency of coenzyme Q10 have CPEO as an associated abnormality. Coenzyme Q10 is important for normal mitochondrial function. In individuals with this deficiency, supplemental coenzyme Q10 has been found to improve general neurologic function and exercise tolerance. However, coenzyme Q10 has not been shown to improve the ophthalmoplegia or ptosis in people who have isolated CPEO.
Question: What is (are) Idiopathic juxtafoveal retinal telangiectasia ?

Answer: Idiopathic juxtafoveal retinal telangiectasia (IJT) refers to a group of eye conditions characterized by dilated or twisting blood vessels (telangiectasia) and defective capillaries (tiny blood vessels) near the fovea in the retina. The fovea has the biggest number of special retinal nerve cells, called cones, which enable sharp, daytime vision. In IJT, the telangiectasias cause fluid or crystal buildup and swelling, impairing reflection of light. This results in progressive vision loss. It may be congenital (present at birth) or can develop during the lifetime (acquired). The different types of IJT are distinguished by their features and treatment options. Laser photocoagulation maybe helpful in treating vision loss for individuals with certain types of IJT.