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

Answer: Wilms tumor is a rare type of kidney cancer. It causes a tumor on one or both kidneys. It usually affects children, but can happen in adults. Having certain genetic conditions or birth defects can increase the risk of getting it. Children that are at risk should be screened for Wilms tumor every three months until they turn eight.    Symptoms include a lump in the abdomen, blood in the urine, and a fever for no reason. Tests that examine the kidney and blood are used to find the tumor.    Doctors usually diagnose and remove the tumor in surgery. Other treatments include chemotherapy and radiation and biologic therapies. Biologic therapy boosts your body's own ability to fight cancer.    NIH: National Cancer Institute
Question: Do you have information about Minerals

Answer: Summary : Minerals are important for your body to stay healthy. Your body uses minerals for many different jobs, including building bones, making hormones and regulating your heartbeat.     There are two kinds of minerals: macrominerals and trace minerals. Macrominerals are minerals your body needs in larger amounts. They include calcium, phosphorus, magnesium, sodium, potassium, chloride and sulfur. Your body needs just small amounts of trace minerals. These include iron, manganese, copper, iodine, zinc, cobalt, fluoride and selenium.     The best way to get the minerals your body needs is by eating a wide variety of foods. In some cases, your doctor may recommend a mineral supplement.
Question: What is (are) Insect Bites and Stings ?

Answer: Most insect bites are harmless, though they sometimes cause discomfort. Bee, wasp, and hornet stings and fire ant bites usually hurt. Mosquito and flea bites usually itch. Insects can also spread diseases. In the United States, some mosquitoes spread West Nile virus. Travelers outside the United States may be at risk for malaria and other infections.     To prevent insect bites and their complications       - Don't bother insects    - Use insect repellant     - Wear protective clothing     - Be careful when you eat outside because food attracts insects    - If you know you have severe allergic reactions to insect bites and stings (such as anaphylaxis), carry an emergency epinephrine kit
Question: How to diagnose Periventricular heterotopia ?

Answer: What are the recommended evaluations for patients diagnosed with periventricular nodular heterotopia? The following evaluations are recommended:[1823]  Imaging exams of the brain to establish the diagnosis  Evaluation by a neurologist  Evaluation by a doctor specialized in epilepsy if seizures are present  Psychiatric evaluation if necessary  Magnetic resonance angiography (MRA) of the brain vessels, carotid arteries, and aorta because of the risk for stroke  Evaluation by a cardiologist and either echocardiogram or a heart magnetic resonance imaging (MRI) because of the risk for aortic aneurysm  Evaluation by a hematologist if findings suggest a bleeding diathesis.
Question: What are the treatments for Periventricular heterotopia ?

Answer: How might periventricular nodular heterotopia be treated? Treatment of epilepsy generally follows principles for a seizure disorder caused by a known structural brain abnormality; carbamezipine is most often used, because most patients have focal seizures. However, antiepileptic drugs may be selected based on side effects, tolerability, and efficacy. It is recommended that patients with the X-linked form of the disease have studies evaluating the carotid artery and an abdominal ultrasound because of the risk for aortic or carotid dissection or other vascular anomalies.[1823] Treatment also include surgery for removal of the lesion and more recently, laser ablation guided with magnetic resonance.
Question: What is (are) Holt-Oram syndrome ?

Answer: Holt-Oram syndrome is a genetic condition characterized by skeletal abnormalities of the hands and arms (upper limbs) and heart problems. Affected people have at least one bone abnormality in the wrist, many of which can be detected only by X-ray. Additional skeletal abnormalities may also be present. About 75% of affected people have heart problems, including congenital heart defects and/or cardiac conduction disease (an abnormality in the electrical system that coordinates contractions of the heart chambers). Holt-Oram syndrome is caused by mutations in the TBX5 gene and is inherited in an autosomal dominant manner. Most cases result from new mutations in the gene and occur in people with no family history of the condition.
Question: What is (are) Progressive bulbar palsy ?

Answer: Progressive bulbar palsy involves the brain stem. The brain stem is the part of the brain needed for swallowing, speaking, chewing, and other functions. Signs and symptoms of progressive bulbar palsy include difficulty swallowing, weak jaw and facial muscles, progressive loss of speech, and weakening of the tongue. Additional symptoms include less prominent weakness in the arms and legs, and outbursts of laughing or crying (called emotional lability). Progressive bulbar palsy is considered a variant form of amyotrophic lateral sclerosis (ALS). Many people with progressive bulbar palsy later develop ALS. While there is no cure for progressive bulbar palsy or for ALS, doctors can treat symptoms.
Question: What is (are) Pars planitis ?

Answer: Pars planitis is a disease of the eye that is characterized by inflammation of the narrowed area (pars plana) between the colored part of the eye (iris) and the choroid. This may lead to blurred vision; dark, floating spots in the vision; and progressive vision loss. As the condition advances, cataracts, retinal detachment, or macular edema (fluid within the retina) may develop. Pars planitis most often affects young men and is generally not associated with any other disease or symptoms (idiopathic); however, it can be associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Treatment typically includes corticosteroid drugs, immunosuppressive medications, and/or surgery.
Question: Is Essential tremor inherited ?

Answer: Is essential tremor inherited? About half of all cases of essential tremor appear to occur because of a genetic mutation. This is referred to as familial tremor. In these cases, essential tremor appears to be passed through generations in families, but the inheritance pattern varies. In many affected families, the condition appears to be inherited in an autosomal dominant manner, which means one copy of an altered gene in each cell is sufficient to cause the disorder. In other families, the inheritance pattern is unclear. Essential tremor may also appear in people with no history of the disorder in their family. In some families, there are individuals who have essential tremor while others have other movement disorders, such as involuntary muscle tensing (dystonia). The potential genetic connection between essential tremor and other movement disorders is an active area of research..
Question: What is (are) Polyembryoma ?

Answer: Polyembryoma is a type of tumor that develops from the cells of the gonads (testes in men or ovaries in women).  Such tumors are called germ cell tumors.  Polyembryomas have a distinctive look because they are composed of many parts that are shaped like embryos, one of the earliest stages of a developing human during pregnancy.  Symptoms of a polyembryoma may include an unusual bump or mass in the abdomen which can cause pain in some individuals; puberty at an unusually young age (known as precocious puberty); or irregularities in a female's menstruation.  Treatment begins with surgery and may be followed by chemotherapy and/or radiation therapy.  The cause of polyembryoma is not yet known.
Question: What is (are) Acute febrile neutrophilic dermatosis ?

Answer: Acute febrile neutrophilic dermatosis - also known as Sweet syndrome - is a skin condition marked by fever, inflammation of the joints (arthritis), and painful skin lesions that appear mainly on the face, neck, back and arms. Although middle-aged women are most likely to develop this condition, it may also affect men, older adults and even infants. The exact cause of acute febrile neutrophilic dermatosis often isn't known. In some people, it's triggered by an infection, illness or certain medications. This condition can also occur with some types of cancer and other serious health problems. Most often, it isn't serious and will clear on its own in a few months. Healing is much more rapid, however, with treatment.
Question: What is (are) Hemochromatosis type 4 ?

Answer: Hemochromatosis type 4 is a disease in which too much iron builds up in the body.  This extra iron is toxic to the body and can damage the organs. Hemochromatosis is inherited in an autosomal dominant manner. It is caused by mutations in the SLC40A1 gene. Hemochromatosis may be aquired or hereditary. Hereditary hemochromatosis is classified by type depending on the age of onset and other factors such as genetic cause and mode of inheritance. To learn more about these types click on the disease names below: Hemochromatosis type 1 Hemochromatosis type 2 Hemochromatosis type 3 There is also a neonatal form of hemochromatosis: Neonatal hemochromatosis
Question: What is (are) Retinochoroidal coloboma ?

Answer: Retinochoroidal coloboma is an eye abnormality that occurs before birth. It is characterized by missing pieces of tissue in both the retina (the light-sensitive tissue lining the back of the eye) and choroid (the blood vessel layer under the retina). In many cases, retinochoroidal coloboma does not cause symptoms. However, complications such as retinal detachment may occur at any age. Other possible complications include loss of visual clarity or distorted vision; cataract; and abnormal blood vessel growth in the choroid (choroidal neovascularization). Retinochoroidal coloboma can involve one or both eyes, and may occur alone or in association with other birth defects. It can be inherited or can occur sporadically.
Question: What is (are) Hypomyelination with atrophy of basal ganglia and cerebellum ?

Answer: Hypomyelination with atrophy of basal ganglia and cerebellum (H-ABC) is a disease that affects certain parts of the brain.  Symptoms usually begin in infancy or early childhood and vary in severity; they include movement difficulties and delay in mental development or learning problems.  These symptoms occur because certain brain cells in individuals with H-ABC are not fully covered by myelin (hypomyelination), a substance that usually surrounds nerve cells to help them work better.  Also, this condition causes the breakdown (atrophy) of two parts of the brain that help to coordinate movement - the basal ganglia and cerebellum.  H-ABC is is caused by a mutation in the TUBB4A gene.
Question: What is (are) Metachromatic leukodystrophy ?

Answer: Metachromatic leukodystrophy is an inherited condition characterized by the accumulation of fats called sulfatides in cells, especially cells of the nervous system. This accumulation results in progressive destruction of white matter of the brain, which consists of nerve fibers covered by myelin. Affected individuals experience progressive deterioration of intellectual functions and motor skills, such as the ability to walk. They also develop loss of sensation in the extremities, incontinence, seizures, paralysis, inability to speak, blindness, and hearing loss. Eventually they lose awareness of their surroundings and become unresponsive. This condition is inherited in an autosomal recessive pattern and is caused by mutations in the ARSA and PSAP genes.
Question: What is (are) Hydrops, Ectopic calcification, Moth-eaten skeletal dysplasia ?

Answer: HEM (hydrops fetalis, ectopic calcifications, "moth-eaten" skeletal dysplasia) is a very rare type of lethal skeletal dysplasia. According to the reported cases of HEM in the medical literature, the condition's main features are hydrops fetalis, dwarfism with severely shortened limbs and relatively normal-sized hands and feet, a "moth-eaten" appearance of the skeleton, flat vertebral bodies and ectopic calcifications. HEM is an autosomal recessive condition caused by a mutation in the lamin B receptor (LBR) gene. No treatment or cure is currently known for HEM.
Question: What causes Pilomatrixoma ?

Answer: What causes a pilomatrixoma? The exact underlying cause of pilomatrixoma is not well understood. Changes (mutations) in the CTNNB1 gene are found in at least 75% of isolated (without other signs and symptoms) pilomatrixomas. These mutations are somatic, which means they are not inherited and are only present in the tumor cells. The CTNNB1 gene encodes a protein that is needed to regulate cell growth and attachment. When the gene is not working properly, it can result in abnormal cell growth. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. In these cases, affected people usually have other characteristic features of the associated condition.
Question: Is Pilomatrixoma inherited ?

Answer: Is a pilomatrixoma inherited? Most isolated (without other signs and symptoms) pilomatrixomas are not inherited. However, more than one family member can rarely be affected, which suggests there may be a hereditary component in some cases. Rarely, pilomatrixomas occur in people with certain genetic syndromes such as Gardner syndrome, myotonic dystrophy, and Rubinstein-Taybi syndrome. In these cases, affected people usually have other characteristic signs and symptoms of the associated condition. All three of these conditions are inherited in an autosomal dominant manner. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family.
Question: What are the treatments for Barraquer-Simons syndrome ?

Answer: How might Barraquer-Simons syndrome be treated? Surgery may be used to improve a person's appearance, but is not needed for medical reasons. Facial reconstruction techniques may be used with varying success. These techniques may include transplantation of fat tissue, silicone implants, movement of facial muscles, or other techniques. No specific diet is recommended for people with Barraquer-Simons syndrome and weight gain should be avoided. Regular exercise is recommended to improve a person's metabolic status. If a person with Barraquer-Simons syndrome has kidney problems, then they may also need to be managed. Treatment may involving a special diet or medications. Dialysis or a kidney transplant may be needed if the condition progresses to kidney failure.
Question: What are the symptoms of Chromosome 4q deletion ?

Answer: What are the signs and symptoms of chromosome 4q deletion? The signs and symptoms of chromosome 4q deletion vary significantly depending on the size and location of the deletion and which genes are involved. Common features that may be shared by affected people include: Distinctive craniofacial features such as a depressed nasal bridge, cleft lip/palate, and micrognathia Skeletal abnormalities including hip dysplasia and malformations of the fingers, toes, or limbs (arms/legs) Heart defects and/or arrhythmias Hypotonia (reduced muscle tone) Seizures Short stature Developmental delay Intellectual disability Metabolic disorders Gastrointestinal problems Kidney abnormalities
Question: What are the treatments for Chromosome 4q deletion ?

Answer: How might chromosome 4q deletion be treated? Because chromosome 4q deletion affects many different systems of the body, medical management is often provided by a team of doctors and other healthcare professionals. Treatment for this deletion varies based on the signs and symptoms present in each person. For example, babies with congenital heart defects and certain skeletal abnormalities may require surgery. Children with bone or muscle problems and/or delayed motor milestones (i.e. walking) may be referred for physical or occupational therapy. Certain medications may be prescribed to treat seizures. Special education services are often necessary for children with intellectual disability. Please speak to your healthcare provider if you have any questions about your personal medical management plan.
Question: What causes Pigmented villonodular synovitis ?

Answer: What causes pigmented villonodular synovitis? The exact cause of pigmented villonodular synovitis (PVNS) is unknown.  Some doctors believe that it is similar to arthritis, arising from swelling (inflammation) of the joint tissue. Others believe it develops like a tumor, caused by cells growing and multiplying more quickly than usual. The association between a history of trauma and the development of  PVNS is unclear. One study found that 56% of individuals with PVNS had a history of previous trauma, while other studies have found a much lower incidence.  There have been studies suggesting that PVNS could be caused by specific genetic changes in the cells lining the joint. More studies are needed to research this association.
Question: What are the treatments for HTLV-1 associated myelopathy/tropical spastic paraparesis ?

Answer: How might HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP) be treated? There is no established treatment program for HTLV-1 associated myelopathy/tropical spastic paraparesis (HAM/TSP).  Corticosteroids may relieve some symptoms, but arent likely to change the course of the disorder.  Clinical studies suggest that interferon alpha provides benefits over short periods and some aspects of disease activity may be improved favorably using interferon beta. Stiff and spastic muscles may be treated with lioresal or tizanidine.  Urinary dysfunction may be treated with oxybutynin.
Question: What is (are) VLCAD deficiency ?

Answer: VLCAD deficiency is a condition in which the body is unable to properly breakdown certain fats (called very long-chain fatty acids) into energy, particularly during periods without food (fasting). Signs and symptoms can occur during infancy, childhood or adulthood depending on the form of the condition and may include low blood sugar (hypoglycemia), lack of energy, and muscle weakness. Children affected by the most severe forms of the condition are also at risk of serious complications such as liver abnormalities and life-threatening heart problems. VLCAD deficiency is caused by changes (mutations) in the ACADVL gene and is inherited in an autosomal recessive manner. Treatment is based on the signs and symptoms present in each person.
Question: What is (are) Dermatofibrosarcoma protuberans ?

Answer: Dermatofibrosarcoma protuberans is an uncommon cancer in which tumors arise in the deeper layers of skin. The tumor usually starts as a small, firm patch of skin; it may be purplish, reddish, or flesh-colored. It is commonly found on the torso, usually in the shoulder and chest area. The tumor typically grows slowly but has a tendency to recur after being removed. It rarely spreads to other parts of the body. The cause of DFSP is unknown, but injury to the affected skin may be a predisposing factor. Treatment usually involves surgically removing the tumor. If the tumor is unable to be removed completely, additional therapy may be needed. Regular follow-up is important to monitor for recurrence.
Question: How to diagnose Parasites - Scabies ?

Answer: Diagnosis of a scabies infestation usually is made based upon the customary appearance and distribution of the the rash and the presence of burrows.
    
Whenever possible, the diagnosis of scabies should be confirmed by identifying the mite or mite eggs or fecal matter (scybala). This can be done by carefully removing the mite from the end of its burrow using the tip of a needle or by obtaining a skin scraping to examine under a microscope for mites, eggs, or mite fecal matter (scybala). However, a person can still be infested even if mites, eggs, or fecal matter cannot be found; fewer then 10-15 mites may be present on an infested person who is otherwise healthy.
Question: What is (are) trisomy 13 ?

Answer: Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia), extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate), and weak muscle tone (hypotonia). Due to the presence of several life-threatening medical problems, many infants with trisomy 13 die within their first days or weeks of life. Only five percent to 10 percent of children with this condition live past their first year.
Question: What are the genetic changes related to tetra-amelia syndrome ?

Answer: Researchers have found a mutation in the WNT3 gene in people with tetra-amelia syndrome from one large family. This gene is part of a family of WNT genes that play critical roles in development before birth. The protein produced from the WNT3 gene is involved in the formation of the limbs and other body systems during embryonic development. Mutations in the WNT3 gene prevent cells from producing functional WNT3 protein, which disrupts normal limb formation and leads to the other serious birth defects associated with tetra-amelia syndrome.  In other affected families, the cause of tetra-amelia syndrome has not been determined. Researchers believe that unidentified mutations in WNT3 or other genes involved in limb development are probably responsible for the disorder in these cases.
Question: What are the treatments for isolated growth hormone deficiency ?

Answer: These resources address the diagnosis or management of isolated growth hormone deficiency:  - Genetic Testing Registry: Ateleiotic dwarfism  - Genetic Testing Registry: Autosomal dominant isolated somatotropin deficiency  - Genetic Testing Registry: Isolated growth hormone deficiency type 1B  - Genetic Testing Registry: X-linked agammaglobulinemia with growth hormone deficiency  - MedlinePlus Encyclopedia: Growth Hormone Test   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 familial paroxysmal nonkinesigenic dyskinesia ?

Answer: Mutations in the PNKD gene cause familial paroxysmal nonkinesigenic dyskinesia. The function of the protein produced from the PNKD gene is unknown; however, it is similar to a protein that helps break down a chemical called methylglyoxal. Methylglyoxal is found in alcoholic beverages, coffee, tea, and cola. Research has demonstrated that this chemical has a toxic effect on nerve cells (neurons). It remains unclear if the PNKD gene is related to the breakdown of methlglyoxal. How mutations in the PNKD gene lead to the signs and symptoms of familial paroxysmal nonkinesigenic dyskinesia is also unknown.
Question: What are the treatments for craniometaphyseal dysplasia ?

Answer: These resources address the diagnosis or management of craniometaphyseal dysplasia:  - Gene Review: Gene Review: Craniometaphyseal Dysplasia, Autosomal Dominant  - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal dominant  - Genetic Testing Registry: Craniometaphyseal dysplasia, autosomal recessive type  - MedlinePlus Encyclopedia: Facial Paralysis   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