umarjan11/Medical-qna huggingface dataset:
Question: How to diagnose Pseudohypoaldosteronism type 2 ?

Answer: How is pseudohypoaldosteronism type 2 diagnosed? Pseudohypoaldosteronism type 2 is usually diagnosed in adults. Unexplained hyperkalemia may be the presenting symptom and Pseudohypoaldosteronism type 2 may be diagnosed after common causes of hyperkalemia have been ruled out. Mildly elevated levels of chloride ion in the blood, metabolic acidosis, and suppressed plasma renin activity are variably associated with this condition as well. Aldosterone levels may vary from high to low.
Question: What are the treatments for Antisynthetase syndrome ?

Answer: What treatment is available for antisynthetase syndrome? Corticosteroids are typically the first-line of treatment and may be required for several months or years. These medications are often given orally; however, in severe cases, intravenous methylprednisolone may be prescribe initially. Immunosuppressive medications may also be recommended, especially in people with severe muscle weakness or symptomatic interstitial lung disease. Physical therapy is often necessary to improve weakness, reduce further muscle wasting from disuse, and prevent muscle contractures.
Question: What is (are) Laron syndrome ?

Answer: Laron syndrome is a condition that occurs when the body is unable to utilize growth hormone. It is primarily characterized by short stature. Other signs and symptoms vary but may include reduced muscle strength and endurance; hypoglycemia in infancy; delayed puberty; short limbs (arms and legs); and obesity. It is often caused by changes (mutations) in the GHR gene and is inherited in an autosomal recessive manner. Treatment is focused on improving growth and generally includes injections of insulin-like growth factor 1 (IGF-1).
Question: What is (are) 2q37 deletion syndrome ?

Answer: 2q37 deletion syndrome is a rare chromosome condition that can affect many parts of the body. Approximately 100 cases have been reported worldwide. This condition is characterized by weak muscle tone (hypotonia) in infancy, mild to severe intellectual disability and developmental delay, behavioral problems, characteristic facial features, and other physical abnormalities. 2q37 deletion syndrome is caused by a deletion of the genetic material from a specific region in the long (q) arm of chromosome 2. Most cases are not inherited.
Question: Is McCune Albright syndrome inherited ?

Answer: Is McCune Albright syndrome inherited? McCune Albright syndrome (MAS) is not inherited. It is caused by a random change (mutation) in the GNAS gene that occurs very early in development. As a result, some of the body's cells have a normal version of the GNAS gene, while other cells have the mutated version. This phenomenon is called mosaicism. The severity of this disorder and its specific features depend on the number and location of cells that have the mutated GNAS gene. This mutation is not passed on to any of the affected individual's children.
Question: What are the treatments for Peters plus syndrome ?

Answer: What treatment is available for Peters plus syndrome? Treatment varies from person to person and is based on the extent of the disease. Once a person has been diagnosed with Peters plus syndrome, the following evaluations are recommended : Eye examination Growth hormone testing Developmental assessment Heart examination Kidney examination Head examination Thyroid testing Hearing assessment Assessment by a ophthalmologist every three months or as indicated is recommended as well as regular developmental assessments. Agents, like corticosteroids, should be avoided, as they increase the risk of glaucoma.
Question: What is (are) Northern epilepsy ?

Answer: Northern epilepsy is a rare condition that affects the nervous system. Signs and symptoms of the condition generally develop between ages 5 and 10 years and may include recurrent seizures, mild intellectual disability, and motor abnormalities (i.e. problems with coordination and balance). Some affected people may also experience decreased visual acuity. Northern epilepsy is caused by changes (mutations) in the CLN8 gene and is inherited in an autosomal recessive manner. Treatment options are limited to therapies that can help relieve some of the symptoms.
Question: How to diagnose Parasites - Zoonotic Hookworm ?

Answer: Cutaneous larva migrans (CLM) is a clinical diagnosis based on the presence of the characteristic signs and symptoms, and exposure history to zoonotic hookworm. For example, the diagnosis can be made based on finding red, raised tracks in the skin that are very itchy. This is usually found on the feet or lower part of the legs on persons who have recently traveled to tropical areas and spent time at the beach. There is no blood test for zoonotic hookworm infection. Persons who think they have CLM should consult their health care provider for accurate diagnosis.
Question: what research (or clinical trials) is being done for Spinal Muscular Atrophy ?

Answer: Between 2003 and 2012, the NINDS piloted the Spinal Muscular Atrophy Project to expedite therapeutics development for this hereditary neurodegenerative disease. The Project was designed to accelerate the research process by identifying drugs that increase the level of SMN protein in cultured cells, so that they could be used as potential leads for further drug discovery and clinical testing. Read more about the history of this pioneering effort and how it led to collaboration with several pharmaceutical and biotechnology companies.
Question: What are the treatments for Aicardi-Goutieres Syndrome Disorder ?

Answer: Depending upon the severity of symptoms, children may require chest physiotherapy and treatment for respiratory complications. To ensure adequate nutrition and caloric intake, some infants may require special accommodations for diet and feeding. Seizures may be managed with standard anticonvulsant medications. Children should be monitored for evidence of glaucoma in the first few months of life, and later for evidence of scoliosis, diabetes, and underactive thyroid.The prognosis depends upon the severity of symptoms.
Question: What are the treatments for Chronic Inflammatory Demyelinating Polyneuropathy (CIDP) ?

Answer: Treatment for CIDP includes corticosteroids such as prednisone, which may be prescribed alone or in combination with immunosuppressant drugs. Plasmapheresis (plasma exchange) and intravenous immunoglobulin (IVIg) therapy are effective. IVIg may be used even as a first-line therapy. Physiotherapy may improve muscle strength, function and mobility, and minimize the shrinkage of muscles and tendons and distortions of the joints.
Question: What are the treatments for medullary cystic kidney disease type 1 ?

Answer: These resources address the diagnosis or management of medullary cystic kidney disease type 1:  - MedlinePlus Encyclopedia: Medullary Cystic Kidney Disease  - Merck Manual for Health Care Professionals: Nephronophthisis and Medullary Cystic Kidney Disease Complex   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 Shprintzen-Goldberg syndrome inherited ?

Answer: Shprintzen-Goldberg syndrome is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) gene mutations and occurs in people with no history of the disorder in their family. Very rarely, people with Shprintzen-Goldberg syndrome have inherited the altered gene from an unaffected parent who has a gene mutation only in their sperm or egg cells. When a mutation is present only in reproductive cells, it is known as germline mosaicism.
Question: Is hereditary cerebral amyloid angiopathy inherited ?

Answer: Hereditary cerebral amyloid angiopathy caused by mutations in the APP, CST3, or ITM2B gene is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.  There is also a non-hereditary form of cerebral amyloid angiopathy that occurs in people with no history of the disorder in their family. The cause of this form of the condition is unknown. These cases are described as sporadic and are not inherited.
Question: What are the treatments for primary spontaneous pneumothorax ?

Answer: These resources address the diagnosis or management of primary spontaneous pneumothorax:  - Genetic Testing Registry: Pneumothorax, primary spontaneous  - MedlinePlus Encyclopedia: Chest Tube Insertion  - MedlinePlus Encyclopedia: Collapsed Lung  - Merck Manual for Patients and Caregivers   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 treatments for fatty acid hydroxylase-associated neurodegeneration ?

Answer: These resources address the diagnosis or management of fatty acid hydroxylase-associated neurodegeneration:  - Gene Review: Gene Review: Fatty Acid Hydroxylase-Associated Neurodegeneration  - Genetic Testing Registry: Spastic paraplegia 35   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 treatments for platyspondylic lethal skeletal dysplasia, Torrance type ?

Answer: These resources address the diagnosis or management of platyspondylic lethal skeletal dysplasia, Torrance type:  - Genetic Testing Registry: Platyspondylic lethal skeletal dysplasia Torrance type  - MedlinePlus Encyclopedia: Lordosis   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 recombinant 8 syndrome ?

Answer: Recombinant 8 syndrome is caused by a rearrangement of chromosome 8 that results in a deletion of a piece of the short (p) arm and a duplication of a piece of the long (q) arm. The deletion and duplication result in the recombinant 8 chromosome. The signs and symptoms of recombinant 8 syndrome are related to the loss and addition of genetic material on these regions of chromosome 8. Researchers are working to determine which genes are involved in the deletion and duplication on chromosome 8.
Question: Is nemaline myopathy inherited ?

Answer: Nemaline myopathy is usually 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.  Less often, this condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Question: Is Mayer-Rokitansky-Kster-Hauser syndrome inherited ?

Answer: Most cases of MRKH syndrome occur in people with no history of the disorder in their family.  Less often, MRKH syndrome is passed through generations in families. Its inheritance pattern is usually unclear because the signs and symptoms of the condition frequently vary among affected individuals in the same family. However, in some families, the condition appears to have an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is typically sufficient to cause the disorder, although no genes have been associated with MRKH syndrome.
Question: What are the treatments for microvillus inclusion disease ?

Answer: These resources address the diagnosis or management of microvillus inclusion disease:  - Children's Hospital of Pittsburgh  - Genetic Testing Registry: Congenital microvillous atrophy  - Great Ormond Street Hospital for Children (UK): Intestinal Assessment  - International Microvillus Inclusion Disease Patient Registry   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 treatments for ALG12-congenital disorder of glycosylation ?

Answer: These resources address the diagnosis or management of ALG12-CDG:  - Gene Review: Gene Review: Congenital Disorders of N-Linked Glycosylation Pathway Overview  - Genetic Testing Registry: Congenital disorder of glycosylation type 1G   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 treatments for McCune-Albright syndrome ?

Answer: These resources address the diagnosis or management of McCune-Albright syndrome:  - Gene Review: Gene Review: Fibrous Dysplasia/McCune-Albright Syndrome  - Genetic Testing Registry: McCune-Albright syndrome  - MedlinePlus Encyclopedia: McCune-Albright syndrome   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: How to diagnose Polycythemia Vera ?

Answer: Special blood tests are used to diagnose polycythemia vera. In addition to a complete blood count, bone marrow aspiration and biopsy, and cytogenetic analysis, a serum erythropoietin test is used to diagnose polycythemia vera. In this test, a sample of blood is checked for the level of erythropoietin (a hormone that stimulates new red blood cells to be made). In polycythemia vera, the erythropoietin level would be lower than normal because the body does not need to make more red blood cells.
Question: Who is at risk for Small Intestine Cancer? ?

Answer: Diet and health history can affect the risk of developing small intestine cancer. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Risk factors for small intestine cancer include the following:         - Eating a high-fat diet.    - Having Crohn disease.     - Having celiac disease.    -  Having familial adenomatous polyposis (FAP).
Question: What is (are) Swyer-James syndrome ?

Answer: Swyer-James syndrome is a rare condition in which the lung (or portion of the lung) does not grow normally and is slightly smaller than the opposite lung, usually following bronchiolitis in childhood. It is typically diagnosed after a chest X-ray or CT scan which shows unilateral pulmonary hyperlucency (one lung appearing less dense) and diminished pulmonary arteries. Affected individuals may not have any symptoms, or more commonly, they may have recurrent pulmonary infections and common respiratory symptoms. The cause of the condition is not completely understood.
Question: What is (are) Pyogenic granuloma ?

Answer: Pyogenic granuloma are small, reddish bumps on the skin that bleed easily due to an abnormally high number of blood vessels. They typically occur on the hands, arms, or face. While the exact cause of pyogenic granulomas is unknown, they often appear following injury. Pyogenic granuloma is often observed in infancy and childhood, but may also be observed in adults, particularly in pregnant women. Small pyogenic granulomas may go away on their own. Larger lesions are treated with surgery, electrocautery, freezing, or lasers.
Question: What is (are) Hereditary cerebral hemorrhage with amyloidosis ?

Answer: Cerebral amyloid angiopathy (CAA) is a neurological condition in which amyloid protein is deposited onto the walls of the arteries of the brain (and less frequently, veins).  Although CAA often does not cause symptoms, it may cause bleeding into the brain (hemorrhagic stroke), dementia, or neurologic episodes in some patients.  The majority of CAA cases occur in individuals who do not have a family history. However, two familial forms of CAA have been identified.
Question: What is (are) Tularemia ?

Answer: Tularemia is an infection common in wild rodents caused by the bacterium Francisella tularensis. It is transmitted to humans by contact with infected animal tissues or by ticks, biting flies, and mosquitoes. The condition is most common in North America and parts of Europe and Asia. It is very rare in the United States. The illness, which is characterized by fever, chills, headache, joint pain and muscle weakness, may continue for several weeks after symptoms begin. Streptomycin and tetracycline are commonly used to treat the infection.
Question: What causes Binswanger's disease ?

Answer: What causes Binswanger's disease? Binswanger's disease occurs when the blood vessels that supply the deep structures of the brain become obstructed (blocked). As the arteries become more and more narrowed, the blood supplied by those arteries decreases and brain tissue dies. This can be caused by atherosclerosis, thromboembolism (blood clots) and other diseases such as CADASIL. Risk factors for Binswanger's disease include: Hypertension Smoking Hypercholesterolemia Heart disease Diabetes mellitus
Question: Is Marfan syndrome inherited ?

Answer: How is Marfan syndrome inherited? Marfan syndrome is inherited in an autosomal dominant manner. All individuals inherit 2 copies of each gene. In autosomal dominant conditions, an individual only has to have 1 mutation in the gene to develop the condition. The mutation can be inherited from a parent, or can happen by chance for the first time in an individual. Each child of an individual with Marfan syndrome has a 50% chance of inheriting the mutation and the disorder. Offspring who inherit the mutation will have Marfan syndrome, although they could be more or less severely affected than their parent.
Question: What is (are) Inclusion body myositis ?

Answer: Inclusion body myositis (IBM) is an inflammatory myopathy that is characterized by chronic, progressive muscle inflammation and muscle weakness. Symptoms usually begin after the age of 50, although the condition can occur earlier. The onset of muscle weakness usually occurs over months or years. This condition affects both the proximal (close to the trunk of the body) and distal (further away from the trunk) muscles. There is currently no effective treatment for IBM. The cause is unclear in most cases, but it can sometimes be inherited.
Question: What is (are) Juvenile amyotrophic lateral sclerosis ?

Answer: Juvenile amyotrophic lateral sclerosis (ALS) is a type of motor neuron disease which leads to problems with muscle control and movement. Signs and symptoms of juvenile ALS tend to present by age 25 years or younger.  Unlike other types of ALS, juvenile ALS is not rapidly progressive. People with juvenile ALS can have a normal life expectancy. Juvenile ALS is often genetic and may be inherited in an autosomal dominant or autosomal recessive fashion.
Question: Is CADASIL inherited ?

Answer: How is CADASIL inherited? CADASIL is inherited in an autosomal dominant manner. This means that having a mutation in only one copy of the responsible gene in each cell is enough to cause CADASIL. In most cases, an affected person inherits the mutated gene from an affected parent. In rare cases, CADASIL may result from having a new mutation in the gene, in which case it is not inherited from a parent. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene.
Question: What is (are) Carney complex ?

Answer: Carney complex is an inherited condition characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, endocrine tumors or over-activity, and schwannomas. Some families with this condition have been found to have mutations in the PRKAR1A gene. Carney complex is believed to be inherited in an autosomal dominant manner, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent.
Question: How to diagnose Laron syndrome ?

Answer: How is Laron syndrome diagnosed? A diagnosis of Laron syndrome is often suspected based on the presence of characteristic signs and symptoms. Additional testing can then be ordered to confirm the diagnosis and rule out other conditions that cause similar features. This generally includes blood tests to measure the levels of certain hormones that are often abnormal in people with Laron syndrome. For example, affected people may have elevated levels of growth hormone and reduced levels of insulin-like growth factor I. Genetic testing for changes (mutations) in the GHR gene can also be used to confirm a diagnosis in some cases.
Question: What are the symptoms of Achalasia ?

Answer: What are the signs and symptoms of achalasia? Most people with achalasia experience difficulty swallowing, also known as dysphagia and heartburn. Other symptoms might include: regurgitation or vomiting, noncardiac chest pain, odynophagia (painful swallowing), and pain in the upper central region of the abdomen. Non esophageal symptoms might include: coughing or asthma, chronic aspiration (breathing a foreign object such as food into the airway), hoarseness or sore throat, and unintentional weight loss.
Question: What is (are) Eales disease ?

Answer: Eales disease is a rare vision disorder that appears as an inflammation and white haze around the outercoat of the veins in the retina. This condition is most common among young males and normally affects both eyes. In most cases, vision becomes suddenly blurred because the vitreous, the clear jelly that fills the eyeball behind the lens of the eye, seeps out. Treatment includes corticosteroids in the inflammation stage and photocoagulation in the proliferative stage of the disease. Visual prognosis is good if treatment begins early in the course of the disease.
Question: What is (are) Hyperprolinemia type 2 ?

Answer: Hyperprolinemia type 2 results in an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound called pyrroline-5-carboxylate. Some people with this condition develop mild mental retardation and seizures; however, the symptoms of this disorder vary in severity among affected individuals.
Question: What are the treatments for Alpers' Disease ?

Answer: There is no cure for Alpers' disease and no way to slow its progression. Treatment is symptomatic and supportive. Anticonvulsants may be used to treat the seizures, but at times the seizures do not respond well to therapy, even at high doses. Therefore, the benefit of seizure control should be weights against what could be excessive sedation from the anticonvulsant.. Valproate should not be used since it can increase the risk of liver failure. Physical therapy may help to relieve spasticity and maintain or increase muscle tone.