Ahmed062646/NLP_Medora_Datasets huggingface dataset:
Question: What are the treatments for Nephrocalcinosis ?
Answer: How might nephrocalcinosis be treated? Treatment of nephrocalcinosis includes treating the underlying condition causing nephrocalcinosis, if it is known. The goal of treatment is to reduce symptoms and prevent more calcium from being deposited in the kidneys. Measures are usually taken to reduce abnormal levels of calcium, phosphate, and oxalate in the blood. Medications that cause calcium loss are typically stopped. Treatment of hypercalcemia (increased calcium levels in the blood) and hypercalcemic nephropathy typically includes adequate hydration by isotonic sodium chloride (normal saline) solution to reverse hypercalcemia and protect the kidneys. Treatment of macroscopic nephrocalcinosis (calcium deposition that is visible without magnification) may include thiazide diuretics and dietary salt restriction; potassium and magnesium supplementation; and citrate supplementation in idiopathic hypercalciuria (of unknown cause) and in distal renal tubular acidosis. Lessening of nephrocalcinosis may occur over time, but in many cases, such as when it results from primary hyperoxaluria or distal renal tubular acidosis, nephrocalcinosis is largely irreversible. Therefore, early detection and treatment are important. Individuals interested in learning about treatment options for themselves should speak with their health care provider or a nephrologist.
Question: What is (are) Temporomandibular ankylosis ?
Answer: Temporomandibular ankylosis is a condition that occurs when the temporomandibular joint (the joint that connects the jaw to the side of the head) becomes fused by bony or fibrous tissue. As a result, affected people may experience pain, speech impairment, and difficulty chewing and swallowing. It can interfere with nutrition, oral hygiene and the normal growth of the face and/or jaw. Although the condition can be diagnosed in people of all ages, it generally occurs during the first and second decades of life. Temporomandibular ankylosis is most commonly caused by trauma or infection; it may also be associated with certain conditions such as ankylosing spondylitis, rheumatoid arthritis, or psoriasis. The condition is typically treated surgically.
Question: What is (are) Scurvy ?
Answer: Scurvy is a condition that develops in people who do not consume an adequate amount of vitamin C in their diet. Although scurvy is relatively rare in the United States, it continues to be a problem in malnourished populations around the world (such as impoverished, underdeveloped third world countries). Early features of the condition include general weakness, fatigue and aching limbs. If left untreated, more serious problems can develop such as anemia, gum disease, and skin hemorrhages. Symptoms generally develop after at least 3 months of severe or total vitamin C deficiency. Treatment consists of vitamin C supplements taken by mouth.
Question: What are the symptoms of Scurvy ?
Answer: What are the signs and symptoms of Scurvy? The Human Phenotype Ontology provides the following list of signs and symptoms for Scurvy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Permanent neonatal diabetes mellitus ?
Answer: Permanent neonatal diabetes mellitus (PNDB) is a type of diabetes that appears within the first 6 months of life and persists throughout life. Affected individuals have slow growth before birth followed by hyperglycemia, dehydration and failure to thrive in infancy. Some individuals also have neurological problems including developmental delay and epilepsy; when these problems are present with PNDB, it is called DEND syndrome. A few individuals with PNDB also have an underdeveloped pancreas and may have digestive problems. PNDB is caused by mutations in any one of several genes (some of which have not yet been identified) including the KCNJ11, ABCC8, and INS genes. It may be inherited in an autosomal recessive or autosomal dominant manner. Treatment includes rehydration, insulin therapy and/or long-term therapy with oral sulfonylureas (in some cases).
Question: What are the symptoms of Permanent neonatal diabetes mellitus ?
Answer: What are the signs and symptoms of Permanent neonatal diabetes mellitus? The Human Phenotype Ontology provides the following list of signs and symptoms for Permanent neonatal diabetes mellitus. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the ear - Abnormality of the immune system - Anteverted nares - Autosomal dominant inheritance - Beta-cell dysfunction - Clinodactyly - Diabetes mellitus - Downturned corners of mouth - Hyperglycemia - Hypsarrhythmia - Intrauterine growth retardation - Ketoacidosis - Limb joint contracture - Long philtrum - Motor delay - Muscle weakness - Muscular hypotonia of the trunk - Peripheral neuropathy - Prominent metopic ridge - Ptosis - Radial deviation of finger - Seizures - Small for gestational age - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: Is Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes inherited ?
Answer: How is mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) inherited? MELAS is caused by mutations in mitochondrial DNA (mtDNA) and is therefore transmitted by maternal inheritance (also called mitochondrial inheritance). This type of inheritance applies to all conditions caused by genes in mtDNA. Mitochondria are structures in each cell that turn molecules into energy, and each contain a small amount of DNA. Only egg cells (not sperm cells) contribute mitochondria to offspring, so only females can pass on mitochondrial mutations to their children. Conditions resulting from mutations in mtDNA can appear in every generation of a family and can affect both males and females. In most cases, people with MELAS inherit an altered mitochondrial gene from their mother. Less commonly, the condition results from a new mutation in a mitochondrial gene and occurs in an individual with no history of MELAS in the family.
Question: How to diagnose Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes ?
Answer: What are the genetic testing options for mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS)? Genetic testing for a particular condition is typically available from only a few clinical laboratories because these conditions are rare and the tests are ordered infrequently. It is not uncommon to send DNA samples to a laboratory in another state, or even to laboratories in Canada or Europe. Genetic tests are more complicated than standard blood tests and are usually much more expensive. Due to the high cost of these tests, insurance companies may or may not provide coverage. Doctors sometimes write a letter of medical necessity to the insurance company stating why a particular test is needed, which sometimes pursuades the insurance company to cover the test. These letters state the medical benefits that a person would receive from a test, and how the test would alter a person's medical care. GeneTests lists the names of laboratories that perform genetic testing. This resource lists the contact information for the clinical laboratories conducting genetic testing for MELAS. Another option is to participate in a research study that is performing genetic testing. While the cost of testing is often covered by the research funding, the tests may be more experimental and less accurate. In addition, results may not be reported to participants, or it may take a much longer time to receive any results. To access the contact information for the research laboratory performing genetic testing for mitochondrial disorders (including MELAS), click here. Please note: Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional.
Question: What is (are) Craniopharyngioma ?
Answer: A craniopharyngioma is a slow-growing benign tumor that develops near the pituitary gland (a small endocrine gland at the base of the brain) and the hypothalamus (a small cone-shaped organ connected to the pituitary gland by nerves). This tumor most commonly affects children between 5 and 10 years of age; however, adults can sometimes be affected. Craniopharyngiomas are thought to arise from remnants of the craniopharyngeal duct and/or Rathke cleft or from metaplasia (abnormal transformation of cells) of squamous epithelial cell remnants of the stomadeum.[orphanet] Craniopharyngioma is treated with surgery alone or by surgery followed by radiation.
Question: What are the symptoms of Craniopharyngioma ?
Answer: What symptoms may be associated with craniopharyngioma? Craniopharyngioma causes symptoms in three different ways: by increasing the pressure on the brain (intracranial pressure) by disrupting the function of the pituitary gland by damaging the optic nerve Increased pressure on the brain causes headache, nausea, vomiting (especially in the morning), and difficulty with balance. Damage to the pituitary gland causes hormone imbalances that can lead to excessive thirst and urination (diabetes insipidus) and stunted growth. When the optic nerve is damaged by the tumor, vision problems develop. These defects are often permanent, and may be worse after surgery to remove the tumor. Most patients have at least some visual defects and evidence of decreased hormone production at the time of diagnosis.
Question: What causes Craniopharyngioma ?
Answer: What causes craniopharyngioma? Craniopharyngiomas are thought to arise from epithelial remnants of the craniopharyngeal duct or Rathke's pouch (adamantinomatous type tumours) or from metaplasia of squamous epithelial cell rests that are remnants of the part of the stomadeum that contributed to the buccal mucosa (squamous papillary type tumours).
Question: What are the treatments for Craniopharyngioma ?
Answer: How might craniopharyngiomas be treated? Traditionally, surgery has been the main treatment for craniopharyngioma. However, radiation treatment instead of surgery may be the best choice for some patients. In tumors that cannot be removed completely with surgery alone, radiation therapy is usually necessary. If the tumor has a classic appearance on CT scan, then even a biopsy may not be necessary, if treatment with radiation alone is planned. This tumor is best treated at a center with experience managing craniopharyngiomas.
Question: What are the symptoms of Macular dystrophy, corneal type 1 ?
Answer: What are the signs and symptoms of Macular dystrophy, corneal type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Macular dystrophy, corneal type 1. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Corneal dystrophy - Juvenile onset - Macular dystrophy - Photophobia - Punctate opacification of the cornea - Recurrent corneal erosions - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Poland syndrome ?
Answer: Poland syndrome is characterized by an underdeveloped or absent chest muscle on one side of the body, absence of the breastbone portion (sternal) of the chest muscle, and webbing of the fingers of the hand on the same side. The cause of Poland syndrome is not known. This syndrome is nearly always sporadic. It tends to occur on the right side and is more common in boys than girls. Treatment typically involves surgical correction of the chest wall deformities.
Question: What causes Poland syndrome ?
Answer: What causes Poland syndrome? The cause of Poland syndrome is unknown. Most evidence supports the idea that something abnormal happens during the sixth week of fetal development. This event most likely involves the vascular (blood and lymph) system. Speculations include: An interruption of the embryonic blood supply of the arteries that lie under the collarbone (subclavian arteries). This could be caused by the forward growth of the ribs reducing the flow of blood. A malformation of the subclavian arteries causes a reduced amount of blood delivered to the developing tissues on one side of the body.
Question: Is Poland syndrome inherited ?
Answer: Is Poland syndrome inherited? Poland syndrome is rarely inherited and generally sporadic. Sporadic refers to the chance occurrence of a non-genetic disorder or abnormality that is not likely to recur in a family. In the few reported familial cases, researchers suggest that the condition may have stemmed from an inherited susceptibility to events such as interruption of blood flow that may predispose a person to the anomaly (i.e., make a person more likely to develop the anomaly).
Question: How to diagnose Poland syndrome ?
Answer: When is Poland syndrome typically first diagnosed? The severity of Poland syndrome differs from person to person. As a result it is not often diagnosed or reported. Sometimes, a person does not realize they have the condition until puberty, when lopsided (asymmetrical) growth makes it more obvious.
Question: What are the treatments for Poland syndrome ?
Answer: How might Poland syndrome be treated? Management of Poland syndrome may include surgical correction of the chest wall deformities. Surgical options are available to improve appearance in both males and females. In females, breast reconstruction is typically performed at the time of normal full breast development and can be planned in conjunction with or following reconstruction of the chest wall. In males reconstruction of the chest may not be necessary if there is no underlying chest wall deformity. The optimal surgical approach will vary from patient to patient. Surgical options should be discussed with a surgeon familiar with reconstructive surgery in people with Poland syndrome.
Question: What is (are) Neutral lipid storage disease with myopathy ?
Answer: Neutral lipid storage disease with myopathy is a condition in which fats (lipids) are stored abnormally in organs and tissues throughout the body. The accumulation of fats in muscle tissue leads to muscle weakness (myopathy). This condition is caused by mutations in the PNPLA2 gene. It is inherited in an autosomal recessive pattern. There is currently no treatment to correct the underlying metabolic problem.
Question: What causes Neutral lipid storage disease with myopathy ?
Answer: What causes neutral lipid storage disease with myopathy? Neutral lipid storage disease with myopathy is caused by mutations in the PNPLA2 gene. This gene provides instructions for making an enzyme called adipose triglyceride lipase (ATGL). The ATGL enzyme plays a role in breaking down fats called triglycerides. Triglycerides are an important source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. PNPLA2 gene mutations impair the ATGL enzyme's ability to break down triglycerides, allowing them to accumulate in muscle and tissues throughout the body. This results in the signs and symptoms seen in people with neutral lipid storage disease with myopathy.
Question: Is Neutral lipid storage disease with myopathy inherited ?
Answer: How is neutral lipid storage disease with myopathy inherited? This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.
Question: What are the treatments for Neutral lipid storage disease with myopathy ?
Answer: How might neutral lipid storage disease with myopathy be treated? To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may benefit from bezafibrate (a medication used to treat high cholesterol) treatment, particularly with respect to lipid accumulation and fat oxidative capacity. Additional studies into this therapy are needed.
Question: What is (are) Glutaric acidemia type I ?
Answer: Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (particularly the basal ganglia, which helps control movement). Specific symptoms and severity vary, but features may include macrocephaly; difficulty moving; having jerking, rigidity, or decreased muscle tone; and/or intellectual disability. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. Treatment includes strict dietary control, which may limit progression of symptoms.
Question: Is Glutaric acidemia type I inherited ?
Answer: How is glutaric acidemia type I inherited? Glutaric acidemia type I is inherited in an autosomal recessive manner. This means that both copies of the responsible gene in each cell must have mutations for a person to be affected. The parents of a person with an autosomal recessive condition typically each carry one mutated copy of the gene and are referred to as carriers. Carriers of an autosomal recessive condition typically are unaffected and have no signs or symptoms. When two carrier parents have children, each child has a 25% (1 in 4) chance to be affected, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to be unaffected and not be a carrier.
Question: How to diagnose Glutaric acidemia type I ?
Answer: Is genetic testing available for glutaric acidemia type I? Yes. The Genetic Testing Registry (GTR) provides information about the labs that offer genetic testing for this condition. The intended audience for the GTR is health care providers and researchers. Therefore, patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Question: What is (are) Pyoderma gangrenosum ?
Answer: Pyoderma gangrenosum is a rare, destructive inflammatory skin disease of which a painful nodule or pustule breaks down to form a progressively enlarging ulcer. Lesions may occur either in the absence of any apparent underlying disorder or in association with other diseases, such as ulcerative colitis, Crohn's disease, polyarthritis (an inflammation of several joints together), gammopathy, and other conditions . Pyoderma gangrenosum belongs to a group of skin diseases in which a common cellular denominator is the neutrophil. Neutrophils are a type of white blood cell or leukocyte which form an early line of defense against bacterial infections. Each year in the United States, pyoderma gangrenosum occurs in about 1 person per 100.000 people.
Question: What are the symptoms of Pyoderma gangrenosum ?
Answer: What are the signs and symptoms of Pyoderma gangrenosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyoderma gangrenosum. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Myositis 90% Pulmonary infiltrates 90% Skin rash 90% Skin ulcer 90% Abnormal blistering of the skin 50% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.