umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Spinocerebellar ataxia autosomal recessive 8 ?

Answer: What are the signs and symptoms of Spinocerebellar ataxia autosomal recessive 8? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia autosomal recessive 8. 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) Incoordination 90% Cerebellar atrophy - Dysarthria - Dysmetria - Gait ataxia - Limb ataxia - Nystagmus - 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 are the symptoms of Hawkinsinuria ?

Answer: What are the signs and symptoms of Hawkinsinuria? The Human Phenotype Ontology provides the following list of signs and symptoms for Hawkinsinuria. 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) Abnormal hair quantity 90% Fine hair 90% Muscular hypotonia 50% Hypothyroidism 7.5% 4-Hydroxyphenylacetic aciduria - 4-Hydroxyphenylpyruvic aciduria - Autosomal dominant inheritance - Failure to thrive - Hypertyrosinemia - Metabolic acidosis - 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 Kallmann syndrome inherited ?

Answer: How is Kallmann syndrome inherited? Kallmann syndrome (KS) may be inherited in an X-linked recessive, autosomal dominant, or autosomal recessive manner depending on the gene(s) responsible. For example: KS due to mutations in the KAL1 gene (also called the ANOS1 gene), causing Kallmann syndrome 1, is inherited in an X-linked recessive manner. KS due to mutations in the FGFR1, PROKR2, PROK2, CHD7 or FGF8 genes (causing KS types 2, 3, 4, 5 and 6, respectively) is predominantly inherited in an autosomal dominant manner. KS due to mutations in PROKR2 and PROK2 can also be inherited in an autosomal recessive manner. In the majority of people with KS, the family history appears to be negative (the condition occurs sporadically). However, affected people are still at risk to pass the disease-causing mutation(s) on to their children, or to have an affected child. The risk for each child to be affected depends on the genetic cause in the affected person and may be up to 50%. People with personal questions about the genetic cause and inheritance of KS are encouraged to speak with a genetic counselor or other genetics professional. The genetic cause in many cases remains unknown, and a thorough family history should be obtained to understand the mode of inheritance in each family and to aid in genetic testing and counseling. Information about specific features present or absent in all family members can help determine the mode of inheritance present.
Question: What are the symptoms of Diffuse mesangial sclerosis ?

Answer: What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. 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) Focal segmental glomerulosclerosis 5% Autosomal recessive inheritance - Childhood onset - Diffuse mesangial sclerosis - Nephroblastoma (Wilms tumor) - Nephrotic syndrome - Progressive - Renal insufficiency - 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 are the symptoms of Glucocorticoid-remediable aldosteronism ?

Answer: What are the signs and symptoms of Glucocorticoid-remediable aldosteronism? The Human Phenotype Ontology provides the following list of signs and symptoms for Glucocorticoid-remediable aldosteronism. 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 urinary system - Adrenal hyperplasia - Adrenogenital syndrome - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Onset - 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: How to diagnose Parasites - Baylisascaris infection ?

Answer: If you suspect you have been infected, consult your health care provider immediately. Be sure to tell your health care provider if you have recently been exposed to raccoons or their feces.
    
Diagnosis is difficult because symptoms depend on the number of infecting larvae and location in the body. Ocular larva migrans, when the larvae migrate to the eye, can cause sensitivity to light, inflammation of the eye, and blindness. Symptoms of visceral larva migrans, when the larvae travel to organs, depend on which organs are affected. For example, an invasion of the liver may cause hepatomegaly (inflammation and enlargement of the liver), while an invasion of the lung may cause pulmonary symptoms such as cough or chest pain. Larvae rarely end up in the nervous system but the most severe cases are neural larva migrans, when the larvae migrate into the brain and cause it to swell (encephalitis). There is no commercially available test for Baylisascaris infection. A health care provider may test blood, cerebrospinal fluid (CSF), and tissue to determine if an individual is infected. Eye examinations may reveal a migrating larva or lesions and are often the most significant clue to infection with Baylisascaris.
    
Diagnosis often is made by ruling out other infections that cause similar symptoms. Information on diagnosis and testing can be obtained through your local or state health department or CDC.
    
More on: Resources for Health Professionals: Diagnosis
Question: What is (are) Iniencephaly ?

Answer: Iniencephaly is a rare birth defect caused by improper closure of the neural tube (the part of a human embryo that becomes the brain and spinal cord) during fetal development.  Iniencephaly is in the same family of neural tube defects as spina bifida, but it is more severe. In iniencephaly, the defect results in extreme retroflexion (backward bending) of the head combined with severe distortion of the spine. Diagnosis is made immediately after birth because an infants head is so severely bent backward that the face looks upward. In most infants the neck is absent and the skin of the face is connected directly to the skin of the chest, while the scalp is directly connected to the skin of the back. Most infants with iniencephaly have additional birth defects, such as anencephaly (in which major sections of the brain fail to form), cephalocele (in which part of the cranial contents protrudes from the skull), and cyclopia (in which the two cavities of the eyes fuse into one). Additional birth defects include the lack of a lower jaw bone or a cleft lip and palate. Other parts of the body may be affected, and infants can have cardiovascular disorders, diaphragmatic hernias, and gastrointestinal malformations. For reasons that are still unknown, the disorder is more common among females. No single gene has been identified as the cause for iniencephaly, or any of the neural tube defects. Scientists think these defects have complex causes, mostly likely a mix of genetic and environmental factors.
Question: What are the genetic changes related to Zellweger spectrum disorder ?

Answer: Mutations in at least 12 genes have been found to cause Zellweger spectrum disorder. These genes provide instructions for making a group of proteins known as peroxins, which are essential for the formation and normal functioning of cell structures called peroxisomes. Peroxisomes are sac-like compartments that contain enzymes needed to break down many different substances, including fatty acids and certain toxic compounds. They are also important for the production of fats (lipids) used in digestion and in the nervous system. Peroxins assist in the formation (biogenesis) of peroxisomes by producing the membrane that separates the peroxisome from the rest of the cell and by importing enzymes into the peroxisome.  Mutations in the genes that cause Zellweger spectrum disorder prevent peroxisomes from forming normally. Diseases that disrupt the formation of peroxisomes, including Zellweger spectrum disorder, are called peroxisome biogenesis disorders. If the production of peroxisomes is altered, these structures cannot perform their usual functions. The signs and symptoms of Zellweger syndrome are due to the absence of functional peroxisomes within cells. NALD and infantile Refsum disease are caused by mutations that allow some peroxisomes to form.  Mutations in the PEX1 gene are the most common cause of Zellweger spectrum disorder and are found in nearly 70 percent of affected individuals. The other genes associated with Zellweger spectrum disorder each account for a smaller percentage of cases of this condition.
Question: What are the genetic changes related to 3-hydroxyacyl-CoA dehydrogenase deficiency ?

Answer: Mutations in the HADH gene cause 3-hydroxyacyl-CoA dehydrogenase deficiency. The HADH gene provides instructions for making an enzyme called 3-hydroxyacyl-CoA dehydrogenase.  Normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. The 3-hydroxyacyl-CoA dehydrogenase enzyme is required for a step that metabolizes groups of fats called medium-chain fatty acids and short-chain fatty acids.  Mutations in the HADH gene lead to a shortage of 3-hydroxyacyl-CoA dehydrogenase. Medium-chain and short-chain fatty acids cannot be metabolized properly without sufficient levels of this enzyme. As a result, these fatty acids are not converted to energy, which can lead to characteristic features of 3-hydroxyacyl-CoA dehydrogenase deficiency, such as lethargy and hypoglycemia. Medium-chain and short-chain fatty acids that are not broken down can build up in tissues and damage the liver, heart, and muscles, causing serious complications.  Conditions that disrupt the metabolism of fatty acids, including 3-hydroxyacyl-CoA dehydrogenase deficiency, are known as fatty acid oxidation disorders.
Question: What to do for Primary Hyperparathyroidism ?

Answer: Eating, diet, and nutrition have not been shown to play a role in causing or preventing primary hyperparathyroidism.
                
Vitamin D. Experts suggest correcting vitamin D deficiency in people with primary hyperparathyroidism to achieve a serum level of 25-hydroxy-vitamin D greater than 20 nanograms per deciliter (50 nanomoles per liter). Research is ongoing to determine optimal doses and regimens of vitamin D supplementation for people with primary hyperparathyroidism.
                
For the healthy public, the Institute of Medicine (IOM) guidelines for vitamin D intake are
                
- people ages 1 to 70 years may require 600 International Units (IUs)  - people age 71 and older may require as much as 800 IUs
                
The IOM also recommends that no more than 4,000 IUs of vitamin D be taken per day.
                
Calcium. People with primary hyperparathyroidism without symptoms who are being monitored do not need to restrict calcium in their diet. People with low calcium levels due to loss of all parathyroid tissue from surgery will need to take calcium supplements for the rest of their life.
                
To help ensure coordinated and safe care, people should discuss their use of complementary and alternative medicine practices, including their use of dietary supplements, with their health care provider. Tips for talking with health care providers are available through the National Center for Complementary and Integrative Health.
Question: How to diagnose Lung Cancer ?

Answer: Doctors can perform several tests to stage lung cancer. Staging means finding out how far the cancer has progressed. The following tests are used to stage lung cancer: - Computerized tomography or CAT scan is a computer linked to an x-ray machine that creates a series of detailed pictures of areas inside the body. Computerized tomography or CAT scan is a computer linked to an x-ray machine that creates a series of detailed pictures of areas inside the body. - Magnetic resonance imaging, or MRI, is a powerful magnet linked to a computer that makes detailed pictures of areas inside the body.  - Radionuclide scanning uses a mildly radioactive substance to show whether cancer has spread to other organs, such as the liver. Magnetic resonance imaging, or MRI, is a powerful magnet linked to a computer that makes detailed pictures of areas inside the body. Radionuclide scanning uses a mildly radioactive substance to show whether cancer has spread to other organs, such as the liver. - A bone scan uses a small amount of a radioactive substance to show whether cancer has spread to the bones.  - A mediastinoscopy or mediastinotomy can help show whether the cancer has spread to the lymph nodes in the chest by removing a tissue sample. The patient receives a general anesthetic for this procedure. A bone scan uses a small amount of a radioactive substance to show whether cancer has spread to the bones. A mediastinoscopy or mediastinotomy can help show whether the cancer has spread to the lymph nodes in the chest by removing a tissue sample. The patient receives a general anesthetic for this procedure.
Question: What is (are) Lip and Oral Cavity Cancer ?

Answer: Key Points
                    - Lip and oral cavity cancer is a disease in which malignant (cancer) cells form in the lips or mouth.    - Tobacco and alcohol use can affect the risk of lip and oral cavity cancer.     - Signs of lip and oral cavity cancer include a sore or lump on the lips or in the mouth.     - Tests that examine the mouth and throat are used to detect (find), diagnose, and stage lip and oral cavity cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Lip and oral cavity cancer is a disease in which malignant (cancer) cells form in the lips or mouth.
                    The oral cavity includes the following:         - The front two thirds of the tongue.    - The gingiva (gums).    - The buccal mucosa (the lining of the inside of the cheeks).    - The floor (bottom) of the mouth under the tongue.    - The hard palate (the roof of the mouth).    - The retromolar trigone (the small area behind the wisdom teeth).          Most lip and oral cavity cancers start in squamous cells, the thin, flat cells that line the lips and oral cavity. These are called squamous cell carcinomas. Cancer cells may spread into deeper tissue as the cancer grows. Squamous cell carcinoma usually develops in areas of leukoplakia (white patches of cells that do not rub off).    Lip and oral cavity cancer is a type of head and neck cancer.
Question: What are the symptoms of Thalamic degeneration symmetrical infantile ?

Answer: What are the signs and symptoms of Thalamic degeneration symmetrical infantile? The Human Phenotype Ontology provides the following list of signs and symptoms for Thalamic degeneration symmetrical infantile. 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) Hypertonia 90% Incoordination 90% Respiratory insufficiency 90% Abnormality of neuronal migration 50% Abnormality of the voice 50% Arrhythmia 50% Seizures 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.
Question: What are the symptoms of FG syndrome 4 ?

Answer: What are the signs and symptoms of FG syndrome 4? The Human Phenotype Ontology provides the following list of signs and symptoms for FG syndrome 4. 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) Neonatal hypotonia 6/8 Sensorineural hearing impairment 4/6 Feeding difficulties in infancy 5/8 Seizures 5/8 Prominent forehead 3/8 Scoliosis 2/8 Hypertelorism - Intellectual disability - Wide nasal bridge - X-linked 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 are the symptoms of Pulmonary alveolar proteinosis acquired ?

Answer: What are the signs and symptoms of Pulmonary alveolar proteinosis acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Pulmonary alveolar proteinosis acquired. 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) Cyanosis 25% Alveolar proteinosis - Chest pain - Clubbing - Cough - Dyspnea - Hemoptysis - Hypoxemia - Insidious onset - Pneumonia - Polycythemia - Recurrent respiratory infections - Sporadic - 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.