umarjan11/Medical-qna huggingface dataset:
Question: How to diagnose Childhood Ependymoma ?

Answer: Tests that examine the brain and spinal cord are used to detect (find) childhood ependymoma. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken.    -   Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam.    -   MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. A substance called gadolinium is injected into a vein and travels through the bloodstream. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI).    -   Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap.
                    Childhood ependymoma is diagnosed and removed in surgery. If the diagnostic tests show there may be a brain tumor, a biopsy is done by removing part of the skull and using a needle to remove a sample of the brain tissue. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor will remove as much tumor as safely possible during the same surgery.     The following test may be done on the tissue that was removed:         -   Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between brain stem glioma and other brain tumors.         An MRI is often done after the tumor is removed to find out whether any tumor remains.
Question: What are the symptoms of Maffucci syndrome ?

Answer: What are the signs and symptoms of Maffucci syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Maffucci syndrome. 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 metaphyses 90% Abnormality of the skin 90% Cavernous hemangioma 90% Lower limb asymmetry 90% Micromelia 90% Multiple enchondromatosis 90% Osteolysis 90% Recurrent fractures 90% Thrombophlebitis 90% Visceral angiomatosis 90% Abnormal joint morphology 50% Bone pain 50% Exostoses 50% Limitation of joint mobility 50% Scoliosis 50% Short stature 50% Abnormality of coagulation 7.5% Anemia 7.5% Cerebral palsy 7.5% Cranial nerve paralysis 7.5% Feeding difficulties in infancy 7.5% Goiter 7.5% Lymphangioma 7.5% Neoplasm of the adrenal gland 7.5% Neoplasm of the breast 7.5% Neoplasm of the nervous system 7.5% Neoplasm of the parathyroid gland 7.5% Ovarian neoplasm 7.5% Platyspondyly 7.5% Precocious puberty 7.5% Respiratory insufficiency 7.5% Sarcoma 7.5% Skin ulcer 7.5% Chondrosarcoma - 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 Loeys-Dietz syndrome type 2 ?

Answer: What are the signs and symptoms of Loeys-Dietz syndrome type 2? The Human Phenotype Ontology provides the following list of signs and symptoms for Loeys-Dietz syndrome type 2. 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) Absent distal phalanges 5% Arnold-Chiari malformation 5% Atria septal defect 5% Bicuspid aortic valve 5% Bicuspid pulmonary valve 5% Cerebral aneurysm 5% Cleft palate 5% Craniosynostosis 5% Descending aortic aneurysm 5% Disproportionate tall stature 5% Hydrocephalus 5% Inguinal hernia 5% Intellectual disability 5% Mitral valve prolapse 5% Osteoporosis 5% Postaxial polydactyly 5% Syndactyly 5% Umbilical hernia 5% Abnormality of the sternum - Arachnodactyly - Ascending aortic aneurysm - Ascending aortic dissection - Autosomal dominant inheritance - Bifid uvula - Blue sclerae - Brachydactyly syndrome - Camptodactyly - Dermal translucency - Exotropia - Generalized arterial tortuosity - Hypertelorism - Joint contracture of the hand - Joint laxity - Malar flattening - Patent ductus arteriosus - Proptosis - Pulmonary artery aneurysm - Retrognathia - Scoliosis - Talipes equinovarus - 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 Hydrolethalus syndrome ?

Answer: What are the signs and symptoms of Hydrolethalus syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Hydrolethalus syndrome. 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) Polyhydramnios 92% Severe hydrocephalus 92% Microphthalmia 86% Postaxial hand polydactyly 77% Cleft in skull base 76% Stillbirth 73% Abnormality of the pinna 70% Low-set ears 70% Abnormal lung lobation 66% Laryngeal hypoplasia 57% Tracheal stenosis 57% Cleft palate 55% Talipes equinovarus 52% Complete atrioventricular canal defect 48% Duplication of phalanx of hallux 47% Bifid uterus 33% Hypospadias 33% Upper limb undergrowth 24% Hydronephrosis 16% Abnormal cortical gyration - Abnormality of the vagina - Absent septum pellucidum - Accessory spleen - Adrenal gland dysgenesis - Agenesis of corpus callosum - Agenesis of the diaphragm - Arrhinencephaly - Autosomal recessive inheritance - Bifid nose - Broad neck - Dandy-Walker malformation - Heterotopia - Intrauterine growth retardation - Median cleft lip - Omphalocele - Preaxial hand polydactyly - Proximal tibial hypoplasia - Ventricular septal defect - 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 Myotonic dystrophy type 1 ?

Answer: What are the signs and symptoms of Myotonic dystrophy type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Myotonic dystrophy 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) Arrhythmia 90% EMG abnormality 90% Hypertonia 90% Mask-like facies 90% Myotonia 90% Skeletal muscle atrophy 90% Abnormality of the endocrine system 50% Cataract 50% Cognitive impairment 50% Facial palsy 50% Muscular hypotonia 50% Respiratory insufficiency 50% Abnormal hair quantity 7.5% Abnormality of the hip bone 7.5% Abnormality of the upper urinary tract 7.5% Cryptorchidism 7.5% Hernia of the abdominal wall 7.5% Hydrocephalus 7.5% Non-midline cleft lip 7.5% Strabismus 7.5% Atrial flutter 4/11 Autosomal dominant inheritance - Cerebral atrophy - Cholelithiasis - Decreased fetal movement - Dysphagia - Excessive daytime sleepiness - Facial diplegia - Feeding difficulties in infancy - First degree atrioventricular block - Frontal balding - Hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Obsessive-compulsive trait - Polyhydramnios - Respiratory distress - Testicular atrophy - 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 Spinocerebellar ataxia 15 ?

Answer: What are the signs and symptoms of Spinocerebellar ataxia 15? Spinocerebellar ataxia 15 (SCA15) is characterized by slowly progressive gait and limb ataxia, often in combination with ataxic dysarthria, titubation, upper limb postural tremor (which occurs when a person tries to maintain a position against gravity, such as holding the arms outstretched), mild hyperreflexia (exaggerated reflexes), gaze-evoked nystagmus, and impaired vestibulo-ocular reflex gain (an inability to stabilize the eyes during small head tremors, which makes it difficult to read, etc.). Mild dysphagia and movement-induced oscillopsia (a bouncing and blurring of vision) have been observed in some patients. Symptoms typically present between the ages of 7 and 66 years. Gait ataxia and tremor are often the first noticeable symptoms. The ability to walk independently may be maintained for many years (or even decades) following onset of symptoms. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 15. 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) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Dysmetric saccades - Gait ataxia - Gaze-evoked horizontal nystagmus - Hyperreflexia - Impaired smooth pursuit - Juvenile onset - Limb ataxia - Postural tremor - Scanning speech - Slow progression - Truncal ataxia - 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 Antiphospholipid Antibody Syndrome ?

Answer: Your doctor will diagnose antiphospholipid antibody syndrome (APS) based on your medical history and the results from blood tests.
                
Specialists Involved
                
A hematologist often is involved in the care of people who have APS. This is a doctor who specializes in diagnosing and treating blood diseases and disorders.
                
You may have APS and another autoimmune disorder, such as lupus. If so, a doctor who specializes in that disorder also may provide treatment.
                
Many autoimmune disorders that occur with APS also affect the joints, bones, or muscles. Rheumatologists specialize in treating these types of disorders.
                
Medical History
                
Some people have APS antibodies but no signs or symptoms of the disorder. Having APS antibodies doesn't mean that you have APS. To be diagnosed with APS, you must have APS antibodies and a history of health problems related to the disorder.
                
APS can lead to many health problems, including stroke, heart attack, kidney damage, deep vein thrombosis, and pulmonary embolism.
                
APS also can cause pregnancy-related problems, such as multiple miscarriages, a miscarriage late in pregnancy, or a premature birth due to eclampsia. (Eclampsia, which follows preeclampsia, is a serious condition that causes seizures in pregnant women.)
                
Blood Tests
                
Your doctor can use blood tests to confirm a diagnosis of APS. These tests check your blood for any of the three APS antibodies: anticardiolipin, beta-2 glycoprotein I (2GPI), and lupus anticoagulant.
                
The term "anticoagulant" (AN-te-ko-AG-u-lant) refers to a substance that prevents blood clotting. It may seem odd that one of the APS antibodies is called lupus anticoagulant. The reason for this is because the antibody slows clotting in lab tests. However, in the human body, it increases the risk of blood clotting.
                
To test for APS antibodies, a small blood sample is taken. It's often drawn from a vein in your arm using a needle. The procedure usually is quick and easy, but it may cause some short-term discomfort and a slight bruise.
                
You may need a second blood test to confirm positive results. This is because a single positive test can result from a short-term infection. The second blood test often is done 12 weeks or more after the first one.
Question: How to diagnose Respiratory Failure ?

Answer: Your doctor will diagnose respiratory failure based on your medical history, a physical exam, and test results. Once respiratory failure is diagnosed, your doctor will look for its underlying cause.
                
Medical History
                
Your doctor will ask whether you might have or have recently had diseases or conditions that could lead to respiratory failure.
                
Examples include disorders that affect the muscles, nerves, bones, or tissues that support breathing. Lung diseases and conditions also can cause respiratory failure.
                
For more information, go to "What Causes Respiratory Failure?"
                
Physical Exam
                
During the physical exam, your doctor will look for signs of respiratory failure and its underlying cause.
                
Respiratory failure can cause shortness of breath, rapid breathing, and air hunger (feeling like you can't breathe in enough air). Using a stethoscope, your doctor can listen to your lungs for abnormal sounds, such as crackling.
                
Your doctor also may listen to your heart for signs of an arrhythmia (irregular heartbeat). An arrhythmia can occur if your heart doesn't get enough oxygen.
                
Your doctor might look for a bluish color on your skin, lips, and fingernails. A bluish color means your blood has a low oxygen level.
                
Respiratory failure also can cause extreme sleepiness and confusion, so your doctor might check how alert you are.
                
Diagnostic Tests
                
To check the oxygen and carbon dioxide levels in your blood, you may have: 
                
Pulse oximetry. For this test, a small sensor is attached to your finger or ear. The sensor uses light to estimate how much oxygen is in your blood.
                
Arterial blood gas test. This test measures the oxygen and carbon dioxide levels in your blood. A blood sample is taken from an artery, usually in your wrist. The sample is then sent to a laboratory, where its oxygen and carbon dioxide levels are measured.
                
A low level of oxygen or a high level of carbon dioxide in the blood (or both) is a possible sign of respiratory failure.
                
Your doctor may recommend other tests, such as a chest x ray, to help find the underlying cause of respiratory failure. A chest x ray is a painless test that takes pictures of the structures inside your chest, such as your heart, lungs, and blood vessels.
                
If your doctor thinks that you have an arrhythmia as a result of respiratory failure, he or she may recommend an EKG (electrocardiogram). An EKG is a simple, painless test that detects and records the heart's electrical activity.
Question: How to diagnose Carotid Artery Disease ?

Answer: Your doctor will diagnose carotid artery disease based on your medical history, a physical exam, and test results.
                
Medical History
                
Your doctor will find out whether you have any of the major risk factors for carotid artery disease. He or she also will ask whether you've had any signs or symptoms of a mini-stroke or stroke.
                
Physical Exam
                
To check your carotid arteries, your doctor will listen to them with a stethoscope. He or she will listen for a whooshing sound called a bruit. This sound may indicate changed or reduced blood flow due to plaque buildup. To find out more, your doctor may recommend tests.
                
Diagnostic Tests
                
The following tests are common for diagnosing carotid artery disease. If you have symptoms of a mini-stroke or stroke, your doctor may use other tests as well.
                
Carotid Ultrasound
                
Carotid ultrasound (also called sonography) is the most common test for diagnosing carotid artery disease. It's a painless, harmless test that uses sound waves to create pictures of the insides of your carotid arteries. This test can show whether plaque has narrowed your carotid arteries and how narrow they are.
                
A standard carotid ultrasound shows the structure of your carotid arteries. A Doppler carotid ultrasound shows how blood moves through your carotid arteries.
                
Carotid Angiography
                
Carotid angiography (an-jee-OG-ra-fee) is a special type of x ray. This test may be used if the ultrasound results are unclear or don't give your doctor enough information.
                
For this test, your doctor will inject a substance (called contrast dye) into a vein, most often in your leg. The dye travels to your carotid arteries and highlights them on x-ray pictures.
                
Magnetic Resonance Angiography
                
Magnetic resonance angiography (MRA) uses a large magnet and radio waves to take pictures of your carotid arteries. Your doctor can see these pictures on a computer screen.
                
For this test, your doctor may give you contrast dye to highlight your carotid arteries on the pictures.
                
Computed Tomography Angiography
                
Computed tomography (to-MOG-rah-fee) angiography, or CT angiography, takes x-ray pictures of the body from many angles. A computer combines the pictures into two- and three-dimensional images.
                
For this test, your doctor may give you contrast dye to highlight your carotid arteries on the pictures.