umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Thymic-Renal-Anal-Lung dysplasia ?

Answer: What are the signs and symptoms of Thymic-Renal-Anal-Lung dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Thymic-Renal-Anal-Lung dysplasia. 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 lung lobation 90% Abnormality of female internal genitalia 90% Abnormality of the fingernails 90% Abnormality of the nose 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the thymus 90% Hypoplasia of the ear cartilage 90% Hypoplastic toenails 90% Intestinal malrotation 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Malar flattening 90% Multicystic kidney dysplasia 90% Oligohydramnios 90% Urogenital fistula 90% Abnormality of metabolism/homeostasis - Abnormality of the endocrine system - Abnormality of the respiratory system - Anal atresia - Autosomal recessive inheritance - Renal agenesis - Ureteral agenesis - Ureteral dysgenesis - 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 Noonan syndrome 1 ?

Answer: What are the signs and symptoms of Noonan syndrome 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Noonan syndrome 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) Intellectual disability 25% Hypogonadism 7.5% Abnormal bleeding - Amegakaryocytic thrombocytopenia - Atria septal defect - Autosomal dominant inheritance - Brachydactyly syndrome - Clinodactyly - Coarctation of aorta - Cryptorchidism - Cubitus valgus - Cystic hygroma - Dental malocclusion - Epicanthus - Failure to thrive in infancy - Heterogeneous - High palate - Hypertelorism - Hypertrophic cardiomyopathy - Kyphoscoliosis - Low posterior hairline - Low-set, posteriorly rotated ears - Lymphedema - Male infertility - Myopia - Neurofibrosarcoma - Patent ductus arteriosus - Pectus excavatum of inferior sternum - Postnatal growth retardation - Ptosis - Pulmonic stenosis - Radial deviation of finger - Reduced factor XII activity - Reduced factor XIII activity - Sensorineural hearing impairment - Shield chest - Short neck - Short stature - Superior pectus carinatum - Synovitis - Triangular face - Ventricular septal defect - Webbed neck - 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 Nephrotic Syndrome in Adults ?

Answer: Urine samples are taken to diagnose people suspected of having nephrotic syndrome.
                
Nephrotic syndrome is diagnosed when large amounts of protein are found in the urine. The blood protein albumin makes up much of the protein that is lost, though many other important proteins are also lost in nephrotic syndrome.
                
The presence of albumin in the urine can be detected with a dipstick test performed on a urine sample. The urine sample is collected in a special container in a health care providers office or commercial facility and can be tested in the same location or sent to a lab for analysis. For the test, a nurse or technician places a strip of chemically treated paper, called a dipstick, into the urine. Patches on the dipstick change color when protein is present in urine.
                
A more precise measurement is usually needed to confirm the diagnosis. Either a single urine sample or a 24-hour collection of urine can be sent to a lab for analysis. With the single urine sample, the lab measures both albumin and creatinine, a waste product of normal muscle breakdown. The comparison of the measurements is called a urine albumin-to-creatinine ratio. A urine sample containing more than 30 milligrams of albumin for each gram of creatinine may signal a problem. With a 24-hour collection of urine, the lab measures only the amount of albumin present. The single urine sample is easier to collect than the 24-hour sample and is usually sufficient to confirm diagnosis, though the 24-hour collection may be used in some cases.
                
Once nephrotic syndrome is diagnosed, blood tests are usually needed to check for systemic diseases that may be causing the nephrotic syndrome and to find out how well the kidneys are working overall. A blood test involves drawing blood at a health care providers office or commercial facility and sending the sample to a lab for analysis.
                
Though blood tests can point toward systemic diseases, a kidney biopsy is usually needed to diagnose the specific underlying disease causing the nephrotic syndrome and to determine the best treatment. A kidney biopsy is a procedure that involves taking a piece of kidney tissue for examination with a microscope. Kidney biopsies are performed by a health care provider in a hospital with light sedation and local anesthetic. A biopsy is often not needed for a person with diabetes because the persons medical history and lab tests may be enough to diagnose the problem as being a result of diabetes.
Question: What are the symptoms of Schindler disease type 1 ?

Answer: What are the signs and symptoms of Schindler disease type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Schindler disease 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) Abnormal pyramidal signs 90% Autism 90% Cataract 90% Cognitive impairment 90% Developmental regression 90% Hearing impairment 90% Hypertonia 90% Muscle weakness 90% Seizures 90% Strabismus 90% Visual impairment 90% Hemiplegia/hemiparesis 50% Hepatomegaly 50% Hyperkeratosis 50% Hypertrophic cardiomyopathy 50% Involuntary movements 50% Muscular hypotonia 50% Nystagmus 50% Optic atrophy 50% Telangiectasia of the skin 50% Vertigo 50% Aplasia/Hypoplasia of the cerebellum 7.5% Lymphedema 7.5% Paresthesia 7.5% Autosomal recessive inheritance - Cortical visual impairment - Generalized amyotrophy - Hyperreflexia - Increased urinary O-linked sialopeptides - Infantile onset - Intellectual disability, severe - Myoclonus - Osteopenia - Spasticity - 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 the outlook for Electrocardiogram ?

Answer: An electrocardiogram (EKG) is painless and harmless. A nurse or technician will attach soft, sticky patches called electrodes to the skin of your chest, arms, and legs. The patches are about the size of a quarter.
                
Often, 12 patches are attached to your body. This helps detect your heart's electrical activity from many areas at the same time. The nurse may have to shave areas of your skin to help the patches stick.
                
After the patches are placed on your skin, you'll lie still on a table while the patches detect your heart's electrical signals. A machine will record these signals on graph paper or display them on a screen.
                
The entire test will take about 10 minutes.
                
EKG
                

                
Special Types of Electrocardiogram
                
The standard EKG described above, called a resting 12-lead EKG, only records seconds of heart activity at a time. It will show a heart problem only if the problem occurs during the test.
                
Many heart problems are present all the time, and a resting 12-lead EKG will detect them. But some heart problems, like those related to an irregular heartbeat, can come and go. They may occur only for a few minutes a day or only while you exercise.
                
Doctors use special EKGs, such as stress tests and Holter and event monitors, to help diagnose these kinds of problems.
                
Stress Test
                
Some heart problems are easier to diagnose when your heart is working hard and beating fast. During stress testing, you exercise to make your heart work hard and beat fast while an EKG is done. If you can't exercise, you'll be given medicine to make your heart work hard and beat fast.
                
For more information, go to the Health Topics Stress Testing article.
                
Holter and Event Monitors
                
Holter and event monitors are small, portable devices. They record your heart's electrical activity while you do your normal daily activities. A Holter monitor records your heart's electrical activity for a full 24- or 48-hour period.
                
An event monitor records your heart's electrical activity only at certain times while you're wearing it. For many event monitors, you push a button to start the monitor when you feel symptoms. Other event monitors start automatically when they sense abnormal heart rhythms.
                
For more information, go to the Health Topics Holter and Event Monitors article.
Question: What are the treatments for cone-rod dystrophy ?

Answer: These resources address the diagnosis or management of cone-rod dystrophy:  - Cleveland Clinic: Eye Examinations: What to Expect  - Genetic Testing Registry: CONE-ROD DYSTROPHY, AIPL1-RELATED  - Genetic Testing Registry: Cone-rod dystrophy  - Genetic Testing Registry: Cone-rod dystrophy 1  - Genetic Testing Registry: Cone-rod dystrophy 10  - Genetic Testing Registry: Cone-rod dystrophy 11  - Genetic Testing Registry: Cone-rod dystrophy 12  - Genetic Testing Registry: Cone-rod dystrophy 13  - Genetic Testing Registry: Cone-rod dystrophy 15  - Genetic Testing Registry: Cone-rod dystrophy 16  - Genetic Testing Registry: Cone-rod dystrophy 17  - Genetic Testing Registry: Cone-rod dystrophy 18  - Genetic Testing Registry: Cone-rod dystrophy 19  - Genetic Testing Registry: Cone-rod dystrophy 2  - Genetic Testing Registry: Cone-rod dystrophy 20  - Genetic Testing Registry: Cone-rod dystrophy 21  - Genetic Testing Registry: Cone-rod dystrophy 3  - Genetic Testing Registry: Cone-rod dystrophy 5  - Genetic Testing Registry: Cone-rod dystrophy 6  - Genetic Testing Registry: Cone-rod dystrophy 7  - Genetic Testing Registry: Cone-rod dystrophy 8  - Genetic Testing Registry: Cone-rod dystrophy 9  - Genetic Testing Registry: Cone-rod dystrophy X-linked 3  - Genetic Testing Registry: Cone-rod dystrophy, X-linked 1  - MedlinePlus Encyclopedia: Color Vision Test  - MedlinePlus Encyclopedia: Visual Acuity Test  - MedlinePlus Encyclopedia: Visual Field Test   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What are the treatments for Carnitine-acylcarnitine translocase deficiency ?

Answer: How might carnitine-acylcarnitine translocase deficiency be treated? Although there is no standard treatment plan for carnitine-acylcarnitine translocase deficiency, there are treatments that have been found to be helpful in the management of this condition. Certain treatments may be helpful for some children but not others. When necessary, treatment are usually needed throughout life. Children with carnitine-acylcarnitine translocase deficiency should be followed by a metabolic doctor  and a dietician in addition to their primary doctor. Aggressive treatment of hypoglycemia, hyperammonemia and prevention of lipolysis (the breakdown of fat stored in fat cells) in the newborn may be lifesaving. Infants and young children with carnitine-acylcarnitine translocase deficiency need to eat frequently to prevent a metabolic crisis. In general, it is often suggested that infants be fed every four to six hours, although some babies need to eat even more frequently than this. It is important that infants be fed during the night. They may need to be woken up to eat if they do not wake up on their own. Sometimes a low-fat, high carbohydrate diet is advised. Carbohydrates give the body many types of sugar that can be used as energy. In fact, for children needing this treatment, most food in the diet should be carbohydrates (bread, pasta, fruit, vegetables, etc.) and protein (lean meat and low-fat dairy food). Some children may be helped by taking L-carnitine. This is a safe and natural substance that helps body cells make energy. It also helps the body get rid of harmful wastes. However, supplementation with carnitine remains controversial, as its efficacy remains unknown. Medium Chain Triglyceride oil (MCT oil) is sometimes used as part of the food plan for people with carnitine-acylcarnitine translocase deficiency. This special oil has medium chain fatty acids that people with carnitine-acylcarnitine translocase deficiency can use in small amounts for energy. You may be instructed to call your child's doctor at the start of any illness. Children with carnitine-acylcarnitine translocase deficiency need to eat extra starchy food and drink more fluids during any illness (even if they may not feel hungry) or they could develop a metabolic crisis.
Question: What are the symptoms of Barber Say syndrome ?

Answer: What are the signs and symptoms of Barber Say syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barber Say 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 eyelashes 90% Anteverted nares 90% Aplasia/Hypoplasia of the eyebrow 90% Cutis laxa 90% Delayed eruption of teeth 90% Hearing abnormality 90% Hypertelorism 90% Hypertrichosis 90% Telecanthus 90% Wide mouth 90% Aplasia/Hypoplasia of the nipples 50% Breast aplasia 50% Hyperextensible skin 50% Atresia of the external auditory canal 7.5% External ear malformation 7.5% Shawl scrotum 7.5% High palate 5% Intellectual disability 5% Abnormality of female external genitalia - Abnormality of male external genitalia - Abnormality of the pinna - Autosomal dominant inheritance - Bulbous nose - Dermal atrophy - Dry skin - Ectropion - Hearing impairment - Hypoplastic nipples - Low-set ears - Mandibular prognathia - Redundant skin - Sparse eyebrow - Thin vermilion border - Underdeveloped nasal alae - 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 Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ?

Answer: What are the signs and symptoms of Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia. 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% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the eyebrow 90% Behavioral abnormality 90% Delayed skeletal maturation 90% Fine hair 90% Hypohidrosis 90% Hypothyroidism 90% Recurrent respiratory infections 90% Short stature 90% Lacrimation abnormality 50% Melanocytic nevus 50% Abnormal respiratory motile cilium morphology - Abnormality of skin pigmentation - Autosomal recessive inheritance - Ciliary dyskinesia - Hypohidrotic ectodermal dysplasia - Nail dysplasia - Primary hypothyroidism - Recurrent infections - Sparse eyebrow - Sparse scalp hair - Urticaria - 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 Char syndrome ?

Answer: What are the signs and symptoms of Char syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Char 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) Depressed nasal bridge 90% Depressed nasal ridge 90% Hypertelorism 90% Malar flattening 90% Patent ductus arteriosus 90% Ptosis 90% Short philtrum 90% Thick lower lip vermilion 90% Clinodactyly of the 5th finger 50% Cognitive impairment 7.5% Foot polydactyly 7.5% Hand polydactyly 7.5% Hearing impairment 7.5% Myopia 7.5% Prominent occiput 7.5% Reduced consciousness/confusion 7.5% Reduced number of teeth 7.5% Strabismus 7.5% Supernumerary nipple 7.5% Symphalangism affecting the phalanges of the hand 7.5% Toe syndactyly 7.5% Ventricular septal defect 7.5% Autosomal dominant inheritance - Broad forehead - Broad nasal tip - Distal/middle symphalangism of 5th finger - Highly arched eyebrow - Intellectual disability, mild - Low-set ears - Protruding ear - Thick eyebrow - Triangular mouth - 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.