umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to Usher syndrome ?

Answer: Mutations in the ADGRV1, CDH23, CLRN1, MYO7A, PCDH15, USH1C, USH1G, and USH2A genes can cause Usher syndrome.  The genes related to Usher syndrome provide instructions for making proteins that play important roles in normal hearing, balance, and vision. They function in the development and maintenance of hair cells, which are sensory cells in the inner ear that help transmit sound and motion signals to the brain. In the retina, these genes are also involved in determining the structure and function of light-sensing cells called rods and cones. In some cases, the exact role of these genes in hearing and vision is unknown. Most of the mutations responsible for Usher syndrome lead to a loss of hair cells in the inner ear and a gradual loss of rods and cones in the retina. Degeneration of these sensory cells causes hearing loss, balance problems, and vision loss characteristic of this condition.  Usher syndrome type I can result from mutations in the CDH23, MYO7A, PCDH15, USH1C, or USH1G gene. At least two other unidentified genes also cause this form of Usher syndrome.  Usher syndrome type II is caused by mutations in at least four genes. Only two of these genes, ADGRV1 and USH2A, have been identified.  Mutations in at least two genes are responsible for Usher syndrome type III; however, CLRN1 is the only gene that has been identified.
Question: What are the symptoms of Pseudopelade of Brocq ?

Answer: What are the signs and symptoms of Pseudopelade of Brocq? The Human Phenotype Ontology provides the following list of signs and symptoms for Pseudopelade of Brocq. 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) Alopecia 90% Hypertrichosis 90% Lichenification 90% Skin ulcer 50% Abnormality of the nail 7.5% Aplasia/Hypoplasia of the eyebrow 7.5% Cheilitis 7.5% 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 GOMBO syndrome ?

Answer: What are the signs and symptoms of GOMBO syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for GOMBO 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 cardiovascular system morphology - Autosomal recessive inheritance - Brachydactyly syndrome - Clinodactyly - Delayed puberty - Intellectual disability, progressive - Intellectual disability, severe - Microcephaly - Microphthalmia - Radial deviation of finger - 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 Patterned dystrophy of retinal pigment epithelium ?

Answer: What are the signs and symptoms of Patterned dystrophy of retinal pigment epithelium? The Human Phenotype Ontology provides the following list of signs and symptoms for Patterned dystrophy of retinal pigment epithelium. 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) Metamorphopsia 5% Nyctalopia 5% Photophobia 5% Autosomal dominant inheritance - Macular dystrophy - Reticular retinal dystrophy - 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 Agenesis of the dorsal pancreas ?

Answer: What are the signs and symptoms of Agenesis of the dorsal pancreas? The Human Phenotype Ontology provides the following list of signs and symptoms for Agenesis of the dorsal pancreas. 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 pancreas 90% Intrauterine growth retardation 90% Maternal diabetes 90% Type I diabetes mellitus 90% Autosomal dominant inheritance - Diabetes mellitus - 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 - Cyclosporiasis (Cyclospora Infection) ?

Answer: Clinical Diagnosis
    
Health care providers should consider Cyclospora as a potential cause of prolonged diarrheal illness, particularly in patients with a history of recent travel to Cyclospora-endemic areas. Testing for Cyclospora is not routinely done in most U.S. laboratories, even when stool is tested for parasites. Therefore, if indicated, health care providers should specifically request testing for Cyclospora.
    
More on: Resources for Health Professionals: Diagnosis
    Laboratory Diagnosis
    
Cyclospora infection is diagnosed by examining stool specimens. Diagnosis can be difficult in part because even persons who are symptomatic might not shed enough oocysts in their stool to be readily detectable by laboratory examinations. Therefore, patients might need to submit several specimens collected on different days.
    
Special techniques, such as acid-fast staining, are often used to make Cyclospora oocysts more visible under the microscope. In addition, Cyclospora oocysts are autofluorescent, meaning that when stool containing the parasite is viewed under an ultraviolet (UV) fluorescence microscope the parasite appears blue or green against a black background. Molecular diagnostic methods, such as polymerase chain reaction (PCR) analysis, are used to look for the parasite's DNA in the stool.
    
More on: Key points for the laboratory diagnosis of cyclosporiasis
Question: Who is at risk for Sleep Deprivation and Deficiency? ?

Answer: Sleep deficiency, which includes sleep deprivation, affects people of all ages, races, and ethnicities. Certain groups of people may be more likely to be sleep deficient. Examples include people who:
                
Have limited time available for sleep, such as caregivers or people working long hours or more than one job
                
Have schedules that conflict with their internal body clocks, such as shift workers, first responders, teens who have early school schedules, or people who must travel for work
                
Make lifestyle choices that prevent them from getting enough sleep, such as taking medicine to stay awake, abusing alcohol or drugs, or not leaving enough time for sleep
                
Have undiagnosed or untreated medical problems, such as stress, anxiety, or sleep disorders
                
Have medical conditions or take medicines that interfere with sleep
                
Certain medical conditions have been linked to sleep disorders. These conditions include heart failure, heart disease, obesity, diabetes, high blood pressure, stroke or transient ischemic attack (mini-stroke), depression, and attention-deficit hyperactivity disorder (ADHD).
                
If you have or have had one of these conditions, ask your doctor whether you might benefit from a sleep study.
                
A sleep study allows your doctor to measure how much and how well you sleep. It also helps show whether you have sleep problems and how severe they are. For more information, go to the Health Topics Sleep Studies article.
                
If you have a child who is overweight, talk with the doctor about your child's sleep habits.
Question: What is (are) Spina Bifida ?

Answer: Spina bifida (SB) is a neural tube defect (a disorder involving incomplete development of the brain, spinal cord, and/or their protective coverings) caused by the failure of the fetus's spine to close properly during the first month of pregnancy. Infants born with SB sometimes have an open lesion on their spine where significant damage to the nerves and spinal cord has occurred. Although the spinal opening can be surgically repaired shortly after birth, the nerve damage is permanent, resulting in varying degrees of paralysis of the lower limbs. Even when there is no lesion present there may be improperly formed or missing vertebrae and accompanying nerve damage. In addition to physical and mobility difficulties, most individuals have some form of learning disability. The types of SB are: myelomeningocele, the severest form, in which the spinal cord and its protective covering (the meninges) protrude from an opening in the spine; meningocele in which the spinal cord develops normally but the meninges and spinal fluid) protrude from a spinal opening; closed neural tube defects, which consist of a group of defects in which development of the spinal cord is affected by malformations of the fat, bone, or meninges; and and occulta, the mildest form, in which one or more vertebrae are malformed and covered by a layer of skin. SB may also cause bowel and bladder complications, and many children with SB have hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain).
Question: What is (are) MECP2-related severe neonatal encephalopathy ?

Answer: MECP2-related severe neonatal encephalopathy is a neurological disorder that primarily affects males and causes brain dysfunction (encephalopathy). Affected males have a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth but then develop severe encephalopathy within the first week of life. These babies experience poor feeding, leading to a failure to gain weight and grow at the expected rate (failure to thrive). Individuals with MECP2-related severe neonatal encephalopathy have severe to profound intellectual disability. Affected males have breathing problems, with some having episodes in which breathing slows or stops for short periods (apnea). As the child ages, the apnea episodes tend to last longer, especially during sleep, and affected babies often require use of a machine to help regulate their breathing (mechanical ventilation). Most males with MECP2-related severe neonatal encephalopathy do not live past the age of 2 because of respiratory failure.  MECP2-related severe neonatal encephalopathy is the most severe condition in a spectrum of disorders with the same genetic cause. The mildest is PPM-X syndrome, followed by MECP2 duplication syndrome, then Rett syndrome (which exclusively affects females), and finally MECP2-related severe neonatal encephalopathy.
Question: What is (are) Pfeiffer syndrome ?

Answer: Pfeiffer syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet.  Many of the characteristic facial features of Pfeiffer syndrome result from premature fusion of the skull bones. Abnormal growth of these bones leads to bulging and wide-set eyes, a high forehead, an underdeveloped upper jaw, and a beaked nose. More than half of all children with Pfeiffer syndrome have hearing loss; dental problems are also common.  In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).  Pfeiffer syndrome is divided into three subtypes. Type 1, also known as classic Pfeiffer syndrome, has symptoms as described above. Most individuals with type 1 Pfeiffer syndrome have normal intelligence and a normal life span. Types 2 and 3 are more severe forms of Pfeiffer syndrome that often involve problems with the nervous system. The premature fusion of skull bones can limit brain growth, leading to delayed development and other neurological problems. Type 2 is distinguished from type 3 by the presence of a cloverleaf-shaped head, which is caused by more extensive fusion of bones in the skull.
Question: What are the treatments for Anemia of Inflammation and Chronic Disease ?

Answer: Anemia of inflammation and chronic disease often is not treated separately from the condition with which it occurs. In general, health care providers focus on treating the underlying illness. If this treatment is successful, the anemia usually resolves. For example, antibiotics prescribed for infection and anti-inflammatory medications prescribed for rheumatoid arthritis or IBD can cause AI/ACD to disappear. However, AI/ACD is increasingly being viewed as a medical condition that merits direct treatment.
                
For people with cancer or kidney disease who have low levels of EPO, a synthetic form of EPO may be prescribed. A health care provider usually injects EPO subcutaneouslyunder the skintwo or three times a week. A person may be taught how to inject the EPO at home. People on hemodialysis who cannot tolerate EPO shots may receive EPO intravenously during hemodialysis.
                
If iron deficiency has a role in causing AI/ACD, a person may need iron supplements to raise hematocrit to a target level. Iron supplements can be taken by pill, subcutaneously, or intravenously during hemodialysis.
                
People with kidney disease and AI/ACD may also be advised to take vitamin B12 and folic acid supplements. A person should talk with a health care provider before taking any supplements.
                
More information is provided in the NIDDK health topic, Anemia in Kidney Disease and Dialysis.
Question: Who is at risk for Am I at Risk for Type 2 Diabetes? Taking Steps to Lower Your Risk of Getting Diabetes? ?

Answer: You can do a lot to reduce your risk of getting type 2 diabetes. Being more physically active, reducing fat and calorie intake, and losing a little weight can help you lower your chances of developing type 2 diabetes. Taking the diabetes medicine metformin can also reduce risk, particularly in younger and heavier people with prediabetes and women who have had gestational diabetes. Lowering blood pressure and cholesterol levels also helps you stay healthy.
                
If you are overweight, then take these steps:
                
- Reach and maintain a reasonable body weight. Even a 10 or 15 pound weight loss makes a big difference.  - Make wise food choices most of the time.  - Be physically active every day.
                
If you are fairly inactive, then take this step:
                
- Be physically active every day.
                
If your blood pressure is too high, then take these steps:
                
- Reach and maintain a reasonable body weight.  - Make wise food choices most of the time.  - Reduce your sodium and alcohol intake.  - Be physically active every day.  - Talk with your doctor about whether you need medicine to control your blood pressure.
                
If your cholesterol or triglyceride levels are too high, then take these steps:
                
- Make wise food choices most of the time.  - Be physically active every day.  - Talk with your doctor about whether you need medicine to control your cholesterol levels.
Question: What are the symptoms of Familial hyperaldosteronism type III ?

Answer: What are the signs and symptoms of Familial hyperaldosteronism type III ? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial hyperaldosteronism type III . 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) Hypercalciuria 5% Metabolic acidosis 5% Polydipsia 5% Polyuria 5% Adrenal hyperplasia - Autosomal dominant inheritance - Decreased circulating renin level - Hyperaldosteronism - Hypertension - Hypokalemia - 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 Benign familial neonatal-infantile seizures ?

Answer: What are the signs and symptoms of Benign familial neonatal-infantile seizures? The Human Phenotype Ontology provides the following list of signs and symptoms for Benign familial neonatal-infantile seizures. 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) Autosomal dominant inheritance - Bilateral convulsive seizures - Cyanosis - Dialeptic seizures - Focal seizures - Focal seizures, afebril - Normal interictal EEG - 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 Glutamate formiminotransferase deficiency ?

Answer: What are the signs and symptoms of Glutamate formiminotransferase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Glutamate formiminotransferase deficiency. 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) Aminoaciduria - Autosomal recessive inheritance - Growth delay - Hypersegmentation of neutrophil nuclei - Intellectual disability - Megaloblastic anemia - Positive ferric chloride test - 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.