umarjan11/Medical-qna huggingface dataset:
Question: What are the treatments for Narcolepsy ?

Answer: Narcolepsy has no cure. However, medicines, lifestyle changes, and other therapies can relieve many of its symptoms. Treatment for narcolepsy is based on the type of symptoms you have and how severe they are.
                
Not all medicines and lifestyle changes work for everyone. It may take weeks to months for you and your doctor to find the best treatment.
                
Medicines
                
You may need one or more medicines to treat narcolepsy symptoms. These may include:
                
Stimulants to ease daytime sleepiness and raise your alertness.
                
A medicine that helps make up for the low levels of hypocretin in your brain. (Hypocretin is a chemical that helps promote wakefulness.) This medicine helps you stay awake during the day and sleep at night. It doesn't always completely relieve daytime sleepiness, so your doctor may tell you to take it with a stimulant.
                
Medicines that help you sleep at night.
                
Medicines used to treat depression. These medicines also help prevent cataplexy, hallucinations, and sleep paralysis.
                
Some prescription and over-the-counter medicines can interfere with your sleep. Ask your doctor about these medicines and how to avoid them, if possible. For example, your doctor may advise you to avoid antihistamines. These medicines suppress the action of histamine, a substance in the blood that promotes wakefulness.
                
If you take regular naps when you feel sleepy, you may need less medicine to stay awake.
                
Lifestyle Changes
                
Lifestyle changes also may help relieve some narcolepsy symptoms. You can take steps to make it easier to fall asleep at night and stay asleep.
                
Follow a regular sleep schedule. Go to bed and wake up at the same time every day.
                
Do something relaxing before bedtime, such as taking a warm bath.
                
Keep your bedroom or sleep area quiet, comfortable, dark, and free from distractions, such as a TV or computer.
                
Allow yourself about 20 minutes to fall asleep or fall back asleep after waking up. After that, get up and do something relaxing (like reading) until you get sleepy.
                
Certain activities, foods, and drinks before bedtime can keep you awake. Try to follow these guidelines:
                
Exercise regularly, but not within 3 hours of bedtime.
                
Avoid tobacco, alcohol, chocolate, and drinks that contain caffeine for several hours before bedtime.
                
Avoid large meals and beverages just before bedtime.
                
Avoid bright lights before bedtime.
                
For more tips on sleeping better, go to the National Heart, Lung, and Blood Institute's "Your Guide to Healthy Sleep."
                
Other Therapies
                
Light therapy may help you keep a regular sleep and wake schedule. For this type of therapy, you sit in front of a light box, which has special lights, for 10 to 30 minutes. This therapy can help you feel less sleepy in the morning.
Question: What are the genetic changes related to autosomal recessive congenital methemoglobinemia ?

Answer: Autosomal recessive congenital methemoglobinemia is caused by mutations in the CYB5R3 gene. This gene provides instruction for making an enzyme called cytochrome b5 reductase 3. This enzyme is involved in transferring negatively charged particles called electrons from one molecule to another. Two versions (isoforms) of this enzyme are produced from the CYB5R3 gene. The soluble isoform is present only in red blood cells, and the membrane-bound isoform is found in all other cell types.  Each hemoglobin molecule contains four iron atoms, which are needed to carry oxygen. In normal red blood cells, the iron in hemoglobin is ferrous (Fe2+), but it can spontaneously become ferric (Fe3+). When hemoglobin contains ferric iron, it is methemoglobin. The soluble isoform of cytochrome b5 reductase 3 changes ferric iron back to ferrous iron so hemoglobin can deliver oxygen to tissues. Normally, red blood cells contain less than 2 percent methemoglobin.  The membrane-bound isoform is widely used in the body. This isoform is necessary for many chemical reactions, including the breakdown and formation of fatty acids, the formation of cholesterol, and the breakdown of various molecules and drugs.  CYB5R3 gene mutations that cause autosomal recessive congenital methemoglobinemia type I typically reduce enzyme activity or stability. As a result, the enzyme cannot efficiently change ferric iron to ferrous iron, leading to a 10 to 50 percent increase in methemoglobin within red blood cells. This increase in methemoglobin and the corresponding decrease in normal hemoglobin reduces the amount of oxygen delivered to tissues. The altered enzyme activity affects only red blood cells because other cells can compensate for a decrease in enzyme activity, but red blood cells cannot.  Mutations that cause autosomal recessive congenital methemoglobinemia type II usually result in a complete loss of enzyme activity. Cells cannot compensate for a complete loss of this enzyme, which results in a 10 to 70 percent increase in methemoglobin within red blood cells. This increase in methemoglobin and the corresponding decrease in normal hemoglobin leads to cyanosis. The lack of enzyme activity in other cells leads to the neurological features associated with type II. Researchers suspect that the neurological problems are caused by impaired fatty acid and cholesterol formation, which reduces the production of a fatty substance called myelin. Myelin insulates nerve cells and promotes the rapid transmission of nerve impulses. This reduced ability to form myelin (hypomyelination) leads to a loss of nerve cells, particularly in the brain. The loss of these cells likely contributes to the encephalopathy and movement disorders characteristic of autosomal recessive congenital methemoglobinemia type II.
Question: What are the symptoms of Martsolf syndrome ?

Answer: What are the signs and symptoms of Martsolf syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Martsolf 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) Abnormal dermatoglyphics 90% Cataract 90% Cognitive impairment 90% Furrowed tongue 90% Hypoplasia of the zygomatic bone 90% Low posterior hairline 90% Malar flattening 90% Microcephaly 90% Prematurely aged appearance 90% Short philtrum 90% Short stature 90% Abnormality of calvarial morphology 50% Abnormality of the distal phalanx of finger 50% Abnormality of the palate 50% Abnormality of the teeth 50% Abnormality of the toenails 50% Cryptorchidism 50% Depressed nasal bridge 50% Hyperlordosis 50% Hypotelorism 50% Low-set, posteriorly rotated ears 50% Ulnar deviation of finger 50% Abnormality of the antihelix 7.5% Cerebral cortical atrophy 7.5% Scoliosis 7.5% Autosomal recessive inheritance - Brachycephaly - Broad fingertip - Broad nasal tip - Cardiomyopathy - Congestive heart failure - Epicanthus - Feeding difficulties in infancy - High palate - Hypogonadotrophic hypogonadism - Hypoplasia of the maxilla - Intellectual disability, progressive - Intellectual disability, severe - Lumbar hyperlordosis - Micropenis - Misalignment of teeth - Pectus carinatum - Pectus excavatum - Posteriorly rotated ears - Prominent antitragus - Prominent nipples - Recurrent respiratory infections - Short metacarpal - Short palm - Short phalanx of finger - Short toe - Slender ulna - Talipes equinovarus - Talipes valgus - Tracheomalacia - 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 Potocki-Shaffer syndrome ?

Answer: What are the signs and symptoms of Potocki-Shaffer syndrome? The signs and symptoms can vary depending on the area and amount deleted. Some individuals with the syndrome have few issues and lead a normal life while others are very severely affected. The following signs and symptoms may be present:  Enlarged parietal foramina  Multiple exostoses  Intellectual disability  Developmental delay  Failure to thrive  Autism  Behavioral problems  Deafness  Myopia (nearsightedness)  Nystagmus  Cataract  Strabismus  Aniridia  Distinct facial features (microcephaly, epicanthus, sparse eyebrows, prominent nose, small mandible)  Kidney problems MedlinePlus has information pages on some of these signs and symptoms or can direct to you other trusted websites that offer information. If you would like to read more, visit the link and enter the sign and symptom about which you would like to learn.  The Human Phenotype Ontology provides the following list of signs and symptoms for Potocki-Shaffer 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) Cognitive impairment 90% Decreased skull ossification 90% Exostoses 90% Craniofacial dysostosis 33% Cutaneous syndactyly between fingers 2 and 5 5% Multiple exostoses 10/10 Downturned corners of mouth 8/9 Micropenis 5/6 Single transverse palmar crease 5/6 Parietal foramina 9/11 Intellectual disability 7/10 Brachycephaly 6/9 Short philtrum 6/9 Sparse lateral eyebrow 6/9 Brachydactyly syndrome 5/8 Muscular hypotonia 5/9 Wormian bones 3/6 Epicanthus 4/9 Telecanthus 4/9 Seizures 2/11 Broad forehead - Contiguous gene syndrome - High forehead - Short nose - Turricephaly - Underdeveloped nasal alae - Wide nasal bridge - 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 Wilson-Turner syndrome ?

Answer: What are the signs and symptoms of Wilson-Turner syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Wilson-Turner 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) Obesity 90% Gynecomastia 50% Neurological speech impairment 50% Abnormality of calvarial morphology 7.5% Abnormality of the voice 7.5% Aplasia/Hypoplasia of the earlobes 7.5% Arthritis 7.5% Coarse facial features 7.5% Cognitive impairment 7.5% Cryptorchidism 7.5% Gait disturbance 7.5% Hypoplasia of penis 7.5% Incoordination 7.5% Large earlobe 7.5% Lymphedema 7.5% Macrotia 7.5% Mandibular prognathia 7.5% Narrow mouth 7.5% Pointed chin 7.5% Preauricular skin tag 7.5% Reduced number of teeth 7.5% Round ear 7.5% Scoliosis 7.5% Seizures 7.5% Short palm 7.5% Striae distensae 7.5% Synophrys 7.5% Tapered finger 7.5% Thick eyebrow 7.5% Toxemia of pregnancy 7.5% Umbilical hernia 7.5% Brachycephaly - Broad nasal tip - Decreased muscle mass - Decreased testicular size - Deeply set eye - Delayed puberty - Delayed speech and language development - Emotional lability - Hypogonadism - Intellectual disability - Kyphosis - Microcephaly - Micropenis - Misalignment of teeth - Muscular hypotonia - Prominent supraorbital ridges - Retrognathia - Short ear - Short foot - Short stature - Small hand - Truncal obesity - X-linked dominant inheritance - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) epidermolysis bullosa simplex ?

Answer: Epidermolysis bullosa simplex is one of a group of genetic conditions called epidermolysis bullosa that cause the skin to be very fragile and to blister easily. Blisters and areas of skin loss (erosions) occur in response to minor injury or friction, such as rubbing or scratching. Epidermolysis bullosa simplex is one of the major forms of epidermolysis bullosa. The signs and symptoms of this condition vary widely among affected individuals. Blistering primarily affects the hands and feet in mild cases, and the blisters usually heal without leaving scars. Severe cases of this condition involve widespread blistering that can lead to infections, dehydration, and other medical problems. Severe cases may be life-threatening in infancy.  Researchers have identified four major types of epidermolysis bullosa simplex. Although the types differ in severity, their features overlap significantly, and they are caused by mutations in the same genes. Most researchers now consider the major forms of this condition to be part of a single disorder with a range of signs and symptoms.  The mildest form of epidermolysis bullosa simplex, known as the localized type (formerly called the Weber-Cockayne type), is characterized by skin blistering that begins anytime between childhood and adulthood and is usually limited to the hands and feet. Later in life, skin on the palms of the hands and soles of the feet may thicken and harden (hyperkeratosis).  The Dowling-Meara type is the most severe form of epidermolysis bullosa simplex. Extensive, severe blistering can occur anywhere on the body, including the inside of the mouth, and blisters may appear in clusters. Blistering is present from birth and tends to improve with age. Affected individuals also experience abnormal nail growth and hyperkeratosis of the palms and soles.  Another form of epidermolysis bullosa simplex, known as the other generalized type (formerly called the Koebner type), is associated with widespread blisters that appear at birth or in early infancy. The blistering tends to be less severe than in the Dowling-Meara type.  Epidermolysis bullosa simplex with mottled pigmentation is characterized by patches of darker skin on the trunk, arms, and legs that fade in adulthood. This form of the disorder also involves skin blistering from early infancy, hyperkeratosis of the palms and soles, and abnormal nail growth.  In addition to the four major types described above, researchers have identified another skin condition related to epidermolysis bullosa simplex, which they call the Ogna type. It is caused by mutations in a gene that is not associated with the other types of epidermolysis bullosa simplex. It is unclear whether the Ogna type is a subtype of epidermolysis bullosa simplex or represents a separate form of epidermolysis bullosa.  Several other variants of epidermolysis bullosa simplex have been proposed, but they appear to be very rare.
Question: How to diagnose Hypopharyngeal Cancer ?

Answer: Tests that examine the throat and neck are used to help detect (find) and diagnose hypopharyngeal cancer. The following tests and procedures may be used:         -   Physical exam of the throat: An exam in which the doctor feels for swollen lymph nodes in the neck and looks down the throat with a small, long-handled mirror to check for abnormal areas.    -   CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography.    -   PET scan (positron emission tomography scan): A procedure to find malignant tumor cells in the body. A small amount of radioactive glucose (sugar) is injected into a vein. The PET scanner rotates around the body and makes a picture of where glucose is being used in the body. Malignant tumor cells show up brighter in the picture because they are more active and take up more glucose than normal cells do. A PET scan and CT scan may be done at the same time. This is called a PET-CT.    -   MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI).     -   Bone scan : A procedure to check if there are rapidly dividing cells, such as cancer cells, in the bone. A very small amount of radioactive material is injected into a vein and travels through the bloodstream. The radioactive material collects in the bones and is detected by a scanner.    -   Barium esophagogram: An x-ray of the esophagus. The patient drinks a liquid that contains barium (a silver-white metallic compound). The liquid coats the esophagus and x-rays are taken.    -   Endoscopy : A procedure used to look at areas in the throat that cannot be seen with a mirror during the physical exam of the throat. An endoscope (a thin, lighted tube) is inserted through the nose or mouth to check the throat for anything that seems unusual. Tissue samples may be taken for biopsy.     -   Esophagoscopy : A procedure to look inside the esophagus to check for abnormal areas. An esophagoscope (a thin, lighted tube) is inserted through the mouth or nose and down the throat into the esophagus. Tissue samples may be taken for biopsy.    -   Bronchoscopy : A procedure to look inside the trachea and large airways in the lung for abnormal areas. A bronchoscope (a thin, lighted tube) is inserted through the nose or mouth into the trachea and lungs. Tissue samples may be taken for biopsy.    -  Biopsy: The removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer.
Question: What are the symptoms of Pycnodysostosis ?

Answer: What are the signs and symptoms of Pycnodysostosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Pycnodysostosis. 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 epiphysis morphology 90% Abnormality of the clavicle 90% Abnormality of the fingernails 90% Abnormality of the palate 90% Brachydactyly syndrome 90% Delayed eruption of teeth 90% Frontal bossing 90% High forehead 90% Malar flattening 90% Osteolysis 90% Recurrent fractures 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Abnormality of dental morphology 50% Anonychia 50% Blue sclerae 50% Bone pain 50% Proptosis 50% Wormian bones 50% Abnormal pattern of respiration 7.5% Abnormality of pelvic girdle bone morphology 7.5% Anemia 7.5% Cognitive impairment 7.5% Hepatomegaly 7.5% Hydrocephalus 7.5% Hyperlordosis 7.5% Kyphosis 7.5% Narrow chest 7.5% Osteomyelitis 7.5% Splenomegaly 7.5% Abnormality of the thorax - Absent frontal sinuses - Autosomal recessive inheritance - Carious teeth - Delayed eruption of permanent teeth - Delayed eruption of primary teeth - Hypodontia - Increased bone mineral density - Narrow palate - Osteolytic defects of the distal phalanges of the hand - Persistence of primary teeth - Persistent open anterior fontanelle - Prominent nose - Prominent occiput - Ridged nail - Scoliosis - Spondylolisthesis - Spondylolysis - 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.