umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Verloove Vanhorick Brubakk syndrome ?

Answer: What are the signs and symptoms of Verloove Vanhorick Brubakk syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Verloove Vanhorick Brubakk 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 form of the vertebral bodies 90% Abnormality of pelvic girdle bone morphology 90% Abnormality of the femur 90% Abnormality of the metacarpal bones 90% Abnormality of the parathyroid gland 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the sacrum 90% Atresia of the external auditory canal 90% Cleft palate 90% Cryptorchidism 90% Limb undergrowth 90% Low-set, posteriorly rotated ears 90% Non-midline cleft lip 90% Tarsal synostosis 90% Abnormal localization of kidney 50% Finger syndactyly 50% Growth abnormality - Syndactyly - Truncus arteriosus - 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 Olmsted syndrome ?

Answer: What are the signs and symptoms of Olmsted syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Olmsted 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 fingernails 90% Hypohidrosis 90% Limitation of joint mobility 90% Palmoplantar keratoderma 90% Abnormality of bone mineral density 50% Carious teeth 50% Reduced number of teeth 50% Sensorineural hearing impairment 50% Skin ulcer 50% Alopecia 7.5% Melanoma 7.5% Neoplasm of the lung 7.5% Neoplasm of the skin 7.5% Osteolysis 7.5% Seizures 7.5% Alopecia universalis 5% Corneal opacity 5% Hyperhidrosis 5% Opacification of the corneal stroma 5% Sparse hair 5% Autosomal dominant inheritance - Flexion contracture - Nail dysplasia - Nail dystrophy - Parakeratosis - Pruritus - Subungual hyperkeratosis - 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) Coats plus syndrome ?

Answer: Coats plus syndrome is an inherited condition characterized by an eye disorder called Coats disease plus abnormalities of the brain, bones, gastrointestinal system, and other parts of the body.  Coats disease affects the retina, which is the tissue at the back of the eye that detects light and color. The disorder causes blood vessels in the retina to be abnormally enlarged (dilated) and twisted. The abnormal vessels leak fluid, which can eventually cause the layers of the retina to separate (retinal detachment). These eye abnormalities often result in vision loss.  People with Coats plus syndrome also have brain abnormalities including abnormal deposits of calcium (calcification), the development of fluid-filled pockets called cysts, and loss of a type of brain tissue known as white matter (leukodystrophy). These brain abnormalities worsen over time, causing slow growth, movement disorders, seizures, and a decline in intellectual function.  Other features of Coats plus syndrome include low bone density (osteopenia), which causes bones to be fragile and break easily, and a shortage of red blood cells (anemia), which can lead to unusually pale skin (pallor) and extreme tiredness (fatigue). Affected individuals can also have serious or life-threatening complications including abnormal bleeding in the gastrointestinal tract, high blood pressure in the vein that supplies blood to the liver (portal hypertension), and liver failure. Less common features of Coats plus syndrome can include sparse, prematurely gray hair; malformations of the fingernails and toenails; and abnormalities of skin coloring (pigmentation), such as light brown patches called caf-au-lait spots.  Coats plus syndrome and a disorder called leukoencephalopathy with calcifications and cysts (LCC; also called Labrune syndrome) have sometimes been grouped together under the umbrella term cerebroretinal microangiopathy with calcifications and cysts (CRMCC) because they feature very similar brain abnormalities. However, researchers recently found that Coats plus syndrome and LCC have different genetic causes, and they are now generally described as separate disorders instead of variants of a single condition.
Question: What are the genetic changes related to hidradenitis suppurativa ?

Answer: In most cases, the cause of hidradenitis suppurativa is unknown. The condition probably results from a combination of genetic and environmental factors. Originally, researchers believed that the disorder was caused by the blockage of specialized sweat glands called apocrine glands. However, recent studies have shown that the condition actually begins with a blockage of hair follicles in areas of the body that also contain a high concentration of apocrine glands (such as the armpits and groin). The blocked hair follicles trap bacteria, leading to inflammation and rupture. It remains unclear what initially causes the follicles to become blocked and why the nodules tend to recur.  Genetic factors clearly play a role in causing hidradenitis suppurativa. Some cases have been found to result from mutations in the NCSTN, PSEN1, or PSENEN gene. The proteins produced from these genes are all components of a complex called gamma- (-) secretase. This complex cuts apart (cleaves) many different proteins, which is an important step in several chemical signaling pathways. One of these pathways, known as Notch signaling, is essential for the normal maturation and division of hair follicle cells and other types of skin cells. Notch signaling is also involved in normal immune system function. Studies suggest that mutations in the NCSTN, PSEN1, or PSENEN gene impair Notch signaling in hair follicles. Although little is known about the mechanism, abnormal Notch signaling appears to promote the development of nodules and lead to inflammation in the skin. Researchers are working to determine whether additional genes, particularly those that provide instructions for making other -secretase components, are also associated with hidradenitis suppurativa.  Researchers have studied many other possible risk factors for hidradenitis suppurativa. Obesity and smoking both appear to increase the risk of the disorder, and obesity is also associated with increased severity of signs and symptoms in affected individuals. Studies suggest that neither abnormal immune system function nor hormonal factors play a significant role in causing the disease. Other factors that were mistakenly thought to be associated with this condition include poor hygiene, the use of underarm deodorants and antiperspirants, and shaving or the use of depilatory products to remove hair.
Question: How to diagnose Urinary Tract Infections in Children ?

Answer: Only a health care provider can determine whether a child has a UTI.
                
A urine sample will be collected and examined. The way urine is collected depends on the childs age:
                
- If the child is not yet toilet trained, the health care provider may place a plastic collection bag over the childs genital area. The bag will be sealed to the skin with an adhesive strip. If this method is used, the bag should be removed right after the child has urinated, and the urine sample should be processed immediately. Because bacteria from the skin can contaminate this sample, the methods listed below are more accurate.  - A health care provider may need to pass a small tube called a catheter into the urethra of an infant. Urine will drain directly from the bladder into a clean container.  - Sometimes the best way to collect a urine sample from an infant is by placing a needle directly into the bladder through the skin of the lower abdomen. Getting urine through a catheter or needle will ensure that the urine collected does not contain bacteria from the skin.  - An older child may be asked to urinate into a container. The sample needs to come as directly into the container as possible to avoid picking up bacteria from the skin or rectal area.
                
Some of the urine will be examined with a microscope. If an infection is present, bacteria and sometimes pus will be found in the urine. A urine culture should also be performed on some of the urine. The culture is performed by placing part of the urine sample in a tube or dish with a substance that encourages any bacteria present to grow. Once the bacteria have multiplied, which usually takes 1 to 3 days, they can be identified.
                
The reliability of the culture depends on how the urine is collected and how long the urine stands before the culture is started. If the urine sample is collected at home, it should be refrigerated as soon as it is collected. The container should be carried to the health care provider or lab in a plastic bag filled with ice.
                
The health care provider may also order a sensitivity test, which tests the bacteria for sensitivity to different antibiotics to see which medication is best for treating the infection.
Question: What is (are) Oropharyngeal Cancer ?

Answer: Key Points
                    - Oropharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the oropharynx.    - Smoking or being infected with human papillomavirus can increase the risk of oropharyngeal cancer.     - Signs and symptoms of oropharyngeal cancer include a lump in the neck and a sore throat.     - Tests that examine the mouth and throat are used to help detect (find), diagnose, and stage oropharyngeal cancer.    - Certain factors affect prognosis (chance of recovery) and treatment options.
                
                
                    Oropharyngeal cancer is a disease in which malignant (cancer) cells form in the tissues of the oropharynx.
                    The oropharynx is the middle part of the pharynx (throat), behind the mouth. The pharynx is a hollow tube about 5 inches long that starts behind the nose and ends where the trachea (windpipe) and esophagus (tube from the throat to the stomach) begin. Air and food pass through the pharynx on the way to the trachea or the esophagus.     The oropharynx includes the following:         -  Soft palate.    - Side and back walls of the throat.    -  Tonsils.    - Back one-third of the tongue.          Oropharyngeal cancer is a type of head and neck cancer. Sometimes more than one cancer can occur in the oropharynx and in other parts of the oral cavity, nose, pharynx, larynx (voice box), trachea, or esophagus at the same time.   Most oropharyngeal cancers are squamous cell carcinomas. Squamous cells are the thin, flat cells that line the inside of the oropharynx.   See the following PDQ summaries for more information about other types of head and neck cancers:         -  Hypopharyngeal Cancer Treatment     -  Lip and Oral Cavity Cancer Treatment     -  Oral Cavity and Oropharyngeal Cancer Prevention     -  Oral Cavity and Oropharyngeal Cancer Screening
Question: What are the symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema ?

Answer: What are the signs and symptoms of Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema? The Human Phenotype Ontology provides the following list of signs and symptoms for Leukoencephalopathy, arthritis, colitis, and hypogammaglobulinema. 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) Apnea - Arthritis - Autosomal recessive inheritance - Cerebral hypomyelination - Chronic gastritis - CNS hypomyelination - Corpus callosum atrophy - Diarrhea - Dysphagia - Eczema - Elevated erythrocyte sedimentation rate - Failure to thrive - Generalized tonic-clonic seizures - Horizontal nystagmus - IgG deficiency - Inflammation of the large intestine - Leukoencephalopathy - Muscular hypotonia - Neutropenia - Postnatal microcephaly - Recurrent infections - Severe global developmental delay - Spastic tetraparesis - Ventriculomegaly - 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 X-linked Charcot-Marie-Tooth disease type 3 ?

Answer: What are the signs and symptoms of X-linked Charcot-Marie-Tooth disease type 3? The Human Phenotype Ontology provides the following list of signs and symptoms for X-linked Charcot-Marie-Tooth disease type 3. 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% Hemiplegia/hemiparesis 90% Hypertonia 90% Muscle weakness 90% Skeletal muscle atrophy 90% Impaired pain sensation 50% Kyphosis 50% Scoliosis 50% Gait disturbance 7.5% Incoordination 7.5% Neurological speech impairment 7.5% Reduced consciousness/confusion 7.5% Tremor 7.5% Areflexia - Decreased nerve conduction velocity - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - EMG: axonal abnormality - Foot dorsiflexor weakness - Pes cavus - Steppage gait - Upper limb muscle weakness - 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: How to diagnose High Blood Pressure ?

Answer: For most patients, health care providers diagnose high blood pressure when blood pressure readings areconsistently 140/90 mmHg or above.
                
Confirming High Blood Pressure
                
A blood pressure test is easy and painless and can be done in a health care providers office or clinic. To prepare for the test:
                
Dont drink coffee or smoke cigarettes for 30 minutes prior to the test.
                
Go to the bathroom before the test.
                
Sit for 5 minutes before the test.
                
To track blood pressure readings over a period of time, the health care provider may ask you to come into the office on different days and at different times to take your blood pressure. The health care provider also may ask you to check readings at home or at other locations that have blood pressure equipment and to keep a written log of all your results.
                
Whenever you have an appointment with the health care provider, be sure to bring your log of blood pressure readings. Every time you visit the health care provider, he or she should tell you what your blood pressure numbers are; if he or she does not, you should ask for your readings.
                
Blood Pressure Severity and Type
                
Your health care provider usually takes 23 readings at several medical appointments to diagnose high blood pressure. Using the results of your blood pressure test, your health care provider will diagnose prehypertension or high blood pressure if:
                
Your systolic or diastolic readings are consistently higher than 120/80 mmHg.
                
Your childs blood pressure numbers are outside average numbers for children of the same age, gender, and height.
                
Once your health care provider determines the severity of your blood pressure, he or she can order additional tests to determine if your blood pressure is due to other conditions or medicines or if you have primary high blood pressure. Health care providers can use this information to develop your treatment plan.
                
Some people have white coat hypertension. This happens when blood pressure readings are only high when taken in a health care providers office compared with readings taken in any other location. Health care providers diagnose this type of high blood pressure by reviewing readings in the office and readings taken anywhere else. Researchers believe stress, which can occur during the medical appointment, causes white coat hypertension.
Question: What are the symptoms of Antiphospholipid Antibody Syndrome ?

Answer: The signs and symptoms of antiphospholipid antibody syndrome (APS) are related to abnormal blood clotting. The outcome of a blood clot depends on its size and location.
                
Blood clots can form in, or travel to, the arteries or veins in the brain, heart, kidneys, lungs, and limbs. Clots can reduce or block blood flow. This can damage the body's organs and may cause death.
                
Major Signs and Symptoms
                
Major signs and symptoms of blood clots include:
                
Chest pain and shortness of breath
                
Pain, redness, warmth, and swelling in the limbs
                
Ongoing headaches
                
Speech changes
                
Upper body discomfort in the arms, back, neck, and jaw
                
Nausea (feeling sick to your stomach)
                
Blood clots can lead to stroke, heart attack, kidney damage, deep vein thrombosis, and pulmonary embolism.
                
Pregnant women who have APS can have successful pregnancies. However, they're at higher risk for miscarriages, stillbirths, and other pregnancy-related problems, such as preeclampsia (pre-e-KLAMP-se-ah).
                
Preeclampsia is high blood pressure that occurs during pregnancy. This condition may progress to eclampsia. Eclampsia is a serious condition that causes seizures in pregnant women.
                
Some people who have APS may develop thrombocytopenia. This is a condition in which your blood has a lower than normal number of blood cell fragments called platelets.
                
Mild to serious bleeding causes the main signs and symptoms of thrombocytopenia. Bleeding can occur inside the body (internal bleeding) or underneath or from the skin (external bleeding).
                
Other Signs and Symptoms
                
Other signs and symptoms of APS include chronic (ongoing) headaches, memory loss, and heart valve problems. Some people who have APS also get a lacy-looking red rash on their wrists and knees.
Question: Who is at risk for Rh Incompatibility? ?

Answer: An Rh-negative woman who conceives a child with an Rh-positive man is at risk for Rhincompatibility.
                
Rh factor is inherited (passed from parents to children through the genes). If you're Rh-negative and the father of your baby is Rh-positive, the baby has a 50 percent or more chance of having Rh-positive blood.
                
Simple blood tests can show whether you and the father of your baby are Rh-positive or Rh-negative.
                
If you're Rh-negative, your risk of problems from Rh incompatibility is higher if you were exposed to Rh-positive blood before the pregnancy. This may have happened during:
                
An earlier pregnancy (usually during delivery). You also may have been exposed to Rh-positive blood if you had bleeding or abdominal trauma (for example, from a car accident) during the pregnancy.
                
An ectopic pregnancy, a miscarriage, or an induced abortion. (An ectopic pregnancy is a pregnancy that starts outside of the uterus, or womb.)
                
A mismatched blood transfusion or blood and marrow stem cell transplant.
                
An injection or puncture with a needle or other object containing Rh-positive blood.
                
Certain tests also can expose you to Rh-positive blood. Examples include amniocentesis (AM-ne-o-sen-TE-sis) and chorionic villus (ko-re-ON-ik VIL-us) sampling (CVS).
                
Amniocentesis is a test that you may have during pregnancy. Your doctor uses a needle to remove a small amount of fluid from the sac around your baby. The fluid is then tested for various reasons.
                
CVS also may be done during pregnancy. For this test, your doctor threads a thin tube through the vagina and cervix to the placenta. He or she removes a tissue sample from the placenta using gentle suction. The tissue sample is tested for various reasons.
                
Unless you were treated with the medicine that prevents Rh antibodies (Rh immune globulin) after each of these events, you're at risk for Rh incompatibility during current and future pregnancies.