umarjan11/Medical-qna huggingface dataset:
Question: How to diagnose Disseminated Intravascular Coagulation ?

Answer: Your doctor will diagnose disseminated intravascular coagulation (DIC) based on your medical history, a physical exam, and test results. Your doctor also will look for the cause of DIC.
                
Acute DIC requires emergency treatment. The condition can be life threatening if it's not treated right away. If you have signs or symptoms of severe bleeding or blood clots, call 911 right away.
                
Medical History and Physical Exam
                
Your doctor will ask whether you have or have had any diseases or conditions that can trigger DIC. For more information about these diseases and conditions, go to "What Causes Disseminated Intravascular Coagulation?"
                
Your doctor will ask about signs and symptoms of blood clots and bleeding. He or she also will do a physical exam to look for signs and symptoms of blood clots and internal and external bleeding. For example, your doctor may look for bleeding from your gums.
                
Diagnostic Tests
                
To diagnose DIC, your doctor may recommend blood tests to look at your blood cells and the clotting process. For these tests, a small amount of blood is drawn from a blood vessel, usually in your arm.
                
Complete Blood Count and Blood Smear
                
A complete blood count (CBC) measures the number of red blood cells, white blood cells, and platelets in your blood.
                
Platelets are blood cell fragments that help with blood clotting. Abnormal platelet numbers may be a sign of a bleeding disorder (not enough clotting) or a thrombotic disorder (too much clotting).
                
A blood smear is a test that may reveal whether your red blood cells are damaged.
                
Tests for Clotting Factors and Clotting Time
                
The following tests examine the proteins active in the blood clotting process and how long it takes them to form a blood clot.
                
PT and PTT tests. These tests measure how long it takes blood clots to form.
                
Serum fibrinogen. Fibrinogen is a protein that helps the blood clot. This test measures how much fibrinogen is in your blood.
                
Fibrin degradation. After blood clots dissolve, substances called fibrin degradation products are left behind in the blood. This test measures the amount of these substances in the blood.
Question: What are the symptoms of Hemophilia ?

Answer: The major signs and symptoms of hemophilia are excessive bleeding and easy bruising.
                
Excessive Bleeding
                
The extent of bleeding depends on how severe the hemophilia is.
                
Children who have mild hemophilia may not have signs unless they have excessive bleeding from a dental procedure, an accident, or surgery. Males who have severe hemophilia may bleed heavily after circumcision.
                
Bleeding can occur on the body's surface (external bleeding) or inside the body (internal bleeding).
                
Signs of external bleeding may include:
                
Bleeding in the mouth from a cut or bite or from cutting or losing a tooth
                
Nosebleeds for no obvious reason
                
Heavy bleeding from a minor cut
                
Bleeding from a cut that resumes after stopping for a short time
                
Signs of internal bleeding may include:
                
Blood in the urine (from bleeding in the kidneys or bladder)
                
Blood in the stool (from bleeding in the intestines or stomach)
                
Large bruises (from bleeding into the large muscles of the body)
                
Bleeding in the Joints
                
Bleeding in the knees, elbows, or other joints is another common form of internal bleeding in people who have hemophilia. This bleeding can occur without obvious injury.
                
At first, the bleeding causes tightness in the joint with no real pain or any visible signs of bleeding. The joint then becomes swollen, hot to touch, and painful to bend.
                
Swelling continues as bleeding continues. Eventually, movement in the joint is temporarily lost. Pain can be severe. Joint bleeding that isn't treated quickly can damage the joint.
                
Bleeding in the Brain
                
Internal bleeding in the brain is a very serious complication of hemophilia. It can happen after a simple bump on the head or a more serious injury. The signs and symptoms of bleeding in the brain include:
                
Long-lasting, painful headaches or neck pain or stiffness
                
Repeated vomiting
                
Sleepiness or changes in behavior
                
Sudden weakness or clumsiness of the arms or legs or problems walking
                
Double vision
                
Convulsions or seizures
Question: What is (are) Gaucher disease ?

Answer: Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. Researchers have described several types of Gaucher disease based on their characteristic features.  Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system) are usually not affected. The features of this condition range from mild to severe and may appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as bone pain, fractures, and arthritis.  Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because they are characterized by problems that affect the central nervous system. In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it tends to worsen more slowly than type 2.  The most severe type of Gaucher disease is called the perinatal lethal form. This condition causes severe or life-threatening complications starting before birth or in infancy. Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few days after birth.  Another form of Gaucher disease is known as the cardiovascular type because it primarily affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly).
Question: What is (are) Chediak-Higashi syndrome ?

Answer: Chediak-Higashi syndrome is a condition that affects many parts of the body, particularly the immune system. This disease damages immune system cells, leaving them less able to fight off invaders such as viruses and bacteria. As a result, most people with Chediak-Higashi syndrome have repeated and persistent infections starting in infancy or early childhood. These infections tend to be very serious or life-threatening.  Chediak-Higashi syndrome is also characterized by a condition called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the skin, hair, and eyes. Affected individuals typically have fair skin and light-colored hair, often with a metallic sheen. Oculocutaneous albinism also causes vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); and increased sensitivity to light (photophobia).  Many people with Chediak-Higashi syndrome have problems with blood clotting (coagulation) that lead to easy bruising and abnormal bleeding. In adulthood, Chediak-Higashi syndrome can also affect the nervous system, causing weakness, clumsiness, difficulty with walking, and seizures.  If the disease is not successfully treated, most children with Chediak-Higashi syndrome reach a stage of the disorder known as the accelerated phase. This severe phase of the disease is thought to be triggered by a viral infection. In the accelerated phase, white blood cells (which normally help fight infection) divide uncontrollably and invade many of the body's organs. The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure. These medical problems are usually life-threatening in childhood.  A small percentage of people with Chediak-Higashi syndrome have a milder form of the condition that appears later in life. People with the adult form of the disorder have less noticeable changes in pigmentation and are less likely to have recurrent, severe infections. They do, however, have a significant risk of progressive neurological problems such as tremors, difficulty with movement and balance (ataxia), reduced sensation and weakness in the arms and legs (peripheral neuropathy), and a decline in intellectual functioning.
Question: How to diagnose Primary Hyperparathyroidism ?

Answer: Once the diagnosis of primary hyperparathyroidism is established, other tests may be done to assess complications:
                
- Bone mineral density test. Dual energy x-ray absorptiometry, sometimes called a DXA or DEXA scan, uses low-dose x rays to measure bone density. During the test, a person lies on a padded table while a technician moves the scanner over the persons body. DXA scans are performed in a health care providers office, outpatient center, or hospital by a specially trained technician and may be interpreted by a metabolic bone disease expert or radiologista doctor who specializes in medical imagingor other specialists; anesthesia is not needed. The test can help assess bone loss and risk of fractures.  - Ultrasound. Ultrasound uses a device, called a transducer, that bounces safe, painless sound waves off organs to create an image of their structure. The procedure is performed in a health care providers office, outpatient center, or hospital by a specially trained technician, and the images are interpreted by a radiologist; anesthesia is not needed. The images can show the presence of kidney stones.  - Computerized tomography (CT) scan. CT scans use a combination of x rays and computer technology to create three-dimensional (3-D) images. A CT scan may include the injection of a special dye, called contrast medium. CT scans require the person to lie on a table that slides into a tunnel-shaped device where the x rays are taken. The procedure is performed in an outpatient center or hospital by an x-ray technician, and the images are interpreted by a radiologist; anesthesia is not needed. CT scans can show the presence of kidney stones.  - Urine collection. A 24-hour urine collection may be done to measure selected chemicals, such as calcium and creatinine, which is a waste product healthy kidneys remove. The person collects urine over a 24-hour period, and the urine is sent to a laboratory for analysis. The urine collection may provide information on kidney damage, the risk of kidney stone formation, and the risk of familial hypocalciuric hypercalcemia.  - 25-hydroxy-vitamin D blood test. This test is recommended because vitamin D deficiency is common in people with primary hyperparathyroidism.
Question: What is (are) Gallbladder Cancer ?

Answer: Key Points
                    - Gallbladder cancer is a disease in which malignant (cancer) cells form in the tissues of the gallbladder.    - Being female can increase the risk of developing gallbladder cancer.     - Signs and symptoms of gallbladder cancer include jaundice, fever, and pain.     - Gallbladder cancer is difficult to detect (find) and diagnose early.     - Tests that examine the gallbladder and nearby organs are used to detect (find), diagnose, and stage gallbladder cancer.     - Certain factors affect the prognosis (chance of recovery) and treatment options.
                
                
                    Gallbladder cancer is a disease in which malignant (cancer) cells form in the tissues of the gallbladder.
                    Gallbladder cancer is a rare disease in which malignant (cancer) cells are found in the tissues of the gallbladder. The gallbladder is a pear-shaped organ that lies just under the liver in the upper abdomen. The gallbladder stores bile, a fluid made by the liver to digest fat. When food is being broken down in the stomach and intestines, bile is released from the gallbladder through a tube called the common bile duct, which connects the gallbladder and liver to the first part of the small intestine.      The wall of the gallbladder has 3 main layers of tissue.          -  Mucosal (inner) layer.    - Muscularis (middle, muscle) layer.     -  Serosal (outer) layer.        Between these layers is supporting connective tissue. Primary gallbladder cancer starts in the inner layer and spreads through the outer layers as it grows.
                
                
                    Gallbladder cancer is difficult to detect (find) and diagnose early.
                    Gallbladder cancer is difficult to detect and diagnose for the following reasons:         - There are no signs or symptoms in the early stages of gallbladder cancer.    - The symptoms of gallbladder cancer, when present, are like the symptoms of many other illnesses.    - The gallbladder is hidden behind the liver.         Gallbladder cancer is sometimes found when the gallbladder is removed for other reasons. Patients with gallstones rarely develop gallbladder cancer.
Question: What are the symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence ?

Answer: What are the signs and symptoms of Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence? The Human Phenotype Ontology provides the following list of signs and symptoms for Ventricular extrasystoles with syncopal episodes - perodactyly - Robin sequence. 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 nose 90% Arrhythmia 90% Brachydactyly syndrome 90% Short distal phalanx of finger 90% Short stature 90% Short toe 90% Tapered finger 90% Aplasia/Hypoplasia of the distal phalanges of the toes 50% Cleft palate 50% Low anterior hairline 50% Reduced number of teeth 50% Abnormality of the metacarpal bones 7.5% Camptodactyly of finger 7.5% Cognitive impairment 7.5% Glossoptosis 7.5% Microcephaly 7.5% Autosomal dominant inheritance - Pierre-Robin sequence - Posteriorly placed tongue - Submucous cleft hard palate - Syncope - Tachycardia - Ventricular extrasystoles - 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 Farber's disease ?

Answer: What are the signs and symptoms of Farber's disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Farber's disease. 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) Arthralgia 90% Hepatomegaly 90% Joint swelling 90% Laryngomalacia 90% Limitation of joint mobility 90% Short stature 90% Abnormality of the skin 50% Abnormality of the voice 50% Kyphosis 50% Nystagmus 50% Recurrent respiratory infections 50% Reduced bone mineral density 50% Respiratory insufficiency 50% Skeletal muscle atrophy 50% Abnormality of the macula 7.5% Cognitive impairment 7.5% Opacification of the corneal stroma 7.5% Pulmonary fibrosis 7.5% Splenomegaly 7.5% Arthritis - Autosomal recessive inheritance - Cherry red spot of the macula - Failure to thrive - Hoarse cry - Intellectual disability - Irritability - Lipogranulomatosis - Motor delay - Periarticular subcutaneous nodules - Progressive - Variable expressivity - 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 Hypochondroplasia ?

Answer: What are the signs and symptoms of Hypochondroplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypochondroplasia. 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% Brachydactyly syndrome 90% Micromelia 90% Short stature 90% Short toe 90% Skeletal dysplasia 90% Abnormality of pelvic girdle bone morphology 50% Abnormality of the elbow 50% Abnormality of the femur 50% Genu varum 50% Joint hypermobility 50% Apnea 7.5% Cognitive impairment 7.5% Hyperlordosis 7.5% Intellectual disability 7.5% Macrocephaly 7.5% Osteoarthritis 7.5% Scoliosis 7.5% Spinal canal stenosis 7.5% Aplasia/hypoplasia of the extremities - Autosomal dominant inheritance - Childhood onset short-limb short stature - Flared metaphysis - Frontal bossing - Limited elbow extension - Lumbar hyperlordosis - Malar flattening - Short long bone - 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 WAGR syndrome ?

Answer: What are the signs and symptoms of WAGR syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for WAGR 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) Aniridia 90% Aplasia/Hypoplasia of the iris 90% Cognitive impairment 90% Cataract 50% Cryptorchidism 50% Displacement of the external urethral meatus 50% Hearing abnormality 50% Hypospadias 50% Intellectual disability 50% Microcephaly 50% Nephroblastoma (Wilms tumor) 50% Nystagmus 50% Ptosis 50% Short stature 50% Visual impairment 50% Nephropathy 40% Abnormality of the vagina 33% Streak ovary 33% Abnormality of the uterus 7.5% Glaucoma 7.5% Gonadoblastoma 7.5% Hernia of the abdominal wall 7.5% Obesity 7.5% Scoliosis 7.5% Renal insufficiency 10/46 Autosomal dominant inheritance - Contiguous gene syndrome - Somatic mutation - 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.