umarjan11/Medical-qna huggingface dataset:
Question: What is (are) preeclampsia ?

Answer: Preeclampsia is a complication of pregnancy in which affected women develop high blood pressure (hypertension) and can also have abnormally high levels of protein in their urine. This condition usually occurs in the last few months of pregnancy and often requires the early delivery of the infant.  Many women with mild preeclampsia do not feel ill, and the problem is first detected through blood pressure and urine testing in their doctor's office. Other early features of the disorder are swelling (edema) of the face or hands and a weight gain of more than 2 pounds within a few days. More severely affected women may experience headaches, dizziness, irritability, shortness of breath, a decrease in urination, upper abdominal pain, nausea, or vomiting. Vision changes may develop, including flashing lights or spots, increased sensitivity to light (photophobia), blurry vision, or temporary blindness.  In most cases, preeclampsia is mild and goes away within a few weeks after the baby is born. In severe cases, however, preeclampsia can impact the mother's organs such as the heart, liver, and kidneys and can lead to life-threatening complications. Extreme hypertension in the mother can cause bleeding in the brain (hemorrhagic stroke). The effects of high blood pressure on the brain (hypertensive encephalopathy) may also result in seizures. If seizures occur, the condition is considered to have progressed to eclampsia, which can result in coma. Without treatment to help prevent seizures, about 1 in 200 women with preeclampsia develop eclampsia.  Between 10 and 20 percent of women with severe preeclampsia develop another potentially life-threatening complication called HELLP syndrome. HELLP stands for hemolysis (premature red blood cell breakdown), elevated liver enzyme levels, and low platelets (cell fragments involved in blood clotting), which are the key features of this condition.  Severe preeclampsia can also affect the fetus, with impairment of blood and oxygen flow leading to growth problems or stillbirth. Infants delivered early due to preeclampsia may have complications associated with prematurity, such as breathing problems caused by underdeveloped lungs.  Women who have had preeclampsia have approximately twice the lifetime risk of heart disease and stroke than do women in the general population. Researchers suggest this may be due to common factors that increase the risk of preeclampsia, heart disease, and stroke.
Question: What is (are) Netherton syndrome ?

Answer: Netherton syndrome is a disorder that affects the skin, hair, and immune system. Newborns with Netherton syndrome have skin that is red and scaly (ichthyosiform erythroderma), and the skin may leak fluid. Some affected infants are born with a tight, clear sheath covering their skin called a collodion membrane. This membrane is usually shed during the first few weeks of life. Because newborns with this disorder are missing the protection provided by normal skin, they are at risk of becoming dehydrated and developing infections in the skin or throughout the body (sepsis), which can be life-threatening. Affected babies may also fail to grow and gain weight at the expected rate (failure to thrive). The health of older children and adults with Netherton syndrome usually improves, although they often remain underweight and of short stature.  After infancy, the severity of the skin abnormalities varies among people with Netherton syndrome and can fluctuate over time. The skin may continue to be red and scaly, especially during the first few years of life. Some affected individuals have intermittent redness or experience outbreaks of a distinctive skin abnormality called ichthyosis linearis circumflexa, involving patches of multiple ring-like lesions. The triggers for the outbreaks are not known, but researchers suggest that stress or infections may be involved.  Itchiness is a common problem for affected individuals, and scratching can lead to frequent infections. Dead skin cells are shed at an abnormal rate and often accumulate in the ear canals, which can affect hearing if not removed regularly. The skin is abnormally absorbent of substances such as lotions and ointments, which can result in excessive blood levels of some topical medications. Because the ability of the skin to protect against heat and cold is impaired, affected individuals may have difficulty regulating their body temperature.  People with Netherton syndrome have hair that is fragile and breaks easily. Some strands of hair vary in diameter, with thicker and thinner spots. This feature is known as bamboo hair, trichorrhexis nodosa, or trichorrhexis invaginata. In addition to the hair on the scalp, the eyelashes and eyebrows may be affected. The hair abnormality in Netherton syndrome may not be noticed in infancy because babies often have sparse hair.  Most people with Netherton syndrome have immune system-related problems such as food allergies, hay fever, asthma, or an inflammatory skin disorder called eczema.
Question: How to diagnose Rheumatoid Arthritis ?

Answer: There is no single, definitive test for rheumatoid arthritis. Common tests for rheumatoid arthritis include - The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis. However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease.  The rheumatoid factor test. Rheumatoid factor is an antibody that is present eventually in the blood of most people with rheumatoid arthritis. However, not all people with rheumatoid arthritis test positive for rheumatoid factor, especially early in the disease. Also, some people who do test positive never develop the disease. - The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis.  The citrulline antibody test. This blood test detects antibodies to cyclic citrullinated peptide (anti-CCP). This test is positive in most people with rheumatoid arthritis and can even be positive years before rheumatoid arthritis symptoms develop. When used with the rheumatoid factor test, the citrulline antibody test results are very useful in confirming a rheumatoid arthritis diagnosis. Other common tests for rheumatoid arthritis include - the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body   - a test for white blood cell count   - a blood test for anemia.  the erythrocyte sedimentation rate, which indicates the presence of inflammation in the body a test for white blood cell count a blood test for anemia. X-rays are often used to determine the degree of joint destruction. They are not useful in the early stages of rheumatoid arthritis before bone damage is evident, but they can be used later to monitor the progression of the disease. Learn more about how rheumatoid arthritis is diagnosed.
Question: How to diagnose Mycosis Fungoides and the Szary Syndrome ?

Answer: Tests that examine the skin and blood are used to detect (find) and diagnose mycosis fungoides and the Szary syndrome. The following tests and procedures may be used:         -   Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps, the number and type of skin lesions, or anything else that seems unusual. Pictures of the skin and a history of the patients health habits and past illnesses and treatments will also be taken.    -   Complete blood count with differential : A procedure in which a sample of blood is drawn and checked for the following:                - The number of red blood cells and platelets.      - The number and type of white blood cells.      - The amount of hemoglobin (the protein that carries oxygen) in the red blood cells.       - The portion of the blood sample made up of red blood cells.              -   Peripheral blood smear : A procedure in which a sample of blood is viewed under a microscope to count different circulating blood cells (red blood cells, white blood cells, platelets, etc.) and see whether the cells look normal.     -  Skin biopsy : The removal of cells or tissues so they can be viewed under a microscope to check for signs of cancer. The doctor may remove a growth from the skin, which will be examined by a pathologist. More than one skin biopsy may be needed to diagnose mycosis fungoides.    -   Immunophenotyping : A process used to identify cells, based on the types of antigens or markers on the surface of the cell. This process may include special staining of the blood cells. It is used to diagnose specific types of leukemia and lymphoma by comparing the cancer cells to normal cells of the immune system.    -  T-cell receptor (TCR) gene rearrangement test: A laboratory test in which cells in a sample of tissue are checked to see if there is a certain change in the genes. This gene change can lead to too many of one kind of T-cells (white blood cells that fight infection) to be made.    -   Flow cytometry : A laboratory test that measures the number of cells in a sample of blood, the percentage of live cells in a sample, and certain characteristics of cells, such as size, shape, and the presence of tumor markers on the cell surface. The cells are stained with a light-sensitive dye, placed in a fluid, and passed in a stream before a laser or other type of light. The measurements are based on how the light-sensitive dye reacts to the light.
Question: What are the symptoms of Michelin tire baby syndrome ?

Answer: What are the signs and symptoms of Michelin tire baby syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Michelin tire baby 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) Cutis laxa 90% Edema 90% Sacrococcygeal pilonidal abnormality 90% Thickened skin 90% Cleft palate 50% Irregular hyperpigmentation 50% Abnormality of the musculature 7.5% Abnormality of the scrotum 7.5% Aplasia/Hypoplasia affecting the eye 7.5% Cognitive impairment 7.5% Congestive heart failure 7.5% Cryptorchidism 7.5% Displacement of the external urethral meatus 7.5% Epicanthus 7.5% External ear malformation 7.5% Hypertrichosis 7.5% Long philtrum 7.5% Lower limb asymmetry 7.5% Low-set, posteriorly rotated ears 7.5% Microcephaly 7.5% Microcornea 7.5% Neoplasm of the nervous system 7.5% Retinopathy 7.5% Short stature 7.5% Umbilical hernia 7.5% Abnormality of cardiovascular system morphology - Abnormality of the skin - Autosomal dominant inheritance - Localized neuroblastoma - 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 Coats disease ?

Answer: What are the signs and symptoms of Coats disease? The signs and symptoms of Coats disease typically begin at an early age (between ages 6 and 8). Some people may only have a few or no symptoms, while others are very severely affected. The condition is almost always progressive (symptoms get worse over time), although alternating periods of sudden worsening with periods of no apparent progression are common. Early signs and symptoms may include loss of vision, crossed eyes (strabismus), and/or the development of a white mass in the pupil behind the lens of the eye (leukocoria). As the disease progresses, affected people may develop glaucoma; cataracts; reddish discoloration in the iris (rubeosis iridis or neovascular glaucoma); shrinking of the affected eyeball (phthisis bulbi); and/or swelling and irritation of the middle layer of the eye (uveitis). The majority of affected people eventually experience profound vision loss and retinal detachment. The Human Phenotype Ontology provides the following list of signs and symptoms for Coats 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) Abnormality of the retinal vasculature 90% Strabismus 90% Abnormality of the macula 50% Glaucoma 50% Retinal detachment 50% Abnormality of the anterior chamber 7.5% Aplasia/Hypoplasia of the iris 7.5% Cataract 7.5% Visual impairment 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 Polycythemia Vera ?

Answer: Polycythemia vera (PV) develops slowly. The disease may not cause signs or symptoms for years.
                
When signs and symptoms are present, they're the result of the thick blood that occurs with PV. This thickness slows the flow of oxygen-rich blood to all parts of your body. Without enough oxygen, many parts of your body won't work normally.
                
The signs and symptoms of PV include:
                
Headaches, dizziness, and weakness
                
Shortness of breath and problems breathing while lying down
                
Feelings of pressure or fullness on the left side of the abdomen due to an enlarged spleen (an organ in the abdomen)
                
Double or blurred vision and blind spots
                
Itching all over (especially after a warm bath), reddened face, and a burning feeling on your skin (especially your hands and feet)
                
Bleeding from your gums and heavy bleeding from small cuts
                
Unexplained weight loss
                
Fatigue (tiredness)
                
Excessive sweating
                
Very painful swelling in a single joint, usually the big toe (called gouty arthritis)
                
In rare cases, people who have PV may have pain in their bones.
                
Polycythemia Vera Complications
                
If you have PV, the thickness of your blood and the slowed blood flow can cause serious health problems.
                
Blood clots are the most serious complication of PV. Blood clots can cause a heart attack or stroke. They also can cause your liver and spleen to enlarge. Blood clots in the liver and spleen can cause sudden, intense pain.
                
Slowed blood flow also prevents enough oxygen-rich blood from reaching your organs. This can lead to angina (chest pain or discomfort) and heart failure. The high levels of red blood cells that PV causes can lead to stomach ulcers, gout, or kidney stones.
                
Some people who have PV may develop myelofibrosis (MY-e-lo-fi-BRO-sis). This is a condition in which your bone marrow is replaced with scar tissue. Abnormal bone marrow cells may begin to grow out of control.
                
This abnormal growth can lead to acute myelogenous (my-eh-LOJ-eh-nus) leukemia (AML), a cancer of the blood and bone marrow. This disease can worsen very quickly.
Question: What are the genetic changes related to paroxysmal nocturnal hemoglobinuria ?

Answer: Mutations in the PIGA gene cause paroxysmal nocturnal hemoglobinuria.  The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. This protein takes part in a series of steps that produce a molecule called GPI anchor. GPI anchor attaches many different proteins to the cell membrane, thereby ensuring that these proteins are available when needed at the surface of the cell.  Some gene mutations are acquired during a person's lifetime and are present only in certain cells. These changes, which are called somatic mutations, are not inherited. In people with paroxysmal nocturnal hemoglobinuria, somatic mutations of the PIGA gene occur in blood-forming cells called hematopoietic stem cells, which are found mainly in the bone marrow. These mutations result in the production of abnormal blood cells. As the abnormal hematopoietic stem cells multiply, increasing numbers of abnormal blood cells are formed, alongside normal blood cells produced by normal hematopoietic stem cells.  The premature destruction of red blood cells seen in paroxysmal nocturnal hemoglobinuria is caused by a component of the immune system called complement. Complement consists of a group of proteins that work together to destroy foreign invaders such as bacteria and viruses. To protect the individual's own cells from being destroyed, this process is tightly controlled by complement-regulating proteins. Complement-regulating proteins normally protect red blood cells from destruction by complement. In people with paroxysmal nocturnal hemoglobinuria, however, abnormal red blood cells are missing two important complement-regulating proteins that need the GPI anchor protein to attach them to the cell membrane. These red blood cells are prematurely destroyed, leading to hemolytic anemia.  Research suggests that certain abnormal white blood cells that are also part of the immune system may mistakenly attack normal blood-forming cells, in a malfunction called an autoimmune process. In addition, abnormal hematopoietic stem cells in people with paroxysmal nocturnal hemoglobinuria may be less susceptible than normal cells to a process called apoptosis, which causes cells to self-destruct when they are damaged or unneeded. These features of the disorder may increase the proportion of abnormal blood cells in the body. The proportion of abnormal blood cells affects the severity of the signs and symptoms of paroxysmal nocturnal hemoglobinuria, including the risk of hemoglobinuria and thrombosis.
Question: What are the symptoms of Thiamine responsive megaloblastic anemia syndrome ?

Answer: What are the signs and symptoms of Thiamine responsive megaloblastic anemia syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Thiamine responsive megaloblastic anemia 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) Macrocytic anemia 90% Sensorineural hearing impairment 90% Type I diabetes mellitus 90% Optic atrophy 50% Thrombocytopenia 50% Abnormality of retinal pigmentation 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Short stature 7.5% Sudden cardiac death 7.5% Visual impairment 7.5% Ataxia 5% Cardiomyopathy 5% Cryptorchidism 5% Gastroesophageal reflux 5% Seizures 5% Situs inversus totalis 5% Stroke 5% Abnormality of the skin - Aminoaciduria - Arrhythmia - Atria septal defect - Autosomal recessive inheritance - Cone/cone-rod dystrophy - Congenital septal defect - Diabetes mellitus - Hoarse voice - Nystagmus - Retinal degeneration - Sideroblastic anemia - Thiamine-responsive megaloblastic anemia - Ventricular septal defect - Visual loss - 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 Pernicious Anemia ?

Answer: A lack of vitamin B12 (vitamin B12 deficiency) causes the signs and symptoms of pernicious anemia. Without enough vitamin B12, your body can't make enough healthy red blood cells, which causes anemia.
                
Some of the signs and symptoms of pernicious anemia apply to all types of anemia. Other signs and symptoms are specific to a lack of vitamin B12.
                
Signs and Symptoms of Anemia
                
The most common symptom of all types of anemia is fatigue (tiredness). Fatigue occurs because your body doesnt have enough red blood cells to carry oxygen to its various parts.
                
A low red blood cell count also can cause shortness of breath, dizziness, headache, coldness in your hands and feet, pale or yellowish skin, and chest pain.
                
A lack of red blood cells also means that your heart has to work harder to move oxygen-rich blood through your body. This can lead to irregular heartbeats called arrhythmias (ah-RITH-me-ahs), heart murmur, an enlarged heart, or even heart failure.
                
Signs and Symptoms of Vitamin B12 Deficiency
                
Vitamin B12 deficiency may lead to nerve damage. This can cause tingling and numbness in your hands and feet, muscle weakness, and loss of reflexes. You also may feel unsteady, lose your balance, and have trouble walking. Vitamin B12 deficiency can cause weakened bones and may lead to hip fractures.
                
Severe vitamin B12 deficiency can cause neurological problems, such as confusion, dementia, depression, and memory loss.
                
Other symptoms of vitamin B12 deficiency involve the digestive tract. These symptoms include nausea (feeling sick to your stomach) and vomiting, heartburn, abdominal bloating and gas, constipation or diarrhea, loss of appetite, and weight loss. An enlarged liver is another symptom.
                
A smooth, thick, red tongue also is a sign of vitamin B12 deficiency and pernicious anemia.
                
Infants who have vitamin B12 deficiency may have poor reflexes or unusual movements, such as face tremors. They may have trouble feeding due to tongue and throat problems. They also may be irritable. If vitamin B12 deficiency isn't treated, these infants may have permanent growth problems.