umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Felty's syndrome ?

Answer: What are the signs and symptoms of Felty's syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Felty's 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 neutrophils 90% Arthralgia 90% Arthritis 90% Autoimmunity 90% Limitation of joint mobility 90% Osteolysis 90% Abnormality of lymphocytes 50% Anemia 50% Lymphadenopathy 50% Otitis media 50% Recurrent pharyngitis 50% Sinusitis 50% Splenomegaly 50% Weight loss 50% Abnormality of the pericardium 7.5% Abnormality of the pleura 7.5% Bone marrow hypocellularity 7.5% Cellulitis 7.5% Generalized hyperpigmentation 7.5% Hepatomegaly 7.5% Inflammatory abnormality of the eye 7.5% Irregular hyperpigmentation 7.5% Lymphoma 7.5% Peripheral neuropathy 7.5% Pulmonary fibrosis 7.5% Recurrent urinary tract infections 7.5% Sepsis 7.5% Skin ulcer 7.5% Thrombocytopenia 7.5% Autosomal dominant inheritance - Neutropenia - Rheumatoid arthritis - 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 Kaposi sarcoma ?

Answer: What are the signs and symptoms of Kaposi sarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Kaposi sarcoma. 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) Hepatomegaly 90% Splenomegaly 90% Abdominal pain 50% Chest pain 50% Abnormal blistering of the skin 7.5% Abnormal immunoglobulin level 7.5% Abnormality of temperature regulation 7.5% Abnormality of the pleura 7.5% Anemia 7.5% Arthritis 7.5% Ascites 7.5% Diabetes mellitus 7.5% Erectile abnormalities 7.5% Generalized hyperpigmentation 7.5% Glomerulopathy 7.5% Gynecomastia 7.5% Hypertrichosis 7.5% Hypothyroidism 7.5% Lymphadenopathy 7.5% Lymphedema 7.5% Peripheral neuropathy 7.5% Proteinuria 7.5% Renal insufficiency 7.5% Secondary amenorrhea 7.5% Skin rash 7.5% Subcutaneous hemorrhage 7.5% Tapered finger 7.5% Thrombocytopenia 7.5% Weight loss 7.5% Autosomal dominant inheritance - Edema - Hypermelanotic macule - Neoplasm - 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 genetic changes related to multiple epiphyseal dysplasia ?

Answer: Mutations in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 gene can cause dominant multiple epiphyseal dysplasia. These genes provide instructions for making proteins that are found in the spaces between cartilage-forming cells (chondrocytes). These proteins interact with each other and play an important role in cartilage and bone formation. Cartilage is a tough, flexible tissue that makes up much of the skeleton during early development. Most cartilage is later converted to bone, except for the cartilage that continues to cover and protect the ends of bones and is present in the nose and external ears.  The majority of individuals with dominant multiple epiphyseal dysplasia have mutations in the COMP gene. About 10 percent of affected individuals have mutations in the MATN3 gene. Mutations in the COMP or MATN3 gene prevent the release of the proteins produced from these genes into the spaces between the chondrocytes. The absence of these proteins leads to the formation of abnormal cartilage, which can cause the skeletal problems characteristic of dominant multiple epiphyseal dysplasia.  The COL9A1, COL9A2, and COL9A3 genes provide instructions for making a protein called type IX collagen. Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, cartilage, tendons, and ligaments. Mutations in the COL9A1, COL9A2, or COL9A3 gene are found in less than five percent of individuals with dominant multiple epiphyseal dysplasia. It is not known how mutations in these genes cause the signs and symptoms of this disorder. Research suggests that mutations in these genes may cause type IX collagen to accumulate inside the cell or interact abnormally with other cartilage components.  Some people with dominant multiple epiphyseal dysplasia do not have a mutation in the COMP, COL9A1, COL9A2, COL9A3, or MATN3 gene. In these cases, the cause of the condition is unknown.  Mutations in the SLC26A2 gene cause recessive multiple epiphyseal dysplasia. This gene provides instructions for making a protein that is essential for the normal development of cartilage and for its conversion to bone. Mutations in the SLC26A2 gene alter the structure of developing cartilage, preventing bones from forming properly and resulting in the skeletal problems characteristic of recessive multiple epiphyseal dysplasia.
Question: What are the genetic changes related to Charcot-Marie-Tooth disease ?

Answer: Charcot-Marie-Tooth disease is caused by mutations in many different genes. These genes provide instructions for making proteins that are involved in the function of peripheral nerves in the feet, legs, and hands. The gene mutations that cause Charcot-Marie-Tooth disease affect the function of the proteins in ways that are not fully understood; however, they likely impair axons, which transmit nerve impulses, or affect the specialized cells that produce myelin. As a result, peripheral nerve cells slowly lose the ability to stimulate the muscles and to transmit sensory signals to the brain.  The list of genes associated with Charcot-Marie-Tooth disease continues to grow as researchers study this disorder. Different mutations within a particular gene may cause signs and symptoms of differing severities or lead to different types of Charcot-Marie-Tooth disease.  CMT1 is caused by mutations in the following genes: PMP22 (CMT1A and CMT1E), MPZ (CMT1B), LITAF (CMT1C), EGR2 (CMT1D), and NEFL (CMT1F).  CMT2 can result from alterations in many genes, including MFN2 and KIF1B (CMT2A); RAB7A (CMT2B); LMNA (CMT2B1); TRPV4 (CMT2C); BSCL2 and GARS (CMT2D); NEFL (CMT2E); HSPB1 (CMT2F); MPZ (CMT2I and CMT2J); GDAP1 (CMT2K); and HSPB8 (CMT2L). Certain DNM2 gene mutations also cause a form of CMT2.  CMT4 is caused by mutations in the following genes: GDAP1 (CMT4A), MTMR2 (CMT4B1), SBF2 (CMT4B2), SH3TC2 (CMT4C), NDRG1 (CMT4D), EGR2 (CMT4E), PRX (CMT4F), FGD4 (CMT4H), and FIG4 (CMT4J).  Intermediate forms of the disorder can be caused by alterations in genes including DNM2, MPZ, YARS, and GDAP1. CMTX is caused by mutations in genes including GJB1 (CMTX1) and PRPS1 (CMTX5). Mutations in additional genes, some of which have not been identified, also cause various forms of Charcot-Marie-Tooth disease.
Question: What is (are) Stevens-Johnson syndrome/toxic epidermal necrolysis ?

Answer: Stevens-Johnson syndrome/toxic epidermal necrolysis (SJS/TEN) is a severe skin reaction most often triggered by particular medications. Although Stevens-Johnson syndrome and toxic epidermal necrolysis were once thought to be separate conditions, they are now considered part of a continuum. Stevens-Johnson syndrome represents the less severe end of the disease spectrum, and toxic epidermal necrolysis represents the more severe end.  SJS/TEN often begins with a fever and flu-like symptoms. Within a few days, the skin begins to blister and peel, forming very painful raw areas called erosions that resemble a severe hot-water burn. The skin erosions usually start on the face and chest before spreading to other parts of the body. In most affected individuals, the condition also damages the mucous membranes, including the lining of the mouth and the airways, which can cause trouble with swallowing and breathing. The painful blistering can also affect the urinary tract and genitals. SJS/TEN often affects the eyes as well, causing irritation and redness of the conjunctiva, which are the mucous membranes that protect the white part of the eye and line the eyelids, and damage to the clear front covering of the eye (the cornea).  Severe damage to the skin and mucous membranes makes SJS/TEN a life-threatening disease. Because the skin normally acts as a protective barrier, extensive skin damage can lead to a dangerous loss of fluids and allow infections to develop. Serious complications can include pneumonia, overwhelming bacterial infections (sepsis), shock, multiple organ failure, and death. About 10 percent of people with Stevens-Johnson syndrome die from the disease, while the condition is fatal in up to 50 percent of those with toxic epidermal necrolysis.  Among people who survive, long-term effects of SJS/TEN can include changes in skin coloring (pigmentation), dryness of the skin and mucous membranes (xerosis), excess sweating (hyperhidrosis), hair loss (alopecia), and abnormal growth or loss of the fingernails and toenails. Other long-term problems can include impaired taste, difficulty urinating, and genital abnormalities. A small percentage of affected individuals develop chronic dryness or inflammation of the eyes, which can lead to increased sensitivity to light (photophobia) and vision impairment.
Question: What are the genetic changes related to asphyxiating thoracic dystrophy ?

Answer: Mutations in at least 11 genes have been found to cause asphyxiating thoracic dystrophy. Genetic changes in the IFT80 gene were the first to be associated with this condition. Later, researchers discovered that mutations in another gene, DYNC2H1, account for up to half of all cases. Mutations in other genes each cause a small percentage of cases. In total, about 70 percent of people with asphyxiating thoracic dystrophy have mutations in one of the known genes.  The genes associated with asphyxiating thoracic dystrophy provide instructions for making proteins that are found in cell structures called cilia. Cilia are microscopic, finger-like projections that stick out from the surface of cells. The proteins are involved in a process called intraflagellar transport (IFT), by which materials are carried to and from the tips of cilia. IFT is essential for the assembly and maintenance of these cell structures. Cilia play central roles in many different chemical signaling pathways, including a series of reactions called the Sonic Hedgehog pathway. These pathways are important for the growth and division (proliferation) and maturation (differentiation) of cells. In particular, Sonic Hedgehog appears to be essential for the proliferation and differentiation of cells that ultimately give rise to cartilage and bone.  Mutations in the genes associated with asphyxiating thoracic dystrophy impair IFT, which disrupts the normal assembly or function of cilia. As a result, cilia are missing or abnormal in many different kinds of cells. Researchers speculate that these changes alter signaling through certain signaling pathways, including the Sonic Hedgehog pathway, which may underlie the abnormalities of bone growth characteristic of asphyxiating thoracic dystrophy. Abnormal cilia in other tissues, such as the kidneys, liver, and retinas, cause the other signs and symptoms of the condition.  Asphyxiating thoracic dystrophy is part of a group of disorders known as skeletal ciliopathies or ciliary chondrodysplasias, all of which are caused by problems with cilia and involve bone abnormalities. Several of these disorders, including asphyxiating thoracic dystrophy, are sometimes classified more specifically as short rib-polydactyly syndromes (SRPSs) based on their signs and symptoms. Some researchers believe that SRPSs would be more accurately described as a spectrum with a range of features rather than as separate disorders.
Question: What are the symptoms of Mucopolysaccharidosis type IV ?

Answer: What are the signs and symptoms of Mucopolysaccharidosis type IV? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IV. 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 metaphyses 90% Abnormality of the ribs 90% Delayed skeletal maturation 90% Gait disturbance 90% Genu valgum 90% Hearing impairment 90% Joint hypermobility 90% Mucopolysacchariduria 90% Opacification of the corneal stroma 90% Pectus carinatum 90% Reduced bone mineral density 90% Short neck 90% Short stature 90% Short thorax 90% Abnormality of dental enamel 50% Abnormality of the heart valves 50% Abnormality of the hip bone 50% Anteverted nares 50% Carious teeth 50% Coarse facial features 50% Hernia 50% Hyperlordosis 50% Joint dislocation 50% Kyphosis 50% Platyspondyly 50% Scoliosis 50% Spinal canal stenosis 50% Wide mouth 50% Cognitive impairment 7.5% Macrocephaly 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: Who is at risk for Atrial Fibrillation? ?

Answer: Atrial fibrillation (AF) affects millions of people, and the number is rising. Men are more likely than women to have the condition. In the United States, AF is more common among Whites than African Americans or Hispanic Americans.
                
The risk of AF increases as you age. This is mostly because your risk for heart disease and other conditions that can cause AF also increases as you age. However, about half of the people who have AF are younger than 75.
                
AF is uncommon in children.
                
Major Risk Factors
                
AF is more common in people who have:
                
High blood pressure
                
Coronary heart disease (CHD)
                
Heart failure
                
Rheumatic (ru-MAT-ik) heart disease
                
Structural heart defects, such as mitral valve prolapse
                
Pericarditis (PER-i-kar-DI-tis; a condition in which the membrane, or sac, around your heart is inflamed)
                
Congenital heart defects
                
Sick sinus syndrome (a condition in which the heart's electrical signals don't fire properly and the heart rate slows down; sometimes the heart will switch back and forth between a slow rate and a fast rate)
                
AF also is more common in people who are having heart attacks or who have just had surgery.
                
Other Risk Factors
                
Other conditions that raise your risk for AF include hyperthyroidism (too much thyroid hormone), obesity, diabetes, and lung disease.
                
Certain factors also can raise your risk for AF. For example, drinking large amounts of alcohol, especially binge drinking, raises your risk. Even modest amounts of alcohol can trigger AF in some people. Caffeine or psychological stress also may trigger AF in some people.
                
Some data suggest that people who have sleep apnea are at greater risk for AF. Sleep apnea is a common disorder that causes one or more pauses in breathing or shallow breaths while you sleep.
                
Metabolic syndrome also raises your risk for AF. Metabolic syndrome is the name for a group of risk factors that raises your risk for CHD and other health problems, such as diabetes and stroke.
                
Research suggests that people who receive high-dose steroid therapy are at increased risk for AF. This therapy is used for asthma and some inflammatory conditions. It may act as a trigger in people who have other AF risk factors.
                
Genetic factors also may play a role in causing AF. However, their role isn't fully known.
Question: What is (are) glycogen storage disease type VII ?

Answer: Glycogen storage disease type VII (GSDVII) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in muscle cells. A lack of glycogen breakdown interferes with the function of muscle cells.  There are four types of GSDVII. They are differentiated by their signs and symptoms and the age at which symptoms first appear.  The classical form of GSDVII is the most common form. Its features usually appear in childhood. This form is characterized by muscle pain and cramps, often following moderate exercise; strenuous exercise can lead to nausea and vomiting. During exercise, muscle tissue can be abnormally broken down, releasing a protein called myoglobin. This protein is processed by the kidneys and released in the urine (myoglobinuria). If untreated, myoglobinuria can damage the kidneys and lead to kidney failure. Some people with the classical form of GSDVII develop high levels of a waste product called uric acid in the blood (hyperuricemia) because the damaged kidneys are unable to remove uric acid effectively. Affected individuals may also have elevated levels of a molecule called bilirubin in the blood that can cause yellowing of the skin and whites of the eyes (jaundice). Individuals with classical GSDVII often have elevated levels of an enzyme called creatine kinase in their blood. This finding is a common indicator of muscle disease.  Infants with the severe infantile form of GSDVII have low muscle tone (hypotonia) at birth, which leads to muscle weakness (myopathy) that worsens over time. Affected infants have a weakened and enlarged heart (cardiomyopathy) and difficulty breathing normally. Individuals with this form of GSDVII usually do not survive past their first year of life.  In the late-onset form of GSDVII, myopathy is typically the only feature. The muscle weakness appears in adulthood, although some individuals have difficulty with sustained exercise starting in childhood. The weakness generally affects the muscles closest to the center of the body (proximal muscles).  The hemolytic form of GSDVII is characterized by hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, causing a shortage of red blood cells (anemia). People with the hemolytic form of GSDVII do not experience any signs or symptoms of muscle pain or weakness related to the disorder.
Question: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?

Answer: You already know you need to watch how much you drink. Any food that is liquid at room temperature also contains water. These foods include soup, Jell-O, and ice cream. Many fruits and vegetables contain lots of water, too. They include melons, grapes, apples, oranges, tomatoes, lettuce, and celery. All these foods add to your fluid intake.
                
Fluid can build up between dialysis sessions, causing swelling and weight gain. The extra fluid affects your blood pressure and can make your heart work harder. You could have serious heart trouble from overloading your system with fluid.
                
Control Your Thirst   The best way to reduce fluid intake is to reduce thirst caused by the salt you eat. Avoid salty foods like chips and pretzels. Choose low-sodium products.   You can keep your fluids down by drinking from smaller cups or glasses. Freeze juice in an ice cube tray and eat it like a popsicle. (Remember to count the popsicle in your fluid allowance!) The dietitian will be able to give you other tips for managing your thirst.
                
Your dry weight is your weight after a dialysis session when all of the extra fluid in your body has been removed. If you let too much fluid build up between sessions, it is harder to get down to your proper dry weight. Your dry weight may change over a period of 3 to 6 weeks. Talk with your doctor regularly about what your dry weight should be.
                
My dry weight should be _____________.
                
Talk With a Dietitian   Even though you are on hemodialysis, your kidneys may still be able to remove some fluid. Or your kidneys may not remove any fluid at all. That is why every patient has a different daily allowance for fluid. Talk with your dietitian about how much fluid you can have each day.   I can have _____ ounces of fluid each day.   Plan 1 day of fluid servings:   I can have _____ ounce(s) of ______________ with breakfast.   I can have _____ ounce(s) of ______________ in the morning.   I can have _____ ounce(s) of ______________ with lunch.   I can have _____ ounce(s) of ______________ in the afternoon.   I can have _____ ounce(s) of ______________ with supper.   I can have _____ ounce(s) of ______________ in the evening.   TOTAL _______ ounces (should equal the allowance written above)