umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to antiphospholipid syndrome ?

Answer: The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but the antibodies in antiphospholipid syndrome attack normal human proteins. When these antibodies attach (bind) to proteins, the proteins change shape and bind to other molecules and receptors on the surface of cells. Binding to cells, particularly immune cells, turns on (activates) the blood clotting pathway and other immune responses.  The production of lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I may coincide with exposure to foreign invaders, such as viruses and bacteria, that are similar to normal human proteins. Exposure to these foreign invaders may cause the body to produce antibodies to fight the infection, but because the invaders are so similar to the body's own proteins, the antibodies also attack the human proteins. Similar triggers may occur during pregnancy when a woman's physiology, particularly her immune system, adapts to accommodate the developing fetus. These changes during pregnancy may explain the high rate of affected females.  Certain genetic variations (polymorphisms) in a few genes have been found in people with antiphospholipid syndrome and may predispose individuals to produce the specific antibodies known to contribute to the formation of thromboses. However, the contribution of these genetic changes to the development of the condition is unclear.  People who test positive for all three antibodies but have not had a thrombosis or recurrent miscarriages are said to be antiphospholipid carriers. These individuals are at greater risk of developing a thrombosis than is the general population.
Question: What causes Peyronie's Disease ?

Answer: Medical experts do not know the exact cause of Peyronies disease. Many believe that Peyronies disease may be the result of
                
- acute injury to the penis  - chronic, or repeated, injury to the penis  - autoimmune diseasea disorder in which the bodys immune system attacks the bodys own cells and organs
                
Injury to the Penis
                
Medical experts believe that hitting or bending the penis may injure the tissues inside. A man may injure the penis during sex, athletic activity, or an accident. Injury ruptures blood vessels, which leads to bleeding and swelling inside the layers of the tunica albuginea. Swelling inside the penis will block blood flow through the layers of tissue inside the penis. When the blood cant flow normally, clots can form and trap immune system cells. As the injury heals, the immune system cells may release substances that lead to the formation of too much scar tissue. The scar tissue builds up and forms a plaque inside the penis. The plaque reduces the elasticity of tissues and flexibility of the penis during erection, leading to curvature. The plaque may further harden because of calcificationthe process in which calcium builds up in body tissue.
                
Autoimmune Disease
                
Some medical experts believe that Peyronies disease may be part of an autoimmune disease. Normally, the immune system is the bodys way of protecting itself from infection by identifying and destroying bacteria, viruses, and other potentially harmful foreign substances. Men who have autoimmune diseases may develop Peyronies disease when the immune system attacks cells in the penis. This can lead to inflammation in the penis and can cause scarring. Medical experts do not know what causes autoimmune diseases. Some of the autoimmune diseases associated with Peyronies disease affect connective tissues. Connective tissue is specialized tissue that supports, joins, or separates different types of tissues and organs of the body.
Question: What to do for Prostate Enlargement: Benign Prostatic Hyperplasia ?

Answer: - Benign prostatic hyperplasiaalso called BPHis a condition in men in which the prostate gland is enlarged and not cancerous.  - The prostate is a walnut-shaped gland that is part of the male reproductive system.  - The cause of benign prostatic hyperplasia is not well understood; however, it occurs mainly in older men.  - Benign prostatic hyperplasia is the most common prostate problem for men older than age 50.  - Lower urinary tract symptoms suggestive of benign prostatic hyperplasia may include      - urinary frequencyurination eight or more times a day    - urinary urgencythe inability to delay urination    - trouble starting a urine stream    - a weak or an interrupted urine stream    - dribbling at the end of urination    - nocturiafrequent urination during periods of sleep    - urinary retentionthe inability to empty the bladder completely    - urinary incontinencethe accidental loss of urine    - pain after ejaculation or during urination    - urine that has an unusual color or smell    - The complications of benign prostatic hyperplasia may include      - acute urinary retention    - chronic, or long lasting, urinary retention    - blood in the urine    - urinary tract infections (UTIs)    - bladder damage    - kidney damage    - bladder stones    - A health care provider diagnoses benign prostatic hyperplasia based on      - a personal and family medical history    - a physical exam    - medical tests    - Treatment options for benign prostatic hyperplasia may include      - lifestyle changes    - medications    - minimally invasive procedures    - surgery    - The complications of benign prostatic hyperplasia treatment depend on the type of treatment.  - Researchers have not found a way to prevent benign prostatic hyperplasia.  - Researchers have not found that eating, diet, and nutrition play a role in causing or preventing benign prostatic hyperplasia.
Question: What are the stages of Chronic Myelogenous Leukemia ?

Answer: Key Points
                    - After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread.    - Chronic myelogenous leukemia has 3 phases.         - Chronic phase     - Accelerated phase     - Blastic phase
                
                
                    After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread.
                    Staging is the process used to find out how far the cancer has spread. There is no standard staging system for chronic myelogenous leukemia (CML). Instead, the disease is classified by phase: chronic phase, accelerated phase, or blastic phase. It is important to know the phase in order to plan treatment. The information from tests and procedures done to detect (find) and diagnose chronic myelogenous leukemia is also used to plan treatment.
                
                
                    Chronic myelogenous leukemia has 3 phases.
                    As the amount of blast cells increases in the blood and bone marrow, there is less room for healthy white blood cells, red blood cells, and platelets. This may result in infections, anemia, and easy bleeding, as well as bone pain and pain or a feeling of fullness below the ribs on the left side. The number of blast cells in the blood and bone marrow and the severity of signs or symptoms determine the phase of the disease.     Chronic phase    In chronic phase CML, fewer than 10% of the cells in the blood and bone marrow are blast cells.       Accelerated phase    In accelerated phase CML, 10% to 19% of the cells in the blood and bone marrow are blast cells.       Blastic phase    In blastic phase CML, 20% or more of the cells in the blood or bone marrow are blast cells. When tiredness, fever, and an enlarged spleen occur during the blastic phase, it is called blast crisis.
Question: What are the symptoms of Charcot-Marie-Tooth disease type 4B2 ?

Answer: What are the signs and symptoms of Charcot-Marie-Tooth disease type 4B2? The Human Phenotype Ontology provides the following list of signs and symptoms for Charcot-Marie-Tooth disease type 4B2. 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) Areflexia - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Difficulty walking - Distal amyotrophy - Distal muscle weakness - Distal sensory impairment - Foot dorsiflexor weakness - Glaucoma - Hammertoe - Hyporeflexia - Juvenile onset - Kyphoscoliosis - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensorineural hearing impairment - Steppage gait - Talipes equinovarus - Ulnar claw - 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 Hemochromatosis type 1 ?

Answer: What are the signs and symptoms of Hemochromatosis type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Hemochromatosis type 1. 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 glucose tolerance - Alopecia - Amenorrhea - Arrhythmia - Arthropathy - Ascites - Autosomal recessive inheritance - Azoospermia - Cardiomegaly - Cardiomyopathy - Cirrhosis - Congestive heart failure - Diabetes mellitus - Elevated hepatic transaminases - Hepatocellular carcinoma - Hepatomegaly - Hyperpigmentation of the skin - Hypogonadotrophic hypogonadism - Impotence - Increased serum ferritin - Increased serum iron - Osteoporosis - Pleural effusion - Splenomegaly - Telangiectasia - Testicular atrophy - 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 Maternal hyperphenylalaninemia ?

Answer: What are the signs and symptoms of Maternal hyperphenylalaninemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Maternal hyperphenylalaninemia. 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) Aminoaciduria 90% Cognitive impairment 50% Aggressive behavior - Anxiety - Attention deficit hyperactivity disorder - Autosomal recessive inheritance - Blue irides - Cataract - Cerebral calcification - Dry skin - Eczema - Fair hair - Generalized hypopigmentation - Hyperphenylalaninemia - Hyperreflexia - Intellectual disability - Irritability - Maternal hyperphenylalaninemia - Microcephaly - Obsessive-compulsive behavior - Phenylpyruvic acidemia - Psychosis - Reduced phenylalanine hydroxylase activity - Scleroderma - Seizures - Self-mutilation - 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 causes Hemophilia ?

Answer: A defect in one of the genes that determines how the body makes blood clotting factor VIII or IX causes hemophilia. These genes are located on the X chromosomes (KRO-muh-somz).
                
Chromosomes come in pairs. Females have two X chromosomes, while males have one X and one Y chromosome. Only the X chromosome carries the genes related to clotting factors.
                
A male who has a hemophilia gene on his X chromosome will have hemophilia. When a female has a hemophilia gene on only one of her X chromosomes, she is a "hemophilia carrier and can pass the gene to her children. Sometimes carriers have low levels of clotting factor and have symptoms of hemophilia, including bleeding. Clotting factors are proteins in the blood that work together with platelets to stop or control bleeding.
                
Very rarely, a girl may be born with a very low clotting factor level and have a greater risk for bleeding, similar to boys who have hemophilia and very low levels of clotting factor. There are several hereditary and genetic causes of this much rarer form of hemophilia in females.
                
Some males who have the disorder are born to mothers who aren't carriers. In these cases, a mutation (random change) occurs in the gene as it is passed to the child.
                
Below are two examples of how the hemophilia gene is inherited.
                
Inheritance Pattern for HemophiliaExample 1
                

                
Each daughter has a 50 percent chance of inheriting the hemophilia gene from her mother and being a carrier. Each son has a 50 percent chance of inheriting the hemophilia gene from his mother and having hemophilia.
                
Inheritance Pattern for HemophiliaExample 2
                

                
Each daughter will inherit the hemophilia gene from her father and be a carrier. None of the sons will inherit the hemophilia gene from their father; thus, none will have hemophilia.
Question: What are the genetic changes related to primary myelofibrosis ?

Answer: Mutations in the JAK2, MPL, CALR, and TET2 genes are associated with most cases of primary myelofibrosis. The JAK2 and MPL genes provide instructions for making proteins that promote the growth and division (proliferation) of blood cells. The CALR gene provides instructions for making a protein with multiple functions, including ensuring the proper folding of newly formed proteins and maintaining the correct levels of stored calcium in cells. The TET2 gene provides instructions for making a protein whose function is unknown.  The proteins produced from the JAK2 and MPL genes are both part of a signaling pathway called the JAK/STAT pathway, which transmits chemical signals from outside the cell to the cell's nucleus. The protein produced from the MPL gene, called thrombopoietin receptor, turns on (activates) the pathway, and the JAK2 protein transmits signals after activation. Through the JAK/STAT pathway, these two proteins promote the proliferation of blood cells, particularly a type of blood cell known as a megakaryocyte.  Mutations in either the JAK2 gene or the MPL gene that are associated with primary myelofibrosis lead to overactivation of the JAK/STAT pathway. The abnormal activation of JAK/STAT signaling leads to overproduction of abnormal megakaryocytes, and these megakaryocytes stimulate another type of cell to release collagen. Collagen is a protein that normally provides structural support for the cells in the bone marrow. However, in primary myelofibrosis, the excess collagen forms scar tissue in the bone marrow.  Although mutations in the CALR gene and the TET2 gene are relatively common in primary myelofibrosis, it is unclear how these mutations are involved in the development of the condition.  Some people with primary myelofibrosis do not have a mutation in any of the known genes associated with this condition. Researchers are working to identify other genes that may be involved in the condition.
Question: What are the genetic changes related to Cornelia de Lange syndrome ?

Answer: Cornelia de Lange syndrome can result from mutations in at least five genes: NIPBL, SMC1A, HDAC8, RAD21, and SMC3. Mutations in the NIPBL gene have been identified in more than half of all people with this condition; mutations in the other genes are much less common.  The proteins produced from all five genes contribute to the structure or function of the cohesin complex, a group of proteins with an important role in directing development before birth. Within cells, the cohesin complex helps regulate the structure and organization of chromosomes, stabilize cells' genetic information, and repair damaged DNA. The cohesin complex also regulates the activity of certain genes that guide the development of limbs, face, and other parts of the body.  Mutations in the NIPBL, SMC1A, HDAC8, RAD21, and SMC3 genes cause Cornelia de Lange syndrome by impairing the function of the cohesin complex, which disrupts gene regulation during critical stages of early development.  The features of Cornelia de Lange syndrome vary widely, and the severity of the disorder can differ even in individuals with the same gene mutation. Researchers suspect that additional genetic or environmental factors may be important for determining the specific signs and symptoms in each individual. In general, SMC1A, RAD21, and SMC3 gene mutations cause milder signs and symptoms than NIPBL gene mutations. Mutations in the HDAC8 gene cause a somewhat different set of features, including delayed closure of the "soft spot" on the head (the anterior fontanelle) in infancy, widely spaced eyes, and dental abnormalities. Like affected individuals with NIPBL gene mutations, those with HDAC8 gene mutations may have significant intellectual disability.  In about 30 percent of cases, the cause of Cornelia de Lange syndrome is unknown. Researchers are looking for additional changes in the five known genes, as well as mutations in other genes, that may cause this condition.
Question: What are the symptoms of Androgen insensitivity syndrome ?

Answer: What are the signs and symptoms of Androgen insensitivity syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Androgen insensitivity 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 hair quantity 90% Abnormality of female internal genitalia 90% Cryptorchidism 90% Decreased fertility 90% Male pseudohermaphroditism 90% Hernia of the abdominal wall 50% Testicular neoplasm 7.5% Absent facial hair - Elevated follicle stimulating hormone - Elevated luteinizing hormone - Female external genitalia in individual with 46,XY karyotype - Growth abnormality - Gynecomastia - Inguinal hernia - Neoplasm - Primary amenorrhea - Sparse axillary hair - Sparse pubic hair - X-linked recessive inheritance - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What are the symptoms of Microphthalmia mental deficiency ?

Answer: What are the signs and symptoms of Microphthalmia mental deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Microphthalmia mental deficiency. 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) Joint hypermobility 5% Overlapping toe 5% Agenesis of corpus callosum - Autosomal recessive inheritance - Cerebellar hypoplasia - Cerebral atrophy - Congenital cataract - Cryptorchidism - Deeply set eye - External genital hypoplasia - Facial hypertrichosis - Failure to thrive - Hyperreflexia - Hypoplasia of the corpus callosum - Intellectual disability - Kyphoscoliosis - Macrotia - Microcephaly - Microcornea - Microphthalmia - Muscular hypotonia - Optic atrophy - Osteoporosis - Ptosis - Short stature - Spastic diplegia - 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.