umarjan11/Medical-qna huggingface dataset:
Question: How to diagnose Aneurysm ?

Answer: If you have an aortic aneurysm but no symptoms, your doctor may find it by chance during a routine physical exam. More often, doctors find aneurysms during tests done for other reasons, such as chest or abdominal pain.
                
If you have an abdominal aortic aneurysm (AAA), your doctor may feel a throbbing mass in your abdomen. A rapidly growing aneurysm about to rupture (burst) can be tender and very painful when pressed. If you're overweight or obese, it may be hard for your doctor to feel even a large AAA.
                
If you have an AAA, your doctor may hear rushing blood flow instead of the normal whooshing sound when listening to your abdomen with a stethoscope.
                
Specialists Involved
                
Your primary care doctor may refer you to a cardiothoracic or vascular surgeon for diagnosis and treatment of an aortic aneurysm.
                
A cardiothoracic surgeon does surgery on the heart, lungs, and other organs and structures in the chest, including the aorta. A vascular surgeon does surgery on the aorta and other blood vessels, except those of the heart and brain.
                
Diagnostic Tests and Procedures
                
To diagnose and study an aneurysm, your doctor may recommend one or more of the following tests.
                
Ultrasound and Echocardiography
                
Ultrasound and echocardiography (echo) are simple, painless tests that use sound waves to create pictures of the structures inside your body. These tests can show the size of an aortic aneurysm, if one is found.
                
Computed Tomography Scan
                
A computed tomography scan, or CT scan, is a painless test that uses x rays to take clear, detailed pictures of your organs.
                
During the test, your doctor will inject dye into a vein in your arm. The dye makes your arteries, including your aorta, visible on the CT scan pictures.
                
Your doctor may recommend this test if he or she thinks you have an AAA or a thoracic aortic aneurysm (TAA). A CT scan can show the size and shape of an aneurysm. This test provides more detailed pictures than an ultrasound or echo.
                
Magnetic Resonance Imaging
                
Magnetic resonance imaging (MRI) uses magnets and radio waves to create pictures of the organs and structures in your body. This test works well for detecting aneurysms and pinpointing their size and exact location.
                
Angiography
                
Angiography (an-jee-OG-ra-fee) is a test that uses dye and special x rays to show the insides of your arteries. This test shows the amount of damage and blockage in blood vessels.
                
Aortic angiography shows the inside of your aorta. The test may show the location and size of an aortic aneurysm.
Question: What to do for What I need to know about Lactose Intolerance ?

Answer: Talk with your doctor about your dietary plan. A dietary plan can help you manage the symptoms of lactose intolerance and get enough nutrients. If you have a child with lactose intolerance, follow the diet plan that your childs doctor recommends.
                
Milk and milk products. You may be able to have milk and milk products without symptoms if you
                
- drink small amounts of milkhalf a cup or lessat a time  - drink small amounts of milk with meals, such as having milk with cereal or having cheese with crackers  - add small amounts of milk and milk products to your diet a little at a time and see how you feel  - eat milk products that are easier for people with lactose intolerance to break down:      - yogurt    - hard cheeses such as cheddar and Swiss
                

                
Lactose-free and lactose-reduced milk and milk products. You can find lactose-free and lactose-reduced milk and milk products at the grocery store. These products are just as healthy for you as regular milk and milk products.
                
Lactase products. You can use lactase tablets and drops when you have milk and milk products. The lactase enzyme breaks down the lactose in food. Using lactase tablets or drops can help you prevent symptoms of lactose intolerance. Check with your doctor before using these products. Some people, such as young children and pregnant and breastfeeding women, may not be able to use these products.
                

                

                
Calcium and Vitamin D   If you are lactose intolerant, make sure you get enough calcium each day. Milk and milk products are the most common sources of calcium. Other foods that contain calcium include   - fish with soft bones, such as canned salmon or sardines   - broccoli and other leafy green vegetables   - oranges   - almonds, Brazil nuts, and dried beans   - tofu   - products with the label showing added calcium, such as cereals, fruit juices, and soy milk    Vitamin D helps the body absorb and use calcium. Be sure to eat foods that contain vitamin D, such as eggs, liver, and certain kinds of fish, such as salmon. Also, being outside in the sunlight helps your body make vitamin D. Some companies add vitamin D to milk and milk products. If you are able to drink small amounts of milk or eat yogurt, choose those that have vitamin D added.   Talk with your doctor about how to get enough nutrientsincluding calcium and vitamin Din your diet or your childs diet. Ask if you should also take a supplement to get enough calcium and vitamin D.   For safety reasons, talk with your doctor before using dietary supplements or any other nonmainstream medicine together with or in place of the treatment your doctor prescribes. Read more at www.ods.od.nih.gov and www.nccam.nih.gov.
Question: What are the symptoms of Carnitine-acylcarnitine translocase deficiency ?

Answer: What are the signs and symptoms of Carnitine-acylcarnitine translocase deficiency? The signs of carnitine-acylcarnitine translocase deficiency usually begin within the first few hours after birth. Seizures, an irregular heartbeat (arrhythmia), and breathing problems are often the first signs of this disorder. This disorder may also result in an extremely low level of ketones, which are products of fat breakdown that are used for energy. Low blood sugar (hypoglycemia) is another major feature. Together these signs are called hypoketotic hypoglycemia, which can result in unconsciousness and seizures. Other signs that are often present include excess ammonia in the blood (hyperammonemia), an enlarged liver (hepatomegaly), heart abnormalities (cardiomyopathy), and muscle weakness. This disorder can cause sudden infant death. Children with the mild type of carnitine-acylcarnitine translocase deficiency usually start having symptoms before age three. They are at risk to have episodes of metabolic crisis, but usually do not have heart problems. The Human Phenotype Ontology provides the following list of signs and symptoms for Carnitine-acylcarnitine translocase 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) Atrioventricular block - Autosomal recessive inheritance - Bradycardia - Cardiomyopathy - Cardiorespiratory arrest - Coma - Dicarboxylic aciduria - Elevated hepatic transaminases - Elevated serum creatine phosphokinase - Hepatomegaly - Hyperammonemia - Hypoglycemia - Hypotension - Irritability - Lethargy - Muscle weakness - Muscular hypotonia - Rhabdomyolysis - Seizures - Ventricular extrasystoles - Ventricular hypertrophy - Ventricular tachycardia - 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 Kniest like dysplasia lethal ?

Answer: What are the signs and symptoms of Kniest like dysplasia lethal? The Human Phenotype Ontology provides the following list of signs and symptoms for Kniest like dysplasia lethal. 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 diaphysis morphology 90% Abnormal form of the vertebral bodies 90% Abnormality of the clavicle 90% Hydrops fetalis 90% Limb undergrowth 90% Lymphedema 90% Macrocephaly 90% Malar flattening 90% Muscular hypotonia 90% Narrow chest 90% Osteoarthritis 90% Respiratory insufficiency 90% Short neck 90% Short stature 90% Short thorax 90% Spina bifida occulta 90% Abnormality of the helix 50% Arrhythmia 50% Atria septal defect 50% Brachydactyly syndrome 50% Cleft palate 50% Depressed nasal bridge 50% Low-set, posteriorly rotated ears 50% Proptosis 50% Abnormality of the pinna - Autosomal recessive inheritance - Breech presentation - Broad ribs - Coronal cleft vertebrae - Dumbbell-shaped long bone - Edema - Flared metaphysis - Flat face - Hypertelorism - Hypoplastic ilia - Hypoplastic vertebral bodies - Lethal short-limbed short stature - Low-set ears - Narrow mouth - Patent ductus arteriosus - Platyspondyly - Polyhydramnios - Premature birth - Protuberant abdomen - Relative macrocephaly - Rhizomelia - Short diaphyses - Short ribs - Skeletal dysplasia - Talipes equinovarus - Wide anterior fontanel - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.
Question: What is (are) Stickler syndrome ?

Answer: Stickler syndrome is a group of hereditary conditions characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and joint problems. These signs and symptoms vary widely among affected individuals.  A characteristic feature of Stickler syndrome is a somewhat flattened facial appearance. This appearance results from underdeveloped bones in the middle of the face, including the cheekbones and the bridge of the nose. A particular group of physical features called Pierre Robin sequence is also common in people with Stickler syndrome. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). This combination of features can lead to feeding problems and difficulty breathing.  Many people with Stickler syndrome have severe nearsightedness (high myopia). In some cases, the clear gel that fills the eyeball (the vitreous) has an abnormal appearance, which is noticeable during an eye examination. Other eye problems are also common, including increased pressure within the eye (glaucoma), clouding of the lens of the eyes (cataracts), and tearing of the lining of the eye (retinal detachment). These eye abnormalities cause impaired vision or blindness in some cases.  In people with Stickler syndrome, hearing loss varies in degree and may become more severe over time. The hearing loss may be sensorineural, meaning that it results from changes in the inner ear, or conductive, meaning that it is caused by abnormalities of the middle ear.  Most people with Stickler syndrome have skeletal abnormalities that affect the joints. The joints of affected children and young adults may be loose and very flexible (hypermobile), though joints become less flexible with age. Arthritis often appears early in life and may cause joint pain or stiffness. Problems with the bones of the spine (vertebrae) can also occur, including abnormal curvature of the spine (scoliosis or kyphosis) and flattened vertebrae (platyspondyly). These spinal abnormalities may cause back pain.  Researchers have described several types of Stickler syndrome, which are distinguished by their genetic causes and their patterns of signs and symptoms. In particular, the eye abnormalities and severity of hearing loss differ among the types. Type I has the highest risk of retinal detachment. Type II also includes eye abnormalities, but type III does not (and is often called non-ocular Stickler syndrome). Types II and III are more likely than type I to have significant hearing loss. Types IV, V, and VI are very rare and have each been diagnosed in only a few individuals.  A condition similar to Stickler syndrome, called Marshall syndrome, is characterized by a distinctive facial appearance, eye abnormalities, hearing loss, and early-onset arthritis. Marshall syndrome can also include short stature. Some researchers have classified Marshall syndrome as a variant of Stickler syndrome, while others consider it to be a separate disorder.
Question: What are the genetic changes related to core binding factor acute myeloid leukemia ?

Answer: CBF-AML is associated with chromosomal rearrangements between chromosomes 8 and 21 and within chromosome 16. The rearrangements involve the RUNX1, RUNX1T1, CBFB, and MYH11 genes. Two of these genes, RUNX1 and CBFB, provide instructions for making the two pieces of a protein complex known as core binding factor (CBF). CBF attaches to certain regions of DNA and turns on genes that help control the development of blood cells (hematopoiesis). In particular, it plays an important role in development of hematopoietic stem cells. Chromosomal rearrangements involving the RUNX1 or CBFB gene alter CBF, leading to leukemia.  In CBF-AML, the RUNX1 gene is affected by a type of genetic rearrangement known as a translocation; in this type of change, pieces of DNA from two chromosomes break off and are interchanged. The most common translocation in this condition, called t(8;21), fuses a part of the RUNX1 gene on chromosome 21 with part of the RUNX1T1 gene (also known as ETO) on chromosome 8. The combination of these genes leads to production of the RUNX1-ETO fusion protein. This fusion protein is able to form CBF and attach to DNA, like the normal RUNX1 protein. However, because the function of the protein produced from the normal RUNX1T1 gene is to block gene activity, the abnormal CBF turns genes off instead of turning them on.  Other genetic rearrangements associated with CBF-AML alter the CBFB gene. One such rearrangement, called an inversion, involves breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. The inversion involved in CBF-AML (written as inv(16)) leads to the fusion of two genes on chromosome 16, CBFB and MYH11. Less commonly, a translocation involving chromosome 16, written as t(16;16), leads to the fusion of the same two genes. The protein produced from these genetic rearrangements is called CBF-MYH11. The fusion protein can form CBF, but it is thought that the presence of the MYH11 portion of the fusion protein prevents CBF from binding to DNA, impairing its ability to control gene activity. Alternatively, the MYH11 portion may interact with other proteins that prevent CBF from controlling gene activity.  The change in gene activity caused by alteration of CBF blocks the maturation (differentiation) of blood cells and leads to the production of abnormal myeloid blasts. However, a chromosomal rearrangement alone is usually not enough to cause leukemia; one or more additional genetic changes are needed for cancer to develop. The additional changes likely cause the immature cells to grow and divide uncontrollably, leading to the excess of myeloid blasts characteristic of CBF-AML.
Question: What are the stages of Ewing Sarcoma ?

Answer: Key Points
                    - The results of diagnostic and staging tests are used to find out if cancer cells have spread.    - Ewing sarcoma is described based on whether the cancer has spread from the bone or soft tissue in which the cancer began.          - Localized Ewing sarcoma     - Metastatic Ewing sarcoma        - There are three ways that cancer spreads in the body.    - Cancer may spread from where it began to other parts of the body.
                
                
                    The results of diagnostic and staging tests are used to find out if cancer cells have spread.
                    The process used to find out if cancer has spread from where it began to other parts of the body is called staging. There is no standard staging system for Ewing sarcoma. The results of the tests and procedures done to diagnose and stage Ewing sarcoma are used to group the tumors into localized or metastatic.
                
                
                    Ewing sarcoma is described based on whether the cancer has spread from the bone or soft tissue in which the cancer began.
                    Ewing sarcoma is described as either localized or metastatic.      Localized Ewing sarcoma    The cancer is found in the bone or soft tissue in which it began and may have spread to nearby tissue, including nearby lymph nodes.       Metastatic Ewing sarcoma     The cancer has spread from the bone or soft tissue in which it began to other parts of the body. In Ewing tumor of bone, the cancer most often spreads to the lung, other bones, and bone marrow.
                
                
                    There are three ways that cancer spreads in the body.
                    Cancer can spread through tissue, the lymph system, and the blood:         - Tissue. The cancer spreads from where it began by growing into nearby areas.     - Lymph system. The cancer spreads from where it began by getting into the lymph system. The cancer travels through the lymph vessels to other parts of the body.     - Blood. The cancer spreads from where it began by getting into the blood. The cancer travels through the blood vessels to other parts of the body.
                
                
                    Cancer may spread from where it began to other parts of the body.
                    When cancer spreads to another part of the body, it is called metastasis. Cancer cells break away from where they began (the primary tumor) and travel through the lymph system or blood.         - Lymph system. The cancer gets into the lymph system, travels through the lymph vessels, and forms a tumor (metastatic tumor) in another part of the body.    - Blood. The cancer gets into the blood, travels through the blood vessels, and forms a tumor (metastatic tumor) in another part of the body.        The metastatic tumor is the same type of cancer as the primary tumor. For example, if Ewing sarcoma spreads to the lung, the cancer cells in the lung are actually Ewing sarcoma cells. The disease is metastatic Ewing sarcoma, not lung cancer.
Question: What are the symptoms of Hyper-IgD syndrome ?

Answer: What are the signs and symptoms of Hyper-IgD syndrome? Hyper IgD syndrome is characterized by periodic high fevers accompanied by lymphadenopathy, abdominal pain, diarrhea, headache, joint pain, hepatomegaly and/or splenomegaly, and skin lesions. Most episodes last several days and occur periodically throughout life. The frequency of episodes and their severity vary greatly from case to case. The first attack usually takes place during infancy. Patients may have no symptoms between attacks. However, in some patients, the attacks may be so frequent that the symptoms persist. The Human Phenotype Ontology provides the following list of signs and symptoms for Hyper-IgD 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) Abdominal pain 90% Abnormality of temperature regulation 90% Arthralgia 90% Gastrointestinal hemorrhage 90% Hepatomegaly 90% Lymphadenopathy 90% Myalgia 90% Abnormality of the oral cavity 50% Arthritis 50% Diarrhea 50% Migraine 50% Urticaria 50% Vasculitis 50% Abnormal immunoglobulin level 7.5% Acrocyanosis 7.5% Cognitive impairment 7.5% Incoordination 7.5% Intestinal obstruction 7.5% Limitation of joint mobility 7.5% Peritonitis 7.5% Seizures 7.5% Subcutaneous hemorrhage 7.5% Rod-cone dystrophy 5% Autosomal recessive inheritance - Elevated erythrocyte sedimentation rate - Headache - Hypermelanotic macule - Increased IgA level - Leukocytosis - Nyctalopia - Optic disc pallor - Skin rash - Splenomegaly - Vertigo - Vomiting - 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.