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

Answer: Your doctor will diagnose the cause of your cough based on your medical history, a physical exam, and test results.
                
Medical History
                
Your doctor will likely ask questions about your cough. He or she may ask how long you've had it, whether you're coughing anything up (such as mucus, a slimy substance), and how much you cough.
                
Your doctor also may ask:
                
About your medical history, including whether you have allergies, asthma, or other medical conditions.
                
Whether you have heartburn or a sour taste in your mouth. These may be signs of gastroesophageal reflux disease (GERD).
                
Whether you've recently had a cold or the flu.
                
Whether you smoke or spend time around others who smoke.
                
Whether you've been around air pollution, a lot of dust, or fumes.
                
Physical Exam
                
To check for signs of problems related to cough, your doctor will use a stethoscope to listen to your lungs. He or she will listen for wheezing (a whistling or squeaky sound when you breathe) or other abnormal sounds.
                
Diagnostic Tests
                
Your doctor may recommend tests based on the results of your medical history and physical exam. For example, if you have symptoms of GERD, your doctor may recommend a pH probe. This test measures the acid level of the fluid in your throat.
                
Other tests may include:
                
An exam of the mucus from your nose or throat. This test can show whether you have a bacterial infection.
                
A chest x ray. A chest x ray takes a picture of your heart and lungs. This test can help diagnose conditions such as pneumonia and lung cancer.
                
Lung function tests. These tests measure how much air you can breathe in and out, how fast you can breathe air out, and how well your lungs deliver oxygen to your blood. Lung function tests can help diagnose asthma and other conditions.
                
An x ray of the sinuses. This test can help diagnose a sinus infection.
Question: What are the symptoms of ARDS ?

Answer: The first signs and symptoms of ARDS are feeling like you can't get enough air into your lungs, rapid breathing, and a low blood oxygen level.
                
Other signs and symptoms depend on the cause of ARDS. They may occur before ARDS develops. For example, if pneumonia is causing ARDS, you may have a cough and fever before you feel short of breath.
                
Sometimes people who have ARDS develop signs and symptoms such as low blood pressure, confusion, and extreme tiredness. This may mean that the body's organs, such as the kidneys and heart, aren't getting enough oxygen-rich blood.
                
People who develop ARDS often are in the hospital for other serious health problems. Rarely, people who aren't hospitalized have health problems that lead to ARDS, such as severe pneumonia.
                
If you have trouble breathing, call your doctor right away. If you have severe shortness of breath, call 911.
                
Complications From ARDS
                
If you have ARDS, you can develop other medical problems while in the hospital. The most common problems are: 
                
Infections. Being in the hospital and lying down for a long time can put you at risk for infections, such as pneumonia. Being on a ventilator also puts you at higher risk for infections.
                
A pneumothorax (collapsed lung). This is a condition in which air or gas collects in the space around the lungs. This can cause one or both lungs to collapse. The air pressure from a ventilator can cause this condition.
                
Lung scarring. ARDS causes the lungs to become stiff (scarred). It also makes it hard for the lungs to expand and fill with air. Being on a ventilator also can cause lung scarring.
                
Blood clots. Lying down for long periods can cause blood clots to form in your body. A blood clot that forms in a vein deep in your body is called a deep vein thrombosis. This type of blood clot can break off, travel through the bloodstream to the lungs, and block blood flow. This condition is called pulmonary embolism.
Question: What are the genetic changes related to spondyloenchondrodysplasia with immune dysregulation ?

Answer: Mutations in the ACP5 gene cause SPENCDI. This gene provides instructions for making an enzyme called tartrate-resistant acid phosphatase type 5 (TRAP). The TRAP enzyme primarily regulates the activity of a protein called osteopontin, which is produced in bone cells called osteoclasts and in immune cells. Osteopontin performs a variety of functions in these cells.  Osteoclasts are specialized cells that break down and remove (resorb) bone tissue that is no longer needed. These cells are involved in bone remodeling, which is a normal process that replaces old bone tissue with new bone. During bone remodeling, osteopontin is turned on (activated), allowing osteoclasts to attach (bind) to bones. When the breakdown of bone is complete, TRAP turns off (inactivates) osteopontin, causing the osteoclasts to release themselves from bone.  In immune system cells, osteopontin helps fight infection by promoting inflammation, regulating immune cell activity, and turning on various immune system cells that are necessary to fight off foreign invaders. As in bone cells, the TRAP enzyme inactivates osteopontin in immune cells when it is no longer needed.  The ACP5 gene mutations that cause SPENCDI impair or eliminate TRAP's ability to inactivate osteopontin. As a result, osteopontin is abnormally active, prolonging bone breakdown by osteoclasts and triggering abnormal inflammation and immune responses by immune cells. In people with SPENCDI, increased bone remodeling contributes to the skeletal abnormalities, including irregularly shaped bones and short stature. An overactive immune system leads to increased susceptibility to autoimmune disorders and impairs the body's normal immune response to harmful invaders, resulting in frequent infections. The mechanism that leads to the other features of SPENCDI, including movement disorders and intellectual disability, is currently unknown.
Question: What are the genetic changes related to Kabuki syndrome ?

Answer: Kabuki syndrome is caused by mutations in the KMT2D gene (also known as MLL2) or the KDM6A gene.  Between 55 and 80 percent of cases of Kabuki syndrome are caused by mutations in the KMT2D gene. This gene provides instructions for making an enzyme called lysine-specific methyltransferase 2D that is found in many organs and tissues of the body. Lysine-specific methyltransferase 2D functions as a histone methyltransferase. Histone methyltransferases are enzymes that modify proteins called histones. Histones are structural proteins that attach (bind) to DNA and give chromosomes their shape. By adding a molecule called a methyl group to histones (a process called methylation), histone methyltransferases control (regulate) the activity of certain genes. Lysine-specific methyltransferase 2D appears to activate certain genes that are important for development.  About 6 percent of cases of Kabuki syndrome are caused by mutations in the KDM6A gene. This gene provides instructions for making an enzyme called lysine-specific demethylase 6A. This enzyme is a histone demethylase, which means that it helps to remove methyl groups from certain histones. Like lysine-specific methyltransferase 2D, lysine-specific demethylase 6A regulates the activity of certain genes, and research suggests that the two enzymes work together to control certain developmental processes.  The KMT2D and KDM6A gene mutations associated with Kabuki syndrome lead to the absence of the corresponding functional enzyme. A lack of the enzymes produced from these genes disrupts normal histone methylation and impairs proper activation of certain genes in many of the body's organs and tissues, resulting in the abnormalities of development and function characteristic of Kabuki syndrome.  Some people with Kabuki syndrome have no identified KMT2D or KDM6A gene mutation. The cause of the disorder in these individuals is unknown.
Question: What is (are) Kidney Failure: Eat Right to Feel Right on Hemodialysis ?

Answer: Potassium is a mineral found in many foods, especially milk, fruits, and vegetables. It affects how steadily your heart beats. Healthy kidneys keep the right amount of potassium in the blood to keep the heart beating at a steady pace. Potassium levels can rise between dialysis sessions and affect your heartbeat. Eating too much potassium can be very dangerous to your heart. It may even cause death.
                
To control potassium levels in your blood, avoid foods like avocados, bananas, kiwis, and dried fruit, which are very high in potassium. Also, eat smaller portions of other high-potassium foods. For example, eat half a pear instead of a whole pear. Eat only very small portions of oranges and melons.
                
Dicing and Boiling Potatoes to Reduce Potassium   You can remove some of the potassium from potatoes by dicing or shredding them and then boiling them in water. Your dietitian will give you more specific information about the potassium content of foods.
                

                

                
Talk With a Dietitian   Make a food plan that reduces the potassium in your diet. Start by noting the high-potassium foods (below) that you now eat. A dietitian can help you add other foods to the list.           High-Potassium Foods               apricots avocados bananas beets Brussels sprouts cantaloupe clams dates figs     kiwi fruit lima beans melons milk nectarines orange juice oranges peanuts pears (fresh)     potatoes prune juice prunes raisins sardines spinach tomatoes winter squash yogurt         Others:______________________________________   Changes:   Talk with a dietitian about foods you can eat instead of high-potassium foods.   Instead of _________, I will eat _________.   Instead of _________, I will eat _________.   Instead of _________, I will eat _________.   Instead of _________, I will eat _________.
Question: What is (are) Autoimmune Hepatitis ?

Answer: Autoimmune hepatitis is classified into several types. Type 1 autoimmune hepatitis is the most common form in North America. Type 1 can occur at any age; however, it most often starts in adolescence or young adulthood. About 70 percent of people with type 1 autoimmune hepatitis are female.1
                
People with type 1 autoimmune hepatitis commonly have other autoimmune disorders, such as
                
- celiac disease, an autoimmune disease in which people cannot tolerate gluten because it damages the lining of their small intestine and prevents absorption of nutrients  - Crohn's disease, which causes inflammation and irritation of any part of the digestive tract  - Graves' disease, the most common cause of hyperthyroidism in the United States  - Hashimoto's disease, also called chronic lymphocytic thyroiditis or autoimmune thyroiditis, a form of chronic inflammation of the thyroid gland  - proliferative glomerulonephritis, or inflammation of the glomeruli, which are tiny clusters of looping blood vessels in the kidneys  - primary sclerosing cholangitis, which causes irritation, scarring, and narrowing of the bile ducts inside and outside the liver  - rheumatoid arthritis, which causes pain, swelling, stiffness, and loss of function in the joints  - Sjgren's syndrome, which causes dryness in the mouth and eyes  - systemic lupus erythematosus, which causes kidney inflammation called lupus nephritis  - type 1 diabetes, a condition characterized by high blood glucose, also called blood sugar, levels caused by a total lack of insulin  - ulcerative colitis, a chronic disease that causes inflammation and sores, called ulcers, in the inner lining of the large intestine
                
Type 2 autoimmune hepatitis is less common and occurs more often in children than adults.1 People with type 2 can also have any of the above autoimmune disorders.
Question: What are the symptoms of Yorifuji Okuno syndrome ?

Answer: What are the signs and symptoms of Yorifuji Okuno syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Yorifuji Okuno 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) Biliary atresia 5% Congenital diaphragmatic hernia 5% Inguinal hernia 5% Intestinal malrotation 5% Microcephaly 5% Microcolon 5% Seizures 5% Single umbilical artery 5% Umbilical hernia 5% Ureteral duplication 5% Autosomal dominant inheritance - Diabetes mellitus - Failure to thrive - Glycosuria - Hyperglycemia - Interrupted aortic arch - Intrauterine growth retardation - Pancreatic hypoplasia - Patent ductus arteriosus - Patent foramen ovale - Perimembranous ventricular septal defect - Pulmonic stenosis - Tetralogy of Fallot - Transposition of the great arteries - Truncus arteriosus - 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 IMAGe syndrome ?

Answer: What are the signs and symptoms of IMAGe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for IMAGe 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 the adrenal glands 90% Abnormality of the upper urinary tract 90% Cryptorchidism 90% Depressed nasal bridge 90% Displacement of the external urethral meatus 90% Frontal bossing 90% Intrauterine growth retardation 90% Low-set, posteriorly rotated ears 90% Micromelia 90% Muscular hypotonia 90% Macrocephaly 5% Adrenal hypoplasia - Autosomal dominant inheritance - Delayed skeletal maturation - Epiphyseal dysplasia - Growth hormone deficiency - Hypercalcemia - Hypercalciuria - Hypospadias - Low-set ears - Metaphyseal dysplasia - Micropenis - Postnatal growth retardation - Prominent forehead - Short nose - 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) cranioectodermal dysplasia ?

Answer: Cranioectodermal dysplasia is a disorder that affects many parts of the body. The most common features involve bone abnormalities and abnormal development of certain tissues known as ectodermal tissues, which include the skin, hair, nails, and teeth. The signs and symptoms of this condition vary among affected individuals, even among members of the same family.  Distinctive abnormalities of the skull and face are common in people with cranioectodermal dysplasia. Most affected individuals have a prominent forehead (frontal bossing) and an elongated head (dolichocephaly) due to abnormal fusion of certain skull bones (sagittal craniosynostosis). A variety of facial abnormalities can occur in people with this condition; these include low-set ears that may also be rotated backward, an increased distance between the inner corners of the eyes (telecanthus), and outside corners of the eyes that point upward or downward (upslanting or downslanting palpebral fissures) among others.  Development of bones in the rest of the skeleton is also affected in this condition. Abnormalities in the long bones of the arms and legs (metaphyseal dysplasia) lead to short limbs and short stature. In addition, affected individuals often have short fingers (brachydactyly). Some people with this condition have short rib bones and a narrow rib cage, which can cause breathing problems, especially in affected newborns.  Abnormal development of ectodermal tissues in people with cranioectodermal dysplasia can lead to sparse hair, small or missing teeth, short fingernails and toenails, and loose skin.  Cranioectodermal dysplasia can affect additional organs and tissues in the body. A kidney disorder known as nephronophthisis occurs in many people with this condition, and it can lead to a life-threatening failure of kidney function known as end-stage renal disease. Abnormalities of the liver, heart, or eyes also occur in people with cranioectodermal dysplasia.
Question: What is (are) alpha thalassemia X-linked intellectual disability syndrome ?

Answer: Alpha thalassemia X-linked intellectual disability syndrome is an inherited disorder that affects many parts of the body. This condition occurs almost exclusively in males.  Males with alpha thalassemia X-linked intellectual disability syndrome have intellectual disability and delayed development. Their speech is significantly delayed, and most never speak or sign more than a few words. Most affected children have weak muscle tone (hypotonia), which delays motor skills such as sitting, standing, and walking. Some people with this disorder are never able to walk independently.  Almost everyone with alpha thalassemia X-linked intellectual disability syndrome has distinctive facial features, including widely spaced eyes, a small nose with upturned nostrils, and low-set ears. The upper lip is shaped like an upside-down "V," and the lower lip tends to be prominent. These facial characteristics are most apparent in early childhood. Over time, the facial features become coarser, including a flatter face with a shortened nose.  Most affected individuals have mild signs of a blood disorder called alpha thalassemia. This disorder reduces the production of hemoglobin, which is the protein in red blood cells that carries oxygen to cells throughout the body. A reduction in the amount of hemoglobin prevents enough oxygen from reaching the body's tissues. Rarely, affected individuals also have a shortage of red blood cells (anemia), which can cause pale skin, weakness, and fatigue.  Additional features of alpha thalassemia X-linked intellectual disability syndrome include an unusually small head size (microcephaly), short stature, and skeletal abnormalities. Many affected individuals have problems with the digestive system, such as a backflow of stomach acids into the esophagus (gastroesophageal reflux) and chronic constipation. Genital abnormalities are also common; affected males may have undescended testes and the opening of the urethra on the underside of the penis (hypospadias). In more severe cases, the external genitalia do not look clearly male or female (ambiguous genitalia).
Question: What are the symptoms of Pilodental dysplasia with refractive errors ?

Answer: What are the signs and symptoms of Pilodental dysplasia with refractive errors? The Human Phenotype Ontology provides the following list of signs and symptoms for Pilodental dysplasia with refractive errors. 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 dental morphology 90% Anteverted nares 90% Hypermetropia 90% Hypohidrosis 90% Irregular hyperpigmentation 90% Long philtrum 90% Myopia 90% Reduced number of teeth 90% Thin vermilion border 90% Astigmatism 50% Hyperkeratosis 50% Cognitive impairment 7.5% Abnormality of the nail - Autosomal recessive inheritance - Brittle hair - Conical incisor - Ectodermal dysplasia - Follicular hyperkeratosis - Hypodontia - Reticular hyperpigmentation - Sparse scalp hair - Wide nasal bridge - 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 Hypertrophic neuropathy of Dejerine-Sottas ?

Answer: What are the signs and symptoms of Hypertrophic neuropathy of Dejerine-Sottas? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypertrophic neuropathy of Dejerine-Sottas. 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) Nystagmus 5% Areflexia - Autosomal dominant inheritance - Autosomal recessive inheritance - Decreased motor nerve conduction velocity - Decreased number of peripheral myelinated nerve fibers - Distal amyotrophy - Distal sensory impairment - Foot dorsiflexor weakness - Hammertoe - Heterogeneous - Hypertrophic nerve changes - Hyporeflexia - Increased CSF protein - Infantile onset - Kyphoscoliosis - Motor delay - Muscular hypotonia - Onion bulb formation - Pes cavus - Segmental peripheral demyelination/remyelination - Sensory ataxia - Steppage gait - Ulnar claw - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common.