umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Bronchiectasis ?

Answer: The initial airway damage that leads to bronchiectasis often begins in childhood. However, signs and symptoms may not appear until months or even years after you start having repeated lung infections.
                
The most common signs and symptoms of bronchiectasis are:
                
A daily cough that occurs over months or years
                
Daily production of large amounts of sputum (spit). Sputum, which you cough up and spit out, may contain mucus (a slimy substance), trapped particles, and pus.
                
Shortness of breath and wheezing (a whistling sound when you breathe)
                
Chest pain
                
Clubbing (the flesh under your fingernails and toenails gets thicker)
                
If your doctor listens to your lungs with a stethoscope, he or she may hear abnormal lung sounds.
                
Over time, you may have more serious symptoms. You may cough up blood or bloody mucus and feel very tired. Children may lose weight or not grow at a normal rate.
                
Complications of Bronchiectasis
                
Severe bronchiectasis can lead to other serious health conditions, such as respiratory failure and atelectasis.
                
Respiratory failure is a condition in which not enough oxygen passes from your lungs into your blood. The condition also can occur if your lungs can't properly remove carbon dioxide (a waste gas) from your blood.
                
Respiratory failure can cause shortness of breath, rapid breathing, and air hunger (feeling like you can't breathe in enough air). In severe cases, signs and symptoms may include a bluish color on your skin, lips, and fingernails; confusion; and sleepiness.
                
Atelectasis is a condition in which one or more areas of your lungs collapse or don't inflate properly. As a result, you may feel short of breath. Your heart rate and breathing rate may increase, and your skin and lips may turn blue.
                
If bronchiectasis is so advanced that it affects all parts of your airways, it may cause heart failure. Heart failure is a condition in which the heart can't pump enough blood to meet the body's needs.
                
The most common signs and symptoms of heart failure are shortness of breath or trouble breathing, tiredness, and swelling in the ankles, feet, legs, abdomen, and veins in the neck.
Question: What are the symptoms of Miller syndrome ?

Answer: What are the signs and symptoms of Miller syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Miller 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 dermatoglyphics 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the radius 90% Cleft eyelid 90% Hypoplasia of the zygomatic bone 90% Low-set, posteriorly rotated ears 90% Supernumerary nipple 90% Camptodactyly of finger 50% Conductive hearing impairment 50% Finger syndactyly 50% Non-midline cleft lip 50% Strabismus 7.5% Abnormality of the foot - Abnormality of the kidney - Autosomal recessive inheritance - Choanal atresia - Cleft palate - Cleft upper lip - Congenital hip dislocation - Conical tooth - Cryptorchidism - Cupped ear - Ectropion - Hypoplasia of the radius - Hypoplasia of the ulna - Low-set ears - Malar flattening - Micropenis - Midgut malrotation - Pectus excavatum - Postnatal growth retardation - Pyloric stenosis - Radioulnar synostosis - Short thumb - Supernumerary vertebrae - Syndactyly - 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) MYH9-related disorder ?

Answer: MYH9-related disorder is a condition that can have many signs and symptoms, including bleeding problems, hearing loss, kidney (renal) disease, and clouding of the lens of the eyes (cataracts).  The bleeding problems in people with MYH9-related disorder are due to thrombocytopenia. Thrombocytopenia is a reduced level of circulating platelets, which are cell fragments that normally assist with blood clotting. People with MYH9-related disorder typically experience easy bruising, and affected women have excessive bleeding during menstruation (menorrhagia). The platelets in people with MYH9-related disorder are larger than normal. These enlarged platelets have difficulty moving into tiny blood vessels like capillaries. As a result, the platelet level is even lower in these small vessels, further impairing clotting.  Some people with MYH9-related disorder develop hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). Hearing loss may be present from birth or can develop anytime into late adulthood.  An estimated 30 to 70 percent of people with MYH9-related disorder develop renal disease, usually beginning in early adulthood. The first sign of renal disease in MYH9-related disorder is typically protein or blood in the urine. Renal disease in these individuals particularly affects structures called glomeruli, which are clusters of tiny blood vessels that help filter waste products from the blood. The resulting damage to the kidneys can lead to kidney failure and end-stage renal disease (ESRD).  Some affected individuals develop cataracts in early adulthood that worsen over time.  Not everyone with MYH9-related disorder has all of the major features. All individuals with MYH9-related disorder have thrombocytopenia and enlarged platelets. Most commonly, affected individuals will also have hearing loss and renal disease. Cataracts are the least common sign of this disorder.  MYH9-related disorder was previously thought to be four separate disorders: May-Hegglin anomaly, Epstein syndrome, Fechtner syndrome, and Sebastian syndrome. All of these disorders involved thrombocytopenia and enlarged platelets and were distinguished by some combination of hearing loss, renal disease, and cataracts. When it was discovered that these four conditions all had the same genetic cause, they were combined and renamed MYH9-related disorder.
Question: What are the genetic changes related to cytogenetically normal acute myeloid leukemia ?

Answer: CN-AML is classified as "cytogenetically normal" based on the type of genetic changes involved in its development. Cytogenetically normal refers to the fact that this form of acute myeloid leukemia is not associated with large chromosomal abnormalities. About half of people with acute myeloid leukemia have this form of the condition; the other half have genetic changes that alter large regions of certain chromosomes. These changes can be identified by a test known as cytogenetic analysis. CN-AML is associated with smaller genetic changes that cannot be seen by cytogenetic analysis.  Mutations in a large number of genes have been found in people with CN-AML; the most commonly affected genes are NPM1, FLT3, DNMT3A, CEBPA, IDH1, and IDH2. The proteins produced from these genes have different functions in the cell. Most are involved in regulating processes such as the growth and division (proliferation), maturation (differentiation), or survival of cells. For example, the protein produced from the FLT3 gene stimulates the proliferation and survival of cells. The proteins produced from the CEBPA and DNMT3A genes regulate gene activity and help to control when cells divide and how they mature. The NPM1 gene provides instructions for a protein that is likely involved in the regulation of cell growth and division. Mutations in any of these genes can disrupt one or more of these processes in hematopoietic stem cells and lead to overproduction of abnormal, immature white blood cells, which is characteristic of CN-AML. Although the proteins produced from two other genes involved in CN-AML, IDH1 and IDH2, are not normally involved in proliferation, differentiation, or survival of cells, mutations in these genes lead to the production of proteins with a new function. These changes result in impaired differentiation of hematopoietic stem cells, which leads to CN-AML.  CN-AML is a complex condition influenced by several genetic and environmental factors. Typically, mutations in more than one gene are involved. For example, people with an NPM1 gene mutation frequently also have a mutation in the FLT3 gene, both of which are likely involved in the cancer's development. In addition, environmental factors such as smoking or exposure to radiation increase an individual's risk of developing acute myeloid leukemia.
Question: What are the treatments for Hypoplastic left heart syndrome ?

Answer: How might hypoplastic left heart syndrome (HLHS) be treated? Once the diagnosis of HLHS is made, the baby will be admitted to the neonatal intensive care unit. A breathing machine (ventilator) may be needed to help the baby breathe. A medicine called prostaglandin E1 is used to keep blood circulating to the body by keeping the ductus arteriosus open. These measures do not solve the problem and ultimately, the baby will require surgery. The first surgery, called the Norwood operation, occurs within the baby's first few days of life. Stage I of the Norwood procedure consists of building a new aorta by: Using the pulmonary valve and artery Connecting the hypoplastic old aorta and coronary arteries to the new aorta Removing the wall between the atria (atrial septum) Making an artificial connection from either the right ventricle or a body-wide artery to the pulmonary artery to maintain blood flow to the lungs (called a shunt) Afterwards, the baby usually goes home. The child will need to take daily medicines and be closely followed by a pediatric cardiologist, who will determine when the second stage of surgery should be done. Stage II of the operation is called the Glenn shunt or hemi-Fontan procedure. This procedure connects the major vein carrying blue blood from the top half of the body (the superior vena cava) directly to blood vessels to the lungs (pulmonary arteries) to get oxygen. The surgery is usually done when the child is 4 to 6 months of age. During stages I and II, the child may still appear somewhat blue (cyanotic).Stage III, the final step, is called the Fontan procedure. The rest of the veins that carry blue blood from the body (the inferior vena cava) are connected directly to the blood vessels to the lungs. The right ventricle now serves only as the pumping chamber for the body (no longer the lungs and the body). This surgery is usually performed when the baby is 18 months - 3 years old. After this final step, the baby is no longer blue. Some patients may need more surgeries in their 20s or 30s if they develop hard to control arrhythmias or other complications of the Fontan procedure. In some hospitals, heart transplantation is considered a better choice than the three-step surgery process. However, there are few donated hearts available for small infants.
Question: What are the symptoms of Revesz syndrome ?

Answer: What are the signs and symptoms of Revesz syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Revesz 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 neutrophils 90% Abnormality of the nail 90% Abnormality of the oral cavity 90% Abnormality of the retinal vasculature 90% Anemia 90% Aplasia/Hypoplasia of the cerebellum 90% Fine hair 90% Intrauterine growth retardation 90% Microcephaly 90% Premature birth 90% Retinal detachment 90% Subcutaneous hemorrhage 90% Thrombocytopenia 90% Abnormality of metabolism/homeostasis - Aplastic anemia - Ataxia - Autosomal dominant inheritance - Bone marrow hypocellularity - Cerebellar hypoplasia - Cerebral calcification - Exudative retinopathy - Fine, reticulate skin pigmentation - Hypertonia - Leukocoria - Megalocornea - Nail dystrophy - Nail pits - Nystagmus - Oral leukoplakia - Progressive neurologic deterioration - Ridged fingernail - Sparse hair - Sporadic - 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 Faciocardiorenal syndrome ?

Answer: What are the signs and symptoms of Faciocardiorenal syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Faciocardiorenal 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 localization of kidney 90% Abnormality of the philtrum 90% Abnormality of the pinna 90% Cleft palate 90% Cognitive impairment 90% Hypertelorism 90% Hypoplasia of the zygomatic bone 90% Plagiocephaly 90% Reduced number of teeth 90% Underdeveloped nasal alae 90% Wide nasal bridge 90% Abnormality of the endocardium 50% Abnormality of the tricuspid valve 7.5% Narrow mouth 7.5% Autosomal recessive inheritance - Broad hallux - Cryptorchidism - Decreased muscle mass - Endocardial fibroelastosis - Horseshoe kidney - Hydroureter - Hypodontia - Hypoplastic philtrum - Inguinal hernia - Intellectual disability, progressive - Intellectual disability, severe - Malar flattening - Microtia - Nevus - Scoliosis - Small nail - Toe syndactyly - Waddling gait - 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 Barraquer-Simons syndrome ?

Answer: What are the signs and symptoms of Barraquer-Simons syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Barraquer-Simons 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) Lipoatrophy 90% Abnormality of complement system 50% Autoimmunity 50% Cognitive impairment 50% Glomerulopathy 50% Hearing impairment 50% Hematuria 50% Lymphocytosis 50% Myopathy 50% Prematurely aged appearance 50% Proteinuria 50% Seizures 50% Arthralgia 7.5% Hepatic steatosis 7.5% Hypertrichosis 7.5% Insulin resistance 7.5% Abnormality of lipid metabolism - Autosomal dominant inheritance - Decreased serum complement C3 - Diabetes mellitus - Hirsutism - Juvenile onset - Loss of subcutaneous adipose tissue from upper limbs - Loss of truncal subcutaneous adipose tissue - Membranoproliferative glomerulonephritis - Nephrotic syndrome - Phenotypic variability - Polycystic ovaries - Progressive loss of facial adipose tissue - Recurrent infections - Sporadic - 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 Pneumonia ?

Answer: The signs and symptoms of pneumonia vary from mild to severe. Many factors affect how serious pneumonia is, including the type of germ causing the infection and your age and overall health. (For more information, go to "Who Is at Risk for Pneumonia?")
                
See your doctor promptly if you:
                
Have a high fever
                
Have shaking chills
                
Have a cough with phlegm (a slimy substance), which doesn't improve or worsens
                
Develop shortness of breath with normal daily activities
                
Have chest pain when you breathe or cough
                
Feel suddenly worse after a cold or the flu
                
People who have pneumonia may have other symptoms, including nausea (feeling sick to the stomach), vomiting, and diarrhea.
                
Symptoms may vary in certain populations. Newborns and infants may not show any signs of the infection. Or, they may vomit, have a fever and cough, or appear restless, sick, or tired and without energy.
                
Older adults and people who have serious illnesses or weak immune systems may have fewer and milder symptoms. They may even have a lower than normal temperature. If they already have a lung disease, it may get worse. Older adults who have pneumonia sometimes have sudden changes in mental awareness.
                
Complications of Pneumonia
                
Often, people who have pneumonia can be successfully treated and not have complications. But some people, especially those in high-risk groups, may have complications such as:
                
Bacteremia (bak-ter-E-me-ah). This serious complication occurs if the infection moves into your bloodstream. From there, it can quickly spread to other organs, including your brain.
                
Lung abscesses. An abscess occurs if pus forms in a cavity in the lung. An abscess usually is treated with antibiotics. Sometimes surgery or drainage with a needle is needed to remove the pus.
                
Pleural effusion. Pneumonia may cause fluid to build up in the pleural space. This is a very thin space between two layers of tissue that line the lungs and the chest cavity. Pneumonia can cause the fluid to become infecteda condition called empyema (em-pi-E-ma). If this happens, you may need to have the fluid drained through a chest tube or removed with surgery.
Question: What causes Sickle Cell Disease ?

Answer: Abnormal hemoglobin, called hemoglobin S, causes sickle cell disease (SCD).
                
The problem in hemoglobin S is caused by a small defect in the gene that directs the production of the beta globin part of hemoglobin. This small defect in the beta globin gene causes a problem in the beta globin part of hemoglobin, changing the way that hemoglobin works. (See Overview.)
                

                
How Is Sickle Cell Disease Inherited?
                
When the hemoglobin S gene is inherited from only one parent and a normal hemoglobin gene is inherited from the other, a person will have sickle cell trait. People with sickle cell trait are generally healthy.
                
Only rarely do people with sickle cell trait have complications similar to those seen in people with SCD. But people with sickle cell trait are carriers of a defective hemoglobin S gene. So, they can pass it on when they have a child.
                
If the childs other parent also has sickle cell trait or another abnormal hemoglobin gene (like thalassemia, hemoglobin C, hemoglobin D, hemoglobin E), that child has a chance of having SCD.
                
Example of an Inheritance Pattern
                

                
In the image above, each parent has one hemoglobin A gene and one hemoglobin S gene, and each of their children has:
                
A 25 percent chance of inheriting two normal genes: In this case the child does not have sickle cell trait or disease. (Case 1)
                
A 50 percent chance of inheriting one hemoglobin A gene and one hemoglobin S gene: This child has sickle cell trait. (Cases 2 and 3)
                
A 25 percent chance of inheriting two hemoglobin S genes: This child has sickle cell disease. (Case 4)
                
It is important to keep in mind that each time this couple has a child, the chances of that child having sickle cell disease remain the same. In other words, if the first-born child has sickle cell disease, there is still a 25 percent chance that the second child will also have the disease. Both boys and girls can inherit sickle cell trait, sickle cell disease, or normal hemoglobin.
                
If a person wants to know if he or she carries a sickle hemoglobin gene, a doctor can order a blood test to find out.