umarjan11/Medical-qna huggingface dataset:
Question: What are the symptoms of Brachydactyly types B and E combined ?

Answer: What are the signs and symptoms of Brachydactyly types B and E combined? The Human Phenotype Ontology provides the following list of signs and symptoms for Brachydactyly types B and E combined. 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) Autosomal dominant inheritance - Brachydactyly syndrome - Broad distal phalanx of finger - Broad thumb - Concave nail - Short 4th finger - Short 4th metacarpal - Short 5th finger - Short 5th metacarpal - Short fifth metatarsal - Short thumb - 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) Brain and Spinal Tumors ?

Answer: Tumors of the brain and spinal cord are abnormal growths of tissue found inside the skull or the bony spinal column. The brain and spinal cord are the primary components of the central nervous system (CNS). Benign tumors are noncancerous, and malignant tumors are cancerous. The CNS is housed within rigid, bony quarters (i.e., the skull and spinal column), so any abnormal growth, whether benign or malignant, can place pressure on sensitive tissues and impair function. Tumors that originate in the brain or spinal cord are called primary tumors. Most primary tumors are caused by out-of-control growth among cells that surround and support neuron, specific genetic disease (such as neurofibromatosis type 1 and tuberous sclerosis), or from exposure to radiation or cancer-causing chemicals. Metastatic, or secondary, tumors in the CNS are caused by cancer cells that break away from a primary tumor located in another region of the body. Tumors can place pressure on sensitive tissues and impair function..Symptoms of brain tumors include headaches, seizures, nausea and vomiting, poor vision or hearing, changes in behavior, unclear thinking, and unsteadiness. Spinal cord tumor symptoms include pain, numbness, and paralysis. Diagnosis is made after a neurological examination, special imaging techniques (computed tomography, and magnetic resonance imaging, positron emission tomography), laboratory tests, and a biopsy (in which a sample of tissue is taken from a suspected tumor and examined).
Question: What are the genetic changes related to Noonan syndrome ?

Answer: Mutations in the PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes cause Noonan syndrome.  Most cases of Noonan syndrome result from mutations in one of three genes, PTPN11, SOS1, or RAF1. PTPN11 gene mutations account for approximately 50 percent of all cases of Noonan syndrome. SOS1 gene mutations account for 10 to 15 percent and RAF1 gene mutations account for 5 to 10 percent of Noonan syndrome cases. About 2 percent of people with Noonan syndrome have mutations in the KRAS gene and usually have a more severe or atypical form of the disorder. It is not known how many cases are caused by mutations in the BRAF or NRAS genes, but it is likely a very small proportion. The cause of Noonan syndrome in the remaining 20 percent of people with this disorder is unknown.  The PTPN11, SOS1, RAF1, KRAS, NRAS and BRAF genes all provide instructions for making proteins that are important in signaling pathways needed for the proper formation of several types of tissue during development. These proteins also play roles in cell division, cell movement, and cell differentiation (the process by which cells mature to carry out specific functions). Mutations in any of the genes listed above cause the resulting protein to be continuously active, rather than switching on and off in response to cell signals. This constant activation disrupts the regulation of systems that control cell growth and division, leading to the characteristic features of Noonan syndrome.
Question: What are the genetic changes related to mucopolysaccharidosis type III ?

Answer: Mutations in the GNS, HGSNAT, NAGLU, and SGSH genes cause MPS III. These genes provide instructions for making enzymes involved in the breakdown of large sugar molecules called glycosaminoglycans (GAGs). GAGs were originally called mucopolysaccharides, which is where this condition gets its name. The GNS, HGSNAT, NAGLU, and SGSH enzymes are involved in the step-wise breakdown of a subset of GAGs called heparan sulfate.  MPS IIIA is caused by mutations in the SGSH gene, and MPS IIIB is caused by NAGLU gene mutations. Mutations in the HGSNAT gene result in MPS IIIC, and GNS gene mutations cause MPS IIID. Mutations in these genes reduce or eliminate enzyme function. A lack of any one of these enzymes disrupts the breakdown of heparan sulfate. As a result, partially broken down heparan sulfate accumulates within cells, specifically inside the lysosomes. Lysosomes are compartments in the cell that digest and recycle different types of molecules. Conditions such as MPS III that cause molecules to build up inside the lysosomes are called lysosomal storage disorders. Researchers believe that the accumulation of GAGs interferes with the functions of other proteins inside the lysosomes and disrupts the normal functions of cells. It is unknown why the buildup of heparan sulfate mostly affects the central nervous system in MPS III.
Question: What causes Urinary Incontinence in Children ?

Answer: Daytime UI can be caused by a UTI or structural problems in the urinary tract. Daytime UI that is not associated with UTI or structural problems is less common and tends to disappear much earlier than nighttime UI. Overactive bladder and infrequent or incomplete voiding, or urination, are common causes of daytime UI.
                
Overactive Bladder
                
Overactive bladder is a condition in which a child experiences at least two of the following conditions:
                
- urinary urgencyinability to delay urination  - urge urinary incontinenceurinary leakage when the bladder contracts unexpectedly  - urinary frequencyurination eight or more times a day or more than twice at night
                
Infrequent or Incomplete Voiding
                
Infrequent voiding is when children voluntarily hold urine for prolonged periods of time. For example, children may not want to use the toilets at school or may not want to interrupt enjoyable activities, so they ignore the bodys signal of a full bladder. In these cases, the bladder can overfill and leak urine. In addition, these children often develop UTIs, leading to an irritated or overactive bladder.
                
Factors that may combine with infrequent voiding to produce daytime UI include
                
- small bladder capacity  - structural problems  - anxiety-causing events  - pressure from constipation  - drinks or foods that contain caffeine
                
Sometimes, overly demanding toilet training may make children unable to relax the sphincters enough to completely empty the bladder. Incomplete voiding may also lead to UTIs.
Question: How to prevent Viral Gastroenteritis ?

Answer: People can reduce their chances of getting or spreading viral gastroenteritis if they
                
- wash their hands thoroughly with soap and warm water for 20 seconds after using the bathroom or changing diapers and before eating or handling food  - disinfect contaminated surfaces such as countertops and baby changing tables with a mixture of 2 cups of household bleach and 1 gallon of water  - avoid foods and drinks that might be contaminated
                
The U.S. Food and Drug Administration has approved two vaccines to protect children from rotavirus infections: rotavirus vaccine, live, oral, pentavalent (RotaTeq); and rotavirus vaccine, live, oral (Rotarix). RotaTeq is given to infants in three doses at 2, 4, and 6 months of age. Rotarix is given in two doses. The first dose is given when the infant is 6 weeks old, and the second is given at least 4 weeks later but before the infant is 24 weeks old.
                
Parents of infants should discuss rotavirus vaccination with a health care provider. For more information, parents can visit the Centers for Disease Control and Prevention rotavirus vaccination webpage at www.cdc.gov/vaccines/vpd-vac/rotavirus.
                
In the past, rotavirus infections were most common from November to April in the United States. However, recently widespread vaccination slowed the transmission of the virus, delaying rotavirus activity until late February. Overall rates of infection have also been lower than in previous years.
Question: What are the treatments for Depression ?

Answer: Several studies are looking at ways to help older adults get better access to depression treatment. One is developing and testing an education and intervention program to help primary care clinics and providers identify and treat late-life depression. Another study found that depressed older adults who had a "care manager" monitor their symptoms, side effects, and progress got better more quickly -- and stayed better longer -- than those who did not have case-managed care. Still other projects are investigating ways of improving older adults engagement in and ability to follow treatment plans for depression. Researchers are also looking at ways to -  better understand the relationship between other medical illnesses and depression  - integrate treatment for depression with treatments for other medical conditions a person may have  - produce a quicker response to treatment  - develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies)  - help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression.  better understand the relationship between other medical illnesses and depression integrate treatment for depression with treatments for other medical conditions a person may have produce a quicker response to treatment develop new methods for delivering treatment to those who are homebound, unable to move around without assistance, or who live in rural areas. (e.g., via use of telephonic or internet-assisted therapies) help prevent depression by keeping it from developing or recurring in those at risk or by preventing those with milder symptoms from progressing to more severe episodes of depression.
Question: What causes Galactosialidosis ?

Answer: What causes galactosialidosis? Galactosialidosis is caused by mutations in the CTSA gene. The CTSA gene provides instructions for making a protein called cathepsin A, which is active in cellular compartments called lysosomes. These compartments contain enzymes that digest and recycle materials when they are no longer needed. Cathepsin A works together with two enzymes, neuraminidase 1 and beta-galactosidase, to form a protein complex. This complex breaks down sugar molecules (oligosaccharides) attached to certain proteins (glycoproteins) or fats (glycolipids). Cathepsin A is also found on the cell surface, where it forms a complex with neuraminidase 1 and a protein called elastin binding protein. Elastin binding protein plays a role in the formation of elastic fibers, a component of the connective tissues that form the body's supportive framework. CTSA mutations interfere with the normal function of cathepsin A. Most mutations disrupt the protein structure of cathepsin A, impairing its ability to form complexes with neuraminidase 1, beta-galactosidase, and elastin binding protein. As a result, these other enzymes are not functional, or they break down prematurely. Galactosialidosis belongs to a large family of lysosomal storage disorders, each caused by the deficiency of a specific lysosomal enzyme or protein. In galactosialidosis, impaired functioning of cathepsin A and other enzymes causes certain substances to accumulate in the lysosomes.
Question: What is (are) Adenocarcinoma of the appendix ?

Answer: Cancer of the appendix is very rare and is typically found incidentally during appendectomies, in about 1% of the cases. According to a report published by the National Cancer Institute, using the Surveillance, Epidemiology, and End Results (SEER) database, appendix cancer account for about 0.4% of gastrointestinal tumors. There are several subytpes. The most common is the carcinoid type (66% of the total), with cyst-adenocarcinoma accounting for 20% and adenocarcinoma accounting for 10%. Then there are the rare forms of cancers which include adenocarcinoid, signet ring, non-Hodgkins lymphoma, ganglioneuroma, and pheochromocytoma. Benign primary tumors are mainly mucinous epithelial neoplasms, also called adenomas, cystadenoma, and benign neoplastic mucocele. Adenocarcinoma of the appendix is a epithelial cancer of the appendix. The term 'epithelium' refers to cells that line hollow organs and glands and those that make up the outer surface of the body. Epithelial cells help to protect or enclose organs. Some produce mucus or other secretions. Types of adenocarcinoma of the appendix include mucinous adenocarcinoma, non-mucinous adenocarcinoma, and signet cell carcinoma of appendix (which is the rarer involving only 4% of all the subtypes of appendix cancer).
Question: What are the symptoms of Combined oxidative phosphorylation deficiency 16 ?

Answer: What are the signs and symptoms of Combined oxidative phosphorylation deficiency 16? The Human Phenotype Ontology provides the following list of signs and symptoms for Combined oxidative phosphorylation deficiency 16. 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) Autosomal recessive inheritance - Elevated hepatic transaminases - Hypertrophic cardiomyopathy - Increased serum lactate - Infantile onset - Microvesicular hepatic steatosis - 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.
Question: What are the symptoms of Osteopetrosis autosomal dominant type 1 ?

Answer: What are the signs and symptoms of Osteopetrosis autosomal dominant type 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteopetrosis autosomal dominant 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) Abnormality of pelvic girdle bone morphology - Abnormality of the vertebral column - Autosomal dominant inheritance - Conductive hearing impairment - Generalized osteosclerosis - Headache - Osteopetrosis - Thickened calvaria - 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 Ichthyosis hystrix, Curth Macklin type ?

Answer: What are the signs and symptoms of Ichthyosis hystrix, Curth Macklin type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis hystrix, Curth Macklin type. 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) Hyperkeratosis 90% Ichthyosis 90% Skin ulcer 90% Abnormality of the fingernails 50% Flexion contracture 50% Gangrene 7.5% Abnormality of metabolism/homeostasis - Autosomal dominant 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 Juvenile osteoporosis ?

Answer: What are the signs and symptoms of Juvenile osteoporosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Juvenile osteoporosis. 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) Bone pain 90% Recurrent fractures 90% Reduced bone mineral density 90% Gait disturbance 50% Kyphosis 7.5% Autosomal recessive inheritance - Low serum calcitriol (1,25-dihydroxycholecalciferol) - Osteoporosis - 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 Ectodermal dysplasia adrenal cyst ?

Answer: What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. 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 endocrine system - Autosomal dominant inheritance - Breast hypoplasia - Delayed eruption of teeth - Ectodermal dysplasia - Hypohidrosis - Hypoplastic nipples - Nail dysplasia - 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 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency ?

Answer: What are the signs and symptoms of Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase 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) Autosomal recessive inheritance - Congenital adrenal hyperplasia - Increased circulating ACTH level - 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.