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

Answer: What are the signs and symptoms of Osteomesopyknosis? Osteomesopyknosis may cause chronic, low-grade back pain in the thoracic (middle) and lumbar (lower) regions. It is considered a mild form of osteosclerosis and is usually found in young adults or teenagers. Height and intellect are not affected. Life expectancy in affected people is normal. There are cases of association with other findings such as ovarian sclerosis and lymphoma; however, it is uncertain whether they have been coincidental or features of the disorder. The Human Phenotype Ontology provides the following list of signs and symptoms for Osteomesopyknosis. 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) Increased bone mineral density 90% Abnormal form of the vertebral bodies 50% Kyphosis 50% Scoliosis 50% Abnormal cortical bone morphology 7.5% Abnormality of metabolism/homeostasis 7.5% Autosomal dominant inheritance - Infertility - Low back pain - 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 Ceroid lipofuscinosis neuronal 1 ?

Answer: What are the signs and symptoms of Ceroid lipofuscinosis neuronal 1? The Human Phenotype Ontology provides the following list of signs and symptoms for Ceroid lipofuscinosis neuronal 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 metabolism/homeostasis - Ataxia - Autosomal recessive inheritance - Blindness - Cerebral atrophy - Decreased light- and dark-adapted electroretinogram amplitude - Depression - EEG abnormality - Flexion contracture - Hallucinations - Increased neuronal autofluorescent lipopigment - Intellectual disability - Irritability - Loss of speech - Macular degeneration - Muscular hypotonia - Myoclonus - Onset - Optic atrophy - Postnatal microcephaly - Progressive microcephaly - Progressive visual loss - Psychomotor deterioration - Retinal degeneration - Seizures - Sleep disturbance - Spasticity - Undetectable electroretinogram - 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 Neuronal ceroid lipofuscinosis 10 ?

Answer: What are the signs and symptoms of Neuronal ceroid lipofuscinosis 10 ? The Human Phenotype Ontology provides the following list of signs and symptoms for Neuronal ceroid lipofuscinosis 10 . 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) Microcephaly 90% Respiratory insufficiency 90% Seizures 90% Abnormality of metabolism/homeostasis - Apnea - Ataxia - Autosomal recessive inheritance - Cerebellar atrophy - Cerebral atrophy - Congenital onset - Increased neuronal autofluorescent lipopigment - Intellectual disability, progressive - Intellectual disability, severe - Low-set ears - Neuronal loss in central nervous system - Premature closure of fontanelles - Respiratory failure - Retinal atrophy - Rigidity - Rod-cone dystrophy - Sloping forehead - Spasticity - Status epilepticus - Visual loss - 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: Who is at risk for Anemia? ?

Answer: Anemia is a common condition. It occurs in all age, racial, and ethnic groups. Both men and women can have anemia. However, women of childbearing age are at higher risk for the condition because of blood loss from menstruation.
                
Anemia can develop during pregnancy due to low levels of iron and folic acid (folate) and changes in the blood. During the first 6 months of pregnancy, the fluid portion of a woman's blood (the plasma) increases faster than the number of red blood cells. This dilutes the blood and can lead to anemia.
                
During the first year of life, some babies are at risk for anemia because of iron deficiency. At-risk infants include those who are born too early and infants who are fed breast milk only or formula that isn't fortified with iron. These infants can develop iron deficiency by 6 months of age.
                
Infants between 1 and 2 years of age also are at risk for anemia. They may not get enough iron in their diets, especially if they drink a lot of cow's milk. Cow's milk is low in the iron needed for growth.
                
Drinking too much cow's milk may keep an infant or toddler from eating enough iron-rich foods or absorbing enough iron from foods.
                
Older adults also are at increased risk for anemia. Researchers continue to study how the condition affects older adults. Many of these people have other medical conditions as well.
                
Major Risk Factors
                
Factors that raise your risk for anemia include:
                
A diet that is low in iron, vitamins, or minerals
                
Blood loss from surgery or an injury
                
Long-term or serious illnesses, such as kidney disease, cancer, diabetes, rheumatoid arthritis, HIV/AIDS, inflammatory bowel disease (including Crohn's disease), liver disease, heart failure, and thyroid disease
                
Long-term infections
                
A family history of inherited anemia, such as sickle cell anemia or thalassemia
Question: What are the symptoms of Pericarditis ?

Answer: The most common sign of acute pericarditis is sharp, stabbing chest pain. The pain usually comes on quickly. It often is felt in the middle or left side of the chest or over the front of the chest. You also may feel pain in one or both shoulders, the neck, back, and abdomen.
                
The pain tends to ease when you sit up and lean forward. Lying down and deep breathing worsens it. For some people, the pain feels like a dull ache or pressure in the chest.
                
The chest pain also may feel like pain from a heart attack. If you have chest pain, you should call 911 right away, as you may be having a heart attack.
                
Some people with acute pericarditis develop a fever. Other symptoms are weakness, palpitations, trouble breathing, and coughing. (Palpitations are feelings that your heart is skipping a beat, fluttering, or beating too hard or too fast.)
                
The most common symptom of chronic pericarditis is chest pain. Chronic pericarditis also often causes tiredness, coughing, and shortness of breath. Severe cases of chronic pericarditis can lead to swelling in the stomach and legs and hypotension (low blood pressure).
                
Complications of Pericarditis
                
Two serious complications of pericarditis are cardiac tamponade (tam-po-NAD) and chronic constrictive pericarditis.
                
Cardiac tamponade occurs if too much fluid collects in the pericardium (the sac around the heart). The extra fluid puts pressure on the heart. This prevents the heart from properly filling with blood. As a result, less blood leaves the heart, which causes a sharp drop in blood pressure. If left untreated, cardiac tamponade can be fatal.
                
Chronic constrictive pericarditis is a rare disease that develops over time. It leads to scar-like tissue forming throughout the pericardium. The sac becomes stiff and can't move properly. In time, the scarred tissue compresses the heart and prevents it from working well.
Question: What is (are) isolated growth hormone deficiency ?

Answer: Isolated growth hormone deficiency is a condition caused by a severe shortage or absence of growth hormone. Growth hormone is a protein that is necessary for the normal growth of the body's bones and tissues. Because they do not have enough of this hormone, people with isolated growth hormone deficiency commonly experience a failure to grow at the expected rate and have unusually short stature. This condition is usually apparent by early childhood.  There are four types of isolated growth hormone deficiency differentiated by the severity of the condition, the gene involved, and the inheritance pattern.  Isolated growth hormone deficiency type IA is caused by an absence of growth hormone and is the most severe of all the types. In people with type IA, growth failure is evident in infancy as affected babies are shorter than normal at birth.  People with isolated growth hormone deficiency type IB produce very low levels of growth hormone. As a result, type IB is characterized by short stature, but this growth failure is typically not as severe as in type IA. Growth failure in people with type IB is usually apparent in early to mid-childhood.  Individuals with isolated growth hormone deficiency type II have very low levels of growth hormone and short stature that varies in severity. Growth failure in these individuals is usually evident in early to mid-childhood. It is estimated that nearly half of the individuals with type II have underdevelopment of the pituitary gland (pituitary hypoplasia). The pituitary gland is located at the base of the brain and produces many hormones, including growth hormone.  Isolated growth hormone deficiency type III is similar to type II in that affected individuals have very low levels of growth hormone and short stature that varies in severity. Growth failure in type III is usually evident in early to mid-childhood. People with type III may also have a weakened immune system and are prone to frequent infections. They produce very few B cells, which are specialized white blood cells that help protect the body against infection (agammaglobulinemia).
Question: What are the genetic changes related to Walker-Warburg syndrome ?

Answer: Walker-Warburg syndrome can be caused by mutations in one of several genes, including POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE. The proteins produced from these genes modify another protein called alpha ()-dystroglycan; this modification, called glycosylation, is required for -dystroglycan to function. The -dystroglycan protein helps anchor the structural framework inside each cell (cytoskeleton) to the lattice of proteins and other molecules outside the cell (extracellular matrix). In skeletal muscles, the anchoring function of -dystroglycan helps stabilize and protect muscle fibers. In the brain, it helps direct the movement (migration) of nerve cells (neurons) during early development.  Mutations in these genes prevent glycosylation of -dystroglycan, which disrupts its normal function. Without functional -dystroglycan to stabilize muscle cells, muscle fibers become damaged as they repeatedly contract and relax with use. The damaged fibers weaken and die over time, leading to progressive weakness of the skeletal muscles.  Defective -dystroglycan also affects the migration of neurons during the early development of the brain. Instead of stopping when they reach their intended destinations, some neurons migrate past the surface of the brain into the fluid-filled space that surrounds it. Researchers believe that this problem with neuronal migration causes cobblestone lissencephaly in children with Walker-Warburg syndrome. Less is known about the effects of the gene mutations in other parts of the body, including the eyes.  Mutations in the POMT1, POMT2, ISPD, FKTN, FKRP, and LARGE genes are found in only about half of individuals with Walker-Warburg syndrome. Other genes, some of which have not been identified, are likely involved in the development of this condition.  Because Walker-Warburg syndrome involves a malfunction of -dystroglycan, this condition is classified as a dystroglycanopathy.
Question: What are the genetic changes related to permanent neonatal diabetes mellitus ?

Answer: Permanent neonatal diabetes mellitus may be caused by mutations in several genes.  About 30 percent of individuals with permanent neonatal diabetes mellitus have mutations in the KCNJ11 gene. An additional 20 percent of people with permanent neonatal diabetes mellitus have mutations in the ABCC8 gene. These genes provide instructions for making parts (subunits) of the ATP-sensitive potassium (K-ATP) channel. Each K-ATP channel consists of eight subunits, four produced from the KCNJ11 gene and four from the ABCC8 gene.  K-ATP channels are found across cell membranes in the insulin-secreting beta cells of the pancreas. These channels open and close in response to the amount of glucose in the bloodstream. Closure of the channels in response to increased glucose triggers the release of insulin out of beta cells and into the bloodstream, which helps control blood sugar levels.  Mutations in the KCNJ11 or ABCC8 gene that cause permanent neonatal diabetes mellitus result in K-ATP channels that do not close, leading to reduced insulin secretion from beta cells and impaired blood sugar control.  Mutations in the INS gene, which provides instructions for making insulin, have been identified in about 20 percent of individuals with permanent neonatal diabetes mellitus. Insulin is produced in a precursor form called proinsulin, which consists of a single chain of protein building blocks (amino acids). The proinsulin chain is cut (cleaved) to form individual pieces called the A and B chains, which are joined together by connections called disulfide bonds to form insulin. Mutations in the INS gene are believed to disrupt the cleavage of the proinsulin chain or the binding of the A and B chains to form insulin, leading to impaired blood sugar control.  Permanent neonatal diabetes mellitus can also be caused by mutations in other genes, some of which have not been identified.
Question: What to do for Solitary Kidney ?

Answer: People with a solitary kidney do not need to eat a special diet. However, people with reduced kidney function may need to make changes to their diet to slow the progression of kidney disease. More information about recommended dietary changes is provided in the NIDDK health topics, Nutrition for Early Chronic Kidney Disease in Adults and Nutrition for Advanced Chronic Kidney Disease in Adults, and on the National Kidney Disease Education Program website. People should talk with their health care provider about what diet is right for them.
                
Controlling Blood Pressure
                
People can control their blood pressure by not smoking, eating a healthy diet, and taking certain medications. Medications that lower blood pressure can also significantly slow the progression of kidney disease. Two types of blood pressurelowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or ARB, a diuretica medication that helps the kidneys remove fluid from the bloodmay be prescribed. Beta-blockers, calcium channel blockers, and other blood pressure medications may also be needed.
                
Preventing Injury
                
For people with a solitary kidney, loss of the remaining working kidney results in the need for dialysis or kidney transplant. People should make sure their health care providers know they have a solitary kidney to prevent injury from medications or medical procedures. People who participate in certain sports may be more likely to injure the kidney; this risk is of particular concern with children, as they are more likely to play sports. The American Academy of Pediatrics recommends individual assessment for contact, collision, and limited-contact sports. Protective equipment may reduce the chance of injury to the remaining kidney enough to allow participation in most sports, provided that such equipment remains in place during activity. Health care providers, parents, and patients should consider the risks of any activity and decide whether the benefits outweigh those risks.
Question: what research (or clinical trials) is being done for National Hormone and Pituitary Program (NHPP): Information for People Treated with Pituitary Human Growth Hormone (Comprehensive Report) ?

Answer: Although CJD is a rare disorder, some of the world's leading researchers are working hard to learn more about this disease.
                
About 10 percent of the people who get CJD have the inherited type. Some people have gotten CJD from medical procedures such as pituitary hGH injections, tissue grafts, or corneal transplants. Scientists don't fully understand what causes CJD. Evidence suggests that a unique infectious agent called a prion [PREE-on] may be the cause. A prion is an unusual infectious agent because it contains no genetic material. It is a protein that takes on different forms. In its normal, harmless form, the protein is curled into a spiral. In its infectious form, the protein folds into an abnormal shape. Somehow, these abnormal proteins change the shape of normal proteins. This change begins a serious chain reaction that results in brain problems.
                
People with inherited CJD have an abnormal gene that leads to changes in their prion protein. This gene makes the protein likely to assume the abnormal shape. Exposure to the abnormal form of the protein can also occur through injection of contaminated pituitary hGH, tissue grafts, and corneal transplants and through exposures to infected brain tissue.
                
If CJD results from a defect in protein folding, it may be possible to identify drugs that can help the prion protein assume its proper shape. Such drugs would slow or stop the progress of the disease. Treatments like these are being studied by researchers. Researchers in both Europe and the United States are also trying to develop a test that will identify CJD before symptoms appear.
                
More information and medical journal articles about CJD and growth hormone therapy can be found on the National Endocrine and Metabolic Diseases Information Service web page Human Growth Hormone and Creutzfeldt-Jakob Disease Resource List.
Question: What are the symptoms of Kuster Majewski Hammerstein syndrome ?

Answer: What are the signs and symptoms of Kuster Majewski Hammerstein syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kuster Majewski Hammerstein 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 retinal pigmentation 90% Abnormality of the macula 90% Retinopathy 90% Split hand 90% Aplasia/Hypoplasia of the eyebrow 50% Carious teeth 50% Finger syndactyly 50% Microdontia 50% Reduced number of teeth 50% Strabismus 7.5% Autosomal recessive inheritance - Camptodactyly - Ectodermal dysplasia - Joint contracture of the hand - Macular dystrophy - Selective tooth agenesis - Sparse eyebrow - Sparse eyelashes - Sparse scalp hair - Syndactyly - Widely spaced teeth - 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.