umarjan11/Medical-qna huggingface dataset:
Question: Who is at risk for Pernicious Anemia? ?

Answer: Pernicious anemia is more common in people of Northern European and African descent than in other ethnic groups.
                
Older people also are at higher risk for the condition. This is mainly due to a lack of stomach acid and intrinsic factor, which prevents the small intestine from absorbing vitamin B12. As people grow older, they tend to make less stomach acid.
                
Pernicious anemia also can occur in younger people and other populations. You're at higher risk for pernicious anemia if you:
                
Have a family history of the condition.
                
Have had part or all of your stomach surgically removed. The stomach makes intrinsic factor. This protein helps your body absorb vitamin B12.
                
Have an autoimmune disorder that involves the endocrine glands, such as Addison's disease, type 1 diabetes, Graves' disease, or vitiligo. Research suggests a link may exist between these autoimmune disorders and pernicious anemia that's caused by an autoimmune response.
                
Have had part or all of your small intestine surgically removed. The small intestine is where vitamin B12 is absorbed.
                
Have certain intestinal diseases or other disorders that may prevent your body from properly absorbing vitamin B12. Examples include Crohn's disease, intestinal infections, and HIV.
                
Take medicines that prevent your body from properly absorbing vitamin B12. Examples of such medicines include antibiotics and certain seizure medicines.
                
Are a strict vegetarian who doesn't eat any animal or dairy products and doesn't take a vitamin B12 supplement, or if you eat poorly overall.
Question: What is (are) Alzheimer disease ?

Answer: Alzheimer disease is a degenerative disease of the brain that causes dementia, which is a gradual loss of memory, judgment, and ability to function. This disorder usually appears in people older than age 65, but less common forms of the disease appear earlier in adulthood.  Memory loss is the most common sign of Alzheimer disease. Forgetfulness may be subtle at first, but the loss of memory worsens over time until it interferes with most aspects of daily living. Even in familiar settings, a person with Alzheimer disease may get lost or become confused. Routine tasks such as preparing meals, doing laundry, and performing other household chores can be challenging. Additionally, it may become difficult to recognize people and name objects. Affected people increasingly require help with dressing, eating, and personal care.  As the disorder progresses, some people with Alzheimer disease experience personality and behavioral changes and have trouble interacting in a socially appropriate manner. Other common symptoms include agitation, restlessness, withdrawal, and loss of language skills. People with this disease usually require total care during the advanced stages of the disease. Affected individuals usually survive 8 to 10 years after the appearance of symptoms, but the course of the disease can range from 1 to 25 years. Death usually results from pneumonia, malnutrition, or general body wasting (inanition).  Alzheimer disease can be classified as early-onset or late-onset. The signs and symptoms of the early-onset form appear before age 65, while the late-onset form appears after age 65. The early-onset form is much less common than the late-onset form, accounting for less than 5 percent of all cases of Alzheimer disease.
Question: Is cutis laxa inherited ?

Answer: Cutis laxa can have an autosomal dominant, autosomal recessive, or X-linked recessive pattern of inheritance.  When cutis laxa is caused by ELN mutations, it has an autosomal dominant inheritance pattern. Autosomal dominant inheritance means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, cases of cutis laxa resulting from FBLN5 mutations can also have an autosomal dominant pattern of inheritance.  Researchers have described at least two forms of autosomal recessive cutis laxa. Type I results from mutations in the EFEMP2 or FBLN5 gene, while type II is caused by mutations in the ATP6V02 gene. Autosomal recessive inheritance means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.  Occipital horn syndrome has an X-linked recessive pattern of inheritance. It results from mutations in the ATP7A gene, which is located on the X chromosome. The X chromosome is one of the two sex chromosomes. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
Question: What are the genetic changes related to pulmonary arterial hypertension ?

Answer: Mutations in the BMPR2 gene are the most common genetic cause of pulmonary arterial hypertension. This gene plays a role in regulating the number of cells in certain tissues. Researchers suggest that a mutation in this gene promotes cell division or prevents cell death, resulting in an overgrowth of cells in small arteries throughout the lungs. As a result, these arteries narrow in diameter, which increases the resistance to blood flow. Blood pressure in the pulmonary artery and the right ventricle of the heart increases to overcome the increased resistance to blood flow.  Mutations in several additional genes have also been found to cause pulmonary arterial hypertension, but they are much less common causes of the disorder than are BMPR2 gene mutations. Variations in other genes may increase the risk of developing pulmonary arterial hypertension or modify the course of the disease (usually making it more severe). Changes in as-yet-unidentified genes may also be associated with this condition.  Although pulmonary arterial hypertension often occurs on its own, it can also be part of syndromes that affect many parts of the body. For example, this condition is occasionally found in people with systemic scleroderma, systemic lupus erythematosus, critical congenital heart disease, or Down syndrome.  Researchers have also identified nongenetic factors that increase the risk of developing pulmonary arterial hypertension. These include certain drugs used as appetite suppressants and several illegal drugs, such as cocaine and methamphetamine. Pulmonary arterial hypertension is also a rare complication of certain infectious diseases, including HIV and schistosomiasis.
Question: What are the genetic changes related to Netherton syndrome ?

Answer: Netherton syndrome is caused by mutations in the SPINK5 gene. This gene provides instructions for making a protein called LEKT1. LEKT1 is a type of serine peptidase inhibitor. Serine peptidase inhibitors control the activity of enzymes called serine peptidases, which break down other proteins. LEKT1 is found in the skin and in the thymus, which is a gland located behind the breastbone that plays an important role in the immune system by producing white blood cells called lymphocytes. LEKT1 controls the activity of certain serine peptidases in the outer layer of skin (the epidermis), especially the tough outer surface known as the stratum corneum, which provides a sturdy barrier between the body and its environment. Serine peptidase enzymes are involved in normal skin shedding by helping to break the connections between cells of the stratum corneum. LEKT1 is also involved in normal hair growth, the development of lymphocytes in the thymus, and the control of peptidases that trigger immune system function.  Mutations in the SPINK5 gene result in a LEKT1 protein that is unable to control serine peptidase activity. The lack of LEKT1 function allows the serine peptidases to be abnormally active and break down too many proteins in the stratum corneum. As a result, too much skin shedding takes place, and the stratum corneum is too thin and breaks down easily, resulting in the skin abnormalities that occur in Netherton syndrome. Loss of LEKT1 function also results in abnormal hair growth and immune dysfunction that leads to allergies, asthma, and eczema.
Question: What are the genetic changes related to Hennekam syndrome ?

Answer: Mutations in the CCBE1 or FAT4 gene can cause Hennekam syndrome.  The CCBE1 gene provides instructions for making a protein that is found in the lattice of proteins and other molecules outside the cell (extracellular matrix). The CCBE1 protein is involved in the maturation (differentiation) and movement (migration) of immature cells called lymphangioblasts that will eventually form the lining (epithelium) of lymphatic vessels.  The function of the protein produced from the FAT4 gene is largely unknown. Research shows that the FAT4 protein may be involved in determining the position of various components within cells (cell polarity).  CCBE1 gene mutations that cause Hennekam syndrome change the three-dimensional shape of the protein and severely decrease its function. The abnormal protein cannot play its role in the formation of the lymphatic vessel epithelium. The resulting malformation of lymphatic vessels leads to lymphangiectasia, lymphedema, and other features of Hennekam syndrome. Since the lymphatic system extends throughout the body, a disruption to the vessels can affect almost any organ. Altered lymphatic development before birth may change the balance of fluids and impair normal development, contributing to many of the other signs of Hennekam syndrome such as unusual facial features.  FAT4 gene mutations that cause Hennekam syndrome result in a FAT4 protein with decreased function. Reduced FAT4 protein activity seems to impair normal development of the lymphatic system, but the mechanism is unknown.  Together, mutations in the CCBE1 and FAT4 genes are responsible for approximately half of all Hennekam syndrome cases. The cause of the remaining cases is unknown.
Question: What are the treatments for Lung Cancer ?

Answer: There are many treatment options for lung cancer, mainly based on the extent of the disease. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the lung, and other factors. If tests show that you have cancer, you should talk with your doctor and make treatment decisions as soon as possible. Studies show that early treatment leads to better outcomes. Working With a Team of Specialists A team of specialists often treats people with cancer. The team will keep the primary doctor informed about the patient's progress. The team may include a medical oncologist who is a specialist in cancer treatment, a surgeon, a radiation oncologist who is a specialist in radiation therapy, a thoracic surgeon who is a specialist in operating on organs in the chest, including the lungs, and others. Before starting treatment, you may want another doctor to review the diagnosis and treatment plan. Some insurance companies require a second opinion. Others may pay for a second opinion if you request it. Clinical Trials for Lung Cancer Some lung cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. People with lung cancer who are interested in taking part in a clinical trial should talk with their doctor. The U.S. National Institutes of Health, through its National Library of Medicine and other Institutes, maintains a database of clinical trials at ClinicalTrials.gov. Click here to see a list of the current clinical trials on lung cancer. A separate window will open. Click the "x" in the upper right hand corner of the "Clinical Trials" window to return here.
Question: What causes VACTERL association ?

Answer: Is VACTERL association inherited, or does it have a genetic component? A specific, consistent, genetic abnormality has not been identified in individuals with VACTERL association. A very few sporadic cases of VACTERL association have been associated with mutations in FGF8, HOXD13, ZIC3, PTEN, FANCB, FOXF1, and TRAP1 genes and mitochondrial DNA. When a condition is defined as being an "association", it means that it is made up of a series of specific features which have been found to occur together more often than it would happen due to chance alone, but for which no specific cause has been determined (idiopathic). For indiviuals with VACTERL association, the risk for it to recur in either a sibling or a child is usually quoted as being around 1% (1 in 100). There are very few reports of recurrence of the VACTERL association in families in the literature. Researchers have stated that when dysmorphic features, growth abnormalities, and/or learning disability are present in addition to the features of VACTERL association, it may actually be due to a syndrome or chromosome abnormality; if this is the case, the recurrence risk for a family member would be the risk that is associated with that specific diagnosis. Genetic disorders which have features in common with VACTERL association include Feingold syndrome, CHARGE syndrome, Fanconi anemia, Townes-Brocks syndrome, and Pallister-Hall syndrome. It has also been recognized that there is a two to threefold increase in the incidence of multiple congenital malformations (with features that have overlapped with those of VACTERL association) in children of diabetic mothers.
Question: How to diagnose Cerebellar degeneration ?

Answer: How is cerebellar degeneration diagnosed? A diagnosis of cerebellar degeneration is often suspected when concerning signs and symptoms, such as a poorly coordinated gait (walk) and uncoordinated hand/finger movements, are present. For hereditary forms of cerebellar degeneration, genetic testing may be used to confirm the diagnosis. However, this is only an option if the disease-causing gene for that particular condition is known. In cerebellar degeneration caused by acquired (non-genetic and non-inherited) conditions or conditions with an unknown genetic cause, imaging studies such as computed tomography (CT scan) and/or magnetic resonance imaging (MRI scan) may be necessary to establish a diagnosis. A CT scan is an imaging method that uses x-rays to create pictures of cross-sections of the body, while an MRI scan uses powerful magnets and radio waves to create pictures of the brain and surrounding nerve tissues. Both of these imaging methods can be used to identify brain abnormalities found in people with cerebellar degeneration. Is genetic testing available for cerebellar degeneration? Genetic testing is only available for cerebellar degeneration that is caused by an inherited change (mutation) in a disease-causing gene. For example, genetic testing is available for many different genes known to cause spinocerebellar ataxia (SCA) which is one cause of inherited cerebellar degeneration. For more information on genetic testing for SCA, please click here. For many conditions known to cause cerebellar ataxia, the genetic cause is unknown or the condition is acquired (non-genetic and non-inherited). Genetic testing is not an option for people with these conditions.
Question: What are the symptoms of Anauxetic dysplasia ?

Answer: What are the signs and symptoms of Anauxetic dysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Anauxetic dysplasia. 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 - Brachydactyly syndrome - Cervical cord compression - Cervical subluxation - Delayed ossification of carpal bones - Flared metaphysis - Hypertelorism - Hypodontia - Hypoplastic ilia - Intellectual disability - J-shaped sella turcica - Platyspondyly - Rhizomelia - Short finger - Short neck - Short toe - Small epiphyses - 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 Dermatoleukodystrophy ?

Answer: What are the signs and symptoms of Dermatoleukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Dermatoleukodystrophy. 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) Cognitive impairment 90% Hyperkeratosis 90% Morphological abnormality of the central nervous system 90% Hyperreflexia 50% Abnormality of metabolism/homeostasis - Autosomal recessive inheritance - Large hands - Leukodystrophy - Long foot - Macrotia - Premature skin wrinkling - Progeroid facial appearance - Prominent nose - Thickened skin - 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 Syndactyly-polydactyly-earlobe syndrome ?

Answer: What are the signs and symptoms of Syndactyly-polydactyly-earlobe syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Syndactyly-polydactyly-earlobe 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) Anterior creases of earlobe 90% Postaxial hand polydactyly 50% 1-2 toe complete cutaneous syndactyly - Autosomal dominant inheritance - Bifid distal phalanx of toe - Broad toe - Preaxial foot polydactyly - Preaxial hand polydactyly - 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 causes Heart Disease in Women ?

Answer: Research suggests thatcoronary heart disease(CHD) begins with damage to the lining and inner layers of the coronary (heart) arteries. Several factors contribute to this damage. They include:
                
Smoking, including secondhand smoke
                
High amounts of certain fats andcholesterol in the blood
                
High blood pressure
                
High amounts of sugar in the blood due to insulin resistance or diabetes
                
Blood vessel inflammation
                
Plaque may begin to build up where the arteries are damaged. The buildup of plaque in the coronary arteries may start in childhood.
                
Over time, plaque can harden or rupture (break open). Hardened plaque narrows the coronary arteries and reduces the flow of oxygen-rich blood to the heart. This can cause chest pain or discomfort calledangina.
                
If the plaque ruptures, blood cell fragments called platelets (PLATE-lets) stick to the site of the injury. They may clump together to form blood clots.
                
Blood clots can further narrow the coronary arteries and worsenangina. If a clot becomes large enough, it can mostly or completely block a coronary artery and cause a heart attack.
                
In addition to the factors above, low estrogen levels before or after menopause may play a role in causingcoronary microvascular disease(MVD). Coronary MVD is heart disease that affects the heart's tiny arteries.
                
The cause of broken heart syndrome isn't yet known. However, a sudden release of stress hormones may play a role in causing the disorder. Most cases of broken heart syndrome occur in women who have gone through menopause.