umarjan11/Medical-qna huggingface dataset:
Question: Is Alpha-thalassemia inherited ?

Answer: How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. Therefore, there are 4 alleles that produce alpha-globin, the protein that results from these genes. For each of the 2 genes, one allele is inherited from a person's father, and the other is inherited from a person's mother - so each person inherits 2 alleles from each parent. The different types of alpha-thalassemia result from the loss of some or all of these alleles. If both parents are missing at least one alpha-globin allele, each of their children are at risk of having Hb Bart syndrome or hydrops fetalis, hemoglobin H (HbH) disease, or alpha-thalassemia trait. The precise risk depends on how many alleles are missing and which combination of the HBA1 and HBA2 genes is affected. In most cases: a person with 1 mutated allele is a carrier and has no signs or symptoms a person with 2 mutated alleles may have mild signs or symptoms of alpha-thalassemia (called alpha-thalassemia minor, or alpha-thalassemia trait) a person with 3 mutated alleles has moderate to severe symptoms (called HbH disease) When there are 4 mutated alleles, the condition is called alpha-thalassemia major or hydrops fetalis. In these cases, an affected fetus usually does not survive to birth, or an affected newborn does not survive long after birth.
Question: What are the treatments for Dihydrolipoamide dehydrogenase deficiency ?

Answer: How might dihydrolipoamide dehydrogenase deficiency be treated? There are currently no consensus recommendations for the management of dihydrolipoamide dehydrogenase (DLD) deficiency. Management can be hard because various metabolic pathways are affected and 3 enzyme complexes are involved. Deficiencies in enzyme pathways vary depending on the specific mutation(s) each affected person has. Unfortunately, the treatments that have been attempted in children with the early-onset neurologic form do not appear to significantly alter the course of the disease. Even with treatment, children often do not survive infancy or have varying degrees of chronic neurologic impairment if they survive the initial episode. Depending on individual enzyme complex deficiencies, treatment may involve certain dietary restrictions or certain diets; use of medical foods; and/or supplementation of specific amino acids or other substances. There is limited data for the chronic management of people with the primarily hepatic (liver-related) form of the disease. Management typically involves supportive therapy during times of acute liver injury or failure, and may include nutritional support; IV glucose for hypoglycemia; correction of metabolic acidosis; correction of coagulopathy; and avoidance of liver-toxic medications. More detailed information about the management of DLD deficiency can be viewed on the GeneReviews Web site. GeneReviews is intended for use by genetics professionals. Those not familiar with the principles discussed on the GeneReviews Web site are encouraged to speak with a genetics professional or other healthcare provider regarding information of interest.
Question: What are the genetic changes related to familial hypobetalipoproteinemia ?

Answer: Most cases of FHBL are caused by mutations in the APOB gene. This gene provides instructions for making two versions of the apolipoprotein B protein: a short version called apolipoprotein B-48 and a longer version known as apolipoprotein B-100. Both of these proteins are components of lipoproteins, which transport fats and cholesterol in the blood.  Most APOB gene mutations that lead to FHBL cause both versions of apolipoprotein B to be abnormally short. The severity of the condition largely depends on the length of these two versions of apolipoprotein B. Severely shortened versions cannot partner with lipoproteins and transport fats and cholesterol. Proteins that are only slightly shortened retain some function but partner less effectively with lipoproteins. Generally, the signs and symptoms of FHBL are worse if both versions of apolipoprotein B are severely shortened. Mild or no signs and symptoms result when the proteins are only slightly shortened. All of these protein changes lead to a reduction of functional apolipoprotein B. As a result, the transportation of dietary fats and cholesterol is decreased or absent. A decrease in fat transport reduces the body's ability to absorb fats and fat-soluble vitamins from the diet.  Although APOB gene mutations are responsible for most cases of FHBL, mutations in a few other genes account for a small number of cases. Some people with FHBL do not have identified mutations in any of these genes. Changes in other, unidentified genes are likely involved in this condition.
Question: What is (are) keratitis-ichthyosis-deafness syndrome ?

Answer: Keratitis-ichthyosis-deafness (KID) syndrome is characterized by eye problems, skin abnormalities, and hearing loss.  People with KID syndrome usually have keratitis, which is inflammation of the front surface of the eye (the cornea). The keratitis may cause pain, increased sensitivity to light (photophobia), abnormal blood vessel growth over the cornea (neovascularization), and scarring. Over time, affected individuals experience a loss of sharp vision (reduced visual acuity); in severe cases the keratitis can lead to blindness.  Most people with KID syndrome have thick, hard skin on the palms of the hands and soles of the feet (palmoplantar keratoderma). Affected individuals also have thick, reddened patches of skin (erythrokeratoderma) that are dry and scaly (ichthyosis). These dry patches can occur anywhere on the body, although they most commonly affect the neck, groin, and armpits. Breaks in the skin often occur and may lead to infections. In severe cases these infections can be life-threatening, especially in infancy. Approximately 12 percent of people with KID syndrome develop a type of skin cancer called squamous cell carcinoma, which may also affect mucous membranes such as the lining of the mouth.  Partial hair loss is a common feature of KID syndrome, and often affects the eyebrows and eyelashes. Affected individuals may also have small, abnormally formed nails.  Hearing loss in this condition is usually profound, but occasionally is less severe.
Question: What are the genetic changes related to Winchester syndrome ?

Answer: Winchester syndrome is caused by mutations in the MMP14 gene (also known as MT1-MMP). This gene provides instructions for making a protein called matrix metallopeptidase 14, which is found on the surface of cells. Matrix metallopeptidase 14 normally helps modify and break down various components of the extracellular matrix, which is the intricate lattice of proteins and other molecules that forms in the spaces between cells. These changes influence many cell activities and functions, including promoting cell growth and stimulating cell movement (migration). Matrix metallopeptidase 14 also turns on (activates) a protein called matrix metallopeptidase 2. The activity of matrix metallopeptidase 2 appears to be important for a variety of body functions, including bone remodeling, which is a normal process in which old bone is broken down and new bone is created to replace it.  Mutations in the MMP14 gene alter matrix metallopeptidase 14 so that less of the enzyme is able to reach the cell surface. As a result, not enough of the enzyme is available to break down components of the extracellular matrix and activate matrix metallopeptidase 2. It is unclear how a shortage of this enzyme leads to the signs and symptoms of Winchester syndrome. It is possible that a loss of matrix metallopeptidase 2 activation somehow disrupts the balance of new bone creation and the breakdown of existing bone during bone remodeling, causing a progressive loss of bone tissue. How a reduced amount of matrix metallopeptidase 14 leads to the other features of Winchester syndrome is unknown.
Question: What causes What I need to know about Gestational Diabetes ?

Answer: Gestational diabetes happens when your body can't make enough insulin during pregnancy. Insulin is a hormone made in your pancreas, an organ located behind your stomach. Insulin helps your body use glucose for energy and helps control your blood glucose levels.
                
During pregnancy, your body makes more hormones and goes through other changes, such as weight gain. These changes cause your body's cells to use insulin less effectively, a condition called insulin resistance. Insulin resistance increases your body's need for insulin. If your pancreas can't make enough insulin, you will have gestational diabetes.
                
All pregnant women have some insulin resistance during late pregnancy. However, some women have insulin resistance even before they get pregnant, usually because they are overweight. These women start pregnancy with an increased need for insulin and are more likely to have gestational diabetes.
                

                
What are my chances of getting gestational diabetes?   Your chances of getting gestational diabetes are higher if you   - are overweight   - have had gestational diabetes before   - have given birth to a baby weighing more than 9 pounds   - have a parent, brother, or sister with type 2 diabetes   - have prediabetes, meaning your blood glucose levels are higher than normal yet not high enough for a diagnosis of diabetes   - are African American, American Indian, Asian American, Hispanic/Latina, or Pacific Islander American   - have a hormonal disorder called polycystic ovary syndrome, also known as PCOS
Question: What are the treatments for Breast Cancer ?

Answer: There are many treatment options for women with breast cancer. The choice of treatment depends on your age and general health, the stage of the cancer, whether or not it has spread beyond the breast, 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 People with cancer often are treated by a team of specialists. 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, 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. (Watch the video about this breast cancer survivor's treatment. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) Clinical Trials for Breast Cancer Some breast cancer patients take part in studies of new treatments. These studies, called clinical trials, are designed to find out whether a new treatment is both safe and effective. Often, clinical trials compare a new treatment with a standard one so that doctors can learn which is more effective. Women with breast cancer who are interested in taking part in a clinical trial should talk to 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. See a list of the current clinical trials on breast cancer.
Question: What are the treatments for Primary Myelofibrosis ?

Answer: Treatment of primary myelofibrosis in patients without signs or symptoms is usually watchful waiting.    Patients with primary myelofibrosis may have signs or symptoms of anemia. Anemia is usually treated with transfusion of red blood cells to relieve symptoms and improve quality of life. In addition, anemia may be treated with:             -  Erythropoietic growth factors.     -  Prednisone.     -  Danazol.     -  Thalidomide, lenalidomide, or pomalidomide, with or without prednisone.            Treatment of primary myelofibrosis in patients with other signs or symptoms may include the following:            -  Targeted therapy with ruxolitinib.     -  Chemotherapy.     -  Donor stem cell transplant.     - Thalidomide, lenalidomide, or pomalidomide.     -  Splenectomy.     -  Radiation therapy to the spleen, lymph nodes, or other areas outside the bone marrow where blood cells are forming.     -  Biologic therapy using interferon alfa or erythropoietic growth factors.     - A clinical trial of other targeted therapy drugs.            Check the list of NCI-supported cancer clinical trials that are now accepting patients with primary myelofibrosis. For more specific results, refine the search by using other search features, such as the location of the trial, the type of treatment, or the name of the drug. Talk with your doctor about clinical trials that may be right for you. General information about clinical trials is available from the NCI website.
Question: What are the symptoms of Steatocystoma multiplex with natal teeth ?

Answer: What are the signs and symptoms of Steatocystoma multiplex with natal teeth? The Human Phenotype Ontology provides the following list of signs and symptoms for Steatocystoma multiplex with natal teeth. 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) Neoplasm of the skin 90% Hypermelanotic macule 50% Nephrolithiasis 50% Recurrent cutaneous abscess formation 50% Congenital, generalized hypertrichosis 7.5% Abnormality of the nail - Autosomal dominant inheritance - Natal tooth - Steatocystoma multiplex - 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) Axenfeld-Rieger syndrome type 1 ?

Answer: Axenfeld-Rieger syndrome is a group of eye disorders that affects the development of the eye. Common eye symptoms include cornea defects, which is the clear covering on the front of the eye, and iris defects, which is the colored part of the eye. People with this syndrome may have an off-center pupil (corectopia) or extra holes in the eyes that can look like multiple pupils (polycoria). About 50% of people with this syndrome develop glaucoma, which is a serious condition that increases pressure inside of the eye. This may cause vision loss or blindness. Click here to view a diagram of the eye.  Even though Axenfeld-Rieger syndrome is primarily an eye disorder, this syndrome is also associated with symptoms that affect other parts of the body. Most people with this syndrome have distinctive facial features and many have issues with their teeth, including unusually small teeth (microdontia) or fewer than normal teeth (oligodontia). Some people have extra folds of skin around their belly button, heart defects, or other more rare birth defects. There are three types of Axenfeld-Rieger syndrome and each has a different genetic cause. Axenfeld-Rieger syndrome type 1 is caused by spelling mistakes (mutations) in the PITX2 gene. Axenfeld-Rieger syndrome type 3 is caused by mutations in the FOXC1 gene. The gene that causes Axenfeld-Rieger syndrome type 2 is not known, but it is located on chromosome 13. Axenfeld-Rieger syndrome has an autosomal dominant pattern of inheritance.
Question: What are the symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma ?

Answer: What are the signs and symptoms of Acromegaloid changes, cutis verticis gyrata and corneal leukoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Acromegaloid changes, cutis verticis gyrata and corneal leukoma. 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 eye - Autosomal dominant inheritance - Cutis gyrata of scalp - Large hands - Mandibular prognathia - Periostosis - Soft skin - Tall stature - 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 Immunodeficiency with hyper IgM type 5 ?

Answer: What are the signs and symptoms of Immunodeficiency with hyper IgM type 5? The Human Phenotype Ontology provides the following list of signs and symptoms for Immunodeficiency with hyper IgM type 5. 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 - Epididymitis - IgA deficiency - IgG deficiency - Immunodeficiency - Impaired Ig class switch recombination - Increased IgM level - Lymphadenopathy - Recurrent bacterial infections - Recurrent upper and lower respiratory tract infections - 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) Primary spontaneous pneumothorax ?

Answer: Primary spontaneous pneumothorax is an abnormal accumulation of air in the pleural space (the space between the lungs and the chest cavity) that can result in the partial or complete collapse of a lung. It is called primary because it occurs in the absence of lung disease such as emphysema and spontaneous because the pneumothhorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely caused by the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. This air creates pressure on the lung and can lead to its collapse. Symptoms may include chest pain on the side of the collapsed lung and shortness of breath. The blebs that lead to primary spontaneous pneumothorax may be present in an individual's lung (or lungs) for a long time before they rupture. A change in air pressure or a very sudden deep breath may cause a rupture to occur. In most cases, there are no prior signs of illness. Once a bleb ruptures and causes a pneumothorax, rates for recurrence may be as high as 13 to 60 percent. Many researchers believe that genetic factors may play a role in the development of primary spontaneous pneumothorax. In rare cases, the condition can be caused by mutations in the FLCN gene. In these cases, the condition follows an autosomal dominant pattern of inheritance. In addition, several genetic disorders have been linked to primary spontaneous pneumothorax, including Marfan syndrome, homocystinuria, and Birt-Hogg-Dube syndrome.
Question: What are the symptoms of Fowler's syndrome ?

Answer: What are the signs and symptoms of Fowler's syndrome? Fowlers syndrome typically occurs in premenopausal women (often in women under 30 years of age) who are unable to void for a day or more with no feeling of urinary urgency, but with increasing lower abdominal discomfort. The Human Phenotype Ontology provides the following list of signs and symptoms for Fowler's syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the urethra 90% Acne 90% Hypertrichosis 90% Polycystic ovaries 90% 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.