umarjan11/Medical-qna huggingface dataset:
Question: What are the genetic changes related to dyskeratosis congenita ?

Answer: In about half of people with dyskeratosis congenita, the disorder is caused by mutations in the TERT, TERC, DKC1, or TINF2 gene. These genes provide instructions for making proteins that help maintain structures known as telomeres, which are found at the ends of chromosomes. In a small number of individuals with dyskeratosis congenita, mutations in other genes involved with telomere maintenance have been identified. Other affected individuals have no mutations in any of the genes currently associated with dyskeratosis congenita. In these cases, the cause of the disorder is unknown, but other unidentified genes related to telomere maintenance are likely involved.  Telomeres help protect chromosomes from abnormally sticking together or breaking down (degrading). In most cells, telomeres become progressively shorter as the cell divides. After a certain number of cell divisions, the telomeres become so short that they trigger the cell to stop dividing or to self-destruct (undergo apoptosis).  Telomeres are maintained by two important protein complexes called telomerase and shelterin. Telomerase helps maintain normal telomere length by adding small repeated segments of DNA to the ends of chromosomes each time the cell divides. The main components of telomerase, called hTR and hTERT, are produced from the TERC and TERT genes, respectively. The hTR component is an RNA molecule, a chemical cousin of DNA. It provides a template for creating the repeated sequence of DNA that telomerase adds to the ends of chromosomes. The function of the hTERT component is to add the new DNA segment to chromosome ends. The DKC1 gene provides instructions for making another protein that is important in telomerase function. This protein, called dyskerin, attaches (binds) to hTR and helps stabilize the telomerase complex.  The shelterin complex helps protect telomeres from the cell's DNA repair process. Without the protection of shelterin, the repair mechanism would sense the chromosome ends as abnormal breaks in the DNA sequence and either attempt to join the ends together or initiate apoptosis. The TINF2 gene provides instructions for making a protein that is part of the shelterin complex.  TERT, TERC, DKC1, or TINF2 gene mutations result in dysfunction of the telomerase or shelterin complexes, leading to impaired maintenance of telomeres and reduced telomere length. Cells that divide rapidly are especially vulnerable to the effects of shortened telomeres. As a result, people with dyskeratosis congenita may experience a variety of problems affecting quickly dividing cells in the body such as cells of the nail beds, hair follicles, skin, lining of the mouth (oral mucosa), and bone marrow.  Breakage and instability of chromosomes resulting from inadequate telomere maintenance may lead to genetic changes that allow cells to divide in an uncontrolled way, resulting in the development of cancer in people with dyskeratosis congenita.
Question: What are the symptoms of Spondylocostal dysostosis 3 ?

Answer: What are the signs and symptoms of Spondylocostal dysostosis 3? The Human Phenotype Ontology provides the following list of signs and symptoms for Spondylocostal dysostosis 3. 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 form of the vertebral bodies 90% Abnormality of immune system physiology 90% Abnormality of the intervertebral disk 90% Abnormality of the ribs 90% Intrauterine growth retardation 90% Respiratory insufficiency 90% Scoliosis 90% Short neck 90% Short stature 90% Short thorax 90% Vertebral segmentation defect 90% Kyphosis 50% Abnormality of female internal genitalia 7.5% Abnormality of the ureter 7.5% Anomalous pulmonary venous return 7.5% Anteverted nares 7.5% Broad forehead 7.5% Camptodactyly of finger 7.5% Cleft palate 7.5% Cognitive impairment 7.5% Congenital diaphragmatic hernia 7.5% Cryptorchidism 7.5% Depressed nasal bridge 7.5% Displacement of the external urethral meatus 7.5% Finger syndactyly 7.5% Long philtrum 7.5% Low-set, posteriorly rotated ears 7.5% Macrocephaly 7.5% Meningocele 7.5% Microcephaly 7.5% Prominent occiput 7.5% Spina bifida occulta 7.5% Umbilical hernia 7.5% Urogenital fistula 7.5% Autosomal recessive inheritance - Slender finger - Supernumerary vertebral ossification centers - 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 Prieto X-linked mental retardation syndrome ?

Answer: What are the signs and symptoms of Prieto X-linked mental retardation syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Prieto X-linked mental retardation 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 nose 90% Clinodactyly of the 5th finger 90% Cognitive impairment 90% Gait disturbance 90% Low-set, posteriorly rotated ears 90% Ventriculomegaly 90% Abnormal dermatoglyphics 50% Abnormality of the hip bone 50% Aplasia/Hypoplasia of the earlobes 50% Cryptorchidism 50% High forehead 50% Hypertelorism 50% Increased number of teeth 50% Muscular hypotonia 50% Neurological speech impairment 50% Optic atrophy 50% Patellar dislocation 50% Sacral dimple 50% Seizures 50% Abnormality of the pupil 7.5% Abnormality of the ribs 7.5% Delayed skeletal maturation 7.5% Epicanthus 7.5% Hernia of the abdominal wall 7.5% Nystagmus 7.5% Ptosis 7.5% Reduced bone mineral density 7.5% Strabismus 7.5% 11 pairs of ribs - Abnormality of the skin - Abnormality of the teeth - Cerebral atrophy - Clinodactyly - Coxa valga - Inguinal hernia - Intellectual disability - Low-set ears - Osteoporosis - Patellar subluxation - Prominent nose - Radial deviation of finger - Retrognathia - Talipes equinovarus - X-linked recessive 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 Antisynthetase syndrome ?

Answer: What are the signs and symptoms of Antisynthetase syndrome? The signs and symptoms of antisynthetase syndrome vary but may include: Fever Loss of appetite Weight loss Muscle inflammation (myositis) Inflammation of multiple joints (polyarthritis) Interstitial lung disease (causing shortness of breath, coughing, and/or dysphagia) Mechanic's hands (thickened skin of tips and margins of the fingers) Raynaud phenomenon Some studies suggest that affected people may be at an increased risk for various types of cancer, as well. The Human Phenotype Ontology provides the following list of signs and symptoms for Antisynthetase 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) Autoimmunity 90% Chest pain 90% Muscle weakness 90% Myalgia 90% Myositis 90% Pulmonary fibrosis 90% Respiratory insufficiency 90% Restrictive lung disease 90% Abnormality of temperature regulation 50% Acrocyanosis 50% Dry skin 50% Edema 50% EMG abnormality 50% Keratoconjunctivitis sicca 50% Lack of skin elasticity 50% Muscular hypotonia 50% Xerostomia 50% Abnormality of the aortic valve 7.5% Abnormality of the myocardium 7.5% Abnormality of the voice 7.5% Chondrocalcinosis 7.5% Feeding difficulties in infancy 7.5% Joint dislocation 7.5% Neoplasm 7.5% Pruritus 7.5% Pulmonary hypertension 7.5% Recurrent respiratory infections 7.5% Skin rash 7.5% Telangiectasia of the skin 7.5% 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 genetic changes related to lactate dehydrogenase deficiency ?

Answer: Mutations in the LDHA gene cause lactate dehydrogenase-A deficiency, and mutations in the LDHB gene cause lactate dehydrogenase-B deficiency. These genes provide instructions for making the lactate dehydrogenase-A and lactate dehydrogenase-B pieces (subunits) of the lactate dehydrogenase enzyme. This enzyme is found throughout the body and is important for creating energy for cells. There are five different forms of this enzyme, each made up of four protein subunits. Various combinations of the lactate dehydrogenase-A and lactate dehydrogenase-B subunits make up the different forms of the enzyme.  The version of lactate dehydrogenase made of four lactate dehydrogenase-A subunits is found primarily in skeletal muscles, which are muscles used for movement. Skeletal muscles need large amounts of energy during high-intensity physical activity when the body's oxygen intake is not sufficient for the amount of energy required (anaerobic exercise). During anaerobic exercise, the lactate dehydrogenase enzyme is involved in the breakdown of sugar stored in the muscles (in the form of glycogen) to create additional energy. During the final stage of glycogen breakdown, lactate dehydrogenase converts a molecule called pyruvate to a similar molecule called lactate.  Mutations in the LDHA gene result in the production of an abnormal lactate dehydrogenase-A subunit that cannot attach (bind) to other subunits to form the lactate dehydrogenase enzyme. A lack of functional subunit reduces the amount of enzyme that is formed, mostly affecting skeletal muscles. As a result, glycogen is not broken down efficiently, leading to decreased energy in muscle cells. When muscle cells do not get sufficient energy during exercise or strenuous activity, the muscles become weak and muscle tissue can break down, as experienced by people with lactate dehydrogenase-A deficiency.  The version of lactate dehydrogenase made of four lactate dehydrogenase-B subunits is found primarily in heart (cardiac) muscle. In cardiac muscle, lactate dehydrogenase converts lactate to pyruvate, which can participate in other chemical reactions to create energy. LDHB gene mutations lead to the production of an abnormal lactate dehydrogenase-B subunit that cannot form the lactate dehydrogenase enzyme. Even though lactate dehydrogenase activity is decreased in the cardiac muscle of people with lactate dehydrogenase-B deficiency, they do not appear to have any signs or symptoms related to their condition. It is unclear why this type of enzyme deficiency does not cause any health problems.
Question: What are the treatments for limb-girdle muscular dystrophy ?

Answer: These resources address the diagnosis or management of limb-girdle muscular dystrophy:  - Cleveland Clinic  - Gene Review: Gene Review: Limb-Girdle Muscular Dystrophy Overview  - Genetic Testing Registry: Limb-girdle muscular dystrophy  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1A  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1B  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1C  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1E  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1F  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1G  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 1H  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2A  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2B  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2D  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2E  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2F  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2G  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2J  - Genetic Testing Registry: Limb-girdle muscular dystrophy, type 2L  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C1  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C2  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C3  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C4  - Genetic Testing Registry: Limb-girdle muscular dystrophy-dystroglycanopathy, type C5  - Johns Hopkins Medicine  - LGMD-Diagnosis.org   These resources from MedlinePlus offer information about the diagnosis and management of various health conditions:  - Diagnostic Tests  - Drug Therapy  - Surgery and Rehabilitation  - Genetic Counseling   - Palliative Care
Question: What are the treatments for Problems with Taste ?

Answer: Relief Is Possible Although there is no treatment for any gradual loss of taste that occurs with aging, relief from taste disorders is possible for many older people. Depending on the cause of your problem with taste, your doctor may be able to treat it or suggest ways to cope with it. Scientists are studying how loss of taste occurs so that treatments can be developed. Some patients regain their sense of taste when the condition or illness that is causing the loss of taste is over. For example, a middle ear infection often affects taste temporarily. Often, correcting the general medical problem can restore the sense of taste. Check Your Medications Often, a certain medication is the cause of a taste disorder, and stopping or changing the medicine may help eliminate the problem. If you take medications, ask your doctor if they can affect your sense of taste. If so, ask if you can take other medications or safely reduce the dose. Do not stop taking your medications unless directed by your doctor. Your doctor will work with you to get the medicines you need while trying to reduce unwanted side effects. If Your Diet Is Affected Because your sense of taste may gradually decline, you may not even notice the change. But your diet may change, and not for the better. You may lose interest in food and eat less, but you may choose foods that are high in fat and sugars. Or, you may eat more than you should, hoping to get more flavor from every bite. If you lose some or all of your sense of taste, there are things you can do to make your food taste better: - Prepare foods with a variety of colors and textures  - Use aromatic herbs and hot spices to add more flavor; however avoid adding more sugar or salt to food   - If your diet permits, use small amounts of cheese, bacon bits, or butter on vegetables, as well as olive oil or toasted nuts  - Avoid combination dishes, such as casseroles, that can hide individual flavors and dilute taste. Prepare foods with a variety of colors and textures Use aromatic herbs and hot spices to add more flavor; however avoid adding more sugar or salt to food If your diet permits, use small amounts of cheese, bacon bits, or butter on vegetables, as well as olive oil or toasted nuts Avoid combination dishes, such as casseroles, that can hide individual flavors and dilute taste. If Your Sense of Taste Does Not Return If you cannot regain your sense of taste, there are things you can do to ensure your safety. Take extra care to avoid food that may have spoiled. If you live with other people, ask them to smell and taste food to make sure it is fresh. People who live alone should discard food if there is a chance it is spoiled. For those who wish to have additional help, there may be support groups in your area. These are often associated with smell and taste clinics in medical school hospitals. Some online bulletin boards also allow people with smell and taste disorders to share their experiences. Not all people with taste disorders will regain their sense of taste, but most can learn to live with it.
Question: What is (are) Urinary Incontinence ?

Answer: Urinary incontinence means a person leaks urine by accident. Urinary incontinence is a common bladder problem as people age. Women are more likely than men to leak urine. If this problem is happening to you, there is help. Urinary incontinence can often be controlled. Talk to your health care provider about what you can do. Types of Urinary Incontinence There are different types of urinary incontinence. - Stress urinary incontinence happens when urine leaks as pressure is put on the bladder, for example, during exercise, coughing, sneezing, laughing, or lifting heavy objects. Its the most common type of bladder control problem in younger and middle-age women. It may begin around the time of menopause. Stress urinary incontinence happens when urine leaks as pressure is put on the bladder, for example, during exercise, coughing, sneezing, laughing, or lifting heavy objects. Its the most common type of bladder control problem in younger and middle-age women. It may begin around the time of menopause. - Urgency urinary incontinence happens when people have a sudden need to urinate and arent able to hold their urine long enough to get to the toilet.  Urgency urinary incontinence happens when people have a sudden need to urinate and arent able to hold their urine long enough to get to the toilet. - Mixed urinary incontinence is a mix of stress and urgency urinary incontinence. You may leak urine with a laugh or sneeze at one time. At another time, you may leak urine because you have a sudden urge to urinate that you cannot control. Mixed urinary incontinence is a mix of stress and urgency urinary incontinence. You may leak urine with a laugh or sneeze at one time. At another time, you may leak urine because you have a sudden urge to urinate that you cannot control. - Overflow urinary incontinence happens when small amounts of urine leak from a bladder that is always full. A man can have trouble emptying his bladder if an enlarged prostate is blocking the urethra. Diabetes and spinal cord injury can also cause this type of urinary incontinence. Overflow urinary incontinence happens when small amounts of urine leak from a bladder that is always full. A man can have trouble emptying his bladder if an enlarged prostate is blocking the urethra. Diabetes and spinal cord injury can also cause this type of urinary incontinence. - Functional urinary incontinence occurs in many older people who have a problem getting to the toilet in time. They may not make it in time because of arthritis or other disorders that make it hard to move quickly. Functional urinary incontinence occurs in many older people who have a problem getting to the toilet in time. They may not make it in time because of arthritis or other disorders that make it hard to move quickly.
Question: What are the symptoms of Kapur Toriello syndrome ?

Answer: What are the signs and symptoms of Kapur Toriello syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Kapur Toriello 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 nasal morphology 90% Aplasia/Hypoplasia affecting the eye 90% Chorioretinal coloboma 90% Cognitive impairment 90% Low-set, posteriorly rotated ears 90% Oral cleft 90% Abnormality of female external genitalia 50% Constipation 50% Hypoplasia of penis 50% Intestinal malrotation 50% Short neck 50% Abnormality of neuronal migration 7.5% Aplasia/Hypoplasia of the corpus callosum 7.5% Atresia of the external auditory canal 7.5% Patent ductus arteriosus 7.5% Preauricular skin tag 7.5% Tetralogy of Fallot 7.5% Ventricular septal defect 7.5% Abnormality of the urinary system - Atria septal defect - Autosomal recessive inheritance - Bilateral single transverse palmar creases - Bulbous nose - Camptodactyly of finger - Cataract - Cleft palate - Cleft upper lip - Clinodactyly of the 5th toe - Conductive hearing impairment - Cryptorchidism - Hypoplastic labia majora - Intellectual disability, progressive - Intellectual disability, severe - Intrauterine growth retardation - Iridoretinal coloboma - Joint contracture of the hand - Low hanging columella - Low posterior hairline - Low-set ears - Micropenis - Microphthalmia - Overlapping fingers - Pachygyria - Polymicrogyria - Scoliosis - Seizures - Short thumb - Single transverse palmar crease - 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.