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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Idiopathic basal ganglia calcification childhood-onset ? ### Doctor:
What are the signs and symptoms of Idiopathic basal ganglia calcification childhood-onset? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic basal ganglia calcification childhood-onset. 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 extrapyramidal motor function - Autosomal dominant inheritance - Autosomal recessive inheritance - Basal ganglia calcification - Calcification of the small brain vessels - Decreased body weight - Dense calcifications in the cerebellar dentate nucleus - Dolichocephaly - Dysarthria - Infantile onset - Intellectual disability, progressive - Intellectual disability, severe - Limb joint contracture - Microcephaly - Seizures - Short stature - Spasticity - Tetraplegia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) pontocerebellar hypoplasia ? ### Doctor:
Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, which are the brain structures that are most severely affected in many forms of this disorder. The pons is located at the base of the brain in an area called the brainstem, where it transmits signals between the cerebellum and the rest of the brain. The cerebellum, which is located at the back of the brain, normally coordinates movement. The term "hypoplasia" refers to the underdevelopment of these brain regions. Pontocerebellar hypoplasia also causes impaired growth of other parts of the brain, leading to an unusually small head size (microcephaly). This microcephaly is usually not apparent at birth but becomes noticeable as brain growth continues to be slow in infancy and early childhood.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the stages of Adult Central Nervous System Tumors ? ### Doctor:
Key Points
- There is no standard staging system for adult brain and spinal cord tumors. - Imaging tests may be repeated after surgery to help plan more treatment. There is no standard staging system for adult brain and spinal cord tumors. The extent or spread of cancer is usually described as stages. There is no standard staging system for brain and spinal cord tumors. Brain tumors that begin in the brain may spread to other parts of the brain and spinal cord, but they rarely spread to other parts of the body. Treatment of primary brain and spinal cord tumors is based on the following: - The type of cell in which the tumor began. - Where the tumor formed in the brain or spinal cord. - The amount of cancer left after surgery. - The grade of the tumor.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose Asbestos-Related Lung Diseases ? ### Doctor:
Your doctor will diagnose an asbestos-related lung disease based on your past exposure to asbestos, your symptoms, a physical exam, and test results. Specialists Involved
Your primary care doctor, such as a family doctor or internist, may provide ongoing care if you have an asbestos-related lung disease. Other specialists also may be involved in your care, including a:
Pulmonologist. This is a doctor who specializes in diagnosing and treating lung diseases. Radiologist. This is a doctor who is specially trained to supervise x-ray tests and look at x-ray pictures. Surgeon or oncologist. An oncologist is a doctor who specializes in diagnosing and treating cancer. The surgeon or oncologist may take a tissue sample from your lungs to study under a microscope.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Febrile infection-related epilepsy syndrome ? ### Doctor:
What are the signs and symptoms of Febrile infection-related epilepsy syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Febrile infection-related epilepsy 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) Developmental regression 90% EEG abnormality 90% Reduced consciousness/confusion 90% Seizures 90% Abnormality of temperature regulation 50% Behavioral abnormality 50% Migraine 50% Myalgia 50% Sinusitis 50% Autoimmunity 7.5% Sudden cardiac death 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is cutis laxa inherited ? ### Doctor:
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.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Thanatophoric dysplasia ? ### Doctor:
What causes thanatophoric dysplasia? Thanatophoric dysplasia is caused by mutations in the FGFR3 gene. This gene provides instructions for making a protein that is involved in the development and maintenance of bone and brain tissue. Mutations in this gene cause the FGFR3 protein to be overly active, which leads to the severe problems with bone growth that are seen in thanatophoric dysplasia. It is not known how FGFR3 mutations cause the brain and skin abnormalities associated with this disorder.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Who is at risk for What I need to know about My Child's Urinary Tract Infection? ? ### Doctor:
Any child can get a UTI, though girls get UTIs more often than boys. Children with a condition called vesicoureteral reflux (VUR) are at higher risk for UTIs. VUR causes urine to reflux at the point where one or both ureters attach to the bladder. When urine stays in the urinary tract, bacteria have a chance to grow and spread. Infants and young children who get a UTI often have VUR. Boys younger than 6 months who are not circumcised are at greater risk for a UTI than circumcised boys the same age. Boys who are circumcised have had the foreskin, which is the skin that covers the tip of the penis, removed.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for CADASIL ? ### Doctor:
How might CADASIL be treated? There is currently no treatment for CADASIL that is proven to be effective. While antiplatelet treatment is often used, it is also not proven to be useful. Migraine should be treated both symptomatically and prophylactically (with preventative methods), depending on the frequency of symptoms. When hypertension, diabetes or hypercholesterolemia (high cholesterol) are also present, they should be treated. Supportive care, including practical help, emotional support, and counseling, is useful for affected people and their families. Smoking increases the risk of stroke, so affected people who smoke should quit.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Gamma heavy chain disease ? ### Doctor:
How might gamma heavy chain disease be treated? People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy. Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin. Patients are most commonly treated and followed by oncologists and/or hematologists. Additional information about treatment of gamma heavy chain disease can be found through PubMed, a searchable database of biomedical journal articles. Although not all of the articles are available for free online, most articles listed in PubMed have a summary available. To obtain the full article, contact a medical/university library or your local library for interlibrary loan. You can also order articles online through the publisher's Web site.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Hypothalamic dysfunction ? ### Doctor:
Hypothalamic dysfunction refers to a condition in which the hypothalamus is not working properly. The hypothalamus produces hormones that control body temperature, hunger, moods, release of hormones from many glands such as the pituitary gland, sex drive, sleep, and thirst. The signs and symptoms patients have vary depending on the hormones missing. A number of different causes including anorexia, bleeding, genetic disorder, tumors, and more have been linked to hypothalamic dysfunction. Treatment depends on the cause of the hypothalamic dysfunction.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Brody myopathy ? ### Doctor:
These resources address the diagnosis or management of Brody myopathy: - Genetic Testing Registry: Brody myopathy - New York Presbyterian Hospital: Myopathy 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
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Familial pemphigus vulgaris ? ### Doctor:
What are the signs and symptoms of Familial pemphigus vulgaris? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial pemphigus vulgaris. 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) Acantholysis 90% Atypical scarring of skin 90% Feeding difficulties in infancy 90% Recurrent cutaneous abscess formation 90% Urticaria 90% Weight loss 90% Autoimmune antibody positivity - Autosomal dominant inheritance - Oral mucosal blisters - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Bursitis ? ### Doctor:
A bursa is a small, fluid-filled sac that acts as a cushion between a bone and other moving parts, such as muscles, tendons, or skin. Bursitis occurs when a bursa becomes inflamed. People get bursitis by overusing a joint. It can also be caused by an injury. It usually occurs at the knee or elbow. Kneeling or leaning your elbows on a hard surface for a long time can make bursitis start. Doing the same kinds of movements every day or putting stress on joints increases your risk. Symptoms of bursitis include pain and swelling. Your doctor will diagnose bursitis with a physical exam and tests such as x-rays and MRIs. He or she may also take fluid from the swollen area to be sure the problem isn't an infection. Treatment of bursitis includes rest, pain medicines, or ice. If there is no improvement, your doctor may inject a drug into the area around the swollen bursa.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Melkersson-Rosenthal Syndrome ? ### Doctor:
Melkersson-Rosenthal syndrome is a rare neurological disorder characterized by recurring facial paralysis, swelling of the face and lips (usually the upper lip), and the development of folds and furrows in the tongue. Onset is in childhood or early adolescence. After recurrent attacks (ranging from days to years in between), swelling may persist and increase, eventually becoming permanent. The lip may become hard, cracked, and fissured with a reddish-brown discoloration. The cause of Melkersson-Rosenthal syndrome is unknown, but there may be a genetic predisposition. It can be symptomatic of Crohn's disease or sarcoidosis.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Antiphospholipid Antibody Syndrome ? ### Doctor:
The signs and symptoms of antiphospholipid antibody syndrome (APS) are related to abnormal blood clotting. The outcome of a blood clot depends on its size and location. Blood clots can form in, or travel to, the arteries or veins in the brain, heart, kidneys, lungs, and limbs. Clots can reduce or block blood flow. This can damage the body's organs and may cause death. Major Signs and Symptoms
Major signs and symptoms of blood clots include:
Chest pain and shortness of breath
Pain, redness, warmth, and swelling in the limbs
Ongoing headaches
Speech changes
Upper body discomfort in the arms, back, neck, and jaw
Nausea (feeling sick to your stomach)
Blood clots can lead to stroke, heart attack, kidney damage, deep vein thrombosis, and pulmonary embolism.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is Tumor necrosis factor receptor-associated periodic syndrome inherited ? ### Doctor:
How is tumor necrosis factor receptor-associated periodic syndrome (TRAPS) inherited? TRAPS is inherited in an autosomal dominant manner. This means that having a mutation in only one of the 2 copies of the responsible gene is enough to cause signs and symptoms of the condition. When a person with an autosomal dominant condition has children, each child has a 50% (1 in 2) chance to inherit the mutated copy of the gene. In many cases, a person with TRAPS inherits the condition from an affected parent. In other cases, the mutation occurs for the first time in the affected person and is not inherited from a parent. For unknown reasons, some people who inherit the mutated gene never develop features of TRAPS. When this occurs, a condition is said to have reduced penetrance.
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How many people are affected by myosin storage myopathy ? ### Doctor:
Myosin storage myopathy is a rare condition. Its prevalence is unknown.
|
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What are the symptoms of Anophthalmos with limb anomalies ? ### Doctor:
What are the signs and symptoms of Anophthalmos with limb anomalies? The Human Phenotype Ontology provides the following list of signs and symptoms for Anophthalmos with limb anomalies. 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.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by Kallmann syndrome ? ### Doctor:
Kallmann syndrome is estimated to affect 1 in 10,000 to 86,000 people and occurs more often in males than in females. Kallmann syndrome 1 is the most common form of the disorder.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for alpha-methylacyl-CoA racemase deficiency ? ### Doctor:
These resources address the diagnosis or management of AMACR deficiency: - Genetic Testing Registry: Alpha-methylacyl-CoA racemase deficiency - Kennedy Krieger Institute: Peroxisomal Diseases 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
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Alport syndrome ? ### Doctor:
Alport syndrome is a genetic condition characterized by kidney disease, hearing loss, and eye abnormalities. Most affected individuals experience progressive loss of kidney function, usually resulting in end-stage kidney disease. People with Alport syndrome also frequently develop sensorineural hearing loss in late childhood or early adolescence. The eye abnormalities seen in this condition seldom lead to vision loss. In 80% of cases, Alport syndrome is inherited in an X-linked manner and is caused by mutations in the COL4A5 gene. In the remaining cases, it may be inherited in either an autosomal recessive or autosomal dominant manner and caused by mutations in the COL4A3 or COL4A4 genes. Treatment may include use of a hearing aid; hemodialysis and peritoneal dialysis to treat those with end-stage renal failure; and kidney transplantation.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is the outlook for Arachnoiditis ? ### Doctor:
Arachnoiditis is adisorder that causes chronic pain and neurological deficits and does not improve significantly with treatment.Surgery may only provide temporary relief. The outlook for someone witharachnoiditis iscomplicated by the fact that the disorder has no predictable pattern or severity of symptoms.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Diabetes ? ### Doctor:
Many people with diabetes experience one or more symptoms, including extreme thirst or hunger, a frequent need to urinate and/or fatigue. Some lose weight without trying. Additional signs include sores that heal slowly, dry, itchy skin, loss of feeling or tingling in the feet and blurry eyesight. Some people with diabetes, however, have no symptoms at all.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Biliary Atresia ? ### Doctor:
Biliary atresia is treated with surgery, called the Kasai procedure, or a liver transplant. Kasai Procedure
The Kasai procedure, named after the surgeon who invented the operation, is usually the first treatment for biliary atresia. During a Kasai procedure, the pediatric surgeon removes the infants damaged bile ducts and brings up a loop of intestine to replace them. As a result, bile flows straight to the small intestine. While this operation doesnt cure biliary atresia, it can restore bile flow and correct many problems caused by biliary atresia. Without surgery, infants with biliary atresia are unlikely to live past age 2. This procedure is most effective in infants younger than 3 months old, because they usually havent yet developed permanent liver damage.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose Osteoporosis ? ### Doctor:
Who Should Be Tested? The United States Preventive Service Task Force recommends that women aged 65 and older be screened (tested) for osteoporosis, as well as women aged 60 and older who are at increased risk for an osteoporosis-related fracture. However, the decision of whether or not to have a bone density test is best made between a patient and his or her physician. Medicare will usually cover the cost of a bone density test, and a follow up test every 2 years, for female beneficiaries. It also will cover screening and follow up of any male Medicare recipients who have significant risk factors for osteoporosis. When To Talk With a Doctor Consider talking to your doctor about being evaluated for osteoporosis if - you are a man or woman over age 50 or a postmenopausal woman and you break a bone - you are a woman age 65 or older - you are a woman younger than 65 and at high risk for fractures - you have lost height, developed a stooped or hunched posture, or experienced sudden back pain with no apparent cause - you have been taking glucocorticoid medications such as prednisone, cortisone, or dexamethasone for 2 months or longer or are taking other medications known to cause bone loss - you have a chronic illness or are taking a medication that is known to cause bone loss - you have anorexia nervosa or a history of this eating disorder.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) ZAP70-related severe combined immunodeficiency ? ### Doctor:
ZAP70-related severe combined immunodeficiency (SCID) is an inherited disorder that damages the immune system. ZAP70-related SCID is one of several forms of severe combined immunodeficiency, a group of disorders with several genetic causes. Children with SCID lack virtually all immune protection from bacteria, viruses, and fungi. They are prone to repeated and persistent infections that can be very serious or life-threatening. Often the organisms that cause infection in people with this disorder are described as opportunistic because they ordinarily do not cause illness in healthy people. Infants with SCID typically experience pneumonia, chronic diarrhea, and widespread skin rashes. They also grow much more slowly than healthy children. If not treated in a way that restores immune function, children with SCID usually live only a year or two.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) X-linked infantile nystagmus ? ### Doctor:
X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. The abnormal eye movements may worsen when an affected person is feeling anxious or tries to stare directly at an object. The severity of nystagmus varies, even among affected individuals within the same family. Sometimes, affected individuals will turn or tilt their head to compensate for the irregular eye movements.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is dystrophic epidermolysis bullosa inherited ? ### Doctor:
The most severe types of dystrophic epidermolysis bullosa are inherited in an autosomal recessive pattern. Autosomal recessive inheritance means that both copies of the COL7A1 gene in each cell have mutations. Most often, the parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. A milder form of dystrophic epidermolysis bullosa has an autosomal dominant pattern of inheritance. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. About 70 percent of all people with autosomal dominant dystrophic epidermolysis bullosa have inherited an altered COL7A1 gene from an affected parent. The remaining 30 percent of affected people have the condition as a result of a new mutation in the COL7A1 gene.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Cushing's syndrome ? ### Doctor:
What causes Cushing's syndrome? Cushing's syndrome is caused by long-term exposure of the body's tissues to cortisol, a hormone that is naturally produced by the adrenal gland. Exposure to too much cortisol can result from long-term use of corticosteriod medications used to treat inflammatory illnesses. Pituitary adenomas (benign tumors of the pituitary gland) or tumors of the adrenal gland may also cause cortisol imbalances.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is Triple A syndrome inherited ? ### Doctor:
How is triple A syndrome inherited? Triple A syndrome is inherited in an autosomal recessive pattern,which 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 and are referred to as "carriers" but they typically do not show signs and symptoms of the condition. When 2 carriers for the same autosomal recessive condition have a child, there is a 25% (1 in 4) chance that the child will have the condition, a 50% (1 in 2) chance that the child will be a carrier like each of the parents, and a 25% chance that the child will not have the condition and not be a carrier for the condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Geniospasm ? ### Doctor:
What are the signs and symptoms of Geniospasm? The Human Phenotype Ontology provides the following list of signs and symptoms for Geniospasm. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Chin myoclonus - 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.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Nephropathic cystinosis ? ### Doctor:
Cystinosis is an inherited condition in which the body accumulates the amino acid cystine (a building block of proteins) within the cells. Excess cystine forms crystals that can build up and damage cells. These crystals can negatively affect many systems in the body, especially the kidneys and eyes. There are three distinct types of cystinosis: nephropathic cystinosis, intermediate cystinosis, and non-nephropathic or ocular cystinosis. All three types of cystinosis are caused by mutations in the CTNS gene and inherited in an autosomal recessive pattern. [1]
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is MECP2-related severe neonatal encephalopathy inherited ? ### Doctor:
MECP2-related severe neonatal encephalopathy has an X-linked pattern of inheritance. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males, who have only one X chromosome, a mutation in the only copy of the gene in each cell is sufficient to cause the condition. In females, who have two X chromosomes, a mutation in one of the two copies of the gene in each cell is usually sufficient to cause the condition. However, females with a mutation in the MECP2 gene do not develop MECP2-related severe neonatal encephalopathy. Instead, they typically develop Rett syndrome, which has signs and symptoms that include intellectual disability, seizures, and movement problems.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Chondrosarcoma ? ### Doctor:
What are the signs and symptoms of Chondrosarcoma? The Human Phenotype Ontology provides the following list of signs and symptoms for Chondrosarcoma. 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 - Chondrosarcoma - 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.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Platelet storage pool deficiency ? ### Doctor:
How might platelet storage pool deficiency be treated? Treatment for platelet storage pool deficiency is symptomatic. For example, people who have severe episodes of bleeding may require platelet transfusions or antifibrinolytic medications, particularly during periods of high risk such as during surgical procedures or after an injury. Transfusions are generally used with caution as the potential risks often outweigh the benefits when bleeding is not life-threatening. People with a platelet storage pool deficiency should avoid antiplatelet drugs such as aspirin and other nonsteroidal anti-inflammatory drugs (NSAIDS).
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Laryngeal Cancer ? ### Doctor:
New types of treatment are being tested in clinical trials. This summary section describes treatments that are being studied in clinical trials. It may not mention every new treatment being studied. Information about clinical trials is available from the NCI Web site. Chemoprevention Chemoprevention is the use of drugs, vitamins, or other substances to reduce the risk of developing cancer or to reduce the risk cancer will recur (come back). The drug isotretinoin is being studied to prevent the development of a second cancer in patients who have had cancer of the head or neck. Radiosensitizers Radiosensitizers are drugs that make tumor cells more sensitive to radiation therapy. Combining radiation therapy with radiosensitizers may kill more tumor cells.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Cushing disease ? ### Doctor:
What are the signs and symptoms of Cushing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Cushing disease. 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 adipose tissue 90% Hypercortisolism 90% Neoplasm of the endocrine system 90% Round face 90% Thin skin 90% Truncal obesity 90% Acne 50% Bruising susceptibility 50% Decreased fertility 50% Diabetes mellitus 50% Hypertension 50% Hypertrichosis 50% Hypokalemia 50% Nephrolithiasis 50% Recurrent fractures 50% Reduced bone mineral density 50% Abdominal pain 7.5% Abnormality of the gastric mucosa 7.5% Aseptic necrosis 7.5% Cataract 7.5% Generalized hyperpigmentation 7.5% Hypertrophic cardiomyopathy 7.5% Migraine 7.5% Myopathy 7.5% Paronychia 7.5% Reduced consciousness/confusion 7.5% Secondary amenorrhea 7.5% Skin ulcer 7.5% Sleep disturbance 7.5% Telangiectasia of the skin 7.5% Thrombophlebitis 7.5% Visual impairment 7.5% Abdominal obesity - Abnormal fear/anxiety-related behavior - Alkalosis - Biconcave vertebral bodies - Edema - Facial erythema - Glucose intolerance - Hirsutism - Increased circulating ACTH level - Kyphosis - Mood changes - Oligomenorrhea - Osteoporosis - Pituitary adenoma - Poor wound healing - Psychotic mentation - Purpura - Skeletal muscle atrophy - Striae distensae - Vertebral compression fractures - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is ZAP70-related severe combined immunodeficiency inherited ? ### Doctor:
This condition is inherited in an autosomal recessive pattern, which 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.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Miller syndrome ? ### Doctor:
Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals. Children with Miller syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth (cleft palate) and/or a split in the upper lip (cleft lip). These abnormalities frequently cause feeding problems in infants with Miller syndrome. The airway is usually restricted due to the micrognathia, which can lead to life-threatening breathing problems. People with Miller syndrome often have eyes that slant downward, eyelids that turn out so the inner surface is exposed (ectropion), and a notch in the lower eyelids called an eyelid coloboma.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for trisomy 18 ? ### Doctor:
These resources address the diagnosis or management of trisomy 18: - Genetic Testing Registry: Complete trisomy 18 syndrome - MedlinePlus Encyclopedia: Trisomy 18 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
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Heart Failure ? ### Doctor:
There is no cure for heart failure, but it can be controlled by treating the underlying conditions that cause it. Treatment for heart failure will depend on the type and stage of heart failure (the severity of the condition). The goals for treatment of all stages of heart failure are to reduce symptoms, treat the cause (such as heart disease, high blood pressure, or diabetes), stop the disease from worsening, and prolong life. Treatments for Heart Failure Treatments for heart failure include - lifestyle changes - medications - specialized care for those who are in the advanced stages. lifestyle changes medications specialized care for those who are in the advanced stages. Treatment for heart failure will reduce the chances that you will have to go to the hospital and make it easier for you to do the things you like to do.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for autoimmune Addison disease ? ### Doctor:
These resources address the diagnosis or management of autoimmune Addison disease: - Genetic Testing Registry: Addison's disease - MedlinePlus Encyclopedia: Addison's Disease 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
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Lipodermatosclerosis ? ### Doctor:
What causes lipodermatosclerosis? The exact cause of lipodermatosclerosis is unknown; however, it may be related to certain vein abnormalities and/or obesity. Lipodermatosclerosis often occurs in people with venous insufficiency. Approximately two thirds of affected people are obese.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Transverse Myelitis ? ### Doctor:
No effective cure currently exists for people with transverse myelitis. Physicians often prescribe corticosteroid therapy during the first few weeks of illness to decrease inflammation. Following initial therapy, the most critical part of the treatment for this disorder consists of keeping the patients body functioning while hoping for either complete or partial spontaneous recovery of the nervous system. If an individual begins to recover limb control, physical therapy begins to help improve muscle strength, coordination, and range of motion.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of 16q24.3 microdeletion syndrome ? ### Doctor:
What are the signs and symptoms of 16q24.3 microdeletion syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for 16q24.3 microdeletion 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 pinna 90% Autism 90% High forehead 90% Abnormality of neuronal migration 50% Abnormality of the palate 50% Aplasia/Hypoplasia of the corpus callosum 50% Cognitive impairment 50% Frontal bossing 50% Optic atrophy 50% Pointed chin 50% Seizures 50% Thrombocytopenia 50% Ventriculomegaly 50% Wide mouth 50% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Anteverted nares 7.5% Astigmatism 7.5% Cryptorchidism 7.5% Feeding difficulties in infancy 7.5% Hearing impairment 7.5% Highly arched eyebrow 7.5% Hypertrophic cardiomyopathy 7.5% Kyphosis 7.5% Long face 7.5% Long philtrum 7.5% Macrocytic anemia 7.5% Myopia 7.5% Narrow forehead 7.5% Neurological speech impairment 7.5% Nystagmus 7.5% Otitis media 7.5% Preauricular skin tag 7.5% Proximal placement of thumb 7.5% Scoliosis 7.5% Strabismus 7.5% Thick lower lip vermilion 7.5% Triangular face 7.5% Upslanted palpebral fissure 7.5% Ventricular septal defect 7.5% Visual impairment 7.5% The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) WAGR syndrome ? ### Doctor:
WAGR syndrome is a genetic syndrome in which there is a predisposition to several conditions, including certain malignancies, distinctive eye abnormalities, and/or mental retardation. WAGR is an acronym for Wilms tumor, Aniridia, Genitourinary anomalies (such as undescended testicles or hypospadias in males, or internal genital or urinary anomalies in females), mental Retardation syndrome. A combination of two or more of these conditions is usually present in most individuals with WAGR syndrome. The syndrome is due to a microdeletion in the 11p13 region of chromosome 11. In most cases, this genetic change occurs spontaneously during early embryonic development (de novo) for unknown reasons (sporadic). Only rarely is the mutation inherited.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose What I need to know about Hepatitis C ? ### Doctor:
A blood test will show if you have hepatitis C. Blood tests are done at a doctors office or outpatient facility. A blood sample is taken using a needle inserted into a vein in your arm or hand. The blood sample is sent to a lab to test for hepatitis C.
If you are at higher risk of getting hepatitis C, get tested. Many people with hepatitis C do not know they are infected. Your doctor may suggest getting a liver biopsy if chronic hepatitis C is suspected. A liver biopsy is a test to take a small piece of your liver to look for liver damage. The doctor may ask you to stop taking certain medicines before the test. You may be asked to fast for 8 hours before the test. During the test, you lie on a table with your right hand resting above your head.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) progressive familial intrahepatic cholestasis ? ### Doctor:
Progressive familial intrahepatic cholestasis (PFIC) is a disorder that causes progressive liver disease, which typically leads to liver failure. In people with PFIC, liver cells are less able to secrete a digestive fluid called bile. The buildup of bile in liver cells causes liver disease in affected individuals. Signs and symptoms of PFIC typically begin in infancy and are related to bile buildup and liver disease. Specifically, affected individuals experience severe itching, yellowing of the skin and whites of the eyes (jaundice), failure to gain weight and grow at the expected rate (failure to thrive), high blood pressure in the vein that supplies blood to the liver (portal hypertension), and an enlarged liver and spleen (hepatosplenomegaly).
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Is trichothiodystrophy inherited ? ### Doctor:
This condition is inherited in an autosomal recessive pattern, which 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.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) pulmonary veno-occlusive disease ? ### Doctor:
Pulmonary veno-occlusive disease (PVOD) is characterized by the blockage (occlusion) of the blood vessels that carry oxygen-rich (oxygenated) blood from the lungs to the heart (the pulmonary veins). The occlusion is caused by a buildup of abnormal fibrous tissue in the small veins in the lungs, which narrows the vessels and impairs blood flow. Because blood flow through the lungs is difficult, pressure rises in the vessels that carry blood that needs to be oxygenated to the lungs from the heart (the pulmonary arteries). Increased pressure in these vessels is known as pulmonary arterial hypertension. The problems with blood flow in PVOD also impair the delivery of oxygenated blood to the rest of the body, which leads to the signs and symptoms of the condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Neutral lipid storage disease with myopathy ? ### Doctor:
How might neutral lipid storage disease with myopathy be treated? To date, there is no treatment for the underlying metabolic problem. Current therapies include adhering to strict dietary guidelines and utilizing treatments focused on the associated symptoms. A recent study suggests that people with this condition may benefit from bezafibrate (a medication used to treat high cholesterol) treatment, particularly with respect to lipid accumulation and fat oxidative capacity. Additional studies into this therapy are needed.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Neuromyelitis Optica ? ### Doctor:
The mission of the National Institute of Neurological Disorders and Stroke (NINDS) is to seek fundamental knowledge of the brain and nervous system and to use that knowledge to reduce the burden of neurological disease. The NINDS is a component of the National Institutes of Health, the leading supporter of biomedical research in the world. NINDS researchers are working to better understand the process by which the immune system destroys or attacks the nerve insulating substance called myelin in autoijmune diseases or disorders. Other work focuses on strategies to repair demyelinated spinal cords, including approaches using cell transplantation. this research may lead to a grater understanding of the mechanisms responsible for damaging myelin and may ultimately provide a means to prevent and treat transverse myelitis An NINDS-funded study comparing clinical MRI and lumbar puncture of healthy individuals to those with symptoms of immune-related central nervous system damage hopes to identify processes or mechanisms to inhibit or minimize spinal tissue damage and enhance recovery mechanisms.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Pontocerebellar hypoplasia type 2 ? ### Doctor:
Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. Children with this condition often pass away prior to age 10 years, although survival beyond age 20 years has been reported. PCH2 is caused by changes (mutations) in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner. Treatment is supportive and based on the signs and symptoms present in each person.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by task-specific focal dystonia ? ### Doctor:
Task-specific focal dystonia affects an estimated 7 to 69 per million people in the general population. Musician's dystonia that is severe enough to impact performance occurs in about 1 percent of musicians.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is histiocytosis-lymphadenopathy plus syndrome inherited ? ### Doctor:
This condition is inherited in an autosomal recessive pattern, which 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.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is Lowe syndrome inherited ? ### Doctor:
This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, 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 must be present in both copies of the gene to cause the disorder. Most X-linked disorders affect males much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In some cases of Lowe syndrome, an affected male inherits the mutation from a mother who carries one altered copy of the OCRL gene. Other cases result from new mutations in the gene and occur in males with no history of the disorder in their family.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is deafness-dystonia-optic neuronopathy syndrome inherited ? ### Doctor:
DDON syndrome is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which 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 DDON syndrome. 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. Females who carry one altered copy of the TIMM8A gene are typically unaffected; however, they may develop mild hearing loss and dystonia. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for VLCAD deficiency ? ### Doctor:
How might VLCAD deficiency be treated? Management of VLCAD deficiency depends on many factors, including the form of the condition and the specific signs and symptoms present. For example, people affected by the severe forms of the condition are typically placed on a low-fat, high-carbohydrate diet with frequent meals. Supplemental calories may be provided through medium-chain triglycerides (MCT oil). If hospitalization is necessary for acute episodes of hypoglycemia and/or metabolic crisis, intravenous glucose may be administered as an energy source. Periods of rhabdomyolysis may be treated with hydration and alkalization of the urine (decreasing the amount of acid you take in) to protect kidney function and to prevent acute kidney failure. Affected people are generally advised to avoid fasting, dehydration, and a high-fat diet.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Renal dysplasia-limb defects syndrome ? ### Doctor:
What are the signs and symptoms of Renal dysplasia-limb defects syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Renal dysplasia-limb defects 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 form of the vertebral bodies 90% Abnormality of the fibula 90% Abnormality of the palate 90% Abnormality of the ulna 90% Aplasia/Hypoplasia of the lungs 90% Aplasia/Hypoplasia of the radius 90% Convex nasal ridge 90% Intrauterine growth retardation 90% Micromelia 90% Multicystic kidney dysplasia 90% Narrow mouth 90% Oligohydramnios 90% Respiratory insufficiency 90% Short stature 90% Talipes 90% Abnormality of the ribs 50% Aplasia/Hypoplasia of the cerebellum 50% Cleft upper lip 50% Humeroradial synostosis 50% Renal hypoplasia/aplasia 50% Short neck 50% Abnormality of the pinna - Absent ulna - Autosomal recessive inheritance - Clitoral hypertrophy - Cryptorchidism - Depressed nasal bridge - Fibular aplasia - High palate - Hypoplasia of the radius - Low-set ears - Maternal diabetes - Neonatal death - Phocomelia - Pneumothorax - Prominent occiput - Pulmonary hypoplasia - Renal dysplasia - Renal hypoplasia - Respiratory distress - Respiratory failure - Short metacarpal - Short ribs - Short sternum - Single umbilical artery - Talipes equinovarus - Thin ribs - Thin vermilion border - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to granulomatosis with polyangiitis ? ### Doctor:
The genetic basis of GPA is not well understood. Having a particular version of the HLA-DPB1 gene is the strongest genetic risk factor for developing this condition, although several other genes, some of which have not been identified, may be involved. It is likely that a combination of genetic and environmental factors lead to GPA. GPA is an autoimmune disorder. Such disorders occur when the immune system malfunctions and attacks the body's own tissues and organs. Approximately 90 percent of people with GPA have an abnormal immune protein called an anti-neutrophil cytoplasmic antibody (ANCA) in their blood. Antibodies normally bind to specific foreign particles and germs, marking them for destruction, but ANCAs attack normal human proteins.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Tularemia ? ### Doctor:
What are the symptoms of tularemia? The symptoms of tularemia usually appear 3 to 5 days after exposure to the bacteria, but can take as long as 14 days. Symptoms may include: Fever Chills Headache Diarrhea Muscle pains Joint stiffness Dry cough Progressive weakness Sweating Weight loss People can also catch pneumonia and develop chest pain, bloody sputum and can have trouble breathing and even sometimes stop breathing. Other symptoms of tularemia depend on how a person was exposed to the tularemia bacteria. These symptoms can include ulcers on the skin or mouth, swollen and painful lymph glands, swollen and painful eyes, and a sore throat.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Gastritis ? ### Doctor:
Erosive gastritis may cause ulcers or erosions in the stomach lining that can bleed. Signs and symptoms of bleeding in the stomach include
- shortness of breath - dizziness or feeling faint - red blood in vomit - black, tarry stools - red blood in the stool - weakness - paleness
A person with any signs or symptoms of bleeding in the stomach should call or see a health care provider right away. More information is provided in the NIDDK health topic, Bleeding in the Digestive Tract.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Epidermolysis bullosa acquisita ? ### Doctor:
What causes epidermolysis bullosa acquisita? The underlying cause of epidermolysis bullosa acquisita (EBA) is not known. It is thought to be an autoimmune disorder, which means that the immune system attacks healthy cells by mistake. In EBA, certain immune proteins (usually IgG autoantibodies) mistakenly target and attack a specific type of collagen (a skin protein) involved in "anchoring" the skin. In some milder cases of EBA, the immune proteins involved are thought to be IgA, rather than IgG autoantibodies. The initiating event that leads to autoantibody production is unknown. EBA affecting several family members has been reported, suggesting a genetic component may be involved in some cases. Rarely, people with lupus, a systemic autoimmune disease, develop a generalized blistering skin disease with the features of EBA.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What causes Pneumonia ? ### Doctor:
Many germs can cause pneumonia. Examples include different kinds of bacteria, viruses, and, less often, fungi. Most of the time, the body filters germs out of the air that we breathe to protect the lungs from infection. Your immune system, the shape of your nose and throat, your ability to cough, and fine, hair-like structures called cilia (SIL-e-ah) help stop the germs from reaching your lungs. (For more information, go to the Diseases and Conditions Index How the Lungs Work article.) Sometimes, though, germs manage to enter the lungs and cause infections. This is more likely to occur if:
Your immune system is weak
A germ is very strong
Your body fails to filter germs out of the air that you breathe
For example, if you can't cough because you've had a stroke or are sedated, germs may remain in your airways.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Spinocerebellar ataxia 2 ? ### Doctor:
What are the signs and symptoms of Spinocerebellar ataxia 2? Early symptoms of spinocerebellar ataxia may include uncoordinated movement (ataxia) and leg cramps. Other symptoms may include tremor; decreased muscle tone; poor tendon reflexes; abnormal eye movements; dementia; dystonia and/or chorea; muscle twitches; nerve irritation and swelling (polyneuropathy); leg weakness; difficulty swallowing; bladder dysfunction; and parkinsonism. The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 2. 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.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Giant platelet syndrome ? ### Doctor:
What are the signs and symptoms of Giant platelet syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Giant platelet 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 bleeding - Abnormality of the abdomen - Autosomal recessive inheritance - Epistaxis - Increased mean platelet volume - Menorrhagia - Prolonged bleeding time - Purpura - Thrombocytopenia - 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.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Mucopolysaccharidosis type IIIC ? ### Doctor:
What are the signs and symptoms of Mucopolysaccharidosis type IIIC? The Human Phenotype Ontology provides the following list of signs and symptoms for Mucopolysaccharidosis type IIIC. 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) Coarse hair 90% Cognitive impairment 90% Hypertrichosis 90% Malabsorption 90% Mucopolysacchariduria 90% Otitis media 90% Sleep disturbance 90% Abnormal form of the vertebral bodies 50% Abnormality of the clavicle 50% Abnormality of the hip bone 50% Abnormality of the ribs 50% Cataract 50% Craniofacial hyperostosis 50% Developmental regression 50% Genu valgum 50% Hearing impairment 50% Hypertonia 50% Incoordination 50% Limitation of joint mobility 50% Myopia 50% Opacification of the corneal stroma 50% Scoliosis 50% Seizures 50% Umbilical hernia 50% Vocal cord paresis 50% Hepatomegaly 7.5% Splenomegaly 7.5% Asymmetric septal hypertrophy - Autosomal recessive inheritance - Cellular metachromasia - Coarse facial features - Dense calvaria - Diarrhea - Dolichocephaly - Dysostosis multiplex - Dysphagia - Growth abnormality - Heparan sulfate excretion in urine - Hernia - Hirsutism - Hyperactivity - Intellectual disability - Joint stiffness - Kyphoscoliosis - Loss of speech - Motor delay - Motor deterioration - Ovoid thoracolumbar vertebrae - Recurrent upper respiratory tract infections - Rod-cone dystrophy - Synophrys - Thickened ribs - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Idiopathic CD4 positive T-lymphocytopenia ? ### Doctor:
What are the signs and symptoms of Idiopathic CD4 positive T-lymphocytopenia? The Human Phenotype Ontology provides the following list of signs and symptoms for Idiopathic CD4 positive T-lymphocytopenia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Bronchiolitis obliterans organizing pneumonia - Immunodeficiency - Lymphopenia - Recurrent otitis media - Recurrent sinusitis - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Parasites - Trichuriasis (also known as Whipworm Infection) ? ### Doctor:
Whipworm (Trichuris trichiura) is an intestinal parasite of humans. The larvae and adult worms live in the intestine of humans and can cause intestinal disease. The name is derived from the worm’s distinctive whip-like shape.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) G6PD Deficiency ? ### Doctor:
Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a genetic disorder that is most common in males. About 1 in 10 African American males in the United States has it. G6PD deficiency mainly affects red blood cells, which carry oxygen from the lungs to tissues throughout the body. The most common medical problem it can cause is hemolytic anemia. That happens when red blood cells are destroyed faster than the body can replace them. If you have G6PD deficiency, you may not have symptoms. Symptoms happen if your red blood cells are exposed to certain chemicals in food or medicine, certain bacterial or viral infections, or stress. They may include - Paleness - Jaundice - Dark urine - Fatigue - Shortness of breath - Enlarged spleen - Rapid heart rate A blood test can tell if you have it.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Hidradenocarcinoma ? ### Doctor:
Hidradenocarcinoma is a tumor caused by the abnormal growth of cells in a sweat gland. It is a type of cancer that usually begins as a single spot (lesion) on the skin of the head or neck, but it has also been found on other parts of the body. This type of tumor typically develops in older individuals (after age 40). Each hidradenocarcinoma develops differently over time; some may stay the same size and others grow rapidly. Sometimes it may spread into nearby tissues, or to more distant parts of the body in a process called metastasis. It is not known why some hidradenocarcinomas progress rapidly while others remain stable.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Blood Disorders ? ### Doctor:
Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet. Types of blood disorders include - Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots - Anemia, which happens when your blood does not carry enough oxygen to the rest of your body - Cancers of the blood, such as leukemia and myeloma - Eosinophilic disorders, which are problems with one type of white blood cell.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is familial HDL deficiency inherited ? ### Doctor:
Familial HDL deficiency is inherited in an autosomal dominant pattern, which means an alteration in one copy of either the ABCA1 or the APOA1 gene in each cell is sufficient to cause the disorder. People with alterations in both copies of the ABCA1 gene develop the related disorder Tangier disease.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by androgenetic alopecia ? ### Doctor:
Androgenetic alopecia is a frequent cause of hair loss in both men and women. This form of hair loss affects an estimated 50 million men and 30 million women in the United States. Androgenetic alopecia can start as early as a person's teens and risk increases with age; more than 50 percent of men over age 50 have some degree of hair loss. In women, hair loss is most likely after menopause.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Diffuse mesangial sclerosis ? ### Doctor:
What are the signs and symptoms of Diffuse mesangial sclerosis? The Human Phenotype Ontology provides the following list of signs and symptoms for Diffuse mesangial sclerosis. 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) Focal segmental glomerulosclerosis 5% Autosomal recessive inheritance - Childhood onset - Diffuse mesangial sclerosis - Nephroblastoma (Wilms tumor) - Nephrotic syndrome - Progressive - Renal insufficiency - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is atelosteogenesis type 3 inherited ? ### Doctor:
This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by sensorineural deafness and male infertility ? ### Doctor:
The prevalence of sensorineural deafness and male infertility is unknown.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose Hypotension ? ### Doctor:
Hypotension is diagnosed based on your medical history, a physical exam, and test results. Your doctor will want to know:
The type of hypotension you have and how severe it is
Whether an underlying condition is causing the hypotension
Specialists Involved
A primary care doctor or specialist may diagnose and treat hypotension. The type of specialist most commonly involved is a cardiologist (heart specialist). Other specialists also may be involved, such as surgeons, nephrologists (kidney specialists), or neurologists (brain and nerve specialists). Diagnostic Tests
Shock is a life-threatening condition that requires emergency treatment. For other types of hypotension, your doctor may recommend tests to find out how your blood pressure responds in certain situations.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to branchio-oculo-facial syndrome ? ### Doctor:
Branchio-oculo-facial syndrome is caused by mutations in the TFAP2A gene. This gene provides instructions for making a protein called transcription factor AP-2 alpha (AP-2). As its name suggests, this protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and helps control the activity of particular genes. Transcription factor AP-2 regulates genes that are involved in several cellular processes, such as cell division and the self-destruction of cells that are no longer needed (apoptosis). This protein is critical during development before birth, particularly of the branchial arches, which form the structures of the face and neck. Most TFAP2A gene mutations that cause branchio-oculo-facial syndrome change single protein building blocks (amino acids) in the transcription factor AP-2 protein.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to Leydig cell hypoplasia ? ### Doctor:
Mutations in the LHCGR gene cause Leydig cell hypoplasia. The LHCGR gene provides instructions for making a protein called the luteinizing hormone/chorionic gonadotropin receptor. Receptor proteins have specific sites into which certain other proteins, called ligands, fit like keys into locks. Together, ligands and their receptors trigger signals that affect cell development and function. The protein produced from the LHCGR gene acts as a receptor for two ligands: luteinizing hormone and a similar hormone called chorionic gonadotropin. The receptor allows the body to respond appropriately to these hormones. In males, chorionic gonadotropin stimulates the development of cells in the testes called Leydig cells, and luteinizing hormone triggers these cells to produce androgens.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Glutaric acidemia type I ? ### Doctor:
Glutaric acidemia type I (GA1) is an inherited disorder in which the body can't process certain proteins properly. People with GA1 have inadequate levels of an enzyme needed to break down certain amino acids. These amino acids and their intermediate breakdown products can accumulate, causing damage to the brain (particularly the basal ganglia, which helps control movement). Specific symptoms and severity vary, but features may include macrocephaly; difficulty moving; having jerking, rigidity, or decreased muscle tone; and/or intellectual disability. GA1 is caused by mutations in the GCDH gene and is inherited in an autosomal recessive manner. Treatment includes strict dietary control, which may limit progression of symptoms.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by Hennekam syndrome ? ### Doctor:
At least 50 cases of Hennekam syndrome have been reported worldwide.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the complications of Renal Artery Stenosis ? ### Doctor:
People with RAS are at increased risk for complications resulting from loss of kidney function or atherosclerosis occurring in other blood vessels, such as
- chronic kidney disease (CKD)reduced kidney function over a period of time - coronary artery diseasenarrowing and hardening of arteries that supply blood to the heart - strokebrain damage caused by lack of blood flow to the brain - peripheral vascular diseaseblockage of blood vessels that restricts flow of blood from the heart to other parts of the body, particularly the legs
RAS can lead to kidney failure, described as end-stage renal disease when treated with blood-filtering treatments called dialysis or a kidney transplant, though this is uncommon in people who receive ongoing treatment for RAS.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Striatonigral Degeneration ? ### Doctor:
The NINDS supports and conducts research on disorders of the brain and nervous system such as striatonigral degeneration. This research focuses on finding ways to prevent and treat these disorders.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How many people are affected by Canavan disease ? ### Doctor:
While this condition occurs in people of all ethnic backgrounds, it is most common in people of Ashkenazi (eastern and central European) Jewish heritage. Studies suggest that this disorder affects 1 in 6,400 to 13,500 people in the Ashkenazi Jewish population. The incidence in other populations is unknown.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Filippi syndrome ? ### Doctor:
What are the signs and symptoms of Filippi syndrome? Filippi syndrome is characterized by growth delays before and after birth, a low birth weight, and short stature. Affected individuals are also born with abnormalities of the head and facial area (craniofacial abnormalities), resulting in a distinctive facial appearance. Affected infants typically have a small head (microcephaly), a high forehead, a broad bridge of the nose, thin nostrils, an abnormally thin upper lip, and widely spaced eyes (hypertelorism). Filippi syndrome is also characterized by mild to severe intellectual disability; some affected individuals may have abnormal language and speech development, potentially resulting in an inability to speak. Abnormalities of the fingers and toes have also been reported.
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What causes Jones syndrome ? ### Doctor:
What causes Jones syndrome? The exact, underlying genetic cause of Jones syndrome is not yet known.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Graves' Disease ? ### Doctor:
People with Graves disease have three treatment options: radioiodine therapy, medications, and thyroid surgery. Radioiodine therapy is the most common treatment for Graves disease in the United States. Graves disease is often diagnosed and treated by an endocrinologista doctor who specializes in the bodys hormone- secreting glands. Radioiodine Therapy
In radioiodine therapy, patients take radioactive iodine-131 by mouth. Because the thyroid gland collects iodine to make thyroid hormone, it will collect the radioactive iodine from the bloodstream in the same way. Iodine-131stronger than the radioactive iodine used in diagnostic testsgradually destroys the cells that make up the thyroid gland but does not affect other body tissues.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Landau-Kleffner Syndrome ? ### Doctor:
The NINDS supports broad and varied programs of research on epilepsy and developmental disorders. This research is aimed at discovering new ways to prevent, diagnose, and treat epilepsy and developmental disorders and, ultimately, to find cures for them.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Central Cord Syndrome ? ### Doctor:
There is no cure for central cord syndrome although some people recover near-normal function. There is no standard course of treatment, although drug therapy, surgery, and rest are often part of the program. Magnetic resonance imaging (MRI) is used to indicate the degree of spinal cord compression and vertebral instability. Vertebral instability due to acute traumatic injury or cervical disc herniation is often treated by surgery to prevent further damage to the spinal cord. Recent reports indicate that earlier surgery may improve chances for recovery. Numerous recent studies suggest that surgery also can be beneficial in individuals with persistent compression of the spinal cord and ongoing neurological deterioration.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
How to diagnose Amyloidosis corneal ? ### Doctor:
Is genetic testing available for lattice corneal dystrophy? Yes. GeneTests lists the names of laboratories that are performing genetic testing for lattice corneal dystrophy. Most of the laboratories listed through GeneTests do not accept direct contact from patients and their families; therefore, if you are interested in learning more, you will need to work with a health care provider or a genetics professional. To view the contact information for the clinical laboratories, conducting testing for lattice dystrophy type 1 and 3a click here. To access the contact information for the research laboratories performing genetic testing for lattice dystrophy type 3 click here.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is isolated lissencephaly sequence inherited ? ### Doctor:
The inheritance pattern of ILS depends on the gene involved. When ILS is caused by mutations in the PAFAH1B1 or TUBA1A gene, it is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new mutations in the gene and occur in people with no history of the disorder in their family. When mutations in the DCX gene cause ILS, it is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the DCX gene in each cell is sufficient to cause the condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Waardenburg syndrome ? ### Doctor:
Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. The hearing loss is present from birth (congenital). People with this condition often have very pale blue eyes or different colored eyes, such as one blue eye and one brown eye. Sometimes one eye has segments of two different colors. Distinctive hair coloring (such as a patch of white hair or hair that prematurely turns gray) is another common sign of the condition. The features of Waardenburg syndrome vary among affected individuals, even among people in the same family. The four known types of Waardenburg syndrome are distinguished by their physical characteristics and sometimes by their genetic cause.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Catamenial pneumothorax ? ### Doctor:
Catamenial pneumothorax is an extremely rare condition that affects women. Pneumothorax is the medical term for a collapsed lung, a condition in which air or gas is trapped in the space surrounding the lungs causing the lungs to collapse. Women with catamenial pneumothorax have recurrent episodes of pneumothorax that occur within 72 hours before or after the start of menstruation. The exact cause of catamenial pneumothorax is unknown and several theories have been proposed. Many cases are associated with the abnormal development of endometrial tissue outside of the uterus (endometriosis). Some believe that catamenial pneumothorax is the most common form of thoracic endometriosis (a condition in which the endometrial tissue grows in or around the lungs). A diagnosis of catamenial pneumothorax is usually suspected when a woman of reproductive age and with endometriosis has episodes of pneumothorax.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Langerhans Cell Histiocytosis ? ### Doctor:
Key Points
- There are different types of treatment for patients with Langerhans cell histiocytosis (LCH). - Children with LCH should have their treatment planned by a team of health care providers who are experts in treating childhood cancer. - Some cancer treatments cause side effects months or years after treatment for childhood cancer has ended. - Nine types of standard treatment are used: - Chemotherapy - Surgery - Radiation therapy - Photodynamic therapy - Biologic therapy - Targeted therapy - Other drug therapy - Stem cell transplant - Observation - New types of treatment are being tested in clinical trials. - Patients may want to think about taking part in a clinical trial.
|
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Malaria ? ### Doctor:
What are the signs and symptoms of Malaria? The Human Phenotype Ontology provides the following list of signs and symptoms for Malaria. 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 - 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.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to recurrent hydatidiform mole ? ### Doctor:
Mutations in the NLRP7 or KHDC3L gene can cause recurrent hydatidiform mole, with NLRP7 gene mutations being the most common cause. Within egg cells (oocytes), both the NLRP7 and KHDC3L proteins are thought to play a role in turning off (inactivating) certain genes based on which parent the copy of the gene came from, a phenomenon known as genomic imprinting. For most genes, both copies of the gene (one copy inherited from each parent) are active in all cells. For a small subset of genes, however, only one of the two copies is active; for some of these genes, the copy from the father is normally active, while for others, the copy from the mother is normally active. The NLRP7 and KHDC3L proteins are likely involved in imprinting multiple maternal genes in oocytes, ensuring that they will be inactive in the developing embryo; the corresponding paternal genes are active.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the symptoms of Ectodermal dysplasia adrenal cyst ? ### Doctor:
What are the signs and symptoms of Ectodermal dysplasia adrenal cyst? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia adrenal cyst. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Abnormality of the endocrine system - Autosomal dominant inheritance - Breast hypoplasia - Delayed eruption of teeth - Ectodermal dysplasia - Hypohidrosis - Hypoplastic nipples - Nail dysplasia - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
what research (or clinical trials) is being done for Sotos Syndrome ? ### Doctor:
The NINDS supports and conducts a wide range of studies which focus on identifying and learning more about the genes involved in normal brain development. The knowledge gained from these fundamental studies provides the foundation for understanding how this process can go awry and, thus, may eventually give clues to understanding disorders such as Sotos syndrome.
|
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