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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 Cutaneous mastocytosis ? ### Doctor:
What are the signs and symptoms of Cutaneous mastocytosis? Cutaneous mastocytosis is a form of mastocytosis that primarily affects the skin. There are three main forms that vary in severity: maculopapular cutaneous mastocytosis (also called urticaria pigmentosa), solitary cutaneous mastocytoma, and diffuse cutaneous mastocytosis. There is also an exteremely rare form called telangiectasia macularis eruptiva perstans. Maculopapular cutaneous mastocytosis, the most common form of cutaneous mastocytosis, is characterized by itchy, brown patches on the skin. Although these patches may be mistaken for freckles or bug bites initially, they typically persist and gradually increase in number over several months to years. In young children, the patches may form a blister if itched or rubbed.
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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) Stroke ? ### Doctor:
The most commonly used imaging procedure is the computed tomography or CT scan, also known as a CAT scan. A CT scan is comprised of a series of cross-sectional images of the head and brain. Because it is readily available at all hours at most major hospitals, produces images quickly, and is good for ruling out hemorrhage prior to starting thrombolytic therapy, CT is the most widely used diagnostic imaging technique for acute stroke. A CT scan may show evidence of early ischemia an area of tissue that is dead or dying due to a loss of blood supply. Ischemic strokes generally show up on a CT scan about six to eight hours after the start of stroke 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 Progressive supranuclear palsy atypical ? ### Doctor:
What are the signs and symptoms of Progressive supranuclear palsy atypical? The Human Phenotype Ontology provides the following list of signs and symptoms for Progressive supranuclear palsy atypical. 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 pyramidal signs - Adult onset - Dementia - Kyphoscoliosis - Morphological abnormality of the pyramidal tract - Ophthalmoparesis - Parkinsonism - Rigidity - Tremor - 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 treatments for spastic paraplegia type 31 ? ### Doctor:
These resources address the diagnosis or management of spastic paraplegia type 31: - Gene Review: Gene Review: Hereditary Spastic Paraplegia Overview - Genetic Testing Registry: Spastic paraplegia 31, autosomal dominant - Spastic Paraplegia Foundation, Inc.: Treatments and Therapies 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) Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia ? ### Doctor:
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare condition in which cells called neuroendocrine cells spread and cluster in the small airways of the lungs. The majority of affected individuals are middled-aged women. Symptoms include shortness of breath and coughing. It is considered to be a precursor for pulmonary carcinoid tumors. Because so few cases have been reported in the medical literature, there is limited information on the prognosis and management of this 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 essential thrombocythemia ? ### Doctor:
These resources address the diagnosis or management of essential thrombocythemia: - Cleveland Clinic: Thrombocytosis - Genetic Testing Registry: Essential thrombocythemia - Merck Manual for Health Care Professionals: Essential Thrombocythemia 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:
How to diagnose Dihydropyrimidine dehydrogenase deficiency ? ### Doctor:
How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, which has led to the development of a radioenzymatic test for the DPD enzyme. This test has remained the gold standard for diagnosing DPD deficiency even after the development of genetic testing for the condition, because of the complexity of the DPYD gene and the presence of multiple DNA sequence variations present in most affected individuals. Various types of cells and tissues can be examined this way. More recently, a rapid, noninvasive, and cost-effective breath test was developed.
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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 Hereditary sensory and autonomic neuropathy type V ? ### Doctor:
What are the signs and symptoms of Hereditary sensory and autonomic neuropathy type V? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary sensory and autonomic neuropathy type V. 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) Anhidrosis 7.5% Episodic fever 5% Intellectual disability, mild 5% Acral ulceration and osteomyelitis leading to autoamputation of digits - Acral ulceration and osteomyelitis leading to autoamputation of the digits (feet) - Autosomal recessive inheritance - Infantile onset - Pain insensitivity - Painless fractures due to injury - Self-mutilation - 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:
Who is at risk for Adult Acute Myeloid Leukemia? ? ### Doctor:
Smoking, previous chemotherapy treatment, and exposure to radiation may affect the risk of adult AML. Anything that increases your risk of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesnt mean that you will not get cancer. Talk with your doctor if you think you may be at risk. Possible risk factors for AML include the following: - Being male. - Smoking, especially after age 60. - Having had treatment with chemotherapy or radiation therapy in the past. - Having had treatment for childhood acute lymphoblastic leukemia (ALL) in the past. - Being exposed to radiation from an atomic bomb or to the chemical benzene. - Having a history of a blood disorder such as myelodysplastic syndrome.
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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 Ribbing disease ? ### Doctor:
What are the signs and symptoms of Ribbing disease? The Human Phenotype Ontology provides the following list of signs and symptoms for Ribbing 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) Autosomal recessive inheritance - Diaphyseal sclerosis - 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:
How to diagnose 21-hydroxylase deficiency ? ### Doctor:
Is genetic testing for 21-hydroxylase-deficient congenital adrenal hyperplasia available? Yes. Genetic testing of 21-hydroxylase-deficient congenital adrenal hyperplasia is available. In most people with this condition, the genetic test result can be used to predict disease severity. Click here to view a list of laboratories offering CYP21A2 testing.
|
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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 uromodulin-associated kidney disease ? ### Doctor:
Mutations in the UMOD gene cause uromodulin-associated kidney disease. This gene provides instructions for making the uromodulin protein, which is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. Researchers have suggested that uromodulin may protect against urinary tract infections. It may also help control the amount of water in urine. Most mutations in the UMOD gene change single protein building blocks (amino acids) used to make uromodulin. These mutations alter the structure of the protein, preventing its release from kidney cells. Abnormal buildup of uromodulin may trigger the self-destruction (apoptosis) of cells in the kidneys, causing progressive kidney 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:
Is Rubinstein-Taybi syndrome inherited ? ### Doctor:
This condition is considered to have an autosomal dominant pattern of inheritance, 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:
What are the symptoms of Ehlers-Danlos syndrome ? ### Doctor:
What are the signs and symptoms of Ehlers-Danlos syndrome? There are six major types of Ehlers-Danlos syndrome (EDS). Although there is significant overlap in associated features, the subtypes are classified based on their unique signs and symptoms: Hypermobility type - characterized primarily by joint hypermobility affecting both large (elbows, knees) and small (fingers, toes) joints which may lead to recurrent joint dislocations and subluxations (partial dislocation). Affected people generally experience skin involvement (soft, smooth and velvety skin with easy bruising) and chronic pain of the muscles and/or bones, as well. Classic type - associated with extremely elastic (stretchy), smooth skin that is fragile and bruises easily; wide, atrophic scars (flat or depressed scars); and joint hypermobility.
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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 Fanconi like syndrome ? ### Doctor:
What are the signs and symptoms of Fanconi like syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Fanconi like 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) Autosomal recessive inheritance - Multiple bilateral pneumothoraces - Multiple cutaneous malignancies - Osteomyelitis - Pancytopenia - Recurrent lower respiratory tract infections - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database.
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What are the treatments for Aphasia ? ### Doctor:
In some instances, an individual will completely recover from aphasia without treatment. In most cases, however, language therapy should begin as soon as possible and be tailored to the individual needs of the person. Rehabilitation with a speech pathologist involves extensive exercises in which individuals read, write, follow directions, and repeat what they hear. Computer-aided therapy may supplement standard language therapy.
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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 What I need to know about Diverticular Disease ? ### Doctor:
The symptoms for diverticulosis and diverticulitis are different. Diverticulosis. Many people don't have symptoms, but some people have cramping, bloating, and constipation. Some people also have bleeding, inflammation, and fistulas. If you are bleeding, bright red blood will pass through your rectum. The rectum is the end of the colon that connects to the anus. The rectum and anus are part of the gastrointestinal tract, which is the passage that food goes through. Rectal bleeding is usually painless, but it can be dangerous. You should see a doctor right away. Diverticulitis. People with diverticulitis can have many symptoms. Often pain is felt in the lower part of the abdomen. If you have diverticulitis, you may have fevers, feel sick to your stomach, vomit, or have a change in your bowel habits.
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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) Creatinine ? ### Doctor:
Creatinine is a waste product in your blood. It comes from protein in your diet and the normal breakdown of muscles of your body. Creatinine is removed from blood by the kidneys and then passes out of the body in your urine. If you have kidney disease, the level of creatinine in your blood increases. Blood (serum) and urine tests can check your creatinine levels. The tests are done to check how well your kidneys are working. NIH: National Institute of Diabetes and Digestive and Kidney Diseases
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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 Glaucoma ? ### Doctor:
Although open-angle glaucoma cannot be cured, it can usually be controlled. While treatments may save remaining vision, they do not improve sight already lost from glaucoma. The most common treatments for glaucoma are medication and surgery. Medications Medications for glaucoma may be either in the form of eye drops or pills. Some drugs reduce pressure by slowing the flow of fluid into the eye. Others help to improve fluid drainage. (Watch the video to learn more about coping with glaucoma. To enlarge the video, click the brackets in the lower right-hand corner. To reduce the video, press the Escape (Esc) button on your keyboard.) For most people with glaucoma, regular use of medications will control the increased fluid pressure. But, these drugs may stop working over time.
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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 Warm antibody hemolytic anemia ? ### Doctor:
What are the signs and symptoms of Warm antibody hemolytic anemia? The Human Phenotype Ontology provides the following list of signs and symptoms for Warm antibody hemolytic anemia. 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 erythrocytes 90% Autoimmunity 90% Migraine 90% Pallor 90% Arthralgia 50% Hematological neoplasm 50% Skin rash 50% Abnormality of temperature regulation 7.5% Abnormality of the liver 7.5% Abnormality of urine homeostasis 7.5% Arrhythmia 7.5% Congestive heart failure 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:
Who is at risk for Angina? ? ### Doctor:
Angina is a symptom of an underlying heart problem. Its usually a symptom of coronary heart disease (CHD), but it also can be a symptom of coronary microvascular disease (MVD). So, if youre at risk for CHD or coronary MVD, youre also at risk for angina. The major risk factors for CHD and coronary MVD include:
Unhealthy cholesterol levels. High blood pressure. Smoking. Insulin resistance or diabetes. Overweight or obesity. Metabolic syndrome. Lack of physical activity. Unhealthy diet. Older age. (The risk increases for men after 45 years of age and for women after 55 years of age.) Family history of early heart disease. For more detailed information about CHD and coronary MVD risk factors, visit the Diseases and Conditions Index Coronary Heart Disease, Coronary Heart Disease Risk Factors, and Coronary Microvascular Disease articles.
|
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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 Denys-Drash syndrome ? ### Doctor:
Mutations in the WT1 gene cause Denys-Drash syndrome. The WT1 gene provides instructions for making a protein that regulates the activity of other genes by attaching (binding) to specific regions of DNA. On the basis of this action, the WT1 protein is called a transcription factor. The WT1 protein plays a role in the development of the kidneys and kidneys and gonads (ovaries in females and testes in males) before birth. WT1 gene mutations that cause Denys-Drash syndrome lead to the production of an abnormal protein that cannot bind to DNA. As a result, the activity of certain genes is unregulated, which impairs the development of the kidneys and reproductive organs. Abnormal development of these organs leads to diffuse glomerulosclerosis and gonadal dysgenesis, which are characteristic of Denys-Drash syndrome.
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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 prostate cancer ? ### Doctor:
Cancers occur when genetic mutations build up in critical genes, specifically those that control cell growth and division or the repair of damaged DNA. These changes allow cells to grow and divide uncontrollably to form a tumor. In most cases of prostate cancer, these genetic changes are acquired during a man's lifetime and are present only in certain cells in the prostate. These changes, which are called somatic mutations, are not inherited. Somatic mutations in many different genes have been found in prostate cancer cells. Less commonly, genetic changes present in essentially all of the body's cells increase the risk of developing prostate cancer. These genetic changes, which are classified as germline mutations, are usually inherited from a parent.
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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) Bedbugs ? ### Doctor:
Bedbugs bite you and feed on your blood. You may have no reaction to the bites, or you may have small marks or itching. Severe allergic reactions are rare. Bedbugs don't transmit or spread diseases. Adult bedbugs are brown, 1/4 to 3/8 inch long, and have a flat, oval-shaped body. Young bedbugs (called nymphs) are smaller and lighter in color. Bedbugs hide in a variety of places around the bed. They might also hide in the seams of chairs and couches, between cushions, and in the folds of curtains. They come out to feed about every five to ten days. But they can survive over a year without feeding. To prevent bedbugs in your home: - Check secondhand furniture for any signs of bedbugs before bringing it home. - Use a protective cover that encases mattresses and box springs. Check it regularly for holes.
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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 neuroferritinopathy ? ### Doctor:
These resources address the diagnosis or management of neuroferritinopathy: - Gene Review: Gene Review: Neuroferritinopathy - Genetic Testing Registry: Neuroferritinopathy 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 genetic changes related to nemaline myopathy ? ### Doctor:
Mutations in one of many genes can cause nemaline myopathy. These genes provide instructions for producing proteins that play important roles in skeletal muscles. Within skeletal muscle cells, these proteins are found in structures called sarcomeres. Sarcomeres are necessary for muscles to tense (contract). Many of the proteins associated with nemaline myopathy interact within the sarcomere to facilitate muscle contraction. When the skeletal muscle cells of people with nemaline myopathy are stained and viewed under a microscope, these cells usually appear abnormal. These abnormal muscle cells contain rod-like structures called nemaline bodies. Most cases of nemaline myopathy with a known genetic cause result from mutations in one of two genes, NEB or ACTA1.
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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 Bone dysplasia lethal Holmgren type ? ### Doctor:
What are the signs and symptoms of Bone dysplasia lethal Holmgren type? The Human Phenotype Ontology provides the following list of signs and symptoms for Bone dysplasia lethal Holmgren type. 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 femur 90% Abnormality of the ribs 90% Micromelia 90% Narrow chest 90% Short stature 90% Skeletal dysplasia 90% Weight loss 90% Abnormal diaphysis morphology 50% Abnormality of epiphysis morphology 50% Abnormality of the elbow 50% Abnormality of the metaphyses 50% Abnormality of the thumb 50% Anteverted nares 50% Depressed nasal ridge 50% Frontal bossing 50% Hearing abnormality 50% High forehead 50% Joint dislocation 50% Joint hypermobility 50% Malar flattening 50% Muscular hypotonia 50% Short neck 50% Abnormality of the skin 7.5% Anemia 7.5% Atria septal defect 7.5% Diarrhea 7.5% Hepatomegaly 7.5% Hernia 7.5% Hypertrophic cardiomyopathy 7.5% Nausea and vomiting 7.5% Patent ductus arteriosus 7.5% Recurrent respiratory infections 7.5% Respiratory insufficiency 7.5% Talipes 7.5% Thickened nuchal skin fold 7.5% Autosomal recessive inheritance - Bell-shaped thorax - Short ribs - 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 treatments for Sacrococcygeal Teratoma ? ### Doctor:
How might a sacrococcygeal teratoma be treated? The treatment for sacrococcygeal teratoma (SCT) typically involves surgery to remove the tumor. Surgery occurs either in the prenatal period or shortly after delivery. The timing is dependent on the size of the tumor and the associated symptoms. To learn more about both prenatal and postnatal surgery for SCT, visit the following links from The Children's Hospital of Philadelphia (CHOP) http://www.chop.edu/treatments/fetal-surgery-sacrococcygeal-teratoma-sct/about#.VqGW_PkrJD8 http://www.chop.edu/treatments/postnatal-surgery-sacrococcygeal-teratoma-sct#.VqGX7vkrJD8
|
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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) Spondylocostal dysostosis 1 ? ### Doctor:
Spondylocostal dysostosis is a group of conditions characterized by abnormal development of the bones in the spine and ribs. In the spine, the vertebrae are misshapen and fused. Many people with this condition have an abnormal side-to-side curvature of the spine (scoliosis). The ribs may be fused together or missing. These bone malformations lead to short, rigid necks and short midsections. Infants with spondylocostal dysostosis have small, narrow chests that cannot fully expand. This can lead to life-threatening breathing problems. Males with this condition are at an increased risk for inguinal hernia, where the diaphragm is pushed down, causing the abdomen to bulge out. There are several types of spondylocostal dysostosis. These types have similar features and are distinguished by their genetic cause and how they are 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:
What is (are) Twins, Triplets, Multiple Births ? ### Doctor:
If you are pregnant with more than one baby, you are far from alone. Multiple births are up in the United States. More women are having babies after age 30 and more are taking fertility drugs. Both boost the chance of carrying more than one baby. A family history of twins also makes multiples more likely. Years ago, most twins came as a surprise. Now, most women know about a multiple pregnancy early. Women with multiple pregnancies should see their health care providers more often than women who are expecting one baby. Multiple pregnancy babies have a much higher risk of being born prematurely and having a low birth weight. There is also more of a risk of disabilities. Some women have to go on bed rest to delay labor. Finally, they may deliver by C-section, especially if there are three babies or more.
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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 Financial Help for Diabetes Care ? ### Doctor:
Diabetes management and treatment is expensive. According to the American Diabetes Association (ADA), the average cost of health care for a person with diabetes is $13,741 a yearmore than twice the cost of health care for a person without diabetes.1
Many people who have diabetes need help paying for their care. For those who qualify, a variety of government and nongovernment programs can help cover health care expenses. This publication is meant to help people with diabetes and their family members find and access such resources.
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what research (or clinical trials) is being done for Transmissible Spongiform Encephalopathies ? ### Doctor:
The NINDS conducts and supports research on TSEs. This research is aimed at determining how abnormal prion proteins lead to disease, at finding better tests for diagnosing CJD and other disorders, and ultimately at finding ways to treat TSEs.
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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 autosomal dominant partial epilepsy with auditory features ? ### Doctor:
These resources address the diagnosis or management of ADPEAF: - Gene Review: Gene Review: Autosomal Dominant Partial Epilepsy with Auditory Features - Genetic Testing Registry: Epilepsy, lateral temporal lobe, autosomal dominant - MedlinePlus Encyclopedia: Partial (Focal) Seizure - MedlinePlus Encyclopedia: Seizures 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 galactosialidosis ? ### Doctor:
These resources address the diagnosis or management of galactosialidosis: - Genetic Testing Registry: Combined deficiency of sialidase AND beta galactosidase - MedlinePlus Encyclopedia: Hepatosplenomegaly (image) - MedlinePlus Encyclopedia: Hydrops fetalis 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) leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation ? ### Doctor:
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord. Leukoencephalopathy refers to abnormalities in the white matter of the brain, which is tissue containing nerve cell fibers (axons) that transmit nerve impulses. Most affected individuals begin to develop movement problems during childhood or adolescence. However, in some individuals, these problems do not develop until adulthood. People with LBSL have abnormal muscle stiffness (spasticity) and difficulty with coordinating movements (ataxia). In addition, affected individuals lose the ability to sense the position of their limbs or vibrations with their limbs.
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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 Branchiooculofacial syndrome ? ### Doctor:
How is branchiooculofacial syndrome (BOFS) diagnosed? BOFS can be diagnosed clinically based on the characteristic features of this condition. Genetic testing can also confirm the diagnosis. GeneTests lists the names of laboratories that are performing genetic testing for branchiooculofacial syndrome. To view the contact information for the clinical laboratories conducting testing, click here. To access the contact information for the research laboratories performing genetic testing, click here. Please note: 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.
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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 Adult Acute Myeloid Leukemia ? ### Doctor:
Certain factors affect prognosis (chance of recovery) and treatment options. The prognosis (chance of recovery) and treatment options depend on: - The age of the patient. - The subtype of AML. - Whether the patient received chemotherapy in the past to treat a different cancer. - Whether there is a history of a blood disorder such as myelodysplastic syndrome. - Whether the cancer has spread to the central nervous system. - Whether the cancer has been treated before or recurred (come back). It is important that acute leukemia be treated right away.
|
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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 Leigh syndrome, French Canadian type ? ### Doctor:
What are the signs and symptoms of Leigh syndrome, French Canadian type? The Human Phenotype Ontology provides the following list of signs and symptoms for Leigh syndrome, French Canadian type. 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) Seizures 5% Anteverted nares - Ataxia - Autosomal recessive inheritance - CNS demyelination - Delayed speech and language development - Failure to thrive - Gliosis - Highly arched eyebrow - Hirsutism - Hyperglycemia - Hypertelorism - Hypoglycemia - Hypoplasia of midface - Increased CSF lactate - Increased hepatocellular lipid droplets - Increased serum lactate - Infantile onset - Lactic acidosis - Low anterior hairline - Malar flattening - Microvesicular hepatic steatosis - Muscular hypotonia - Peripheral demyelination - Prominent forehead - Strabismus - Tachypnea - Tremor - Wide nasal bridge - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition.
|
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What is (are) Leukemia ? ### Doctor:
Leukemia is a cancer of the blood cells. It usually begins in the bone marrow where blood cells are formed. In leukemia, the bone marrow produces abnormal white blood cells. Over time, as the number of abnormal white blood cells builds up in the blood, they crowd out healthy blood cells. This makes it difficult for the blood to carry out its normal functions.
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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 hypohidrotic ectodermal dysplasia ? ### Doctor:
Mutations in the EDA, EDAR, and EDARADD genes cause hypohidrotic ectodermal dysplasia. The EDA, EDAR, and EDARADD genes provide instructions for making proteins that work together during embryonic development. These proteins form part of a signaling pathway that is critical for the interaction between two cell layers, the ectoderm and the mesoderm. In the early embryo, these cell layers form the basis for many of the body's organs and tissues. Ectoderm-mesoderm interactions are essential for the formation of several structures that arise from the ectoderm, including the skin, hair, nails, teeth, and sweat glands. Mutations in the EDA, EDAR, or EDARADD gene prevent normal interactions between the ectoderm and the mesoderm and impair the normal development of hair, sweat glands, and teeth.
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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) Rh Incompatibility ? ### Doctor:
There are four major blood types: A, B, O, and AB. The types are based on substances on the surface of the blood cells. Another blood type is called Rh. Rh factor is a protein on red blood cells. Most people are Rh-positive; they have Rh factor. Rh-negative people don't have it. Rh factor is inherited though genes. When you're pregnant, blood from your baby can cross into your bloodstream, especially during delivery. If you're Rh-negative and your baby is Rh-positive, your body will react to the baby's blood as a foreign substance. It will create antibodies (proteins) against the baby's blood. These antibodies usually don't cause problems during a first pregnancy. But Rh incompatibility may cause problems in later pregnancies, if the baby is Rh-positive. This is because the antibodies stay in your body once they have formed.
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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 Phacomatosis pigmentovascularis ? ### Doctor:
What causes phacomatosis pigmentovascularis? Phacomatosis pigmentovascularis (PPV) is thought to occur as a result of a change in the arrangement of a small piece of genetic material in a developing embryo. Because of this change some of the baby's body cells carry two copies of recessive gene mutations while the majority of his or her body cells carry only one. Having two copies of the recessive gene mutations result in a diseased cell (and symptoms of PPV). This phenomenon is called twin spotting. PPV occurs by chance, it is not inherited, and affects only a subset of the body's cells. As a result risk to future offspring is very small.
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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) BRCA2 hereditary breast and ovarian cancer syndrome ? ### Doctor:
BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer. Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations) in the BRCA2 gene and is inherited in an autosomal dominant manner.
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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 Hemochromatosis ? ### Doctor:
Hemochromatosis can affect many parts of the body and cause various signs and symptoms. Many of the signs and symptoms are similar to those of other diseases. Signs and symptoms of hemochromatosis usually don't occur until middle age. Women are more likely to have general symptoms first, such as fatigue (tiredness). In men, complications such as diabetes or cirrhosis (scarring of the liver) often are the first signs of the disease. Signs and symptoms also vary based on the severity of the disease. Common signs and symptoms of hemochromatosis include joint pain, fatigue, general weakness, weight loss, and stomach pain. Not everyone who has hemochromatosis has signs or symptoms of the disease. Estimates of how many people develop signs and symptoms vary greatly.
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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 Keratosis follicularis spinulosa decalvans ? ### Doctor:
What are the signs and symptoms of Keratosis follicularis spinulosa decalvans? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis follicularis spinulosa decalvans. 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) Alopecia 90% Aplasia/Hypoplasia of the eyebrow 90% Hyperkeratosis 90% Ichthyosis 90% Abnormality of the fingernails 50% Blepharitis 50% Myopia 50% Opacification of the corneal stroma 50% Retinal detachment 50% Abnormality of dental color 7.5% Abnormality of dental enamel 7.5% Carious teeth 7.5% Eczema 7.5% Conjunctivitis - Corneal dystrophy - Dry skin - Dystrophic fingernails - Ectropion - Facial erythema - Follicular hyperkeratosis - Heterogeneous - Keratitis - Nail dysplasia - Palmoplantar keratoderma - Perifollicular fibrosis - Photophobia - Scarring alopecia of scalp - Sparse eyebrow - Sparse eyelashes - X-linked recessive inheritance - 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:
How many people are affected by malignant migrating partial seizures of infancy ? ### Doctor:
MMPSI is a rare condition. Although its prevalence is unknown, approximately 100 cases have been described in the medical literature.
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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 Crohn's Disease? ? ### Doctor:
Both men and women can get Crohn's disease, and it can run in families. People with Crohns disease may have a blood relative with the disease or another type of IBD. Crohns disease most commonly starts between the ages of 13 and 30.
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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) dentatorubral-pallidoluysian atrophy ? ### Doctor:
Dentatorubral-pallidoluysian atrophy, commonly known as DRPLA, is a progressive brain disorder that causes involuntary movements, mental and emotional problems, and a decline in thinking ability. The average age of onset of DRPLA is 30 years, but this condition can appear anytime from infancy to mid-adulthood. The signs and symptoms of DRPLA differ somewhat between affected children and adults. When DRPLA appears before age 20, it most often involves episodes of involuntary muscle jerking or twitching (myoclonus), seizures, behavioral changes, intellectual disability, and problems with balance and coordination (ataxia). When DRPLA begins after age 20, the most frequent signs and symptoms are ataxia, uncontrollable movements of the limbs (choreoathetosis), psychiatric symptoms such as delusions, and deterioration of intellectual function (dementia).
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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 Parasites - Zoonotic Hookworm ? ### Doctor:
The zoonotic hookworm larvae that cause cutaneous larva migrans (CLM) usually do not survive more than 5 – 6 weeks in the human host. In most patients with CLM, the signs and symptoms resolve without medical treatment. However, treatment may help control symptoms and help prevent secondary bacterial infections. Antiparasitic treatments may be prescribed by your health care provider. More on: Resources For Health Professionals: Treatment
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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 Craniometaphyseal dysplasia, autosomal recessive type ? ### Doctor:
What causes autosomal recessive craniometaphyseal dysplasia? Autosomal recessive craniometaphyseal dysplasia is caused by mutations in the GJA1 gene. The GJA1 gene provides instructions for making a protein called connexin43, which is one of 21 connexin proteins in humans. Connexins lay a role in cell-to-cell communication by forming channels, or gap junctions, between cells. Gap junctions allow for the transport of nutrients, charged particles (ions), and other small molecules that carry necessary communication signals between cells. Connexin43 is found in many human tissues, including eyes, skin, bine, ears, heart, and brain. Mutations in the GJA1 gene that cause autosomal recessive craniometaphyseal dysplasia appear to disrupt bone remodeling.
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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 X-linked congenital stationary night blindness ? ### Doctor:
The prevalence of this condition is unknown. It appears to be more common in people of Dutch-German Mennonite descent. However, this disorder has been reported in families with many different ethnic backgrounds. The incomplete form is more common than the complete form.
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What to do for What I need to know about Lactose Intolerance ? ### Doctor:
Talk with your doctor about your dietary plan. A dietary plan can help you manage the symptoms of lactose intolerance and get enough nutrients. If you have a child with lactose intolerance, follow the diet plan that your childs doctor recommends. Milk and milk products. You may be able to have milk and milk products without symptoms if you
- drink small amounts of milkhalf a cup or lessat a time - drink small amounts of milk with meals, such as having milk with cereal or having cheese with crackers - add small amounts of milk and milk products to your diet a little at a time and see how you feel - eat milk products that are easier for people with lactose intolerance to break down: - yogurt - hard cheeses such as cheddar and Swiss
Lactose-free and lactose-reduced milk and milk products.
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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) oculofaciocardiodental syndrome ? ### Doctor:
Oculofaciocardiodental (OFCD) syndrome is a condition that affects the development of the eyes (oculo-), facial features (facio-), heart (cardio-) and teeth (dental). This condition occurs only in females. The eye abnormalities associated with OFCD syndrome can affect one or both eyes. Many people with this condition are born with eyeballs that are abnormally small (microphthalmia). Other eye problems can include clouding of the lens (cataract) and a higher risk of glaucoma, an eye disease that increases the pressure in the eye. These abnormalities can lead to vision loss or blindness. People with OFCD syndrome often have a long, narrow face with distinctive facial features, including deep-set eyes and a broad nasal tip that is divided by a cleft. Some affected people have an opening in the roof of the mouth called a cleft palate.
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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 Kidney Disease ? ### Doctor:
Different Treatments for Different Stages There are several types of treatments related to kidney disease. Some are used in earlier stages of kidney disease to protect your kidneys. These medications and lifestyle changes help you maintain kidney function and delay kidney failure. Other treatments, such as dialysis and transplantation, are used to treat kidney failure. These methods help replace kidney function if your own kidneys have stopped working. Treatments for Early Kidney Disease Treatments for early kidney disease include both diet and lifestyle changes and medications. - Making heart-healthy food choices and exercising regularly to maintain a healthy weight can help prevent the diseases that cause further kidney damage. - If you already have diabetes and/or high blood pressure, keeping these conditions under control can keep them from causing further damage to your kidneys.
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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) Brachial Plexus Injuries ? ### Doctor:
The brachial plexus is a network of nerves that conducts signals from the spine to the shoulder, arm, and hand. Brachial plexus injuries are caused by damage to those nerves. Symptoms may include a limp or paralyzed arm; lack of muscle control in the arm, hand, or wrist; and a lack of feeling or sensation in the arm or hand. Brachial plexus injuries can occur as a result of shoulder trauma, tumors, or inflammation. There is a rare syndrome called Parsonage-Turner Syndrome, or brachial plexitis, which causes inflammation of the brachial plexus without any obvious shoulder injury. This syndrome can begin with severe shoulder or arm pain followed by weakness and numbness. In infants, brachial plexus injuries may happen during birth if the babys shoulder is stretched during passage in the birth canal (see Brachial Plexus Birth Injuries).
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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 Majeed syndrome ? ### Doctor:
What are the signs and symptoms of Majeed syndrome? Majeed syndrome is characterized by recurrent episodes of fever and inflammation in the bones and skin. There are two main features of Majeed syndrome: Chronic recurrent multifocal osteomyelitis (CRMO), an inflammatory bone condition which causes recurrent episodes of pain and joint swelling. These symptoms begin in infancy or early childhood and typically persist into adulthood, although there may be short periods of improvement. CRMO can lead to complications such as slow growth and the development of joint deformities called contractures, which restrict the movement of certain joints. Congenital dyserythropoietic anemia is a blood disorder which involve a shortage of red blood cells. Without enough of these cells, the blood cannot carry an adequate supply of oxygen to the body's 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 are the symptoms of Split hand/foot malformation X-linked ? ### Doctor:
What are the signs and symptoms of Split hand/foot malformation X-linked? The Human Phenotype Ontology provides the following list of signs and symptoms for Split hand/foot malformation X-linked. 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) Finger syndactyly - Short metacarpal - Short phalanx of finger - Split foot - Split hand - X-linked 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.
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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 Peutz-Jeghers syndrome inherited ? ### Doctor:
Is Peutz-Jeghers syndrome inherited? Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner. This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.
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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 Polycystic Kidney Disease ? ### Doctor:
A gene mutation, or defect, causes polycystic kidney disease. Genes provide instructions for making proteins in the body. A gene mutation is a permanent change in the deoxyribonucleic acid (DNA) sequence that makes up a gene. In most cases of PKD, a person inherits the gene mutation, meaning a parent passes it on in his or her genes. In the remaining cases, the gene mutation develops spontaneously. In spontaneous cases, neither parent carries a copy of the mutated gene. Researchers have found three different gene mutations associated with PKD. Two of the genes are associated with autosomal dominant PKD. The third gene is associated with autosomal recessive PKD. Gene mutations that cause PKD affect proteins that play a role in kidney development. Genetic Disorders Each cell contains thousands of genes that provide the instructions for making proteins for growth and repair of the body.
|
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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 Neurodegeneration with Brain Iron Accumulation ? ### Doctor:
NBIA is a progressive condition. Most individuals experience periods of rapid decline lasting weeks to months, with relatively stable periods in between. The rate of progression correlates with the age at onset, meaning that children with early symptoms tend to fare more poorly. For those with early onset, dystonia and spasticity can eventually limit the ability to walk, usually leading to use of a wheelchair by the midteens. Life expectancy is variable, although premature death does occur in NBIA. Premature death usually occurs due to secondary complications such as impaired swallowing or confinement to a bed or wheelchair, which can lead to poor nutrition or aspiration pneumonia. With improved medical care, however, a greater number of affected individuals reach adulthood.
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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 recombinant 8 syndrome inherited ? ### Doctor:
This condition is inherited in an autosomal dominant pattern, which means one copy of the recombinant chromosome 8 in each cell is sufficient to cause the disorder. Most people with recombinant 8 syndrome have at least one parent with a change in chromosome 8 called an inversion. An inversion involves the breakage of a chromosome in two places; the resulting piece of DNA is reversed and reinserted into the chromosome. Genetic material is typically not lost as a result of this inversion in chromosome 8, so people usually do not have any related health problems. However, genetic material can be lost or duplicated when inversions are being passed to the next generation. People with this chromosome 8 inversion are at of risk having a child with recombinant 8 syndrome.
|
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What is the outlook for Paroxysmal Choreoathetosis ? ### Doctor:
Generally, paroxysmal choreoathetosis lessens with age, and many adults have a complete remission. Because drug therapy is so effective, the prognosis for the disorder is good.
|
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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 Mitochondrial neurogastrointestinal encephalopathy syndrome ? ### Doctor:
How might mitochondrial neurogastrointestinal encephalopathy syndrome be diagnosed? The clinical diagnosis of mitochondrial neurogastrointestinal encephalopathy syndrome (MNGIE) is based on the presence of severe gastrointestinal dysmotility (when the muscles and nerves of the digestive system do not move food through the digestive tract efficiently), cachexia (wasting away of muscle and fat tissue), ptosis, external ophthalmoplegia (weakness in the muscles that control eye movement), sensorimotor neuropathy, asymptomatic leukoencephalopathy (observed on brain MRI), and a family history consistent with autosomal recessive inheritance. Direct evidence of MNGIE syndrome can be provided by one of the following: A blood test showing an increase in plasma thymidine concentration (greater than 3 mol/L) and an increase in plasma deoxyuridine concentration (greater than 5 mol/L).
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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 Colpocephaly ? ### Doctor:
What causes colpocephaly? Researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. The underlying causes of colpocephaly are multiple and diverse. Causes include chromosomal anomalies such as trisomy-8 mosaicism and trisomy-9 mosaicism; intrauterine infection such as toxoplasmosis; perinatal anoxic-ischemic encephalopathy; and maternal drug ingestion during early pregnancy, such as corticosteroids, salbutamol, and theophylline. In addition, a familial occurrence of colpocephaly has been noted in three reports. A genetic origin with an autosomal recessive or X-linked recessive inheritance was suggested in these familial cases.
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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 Hypocalcemia, autosomal dominant ? ### Doctor:
What are the signs and symptoms of Hypocalcemia, autosomal dominant? The Human Phenotype Ontology provides the following list of signs and symptoms for Hypocalcemia, autosomal dominant. 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) Behavioral abnormality 90% EMG abnormality 90% Flexion contracture 90% Hypercalciuria 90% Hypocalcemia 90% Involuntary movements 90% Paresthesia 90% Abdominal pain 50% Abnormal pattern of respiration 50% Abnormality of the fingernails 50% Alopecia 50% Arrhythmia 50% Dry skin 50% Hyperphosphatemia 50% Hypotension 50% Nephrolithiasis 50% Congestive heart failure 7.5% Eczema 7.5% Increased intracranial pressure 7.5% Irregular hyperpigmentation 7.5% Optic atrophy 7.5% Reduced bone mineral density 7.5% Reduced consciousness/confusion 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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What are the treatments for Winchester syndrome ? ### Doctor:
These resources address the diagnosis or management of Winchester syndrome: - Genetic Testing Registry: Winchester syndrome 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 research (or clinical trials) is being done for Skin Cancer ? ### Doctor:
Cancer prevention clinical trials are used to study ways to prevent cancer. Cancer prevention clinical trials are used to study ways to lower the risk of developing certain types of cancer. Some cancer prevention trials are conducted with healthy people who have not had cancer but who have an increased risk for cancer. Other prevention trials are conducted with people who have had cancer and are trying to prevent another cancer of the same type or to lower their chance of developing a new type of cancer. Other trials are done with healthy volunteers who are not known to have any risk factors for cancer. The purpose of some cancer prevention clinical trials is to find out whether actions people take can prevent cancer. These may include eating fruits and vegetables, exercising, quitting smoking, or taking certain medicines, vitamins, minerals, or food supplements.
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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) Cataract ? ### Doctor:
Yes. There are two types of cataract surgery, phacoemulsification and extracapsular surgery. Your doctor can explain the differences and help determine which is better for you. With phacoemulsification, or phaco, a small incision is made on the side of the cornea, the clear, dome-shaped surface that covers the front of the eye. Your doctor inserts a tiny probe into the eye. This device emits ultrasound waves that soften and break up the lens so that it can be removed by suction. Most cataract surgery today is done by phacoemulsification, also called "small incision cataract surgery." With extracapsular surgery, your doctor makes a longer incision on the side of the cornea and removes the cloudy core of the lens in one piece. The rest of the lens is removed by suction.
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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 Parasites - Toxoplasmosis (Toxoplasma infection)? ? ### Doctor:
Toxoplasmosis is caused by the protozoan parasite Toxoplasma gondii. In the United States it is estimated that 22.5% of the population 12 years and older have been infected with Toxoplasma. In various places throughout the world, it has been shown that up to 95% of some populations have been infected with Toxoplasma. Infection is often highest in areas of the world that have hot, humid climates and lower altitudes. Toxoplasmosis is not passed from person-to-person, except in instances of mother-to-child (congenital) transmission and blood transfusion or organ transplantation. People typically become infected by three principal routes of transmission. Foodborne transmission
The tissue form of the parasite (a microscopic cyst consisting of bradyzoites) can be transmitted to humans by food.
|
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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) congenital leptin deficiency ? ### Doctor:
Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. Affected individuals are of normal weight at birth, but they are constantly hungry and quickly gain weight. Without treatment, the extreme hunger continues and leads to chronic excessive eating (hyperphagia) and obesity. Beginning in early childhood, affected individuals develop abnormal eating behaviors such as fighting with other children over food, hoarding food, and eating in secret. People with congenital leptin deficiency also have hypogonadotropic hypogonadism, which is a condition caused by reduced production of hormones that direct sexual development. Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile).
|
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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 Malonyl-CoA decarboxylase deficiency ? ### Doctor:
What are the signs and symptoms of Malonyl-CoA decarboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Malonyl-CoA decarboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Cognitive impairment 90% Abnormality of the cardiovascular system 50% Constipation 50% Hypoglycemia 50% Muscular hypotonia 50% Seizures 50% Pachygyria 5% Abdominal pain - Autosomal recessive inheritance - Chronic constipation - Diarrhea - Hypertrophic cardiomyopathy - Ketosis - Lactic acidosis - Metabolic acidosis - Short stature - Vomiting - 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) Stuve-Wiedemann syndrome ? ### Doctor:
Stuve-Wiedemann syndrome (STWS) is a congenital bone dysplasia characterized by small stature, congenital bowing of the long bones and other skeletal anomalies. Patients present with serious complications including respiratory and feeding distress and recurrent episodes of unexplained hyperthermia (elevated body temperature). The condition is transmitted in an autosomal recessive fashion and appears to be caused by mutations in the leukemia inhibitory factor receptor gene (LIFR) on chromosome 5p13. The majority of patients die during the neonatal period. The rare survivors develop progressive scoliosis, spontaneous fractures, bowing of the lower limbs, with prominent joints and dysautonomia symptoms, including temperature instability, absent corneal and patellar reflexes, and smooth tongue.
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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 Apraxia ? ### Doctor:
Generally, treatment for individuals with apraxia includes physical, speech,or occupational therapy. If apraxia is a symptom of another disorder, the underlying disorder should be treated.
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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 Chronic Myelogenous Leukemia ? ### Doctor:
Key Points
- After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread. - Chronic myelogenous leukemia has 3 phases. - Chronic phase - Accelerated phase - Blastic phase
After chronic myelogenous leukemia has been diagnosed, tests are done to find out if the cancer has spread. Staging is the process used to find out how far the cancer has spread. There is no standard staging system for chronic myelogenous leukemia (CML). Instead, the disease is classified by phase: chronic phase, accelerated phase, or blastic phase. It is important to know the phase in order to plan treatment. The information from tests and procedures done to detect (find) and diagnose chronic myelogenous leukemia is also used to plan treatment.
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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 carbamoyl phosphate synthetase I deficiency ? ### Doctor:
These resources address the diagnosis or management of carbamoyl phosphate synthetase I deficiency: - Baby's First Test - Gene Review: Gene Review: Urea Cycle Disorders Overview - Genetic Testing Registry: Congenital hyperammonemia, type I - MedlinePlus Encyclopedia: Hereditary Urea Cycle Abnormality 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) Central core disease ? ### Doctor:
Central core disease (CCD) is an inherited condition that involves muscle weakness, skeletal abnormalities, and an increased chance of having a severe reaction to some anesthesia medications. Muscle weakness ranges from mild to severe and typically affects muscles in the trunk and upper legs, though muscles in the neck and face can also be affected. Skeletal abnormalities may include curving of the spine (scoliosis), dislocation of the hip, or restricted motion in certain joints (contractures). Some individuals with CCD have an increased chance of having a severe reaction to anesthesia, called malignant hyperthermia, which may cause muscle rigidity or break-down (rhabdomyolysis), a high fever, or a rapid heart beat. RYR1 is the only gene associated with CCD and clinical testing is available to look for disease-causing alterations in this gene known as mutations.
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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 Erythropoietic protoporphyria ? ### Doctor:
What is the genetic basis of erythropoietic protoporphyria? Erythropoietic protoporphyria is caused by mutations in the FECH 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 Autoimmune autonomic ganglionopathy ? ### Doctor:
What causes autoimmune autonomic ganglionopathy? The cause of autoimmune autonomic ganglionopathy is not fully understood. An autoimmune component is presumed, as the body's own immune system damages a receptor in the autonomic ganglia (part of the peripheral autonomic nerve fiber). In one to two-thirds of affected individuals, this condition is associated with high titers of ganglionic acetylcholine receptor antibody (g-AchR antibody).. About 60% of cases follow an infection or other illness.
|
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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) Stroke ? ### Doctor:
Some brain cells die because they stop getting the oxygen and nutrients they need to function. Other brain cells die because they are damaged by sudden bleeding into or around the brain. The brain cells that don't die immediately remain at risk for death. These cells can linger in a compromised or weakened state for several hours. With timely treatment these cells can be saved. Knowing stroke symptoms, calling 911 immediately, and getting to a hospital as quickly as possible are critical.
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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 auriculo-condylar syndrome ? ### Doctor:
These resources address the diagnosis or management of auriculo-condylar syndrome: - Genetic Testing Registry: Auriculocondylar syndrome 1 - Genetic Testing Registry: Auriculocondylar syndrome 2 - MedlinePlus Encyclopedia: Cleft Lip and Palate - MedlinePlus Encyclopedia: Pinna Abnormalities and Low-Set Ears 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 Nasodigitoacoustic syndrome ? ### Doctor:
What are the signs and symptoms of Nasodigitoacoustic syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Nasodigitoacoustic 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 thumb phalanx 90% Anonychia 90% Aplasia/Hypoplasia of the distal phalanges of the toes 90% Broad forehead 90% Hypertelorism 90% Preaxial foot polydactyly 90% Prominent nasal bridge 90% Sensorineural hearing impairment 90% Short distal phalanx of finger 90% Short hallux 90% Abnormality of the voice 50% Aplastic/hypoplastic toenail 50% Clinodactyly of the 5th finger 50% Epicanthus 50% Exaggerated cupid's bow 50% Macrocephaly 50% Ptosis 50% Tented upper lip vermilion 50% Behavioral abnormality 7.5% Cognitive impairment 7.5% Short stature 7.5% Abnormality of the nail - Autosomal dominant inheritance - Broad distal phalanx of finger - Broad hallux - Broad thumb - Depressed nasal bridge - Enlarged epiphyses - Frontal bossing - High palate - Hoarse voice - Narrow palate - Prominent forehead - Pulmonic stenosis - Rounded epiphyses - Short 3rd metacarpal - Short phalanx of finger - Short toe - Thick upper lip vermilion - 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:
How to prevent Tuberculosis (TB) ? ### Doctor:
Infection Control in Health Care Settings
Tuberculosis (TB) transmission has been documented in health care settings where health care workers and patients come in contact with people who have TB disease. People who work or receive care in health care settings are at higher risk for becoming infected with TB; therefore, it is necessary to have a TB infection control plan as part of a general infection control program designed to ensure the following:
- prompt detection of infectious patients,
- airborne precautions, and
- treatment of people who have suspected or confirmed TB disease. In order to be effective, the primary emphasis of a TB infection control program should be on achieving these three goals. In all health care settings, particularly those in which people are at high risk for exposure to TB, policies and procedures for TB control should be developed, reviewed periodically, and evaluated for effectiveness to determine the actions necessary to minimize the risk for transmission of TB.
|
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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 Dystrophic epidermolysis bullosa ? ### Doctor:
What are the signs and symptoms of Dystrophic epidermolysis bullosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Dystrophic epidermolysis bullosa. 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 blistering of the skin 90% Abnormality of the fingernails 90% Abnormality of the toenails 90% Aplasia/Hypoplasia of the skin 90% Cheilitis 90% Abnormality of dental enamel 50% Abnormality of the hand 50% Abnormality of the larynx 50% Anonychia 50% Camptodactyly of toe 50% Carious teeth 50% Constipation 50% Feeding difficulties in infancy 50% Finger syndactyly 50% Furrowed tongue 50% Gangrene 50% Hypopigmented skin patches 50% Skin ulcer 50% Toe syndactyly 50% Tracheoesophageal fistula 50% Abnormality of the preputium 7.5% Anemia 7.5% Atypical scarring of skin 7.5% Blepharitis 7.5% Cerebral ischemia 7.5% Congestive heart failure 7.5% Corneal erosion 7.5% Eczema 7.5% Glomerulopathy 7.5% Hearing impairment 7.5% Hypertrophic cardiomyopathy 7.5% Immunologic hypersensitivity 7.5% Lacrimation abnormality 7.5% Malabsorption 7.5% Neoplasm of the skin 7.5% Nephrotic syndrome 7.5% Otitis media 7.5% Renal insufficiency 7.5% Restrictive lung disease 7.5% Ureteral stenosis 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 are the treatments for transthyretin amyloidosis ? ### Doctor:
These resources address the diagnosis or management of transthyretin amyloidosis: - Boston University: Amyloid Treatment & Research Program - Gene Review: Gene Review: Familial Transthyretin Amyloidosis - Genetic Testing Registry: Amyloidogenic transthyretin amyloidosis - MedlinePlus Encyclopedia: Autonomic neuropathy 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) isolated ectopia lentis ? ### Doctor:
Isolated ectopia lentis is a condition that affects the eyes, specifically the positioning of the lens. The lens is a clear structure at the front of the eye that helps focus light. In people with isolated ectopia lentis, the lens in one or both eyes is not centrally positioned as it should be but is off-center (displaced). Isolated ectopia lentis usually becomes apparent in childhood. The lens may drift further off-center over time. Vision problems are common in isolated ectopia lentis. Affected individuals often have nearsightedness (myopia) and can have an irregular curvature of the lens or a structure that covers the front of the eye (the cornea), which causes blurred vision (astigmatism). They may also develop clouding of the lenses (cataracts) or increased pressure in the eyes (glaucoma) at an earlier age than other adults.
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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 common is infection with y. enterocolitica for Yersinia ? ### Doctor:
Y. enterocolitica is a relatively infrequent cause of diarrhea and abdominal pain. Based on data from the Foodborne Diseases Active Surveillance Network (FoodNet), which measures the burden and sources of specific diseases over time, approximately one culture-confirmed Y. enterocolitica infection per 100,000 persons occurs each year. Children are infected more often than adults, and the infection is more common in the winter.
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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) prion disease ? ### Doctor:
Prion disease represents a group of conditions that affect the nervous system in humans and animals. In people, these conditions impair brain function, causing changes in memory, personality, and behavior; a decline in intellectual function (dementia); and abnormal movements, particularly difficulty with coordinating movements (ataxia). The signs and symptoms of prion disease typically begin in adulthood and worsen with time, leading to death within a few months to several years.
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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) Partington syndrome ? ### Doctor:
Partington syndrome is a rare neurological condition that is primarily characterized by mild to moderate intellectual disability and dystonia of the hands. Other signs and symptoms may include dysarthria, behavioral abnormalities, recurrent seizures and/or an unusual gait (style of walking). Partington syndrome usually occurs in males; when it occurs in females, the signs and symptoms are often less severe. It is caused by changes (mutations) in the ARX gene and is inherited in an X-linked recessive manner. Treatment is 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:
What causes Alzheimer's Disease ? ### Doctor:
There are two types of Alzheimers diseaseearly-onset and late-onset. Early-onset Alzheimers is a rare form of the disease that occurs in people age 30 to 60. It occurs in less than 5 percent of all people with Alzheimers. Almost all people with Alzheimers disease have late-onset Alzheimer's, which usually develops after age 60. Causes Not Fully Understood Scientists do not yet fully understand what causes Alzheimer's disease in most people. In early-onset Alzheimers, a genetic mutation is usually the cause. Late-onset Alzheimers arises from a complex series of brain changes that occur over decades. The causes probably include a mix of genetic, environmental, and lifestyle factors. These factors affect each person differently. Research shows that Alzheimers disease causes changes in the brain years and even decades before the first symptoms appear, so even people who seem free of the disease today may be at risk.
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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 Multi-Infarct Dementia ? ### Doctor:
There is no treatment available to reverse brain damage that has been caused by a stroke. Treatment focuses on preventing future strokes by controlling or avoiding the diseases and medical conditions that put people at high risk for stroke: high blood pressure, diabetes, high cholesterol, and cardiovascular disease. The best treatment for MID is prevention early in life eating a healthy diet, exercising, not smoking, moderately using alcohol, and maintaining a healthy weight.
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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) Guttate psoriasis ? ### Doctor:
Guttate psoriasis is a skin condition in which small, red, and scaly teardrop-shaped spots appear on the arms, legs, and middle of the body. It is a relatively uncommon form of psoriasis. The condition often develops very suddenly, and is usually triggered by an infection (e.g., strep throat, bacteria infection, upper respiratory infections or other viral infections). Other triggers include injury to the skin, including cuts, burns, and insect bites, certain malarial and heart medications, stress, sunburn, and excessive alcohol consumption. Treatment depends on the severity of the symptoms, ranging from at-home over the counter remedies to medicines that suppress the body's immune system to sunlight and phototherapy.
|
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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 Benign schwannoma ? ### Doctor:
What causes schwannomas? The cause of schwannomas is unknown. They sometimes occur in people with certain disorders including some types of neurofibromatosis (neurofibromatosis type 2 and schwannomatosis). In these cases, affected people have multiple tumors that are due to changes (mutations) in a gene. For example, neurofibromatosis type 2 is caused by mutations in the NF2 gene and schwannomatosis is caused by mutations in the SMARCB1 gene and the LZTR1 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 are the symptoms of Metaphyseal acroscyphodysplasia ? ### Doctor:
What are the signs and symptoms of Metaphyseal acroscyphodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Metaphyseal acroscyphodysplasia. 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 femur 90% Abnormality of the hip bone 90% Abnormality of the metacarpal bones 90% Accelerated skeletal maturation 90% Brachydactyly syndrome 90% Cone-shaped epiphysis 90% Genu varum 90% Micromelia 90% Short stature 90% Short toe 90% Cognitive impairment 50% Depressed nasal ridge 50% Epicanthus 50% Frontal bossing 50% Hypertelorism 50% Telecanthus 50% Malar flattening 7.5% Scoliosis 7.5% Anteverted nares - Autosomal recessive inheritance - Biconcave vertebral bodies - Cone-shaped epiphyses of the phalanges of the hand - Cone-shaped metacarpal epiphyses - Coxa valga - Craniosynostosis - Flat face - Hypoplasia of midface - Hypoplasia of the odontoid process - Intellectual disability - Irregular phalanges - Metaphyseal cupping - Metaphyseal widening - Narrow pelvis bone - Platyspondyly - Prominent forehead - Severe short stature - Short finger - Short humerus - Short metacarpal - Short palm - Short phalanx of finger - Thickened calvaria - Tibial bowing - Wide nasal bridge - 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 Troyer 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:
How many people are affected by glycine encephalopathy ? ### Doctor:
The worldwide incidence of glycine encephalopathy is unknown. Its frequency has been studied in only a few regions: this condition affects about 1 in 55,000 newborns in Finland and about 1 in 63,000 newborns in British Columbia, Canada.
|
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Is hereditary sensory and autonomic neuropathy type II 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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Is erythromelalgia inherited ? ### Doctor:
Some cases of erythromelalgia occur in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some of these instances, an affected person inherits the mutation from one affected parent. Other 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:
What are the treatments for Sheldon-Hall syndrome ? ### Doctor:
These resources address the diagnosis or management of Sheldon-Hall syndrome: - Gillette Children's Hospital - NYU Langone Medical Center 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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What is (are) Congenital primary aphakia ? ### Doctor:
Congenital primary aphakia (CPA) is a rare eye condition that is present at birth in which the lens is missing. In some cases, CPA can be associated with other eye abnormalities including microphthalmia, absence of the iris, anterior segment aplasia, and/or sclerocornea (when the cornea blends with the sclera). This condition is thought to result from an abnormality during the 4th or 5th week of fetal development, which prevents the formation of any lens structure in the eye. Mutations in the FOXE3 gene have been associated with this condition. CPA is thought to be inherited in an autosomal recessive fashion. Click here to view a diagram of the eye.
|
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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) Retinal vasculopathy with cerebral leukodystrophy ? ### Doctor:
Retinal vasculopathy with cerebral leukodystrophy (RVCL) is a rare, genetic condition that primarily affects the central nervous system. Symptoms begin in adulthood (usually in the 40s) and may include loss of vision, mini-strokes, and dementia. Death can sometimes occur within 10 years of the first symptoms appearing. RVCL is inherited in an autosomal dominant manner and is caused by mutations in the TREX1 gene. Treatments currently aim to manage or alleviate the symptoms rather than treating the underlying cause. RVCL is now considered to include the following 3 conditions which were previously thought to be distinct: hereditary endotheliopathy, retinopathy, nephropathy, and stroke (HERNS); cerebroretinal vasculopathy (CRV); and hereditary vascular retinopathy (HVR).
|
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