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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 Chanarin-Dorfman syndrome ? ### Doctor:
Mutations in the ABHD5 gene cause Chanarin-Dorfman syndrome. The ABHD5 gene provides instructions for making a protein that turns on (activates) the ATGL enzyme, which breaks down triglycerides. Triglycerides are the main source of stored energy in cells. These fats must be broken down into simpler molecules called fatty acids before they can be used for energy. ABHD5 gene mutations impair the protein's ability to activate the ATGL enzyme. An inactive enzyme makes the breakdown of triglycerides impossible, causing them to accumulate in tissues throughout the body. The buildup of triglycerides results in the signs and symptoms of Chanarin-Dorfman 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 Congenital lipoid adrenal hyperplasia ? ### Doctor:
What are the signs and symptoms of Congenital lipoid adrenal hyperplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Congenital lipoid adrenal hyperplasia. 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) Adrenogenital syndrome - Autosomal recessive inheritance - Congenital adrenal hyperplasia - Hypospadias - Renal salt wasting - 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:
Do you have information about Mammography
### Doctor:
Summary : A mammogram is an x-ray picture of the breast. It can be used to check for breast cancer in women who have no signs or symptoms of the disease. It can also be used if you have a lump or other sign of breast cancer. Screening mammography is the type of mammogram that checks you when you have no symptoms. It can help reduce the number of deaths from breast cancer among women ages 40 to 70. But it can also have drawbacks. Mammograms can sometimes find something that looks abnormal but isn't cancer. This leads to further testing and can cause you anxiety. Sometimes mammograms can miss cancer when it is there. It also exposes you to radiation. You should talk to your doctor about the benefits and drawbacks of mammograms. Together, you can decide when to start and how often to have a mammogram. | [
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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 childhood myocerebrohepatopathy spectrum ? ### Doctor:
MCHS is caused by mutations in the POLG gene. This gene provides instructions for making one part, the alpha subunit, of a protein called polymerase gamma (pol ). Pol functions in mitochondria, which are structures within cells that use oxygen to convert the energy from food into a form cells can use. Mitochondria each contain a small amount of DNA, known as mitochondrial DNA (mtDNA), which is essential for the normal function of these structures. Pol "reads" sequences of mtDNA and uses them as templates to produce new copies of mtDNA in a process called DNA replication. Most POLG gene mutations change single protein building blocks (amino acids) in the alpha subunit of pol . These changes result in a mutated pol that has a reduced ability to replicate DNA. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for autoimmune polyglandular syndrome, type 1 ? ### Doctor:
These resources address the diagnosis or management of autoimmune polyglandular syndrome, type 1: - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, autosomal dominant - Genetic Testing Registry: Autoimmune polyglandular syndrome type 1, with reversible metaphyseal dysplasia - Genetic Testing Registry: Polyglandular autoimmune syndrome, type 1 - MedlinePlus Encyclopedia: Addison's Disease - MedlinePlus Encyclopedia: Autoimmune Disorders - MedlinePlus Encyclopedia: Cutaneous Candidiasis - MedlinePlus Encyclopedia: Hypoparathyroidism 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 research (or clinical trials) is being done for Chiari Malformation ? ### Doctor:
The NINDS supports research on disorders of the brain and nervous system such as Chiari malformations. The goals of this research are to increase scientific understanding of these disorders and to find ways to prevent, treat, and, ultimately, cure them. Current NINDS-funded research includes studies to better understand the genetic factors responsible for the malformation, and factors that influence the development, progression, and relief of symptoms among people with syringomyelia, including those with Chiari I malformations. | [
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What is (are) Birdshot chorioretinopathy ? ### Doctor:
Birdshot chorioretinopathy is an eye condition in which painless, light-colored spots develop on the retina. These spots are scattered in a "birdshot" pattern. The effects of this condition on vision are quite variable; some individuals' vision is only mildly affected, whereas others experience a significant decline in vision, the appearance of floaters (small specks that appear in one's line of sight), night blindness, and other vision problems. Symptoms typically begin around middle age; Caucasians are affected more than individuals of other ethnicities. The cause of birdshot chorioretinopathy is currently unknown, but it is suspected to be an autoimmune disease. Treatment may include medications that aim to regulate the body's immune response. | [
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What is (are) Learning Disorders ? ### Doctor:
Learning disorders affect how a person understands, remembers and responds to new information. People with learning disorders may have problems - Listening or paying attention - Speaking - Reading or writing - Doing math Although learning disorders occur in very young children, they are usually not recognized until the child reaches school age. About one-third of children who have learning disabilities also have ADHD, which makes it hard to focus. Evaluation and testing by a trained professional can help identify a learning disorder. The next step is special education, which involves helping your child in the areas where he or she needs the most help. Sometimes tutors or speech or language therapists also work with the children. Learning disorders do not go away, but strategies to work around them can make them less of a problem. | [
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What is (are) Lenz microphthalmia syndrome ? ### Doctor:
Lenz microphthalmia syndrome is a genetic disorder that causes abnormal development of the eyes and several other parts of the body. Eye symptoms vary, but may include underdeveloped (small) or absent eyes, cataract, nystagmus, coloboma (a gap or split in structures that make up the eye), and glaucoma. Eye symptoms may affect one or both eyes and may cause vision loss or blindness. Other signs and symptoms may include abnormalities of the ears, teeth, hands, skeleton, urinary system and occasionally heart defects. Around 60% of people with this condition have delayed development or intellectual disability ranging from mild to severe. Mutations in the BCOR gene cause some cases of Lenz microphthalmia syndrome. The other causative gene(s) have yet to be identified. This condition is inherited in an X-linked recessive fashion. | [
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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 Mitral Valve Prolapse ? ### Doctor:
You can't prevent mitral valve prolapse (MVP). Most people who have the condition are born with it. Complications from MVP, such as arrhythmias (irregular heartbeats) and infective endocarditis (IE), are rare. IE is an infection of the inner lining of your heart chambers and valves. People at high risk for IE may be given antibiotics before some types of surgery and dental work. Antibiotics can help prevent IE. Your doctor will tell you whether you need this type of treatment. People at high risk for IE may include those who've had valve repair or replacement or who have some types of underlying heart disease. | [
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What are the symptoms of Churg Strauss syndrome ? ### Doctor:
What are the signs and symptoms of Churg Strauss syndrome? The specific signs and symptoms of Churg Strauss syndrome (CSS) vary from person to person depending on the organ systems involved. The severity, duration and age of onset also vary. CSS is considered to have three distinct phases - prodromal (allergic), eosinophilic and vasculitic - which don't always occur sequentially. Some people do not develop all three phases. The prodromal (or allergic) phase is characterized by various allergic reactions. Affected people may develop asthma (including a cough, wheezing, and shortness of breath); hay fever (allergic rhinitis); and/or repeated episodes of sinusitis. This phase can last from months to many years. Most people develop asthma-like symptoms before any other symptoms. | [
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What are the symptoms of Accessory navicular bone ? ### Doctor:
What are the signs and symptoms of Accessory navicular bone? Accessory navicular bone may cause no symptoms, but in some cases causes pain, tenderness, or irritation on or around the top of the instep. It may also cause the foot to be abnormally positioned, and may limit the normal motion of the foot. Symptoms may worsen with increased activity or tight shoes. The Human Phenotype Ontology provides the following list of signs and symptoms for Accessory navicular bone. 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 skeletal system - Autosomal dominant inheritance - 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 symptoms of Retinopathy pigmentary mental retardation ? ### Doctor:
What are the signs and symptoms of Retinopathy pigmentary mental retardation? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinopathy pigmentary mental retardation. 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) Arachnodactyly - Autosomal recessive inheritance - Cataract - Hypogonadism - Intellectual disability, progressive - Intellectual disability, severe - Joint hypermobility - Microcephaly - Moderately short stature - Myopia - Narrow palm - Pigmentary retinal degeneration - Reduced visual acuity - Retinopathy - Scoliosis - Truncal obesity - Visual impairment - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the genetic changes related to 1q21.1 microdeletion ? ### Doctor:
Most people with a 1q21.1 microdeletion are missing a sequence of about 1.35 million DNA building blocks (base pairs), also written as 1.35 megabases (Mb), in the q21.1 region of chromosome 1. However, the exact size of the deleted region varies. This deletion affects one of the two copies of chromosome 1 in each cell. The signs and symptoms that can result from a 1q21.1 microdeletion are probably related to the loss of several genes in this region. Researchers are working to determine which missing genes contribute to the specific features associated with the deletion. Because some people with a 1q21.1 microdeletion have no obvious related features, additional genetic or environmental factors are thought to be involved in the development of signs and 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 treatments for pantothenate kinase-associated neurodegeneration ? ### Doctor:
These resources address the diagnosis or management of pantothenate kinase-associated neurodegeneration: - Gene Review: Gene Review: Pantothenate Kinase-Associated Neurodegeneration - Genetic Testing Registry: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration - MedlinePlus Encyclopedia: Hallervorden-Spatz Disease - MedlinePlus Encyclopedia: MRI 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) alveolar capillary dysplasia with misalignment of pulmonary veins ? ### Doctor:
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV) is a disorder affecting the development of the lungs and their blood vessels. The disorder affects the millions of small air sacs (alveoli) in the lungs and the tiny blood vessels (capillaries) in the alveoli. It is through these alveolar capillaries that inhaled oxygen enters the bloodstream for distribution throughout the body and carbon dioxide leaves the bloodstream to be exhaled. In ACD/MPV, the alveolar capillaries fail to develop normally. The number of capillaries is drastically reduced, and existing capillaries are improperly positioned within the walls of the alveoli. These abnormalities in capillary number and location impede the exchange of oxygen and carbon dioxide. | [
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What are the genetic changes related to multiple familial trichoepithelioma ? ### Doctor:
Multiple familial trichoepithelioma can be caused by mutations in the CYLD gene. This gene provides instructions for making a protein that helps regulate nuclear factor-kappa-B. Nuclear factor-kappa-B is a group of related proteins that help protect cells from self-destruction (apoptosis) in response to certain signals. In regulating the action of nuclear factor-kappa-B, the CYLD protein allows cells to respond properly to signals to self-destruct when appropriate, such as when the cells become abnormal. By this mechanism, the CYLD protein acts as a tumor suppressor, which means that it helps prevent cells from growing and dividing too fast or in an uncontrolled way. People with CYLD-related multiple familial trichoepithelioma are born with a mutation in one of the two copies of the CYLD gene in each cell. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Glucose transporter type 1 deficiency syndrome ? ### Doctor:
Glucose transporter type 1 deficiency syndrome (GLUT1 deficiency syndrome) is an inherited condition that affects the nervous system. Signs and symptoms generally develop within the first few months of life and may include recurrent seizures (epilepsy) and involuntary eye movements. Affected people may also have microcephaly (unusually small head size) that develops after birth, developmental delay, intellectual disability and other neurological problems such as spasticity, ataxia (difficulty coordinating movements), and dysarthria. Approximately 10% of affected people have the "non-epileptic" form of GLUT1 deficiency syndrome which is associated with all the typical symptoms of the condition without seizures. GLUT1 deficiency syndrome is caused by changes (mutations) in the SLC2A1 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 is (are) Ehlers-Danlos syndrome, vascular type ? ### Doctor:
Ehlers-Danlos syndrome (EDS), vascular type is an inherited connective tissue disorder that is caused by defects in a protein called collagen. It is generally considered the most severe form of Ehlers-Danlos syndrome. Common symptoms include thin, translucent skin; easy bruising; characteristic facial appearance; and fragile arteries, muscles and internal organs. EDS, vascular type is caused by changes (mutations) in the COL3A1 gene and is inherited in an autosomal dominant manner. Treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. | [
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Is cholesteryl ester storage disease 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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What causes Kawasaki Disease ? ### Doctor:
The cause of Kawasaki disease isn't known. The body's response to a virus or infection combined with genetic factors may cause the disease. However, no specific virus or infection has been found, and the role of genetics isn't known. Kawasaki disease can't be passed from one child to another. Your child won't get it from close contact with a child who has the disease. Also, if your child has the disease, he or she can't pass it to another 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 is (are) Neurological Sequelae Of Lupus ? ### Doctor:
Lupus (also called systemic lupus erythematosus) is a disorder of the immune system. Normally, the immune system protects the body against invading infections and cancers. In lupus, the immune system is over-active and produces increased amounts of abnormal antibodies that attack the body's tissues and organs. Lupus can affect many parts of the body, including the joints, skin, kidneys, lungs, heart, nervous system, and blood vessels. The signs and symptoms of lupus differ from person to person; the disease can range from mild to life threatening. Initial symptoms of lupus may begin with a fever, vascular headaches, epilepsy, or psychoses. A striking feature of lupus is a butterfly shaped rash over the cheeks. In addition to headache, lupus can cause other neurological disorders, such as mild cognitive dysfunction, organic brain syndrome, peripheral neuropathies, sensory neuropathy, psychological problems (including personality changes, paranoia, mania, and schizophrenia), seizures, transverse myelitis, and paralysis and stroke. | [
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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 Tardive Dyskinesia ? ### Doctor:
Treatment is highly individualized. The first step is generally to stop or minimize the use of the neuroleptic drug, but this can be done only under close supervision of the physician.. However, for patients with a severe underlying condition this may not be a feasible option. Replacing the neuroleptic drug with substitute drugs may help some individuals. The only approved drug treatment for tardive dyskenesia is tetrabenazine, which is usually effective but can have side effects that need to be discussed prior to starting therapy. Other drugs such as benzodiazepines, clozapine, or botulinum toxin injections also may be tried. | [
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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 white sponge nevus ? ### Doctor:
Mutations in the KRT4 or KRT13 gene cause white sponge nevus. These genes provide instructions for making proteins called keratins. Keratins are a group of tough, fibrous proteins that form the structural framework of epithelial cells, which are cells that line the surfaces and cavities of the body and make up the different mucosae. The keratin 4 protein (produced from the KRT4 gene) and the keratin 13 protein (produced from the KRT13 gene) partner together to form molecules known as intermediate filaments. These filaments assemble into networks that provide strength and resilience to the different mucosae. Networks of intermediate filaments protect the mucosae from being damaged by friction or other everyday physical stresses. Mutations in the KRT4 or KRT13 gene disrupt the structure of the keratin protein. | [
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What are the symptoms of Ullrich congenital muscular dystrophy ? ### Doctor:
What are the signs and symptoms of Ullrich congenital muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Ullrich congenital muscular dystrophy. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the MedlinePlus Medical Dictionary to look up the definitions for these medical terms. Signs and Symptoms Approximate number of patients (when available) Autosomal dominant inheritance - Autosomal recessive inheritance - Congenital muscular dystrophy - Facial palsy - Failure to thrive - Feeding difficulties in infancy - Flexion contracture - Follicular hyperkeratosis - Generalized amyotrophy - High palate - Hip dislocation - Hyperextensibility at wrists - Hyperhidrosis - Increased laxity of ankles - Increased laxity of fingers - Increased variability in muscle fiber diameter - Infantile onset - Joint laxity - Kyphosis - Mildly elevated creatine phosphokinase - Motor delay - Muscle fiber necrosis - Neonatal hypotonia - Nocturnal hypoventilation - Progressive - Protruding ear - Proximal muscle weakness - Recurrent lower respiratory tract infections - Respiratory insufficiency due to muscle weakness - Round face - Scoliosis - Slender build - Spinal rigidity - Talipes equinovarus - Torticollis - Type 1 muscle fiber predominance - Variable expressivity - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. | [
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What is (are) Hyperthyroidism ? ### Doctor:
Your thyroid is a butterfly-shaped gland in your neck, just above your collarbone. It is one of your endocrine glands, which make hormones. Thyroid hormones control the rate of many activities in your body. These include how fast you burn calories and how fast your heart beats. All of these activities are your body's metabolism. If your thyroid is too active, it makes more thyroid hormones than your body needs. This is called hyperthyroidism. Hyperthyroidism is more common in women, people with other thyroid problems, and those over 60 years old. Grave's disease, an autoimmune disorder, is the most common cause. Other causes include thyroid nodules, thyroiditis, consuming too much iodine, and taking too much synthetic thyroid hormone. The symptoms can vary from person to person. | [
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What are the symptoms of Spinocerebellar ataxia 11 ? ### Doctor:
What are the signs and symptoms of Spinocerebellar ataxia 11? The Human Phenotype Ontology provides the following list of signs and symptoms for Spinocerebellar ataxia 11. 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) Adult onset - Autosomal dominant inheritance - Cerebellar atrophy - Dysarthria - Hyperreflexia - Nystagmus - Progressive cerebellar ataxia - 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 symptoms of Limb-girdle muscular dystrophy type 2E ? ### Doctor:
What are the signs and symptoms of Limb-girdle muscular dystrophy type 2E? The Human Phenotype Ontology provides the following list of signs and symptoms for Limb-girdle muscular dystrophy type 2E. 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) Dilated cardiomyopathy 5% Autosomal recessive inheritance - Calf muscle pseudohypertrophy - Elevated serum creatine phosphokinase - Juvenile onset - Limb-girdle muscle weakness - Muscular dystrophy - Pelvic girdle muscle atrophy - Proximal amyotrophy - Scapular winging - Shoulder girdle muscle atrophy - 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 21-hydroxylase deficiency ? ### Doctor:
What is the goal for treating 21-hydroxylase-deficient congenital adrenal hyperplasia? The objectives for treating 21-hydroxylase deficiency differ with age. In childhood, the overall goal is to replace cortisol. Obtaining hormonal balance is important and patients growth velocity and bone age is monitored. Routine analysis of blood, urine, and/or saliva may also be necessary. Corrective surgery is frequently required for females born with abnormal genitalia. In late childhood and adolescence, maintaining hormonal balance is equally important. Overtreatment may result in obesity and delayed menarche/puberty, whereas under-replacement will result in sexual precocity. Also, it is important that teens and young adults with 21-hydroxylase deficiency be successfully transitioned to adult care facilities. | [
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What is (are) Weaver syndrome ? ### Doctor:
Weaver syndrome is a rare condition that is characterized primarily by tall stature. Other signs and symptoms of the condition may include macrocephaly (unusually large head size); intellectual disability; distinctive facial features; camptodactyly (permanently bent digits) of the fingers and/or toes; poor coordination; soft and doughy skin; umbilical hernia; abnormal muscle tone; and a hoarse, low-pitched cry during infancy. Some studies also suggest that people affected by Weaver syndrome may have an increased risk of developing neuroblastoma. Weaver syndrome is usually caused by changes (mutations) in the EZH2 gene. Although the condition is considered autosomal dominant, most cases occur as de novo mutations in people with no family history of the condition. Treatment is based on the signs and symptoms present in each person. | [
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What is (are) Oligoastrocytoma ? ### Doctor:
Oligoastrocytoma is a brain tumor that forms when two types of cells in the brain, called oligodendrocytes and astrocytes, rapidly increase in number to form a mass. These brain cells are known as glial cells, which normally protect and support nerve cells in the brain. Because an oligoastrocytoma is made up of a combination of two cell types, it is known as a mixed glioma. Oligoastrocytomas usually occur in a part of the brain called the cerebrum and are diagnosed in adults between the ages of 30 and 50. The exact cause of this condition is unknown. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What are the treatments for Melkersson-Rosenthal Syndrome ? ### Doctor:
Treatment is symptomatic and may include medication therapies with nonsteroidal anti-inflammatory drugs (NSAIDs) and corticosteroids to reduce swelling, as well as antibiotics and immunosuppressants. Surgery may be recommended to relieve pressure on the facial nerves and to reduce swollen tissue, but its effectiveness has not been established. Massage and electrical stimulation may also be prescribed. | [
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What to do for Solitary Kidney ? ### Doctor:
People with a solitary kidney do not need to eat a special diet. However, people with reduced kidney function may need to make changes to their diet to slow the progression of kidney disease. More information about recommended dietary changes is provided in the NIDDK health topics, Nutrition for Early Chronic Kidney Disease in Adults and Nutrition for Advanced Chronic Kidney Disease in Adults, and on the National Kidney Disease Education Program website. People should talk with their health care provider about what diet is right for them. Controlling Blood Pressure
People can control their blood pressure by not smoking, eating a healthy diet, and taking certain medications. Medications that lower blood pressure can also significantly slow the progression of 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:
How many people are affected by citrullinemia ? ### Doctor:
Type I citrullinemia is the most common form of the disorder, affecting about 1 in 57,000 people worldwide. Type II citrullinemia is found primarily in the Japanese population, where it occurs in an estimated 1 in 100,000 to 230,000 individuals. Type II also has been reported in other populations, including people from East Asia and the Middle East. | [
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What is (are) Gallstones ? ### Doctor:
Your gallbladder is a pear-shaped organ under your liver. It stores bile, a fluid made by your liver to digest fat. As your stomach and intestines digest food, your gallbladder releases bile through a tube called the common bile duct. The duct connects your gallbladder and liver to your small intestine. Your gallbladder is most likely to give you trouble if something blocks the flow of bile through the bile ducts. That is usually a gallstone. Gallstones form when substances in bile harden. Gallstone attacks usually happen after you eat. Signs of a gallstone attack may include nausea, vomiting, or pain in the abdomen, back, or just under the right arm. Gallstones are most common among older adults, women, overweight people, Native Americans and Mexican Americans. Gallstones are often found during imaging tests for other health conditions. | [
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What is (are) Neuroaxonal dystrophy ? ### Doctor:
Infantile neuroaxonal dystrophy (INAD) is a rare inherited neurological disorder. It affects axons, the part of a nerve cell that carries messages from the brain to other parts of the body, and causes progressive loss of vision, muscular control, and mental skills. While the basic genetic and metabolic causes are unknown, INAD is the result of an abnormal build-up of toxic substances in nerves that communicate with muscles, skin, and the conjunctive tissue around the eyes. Symptoms usually begin within the first 2 years of life, with the loss of head control and the ability to sit, crawl, or walk, accompanied by deterioration in vision and speech. Some children may have seizures. Distinctive facial deformities may be present at birth, including a prominent forehead, crossed eyes, an unusually small nose or jaw, and large, low-set ears. | [
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What are the symptoms of Paranasal Sinus and Nasal Cavity Cancer ? ### Doctor:
Signs of paranasal sinus and nasal cavity cancer include sinus problems and nosebleeds. These and other signs and symptoms may be caused by paranasal sinus and nasal cavity cancer or by other conditions. There may be no signs or symptoms in the early stages. Signs and symptoms may appear as the tumor grows. Check with your doctor if you have any of the following: - Blocked sinuses that do not clear, or sinus pressure. - Headaches or pain in the sinus areas. - A runny nose. - Nosebleeds. - A lump or sore inside the nose that does not heal. - A lump on the face or roof of the mouth. - Numbness or tingling in the face. - Swelling or other trouble with the eyes, such as double vision or the eyes pointing in different directions. - Pain in the upper teeth, loose teeth, or dentures that no longer fit well. | [
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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 Pelizaeus-Merzbacher disease inherited ? ### Doctor:
How is Pelizaeus-Merzbacher disease inherited? | [
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What are the treatments for dystonia 6 ? ### Doctor:
These resources address the diagnosis or management of dystonia 6: - Gene Review: Gene Review: Dystonia Overview - Genetic Testing Registry: Dystonia 6, torsion 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 are the symptoms of Brittle cornea syndrome ? ### Doctor:
What are the signs and symptoms of Brittle cornea syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Brittle cornea 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) Corneal dystrophy 90% Decreased corneal thickness 90% Myopia 90% Atypical scarring of skin 50% Blue sclerae 50% Bruising susceptibility 50% Conductive hearing impairment 50% Gait disturbance 50% Joint hypermobility 50% Myalgia 50% Reduced bone mineral density 50% Sensorineural hearing impairment 50% Visual impairment 50% Abnormality of epiphysis morphology 7.5% Abnormality of the hip bone 7.5% Abnormality of the mitral valve 7.5% Abnormality of the pulmonary valve 7.5% Abnormality of the teeth 7.5% Cleft palate 7.5% Corneal erosion 7.5% Glaucoma 7.5% Hernia 7.5% Recurrent fractures 7.5% Retinal detachment 7.5% Scoliosis 7.5% Flat cornea 5% Inguinal hernia 5% Megalocornea 5% Sclerocornea 5% Umbilical hernia 5% Autosomal recessive inheritance - Congenital hip dislocation - Dentinogenesis imperfecta - Disproportionate tall stature - Epicanthus - Hearing impairment - Joint laxity - Keratoconus - Keratoglobus - Macrocephaly - Mitral valve prolapse - Molluscoid pseudotumors - Palmoplantar cutis laxa - Red hair - Spondylolisthesis - Visual loss - 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 Takayasu arteritis ? ### Doctor:
How might Takayasu arteritis be treated? The treatment of Takayasu arteritis is focused on controlling both the inflammatory process and hypertension . Treatment options might include: corticosteroids, medications that block the activity of interkeukin-6 (iL-6 receptor inhibitors), medications that impair the activity of B-lymphocyets (B-cell depletion), medications that are toxic to cells (cytotoxic agents), medications that block the activity of tumor necrosis factor (anti-tumor necrosis factor agents), and antihypertensive agents. Lifestyle modification including exercise and diet might additionally be recommended. For additional information on the treatment of Takayasu arteritis, please reference the Medscape article. You may need to register to view the article, but registration is free. | [
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What is (are) oculodentodigital dysplasia ? ### Doctor:
Oculodentodigital dysplasia is a condition that affects many parts of the body, particularly the eyes (oculo-), teeth (dento-), and fingers (digital). Common features in people with this condition are small eyes (microphthalmia) and other eye abnormalities that can lead to vision loss. Affected individuals also frequently have tooth abnormalities, such as small or missing teeth, weak enamel, multiple cavities, and early tooth loss. Other common features of this condition include a thin nose and webbing of the skin (syndactyly) between the fourth and fifth fingers. Less common features of oculodentodigital dysplasia include sparse hair growth (hypotrichosis), brittle nails, an unusual curvature of the fingers (camptodactyly), syndactyly of the toes, small head size (microcephaly), and an opening in the roof of the mouth (cleft palate). | [
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What is (are) Kleine-Levin Syndrome ? ### Doctor:
Kleine-Levin syndrome is a rare disorder that primarily affects adolescent males (approximately 70 percent of those with Kleine-Levin syndrome are male). It is characterized by recurring but reversible periods of excessive sleep (up to 20 hours per day). Symptoms occur as "episodes," typically lasting a few days to a few weeks. Episode onset is often abrupt, and may be associated with flu-like symptoms. Excessive food intake, irritability, childishness, disorientation, hallucinations, and an abnormally uninhibited sex drive may be observed during episodes. Mood can be depressed as a consequence, but not a cause, of the disorder. Affected individuals are completely normal between episodes, although they may not be able to remember afterwards everything that happened during the episode. | [
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What is (are) gastrointestinal stromal tumor ? ### Doctor:
A gastrointestinal stromal tumor (GIST) is a type of tumor that occurs in the gastrointestinal tract, most commonly in the stomach or small intestine. The tumors are thought to grow from specialized cells found in the gastrointestinal tract called interstitial cells of Cajal (ICCs) or precursors to these cells. GISTs are usually found in adults between ages 40 and 70; rarely, children and young adults develop these tumors. The tumors can be cancerous (malignant) or noncancerous (benign). Small tumors may cause no signs or symptoms. However, some people with GISTs may experience pain or swelling in the abdomen, nausea, vomiting, loss of appetite, or weight loss. Sometimes, tumors cause bleeding, which may lead to low red blood cell counts (anemia) and, consequently, weakness and tiredness. | [
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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 multiple pterygium 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:
What is (are) lysinuric protein intolerance ? ### Doctor:
Lysinuric protein intolerance is a disorder caused by the body's inability to digest and use certain protein building blocks (amino acids), namely lysine, arginine, and ornithine. Because the body cannot effectively break down these amino acids, which are found in many protein-rich foods, nausea and vomiting are typically experienced after ingesting protein. People with lysinuric protein intolerance have features associated with protein intolerance, including an enlarged liver and spleen (hepatosplenomegaly), short stature, muscle weakness, impaired immune function, and progressively brittle bones that are prone to fracture (osteoporosis). A lung disorder called pulmonary alveolar proteinosis may also develop. This disorder is characterized by protein deposits in the lungs, which interfere with lung function and can be life-threatening. | [
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Is pseudohypoaldosteronism type 2 inherited ? ### Doctor:
This condition is usually inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases caused by mutations in the WNK1, WNK4, or KLHL3 gene, an affected person inherits the mutation from one affected parent. While some cases caused by CUL3 gene mutations can be inherited from an affected parent, many result from new mutations in the gene and occur in people with no history of the disorder in their family. Some cases caused by mutations in the KLHL3 gene are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Crouzon syndrome ? ### Doctor:
Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few people with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. | [
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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 Childhood Ependymoma ? ### Doctor:
Tests that examine the brain and spinal cord are used to detect (find) childhood ependymoma. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. A history of the patients health habits and past illnesses and treatments will also be taken. - Neurological exam : A series of questions and tests to check the brain, spinal cord, and nerve function. The exam checks a persons mental status, coordination, and ability to walk normally, and how well the muscles, senses, and reflexes work. This may also be called a neuro exam or a neurologic exam. - MRI (magnetic resonance imaging) with gadolinium : A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the brain and spinal cord. | [
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What is (are) Heart Failure ? ### Doctor:
In heart failure, the heart cannot pump enough blood to meet the body's needs. In some cases, the heart cannot fill with enough blood. In other cases, the heart can't pump blood to the rest of the body with enough force. Some people have both problems. Heart failure develops over time as the pumping action of the heart gets weaker. It can affect either the right, the left, or both sides of the heart. Heart failure does not mean that the heart has stopped working or is about to stop working. When heart failure affects the left side of the heart, the heart cannot pump enough oxygen-rich blood to the rest of the body. When heart failure affects the right side, the heart cannot pump enough blood to the lungs, where it picks up oxygen. The Heart's Pumping Action In normal hearts, blood vessels called veins bring oxygen-poor blood from the body to the right side of the heart. | [
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What are the treatments for Chordoma ? ### Doctor:
How might a chordoma be treated? Unfortunately, because chordomas are quite rare, the best treatment for these tumors has yet to be determined. The current treatment for chordoma of the clivus often begins with surgery (resection) to remove as much of the tumor as possible. The extent of surgery, or the amount of tumor that may be removed, depends on the location of the tumor and how close it is to critical structures in the brain. Surgery is followed by radiation therapy to destroy any cancer cells that may remain after surgery. Several studies have suggested that proton beam radiation or combined proton/photon radiation may be more effect than conventional photon radiation therapy for treating chordomas of the skull base because proton radiation may allow for a greater dose of radiation to be delivered to the tumor without damaging the surrounding normal tissues. | [
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How many people are affected by cyclic neutropenia ? ### Doctor:
Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 million individuals worldwide. | [
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What causes What I need to know about Gas ? ### Doctor:
Most foods that contain carbohydrates can cause gas. Foods that cause gas for one person may not cause gas for someone else. Some foods that contain carbohydrates and may cause gas are
- beans - vegetables such as broccoli, cauliflower, cabbage, brussels sprouts, onions, mushrooms, artichokes, and asparagus - fruits such as pears, apples, and peaches - whole grains such as whole wheat and bran - sodas; fruit drinks, especially apple juice and pear juice; and other drinks that contain high fructose corn syrup, a sweetener made from corn - milk and milk products such as cheese, ice cream, and yogurt - packaged foodssuch as bread, cereal, and salad dressingthat contain small amounts of lactose, the sugar found in milk and foods made with milk - sugar-free candies and gums that contain sugar alcohols such as sorbitol, mannitol, and xylitol | [
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Do you have information about Radon
### Doctor:
Summary : You can't see radon. And you can't smell it or taste it. But it may be a problem in your home. Radon comes from the natural breakdown of uranium in soil, rock, and water. Radon is the second leading cause of lung cancer in the United States. There are low levels of radon outdoors. Indoors, there can be high levels. Radon can enter homes and buildings through cracks in floors, walls, or foundations. Radon can also be in your water, especially well water. Testing is the only way to know if your home has elevated radon levels. It is inexpensive and easy. You can buy a test kit at most hardware stores or hire someone to do a test. Radon reduction systems can bring the amount of radon down to a safe level. The cost depends on the size and design of your home. | [
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What are the treatments for periventricular heterotopia ? ### Doctor:
These resources address the diagnosis or management of periventricular heterotopia: - Gene Review: Gene Review: FLNA-Related Periventricular Nodular Heterotopia - Genetic Testing Registry: Heterotopia, periventricular, associated with chromosome 5p anomalies - Genetic Testing Registry: Heterotopia, periventricular, autosomal recessive - Genetic Testing Registry: X-linked periventricular heterotopia 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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How to prevent High Blood Pressure ? ### Doctor:
Two key measures are used to determine if someone is overweight or obese. These are body mass index, or BMI, and waist circumference. Body mass index (BMI) is a measure of weight in relation to height, and provides an estimate of your total body fat. As your BMI goes up, so do your chances of getting high blood pressure, heart disease, and other health problems. A BMI - below 18.5 is a sign that you are underweight. - between 18.5 and 24.9 is in the healthy range. - between 25 and 29.9 is considered overweight. - of 30 or more is considered obese. below 18.5 is a sign that you are underweight. between 18.5 and 24.9 is in the healthy range. between 25 and 29.9 is considered overweight. of 30 or more is considered obese. See the Body Mass Index Table, available from the National Heart, Lung, and Blood Institute (NHLBI). | [
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What is (are) Hemophilia B ? ### Doctor:
Hemophilia B is a bleeding disorder that slows the blood clotting process. People with this disorder experience prolonged bleeding or oozing following an injury or surgery. In severe cases of hemophilia, heavy bleeding occurs after minor injury or even in the absence of injury. Serious complications can result from bleeding into the joints, muscles, brain, or other internal organs. Milder forms may not become apparent until abnormal bleeding occurs following surgery or a serious injury. People with an unusual form of hemophilia B, known as hemophilia B Leyden, experience episodes of excessive bleeding in childhood but have few bleeding problems after puberty. Hemophilia B is inherited in an X-linked recessive pattern and is caused by mutations in the F9 gene. | [
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What is (are) Postural orthostatic tachycardia syndrome ? ### Doctor:
Postural orthostatic tachycardia syndrome (POTS) is a rare condition that is primarily characterized by orthostatic intolerance (an excessively reduced volume of blood returns to the heart when moving from a lying down to a standing position). Orthostatic Intolerance is generally associated with lightheadedness and/or fainting that is typically relieved by lying down again. In people with POTS, these symptoms are also accompanied by a rapid increase in heartbeat. Although POTS can affect men and women of all ages, most cases are diagnosed in women between the ages of 15 and 50. The exact underlying cause of POTS is currently unknown. However, episodes often begin after a pregnancy, major surgery, trauma, or a viral illness and may increase right before a menstrual period. | [
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what research (or clinical trials) is being done for Cerebral Hypoxia ? ### Doctor:
The NINDS supports and conducts studies aimed at understanding neurological conditions that can damage the brain, such as cerebral hypoxia. The goals of these studies are to find ways to prevent and treat these conditions. | [
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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 Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? ### Doctor:
The most common symptom of microscopic colitis is chronic, watery, nonbloody diarrhea. Episodes of diarrhea can last for weeks, months, or even years. However, many people with microscopic colitis may have long periods without diarrhea. Other signs and symptoms of microscopic colitis can include
- a strong urgency to have a bowel movement or a need to go to the bathroom quickly - pain, cramping, or bloating in the abdomenthe area between the chest and the hipsthat is usually mild - weight loss - fecal incontinenceaccidental passing of stool or fluid from the rectumespecially at night - nausea - dehydrationa condition that results from not taking in enough liquids to replace fluids lost through diarrhea
The symptoms of microscopic colitis can come and go frequently. | [
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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) spastic paraplegia type 7 ? ### Doctor:
Spastic paraplegia type 7 is part of a group of genetic disorders known as hereditary spastic paraplegias. These disorders are characterized by progressive muscle stiffness (spasticity) and the development of paralysis of the lower limbs (paraplegia). Hereditary spastic paraplegias are divided into two types: pure and complex. The pure types involve the lower limbs. The complex types involve the lower limbs and can also affect the upper limbs to a lesser degree; the structure or functioning of the brain; and the nerves connecting the brain and spinal cord to muscles and sensory cells that detect sensations such as touch, pain, heat, and sound (the peripheral nervous system). Spastic paraplegia type 7 can occur in either the pure or complex form. Like all hereditary spastic paraplegias, spastic paraplegia type 7 involves spasticity of the leg muscles and increased muscle weakness. | [
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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 Lambert Eaton myasthenic syndrome ? ### Doctor:
What causes Lambert Eaton myasthenic syndrome? Lambert Eaton myasthenic syndrome is the result of an autoimmune process which causes a disruption of electrical impulses between nerve cells and muscle fibers. In cases where Lambert Eaton myasthenic syndrome appears in association with cancer, the cause may be that the bodys attempt to fight the cancer inadvertently causes it to attack nerve fiber endings, especially the voltage-gated calcium channels found there. The trigger for the cases not associated with cancer is unknown. | [
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What is (are) Feingold syndrome ? ### Doctor:
Feingold syndrome is a disorder that affects many parts of the body. The signs and symptoms of this condition vary among affected individuals, even among members of the same family. Individuals with Feingold syndrome have characteristic abnormalities of their fingers and toes. Almost all people with this condition have a specific hand abnormality called brachymesophalangy, which refers to shortening of the second and fifth fingers. Other common abnormalities include fifth fingers that curve inward (clinodactyly), underdeveloped thumbs (thumb hypoplasia), and fusion (syndactyly) of the second and third toes or the fourth and fifth toes. People with Feingold syndrome are frequently born with a blockage in part of their digestive system called gastrointestinal atresia. | [
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How many people are affected by small fiber neuropathy ? ### Doctor:
The prevalence of small fiber neuropathy is unknown. | [
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Is mucolipidosis III alpha/beta 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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What is (are) Cholera ? ### Doctor:
Cholera is a bacterial infection that causes diarrhea. The cholera bacterium is usually found in water or food contaminated by feces (poop). Cholera is rare in the US. You may get it if you travel to parts of the world with inadequate water treatment and poor sanitation, and lack of sewage treatment. Outbreaks can also happen after disasters. The disease is not likely to spread directly from one person to another. Often the infection is mild or without symptoms, but sometimes it can be severe. Severe symptoms include profuse watery diarrhea, vomiting, and leg cramps. In severe cases, rapid loss of body fluids leads to dehydration and shock. Without treatment, death can occur within hours. Doctors diagnose cholera with a stool sample or rectal swab. Treatment includes replacing fluid and salts and sometimes antibiotics. | [
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Is Hereditary lymphedema type II inherited ? ### Doctor:
How is hereditary lymphedema type II inherited? Hereditary lymphedema type II appears to have an autosomal dominant pattern of inheritance, which means that one copy of an altered gene in each cell is sufficient to cause the disorder. People with hereditary lymphedema type II usually have at least one other affected family member, in most cases, a parent. When the condition occurs in only one person in a family, the condition is described as Meige-like lymphedema. | [
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what research (or clinical trials) is being done for Transverse Myelitis ? ### Doctor:
The National Institute of Neurological Disorders and Stroke (NINDS) conducts research related to transverse myelitis in its laboratories at the National Institutes of Health (NIH), and also supports additional transverse myelitis research through grants to major medical institutions across the country. Some studies focus on strategies to repair the spinal cord, including approaches using cell transplantation. The NINDS also funds researchers who are using animal models of spinal cord injury to study strategies for replacement or regeneration of spinal cord nerve cells. The knowledge gained from such research should lead to a greater knowledge of the mechanisms responsible for transverse myelitis and may ultimately provide a means to prevent and treat this disorder. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is molybdenum cofactor deficiency inherited ? ### Doctor:
Molybdenum cofactor deficiency has an autosomal recessive pattern of inheritance, which means both copies of the gene in each cell have mutations. An affected individual usually inherits one altered copy of the gene from each parent. Parents of an individual with an autosomal recessive condition typically do not show signs and symptoms of the condition. At least one individual with molybdenum cofactor deficiency inherited two mutated copies of the MOCS1 gene through a mechanism called uniparental isodisomy. In this case, an error occurred during the formation of egg or sperm cells, and the child received two copies of the mutated gene from one parent instead of one copy from each parent. | [
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How to diagnose Childhood Extracranial Germ Cell Tumors ? ### Doctor:
Imaging studies and blood tests are used to detect (find) and diagnose childhood extracranial germ cell tumors. The following tests and procedures may be used: - Physical exam and history : An exam of the body to check general signs of health, including checking for signs of disease, such as lumps or anything else that seems unusual. The testicles may be checked for lumps, swelling, or pain. A history of the patient's health habits and past illnesses and treatments will also be taken. - Serum tumor marker test : A procedure in which a sample of blood is checked to measure the amounts of certain substances released into the blood by organs, tissues, or tumor cells in the body. Certain substances are linked to specific types of cancer when found in increased levels in the blood. | [
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What is (are) Cerebral Aneurysms ? ### Doctor:
A cerebral aneurysm is a weak or thin spot on a blood vessel in the brain that balloons out and fills with blood. An aneurysm can press on a nerve or surrounding tissue, and also leak or burst, which lets blood spill into surrounding tissues (called a hemorrhage). Cerebral aneurysms can occur at any age, although they are more common in adults than in children and are slightly more common in women than in men. The signs and symptoms of an unruptured cerebral aneurysm will partly depend on its size and rate of growth. For example, a small, unchanging aneurysm will generally produce no symptoms, whereas a larger aneurysm that is steadily growing may produce symptoms such as headache, numbness, loss of feeling in the face or problems with the eyes. Immediately after an aneurysm ruptures, an individual may experience such symptoms as a sudden and unusually severe headache, nausea, vision impairment, vomiting, and loss of consciousness. | [
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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 neurofibromatosis type 1 ? ### Doctor:
Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. | [
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What are the symptoms of Epidermolysa bullosa simplex with muscular dystrophy ? ### Doctor:
What are the signs and symptoms of Epidermolysa bullosa simplex with muscular dystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Epidermolysa bullosa simplex with muscular dystrophy. 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% Alopecia 90% Myopathy 90% Neurological speech impairment 90% Ophthalmoparesis 90% Abnormality of dental enamel 50% Aplasia/Hypoplasia of the skin 50% Ptosis 50% Fatigable weakness 7.5% Anemia - Autosomal recessive inheritance - Carious teeth - Hypoplasia of dental enamel - Increased connective tissue - Keratitis - Milia - Muscular dystrophy - Nail dysplasia - Nail dystrophy - Neonatal respiratory distress - Palmoplantar hyperkeratosis - Punctate keratitis - Scarring alopecia of scalp - Short stature - Urethral stricture - 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) Leber congenital amaurosis ? ### Doctor:
Leber congenital amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. Leber congenital amaurosis is also associated with other vision problems, including an increased sensitivity to light (photophobia), involuntary movements of the eyes (nystagmus), and extreme farsightedness (hyperopia). The pupils, which usually expand and contract in response to the amount of light entering the eye, do not react normally to light. Instead, they expand and contract more slowly than normal, or they may not respond to light at all. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
What is (are) Sleep Deprivation and Deficiency ? ### Doctor:
Sleep deprivation (DEP-rih-VA-shun) is a condition that occurs if you don't get enough sleep. Sleep deficiency is a broader concept. It occurs if you have one or more of the following:
You don't get enough sleep (sleep deprivation)
You sleep at the wrong time of day (that is, you're out of sync with your body's natural clock)
You don't sleep well or get all of the different types of sleep that your body needs
You have a sleep disorder that prevents you from getting enough sleep or causes poor quality sleep
This article focuses on sleep deficiency, unless otherwise noted. Sleeping is a basic human need, like eating, drinking, and breathing. Like these other needs, sleeping is a vital part of the foundation for good health and well-being throughout your lifetime. | [
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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 Causes of Diabetes ? ### Doctor:
Other types of diabetes have a variety of possible causes. Genetic Mutations Affecting Beta Cells, Insulin, and Insulin Action
Some relatively uncommon forms of diabetes known as monogenic diabetes are caused by mutations, or changes, in a single gene. These mutations are usually inherited, but sometimes the gene mutation occurs spontaneously. Most of these gene mutations cause diabetes by reducing beta cells ability to produce insulin. The most common types of monogenic diabetes are neonatal diabetes mellitus (NDM) and MODY. NDM occurs in the first 6 months of life. MODY is usually found during adolescence or early adulthood but sometimes is not diagnosed until later in life. More information about NDM and MODY is provided in the NIDDK health topic, Monogenic Forms of Diabetes. | [
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What is (are) Hearing Loss ? ### Doctor:
Hearing loss is a common problem caused by noise, aging, disease, and heredity. Hearing is a complex sense involving both the ear's ability to detect sounds and the brain's ability to interpret those sounds, including the sounds of speech. Factors that determine how much hearing loss will negatively affect a persons quality of life include - the degree of the hearing loss - the pattern of hearing loss across different frequencies (pitches) - whether one or both ears is affected - the areas of the auditory system that are not working normallysuch as the middle ear, inner ear, neural pathways, or brain - the ability to recognize speech sounds - the history of exposures to loud noise and environmental or drug-related toxins that are harmful to hearing - age. | [
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How many people are affected by peroxisomal acyl-CoA oxidase deficiency ? ### Doctor:
Peroxisomal acyl-CoA oxidase deficiency is a rare disorder. Its prevalence is unknown. Only a few dozen 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:
Is megalencephaly-capillary malformation syndrome inherited ? ### Doctor:
MCAP is not inherited from a parent and does not run in families. In people with MCAP, a PIK3CA gene mutation arises randomly in one cell during the early stages of development before birth. As cells continue to divide, some cells will have the mutation and other cells will not. This mixture of cells with and without a genetic mutation is known as mosaicism. | [
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What are the genetic changes related to X-linked severe combined immunodeficiency ? ### Doctor:
Mutations in the IL2RG gene cause X-linked SCID. The IL2RG gene provides instructions for making a protein that is critical for normal immune system function. This protein is necessary for the growth and maturation of developing immune system cells called lymphocytes. Lymphocytes defend the body against potentially harmful invaders, make antibodies, and help regulate the entire immune system. Mutations in the IL2RG gene prevent these cells from developing and functioning normally. Without functional lymphocytes, the body is unable to fight off infections. | [
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Is Bilateral perisylvian polymicrogyria inherited ? ### Doctor:
Is bilateral perisylvian polymicrogyria inherited? In most cases, bilateral perisylvian polymicrogyria (BPP) occurs sporadically in people with no family history of the condition. Rarely, more than one family member may be affected by BPP. These cases may follow an autosomal dominant, autosomal recessive, or X-linked pattern of inheritance. | [
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What is (are) 8p11 myeloproliferative syndrome ? ### Doctor:
8p11 myeloproliferative syndrome is a blood cancer that involves different types of blood cells. Blood cells are divided into several groups (lineages) based on the type of early cell from which they are descended. Two of these lineages are myeloid cells and lymphoid cells. Individuals with 8p11 myeloproliferative syndrome can develop both myeloid cell cancer and lymphoid cell cancer. The condition can occur at any age. It usually begins as a myeloproliferative disorder, which is characterized by a high number of white blood cells (leukocytes). Most affected individuals also have an excess of myeloid cells known as eosinophils (eosinophilia). In addition to a myeloproliferative disorder, many people with 8p11 myeloproliferative syndrome develop lymphoma, which is a form of blood cancer that involves lymphoid cells. | [
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what are public health agencies doing to prevent or control yersiniosis for Yersinia ? ### Doctor:
The Centers for Disease Control and Prevention (CDC) monitors the frequency of Y. enterocolitica infections through the foodborne disease active surveillance network (FoodNet). In addition, CDC conducts investigations of outbreaks of yersiniosis to control them and to learn more about how to prevent these infections. CDC has collaborated in an educational campaign to increase public awareness about prevention of Y. enterocolitica infections. The U.S. Food and Drug Administration inspects imported foods and milk pasteurization plants and promotes better food preparation techniques in restaurants and food processing plants. The U.S. Department of Agriculture monitors the health of food animals and is responsible for the quality of slaughtered and processed meat. | [
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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) Generalized pustular psoriasis ? ### Doctor:
Generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. Affected people develop episodes of red and tender skin with widespread pustules throughout their body. This is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. The condition generally resolves within days or weeks; however, relapses are common. Some cases of generalized pustular psoriasis are caused by changes (mutations) in the IL36RN gene and are inherited in an autosomal recessive manner. Possible triggers for sporadic forms of the condition include withdrawal from corticosteroids, exposure to certain medications, and/or infection; however, in many cases, the underlying cause is unknown. Generalized pustular psoriasis can be life threatening, so hospitalization and a specialist's care is usually required. | [
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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 ophthalmo-acromelic syndrome ? ### Doctor:
Mutations in the SMOC1 gene cause ophthalmo-acromelic syndrome. The SMOC1 gene provides instructions for making a protein called secreted modular calcium-binding protein 1 (SMOC-1). This protein is found in basement membranes, which are thin, sheet-like structures that support cells in many tissues and help anchor cells to one another during embryonic development. The SMOC-1 protein attaches (binds) to many different proteins and is thought to regulate molecules called growth factors that stimulate the growth and development of tissues throughout the body. These growth factors play important roles in skeletal formation, normal shaping (patterning) of the limbs, as well as eye formation and development. The SMOC-1 protein also likely promotes the maturation (differentiation) of cells that build bones, called osteoblasts. | [
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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 Alpha-1 Antitrypsin Deficiency? ? ### Doctor:
Alpha-1 antitrypsin (AAT) deficiency occurs in all ethnic groups. However, the condition occurs most often in White people of European descent. AAT deficiency is an inherited condition. "Inherited" means the condition is passed from parents to children through genes. If you have bloodline relatives with known AAT deficiency, you're at increased risk for the condition. Even so, it doesn't mean that you'll develop one of the diseases related to the condition. Some risk factors make it more likely that you'll develop lung disease if you have AAT deficiency. Smoking is the leading risk factor for serious lung disease if you have AAT deficiency. Your risk for lung disease also may go up if you're exposed to dust, fumes, or other toxic substances. | [
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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 Danon disease ? ### Doctor:
Is genetic testing available for Danon disease? Yes. GeneTests lists laboratories offering clinical genetic testing for Danon disease. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options. Click on the link above to view a list of testing laboratories. | [
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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) Psoriatic Arthritis ? ### Doctor:
Psoriasis is a skin disease that causes itchy or sore patches of thick, red skin with silvery scales. You usually get them on your elbows, knees, scalp, back, face, palms and feet, but they can show up on other parts of your body. Some people with psoriasis have psoriatic arthritis. It causes pain, stiffness, and swelling of the joints. It is often mild, but can sometimes be serious and affect many joints. The joint and skin problems don't always happen at the same time. Your doctor will do a physical exam and imaging tests to diagnose psoriatic arthritis. There is no cure, but medicines can help control inflammation and pain. In rare cases, you might need surgery to repair or replace damaged joints. | [
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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) trichothiodystrophy ? ### Doctor:
Trichothiodystrophy, which is commonly called TTD, is a rare inherited condition that affects many parts of the body. The hallmark of this condition is brittle hair that is sparse and easily broken. Tests show that the hair is lacking sulfur, an element that normally gives hair its strength. The signs and symptoms of trichothiodystrophy vary widely. Mild cases may involve only the hair. More severe cases also cause delayed development, significant intellectual disability, and recurrent infections; severely affected individuals may survive only into infancy or early childhood. Mothers of children with trichothiodystrophy may experience problems during pregnancy including pregnancy-induced high blood pressure (preeclampsia) and a related condition called HELLP syndrome that can damage the liver. | [
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What are the symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type ? ### Doctor:
What are the signs and symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type? The Human Phenotype Ontology provides the following list of signs and symptoms for Ectodermal dysplasia, hidrotic, Christianson-Fourie 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) Abnormal hair quantity 90% Abnormality of the eye 90% Abnormality of the fingernails 90% Aplasia/Hypoplasia of the eyebrow 90% Arrhythmia 7.5% Absent eyebrow - Autosomal dominant inheritance - Bradycardia - Fair hair - Hidrotic ectodermal dysplasia - Nail dystrophy - Paroxysmal supraventricular tachycardia - Short eyelashes - Sparse axillary hair - Sparse pubic hair - Sparse scalp hair - Thick nail - 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) Pelvic Pain ? ### Doctor:
Pelvic pain occurs mostly in the lower abdomen area. The pain might be steady, or it might come and go. If the pain is severe, it might get in the way of your daily activities. If you're a woman, you might feel a dull pain during your period. It could also happen during sex. Pelvic pain can be a sign that there is a problem with one of the organs in your pelvic area, such as the uterus, ovaries, fallopian tubes, cervix or vagina. It could also be a symptom of infection, or a problem with the urinary tract, lower intestines, rectum, muscle or bone. If you're a man, the cause is often a problem with the prostate. You might have to undergo a lot of medical tests to find the cause of the pain. The treatment will depend on the cause, how bad the pain is and how often it occurs. NIH: National Institute of Child Health and Human Development | [
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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 Pars planitis ? ### Doctor:
What causes pars planitis? The exact underlying cause of pars planitis is unknown. Scientists suspect that it is an autoimmune condition in which the body's immune system mistakenly attacks healthy tissues (certain parts of the eyes, in this case). This is further supported by the fact that pars planitis is sometimes associated with other autoimmune conditions such as multiple sclerosis and sarcoidosis. Although most cases occur sporadically in people with no family history of the condition, pars planitis can rarely affect more than one family member. In these cases, there may be a genetic component; however, a disease-causing gene and specific inheritance pattern have not been identified. | [
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What is (are) Lipodermatosclerosis ? ### Doctor:
Lipodermatosclerosis refers to changes in the skin of the lower legs. It is a form of panniculitis (inflammation of the layer of fat under the skin). Signs and symptoms include pain, hardening of skin, change in skin color (redness), swelling, and a tapering of the legs above the ankles. The exact underlying cause is unknown; however, it appears to be associated with venous insufficiency and/or obesity. Treatment usually includes compression 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 genetic changes related to neurofibromatosis type 2 ? ### Doctor:
Mutations in the NF2 gene cause neurofibromatosis type 2. The NF2 gene provides instructions for making a protein called merlin (also known as schwannomin). This protein is produced in the nervous system, particularly in Schwann cells, which surround and insulate nerve cells (neurons) in the brain and spinal cord. Merlin acts as a tumor suppressor, which means that it keeps cells from growing and dividing too rapidly or in an uncontrolled way. Although its exact function is unknown, this protein is likely also involved in controlling cell movement, cell shape, and communication between cells. Mutations in the NF2 gene lead to the production of a nonfunctional version of the merlin protein that cannot regulate the growth and division of cells. | [
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You are a helpful AI Doctor who answers medical questions. Below is a question from a patient. Your task is to answer the questions as truthfully as you can. ### Patient:
Is Autoimmune hemolytic anemia inherited ? ### Doctor:
Is autoimmune hemolytic anemia inherited? In many cases, the cause of autoimmune hemolytic anemia remains unknown. Some researchers believe that there are multiple factors involved, including genetic and environmental influences (multifactorial). In a very small number of cases, autoimmune hemolytic anemia appears to run in families. In these cases, it appears to follow an autosomal recessive pattern of inheritance. If you have concerns about the specific risks in your family, we encourage you to consult with 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:
Is hereditary paraganglioma-pheochromocytoma inherited ? ### Doctor:
Hereditary paraganglioma-pheochromocytoma is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to increase the risk of developing tumors. An additional mutation that deletes the normal copy of the gene is needed to cause the condition. This second mutation, called a somatic mutation, is acquired during a person's lifetime and is present only in tumor cells. The risk of developing hereditary paraganglioma-pheochromocytoma types 1 and 2 is passed on only if the mutated copy of the gene is inherited from the father. The mechanism of this pattern of inheritance is unknown. The risk of developing types 3 and 4 can be inherited from the mother or the father. | [
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what research (or clinical trials) is being done for Spina Bifida ? ### Doctor:
The NINDS supports a broad range of research on neural tube defects such as SB aimed at finding ways to treat, prevent, and, ultimately, cure these disorders. Recent studies have shown that the addition of folic acid to the diet of women of child-bearing age may significantly reduce the incidence of neural tube defects. Therefore it is recommended that all women of child-bearing age consume 400 micrograms of folic acid daily. | [
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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 thiopurine S-methyltransferase deficiency inherited ? ### Doctor:
The activity of the TPMT enzyme is inherited in a pattern described as autosomal codominant. Codominance means that two different versions of the gene are active (expressed), and both versions influence the genetic trait. The TPMT gene can be classified as either low-activity or high-activity. When the gene is altered in a way that impairs the activity of the TPMT enzyme, it is described as low-activity. When the gene is unaltered and TPMT activity is normal, it is described as high-activity. Because two copies of the gene are present in each cell, each person can have two low-activity copies, one low-activity copy and one high-activity copy, or two high-activity copies. People with two low-activity copies of the TPMT gene in each cell have TPMT deficiency and are at the greatest risk of developing hematopoietic toxicity when treated with thiopurine drugs unless they are given much less than the usual dose. | [
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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) Cleidocranial dysplasia ? ### Doctor:
Cleidocranial dysplasia is a condition that primarily affects the development of the bones and teeth. Characteristic features of this condition include underdeveloped or absent collarbones (clavicles) and delayed closing of the spaces between the bones of the skull (fontanels). Individuals with cleidocranial dysplasia may also have decreased bone density (osteopenia), osteoporosis, dental abnormalities, hearing loss, and recurrent sinus and ear infections. Mutations in the RUNX2 gene cause most cases of cleidocranial dysplasia. This condition is inherited in an autosomal dominant pattern. In some cases, a person inherits cleidocranial dysplasia from a parent who also has the condition. Other cases result from new mutations (de novo mutations) in the RUNX2 gene. Dental problems are addressed with several procedures. | [
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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 Thrombocythemia and Thrombocytosis ? ### Doctor:
Primary Thrombocythemia
In this condition, faulty stem cells in the bone marrow make too many platelets. What causes this to happen usually isn't known. When this process occurs without other blood cell disorders, it's called essential thrombocythemia. A rare form of thrombocythemia is inherited. ("Inherited" means the condition is passed from parents to children through the genes.) In some cases, a genetic mutation may cause the condition. In addition to the bone marrow making too many platelets, the platelets also are abnormal in primary thrombocythemia. They may form blood clots or, surprisingly, cause bleeding when they don't work well. Bleeding also can occur because of a condition that develops called von Willebrand disease. This condition affects the blood clotting process. | [
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Subsets and Splits