question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
|---|---|---|---|---|
What are the genetic changes related to cutis laxa ? | Cutis laxa can be caused by mutations in the ATP6V0A2, ATP7A, EFEMP2, ELN, or FBLN5 gene. Most of these genes are involved in the formation and function of elastic fibers, which are slender bundles of proteins that provide strength and flexibility to connective tissue throughout the body. Elastic fibers allow the skin ... | [
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What is (are) Irritable Bowel Syndrome ? | Irritable bowel syndrome (IBS) is a problem that affects the large intestine. It can cause abdominal cramping, bloating, and a change in bowel habits. Some people with the disorder have constipation. Some have diarrhea. Others go back and forth between the two. Although IBS can cause a great deal of discomfort, it does... | [
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What is (are) Takayasu arteritis ? | Takayasu arteritis is a condition that causes inflammation of the main blood vessel that carries blood from the heart to the rest of the body (aorta) and its associated branched blood vessels. As a result of the inflammation, the blood vessel walls become thick and make it difficult for blood to flow. Over time, impair... | [
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What is (are) Male Breast Cancer ? | Although breast cancer is much more common in women, men can get it too. It happens most often to men between the ages of 60 and 70. Breast lumps usually aren't cancer. However, most men with breast cancer have lumps. Other breast symptoms can include - Dimpled or puckered skin - A red, scaly nipple or skin... | [
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what research (or clinical trials) is being done for Progressive Supranuclear Palsy ? | Research is ongoing on Parkinson's and Alzheimer's diseases. Better understanding of those common, related disorders will go a long way toward solving the problem of PSP, just as studying PSP may help shed light on Parkinson's and Alzheimer's diseases. | [
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Is Isobutyryl-CoA dehydrogenase deficiency inherited ? | How is isobutyryl-CoA dehydrogenase deficiency (IBD deficiency) inherited? IBD deficiency 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 ... | [
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What is (are) Colon Cancer ? | Key Points
- Colon cancer is a disease in which malignant (cancer) cells form in the tissues of the colon. - Health history affects the risk of developing colon cancer. - Signs of colon cancer include blood in the stool or a change in bowel habits. - Tests that examine the colon and rectum ... | [
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What are the treatments for Alopecia universalis ? | How might alopecia universalis be treated? Although these is no therapy approved for the treatment of alopecia universalis, some people find that medications approved for other purposes may help hair grow back, at least temporarily. Since alopecia universalis is one of the more severe types of alopecia areata, treatmen... | [
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Is pilomatricoma inherited ? | Most people with isolated pilomatricoma do not have any other affected family members. However, rare families with multiple affected members have been reported. In these cases, the inheritance pattern of the condition (if any) is unknown. | [
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What is the outlook for Coma ? | The outcome for coma and persistent vegetative state depends on the cause, severity, and site of neurological damage. Individuals may emerge from coma with a combination of physical, intellectual, and psychological difficulties that need special attention. Recovery usually occurs gradually, with some acquiring more and... | [
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What is (are) Speech and Communication Disorders ? | Many disorders can affect our ability to speak and communicate. They range from saying sounds incorrectly to being completely unable to speak or understand speech. Causes include - Hearing disorders and deafness - Voice problems, such as dysphonia or those caused by cleft lip or palate - Speech problems li... | [
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Is warfarin resistance inherited ? | The polymorphisms associated with this condition are inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to result in warfarin resistance. However, different polymorphisms affect the activity of warfarin to varying degrees. Additionally, people who have more t... | [
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How to diagnose Olivopontocerebellar atrophy ? | How is olivopontocerebellar atrophy diagnosed? A diagnosis of olivopontocerebellar atrophy (OPCA) may be based on a thorough medical exam; the presence of signs and symptoms; imaging studies; various laboratory tests; and an evaluation of the family history. MRI of the brain may show characteristics of OPCA, such as sp... | [
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What is (are) head and neck squamous cell carcinoma ? | Squamous cell carcinoma is a cancer that arises from particular cells called squamous cells. Squamous cells are found in the outer layer of skin and in the mucous membranes, which are the moist tissues that line body cavities such as the airways and intestines. Head and neck squamous cell carcinoma (HNSCC) develops in ... | [
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What are the treatments for Schnitzler syndrome ? | How might Schnitzler syndrome be treated? The treatment of Schnitzler syndrome is aimed at alleviating the signs and symptoms associated with the condition. The following medications have been used with variable success: Nonsteroidal anti-inflammatory drugs (NSAIDs) Corticosteroids Immunosuppressive agents Interleukin-... | [
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What are the symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa ? | What are the signs and symptoms of Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa? The Human Phenotype Ontology provides the following list of signs and symptoms for Rhizomelic dysplasia, scoliosis, and retinitis pigmentosa. If the information is available, the table below includes how often the symptom is s... | [
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What is (are) Chromosome 8q deletion ? | Chromosome 8q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 8. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occu... | [
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What are the symptoms of Multiple self healing squamous epithelioma ? | What are the signs and symptoms of Multiple self healing squamous epithelioma? The Human Phenotype Ontology provides the following list of signs and symptoms for Multiple self healing squamous epithelioma. If the information is available, the table below includes how often the symptom is seen in people with this condit... | [
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Is Kleefstra syndrome inherited ? | The inheritance of Kleefstra syndrome is considered to be autosomal dominant because a deletion in one copy of chromosome 9 in each cell or a mutation in one copy of the EHMT1 gene is sufficient to cause the condition. Most cases of Kleefstra syndrome are not inherited, however. The genetic change occurs most often as ... | [
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How to diagnose Systemic scleroderma ? | Is genetic testing available for systemic scleroderma? Because systemic scleroderma is not caused by a mutation in any one specific gene, clinical genetic testing to confirm a diagnosis or identify a "carrier" is not currently available. Even if someone is known to carry a version of a gene that may make them suscepti... | [
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What are the treatments for Adiposis dolorosa ? | How might adiposis dolorosa be treated? Management of adiposis dolorosa is difficult and no currently available treatments have led to long-lasting, complete pain reduction. Weight reduction, surgical removal of particularly burdensome lesions, and/or liposuction may be helpful for some people. There is currently no dr... | [
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Is aspartylglucosaminuria inherited ? | 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) Alpha-thalassemia ? | Alpha-thalassemia is a blood disorder that reduces the body's production of hemoglobin. Affected people have anemia, which can cause pale skin, weakness, fatigue, and more serious complications. Two types of alpha-thalassemia can cause health problems: the more severe type is known as Hb Bart syndrome; the milder form ... | [
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What to do for Cushing's Syndrome ? | - Cushing's syndrome is a disorder caused by prolonged exposure of the body's tissues to high levels of the hormone cortisol. - Typical signs and symptoms of Cushing's syndrome include upper body obesity, a rounded face, skin that bruises easily and heals poorly, weakened bones, excess body hair growth and menstrual i... | [
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Is Down syndrome inherited ? | Most cases of Down syndrome are not inherited. When the condition is caused by trisomy 21, the chromosomal abnormality occurs as a random event during the formation of reproductive cells in a parent. The abnormality usually occurs in egg cells, but it occasionally occurs in sperm cells. An error in cell division called... | [
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What is (are) hereditary sensory and autonomic neuropathy type V ? | Hereditary sensory and autonomic neuropathy type V (HSAN5) is a condition that primarily affects the sensory nerve cells (sensory neurons), which transmit information about sensations such as pain, temperature, and touch. These sensations are impaired in people with HSAN5. The signs and symptoms of HSAN5 appear early,... | [
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What to do for Sexual and Urologic Problems of Diabetes ? | The nerve damage of diabetes may cause sexual or urologic problems.
- Sexual problems in men with diabetes include - erectile dysfunction - retrograde ejaculation - Sexual problems in women with diabetes include - decreased vaginal lubrication and uncomfortable or painful intercourse ... | [
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What is (are) Gliomatosis cerebri ? | Gliomatosis cerebri is a type of brain cancer. It is a variant form of glioblastoma multiforme. It is characterized by scattered and widespread tumor cells that can cause the cerebrum, cerebellum, or brain stem to enlarge. Signs and symptoms may include personality changes, memory disturbance, headache, hemiparesis, a... | [
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What are the treatments for Skin Cancer ? | Key Points
- There are different types of treatment for patients with nonmelanoma skin cancer and actinic keratosis. - Six types of standard treatment are used: - Surgery - Radiation therapy - Chemotherapy - Photodynamic therapy - Biologic therapy - Targeted therap... | [
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Is Simpson-Golabi-Behmel syndrome inherited ? | This condition is inherited in an X-linked pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes in each cell. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the... | [
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Is Alpha-thalassemia inherited ? | How is alpha-thalassemia inherited? The inheritance of alpha-thalassemia is complex because the condition involves two genes: HBA1 and HBA2. People have two copies of the HBA1 gene and two copies of the HBA2 gene in each cell. Each copy is called an allele. Therefore, there are 4 alleles that produce alpha-globin, the ... | [
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What are the symptoms of Skin fragility-woolly hair-palmoplantar keratoderma syndrome ? | What are the signs and symptoms of Skin fragility-woolly hair-palmoplantar keratoderma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Skin fragility-woolly hair-palmoplantar keratoderma syndrome. If the information is available, the table below includes how often the sympto... | [
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What is (are) C syndrome ? | C syndrome, also known as Opitz trigonocephaly syndrome, is characterized by trigonocephaly, severe intellectual disability, hypotonia, variable cardiac defects, redundant (extra folds of) skin, joint and limb abnormalities, and unusual facial features such as upslanted palpebral fissures (upward pointing outside corne... | [
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What are the treatments for Brooke-Spiegler syndrome ? | These resources address the diagnosis or management of Brooke-Spiegler syndrome: - Genetic Testing Registry: Spiegler-Brooke syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery and Rehabilitation ... | [
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What are the symptoms of Keratosis, seborrheic ? | What are the signs and symptoms of Keratosis, seborrheic? The Human Phenotype Ontology provides the following list of signs and symptoms for Keratosis, seborrheic. 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 D... | [
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What are the treatments for Congenital laryngeal palsy ? | What treatment is available for congenital laryngeal paralysis? The most common treatments for vocal fold paralysis are voice therapy and surgery. Some people's voices will naturally recover sometime during the first year after diagnosis, which is why doctors often delay surgery for at least a year. During this time, a... | [
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What causes Cleidocranial dysplasia ? | What causes cleidocranial dysplasia? Cleidocranial dysplasia is caused by mutations in the RUNX2 (CBFA1) gene. The RUNX2 gene provides instructions for making a protein that is involved in bone and cartilage development and maintenance. Researchers believe that the RUNX2 protein acts as a "master switch," regulating a ... | [
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Is Baraitser-Winter syndrome inherited ? | This condition is described as autosomal dominant, which means one copy of the altered gene in each cell is sufficient to cause the disorder. The condition almost always results from new (de novo) mutations in the ACTB or ACTG1 gene and occurs in people with no history of the disorder in their family. | [
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What are the treatments for autosomal recessive hypotrichosis ? | These resources address the diagnosis or management of autosomal recessive hypotrichosis: - American Academy of Dermatology: Hair Loss: Tips for Managing - Genetic Testing Registry: Hypotrichosis 8 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: -... | [
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What are the treatments for Neurological Complications of AIDS ? | No single treatment can cure the neurological complications of AIDS. Some disorders require aggressive therapy while others are treated symptomatically.
Medicines range from analgesics sold over the counter to antiepileptic drugs, opiates, corticosteroids, and some classes of antidepressants. Other tre... | [
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What are the treatments for familial dysautonomia ? | These resources address the diagnosis or management of familial dysautonomia: - Gene Review: Gene Review: Familial Dysautonomia - Genetic Testing Registry: Familial dysautonomia - MedlinePlus Encyclopedia: Riley-Day Syndrome These resources from MedlinePlus offer information about the diagnosis and management of v... | [
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What is (are) Osteoporosis ? | Millions of Americans are able to lead healthy, productive lives while living with osteoporosis. If you have been feeling symptoms of depressionsuch as loss of appetite, hopelessness, feeling useless and helpless, or having thoughts of suicidefor more than 2 weeks, consult a doctor, social worker, or therapist. Medicat... | [
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What is the outlook for Hairy Cell Leukemia ? | Certain factors affect treatment options and prognosis (chance of recovery). The treatment options may depend on the following: - The number of hairy (leukemia) cells and healthy blood cells in the blood and bone marrow. - Whether the spleen is swollen. - Whether there are signs or symptoms of leukemia, s... | [
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what research (or clinical trials) is being done for Glaucoma ? | Through studies in the laboratory and with patients, the National Eye Institute is seeking better ways to detect, treat, and prevent vision loss in people with glaucoma. For example, researchers have discovered genes that could help explain how glaucoma damages the eye. NEI also is supporting studies to learn more abou... | [
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What are the genetic changes related to juvenile primary lateral sclerosis ? | Mutations in the ALS2 gene cause most cases of juvenile primary lateral sclerosis. This gene provides instructions for making a protein called alsin. Alsin is abundant in motor neurons, but its function is not fully understood. Mutations in the ALS2 gene alter the instructions for producing alsin. As a result, alsin is... | [
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What causes Autoimmune hemolytic anemia ? | What causes autoimmune hemolytic anemia? In about half of cases, the cause of autoimmune hemolytic anemia cannot be determined (idiopathic or primary). This condition can also be caused by or occur with another disorder (secondary) or rarely, occur following the use of certain drugs (such as penicillin) or after a pers... | [
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What are the symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction ? | What are the signs and symptoms of Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction? The Human Phenotype Ontology provides the following list of signs and symptoms for Cervical ribs, Sprengel anomaly, anal atresia, and urethral obstruction. If the information is available, the table below include... | [
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Is periventricular heterotopia inherited ? | Periventricular heterotopia can have different inheritance patterns. When this condition is caused by mutations in the FLNA gene, it is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosom... | [
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Who is at risk for Electrocardiogram? ? | An electrocardiogram (EKG) has no serious risks. It's a harmless, painless test that detects the heart's electrical activity. EKGs don't give off electrical charges, such as shocks.
You may develop a mild rash where the electrodes (soft patches) were attached. This rash often goes away without treatmen... | [
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What is (are) Colorectal Cancer ? | Several types of surgery are available for someone with colorectal cancer. If the cancer is found at a very early stage, the doctor may remove it without cutting through the abdominal wall. Instead, the doctor may put a tube up the rectum into the colon and cut the cancer out. This is called a local excision. If the ca... | [
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How many people are affected by histidinemia ? | Estimates of the incidence of histidinemia vary widely, ranging between 1 in 8,600 to 1 in 90,000 people. | [
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What are the treatments for lactose intolerance ? | These resources address the diagnosis or management of lactose intolerance: - Genetic Testing Registry: Congenital lactase deficiency - Genetic Testing Registry: Nonpersistence of intestinal lactase - MedlinePlus Encyclopedia: Lactose Intolerance - MedlinePlus Encyclopedia: Lactose Tolerance Tests These resources... | [
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What is (are) Atherosclerosis ? | Espaol
Atherosclerosis is a disease in which plaque builds up inside your arteries. Arteries are blood vessels that carry oxygen-rich blood to your heart and other parts of your body.
Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, pl... | [
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Is congenital cataracts, facial dysmorphism, and neuropathy inherited ? | 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 Congenital bilateral absence of the vas deferens ? | What causes congenital bilateral absence of the vas deferens (CBAVD)? More than half of all men with CBAVD have mutations in the CFTR gene. Mutations in this gene also cause cystic fibrosis. When CBAVD occurs with CFTR mutations, it is considered a form of atypical cystic fibrosis. In instances of CBAVD without a mutat... | [
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What are the genetic changes related to Emanuel syndrome ? | Emanuel syndrome is caused by the presence of extra genetic material from chromosome 11 and chromosome 22 in each cell. In addition to the usual 46 chromosomes, people with Emanuel syndrome have an extra (supernumerary) chromosome consisting of a piece of chromosome 11 attached to a piece of chromosome 22. The extra ch... | [
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What are the symptoms of Osteoporosis-pseudoglioma syndrome ? | What are the signs and symptoms of Osteoporosis-pseudoglioma syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Osteoporosis-pseudoglioma syndrome. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use... | [
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What are the treatments for Ehlers-Danlos syndrome ? | How might Ehlers-Danlos syndrome be treated? There is no specific cure for Ehlers-Danlos syndrome (EDS). The treatment and management is focused on preventing serious complications and relieving associated signs and symptoms. Because the features of EDS vary by subtype, management strategies differ slightly. For more s... | [
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What are the genetic changes related to Coffin-Siris syndrome ? | Coffin-Siris syndrome is caused by mutations in the ARID1A, ARID1B, SMARCA4, SMARCB1, or SMARCE1 gene. Each of these genes provides instructions for making one piece (subunit) of several different SWI/SNF protein complexes. SWI/SNF complexes regulate gene activity (expression) by a process known as chromatin remodeling... | [
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What are the symptoms of ARDS ? | The first signs and symptoms of ARDS are feeling like you can't get enough air into your lungs, rapid breathing, and a low blood oxygen level.
Other signs and symptoms depend on the cause of ARDS. They may occur before ARDS develops. For example, if pneumonia is causing ARDS, you may have a cough and f... | [
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What are the treatments for porphyria ? | These resources address the diagnosis or management of porphyria: - Gene Review: Gene Review: Acute Intermittent Porphyria - Gene Review: Gene Review: Congenital Erythropoietic Porphyria - Gene Review: Gene Review: Erythropoietic Protoporphyria, Autosomal Recessive - Gene Review: Gene Review: Hereditary Coproporphy... | [
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What to do for What I need to know about Living with Kidney Failure ? | Eating the right foods can help you feel better when you are on dialysis or have a kidney transplant. Staying healthy with kidney failure requires watching how much of these elements are included in your diet:
- Protein is in many foods you eat. Protein is in foods from animals and plants. Most diets i... | [
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What is (are) X-linked infantile nystagmus ? | X-linked infantile nystagmus is a condition characterized by abnormal eye movements. Nystagmus is a term that refers to involuntary side-to-side movements of the eyes. In people with this condition, nystagmus is present at birth or develops within the first six months of life. The abnormal eye movements may worsen when... | [
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Is age-related macular degeneration inherited ? | Age-related macular degeneration usually does not have a clear-cut pattern of inheritance, although the condition appears to run in families in some cases. An estimated 15 to 20 percent of people with age-related macular degeneration have at least one first-degree relative (such as a sibling) with the condition. | [
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What is (are) Frontotemporal dementia ? | Frontotemporal dementia describes a group of conditions associated with shrinking of the frontal and temporal anterior lobes of the brain. Symptoms include either variable changes in behavior (e.g., impulsive, bored, listless, lack of social contact, lack of empathy, distractibility, blunted emotions, compulsive behavi... | [
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How to diagnose Vesicoureteral Reflux ? | Following diagnosis, children with VUR should have a general medical evaluation that includes blood pressure measurement, as high blood pressure is an indicator of kidney damage. If both kidneys are affected, a childs blood should be tested for creatininea waste product of normal muscle breakdown. Healthy kidneys remov... | [
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What is (are) Citrullinemia type I ? | Citrullinemia type I is an inherited disorder that causes ammonia and other toxic substances to accumulate in the blood. This condition, also known as classic citrullinemia, belongs to a class of genetic diseases called urea cycle disorders. In most cases, the condition becomes evident in the first few days of life. Af... | [
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What is (are) Urachal cyst ? | Urachal cyst is a sac-like pocket of tissue that develops in the urachus, a primitive structure that connects the umbilical cord to the bladder in the developing baby. Although it normally disappears prior to birth, part of the urachus may remain in some people. Urachal cysts can develop at any age, but typically affec... | [
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What is (are) Barth syndrome ? | Barth syndrome is a rare condition characterized by an enlarged and weakened heart (dilated cardiomyopathy), weakness in muscles used for movement (skeletal myopathy), recurrent infections due to small numbers of white blood cells (neutropenia), and short stature. Barth syndrome occurs almost exclusively in males. In ... | [
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What are the treatments for Pyruvate dehydrogenase deficiency ? | How might pyruvate dehydrogenase deficiency be treated? Treatment of pyruvate dehydrogenase (PDH) deficiency rarely influences the course of the disease, but goals include stimulating the pyruvate dehydrogenase complex (PDHC), providing alternative sources of energy, and preventing immediate, acute worsening of the con... | [
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What is the outlook for Rasmussen's Encephalitis ? | The prognosis for individuals with Rasmussens encephalitis varies. Despite the advances in medical treatment, none has yet been shown to halt the progress of the disease in the long term. The disorder may lead to severe neurological deficits or it may cause only milder impairments. For some children, surgery decreases ... | [
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What are the genetic changes related to Rotor syndrome ? | The SLCO1B1 and SLCO1B3 genes are involved in Rotor syndrome. Mutations in both genes are required for the condition to occur. The SLCO1B1 and SLCO1B3 genes provide instructions for making similar proteins, called organic anion transporting polypeptide 1B1 (OATP1B1) and organic anion transporting polypeptide 1B3 (OATP1... | [
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What are the symptoms of Tourette syndrome ? | What are the signs and symptoms of Tourette syndrome? The early symptoms of Tourette syndrome are almost always noticed first in childhood, with the average onset between the ages of 3 and 9 years. Although the symptoms of Tourette syndrome vary from person to person and range from very mild to severe, the majority of ... | [
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What are the treatments for Acanthamoeba - Granulomatous Amebic Encephalitis (GAE); Keratitis ? | Early diagnosis is essential for effective treatment of Acanthamoeba keratitis. Several prescription eye medications are available for treatment. However, the infection can be difficult to treat. The best treatment regimen for each patient should be determined by an eye doctor. If you suspect your eye may be infected w... | [
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Is Schizencephaly inherited ? | Is schizencephaly inherited? Schizencephaly is not thought to be inherited in most cases and it rarely affects more than one person in a family. A few cases of familial schizencephaly have been linked to changes (mutations) in the EMX2 gene. | [
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Is neuroferritinopathy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the mutation from one affected parent. Other cases may result from new mutations in the gene. These cases occur in people w... | [
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How many people are affected by autosomal recessive hypotrichosis ? | The worldwide prevalence of autosomal recessive hypotrichosis is unknown. In Japan, the condition is estimated to affect 1 in 10,000 individuals. | [
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What is (are) Proteus syndrome ? | Proteus syndrome is a rare condition characterized by overgrowth of the bones, skin, and other tissues. Organs and tissues affected by the disease grow out of proportion to the rest of the body. The overgrowth is usually asymmetric, which means it affects the right and left sides of the body differently. Newborns with ... | [
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What are the genetic changes related to SOX2 anophthalmia syndrome ? | Mutations in the SOX2 gene cause SOX2 anophthalmia syndrome. This gene provides instructions for making a protein that plays a critical role in the formation of many different tissues and organs during embryonic development. The SOX2 protein regulates the activity of other genes, especially those that are important for... | [
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Do you have information about Food Safety | Summary : Safe steps in food handling, cooking, and storage can prevent foodborne illness. There are four basic steps to food safety at home: - Clean - always wash your fruits and vegetables, hands, counters, and cooking utensils. - Separate - keep raw foods to themselves. Germs can spread from one food to ano... | [
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What are the symptoms of Familial erythema nodosum ? | What are the signs and symptoms of Familial erythema nodosum? The Human Phenotype Ontology provides the following list of signs and symptoms for Familial erythema nodosum. 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 M... | [
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How many people are affected by triple A syndrome ? | Triple A syndrome is a rare condition, although its exact prevalence is unknown. | [
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What are the symptoms of Diabetic mastopathy ? | What are the symptoms of diabetic mastopathy? Common symptoms of diabetic mastopathy include hard, irregular, easily movable, discrete, painless breast mass(es). This condition can involve one or both breasts and can affect males and females. The breast lesions may not be palpable in some patients. Patients with diabet... | [
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What are the symptoms of Tukel syndrome ? | What are the signs and symptoms of Tukel syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Tukel 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 l... | [
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What is (are) Childhood Extracranial Germ Cell Tumors ? | Key Points
- Childhood extracranial germ cell tumors form from germ cells in parts of the body other than the brain. - Childhood extracranial germ cell tumors may be benign or malignant. - There are three types of extracranial germ cell tumors. - Mature Teratomas - Immature Terato... | [
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How many people are affected by succinyl-CoA:3-ketoacid CoA transferase deficiency ? | The prevalence of SCOT deficiency is unknown. More than 20 cases of this condition have been reported in the scientific literature. | [
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What are the symptoms of Townes-Brocks syndrome ? | What are the signs and symptoms of Townes-Brocks syndrome? Townes-Brocks syndrome is characterized by an obstruction of the anal opening (imperforate anus), abnormally shaped ears, and hand malformations that most often affect the thumbs. Most people with this condition have at least two of these three major features. ... | [
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What are the symptoms of Ollier disease ? | What are the signs and symptoms of Ollier disease? Clinical manifestations in Ollier disease often appear in the first decade of life and usually start with the appearance of palpable bony masses on a finger or a toe, an asymetric shortening of an extremity with limping, and skeletal deformities which may be associated... | [
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What are the treatments for Joubert Syndrome ? | Treatment for Joubert syndrome is symptomatic and supportive. Infant stimulation and physical, occupational, and speech therapy may benefit some children. Infants with abnormal breathing patterns should be monitored. Screening for progressive eye, liver, and kidney complications associated with Joubert-related disorder... | [
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What are the genetic changes related to familial isolated pituitary adenoma ? | FIPA can be caused by mutations in the AIP gene. The function of the protein produced from this gene is not well understood, but it is thought to act as a tumor suppressor, which means it helps prevent cells from growing and dividing in an uncontrolled way. Mutations in the AIP gene alter the protein or reduce the prod... | [
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What are the genetic changes related to alkaptonuria ? | Mutations in the HGD gene cause alkaptonuria. The HGD gene provides instructions for making an enzyme called homogentisate oxidase. This enzyme helps break down the amino acids phenylalanine and tyrosine, which are important building blocks of proteins. Mutations in the HGD gene impair the enzyme's role in this process... | [
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What are the symptoms of Opsismodysplasia ? | What are the signs and symptoms of Opsismodysplasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Opsismodysplasia. 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 ... | [
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What causes Pericarditis ? | In many cases, the cause of pericarditis (both acute and chronic) is unknown.
Viral infections are likely a common cause of pericarditis, although the virus may never be found. Pericarditis often occurs after a respiratory infection. Bacterial, fungal, and other infections also can cause pericarditis.
... | [
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What causes Fecal Incontinence ? | Fecal incontinence has many causes, including
- diarrhea - constipation - muscle damage or weakness - nerve damage - loss of stretch in the rectum - childbirth by vaginal delivery - hemorrhoids and rectal prolapse - rectocele - inactivity
Diarrhea
Diarrhea can ... | [
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What are the symptoms of Neutropenia chronic familial ? | What are the signs and symptoms of Neutropenia chronic familial? The Human Phenotype Ontology provides the following list of signs and symptoms for Neutropenia chronic familial. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the Medline... | [
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What are the treatments for Alternating Hemiplegia ? | Drug therapy including verapamil may help to reduce the severity and duration of attacks of paralysis associated with the more serious form of alternating hemiplegia | [
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How many people are affected by beta-ureidopropionase deficiency ? | The prevalence of beta-ureidopropionase deficiency is unknown. A small number of affected individuals from populations around the world have been described in the medical literature. In Japan, the prevalence of beta-ureidopropionase deficiency has been estimated as 1 in 6,000 people. Researchers suggest that in many af... | [
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What are the treatments for multiple system atrophy ? | These resources address the diagnosis or management of multiple system atrophy: - Genetic Testing Registry: Shy-Drager syndrome - Vanderbilt Autonomic Dysfunction Center These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... | [
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What causes Froelich syndrome ? | What causes Froelich syndrome? Froehlich syndrome is usually caused by lesions in the hypothalamic gland or pituitary gland. The lesions may be caused by a tumor (e.g., craniopharyngioma), swelling from an infection (e.g., tuberculosis), encephalitis, or other brain injuries. | [
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What is (are) Idiopathic neutropenia ? | Idiopathic neutropenia is an acquired form of severe chronic neutropenia whose cause is unknown. Neutropenia is a blood condition that causes a reduced number or complete absence of neutrophils, a type of white blood cell that is responsible for much of the body's protection against infection. Symptoms include fever, m... | [
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