question stringlengths 16 191 | answer stringlengths 6 29k | input_ids list | attention_mask list | labels list |
|---|---|---|---|---|
What is the outlook for Iniencephaly ? | The prognosis for infants with iniencephaly is extremely poor. Newborns seldom survive much past childbirth. The distortions of the babys body also pose a danger to the mother's life during delivery. | [
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What are the genetic changes related to familial atrial fibrillation ? | A small percentage of all cases of familial atrial fibrillation are associated with changes in the KCNE2, KCNJ2, and KCNQ1 genes. These genes provide instructions for making proteins that act as channels across the cell membrane. These channels transport positively charged atoms (ions) of potassium into and out of cell... | [
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What causes Pyruvate kinase deficiency ? | What causes pyruvate kinase deficiency? In most cases, pyruvate kinase deficiency is caused by mutations in the PKLR gene. More than 100 different mutation in the PKLR gene have been detected. Medical conditions, such as acute leukemia, preleukemia, and refractory sideroblastic anemia, as well as complications from che... | [
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What are the treatments for Mnire's disease ? | How might Mnire's disease be treated? At the present time there is no cure for Mnire's disease, but there are several safe and effective medical and surgical therapies that are available to help individuals cope with the symptoms. The symptoms of the disease are often controlled successfully by reducing the bodys reten... | [
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Do you have information about Bowel Movement | Summary : A bowel movement is the last stop in the movement of food through your digestive tract. Your stool passes out of your body through the rectum and anus. Another name for stool is feces. It is made of what is left after your digestive system (stomach, small intestine, and colon) absorbs nutrients and fluids fro... | [
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Is cholesteryl ester storage disease 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 are the genetic changes related to restless legs syndrome ? | Restless legs syndrome likely results from a combination of genetic and environmental factors, many of which are unknown. Studies suggest that restless legs syndrome is related to a shortage (deficiency) of iron in certain parts of the brain. Iron is involved in several critical activities in brain cells, including th... | [
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What are the treatments for Adrenoleukodystrophy ? | Adrenal function must be tested periodically in all patients with ALD. Treatment with adrenal hormones can be lifesaving. Symptomatic and supportive treatments for ALD include physical therapy, psychological support, and special education. Recent evidence suggests that a mixture of oleic acid and erucic acid, known as ... | [
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Is distal myopathy 2 inherited ? | Distal myopathy 2 is inherited in an autosomal dominant pattern, which means one copy of the altered MATR3 gene in each cell is sufficient to cause the disorder. | [
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What are the symptoms of Pyruvate carboxylase deficiency ? | What are the signs and symptoms of Pyruvate carboxylase deficiency? The Human Phenotype Ontology provides the following list of signs and symptoms for Pyruvate carboxylase deficiency. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use the M... | [
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What are the stages of Childhood Extracranial Germ Cell Tumors ? | Key Points
- After a childhood extracranial germ cell tumor has been diagnosed, tests are done to find out if cancer cells have spread from where the tumor started to nearby areas or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from w... | [
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What is (are) polycystic kidney disease ? | Polycystic kidney disease is a disorder that affects the kidneys and other organs. Clusters of fluid-filled sacs, called cysts, develop in the kidneys and interfere with their ability to filter waste products from the blood. The growth of cysts causes the kidneys to become enlarged and can lead to kidney failure. Cysts... | [
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Is Osteogenesis imperfecta inherited ? | How is osteogenesis imperfecta inherited? Osteogenesis imperfecta (OI) is most commonly inherited in an autosomal dominant manner. This means that having only one changed (mutated) copy of the responsible gene in each cell is enough to cause features of OI. The mutated copy of the gene may be inherited from an affected... | [
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What are the symptoms of Purpura simplex ? | What are the signs and symptoms of Purpura simplex? The Human Phenotype Ontology provides the following list of signs and symptoms for Purpura simplex. 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... | [
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What is (are) isodicentric chromosome 15 syndrome ? | Isodicentric chromosome 15 syndrome is a developmental disorder with a broad spectrum of features. The signs and symptoms vary among affected individuals. Poor muscle tone is commonly seen in individuals with isodicentric chromosome 15 syndrome and contributes to delayed development and impairment of motor skills, inc... | [
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What are the symptoms of Acrorenal mandibular syndrome ? | What are the signs and symptoms of Acrorenal mandibular syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Acrorenal mandibular 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 Medli... | [
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How to diagnose MTHFR gene mutation ? | Is genetic testing available to detect MTHFR gene mutations? Yes. Genetic testing is available for MTHFR gene mutations. This testing can be used in people with suspected homocystinuria or to determine the cause of elevated homocysteine levels in the blood. Genetic testing for C677T and A1286C may be indicated in a per... | [
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What are the treatments for congenital insensitivity to pain ? | These resources address the diagnosis or management of congenital insensitivity to pain: - Genetic Testing Registry: Indifference to pain, congenital, autosomal recessive These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Th... | [
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What is (are) Porphyria ? | Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the form of hemoglobin, found in red blood cells and bone marrow. Hemoglobin carries oxygen from the lungs to all parts of the body. In the liver, heme is a com... | [
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How to diagnose Pierson syndrome ? | Is genetic testing available for Pierson syndrome? Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should c... | [
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What are the treatments for Dry Mouth ? | Dry mouth treatment will depend on what is causing the problem. If you think you have dry mouth, see your dentist or physician. He or she can help to determine what is causing your dry mouth. If your dry mouth is caused by medicine, your physician might change your medicine or adjust the dosage. If your salivary glands... | [
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What is the outlook for Cerebral Aneurysms ? | The prognosis for a individual with a ruptured cerebral aneurysm depends on the location of the aneurysm, extent of bleeding or rebleeding, the person's age, general health, pre-existing neurological conditions, adn time between rupture and medical attention. Early diagnosis and treatment are important. A burst cerebra... | [
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What are the genetic changes related to episodic ataxia ? | Episodic ataxia can be caused by mutations in several genes that play important roles in the nervous system. Three of these genes, KCNA1, CACNA1A, and CACNB4, provide instructions for making proteins that are involved in the transport of charged atoms (ions) across cell membranes. The movement of these ions is critical... | [
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What are the treatments for Primary hyperoxaluria type 2 ? | How might primary hyperoxaluria type 2 be treated? The current management strategy includes high fluid intake, treatment with inhibitors of calcium oxalate crystallization, and temporary intensive dialysis for end-stage renal disease (ESRD) followed by kidney transplantation. Varying success has been reported following... | [
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What is (are) Prolactinoma ? | The pituitary gland, sometimes called the master gland, plays a critical role in regulating growth and development, metabolism, and reproduction. It produces prolactin and other key hormones including
- growth hormone, which regulates growth - adrenocorticotropin (ACTH), which stimulates the adrenal g... | [
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What are the treatments for Brown syndrome ? | How might Brown syndrome be treated? Treatment recommendations vary depending on the cause and severity of the condition. In mild cases, a watch and wait approach may be sufficient. Visual acuity should be monitored. First line therapy usually involves less invasive options such as nonsteroidal anti-inflammatory medica... | [
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What are the treatments for neonatal onset multisystem inflammatory disease ? | These resources address the diagnosis or management of NOMID: - Genetic Testing Registry: Chronic infantile neurological, cutaneous and articular syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug Therapy - Surgery... | [
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Do you have information about African American Health | Summary : Every racial or ethnic group has specific health concerns. Differences in the health of groups can result from - Genetics - Environmental factors - Access to care - Cultural factors On this page, you'll find links to health issues that affect African Americans. | [
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What are the symptoms of Lenz Majewski hyperostotic dwarfism ? | What are the signs and symptoms of Lenz Majewski hyperostotic dwarfism? The Human Phenotype Ontology provides the following list of signs and symptoms for Lenz Majewski hyperostotic dwarfism. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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Is factor XIII deficiency inherited ? | Inherited factor XIII deficiency is considered to have an autosomal recessive pattern of inheritance, which means that it results when both copies of either the F13A1 gene or the F13B gene in each cell have mutations. Some people, including parents of individuals with factor XIII deficiency, carry a single mutated cop... | [
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Is Liddle syndrome inherited ? | How is Liddle syndrome inherited? Liddle syndrome is inherited in an autosomal dominant manner. This means that only one mutated copy of the disease-causing gene in each cell is sufficient to cause the condition. The mutated copy of the gene may be inherited from an affected parent or occur for the first time in an aff... | [
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What is (are) microvillus inclusion disease ? | Microvillus inclusion disease is a condition characterized by chronic, watery, life-threatening diarrhea typically beginning in the first hours to days of life. Rarely, the diarrhea starts around age 3 or 4 months. Food intake increases the frequency of diarrhea. Microvillus inclusion disease prevents the absorption o... | [
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What are the genetic changes related to arterial tortuosity syndrome ? | Arterial tortuosity syndrome is caused by mutations in the SLC2A10 gene. This gene provides instructions for making a protein called GLUT10. The level of GLUT10 appears to be involved in the regulation of a process called the transforming growth factor-beta (TGF-) signaling pathway. This pathway is involved in cell gro... | [
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What are the treatments for Colpocephaly ? | There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles. | [
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What is (are) Familial mixed cryoglobulinemia ? | Familial mixed cryoglobulinemia is a rare condition that is characterized by the presence of abnormal proteins (called cryoglobulins) in the blood. These proteins clump together into a "gel-like" consistency at low temperatures, which can lead to inflammation, blocked blood vessels, and a variety of health problems. Th... | [
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What is (are) Burns ? | A burn is damage to your body's tissues caused by heat, chemicals, electricity, sunlight or radiation. Scalds from hot liquids and steam, building fires and flammable liquids and gases are the most common causes of burns. Another kind is an inhalation injury, caused by breathing smoke. There are three types of burns... | [
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What are the genetic changes related to antiphospholipid syndrome ? | The genetic cause of antiphospholipid syndrome is unknown. This condition is associated with the presence of three abnormal immune proteins (antibodies) in the blood: lupus anticoagulant, anticardiolipin, and anti-B2 glycoprotein I. Antibodies normally bind to specific foreign particles and germs, marking them for dest... | [
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How to diagnose Peters plus syndrome ? | Is there genetic testing available for Peters plus syndrome? Genetic testing is available for Peters plus syndrome. Click here to obtain a list of clinical laboratories offering genetic testing. Carrier testing for at-risk family members and prenatal diagnosis for pregnancies at increased risk are possible if the disea... | [
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What are the treatments for histiocytosis-lymphadenopathy plus syndrome ? | These resources address the diagnosis or management of histiocytosis-lymphadenopathy plus syndrome: - Genetic Testing Registry: Histiocytosis-lymphadenopathy plus syndrome These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug T... | [
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What is (are) Multiple system atrophy ? | Multiple system atrophy (MSA) is a progressive neurodegenerative disorder characterized by symptoms of autonomic nervous system failure such as fainting spells and bladder control problems, combined with motor control symptoms such as tremor, rigidity, and loss of muscle coordination. MSA affects both men and women pr... | [
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What is (are) Cockayne syndrome type III ? | Cockayne syndrome is a rare condition which causes short stature, premature aging (progeria), severe photosensitivity, and moderate to severe learning delay. This syndrome also includes failure to thrive in the newborn, microcephaly, and impaired nervous system development. Other symptoms may include hearing loss, toot... | [
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What is (are) Trisomy 2 mosaicism ? | Trisomy 2 mosaicism is a rare chromosome condition caused by the presence of an extra copy of chromosome 2 in a subset of a persons cells. Many cases of trisomy 2 mosaicism result in spontaneous abortion or miscarriage during pregnancy. In live born infants, signs and symptoms vary widely but generally include poor gro... | [
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Is 3-hydroxyacyl-CoA dehydrogenase deficiency 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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How to diagnose Shingles ? | A typical shingles case is easy to diagnose. A healthcare provider might suspect shingles if - the rash is only on one side of the body - the rash erupts along one of the many nerve paths, called dermatomes, that stem from the spine. the rash is only on one side of the body the rash erupts along one of the many nerve... | [
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What is (are) Exstrophy-epispadias complex ? | Exstrophy-epispadias complex (EEC) comprises a spectrum of congenital abnormalities that includes epispadias, classical bladder exstrophy and exstrophy of the cloaca and several variants. EEC is characterized by a visible defect of the lower abdominal wall and other problems. The defect occurs due to a rupture of a fet... | [
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What are the treatments for Rasmussen's Encephalitis ? | Anti-epileptic drugs are usually not effective in controlling seizures. Recent studies have shown some success with treatments that suppress or modulate the immune system, in particular those that use corticosteroids, intravenous immunoglobulin, or tacrolimus. Surgery to control seizures may be performed in later stage... | [
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What are the stages of Penile Cancer ? | Key Points
- After penile cancer has been diagnosed, tests are done to find out if cancer cells have spread within the penis or to other parts of the body. - There are three ways that cancer spreads in the body. - Cancer may spread from where it began to other parts of the body. - The follo... | [
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What are the genetic changes related to fragile XE syndrome ? | Fragile XE syndrome is caused by mutations in the AFF2 gene. This gene provides instructions for making a protein whose function is not well understood. Some studies show that the AFF2 protein can attach (bind) to DNA and help control the activity of other genes. Other studies suggest that the AFF2 protein is involved ... | [
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What to do for Kidney Failure: Choosing a Treatment That's Right for You ? | #NAME? | [
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How to diagnose Proteinuria ? | Until recently, an accurate protein measurement required a 24-hour urine collection. In a 24-hour collection, the patient urinates into a container, which is kept refrigerated between trips to the bathroom. The patient is instructed to begin collecting urine after the first trip to the bathroom in the morning. Every dr... | [
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What is (are) Childhood Soft Tissue Sarcoma ? | Key Points
- Childhood soft tissue sarcoma is a disease in which malignant (cancer) cells form in soft tissues of the body. - Soft tissue sarcoma occurs in children and adults. - Having certain diseases and inherited disorders can increase the risk of childhood soft tissue sarcoma. ... | [
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What is (are) Nutrition for Advanced Chronic Kidney Disease in Adults ? | Keeping the proper level of potassium in the blood is essential. Potassium keeps the heart beating regularly and muscles working right. Problems can occur when blood potassium levels are either too low or too high. Damaged kidneys allow potassium to build up in the blood, causing serious heart problems. Potassium is fo... | [
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What are the symptoms of Karak syndrome ? | What are the signs and symptoms of Karak syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Karak 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) Polycythemia Vera ? | Key Points
- Polycythemia vera is a disease in which too many red blood cells are made in the bone marrow. - Symptoms of polycythemia vera include headaches and a feeling of fullness below the ribs on the left side. - Special blood tests are used to diagnose polycythemia vera.
... | [
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What causes Abdominal Adhesions ? | Abdominal surgery is the most frequent cause of abdominal adhesions. Surgery-related causes include
- cuts involving internal organs - handling of internal organs - drying out of internal organs and tissues - contact of internal tissues with foreign materials, such as gauze, surgical gloves, and st... | [
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What are the symptoms of Heart Attack ? | No. Most heart attack patients do not have all of the symptoms. The important thing to remember is that if you have any of the symptoms and they grow more intense, and last more than 5 minutes, you should call 9-1-1 immediately. | [
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What causes Bronchiolitis obliterans organizing pneumonia ? | What causes bronchiolitis obliterans organizing pneumonia (BOOP)? BOOP may be caused by a variety of factors, including viral infections, inhalation of toxic gases, drugs, connective tissue disorders, radiation therapy, cocaine, inflammatory bowl disease, and HIV infection. In many cases, the underlying cause of BOOP i... | [
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What are the treatments for Acute Disseminated Encephalomyelitis ? | Treatment for ADEM is targeted at suppressing inflammation in the brain using anti-inflammatory drugs. Most individuals respond to several days of intravenous corticosteroids such as methylprednisolone, followed by oral corticosteroid treatment. When corticosteroids fail to work, plasmapheresis or intravenous immunoglo... | [
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What causes Barrett esophagus ? | What causes Barrett esophagus? The exact underlying cause of Barrett esophagus is unknown. However, certain factors are known to increase the risk of developing the condition. These include: Long-standing gastroesophageal reflux disease (GERD) Obesity (specifically high levels of belly fat) Smoking Factors that may dec... | [
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Is glutaric acidemia type II 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 are the treatments for Mosaic trisomy 14 ? | How might mosaic trisomy 14 be treated? Treatment for signs and symptoms of mosaic trisomy 14 focuses on the specific features present in each individual. Infants with congenital heart defects may need surgery or other therapies to alleviate symptoms and correct heart malformations. Respiratory infections should be tre... | [
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Is Meesmann corneal dystrophy inherited ? | This condition is inherited in an autosomal dominant pattern, which means one copy of an altered KRT12 or KRT3 gene in each cell is sufficient to cause the disorder. In most cases, an affected person inherits the condition from an affected parent. | [
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What is (are) aniridia ? | Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). Peop... | [
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What causes Hanhart syndrome ? | What causes Hanhart syndrome syndrome? The exact underlying cause of Hanhart syndrome is currently unknown. However, researchers suspect that there may be genetic and/or environmental factors that contribute to the development of the condition. To date, no specific disease-causing genes have been identified. Possible e... | [
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What are the symptoms of Unna-Thost palmoplantar keratoderma ? | What are the signs and symptoms of Unna-Thost palmoplantar keratoderma? The Human Phenotype Ontology provides the following list of signs and symptoms for Unna-Thost palmoplantar keratoderma. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can u... | [
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What are the genetic changes related to rheumatoid arthritis ? | Rheumatoid arthritis probably results from a combination of genetic and environmental factors, many of which are unknown. Rheumatoid arthritis is classified as an autoimmune disorder, one of a large group of conditions that occur when the immune system attacks the body's own tissues and organs. In people with rheumato... | [
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What are the symptoms of Glutaric acidemia type I ? | What are the signs and symptoms of Glutaric acidemia type I? The specific symptoms and severity in people with glutaric acidemia type 1 (GA1) can vary widely. Some people are mildly affected, while others have severe problems. Signs and symptoms usually first occur in infancy or early childhood, but sometimes symptoms ... | [
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What is (are) uromodulin-associated kidney disease ? | Uromodulin-associated kidney disease is an inherited condition that affects the kidneys. The signs and symptoms of this condition vary, even among members of the same family. Many individuals with uromodulin-associated kidney disease develop high blood levels of a waste product called uric acid. Normally, the kidneys ... | [
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What is (are) Andermann syndrome ? | Andermann syndrome (AS) is a disorder that damages the nerves used for muscle movement and sensation (motor and sensory neuropathy). Agenesis or malformation of the corpus callosum also occurs in most people with this disorder. Signs and symptoms of the disorder include areflexia; hypotonia; amyotrophy; severe progress... | [
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What are the treatments for Fahr's Syndrome ? | There is no cure for Fahr's Syndrome, nor is there a standard course of treatment. Treatment addresses symptoms on an individual basis. | [
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What are the genetic changes related to 16p11.2 deletion syndrome ? | People with 16p11.2 deletion syndrome are missing a sequence of about 600,000 DNA building blocks (base pairs), also written as 600 kilobases (kb), at position p11.2 on chromosome 16. This deletion affects one of the two copies of chromosome 16 in each cell. The 600 kb region contains more than 25 genes, and in many ca... | [
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What are the symptoms of Retinal vasculopathy with cerebral leukodystrophy ? | What are the signs and symptoms of Retinal vasculopathy with cerebral leukodystrophy? The Human Phenotype Ontology provides the following list of signs and symptoms for Retinal vasculopathy with cerebral leukodystrophy. If the information is available, the table below includes how often the symptom is seen in people wi... | [
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What are the treatments for Multicentric Castleman Disease ? | How might multicentric Castleman disease be treated? The treatment of multicentric Castleman disease (MCD) varies based on the severity of the condition and whether or not the patient has an HIV and/or human herpes virus type 8 (HHV-8) infection. Possible treatment options include: Immunotherapy can be used to block th... | [
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What is (are) Asthma ? | Espaol
Asthma (AZ-ma) is a chronic (long-term) lung disease that inflames and narrows the airways. Asthma causes recurring periods of wheezing (a whistling sound when you breathe), chest tightness, shortness of breath, and coughing. The coughing often occurs at night or early in the morning.
... | [
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Is Adams-Oliver syndrome inherited ? | Adams-Oliver syndrome can have different inheritance patterns. When caused by mutations in the ARHGAP31, DLL4, NOTCH1, or RBPJ gene, the condition is inherited in an autosomal dominant pattern. Autosomal dominant inheritance means that one copy of the altered gene in each cell is sufficient to cause the disorder. The a... | [
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What are the symptoms of WaterhouseFriderichsen syndrome ? | What are the symptoms of Waterhouse-Friderichsen syndrome? Waterhouse-Friderichsen syndrome is characterized by the abrupt onset of fever, petechiae, septic shock, and disseminated intravascular coagulation (DIC) followed by acute hemorrhagic necrosis of the adrenal glands and severe cardiovascular dysfunction. Patient... | [
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What are the treatments for Noonan syndrome 6 ? | How might Noonan syndrome be treated? Management generally focuses on the specific signs and symptoms present in each person. Treatments for the complications of Noonan syndrome (such as cardiovascular abnormalities) are generally standard and do not differ from treatment in the general population. Developmental disabi... | [
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What is (are) alpha-1 antitrypsin deficiency ? | Alpha-1 antitrypsin deficiency is an inherited disorder that may cause lung disease and liver disease. The signs and symptoms of the condition and the age at which they appear vary among individuals. People with alpha-1 antitrypsin deficiency usually develop the first signs and symptoms of lung disease between ages 20... | [
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What are the genetic changes related to paroxysmal nocturnal hemoglobinuria ? | Mutations in the PIGA gene cause paroxysmal nocturnal hemoglobinuria. The PIGA gene provides instructions for making a protein called phosphatidylinositol glycan class A. This protein takes part in a series of steps that produce a molecule called GPI anchor. GPI anchor attaches many different proteins to the cell memb... | [
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What causes 22q11.2 deletion syndrome ? | What causes 22q11.2 deletion syndrome? 22q11.2 deletion syndrome is caused by a missing piece (deletion) of part of chromosome 22 in each cell. The deletion occurs near the middle of the chromosome at a location designated q11.2. Most people with 22q11.2 deletion syndrome are missing a piece of the chromosome that cont... | [
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What are the treatments for Neuroacanthocytosis ? | How might neuroacanthocytosis be treated? There is currently no cure for neuroacanthocytosis. Management generally focuses on the specific symptoms that are present in each individual and may require the coordination of various specialists. Psychiatric symptoms and chorea may be treated with certain antipsychotic medic... | [
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What are the symptoms of Ichthyosis, acquired ? | What are the signs and symptoms of Ichthyosis, acquired? The Human Phenotype Ontology provides the following list of signs and symptoms for Ichthyosis, acquired. 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 Dic... | [
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How many people are affected by Irritable Bowel Syndrome in Children ? | Limited information is available about the number of children with IBS. Older studies have reported prevalence rates for recurrent abdominal pain in children of 10 to 20 percent.1 However, these studies did not differentiate IBS from functional abdominal pain, indigestion, and abdominal migraine. One study of children ... | [
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What are the treatments for spinocerebellar ataxia type 2 ? | These resources address the diagnosis or management of SCA2: - Gene Review: Gene Review: Spinocerebellar Ataxia Type 2 - Genetic Testing Registry: Spinocerebellar ataxia 2 These resources from MedlinePlus offer information about the diagnosis and management of various health conditions: - Diagnostic Tests - Drug ... | [
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What is (are) Alcohol Use and Older Adults ? | Alcohol, also known as ethanol, is a chemical found in beverages like beer, wine, and distilled spirits such as whiskey, vodka, and rum. Through a process called fermentation, yeast converts the sugars naturally found in grains and grapes into the alcohol that is in beer and wine. Another process, called distillation, ... | [
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What are the symptoms of Hereditary hemorrhagic telangiectasia ? | What are the signs and symptoms of Hereditary hemorrhagic telangiectasia? The Human Phenotype Ontology provides the following list of signs and symptoms for Hereditary hemorrhagic telangiectasia. If the information is available, the table below includes how often the symptom is seen in people with this condition. You c... | [
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Do you have information about Alcohol | Summary : If you are like many Americans, you drink alcohol at least occasionally. For many people, moderate drinking is probably safe. It may even have health benefits, including reducing your risk of certain heart problems. For most women and for most people over 65, moderate drinking is no more than three drinks a d... | [
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What are the symptoms of What I need to know about Hepatitis B ? | Most people do not have any symptoms of hepatitis B. Adults and children ages 5 and older may have one or more of the following symptoms:
- feeling tired - muscle soreness - upset stomach - stomach pain - fever - loss of appetite - diarrhea - dark-yellow urine - light-colored stools - yellowis... | [
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How to diagnose Dihydropyrimidine dehydrogenase deficiency ? | How is dihydropyrimidine dehydrogenase (DPD) deficiency diagnosed? DPD deficiency may be diagnosed in various ways. In individuals with complete or profound DPD deficiency, laboratory testing can detect elevated levels of uracil and/or thymine in plasma or urine. Partial DPD deficiency is more difficult to detect, whic... | [
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What are the symptoms of Heart-hand syndrome, Spanish type ? | What are the signs and symptoms of Heart-hand syndrome, Spanish type? The Human Phenotype Ontology provides the following list of signs and symptoms for Heart-hand syndrome, Spanish type. If the information is available, the table below includes how often the symptom is seen in people with this condition. You can use t... | [
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What causes Primary hyperoxaluria type 2 ? | What causes primary hyperoxaluria type 2? Researchers have identified more than a dozen GRHPR mutations that cause this condition. These mutations either introduce signals that disrupt production of the glyoxylate reductase/hydroxypyruvate reductase enzyme or alter its structure. As a result, enzyme activity is absent ... | [
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What are the symptoms of Primary Biliary Cirrhosis ? | The first and most common symptoms of primary biliary cirrhosis are
- fatigue, or feeling tired - itching skin, and darkened skin in itching areas due to scratching - dry eyes and mouth
Some people may have jaundice, a condition that causes the skin and whites of the eyes to turn yel... | [
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Who is at risk for Sleep Deprivation and Deficiency? ? | Sleep deficiency, which includes sleep deprivation, affects people of all ages, races, and ethnicities. Certain groups of people may be more likely to be sleep deficient. Examples include people who:
Have limited time available for sleep, such as caregivers or people working long hours or more than one... | [
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What are the treatments for collagen VI-related myopathy ? | These resources address the diagnosis or management of collagen VI-related myopathy: - Gene Review: Gene Review: Collagen Type VI-Related Disorders - Genetic Testing Registry: Bethlem myopathy - Genetic Testing Registry: Collagen Type VI-Related Autosomal Dominant Limb-girdle Muscular Dystrophy - Genetic Testing Re... | [
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What is the outlook for Trigeminal Neuralgia ? | The disorder is characterized by recurrences and remissions, and successive recurrences may incapacitate the patient. Due to the intensity of the pain, even the fear of an impending attack may prevent activity. Trigeminal neuralgia is not fatal. | [
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What is (are) Saethre-Chotzen syndrome ? | Saethre-Chotzen syndrome is a genetic condition 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. Most people with Saethre-Chotzen syndrome have prematurely fused skull bones along the ... | [
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Who is at risk for Parasites - Toxocariasis (also known as Roundworm Infection)? ? | Infected dogs and cats shed Toxocara eggs in their feces into the environment. Once in the environment, it takes 2 to 4 weeks for Toxocara larvae to develop and for the eggs to become infectious. Humans or other animals can be infected by accidentally ingesting Toxocara eggs. For example, humans can become infected if ... | [
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What is (are) Pseudohypoparathyroidism type 1C ? | Pseudohypoparathyroidism type 1C is a genetic disorder that is very similar to hypoparathyroidism (parathyroid hormone levels are too low). However, pseudohypoparathyroidism is caused by no response to parathyroid hormone rather than having too little of the hormone itself. This causes low calcium and high phosphate le... | [
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What are the stages of Ovarian Low Malignant Potential Tumors ? | Key Points
- After ovarian low malignant potential tumor has been diagnosed, tests are done to find out if abnormal cells have spread within the ovary or to other parts of the body. - The following stages are used for ovarian low malignant potential tumor: - Stage I - Stage II - ... | [
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What are the genetic changes related to Rabson-Mendenhall syndrome ? | Rabson-Mendenhall syndrome results from mutations in the INSR gene. This gene provides instructions for making a protein called an insulin receptor, which is found in many types of cells. Insulin receptors are embedded in the outer membrane surrounding the cell, where they attach (bind) to insulin circulating in the bl... | [
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