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information | What is (are) Ehlers-Danlos syndrome, vascular type ? | 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. |
inheritance | 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. |
causes | What causes Kawasaki Disease ? | 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. |
information | What is (are) Neurological Sequelae Of Lupus ? | 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. |
treatment | What are the treatments for Tardive Dyskinesia ? | 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. |
genetic changes | What are the genetic changes related to white sponge nevus ? | 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. As a result, keratin 4 and keratin 13 are mismatched and do not fit together properly, leading to the formation of irregular intermediate filaments that are easily damaged with little friction or trauma. Fragile intermediate filaments in the oral mucosa might be damaged when eating or brushing one's teeth. Damage to intermediate filaments leads to inflammation and promotes the abnormal growth and division (proliferation) of epithelial cells, causing the mucosae to thicken and resulting in white sponge nevus. |
symptoms | What are the symptoms of Ullrich congenital muscular dystrophy ? | 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. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Hyperthyroidism ? | 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. They may include - Being nervous or irritable - Mood swings - Fatigue or muscle weakness - Heat intolerance - Trouble sleeping - Hand tremors - Rapid and irregular heartbeat - Frequent bowel movements or diarrhea - Weight loss - Goiter, which is an enlarged thyroid that may cause the neck to look swollen To diagnose hyperthyroidism, your doctor will look at your symptoms, blood tests, and sometimes a thyroid scan. Treatment is with medicines, radioiodine therapy, or thyroid surgery. No single treatment works for everyone. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
symptoms | What are the symptoms of Spinocerebellar ataxia 11 ? | 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. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
symptoms | What are the symptoms of Limb-girdle muscular dystrophy type 2E ? | 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. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for 21-hydroxylase deficiency ? | 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. Follow-up of adult patients should involve multidisciplinary clinics. Problems in adult women include fertility concerns, excessive hair growth, and menstrual irregularity; obesity and impact of short stature; sexual dysfunction and psychological problems. Counseling may be helpful. Adult males may develop enlargement of the testes and if so, should work with an endocrinologist familiar with the management of patients with this deficiency. |
information | What is (are) Weaver syndrome ? | 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. |
information | What is (are) Oligoastrocytoma ? | 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. |
treatment | What are the treatments for Melkersson-Rosenthal Syndrome ? | 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. |
considerations | What to do for Solitary Kidney ? | 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. Two types of blood pressurelowering medications, angiotensin-converting enzyme (ACE) inhibitors and angiotensin receptor blockers (ARBs), have proven effective in slowing the progression of kidney disease. Many people require two or more medications to control their blood pressure. In addition to an ACE inhibitor or ARB, a diuretica medication that helps the kidneys remove fluid from the bloodmay be prescribed. Beta-blockers, calcium channel blockers, and other blood pressure medications may also be needed.
Preventing Injury
For people with a solitary kidney, loss of the remaining working kidney results in the need for dialysis or kidney transplant. People should make sure their health care providers know they have a solitary kidney to prevent injury from medications or medical procedures. People who participate in certain sports may be more likely to injure the kidney; this risk is of particular concern with children, as they are more likely to play sports. The American Academy of Pediatrics recommends individual assessment for contact, collision, and limited-contact sports. Protective equipment may reduce the chance of injury to the remaining kidney enough to allow participation in most sports, provided that such equipment remains in place during activity. Health care providers, parents, and patients should consider the risks of any activity and decide whether the benefits outweigh those risks. |
frequency | How many people are affected by citrullinemia ? | 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. |
information | What is (are) Gallstones ? | 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. If you do not have symptoms, you usually do not need treatment. The most common treatment is removal of the gallbladder. Fortunately, you can live without a gallbladder. Bile has other ways to reach your small intestine. NIH: National Institute of Diabetes and Digestive and Kidney Diseases |
information | What is (are) Neuroaxonal dystrophy ? | 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. INAD is an autosomal recessive disorder, which means that both parents must be carriers of the defective gene that causes INAD to pass it on to their child. Electrophysiology (nerve conduction velocities) may be helpful for diagnosis, although diagnosis is usually confirmed by tissue biopsy of skin, rectum, nerve or conjunctive tissue to confirm the presence of characteristic swellings (spheroid bodies) in the nerve axons. |
symptoms | What are the symptoms of Paranasal Sinus and Nasal Cavity Cancer ? | 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. - Pain or pressure in the ear. |
inheritance | Is Pelizaeus-Merzbacher disease inherited ? | How is Pelizaeus-Merzbacher disease inherited? |
treatment | What are the treatments for dystonia 6 ? | 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 |
symptoms | What are the symptoms of Brittle cornea syndrome ? | 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. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
treatment | What are the treatments for Takayasu arteritis ? | 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. |
information | What is (are) oculodentodigital dysplasia ? | 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). Some affected individuals experience neurological problems such as a lack of bladder or bowel control, difficulty coordinating movements (ataxia), abnormal muscle stiffness (spasticity), hearing loss, and impaired speech (dysarthria). A few people with oculodentodigital dysplasia also have a skin condition called palmoplantar keratoderma. Palmoplantar keratoderma causes the skin on the palms and the soles of the feet to become thick, scaly, and calloused. Some features of oculodentodigital dysplasia are evident at birth, while others become apparent with age. |
information | What is (are) Kleine-Levin Syndrome ? | 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. It may be weeks or more before symptoms reappear. Symptoms may be related to malfunction of the hypothalamus and thalamus, parts of the brain that govern appetite and sleep. |
information | What is (are) gastrointestinal stromal tumor ? | 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. Bleeding into the intestinal tract may cause black and tarry stools, and bleeding into the throat or stomach may cause vomiting of blood. Affected individuals with no family history of GIST typically have only one tumor (called a sporadic GIST). People with a family history of GISTs (called familial GISTs) often have multiple tumors and additional signs or symptoms, including noncancerous overgrowth (hyperplasia) of other cells in the gastrointestinal tract and patches of dark skin on various areas of the body. Some affected individuals have a skin condition called urticaria pigmentosa (also known as cutaneous mastocytosis), which is characterized by raised patches of brownish skin that sting or itch when touched. |
inheritance | Is multiple pterygium syndrome 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. |
information | What is (are) lysinuric protein intolerance ? | 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. An accumulation of amino acids in the kidneys can cause end-stage renal disease (ESRD) in which the kidneys become unable to filter fluids and waste products from the body effectively. A lack of certain amino acids can cause elevated levels of ammonia in the blood. If ammonia levels are too high for too long, they can cause coma and intellectual disability. The signs and symptoms of lysinuric protein intolerance typically appear after infants are weaned and receive greater amounts of protein from solid foods. |
inheritance | Is pseudohypoaldosteronism type 2 inherited ? | 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. |
information | What is (are) Crouzon syndrome ? | 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. People with Crouzon syndrome are usually of normal intelligence. |
exams and tests | How to diagnose Childhood Ependymoma ? | 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. A substance called gadolinium is injected into a vein and travels through the bloodstream. The gadolinium collects around the cancer cells so they show up brighter in the picture. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Lumbar puncture : A procedure used to collect cerebrospinal fluid (CSF) from the spinal column. This is done by placing a needle between two bones in the spine and into the CSF around the spinal cord and removing a sample of fluid. The sample of CSF is checked under a microscope for signs of tumor cells. The sample may also be checked for the amounts of protein and glucose. A higher than normal amount of protein or lower than normal amount of glucose may be a sign of a tumor. This procedure is also called an LP or spinal tap.
Childhood ependymoma is diagnosed and removed in surgery. If the diagnostic tests show there may be a brain tumor, a biopsy is done by removing part of the skull and using a needle to remove a sample of the brain tissue. A pathologist views the tissue under a microscope to look for cancer cells. If cancer cells are found, the doctor will remove as much tumor as safely possible during the same surgery. The following test may be done on the tissue that was removed: - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between brain stem glioma and other brain tumors. An MRI is often done after the tumor is removed to find out whether any tumor remains. |
information | What is (are) Heart Failure ? | 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. It is then pumped through the pulmonary artery to the lungs, picking up oxygen. From there, the blood returns to the left side of the heart. Then it is pumped through a large artery called the aorta that distributes blood throughout the body. When the heart is weakened by heart failure, blood and fluid can back up into the lungs, and fluid builds up in the feet, ankles, and legs. People with heart failure often experience tiredness and shortness of breath. Heart Failure is Serious Heart failure is a serious and common condition. Scientists estimate that 5 million people in the U.S. have heart failure and that number is growing. It contributes to 300,000 deaths each year. Heart failure is most common in those age 65 and older and it is the number one reason older people are hospitalized. Other Names for Heart Failure Heart failure can also be called congestive heart failure, systolic heart failure, diastolic heart failure, left-sided heart failure, or right-sided heart failure. |
treatment | What are the treatments for Chordoma ? | 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. Approximately 60-70% of individuals treated with combined surgery and radiation therapy remained tumor-free for at least five years. |
frequency | How many people are affected by cyclic neutropenia ? | Cyclic neutropenia is a rare condition and is estimated to occur in 1 in 1 million individuals worldwide. |
causes | What causes What I need to know about Gas ? | 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 |
information | Do you have information about Radon | 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. |
treatment | What are the treatments for periventricular heterotopia ? | 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 |
prevention | How to prevent High Blood Pressure ? | 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). Body mass index (BMI) applies to both men and women, but it does have some limits. - It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema) - It may underestimate body fat in older persons and others who have lost muscle mass. It may overestimate body fat in in someone who is very muscular or who has swelling from fluid retention (called edema) It may underestimate body fat in older persons and others who have lost muscle mass. Thats why waist measurement is often checked as well. Another reason is that too much body fat in the stomach area also increases disease risk. A waist measurement of more than 35 inches in women and more than 40 inches in men is considered high. |
information | What is (are) Hemophilia B ? | 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. |
information | What is (are) Postural orthostatic tachycardia syndrome ? | 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. Treatment aims to relieve low blood volume and/or regulate circulatory problems that could be causing the condition. |
research | what research (or clinical trials) is being done for Cerebral Hypoxia ? | 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. |
symptoms | What are the symptoms of Microscopic Colitis: Collagenous Colitis and Lymphocytic Colitis ? | 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. Sometimes, the symptoms go away without treatment. |
information | What is (are) spastic paraplegia type 7 ? | 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. People with this form of spastic paraplegia can also experience exaggerated reflexes (hyperreflexia) in the arms; speech difficulties (dysarthria); difficulty swallowing (dysphagia); involuntary movements of the eyes (nystagmus); mild hearing loss; abnormal curvature of the spine (scoliosis); high-arched feet (pes cavus); numbness, tingling, or pain in the arms and legs (sensory neuropathy); disturbance in the nerves used for muscle movement (motor neuropathy); and muscle wasting (amyotrophy). The onset of symptoms varies greatly among those with spastic paraplegia type 7; however, abnormalities in muscle tone and other features are usually noticeable in adulthood. |
causes | What causes Lambert Eaton myasthenic syndrome ? | 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. |
information | What is (are) Feingold syndrome ? | 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. In most cases, the blockage occurs in the esophagus (esophageal atresia) or in part of the small intestine (duodenal atresia). Additional common features of Feingold syndrome include an unusually small head size (microcephaly), a small jaw (micrognathia), a narrow opening of the eyelids (short palpebral fissures), and mild to moderate learning disability. Less often, affected individuals have hearing loss, impaired growth, and kidney and heart abnormalities. |
frequency | How many people are affected by small fiber neuropathy ? | The prevalence of small fiber neuropathy is unknown. |
inheritance | Is mucolipidosis III alpha/beta 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. |
information | What is (are) Cholera ? | 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. Anyone who thinks they may have cholera should seek medical attention immediately. Dehydration can be rapid so fluid replacement is essential. Centers for Disease Control and Prevention |
inheritance | Is Hereditary lymphedema type II inherited ? | 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. |
research | what research (or clinical trials) is being done for Transverse Myelitis ? | 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. |
inheritance | Is molybdenum cofactor deficiency inherited ? | 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. |
exams and tests | How to diagnose Childhood Extracranial Germ Cell Tumors ? | 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. These are called tumor markers. Most malignant germ cell tumors release tumor markers. The following tumor markers are used to detect extracranial germ cell tumors: - Alpha-fetoprotein (AFP). - Beta-human chorionic gonadotropin (-hCG). For testicular germ cell tumors, blood levels of the tumor markers help show if the tumor is a seminoma or nonseminoma. - Blood chemistry studies : A procedure in which a blood sample is checked to measure the amounts of certain substances released into the blood by organs and tissues in the body. An unusual (higher or lower than normal) amount of a substance can be a sign of disease. - Chest x-ray : An x-ray of the organs and bones inside the chest. An x-ray is a type of energy beam that can go through the body and onto film, making a picture of areas inside the body. - CT scan (CAT scan): A procedure that makes a series of detailed pictures of areas inside the body, taken from different angles. The pictures are made by a computer linked to an x-ray machine. A dye may be injected into a vein or swallowed to help the organs or tissues show up more clearly. This procedure is also called computed tomography, computerized tomography, or computerized axial tomography. - MRI (magnetic resonance imaging): A procedure that uses a magnet, radio waves, and a computer to make a series of detailed pictures of areas inside the body. This procedure is also called nuclear magnetic resonance imaging (NMRI). - Ultrasound exam: A procedure in which high-energy sound waves (ultrasound) are bounced off internal tissues or organs and make echoes. The echoes form a picture of body tissues called a sonogram. The picture can be printed to be looked at later. - Biopsy : The removal of cells or tissues so they can be viewed under a microscope by a pathologist to check for signs of cancer. In some cases, the tumor is removed during surgery and then a biopsy is done. The following tests may be done on the sample of tissue that is removed: - Cytogenetic analysis : A laboratory test in which cells in a sample of tissue are viewed under a microscope to look for certain changes in the chromosomes. - Immunohistochemistry : A test that uses antibodies to check for certain antigens in a sample of tissue. The antibody is usually linked to a radioactive substance or a dye that causes the tissue to light up under a microscope. This type of test may be used to tell the difference between different types of cancer. |
information | What is (are) Cerebral Aneurysms ? | 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. |
frequency | How many people are affected by neurofibromatosis type 1 ? | Neurofibromatosis type 1 occurs in 1 in 3,000 to 4,000 people worldwide. |
symptoms | What are the symptoms of Epidermolysa bullosa simplex with muscular dystrophy ? | 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. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Leber congenital amaurosis ? | 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. Additionally, the clear front covering of the eye (the cornea) may be cone-shaped and abnormally thin, a condition known as keratoconus. A specific behavior called Franceschetti's oculo-digital sign is characteristic of Leber congenital amaurosis. This sign consists of poking, pressing, and rubbing the eyes with a knuckle or finger. Researchers suspect that this behavior may contribute to deep-set eyes and keratoconus in affected children. In rare cases, delayed development and intellectual disability have been reported in people with the features of Leber congenital amaurosis. However, researchers are uncertain whether these individuals actually have Leber congenital amaurosis or another syndrome with similar signs and symptoms. At least 13 types of Leber congenital amaurosis have been described. The types are distinguished by their genetic cause, patterns of vision loss, and related eye abnormalities. |
information | What is (are) Sleep Deprivation and Deficiency ? | 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.
Sleep deficiency can lead to physical and mental health problems, injuries, loss of productivity, and even a greater risk of death.
Overview
To understand sleep deficiency, it helps to understand how sleep works and why it's important. The two basic types of sleep are rapid eye movement (REM) and non-REM.
Non-REM sleep includes what is commonly known as deep sleep or slow wave sleep. Dreaming typically occurs during REM sleep. Generally, non-REM and REM sleep occur in a regular pattern of 35 cycles each night.
Your ability to function and feel well while you're awake depends on whether you're getting enough total sleep and enough of each type of sleep. It also depends on whether you're sleeping at a time when your body is prepared and ready to sleep.
You have an internal "body clock" that controls when you're awake and when your body is ready for sleep. This clock typically follows a 24-hour repeating rhythm (called the circadian rhythm). The rhythm affects every cell, tissue, and organ in your body and how they work. (For more information, go to "What Makes You Sleep?")
If you aren't getting enough sleep, are sleeping at the wrong times, or have poor quality sleep, you'll likely feel very tired during the day. You may not feel refreshed and alert when you wake up.
Sleep deficiency can interfere with work, school, driving, and social functioning. You might have trouble learning, focusing, and reacting. Also, you might find it hard to judge other people's emotions and reactions. Sleep deficiency also can make you feel frustrated, cranky, or worried in social situations.
The signs and symptoms of sleep deficiency may differ between children and adults. Children who are sleep deficient might be overly active and have problems paying attention. They also might misbehave, and their school performance can suffer.
Outlook
Sleep deficiency is a common public health problem in the United States. People in all age groups report not getting enough sleep.
As part of a health survey for the Centers for Disease Control and Prevention, about 719 percent of adults in the United States reported not getting enough rest or sleep every day.
Nearly 40 percent of adults report falling asleep during the day without meaning to at least once a month. Also, an estimated 50 to 70 million Americans have chronic (ongoing) sleep disorders.
Sleep deficiency is linked to many chronic health problems, including heart disease, kidney disease, high blood pressure, diabetes, stroke, obesity, and depression.
Sleep deficiency also is associated with an increased risk of injury in adults, teens, and children. For example, driver sleepiness (not related to alcohol) is responsible for serious car crash injuries and death. In the elderly, sleep deficiency might be linked to an increased risk of falls and broken bones.
In addition, sleep deficiency has played a role in human errors linked to tragic accidents, such as nuclear reactor meltdowns, grounding of large ships, and aviation accidents.
A common myth is that people can learn to get by on little sleep with no negative effects. However, research shows that getting enough quality sleep at the right times is vital for mental health, physical health, quality of life, and safety. |
causes | What causes Causes of Diabetes ? | 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.
Other rare genetic mutations can cause diabetes by damaging the quality of insulin the body produces or by causing abnormalities in insulin receptors.
Other Genetic Diseases
Diabetes occurs in people with Down syndrome, Klinefelter syndrome, and Turner syndrome at higher rates than the general population. Scientists are investigating whether genes that may predispose people to genetic syndromes also predispose them to diabetes.
The genetic disorders cystic fibrosis and hemochromatosis are linked to diabetes. Cystic fibrosis produces abnormally thick mucus, which blocks the pancreas. The risk of diabetes increases with age in people with cystic fibrosis. Hemochromatosis causes the body to store too much iron. If the disorder is not treated, iron can build up in and damage the pancreas and other organs.
Damage to or Removal of the Pancreas
Pancreatitis, cancer, and trauma can all harm the pancreatic beta cells or impair insulin production, thus causing diabetes. If the damaged pancreas is removed, diabetes will occur due to the loss of the beta cells.
Endocrine Diseases
Endocrine diseases affect organs that produce hormones. Cushings syndrome and acromegaly are examples of hormonal disorders that can cause prediabetes and diabetes by inducing insulin resistance. Cushings syndrome is marked by excessive production of cortisolsometimes called the stress hormone. Acromegaly occurs when the body produces too much growth hormone. Glucagonoma, a rare tumor of the pancreas, can also cause diabetes. The tumor causes the body to produce too much glucagon. Hyperthyroidism, a disorder that occurs when the thyroid gland produces too much thyroid hormone, can also cause elevated blood glucose levels.
Autoimmune Disorders
Rare disorders characterized by antibodies that disrupt insulin action can lead to diabetes. This kind of diabetes is often associated with other autoimmune disorders such as lupus erythematosus. Another rare autoimmune disorder called stiff-man syndrome is associated with antibodies that attack the beta cells, similar to type 1 diabetes.
Medications and Chemical Toxins
Some medications, such as nicotinic acid and certain types of diuretics, anti-seizure drugs, psychiatric drugs, and drugs to treat human immunodeficiency virus (HIV), can impair beta cells or disrupt insulin action. Pentamidine, a drug prescribed to treat a type of pneumonia, can increase the risk of pancreatitis, beta cell damage, and diabetes. Also, glucocorticoidssteroid hormones that are chemically similar to naturally produced cortisolmay impair insulin action. Glucocorticoids are used to treat inflammatory illnesses such as rheumatoid arthritis, asthma, lupus, and ulcerative colitis.
Many chemical toxins can damage or destroy beta cells in animals, but only a few have been linked to diabetes in humans. For example, dioxina contaminant of the herbicide Agent Orange, used during the Vietnam Warmay be linked to the development of type 2 diabetes. In 2000, based on a report from the Institute of Medicine, the U.S. Department of Veterans Affairs (VA) added diabetes to the list of conditions for which Vietnam veterans are eligible for disability compensation. Also, a chemical in a rat poison no longer in use has been shown to cause diabetes if ingested. Some studies suggest a high intake of nitrogen-containing chemicals such as nitrates and nitrites might increase the risk of diabetes. Arsenic has also been studied for possible links to diabetes.
Lipodystrophy
Lipodystrophy is a condition in which fat tissue is lost or redistributed in the body. The condition is associated with insulin resistance and type 2 diabetes. |
information | What is (are) Hearing Loss ? | 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. 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. A Common Problem in Older Adults Hearing loss is one of the most common conditions affecting older adults. Approximately 17 percent, or 36 million, of American adults report some degree of hearing loss. There is a strong relationship between age and reported hearing loss: 18 percent of American adults 45-64 years old, 30 percent of adults 65-74 years old, and 47 percent of adults 75 years old, or older, have a hearing impairment. Men are more likely to experience hearing loss than women. People with hearing loss may find it hard to have a conversation with friends and family. They may also have trouble understanding a doctor's advice, responding to warnings, and hearing doorbells and alarms. Types of Hearing Loss Hearing loss comes in many forms. It can range from a mild loss in which a person misses certain high-pitched sounds, such as the voices of women and children, to a total loss of hearing. It can be hereditary or it can result from disease, trauma, certain medications, or long-term exposure to loud noises. There are two general categories of hearing loss. - Sensorineural hearing loss occurs when there is damage to the inner ear or the auditory nerve. This type of hearing loss is usually permanent. - Conductive hearing loss occurs when sound waves cannot reach the inner ear. The cause may be earwax build-up, fluid, or a punctured eardrum. Medical treatment or surgery can usually restore conductive hearing loss. Sensorineural hearing loss occurs when there is damage to the inner ear or the auditory nerve. This type of hearing loss is usually permanent. Conductive hearing loss occurs when sound waves cannot reach the inner ear. The cause may be earwax build-up, fluid, or a punctured eardrum. Medical treatment or surgery can usually restore conductive hearing loss. What is Presbycusis? One form of hearing loss, presbycusis, comes on gradually as a person ages. Presbycusis can occur because of changes in the inner ear, auditory nerve, middle ear, or outer ear. Some of its causes are aging, loud noise, heredity, head injury, infection, illness, certain prescription drugs, and circulation problems such as high blood pressure. Presbycusis commonly affects people over 50, many of whom are likely to lose some hearing each year. Having presbycusis may make it hard for a person to tolerate loud sounds or to hear what others are saying. Tinnitus: A Common Symptom Tinnitus, also common in older people, is a ringing, roaring, clicking, hissing, or buzzing sound. It can come and go. It might be heard in one or both ears and be loud or soft. Tinnitus is a symptom, not a disease. It can accompany any type of hearing loss. It can be a side effect of medications. Something as simple as a piece of earwax blocking the ear canal can cause tinnitus, but it can also be the result of a number of health conditions. If you think you have tinnitus, see your primary care doctor. You may be referred to an otolaryngologist -- a surgeon who specializes in ear, nose, and throat diseases -- (commonly called an ear, nose, and throat doctor, or an ENT). The ENT will physically examine your head, neck, and ears and test your hearing to determine the appropriate treatment. Hearing Loss Can Lead to Other Problems Some people may not want to admit they have trouble hearing. Older people who can't hear well may become depressed or may withdraw from others to avoid feeling frustrated or embarrassed about not understanding what is being said. Sometimes older people are mistakenly thought to be confused, unresponsive, or uncooperative just because they don't hear well. Hearing problems that are ignored or untreated can get worse. If you have a hearing problem, you can get help. See your doctor. Hearing aids, special training, certain medicines, and surgery are some of the choices that can help people with hearing problems. |
frequency | How many people are affected by peroxisomal acyl-CoA oxidase deficiency ? | 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. |
inheritance | Is megalencephaly-capillary malformation syndrome inherited ? | 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. |
genetic changes | What are the genetic changes related to X-linked severe combined immunodeficiency ? | 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. |
inheritance | Is Bilateral perisylvian polymicrogyria inherited ? | 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. |
information | What is (are) 8p11 myeloproliferative syndrome ? | 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. The cancerous lymphoid cells grow and divide in lymph nodes, forming a tumor that enlarges the lymph nodes. In most cases of 8p11 myeloproliferative syndrome, the cancerous cells are lymphoid cells called T cells. Lymphoma can develop at the same time as the myeloproliferative disorder or later. In most people with 8p11 myeloproliferative syndrome, the myeloproliferative disorder develops into a fast-growing blood cancer called acute myeloid leukemia. The rapid myeloid and lymphoid cell production caused by these cancers results in enlargement of the spleen and liver (splenomegaly and hepatomegaly, respectively). Most people with 8p11 myeloproliferative syndrome have symptoms such as fatigue or night sweats. Some affected individuals have no symptoms, and the condition is discovered through routine blood tests. |
prevention | what are public health agencies doing to prevent or control yersiniosis for Yersinia ? | 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. The U.S. Environmental Protection Agency regulates and monitors the safety of our drinking water supplies. |
information | What is (are) Generalized pustular psoriasis ? | 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. Affected areas are treated with topical (on the skin) compresses with emollients and/or steroid creams. Certain medications may also be recommended to manage non-skin-related symptoms. |
genetic changes | What are the genetic changes related to ophthalmo-acromelic syndrome ? | 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. SMOC1 gene mutations often result in a nonfunctional SMOC-1 protein. The loss of SMOC-1 could disrupt growth factor signaling, which would impair the normal development of the skeleton, limbs, and eyes. These changes likely underlie the anophthalmia and skeletal malformations of ophthalmo-acromelic syndrome. It is unclear how SMOC1 gene mutations lead to the other features of this condition. Some people with ophthalmo-acromelic syndrome do not have an identified mutation in the SMOC1 gene. The cause of the condition in these individuals is unknown. |
susceptibility | Who is at risk for Alpha-1 Antitrypsin Deficiency? ? | 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. |
exams and tests | How to diagnose Danon disease ? | 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. |
information | What is (are) Psoriatic Arthritis ? | 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. |
information | What is (are) trichothiodystrophy ? | 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. Babies with trichothiodystrophy are at increased risk of premature birth, low birth weight, and slow growth. Most affected children have short stature compared to others their age. Intellectual disability and delayed development are common, although most affected individuals are highly social with an outgoing and engaging personality. Some have brain abnormalities that can be seen with imaging tests. Trichothiodystrophy is also associated with recurrent infections, particularly respiratory infections, which can be life-threatening. Other features of trichothiodystrophy can include dry, scaly skin (ichthyosis); abnormalities of the fingernails and toenails; clouding of the lens in both eyes from birth (congenital cataracts); poor coordination; and skeletal abnormalities. About half of all people with trichothiodystrophy have a photosensitive form of the disorder, which causes them to be extremely sensitive to ultraviolet (UV) rays from sunlight. They develop a severe sunburn after spending just a few minutes in the sun. However, for reasons that are unclear, they do not develop other sun-related problems such as excessive freckling of the skin or an increased risk of skin cancer. Many people with trichothiodystrophy report that they do not sweat. |
symptoms | What are the symptoms of Ectodermal dysplasia, hidrotic, Christianson-Fourie type ? | 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. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
information | What is (are) Pelvic Pain ? | 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 |
causes | What causes Pars planitis ? | 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. |
information | What is (are) Lipodermatosclerosis ? | 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. |
genetic changes | What are the genetic changes related to neurofibromatosis type 2 ? | 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. Research suggests that the loss of merlin allows cells, especially Schwann cells, to multiply too frequently and form the tumors characteristic of neurofibromatosis type 2. |
inheritance | Is Autoimmune hemolytic anemia inherited ? | 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. |
inheritance | Is hereditary paraganglioma-pheochromocytoma inherited ? | 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. |
research | what research (or clinical trials) is being done for Spina Bifida ? | 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. |
inheritance | Is thiopurine S-methyltransferase deficiency inherited ? | 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. People with one high-activity copy and one low-activity copy have moderately reduced enzyme activity and are also at increased risk of this complication unless given a significantly lower dose of the drug. People with two high-activity copies have normal TPMT activity and do not have an increased risk of hematopoietic toxicity with thiopurine drug treatment. |
information | What is (are) Cleidocranial dysplasia ? | 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. Ear and sinus infections may be treated with antibiotics and use of ear tubes. In some cases surgery is needed for the cranial defect. |
causes | What causes Thrombocythemia and Thrombocytosis ? | 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.
After many years, scarring of the bone marrow can occur.
Secondary Thrombocytosis
This condition occurs if another disease, condition, or outside factor causes the platelet count to rise. For example, 35 percent of people who have high platelet counts also have cancermostly lung, gastrointestinal, breast, ovarian, and lymphoma. Sometimes a high platelet count is the first sign of cancer.
Other conditions or factors that can cause a high platelet count are:
Iron-deficiency anemia (uh-NEE-me-uh)
Hemolytic (HEE-moh-lit-ick) anemia
Absence of a spleen (after surgery to remove the organ)
Inflammatory or infectious diseases, such as connective tissue disorders, inflammatory bowel disease, and tuberculosis
Reactions to medicine
Some conditions can lead to a high platelet count that lasts for only a short time. Examples of such conditions include:
Recovery from serious blood loss
Recovery from a very low platelet count caused by excessive alcohol use and lack of vitamin B12 or folate
Acute (short-term) infection or inflammation
Response to physical activity
Although the platelet count is high in secondary thrombocytosis, the platelets are normal (unlike in primary thrombocythemia). Thus, people who have secondary thrombocytosis have a lower risk of blood clots and bleeding. |
symptoms | What are the symptoms of Flynn Aird syndrome ? | What are the signs and symptoms of Flynn Aird syndrome? The Human Phenotype Ontology provides the following list of signs and symptoms for Flynn Aird 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) Aplasia/Hypoplasia of the skin 90% Myopia 90% Sensorineural hearing impairment 90% Visual impairment 90% Abnormality of retinal pigmentation 50% Atherosclerosis 50% Bone cyst 50% Carious teeth 50% Cataract 50% Decreased body weight 50% Developmental regression 50% EEG abnormality 50% Impaired pain sensation 50% Incoordination 50% Kyphosis 50% Limitation of joint mobility 50% Neurological speech impairment 50% Scoliosis 50% Seizures 50% Skeletal muscle atrophy 50% Skin ulcer 50% Abnormality of movement 7.5% Abnormality of the thyroid gland 7.5% Cerebral calcification 7.5% Cerebral cortical atrophy 7.5% Primary adrenal insufficiency 7.5% Type II diabetes mellitus 7.5% Alopecia - Aphasia - Ataxia - Autosomal dominant inheritance - Dementia - Dermal atrophy - Hyperkeratosis - Increased bone density with cystic changes - Increased CSF protein - Joint stiffness - Kyphoscoliosis - Osteoporosis - Progressive sensorineural hearing impairment - Rod-cone dystrophy - The Human Phenotype Ontology (HPO) has collected information on how often a sign or symptom occurs in a condition. Much of this information comes from Orphanet, a European rare disease database. The frequency of a sign or symptom is usually listed as a rough estimate of the percentage of patients who have that feature. The frequency may also be listed as a fraction. The first number of the fraction is how many people had the symptom, and the second number is the total number of people who were examined in one study. For example, a frequency of 25/25 means that in a study of 25 people all patients were found to have that symptom. Because these frequencies are based on a specific study, the fractions may be different if another group of patients are examined. Sometimes, no information on frequency is available. In these cases, the sign or symptom may be rare or common. |
susceptibility | Who is at risk for Non-Small Cell Lung Cancer? ? | Smoking is the major risk factor for non-small cell lung cancer. Anything that increases your chance of getting a disease is called a risk factor. Having a risk factor does not mean that you will get cancer; not having risk factors doesn't mean that you will not get cancer. Talk to your doctor if you think you may be at risk for lung cancer. Risk factors for lung cancer include the following: - Smoking cigarettes, pipes, or cigars, now or in the past. This is the most important risk factor for lung cancer. The earlier in life a person starts smoking, the more often a person smokes, and the more years a person smokes, the greater the risk of lung cancer. - Being exposed to secondhand smoke. - Being exposed to radiation from any of the following: - Radiation therapy to the breast or chest. - Radon in the home or workplace. - Imaging tests such as CT scans. - Atomic bomb radiation. - Being exposed to asbestos, chromium, nickel, beryllium, arsenic, soot, or tar in the workplace. - Living where there is air pollution. - Having a family history of lung cancer. - Being infected with the human immunodeficiency virus (HIV). - Taking beta carotene supplements and being a heavy smoker. Older age is the main risk factor for most cancers. The chance of getting cancer increases as you get older. When smoking is combined with other risk factors, the risk of lung cancer is increased. |
frequency | How many people are affected by 8p11 myeloproliferative syndrome ? | The prevalence of 8p11 myeloproliferative syndrome is unknown. It is thought to be a rare condition. |
inheritance | Is Meningoencephalocele inherited ? | Is meningoencephalocele inherited? Meningoencephalocele is not thought to be an inherited condition. Studies have proposed that meningoencephalocele is likely a multifactorial defect. This means that both environmental factors and multiple genes may interact with each other to cause the condition. Studies have suggested that environmental factors probably play an important role. This information is supported by the fact that several studies have not identified the condition among close relatives of affected individuals. To date, there have been no genes identified that are likely to play a strong part in causing the condition. |
inheritance | Is Stve-Wiedemann syndrome 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. |
symptoms | What are the symptoms of Proteinuria ? | Proteinuria has no signs or symptoms in the early stages. Large amounts of protein in the urine may cause it to look foamy in the toilet. Also, because protein has left the body, the blood can no longer soak up enough fluid, so swelling in the hands, feet, abdomen, or face may occur. This swelling is called edema. These are signs of large protein loss and indicate that kidney disease has progressed. Laboratory testing is the only way to find out whether protein is in a persons urine before extensive kidney damage occurs.
Several health organizations recommend regular urine checks for people at risk for CKD. A 1996 study sponsored by the National Institutes of Health determined that proteinuria is the best predictor of progressive kidney failure in people with type 2 diabetes. The American Diabetes Association recommends regular urine testing for proteinuria for people with type 1 or type 2 diabetes. The National Kidney Foundation recommends that routine checkups include testing for excess protein in the urine, especially for people in high-risk groups. |
susceptibility | Who is at risk for Pulmonary Hypertension? ? | The exact number of people who have pulmonary hypertension (PH) isn't known.
Group 1 pulmonary arterial hypertension (PAH) without a known cause is rare. It affects women more often than men. People who have group 1 PAH tend to be overweight.
PH that occurs with another disease or condition is more common.
PH usually develops between the ages of 20 and 60, but it can occur at any age. People who are at increased risk for PH include:
Those who have a family history of the condition.
Those who have certain diseases or conditions, such as heart and lung diseases, liver disease, HIV infection, or blood clots in the pulmonary arteries. (For more information about the diseases, conditions, and factors that cause PH, go to "Types of Pulmonary Hypertension.")
Those who use street drugs (such as cocaine) or certain diet medicines.
Those who live at high altitudes. |
information | What is (are) Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia ? | Hypohidrotic ectodermal dysplasia with hypothyroidism and ciliary dyskinesia is a rare condition characterized by alopecia (hair loss); nail dystrophy (abnormal development of the nails); ophthalmic (eye-related) complications; thyroid dysfunction (primary hypothyroidism); hypohidrosis; ephelides (freckles); enteropathy (disease of the intestine); and respiratory tract infections due to ciliary dyskinesia. These features have lead to the acronym ANOTHER syndrome as an alternative name for the condition. The gene that causes the condition is currently unknown but it is thought to be inherited in an autosomal recessive manner. Treatment is generally symptomatic and supportive. |
information | What is (are) Hypoglycemia ? | Hypoglycemia, also called low blood glucose or low blood sugar, occurs when blood glucose drops below normal levels. Glucose, an important source of energy for the body, comes from food. Carbohydrates are the main dietary source of glucose. Rice, potatoes, bread, tortillas, cereal, milk, fruit, and sweets are all carbohydrate-rich foods.
After a meal, glucose is absorbed into the bloodstream and carried to the body's cells. Insulin, a hormone made by the pancreas, helps the cells use glucose for energy. If a person takes in more glucose than the body needs at the time, the body stores the extra glucose in the liver and muscles in a form called glycogen. The body can use glycogen for energy between meals. Extra glucose can also be changed to fat and stored in fat cells. Fat can also be used for energy.
When blood glucose begins to fall, glucagonanother hormone made by the pancreassignals the liver to break down glycogen and release glucose into the bloodstream. Blood glucose will then rise toward a normal level. In some people with diabetes, this glucagon response to hypoglycemia is impaired and other hormones such as epinephrine, also called adrenaline, may raise the blood glucose level. But with diabetes treated with insulin or pills that increase insulin production, glucose levels can't easily return to the normal range.
Hypoglycemia can happen suddenly. It is usually mild and can be treated quickly and easily by eating or drinking a small amount of glucose-rich food. If left untreated, hypoglycemia can get worse and cause confusion, clumsiness, or fainting. Severe hypoglycemia can lead to seizures, coma, and even death.
In adults and children older than 10 years, hypoglycemia is uncommon except as a side effect of diabetes treatment. Hypoglycemia can also result, however, from other medications or diseases, hormone or enzyme deficiencies, or tumors. |
treatment | What are the treatments for congenital deafness with labyrinthine aplasia, microtia, and microdontia ? | These resources address the diagnosis or management of LAMM syndrome: - Gene Review: Gene Review: Congenital Deafness with Labyrinthine Aplasia, Microtia, and Microdontia - Genetic Testing Registry: Deafness with labyrinthine aplasia microtia and microdontia (LAMM) 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 |
inheritance | Is atypical hemolytic-uremic syndrome inherited ? | Most cases of atypical hemolytic-uremic syndrome are sporadic, which means that they occur in people with no apparent history of the disorder in their family. Less than 20 percent of all cases have been reported to run in families. When the disorder is familial, it can have an autosomal dominant or an autosomal recessive pattern of inheritance. Autosomal dominant inheritance means one copy of an altered gene in each cell is sufficient to increase the risk of the disorder. In some cases, an affected person inherits the mutation from one affected parent. However, most people with the autosomal dominant form of atypical hemolytic-uremic syndrome have no history of the disorder in their family. Because not everyone who inherits a gene mutation will develop the signs and symptoms of the disease, an affected individual may have unaffected relatives who carry a copy of the mutation. Autosomal recessive inheritance means both copies of a 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. |
frequency | How many people are affected by Wolfram syndrome ? | The estimated prevalence of Wolfram syndrome type 1 is 1 in 500,000 people worldwide. Approximately 200 cases have been described in the scientific literature. Only a few families from Jordan have been found to have Wolfram syndrome type 2. |
information | What is (are) white sponge nevus ? | White sponge nevus is a condition characterized by the formation of white patches of tissue called nevi (singular: nevus) that appear as thickened, velvety, sponge-like tissue. The nevi are most commonly found on the moist lining of the mouth (oral mucosa), especially on the inside of the cheeks (buccal mucosa). Affected individuals usually develop multiple nevi. Rarely, white sponge nevi also occur on the mucosae (singular: mucosa) of the nose, esophagus, genitals, or anus. The nevi are caused by a noncancerous (benign) overgrowth of cells. White sponge nevus can be present from birth but usually first appears during early childhood. The size and location of the nevi can change over time. In the oral mucosa, both sides of the mouth are usually affected. The nevi are generally painless, but the folds of extra tissue can promote bacterial growth, which can lead to infection that may cause discomfort. The altered texture and appearance of the affected tissue, especially the oral mucosa, can be bothersome for some affected individuals. |
outlook | What is the outlook for SUNCT Headache ? | There is no cure for these headaches. The disorder is not fatal but can cause considerable discomfort. |
information | What is (are) Lichen planus pigmentosus ? | Lichen planus pigmentosus (LPP) is a rare form of lichen planus. It is characterized by oval or irregularly shaped brown to gray-brown macules and patches on the skin. Areas that are exposed to sun such as the forehead, temples and neck are most commonly affected. However, the macules and patches may also develop on the trunk or in places where two areas of skin touch or rub together (i.e. the armpit, groin, etc). LPP is a chronic, relapsing condition with periods of exacerbations (worsening symptoms) separated by periods of remission (a decrease in or disappearance of symptoms). Although the exact underlying cause of LPP is unknown, studies suggest that UV light, viral infections, and certain topical (applied to the skin) agents such as mustard oil and amla oil, may trigger the condition. Treatment for LPP is symptomatic. |
information | What is (are) Charcot-Marie-Tooth Disease ? | Charcot-Marie-Tooth disease (CMT) is a group of genetic nerve disorders. It is named after the three doctors who first identified it. In the United States, CMT affects about 1 in 2,500 people. CMT affects your peripheral nerves. Peripheral nerves carry movement and sensation signals between the brain and spinal cord and the rest of the body. Symptoms usually start around the teen years. Foot problems such as high arches or hammertoes can be early symptoms. As CMT progresses, your lower legs may weaken. Later, your hands may also become weak. Doctors diagnose CMT by doing a neurologic exam, nerve tests, genetic tests, or a nerve biopsy. There is no cure. The disease can be so mild you don't realize you have it or severe enough to make you weak. Physical therapy, occupational therapy, braces and other devices and sometimes surgery can help. NIH: National Institute of Neurological Disorders and Stroke |
treatment | What are the treatments for Gum (Periodontal) Disease ? | Treatments may include deep cleaning, medications, surgery, and bone and tissue grafts. |
inheritance | Is Usher syndrome, type 1E inherited ? | How is Usher syndrome inherited? Usher syndrome is inherited in an autosomal recessive manner. This means that a person must have a change (mutation) in both copies of the disease-causing gene in each cell to have Usher syndrome. One mutated copy is typically inherited from each parent, who are each referred to as a carrier. Carriers of an autosomal recessive condition usually do not have any signs or symptoms. When two carriers of an autosomal recessive condition have children, each child has a 25% (1 in 4) chance to have the condition, a 50% (1 in 2) chance to be an unaffected carrier like each parent, and a 25% chance to not be a carrier and not be affected. |
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