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Mitochondrial DNA Depletion Syndrome
Mitochondrial DNA depletion syndrome (MDS or MDDS), or Alper's disease, is any of a group of autosomal recessive disorders that cause a significant drop in mitochondrial DNA in affected tissues. Symptoms can be any combination of myopathic, hepatopathic, or encephalomyopathic. These syndromes affect tissue in the muscle, liver, or both the muscle and brain, respectively. The condition is typically fatal in infancy and early childhood, though some have survived to their teenage years with the myopathic variant and some have survived into adulthood with the SUCLA2 encephalomyopathic variant. There is currently no curative treatment for any form of MDDS, though some preliminary treatments have shown a reduction in symptoms. Signs and symptoms All forms of MDDS are very rare. MDDS causes a wide range of symptoms, which can appear in newborns, infants, children, or adults, depending on the class of MDDS; within each class symptoms are also diverse. In MDDS associated with mutati ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dominance (genetics)
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and the second is called recessive. This state of having two different variants of the same gene on each chromosome is originally caused by a mutation in one of the genes, either new (''de novo'') or inherited. The terms autosomal dominant or autosomal recessive are used to describe gene variants on non-sex chromosomes ( autosomes) and their associated traits, while those on sex chromosomes (allosomes) are termed X-linked dominant, X-linked recessive or Y-linked; these have an inheritance and presentation pattern that depends on the sex of both the parent and the child (see Sex linkage). Since there is only one Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance, such as incomp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsy
Epilepsy is a group of Non-communicable disease, non-communicable Neurological disorder, neurological disorders characterized by a tendency for recurrent, unprovoked Seizure, seizures. A seizure is a sudden burst of abnormal electrical activity in the brain that can cause a variety of symptoms, ranging from brief lapses of awareness or muscle jerks to prolonged convulsions. These episodes can result in physical injuries, either directly, such as broken bones, or through causing accidents. The diagnosis of epilepsy typically requires at least two unprovoked seizures occurring more than 24 hours apart. In some cases, however, it may be diagnosed after a single unprovoked seizure if clinical evidence suggests a high risk of recurrence. Isolated seizures that occur without recurrence risk or are provoked by identifiable causes are not considered indicative of epilepsy. The underlying cause is often unknown, but epilepsy can result from brain injury, stroke, infections, Brain tumor, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intellectual Disability
Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental disorder characterized by significant impairment in intellectual and adaptive functioning that is first apparent during childhood. Children with intellectual disabilities typically have an intelligence quotient (IQ) below 70 and deficits in at least two adaptive behaviors that affect everyday living. According to the DSM-5, intellectual functions include reasoning, problem solving, planning, abstract thinking, judgment, academic learning, and learning from experience. Deficits in these functions must be confirmed by clinical evaluation and individualized standard IQ testing. On the other hand, adaptive behaviors include the social, developmental, and practical skills people learn to perform tasks in their everyday lives. Deficits in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epileptic Seizure
A seizure is a sudden, brief disruption of brain activity caused by abnormal, excessive, or synchronous neuronal firing. Depending on the regions of the brain involved, seizures can lead to changes in movement, sensation, behavior, awareness, or consciousness. Symptoms vary widely. Some seizures involve subtle changes, such as brief lapses in attention or awareness (as seen in absence seizures), while others cause generalized convulsions with loss of consciousness ( tonic–clonic seizures). Most seizures last less than two minutes and are followed by a postictal period of confusion, fatigue, or other symptoms. A seizure lasting longer than five minutes is a medical emergency known as status epilepticus. Seizures are classified as provoked, when triggered by a known cause such as fever, head trauma, or metabolic imbalance, or unprovoked, when no immediate trigger is identified. Recurrent unprovoked seizures define the neurological condition epilepsy. Clinical features Seizure ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peter Huttenlocher
Peter Richard Huttenlocher (February 23, 1931 – August 15, 2013) was a German-American pediatric neurologist and neuroscientist who discovered how the brain develops in children. He is considered to be one of the fathers of developmental cognitive neuroscience. Work Huttenlocher discovered that synapses are created in the first few months of a child's development, and then "pruned", by examining the brains of about 50 people, mostly infants and young children who had died unexpectedly, but also a few adults, one of them age 90. Using an electron microscope to count image samples of material, and then manually counting the synapses, he showed that synaptic density was low at birth, about 2,500 connections per neuron. It increased rapidly to levels 50 to 60 percent above adult levels, and then gradually declined, falling to typical adult values. He had originally intended to study defective parts of the brain, but found that: "Paradoxically, in our early studies, the findings in ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bernard Jacob Alpers
Bernard (''Bernhard'') is a French and West Germanic masculine given name. It has West Germanic origin and is also a surname. The name is attested from at least the 9th century. West Germanic ''Bernhard'' is composed from the two elements ''bern'' "bear" and ''hard'' "brave, hardy". Its native Old English cognate was ''Beornheard'', which was replaced or merged with the French form ''Bernard'' that was brought to England after the Norman Conquest. The name ''Bernhard'' was notably popular among Old Frisian speakers. Its wider use was popularized due to Saint Bernhard of Clairvaux (canonized in 1174). In Ireland, the name was an anglicized form of Brian. Geographical distribution Bernard is the second most common surname in France. As of 2014, 42.2% of all known bearers of the surname ''Bernard'' were residents of France (frequency 1:392), 12.5% of the United States (1:7,203), 7.0% of Haiti (1:382), 6.6% of Tanzania (1:1,961), 4.8% of Canada (1:1,896), 3.6% of Nigeria (1:12,221) ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cornea
The cornea is the transparency (optics), transparent front part of the eyeball which covers the Iris (anatomy), iris, pupil, and Anterior chamber of eyeball, anterior chamber. Along with the anterior chamber and Lens (anatomy), lens, the cornea Refraction, refracts light, accounting for approximately two-thirds of the eye's total optical power. In humans, the refractive power of the cornea is approximately 43 dioptres. The cornea can be reshaped by surgical procedures such as LASIK. While the cornea contributes most of the eye's focusing power, its Focus (optics), focus is fixed. Accommodation (eye), Accommodation (the refocusing of light to better view near objects) is accomplished by changing the geometry of the lens. Medical terms related to the cornea often start with the prefix "''wikt:kerat-, kerat-''" from the Ancient Greek, Greek word κέρας, ''horn''. Structure The cornea has myelinated, unmyelinated nerve endings sensitive to touch, temperature and chemicals; a to ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Navajo Neurohepatopathy
The Navajo or Diné are an Indigenous people of the Southwestern United States. Their traditional language is Diné bizaad, a Southern Athabascan language. The states with the largest Diné populations are Arizona (140,263) and New Mexico (108,305). More than three-quarters of the Diné population resides in these two states.American Factfinder The overwhelming majority of Diné are enrolled in the . Some Diné are enrolled in the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Navajo
The Navajo or Diné are an Indigenous people of the Southwestern United States. Their traditional language is Diné bizaad, a Southern Athabascan language. The states with the largest Diné populations are Arizona (140,263) and New Mexico (108,305). More than three-quarters of the Diné population resides in these two states.American Factfinder The overwhelming majority of Diné are enrolled in the . Some Diné are enrolled in th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Nystagmus
Nystagmus is a condition of involuntary (or voluntary, in some cases) Eye movement (sensory), eye movement. People can be born with it but more commonly acquire it in infancy or later in life. In many cases it may result in visual impairment, reduced or limited vision. In normal eyesight, while the Human head, head rotates about an Axis of rotation, axis, distant visual images are sustained by rotating eyes in the opposite direction of the respective axis. The semicircular canals in the vestibule of the ear sense angular acceleration, and send signals to the nuclei for eye movement in the brain. From here, a signal is relayed to the extraocular muscles to allow one's gaze to fix on an object as the head moves. Nystagmus occurs when the semicircular canals are stimulated (e.g., by means of the caloric test, or by disease) while the head is stationary. The direction of ocular movement is related to the semicircular canal that is being stimulated. There are two key forms of nystagm ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Liver Failure
Liver failure is the inability of the liver to perform its normal synthetic and metabolic functions as part of normal physiology. Two forms are recognised, acute and chronic (cirrhosis). Recently, a third form of liver failure known as acute-on-chronic liver failure (ACLF) is increasingly being recognized. Acute Acute liver failure is defined as "the rapid development of hepatocellular dysfunction, specifically coagulopathy and mental status changes (encephalopathy) in a patient without known prior liver disease".:1557 The disease process is associated with the development of a coagulopathy of liver aetiology, and clinically apparent altered level of consciousness due to hepatic encephalopathy. Several important measures are immediately necessary when the patient presents for medical attention. The diagnosis of acute liver failure is based on a physical exam, laboratory findings, patient history, and past medical history to establish mental status changes, coagulopathy, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Metro (British Newspaper)
''Metro'' is a British freesheet tabloid newspaper published by DMG Media. The newspaper is distributed from Monday to Friday mornings on public places in areas of England, Wales and Scotland (excluding public holidays and the period between Christmas Eve and New Year's Day inclusive). Copies are also handed out to pedestrians. In 2018, Metro overtook ''The Sun'' to become the most circulated newspaper in the United Kingdom. ''Metro'' is owned by Daily Mail and General Trust plc (DMGT), part of the same media group as the ''Daily Mail'' and ''The Mail on Sunday'', but in some areas ''Metro'' operates as a franchise with a local newspaper publisher, rather than as a wholly owned concern. While being a sister paper to the conservative ''Daily Mail'', the newspaper has never endorsed any political party or candidate, and says it takes a neutral political stance in its reporting. [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
