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Alpers Disease
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 mutations ... [...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 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 copy of the Y chromosome, Y-linked traits cannot be dominant or recessive. Additionally, there are other forms of dominance such as incomplete d ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Charlie Gard Case
The Charlie Gard case was a best interests case in 2017 involving Charles Matthew William "Charlie" Gard (4 August 2016 – 28 July 2017), an infant boy from London, born with mitochondrial DNA depletion syndrome (MDDS), a rare genetic disorder that causes progressive brain damage and muscle failure. MDDS has no treatment and usually causes death in infancy. The case became controversial because the medical team and parents disagreed about whether experimental treatment was in the best interests of the child. In October 2016, Charlie was transferred to London's Great Ormond Street Hospital (GOSH), a National Health Service (NHS) children's hospital, because he was failing to thrive and his breathing was shallow. He was placed on mechanical ventilation and MDDS was diagnosed. A neurologist in New York, Michio Hirano, who was working on an experimental treatment based on nucleoside supplementation with human MDDS patients was contacted. He and GOSH agreed to proceed with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Optic Nerve
In neuroanatomy, the optic nerve, also known as the second cranial nerve, cranial nerve II, or simply CN II, is a paired cranial nerve that transmits visual system, visual information from the retina to the brain. In humans, the optic nerve is derived from optic stalks during the seventh week of development and is composed of retinal ganglion cell axons and glial cells; it extends from the optic disc to the optic chiasma and continues as the optic tract to the lateral geniculate nucleus, Pretectal area, pretectal nuclei, and superior colliculus. Structure The optic nerve has been classified as the second of twelve paired cranial nerves, but it is technically part of the central nervous system, rather than the peripheral nervous system because it is derived from an out-pouching of the diencephalon (optic stalks) during embryonic development. As a consequence, the fibers of the optic nerve are covered with myelin produced by oligodendrocytes, rather than Schwann cells of the per ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epilepsia Partialis Continua
Epilepsia partialis continua is a rare type of brain disorder in which a patient experiences recurrent motor epileptic seizures that are focal (hands and face), and recur every few seconds or minutes for extended periods (days to years). It is sometimes called Kozhevnikov's epilepsia named after Russian psychiatrist Aleksei Yakovlevich Kozhevnikov who first described this type of epilepsy. Signs and symptoms During these seizures, there is repetitive focal myoclonus or Jacksonian march. After a seizure has subsided, Todd's phenomenon may be observed, which includes transient unilateral weakness. Causes There are numerous causes for this kind of seizure and they differ depending somewhat on the age at which the seizures begin. Epilepsy most often occurs at the extremes of life – in childhood or in very old age – but can develop at any time throughout one's life. Although these seizures are usually due to large, acute brain lesions resulting from strokes in adults and focal ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Dementia
Dementia is a disorder which manifests as a set of related symptoms, which usually surfaces when the brain is damaged by injury or disease. The symptoms involve progressive impairments in memory, thinking, and behavior, which negatively affects a person's ability to function and carry out everyday activities. Aside from memory impairment and a disruption in thought patterns, the most common symptoms include emotional problems, difficulties with language, and decreased motivation. The symptoms may be described as occurring in a continuum over several stages. Consciousness is not affected. Dementia ultimately has a significant effect on the individual, caregivers, and on social relationships in general. A diagnosis of dementia requires the observation of a change from a person's usual mental functioning, and a greater cognitive decline than what is caused by normal aging. Several diseases and injuries to the brain, such as a stroke, can give rise to dementia. However, th ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Tetraplegia
Tetraplegia, also known as quadriplegia, is defined as the dysfunction or loss of motor and/or sensory function in the cervical area of the spinal cord. A loss of motor function can present as either weakness or paralysis leading to partial or total loss of function in the arms, legs, trunk, and pelvis; paraplegia is similar but affects the thoracic, lumbar, and sacral segments of the spinal cord and arm function is spared. The paralysis may be flaccid or spastic. A loss of sensory function can present as an impairment or complete inability to sense light touch, pressure, heat, pinprick/pain, and proprioception. In these types of spinal cord injury, it is common to have a loss of both sensation and motor control. Signs and symptoms Although the most obvious symptom is impairment of the limbs, functioning is also impaired in the trunk and pelvic organs. This can lead to loss or impairment of controlling bowel and bladder, sexual function, digestion, breathing and other auton ... [...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,Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010). is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning. It is defined by an IQ under 70, in addition to deficits in two or more adaptive behaviors that affect everyday, general living. Intellectual functions are defined under DSM-V as reasoning, problem‑solving, planning, abstract thinking, judgment, academic learning, and learning from instruction and experience, and practical understanding confirmed by both clinical assessment and standardized tests. Adaptive behavior is defined in terms of conceptual, social, and practical skills involving tasks performed by people in their everyday lives. Intellectual disability is subdivided into syndromic intellectual disability, in which intellectual deficits associated with other medical and be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Epileptic Seizure
An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness ( tonic-clonic seizure), to shaking movements involving only part of the body with variable levels of consciousness ( focal seizure), to a subtle momentary loss of awareness (absence seizure). Most of the time these episodes last less than two minutes and it takes some time to return to normal. Loss of bladder control may occur. Seizures may be provoked and unprovoked. Provoked seizures are due to a temporary event such as low blood sugar, alcohol withdrawal, abusing alcohol together with prescription medication, low blood sodium, fever, brain infection, or concussion. Unprovoked seizures occur without a known or fixable cause such that ongoing seizures are likely. Unprovoked seizures may be exacerbated by stress or ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Peter Huttenlocher
Peter Richard Huttenlocher (23 February 1931 – 15 August 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 He 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 the normal p ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bernard Jacob Alpers
Bernard (''Bernhard'') is a French and West Germanic masculine given name. It 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 reflex was ''Beornheard'', which was replaced by 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). Bernard is the second most common surname in France. Geographical distribution 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), 2.7% of Burundi (1:894), 1.9% of Belgium (1:1,500), 1.6% of Rwanda (1:1,745), 1.2% of German ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cornea
The cornea is the transparent front part of the eye that covers the iris, pupil, and anterior chamber. Along with the anterior chamber and lens, the cornea 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 is fixed. 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 "'' kerat-''" from the Greek word κέρας, ''horn''. Structure The cornea has unmyelinated nerve endings sensitive to touch, temperature and chemicals; a touch of the cornea causes an involuntary reflex to close the eyelid. Because transparency is of prime importance, the healthy cornea does not have or need blood vessels with ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Navajo
The Navajo (; British English: Navaho; nv, Diné or ') are a Native American people of the Southwestern United States. With more than 399,494 enrolled tribal members , the Navajo Nation is the largest federally recognized tribe in the United States; additionally, the Navajo Nation has the largest reservation in the country. The reservation straddles the Four Corners region and covers more than 27,325 square miles (70,000 square km) of land in Arizona, Utah, and New Mexico. The Navajo Reservation is slightly larger than the state of West Virginia. The Navajo language is spoken throughout the region, and most Navajos also speak English. The states with the largest Navajo populations are Arizona (140,263) and New Mexico (108,306). More than three-fourths of the enrolled Navajo population resides in these two states. [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
