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Hereditary Diffuse Leukoencephalopathy With Spheroids
Hereditary diffuse leukoencephalopathy with spheroids (HDLS) is a rare adult onset autosomal dominant disorder characterized by cerebral white matter degeneration with demyelination and axonal spheroids leading to progressive cognitive and motor dysfunction. Spheroids are axonal swellings with discontinuous or absence of myelin sheaths. It is believed that the disease arises from primary microglial dysfunction that leads to secondary disruption of axonal integrity, neuroaxonal damage, and focal axonal spheroids leading to demyelination. Spheroids in HDLS resemble to some extent those produced by shear stress in a closed head injury with damage to axons, causing them to swell due to blockage of axoplasmic transport. In addition to trauma, axonal spheroids can be found in aged brain, stroke, and in other degenerative diseases.Lin, W. L., Wszolek, Z. K., & Dickson, D. W. (2010). Hereditary diffuse leukoencephalopathy with spheroids: ultrastructural and immunoelectron microscopic stud ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Autosomal Dominant Disorder
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] |
Metachromatic Leukodystrophy
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation. Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern. Signs and symptoms Like many other genetic disorders that affect lipid metabolism, there are several forms of MLD, which are late infantile, juvenile, and adult. * In the ''late infantile form'', which is the most common form of MLD (50–60%), affected children begin having difficulty walking after the first year of life, usually at 15–24 months. Symptoms include muscle wasting and weakness, muscle rigidity, developmental delays, pr ... [...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] |
Paraplegia
Paraplegia, or paraparesis, is an impairment in motor or sensory function of the lower extremities. The word comes from Ionic Greek () "half-stricken". It is usually caused by spinal cord injury or a congenital condition that affects the neural (brain) elements of the spinal canal. The area of the spinal canal that is affected in paraplegia is either the thoracic, lumbar, or sacral regions. If four limbs are affected by paralysis, tetraplegia or quadriplegia is the correct term. If only one limb is affected, the correct term is monoplegia. Spastic paraplegia is a form of paraplegia defined by spasticity of the affected muscles, rather than flaccid paralysis. The American Spinal Injury Association classifies spinal cord injury severity in the following manner. ASIA A is the complete loss of sensory function and motor skills below the injury. ASIA B is having some sensory function below the injury, but no motor function. In ASIA C, there is some motor function below the level of ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Spastic Hemiplegia
Spastic hemiplegia is a neuromuscular condition of spasticity that results in the muscles on one side of the body being in a constant state of contraction. It is the "one-sided version" of spastic diplegia. It falls under the mobility impairment umbrella of cerebral palsy. About 20–30% of people with cerebral palsy have spastic hemiplegia. Due to brain or nerve damage, the brain is constantly sending action potentials to the neuromuscular junctions on the affected side of the body. Similar to strokes, damage on the left side of the brain affects the right side of the body and damage on the right side of the brain affects the left side of the body. Other side can be effected for lesser extent. The affected side of the body is rigid, weak and has low functional abilities. In most cases, the upper extremity is much more affected than the lower extremity. This could be due to preference of hand usage during early development. If both arms are affected, the condition is referred to as ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Mutism
Muteness or mutism () is defined as an absence of speech while conserving or maintaining the ability to hear the speech of others. Mutism is typically understood as a person's inability to speak, and commonly observed by their family members, caregivers, teachers, doctors or speech and language pathologists. It may not be a permanent condition, depending on the cause, which might be physical, medical, organic, psychological, developmental, neurological or traumatic. A specific physical disability or communication disorder can be diagnosed. Loss of previously normal speech (aphasia) can be due to accidents, disease, or surgical complication; it is rarely for psychological reasons. Treatment or management also varies by cause, determined after a speech assessment. Treatment can sometimes restore speech. If not, a range of assistive and augmentative communication devices are available. Organic causes Organic causes of mutism may stem from several different sources. One cause of mu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Apraxia
Apraxia is a motor disorder caused by damage to the brain (specifically the posterior parietal cortex or corpus callosum), which causes difficulty with motor planning to perform tasks or movements. The nature of the damage determines the disorder's severity, and the absence of sensory loss or paralysis helps to explain the level of difficulty. Children may be born with apraxia; its cause is unknown, and symptoms are usually noticed in the early stages of development. Apraxia occurring later in life, known as ''acquired apraxia'', is typically caused by traumatic brain injury, stroke, dementia, Alzheimer's disease, brain tumor, or other neurodegenerative disorders. The multiple types of apraxia are categorized by the specific ability and/or body part affected. The term "apraxia" comes from the Greek ἀ- ''a-'' ("without") and πρᾶξις ''praxis'' ("action"). Types The several types of apraxia include: * Apraxia of speech (AOS) is having difficulty planning and coordinating the ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Alcoholism
Alcoholism is, broadly, any drinking of alcohol (drug), alcohol that results in significant Mental health, mental or physical health problems. Because there is disagreement on the definition of the word ''alcoholism'', it is not a recognized diagnostic entity. Predominant diagnostic classifications are alcohol use disorder (DSM-5) or alcohol dependence (ICD-11); these are defined in their respective sources. Excessive alcohol use can damage all organ systems, but it particularly affects the brain, heart, liver, pancreas and immune system. Alcoholism can result in mental illness, delirium tremens, Wernicke–Korsakoff syndrome, Heart arrhythmia, irregular heartbeat, an impaired immune response, liver cirrhosis and alcohol and cancer, increased cancer risk. Drinking during pregnancy can result in fetal alcohol spectrum disorders. Women are generally more sensitive than men to the harmful effects of alcohol, primarily due to their smaller body weight, lower capacity to metaboli ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Substance Abuse
Substance abuse, also known as drug abuse, is the use of a drug in amounts or by methods which are harmful to the individual or others. It is a form of substance-related disorder. Differing definitions of drug abuse are used in public health, medical and criminal justice contexts. In some cases, criminal or anti-social behaviour occurs when the person is under the influence of a drug, and long-term personality changes in individuals may also occur. In addition to possible physical, social, and psychological harm, the use of some drugs may also lead to criminal penalties, although these vary widely depending on the local jurisdiction.. Drugs most often associated with this term include: alcohol, amphetamines, barbiturates, benzodiazepines, cannabis, cocaine, hallucinogens (although there is no known ''psychedelic'', one of the three categories of hallucinogens, that has been found to have any addictive potential), methaqualone, and opioids. The exact cause of substance abu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oligodendrocyte
Oligodendrocytes (), or oligodendroglia, are a type of neuroglia whose main functions are to provide support and insulation to axons in the central nervous system of jawed vertebrates, equivalent to the function performed by Schwann cells in the peripheral nervous system. Oligodendrocytes do this by creating the myelin sheath. A single oligodendrocyte can extend its processes to 50 axons, wrapping approximately 1 μm of myelin sheath around each axon; Schwann cells, on the other hand, can wrap around only one axon. Each oligodendrocyte forms one segment of myelin for several adjacent axons. Oligodendrocytes are found only in the central nervous system, which comprises the brain and spinal cord. These cells were originally thought to have been produced in the ventral neural tube; however, research now shows oligodendrocytes originate from the ventral ventricular zone of the embryonic spinal cord and possibly have some concentrations in the forebrain. They are the last cell ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Astrocytes
Astrocytes (from Ancient Greek , , "star" + , , "cavity", "cell"), also known collectively as astroglia, are characteristic star-shaped glial cells in the brain and spinal cord. They perform many functions, including biochemical control of endothelial cells that form the blood–brain barrier, provision of nutrients to the nervous tissue, maintenance of extracellular ion balance, regulation of cerebral blood flow, and a role in the repair and scarring process of the brain and spinal cord following infection and traumatic injuries. The proportion of astrocytes in the brain is not well defined; depending on the counting technique used, studies have found that the astrocyte proportion varies by region and ranges from 20% to 40% of all glia. Another study reports that astrocytes are the most numerous cell type in the brain. Astrocytes are the major source of cholesterol in the central nervous system. Apolipoprotein E transports cholesterol from astrocytes to neurons and other glial ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Rarefaction
Rarefaction is the reduction of an item's density, the opposite of compression. Like compression, which can travel in waves (sound waves, for instance), rarefaction waves also exist in nature. A common rarefaction wave is the area of low relative pressure following a shock wave (see picture). Rarefaction waves expand with time (much like sea waves spread out as they reach a beach); in most cases rarefaction waves keep the same overall profile ('shape') at all times throughout the wave's movement: it is a ''self-similar expansion''. Each part of the wave travels at the local speed of sound, in the local medium. This expansion behaviour contrasts with that of pressure increases, which gets narrower with time until they steepen into shock waves. When angle of incidence is greater than angle of refraction, then light travels from denser to rarer medium. When angle of incidence is smaller than angle of refraction then light travels from rarer to denser medium Physical examples A nat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
