|
Diabetes Mellitus And Deafness
Diabetes and deafness (DAD) or maternally inherited diabetes and deafness (MIDD) or mitochondrial diabetes is a subtype of diabetes which is caused from a mutation in mitochondrial DNA, which consists of a circular genome. It is associated with the genes MT-TL1, MT-TE, and MT-TK. The point mutation at position 3243A>G, in gene MT-TL1 encoding tRNA leucine 1, is most common. Because mitochondrial DNA is contributed to the embryo by the oocyte and not by spermatozoa, this disease is inherited from maternal family members only. As indicated by the name, MIDD is characterized by diabetes and sensorineural hearing loss. Some individuals also experience more systemic symptoms including eye, muscle, brain, kidney, heart, and gastrointestinal abnormalities, similar to other mitochondrial diseases. Signs and symptoms As suggested by the name, patients with MIDD are subject to sensorineural hearing loss. This begins with a reduction in the perception of frequencies above approximately ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
MT-TL1
Mitochondrially encoded tRNA leucine 1 (UUA/G) also known as MT-TL1 is a transfer RNA which in humans is encoded by the mitochondrial ''MT-TL1'' gene. Structure The ''MT-TL1'' gene is located on the p arm of the mitochondrial DNA at position 12 and it spans 75 base pairs. The structure of a tRNA molecule is a distinctive folded structure which contains three hairpin loops and resembles a three-leafed clover. Function MT-TL1 is a small 75 nucleotide RNA (human mitochondrial map position 3230–3304) that transfers the amino acid leucine to a growing polypeptide chain at the ribosome site of protein synthesis during translation. Also, some studies showed that the ''MT-TL1'' gene pathogenic variants could be attributed to the alterations of mTERF binding efficiency. Clinical significance Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes Mutations in ''MT-TL1'' can result in multiple mitochondrial deficiencies and associated disorders. It is associated ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Kidney
In humans, the kidneys are two reddish-brown bean-shaped blood-filtering organ (anatomy), organs that are a multilobar, multipapillary form of mammalian kidneys, usually without signs of external lobulation. They are located on the left and right in the retroperitoneal space, and in adult humans are about in length. They receive blood from the paired renal artery, renal arteries; blood exits into the paired renal veins. Each kidney is attached to a ureter, a tube that carries excreted urine to the urinary bladder, bladder. The kidney participates in the control of the volume of various body fluids, fluid osmolality, Acid-base homeostasis, acid-base balance, various electrolyte concentrations, and removal of toxins. Filtration occurs in the glomerulus (kidney), glomerulus: one-fifth of the blood volume that enters the kidneys is filtered. Examples of substances reabsorbed are solute-free water, sodium, bicarbonate, glucose, and amino acids. Examples of substances secreted are hy ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Basal Ganglia Disease
Basal ganglia disease is a group of physical problems that occur when the group of nuclei in the brain known as the basal ganglia fail to properly suppress unwanted movements or to properly prime upper motor neuron circuits to initiate motor function. Research indicates that increased output of the basal ganglia inhibits thalamocortical projection neurons. Proper activation or deactivation of these neurons is an integral component for proper movement. If something causes too much basal ganglia output, then the ventral anterior (VA) and ventral lateral (VL) thalamocortical projection neurons become too inhibited, and one cannot initiate voluntary movement. These disorders are known as hypokinetic disorders. However, a disorder leading to abnormally low output of the basal ganglia leads to reduced inhibition, and thus excitation, of the thalamocortical projection neurons (VA and VL) which synapse onto the cortex. This situation leads to an inability to suppress unwanted movements ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Central Nervous System Disease
Central nervous system diseases or central nervous system disorders are a group of neurological disorders that affect the structure or function of the brain or spinal cord, which collectively form the central nervous system (CNS). These disorders may be caused by such things as infection, injury, blood clots, age related degeneration, cancer, autoimmune disfunction, and birth defects. The symptoms vary widely, as do the treatments. Central nervous system tumors are the most common forms of pediatric cancer. Brain tumors are the most frequent and have the highest mortality. Some disorders, such as substance addiction, autism, and ADHD may be regarded as CNS disorders, though the classifications are not without dispute. Signs and symptoms Every disease has different signs and symptoms. Some of them are persistent headache; pain in the face, back, arms, or legs; an inability to concentrate; loss of feeling; memory loss; loss of muscle strength; tremors; seizures; increased reflex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Ataxia
Ataxia (from Greek α- negative prefix+ -τάξις rder= "lack of order") is a neurological sign consisting of lack of voluntary coordination of muscle movements that can include gait abnormality, speech changes, and abnormalities in eye movements, that indicates dysfunction of parts of the nervous system that coordinate movement, such as the cerebellum. These nervous system dysfunctions occur in several different patterns, with different results and different possible causes. Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Friedreich's ataxia has gait abnormality as the most commonly presented symptom. Dystaxia is a mild degree of ataxia. Types Cerebellar The term cerebellar ataxia is used to indicate ataxia due to dysfunction of the cerebellum. The cerebellum is responsible for integrating a significant amount of neural information that is used to coordinate smoothly ongoing movements and to participate in motor planning. A ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebrum
The cerebrum (: cerebra), telencephalon or endbrain is the largest part of the brain, containing the cerebral cortex (of the two cerebral hemispheres) as well as several subcortical structures, including the hippocampus, basal ganglia, and olfactory bulb. In the human brain, the cerebrum is the uppermost region of the central nervous system. The cerebrum prenatal development, develops prenatally from the forebrain (prosencephalon). In mammals, the Dorsum (biology), dorsal telencephalon, or Pallium (neuroanatomy), pallium, develops into the cerebral cortex, and the ventral telencephalon, or Pallium (neuroanatomy), subpallium, becomes the basal ganglia. The cerebrum is also divided into approximately symmetric Lateralization of brain function, left and right cerebral hemispheres. With the assistance of the cerebellum, the cerebrum controls all voluntary actions in the human body. Structure The cerebrum is the largest part of the brain. Depending upon the position of the animal, ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cerebellum
The cerebellum (: cerebella or cerebellums; Latin for 'little brain') is a major feature of the hindbrain of all vertebrates. Although usually smaller than the cerebrum, in some animals such as the mormyrid fishes it may be as large as it or even larger. In humans, the cerebellum plays an important role in motor control and cognition, cognitive functions such as attention and language as well as emotion, emotional control such as regulating fear and pleasure responses, but its movement-related functions are the most solidly established. The human cerebellum does not initiate movement, but contributes to motor coordination, coordination, precision, and accurate timing: it receives input from sensory systems of the spinal cord and from other parts of the brain, and integrates these inputs to fine-tune motor activity. Cerebellar damage produces disorders in fine motor skill, fine movement, sense of balance, equilibrium, list of human positions, posture, and motor learning in humans. ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Atrophy
Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can destroy the gene to build up the organ), malnutrition, poor nourishment, poor circulatory system, circulation, loss of hormone, hormonal support, loss of nerve supply to the target Organ (anatomy), organ, excessive amount of apoptosis of cells, and disuse or lack of exercise or disease intrinsic to the tissue itself. In medical practice, hormonal and nerve inputs that maintain an organ or body part are said to have ''trophic'' effects. A diminished muscular trophic condition is designated as ''atrophy''. Atrophy is reduction in size of cell, organ or tissue, after attaining its normal mature growth. In contrast, hypoplasia is the reduction in the cellular numbers of an organ, or tissue that has not attained normal maturity. Atrophy is the general physiological process of reabsorption and breakdown of biological tissue, tissues, involving apoptosis. When it occurs ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypothalamus
The hypothalamus (: hypothalami; ) is a small part of the vertebrate brain that contains a number of nucleus (neuroanatomy), nuclei with a variety of functions. One of the most important functions is to link the nervous system to the endocrine system via the pituitary gland. The hypothalamus is located below the thalamus and is part of the limbic system. It forms the Basal (anatomy), basal part of the diencephalon. All vertebrate brains contain a hypothalamus. In humans, it is about the size of an Almond#Nut, almond. The hypothalamus has the function of regulating certain metabolic biological process, processes and other activities of the autonomic nervous system. It biosynthesis, synthesizes and secretes certain neurohormones, called releasing hormones or hypothalamic hormones, and these in turn stimulate or inhibit the secretion of hormones from the pituitary gland. The hypothalamus controls thermoregulation, body temperature, hunger (physiology), hunger, important aspects o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Sensorineural Hearing Loss
Sensorineural hearing loss (SNHL) is a type of hearing loss in which the root cause lies in the inner ear, sensory organ (cochlea and associated structures), or the vestibulocochlear nerve (Cranial nerves, cranial nerve VIII). SNHL accounts for about 90% of reported hearing loss. SNHL is usually permanent and can be mild, moderate, severe, profound, or total. Various other descriptors can be used depending on the shape of the audiogram, such as high frequency, low frequency, U-shaped, notched, peaked, or flat. ''Sensory'' hearing loss often occurs as a consequence of damaged or deficient cochlear hair cells. Hair cells may be abnormal at birth or damaged during the lifetime of an individual. There are both external causes of damage, including Ear infection, infection, and Ototoxicity, ototoxic drugs, as well as intrinsic causes, including genetic mutations. A common cause or exacerbating factor in SNHL is prolonged exposure to environmental noise, or noise-induced hearing loss. Ex ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Cochlea
The cochlea is the part of the inner ear involved in hearing. It is a spiral-shaped cavity in the bony labyrinth, in humans making 2.75 turns around its axis, the modiolus (cochlea), modiolus. A core component of the cochlea is the organ of Corti, the sensory organ of hearing, which is distributed along the partition separating the fluid chambers in the coiled tapered tube of the cochlea. Etymology The name 'cochlea' is derived from the Latin word for ''snail shell'', which in turn is from the Greek language, Ancient Greek κοχλίας ''kokhlias'' ("snail, screw"), and from κόχλος ''kokhlos'' ("spiral shell") in reference to its coiled shape; the cochlea is coiled in mammals with the exception of monotremes. Structure The cochlea (: cochleae) is a spiraled, hollow, conical chamber of bone, in which waves propagate from the base (near the middle ear and the oval window) to the apex (the top or center of the spiral). The spiral canal of the cochlea is a section of the b ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Fovea Centralis
The ''fovea centralis'' is a small, central pit composed of closely packed Cone cell, cones in the eye. It is located in the center of the ''macula lutea'' of the retina. The ''fovea'' is responsible for sharp central visual perception, vision (also called foveal vision), which is necessary in humans for activities for which visual detail is of primary importance, such as reading (activity), reading and driving. The fovea is surrounded by the ''parafovea'' belt and the ''perifovea'' outer region. The ''parafovea'' is the intermediate belt, where the Retinal ganglion cell, ganglion cell layer is composed of more than five layers of cells, as well as the highest density of cones; the ''perifovea'' is the outermost region where the ganglion cell layer contains two to four layers of cells, and is where visual acuity is below the optimum. The ''perifovea'' contains an even more diminished density of cones, having 12 per 100 micrometres versus 50 per 100 micrometres in the most centra ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
