Decrease in the size of a cell, tissue, organ, or multiple organs, associated with a variety of pathological conditions such as abnormal cellular changes, ischemia, malnutrition, or hormonal changes.
Derangement in size and number of muscle fibers occurring with aging, reduction in blood supply, or following immobilization, prolonged weightlessness, malnutrition, and particularly in denervation.
Atrophy of the optic disk which may be congenital or acquired. This condition indicates a deficiency in the number of nerve fibers which arise in the RETINA and converge to form the OPTIC DISK; OPTIC NERVE; OPTIC CHIASM; and optic tracts. GLAUCOMA; ISCHEMIA; inflammation, a chronic elevation of intracranial pressure, toxins, optic nerve compression, and inherited conditions (see OPTIC ATROPHIES, HEREDITARY) are relatively common causes of this condition.
A group of disorders marked by progressive degeneration of motor neurons in the spinal cord resulting in weakness and muscular atrophy, usually without evidence of injury to the corticospinal tracts. Diseases in this category include Werdnig-Hoffmann disease and later onset SPINAL MUSCULAR ATROPHIES OF CHILDHOOD, most of which are hereditary. (Adams et al., Principles of Neurology, 6th ed, p1089)
A syndrome complex composed of three conditions which represent clinical variants of the same disease process: STRIATONIGRAL DEGENERATION; SHY-DRAGER SYNDROME; and the sporadic form of OLIVOPONTOCEREBELLAR ATROPHIES. Clinical features include autonomic, cerebellar, and basal ganglia dysfunction. Pathologic examination reveals atrophy of the basal ganglia, cerebellum, pons, and medulla, with prominent loss of autonomic neurons in the brain stem and spinal cord. (From Adams et al., Principles of Neurology, 6th ed, p1076; Baillieres Clin Neurol 1997 Apr;6(1):187-204; Med Clin North Am 1999 Mar;83(2):381-92)
A group of recessively inherited diseases that feature progressive muscular atrophy and hypotonia. They are classified as type I (Werdnig-Hoffman disease), type II (intermediate form), and type III (Kugelberg-Welander disease). Type I is fatal in infancy, type II has a late infantile onset and is associated with survival into the second or third decade. Type III has its onset in childhood, and is slowly progressive. (J Med Genet 1996 Apr:33(4):281-3)
A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei. Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS, PATHOLOGIC; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA. The familial form has an earlier onset (second decade) and may feature spinal cord atrophy. The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY. (From Adams et al., Principles of Neurology, 6th ed, p1085)
Progressive, autosomal recessive, diffuse atrophy of the choroid, pigment epithelium, and sensory retina that begins in childhood.
A form of MACULAR DEGENERATION also known as dry macular degeneration marked by occurrence of a well-defined progressive lesion or atrophy in the central part of the RETINA called the MACULA LUTEA. It is distinguishable from WET MACULAR DEGENERATION in that the latter involves neovascular exudates.
A SMN complex protein that is essential for the function of the SMN protein complex. In humans the protein is encoded by a single gene found near the inversion telomere of a large inverted region of CHROMOSOME 5. Mutations in the gene coding for survival of motor neuron 1 protein may result in SPINAL MUSCULAR ATROPHIES OF CHILDHOOD.
Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from diseases intrinsic to muscle tissue (e.g., MUSCULAR DYSTROPHY) or secondary to PERIPHERAL NERVOUS SYSTEM DISEASES that impair innervation to muscle tissue (e.g., MUSCULAR ATROPHY, SPINAL).
Non-invasive method of demonstrating internal anatomy based on the principle that atomic nuclei in a strong magnetic field absorb pulses of radiofrequency energy and emit them as radiowaves which can be reconstructed into computerized images. The concept includes proton spin tomographic techniques.
Dominant optic atrophy is a hereditary optic neuropathy causing decreased visual acuity, color vision deficits, a centrocecal scotoma, and optic nerve pallor (Hum. Genet. 1998; 102: 79-86). Mutations leading to this condition have been mapped to the OPA1 gene at chromosome 3q28-q29. OPA1 codes for a dynamin-related GTPase that localizes to mitochondria.
A complex of proteins that assemble the SNRNP CORE PROTEINS into a core structure that surrounds a highly conserved RNA sequence found in SMALL NUCLEAR RNA. They are found localized in the GEMINI OF COILED BODIES and in the CYTOPLASM. The SMN complex is named after the Survival of Motor Neuron Complex Protein 1, which is a critical component of the complex.
A SMN complex protein that is closely-related to SURVIVAL OF MOTOR NEURON 1 PROTEIN. In humans, the protein is encoded by an often duplicated gene found near the inversion centromere of a large inverted region of CHROMOSOME 5.
Technique for limiting use, activity, or movement by immobilizing or restraining animal by suspending from hindlimbs or tails. This immobilization is used to simulate some effects of reduced gravity and study weightlessness physiology.
A subtype of striated muscle, attached by TENDONS to the SKELETON. Skeletal muscles are innervated and their movement can be consciously controlled. They are also called voluntary muscles.
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
The part of CENTRAL NERVOUS SYSTEM that is contained within the skull (CRANIUM). Arising from the NEURAL TUBE, the embryonic brain is comprised of three major parts including PROSENCEPHALON (the forebrain); MESENCEPHALON (the midbrain); and RHOMBENCEPHALON (the hindbrain). The developed brain consists of CEREBRUM; CEREBELLUM; and other structures in the BRAIN STEM.
GASTRITIS with atrophy of the GASTRIC MUCOSA, the GASTRIC PARIETAL CELLS, and the mucosal glands leading to ACHLORHYDRIA. Atrophic gastritis usually progresses from chronic gastritis.
A subset of ubiquitin protein ligases that are formed by the association of a SKP DOMAIN PROTEIN, a CULLIN DOMAIN PROTEIN and a F-BOX DOMAIN PROTEIN.
Hereditary conditions that feature progressive visual loss in association with optic atrophy. Relatively common forms include autosomal dominant optic atrophy (OPTIC ATROPHY, AUTOSOMAL DOMINANT) and Leber hereditary optic atrophy (OPTIC ATROPHY, HEREDITARY, LEBER).
Incoordination of voluntary movements that occur as a manifestation of CEREBELLAR DISEASES. Characteristic features include a tendency for limb movements to overshoot or undershoot a target (dysmetria), a tremor that occurs during attempted movements (intention TREMOR), impaired force and rhythm of diadochokinesis (rapidly alternating movements), and GAIT ATAXIA. (From Adams et al., Principles of Neurology, 6th ed, p90)
A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)
Diseases of the uvea.
The measurement of an organ in volume, mass, or heaviness.
A degenerative disease of the central nervous system characterized by balance difficulties; OCULAR MOTILITY DISORDERS (supranuclear ophthalmoplegia); DYSARTHRIA; swallowing difficulties; and axial DYSTONIA. Onset is usually in the fifth decade and disease progression occurs over several years. Pathologic findings include neurofibrillary degeneration and neuronal loss in the dorsal MESENCEPHALON; SUBTHALAMIC NUCLEUS; RED NUCLEUS; pallidum; dentate nucleus; and vestibular nuclei. (From Adams et al., Principles of Neurology, 6th ed, pp1076-7)
The protein constituents of muscle, the major ones being ACTINS and MYOSINS. More than a dozen accessory proteins exist including TROPONIN; TROPOMYOSIN; and DYSTROPHIN.
A syndrome characterized by slowly progressive unilateral atrophy of facial subcutaneous fat, muscle tissue, skin, cartilage, and bone. The condition typically progresses over a period of 2-10 years and then stabilizes.
A pyridoxal phosphate enzyme that catalyzes the formation of glutamate gamma-semialdehyde and an L-amino acid from L-ornithine and a 2-keto-acid. EC 2.6.1.13.
A progressive neurodegenerative condition of the central and autonomic nervous systems characterized by atrophy of the preganglionic lateral horn neurons of the thoracic spinal cord. This disease is generally considered a clinical variant of MULTIPLE SYSTEM ATROPHY. Affected individuals present in the fifth or sixth decade with ORTHOSTASIS and bladder dysfunction; and later develop FECAL INCONTINENCE; anhidrosis; ATAXIA; IMPOTENCE; and alterations of tone suggestive of basal ganglia dysfunction. (From Adams et al., Principles of Neurology, 6th ed, p536)
The resection or removal of the innervation of a muscle or muscle tissue.
Large, multinucleate single cells, either cylindrical or prismatic in shape, that form the basic unit of SKELETAL MUSCLE. They consist of MYOFIBRILS enclosed within and attached to the SARCOLEMMA. They are derived from the fusion of skeletal myoblasts (MYOBLASTS, SKELETAL) into a syncytium, followed by differentiation.
Disturbances in mental processes related to learning, thinking, reasoning, and judgment.
Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.
A heterogenous group of degenerative syndromes marked by progressive cerebellar dysfunction either in isolation or combined with other neurologic manifestations. Sporadic and inherited subtypes occur. Inheritance patterns include autosomal dominant, autosomal recessive, and X-linked.
The worsening of a disease over time. This concept is most often used for chronic and incurable diseases where the stage of the disease is an important determinant of therapy and prognosis.
Lower lateral part of the cerebral hemisphere responsible for auditory, olfactory, and semantic processing. It is located inferior to the lateral fissure and anterior to the OCCIPITAL LOBE.
An inhibitor of apoptosis protein that was initially identified during analysis of CHROMOSOME DELETIONS associated with SPINAL MUSCULAR ATROPHY. Naip contains a nucleotide binding oligomerization domain and a carboxy-terminal LEUCINE rich repeat.
This is one of 2 related pepsinogen systems in humans and is also known as pepsinogen. (The other is PEPSINOGEN C.) This includes isozymogens Pg1-Pg5 (pepsinogens 1-5, group I or products of PGA1-PGA5 genes). This is the main pepsinogen found in urine.
A heterogeneous group of primarily familial disorders characterized by myoclonic seizures, tonic-clonic seizures, ataxia, progressive intellectual deterioration, and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES), and UNVERRICHT-LUNDBORG SYNDROME.
An acquired organic mental disorder with loss of intellectual abilities of sufficient severity to interfere with social or occupational functioning. The dysfunction is multifaceted and involves memory, behavior, personality, judgment, attention, spatial relations, language, abstract thought, and other executive functions. The intellectual decline is usually progressive, and initially spares the level of consciousness.
The restriction of the MOVEMENT of whole or part of the body by physical means (RESTRAINT, PHYSICAL) or chemically by ANALGESIA, or the use of TRANQUILIZING AGENTS or NEUROMUSCULAR NONDEPOLARIZING AGENTS. It includes experimental protocols used to evaluate the physiologic effects of immobility.
The gradual irreversible changes in structure and function of an organism that occur as a result of the passage of time.
Pathologic conditions affecting the BRAIN, which is composed of the intracranial components of the CENTRAL NERVOUS SYSTEM. This includes (but is not limited to) the CEREBRAL CORTEX; intracranial white matter; BASAL GANGLIA; THALAMUS; HYPOTHALAMUS; BRAIN STEM; and CEREBELLUM.
Degenerative changes in the RETINA usually of older adults which results in a loss of vision in the center of the visual field (the MACULA LUTEA) because of damage to the retina. It occurs in dry and wet forms.
Neurons which activate MUSCLE CELLS.
The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)
A growth differentiation factor that is a potent inhibitor of SKELETAL MUSCLE growth. It may play a role in the regulation of MYOGENESIS and in muscle maintenance during adulthood.
A technique of inputting two-dimensional images into a computer and then enhancing or analyzing the imagery into a form that is more useful to the human observer.
Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, GAIT ATAXIA, and MUSCLE HYPOTONIA.
A curved elevation of GRAY MATTER extending the entire length of the floor of the TEMPORAL HORN of the LATERAL VENTRICLE (see also TEMPORAL LOBE). The hippocampus proper, subiculum, and DENTATE GYRUS constitute the hippocampal formation. Sometimes authors include the ENTORHINAL CORTEX in the hippocampal formation.
'Nerve tissue proteins' are specialized proteins found within the nervous system's biological tissue, including neurofilaments, neuronal cytoskeletal proteins, and neural cell adhesion molecules, which facilitate structural support, intracellular communication, and synaptic connectivity essential for proper neurological function.
The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.
A protein that has been shown to function as a calcium-regulated transcription factor as well as a substrate for depolarization-activated CALCIUM-CALMODULIN-DEPENDENT PROTEIN KINASES. This protein functions to integrate both calcium and cAMP signals.
MOTOR NEURONS in the anterior (ventral) horn of the SPINAL CORD which project to SKELETAL MUSCLES.
Visualization of a vascular system after intravenous injection of a fluorescein solution. The images may be photographed or televised. It is used especially in studying the retinal and uveal vasculature.
A malabsorption syndrome that is precipitated by the ingestion of foods containing GLUTEN, such as wheat, rye, and barley. It is characterized by INFLAMMATION of the SMALL INTESTINE, loss of MICROVILLI structure, failed INTESTINAL ABSORPTION, and MALNUTRITION.
This is one of the 2 related pepsinogen systems in humans. It is found in prostate and seminal fluid whereas PEPSINOGEN A is not.
Loss of functional activity and trophic degeneration of nerve axons and their terminal arborizations following the destruction of their cells of origin or interruption of their continuity with these cells. The pathology is characteristic of neurodegenerative diseases. Often the process of nerve degeneration is studied in research on neuroanatomical localization and correlation of the neurophysiology of neural pathways.
Hereditary and sporadic conditions which are characterized by progressive nervous system dysfunction. These disorders are often associated with atrophy of the affected central or peripheral nervous system structures.
The most common clinical form of FRONTOTEMPORAL LOBAR DEGENERATION, this dementia presents with personality and behavioral changes often associated with disinhibition, apathy, and lack of insight.
The thin layer of GRAY MATTER on the surface of the CEREBRAL HEMISPHERES that develops from the TELENCEPHALON and folds into gyri and sulchi. It reaches its highest development in humans and is responsible for intellectual faculties and higher mental functions.
The thin, highly vascular membrane covering most of the posterior of the eye between the RETINA and SCLERA.
Removal and pathologic examination of specimens in the form of small pieces of tissue from the living body.
A vague complaint of debility, fatigue, or exhaustion attributable to weakness of various muscles. The weakness can be characterized as subacute or chronic, often progressive, and is a manifestation of many muscle and neuromuscular diseases. (From Wyngaarden et al., Cecil Textbook of Medicine, 19th ed, p2251)
The part of brain that lies behind the BRAIN STEM in the posterior base of skull (CRANIAL FOSSA, POSTERIOR). It is also known as the "little brain" with convolutions similar to those of CEREBRAL CORTEX, inner white matter, and deep cerebellar nuclei. Its function is to coordinate voluntary movements, maintain balance, and learn motor skills.
A prodromal phase of cognitive decline that may precede the emergence of ALZHEIMER DISEASE and other dementias. It may include impairment of cognition, such as impairments in language, visuospatial awareness, ATTENTION and MEMORY.
Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)
Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.
Four CSF-filled (see CEREBROSPINAL FLUID) cavities within the cerebral hemispheres (LATERAL VENTRICLES), in the midline (THIRD VENTRICLE) and within the PONS and MEDULLA OBLONGATA (FOURTH VENTRICLE).
Proteins that bind to RNA molecules. Included here are RIBONUCLEOPROTEINS and other proteins whose function is to bind specifically to RNA.
A spiral bacterium active as a human gastric pathogen. It is a gram-negative, urease-positive, curved or slightly spiral organism initially isolated in 1982 from patients with lesions of gastritis or peptic ulcers in Western Australia. Helicobacter pylori was originally classified in the genus CAMPYLOBACTER, but RNA sequencing, cellular fatty acid profiles, growth patterns, and other taxonomic characteristics indicate that the micro-organism should be included in the genus HELICOBACTER. It has been officially transferred to Helicobacter gen. nov. (see Int J Syst Bacteriol 1989 Oct;39(4):297-405).
Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders.
Lining of the STOMACH, consisting of an inner EPITHELIUM, a middle LAMINA PROPRIA, and an outer MUSCULARIS MUCOSAE. The surface cells produce MUCUS that protects the stomach from attack by digestive acid and enzymes. When the epithelium invaginates into the LAMINA PROPRIA at various region of the stomach (CARDIA; GASTRIC FUNDUS; and PYLORUS), different tubular gastric glands are formed. These glands consist of cells that secrete mucus, enzymes, HYDROCHLORIC ACID, or hormones.

Indirect evidence for cholinergic inhibition of intestinal bicarbonate absorption in humans. (1/3164)

BACKGROUND: The aim of the study was to test the hypothesis that in the fasting state, proximal intestinal HCO3- absorption, which depends on villus Na+/H+ exchanger activity, is tonically inhibited by a cholinergic atropine sensitive mechanism. SUBJECTS: The experiments were performed in 34 healthy volunteers and in eight patients with intestinal villus atrophy. METHODS: HCO3- absorption was measured with a modified triple lumen perfusion technique in the distal duodenum, the most proximal portion of the small intestine. The study was designed to compensate for the inhibitory effects of atropine on intestinal motor activity. RESULTS: Atropine had three effects on HCO3- transport: it reduced HCO3- concentration at the proximal aspiration site, it displaced the relation between HCO3- concentration and HCO3- absorption to the left, and it induced a significant acidification of the perfusate at the distal aspiration site. The magnitude of the stimulatory effect on HCO3- absorption was similar to the difference between patients with intestinal villus atrophy and healthy controls. CONCLUSION: The data suggest that, in the fasting state, duodenal HCO3- absorption, which depends on villus Na+/H+ exchanger activity, may be tonically inhibited by an atropine sensitive cholinergic mechanism.  (+info)

Proteinuria induces tubular cell turnover: A potential mechanism for tubular atrophy. (2/3164)

BACKGROUND: Proteinuria and tubular atrophy have both been closely linked with progressive renal failure. We hypothesized that apoptosis may be induced by tubular cell exposure to heavy proteinuria, potentially leading to tubular atrophy. Apoptosis was studied in a rat model of "pure" proteinuria, which does not induce renal impairment, namely protein-overload proteinuria. METHODS: Adult female Lewis rats underwent intraperitoneal injection of 2 g of bovine serum albumin (BSA, N = 16) or sham saline injections (controls, N = 8) daily for seven days. Apoptosis was assessed at day 7 in tissue sections using in situ end labeling (ISEL) and electron microscopy. ISEL-positive nuclei (apoptotic particles) were counted in blinded fashion using image analysis with NIH Image. Cell proliferation was assessed by detection of mRNA for histone by in situ hybridization, followed by counting of positive cells using NIH Image. RESULTS: Animals injected with saline showed very low levels of apoptosis on image analysis. BSA-injected rats had heavy proteinuria and showed both cortical and medullary apoptosis on ISEL. This was predominantly seen in the tubules and, to a lesser extent, in the interstitial compartment. Overall, the animals injected with BSA showed a significant 30-fold increase in the number of cortical apoptotic particles. Electron microscopy of tubular cells in a BSA-injected animal showed a progression of ultrastructural changes consistent with tubular cell apoptosis. The BSA-injected animals also displayed a significant increase in proximal tubular cell proliferation. This increased proliferation was less marked than the degree of apoptosis. CONCLUSION: Protein-overload proteinuria in rats induces tubular cell apoptosis. This effect is only partially balanced by proliferation and potentially provides a direct mechanism whereby heavy proteinuria can induce tubular atrophy and progressive renal failure.  (+info)

Computerised tomography and intellectual impairment in the elderly. (3/3164)

Sixty-six elderly subjects (mean age 77 years) whose mental state was assessed clinically and by simple psychometric tests have been studied by computerised tomography. The mean maximum ventricular area in the 17 mentally normal subjects was above the upper limit of normal for younger subjects, and there was a broad relationship between increasing ventricular dilatation and increasing intellectual impairment. No such clear relationship was demonstrable for measures of cortical atrophy.  (+info)

Computerised axial tomography in patients with severe migraine: a preliminary report. (4/3164)

Patients suffering from severe migraine, usually for many years, have been examined by the EMI scanner between attacks. Judged by criteria validated originally by comparison with pneumoencephalography, about half of the patients showed evidence of cerebral atrophy. Perhaps of more significance than generalised atrophy was the frequency of areas of focal atrophy and of evidence of infarction.  (+info)

Increased neurodegeneration during ageing in mice lacking high-affinity nicotine receptors. (5/3164)

We have examined neuroanatomical, biochemical and endocrine parameters and spatial learning in mice lacking the beta2 subunit of the nicotinic acetylcholine receptor (nAChR) during ageing. Aged beta2(-/-) mutant mice showed region-specific alterations in cortical regions, including neocortical hypotrophy, loss of hippocampal pyramidal neurons, astro- and microgliosis and elevation of serum corticosterone levels. Whereas adult mutant and control animals performed well in the Morris maze, 22- to 24-month-old beta2(-/-) mice were significantly impaired in spatial learning. These data show that beta2 subunit-containing nAChRs can contribute to both neuronal survival and maintenance of cognitive performance during ageing. beta2(-/-) mice may thus serve as one possible animal model for some of the cognitive deficits and degenerative processes which take place during physiological ageing and in Alzheimer's disease, particularly those associated with dysfunction of the cholinergic system.  (+info)

Contributory and exacerbating roles of gaseous ammonia and organic dust in the etiology of atrophic rhinitis. (6/3164)

Pigs reared commercially indoors are exposed to air heavily contaminated with particulate and gaseous pollutants. Epidemiological surveys have shown an association between the levels of these pollutants and the severity of lesions associated with the upper respiratory tract disease of swine atrophic rhinitis. This study investigated the role of aerial pollutants in the etiology of atrophic rhinitis induced by Pasteurella multocida. Forty, 1-week-old Large White piglets were weaned and divided into eight groups designated A to H. The groups were housed in Rochester exposure chambers and continuously exposed to the following pollutants: ovalbumin (groups A and B), ammonia (groups C and D), ovalbumin plus ammonia (groups E and F), and unpolluted air (groups G and H). The concentrations of pollutants used were 20 mg m-3 total mass and 5 mg m-3 respirable mass for ovalbumin dust and 50 ppm for ammonia. One week after exposure commenced, the pigs in groups A, C, E, and G were infected with P. multocida type D by intranasal inoculation. After 4 weeks of exposure to pollutants, the pigs were killed and the extent of turbinate atrophy was assessed with a morphometric index (MI). Control pigs kept in clean air and not inoculated with P. multocida (group H) had normal turbinate morphology with a mean MI of 41.12% (standard deviation [SD], +/- 1. 59%). In contrast, exposure to pollutants in the absence of P. multocida (groups B, D, and F) induced mild turbinate atrophy with mean MIs of 49.65% (SD, +/-1.96%), 51.04% (SD, +/-2.06%), and 49.88% (SD, +/-3.51%), respectively. A similar level of atrophy was also evoked by inoculation with P. multocida in the absence of pollutants (group G), giving a mean MI of 50.77% (SD, +/-2.07%). However, when P. multocida inoculation was combined with pollutant exposure (groups A, C, and E) moderate to severe turbinate atrophy occurred with mean MIs of 64.93% (SD, +/-4.64%), 59.18% (SD, +/-2.79%), and 73.30% (SD, +/-3.19%), respectively. The severity of atrophy was greatest in pigs exposed simultaneously to dust and ammonia. At the end of the exposure period, higher numbers of P. multocida bacteria were isolated from the tonsils than from the nasal membrane, per gram of tissue. The severity of turbinate atrophy in inoculated pigs was proportional to the number of P. multocida bacteria isolated from tonsils (r2 = 0.909, P < 0.05) and nasal membrane (r2 = 0.628, P < 0.05). These findings indicate that aerial pollutants contribute to the severity of lesions associated with atrophic rhinitis by facilitating colonization of the pig's upper respiratory tract by P. multocida and also by directly evoking mild atrophy.  (+info)

Quantitative assessment of gastric atrophy using the syntactic structure analysis. (7/3164)

AIM: To assess the topographical relation between gastric glands, using the minimum spanning tree (MST), to derive both a model of neighbourhood and quantitative representation of the tissue's architecture, to assess the characteristic features of gastric atrophy, and to assess the grades of gastric atrophy. METHODS: Haematoxylin and eosin stained sections from corporal and antral biopsy specimens (n = 139) from normal patients and from patients with nonatrophic gastritis and atrophic gastritis of grades 1, 2, and 3 (Sydney system) were assessed by image analysis system (Prodit 5.2) and 11 syntactic structure features were derived. These included both line and connectivity features. RESULTS: Syntactic structure analysis was correlated with the semiquantitative grading system of gastric atrophy. The study showed significant reductions in the number of points and the length of MST in both body and antrum. The standard deviation of the length of MST was significantly increased in all grades of atrophy. The connectivity to two glands was the highest and most affected by the increased grade of atrophy. The reciprocal values of the Wiener, Randic, and Balaban indices showed significant changes in the volume of gland, abnormality in the shape of glands, and changes in irregularity and branching of the glands in both types of gastric mucosa. There was a complete separation in the MST, connectivity, and index values between low grade and high grade gastric atrophy. CONCLUSIONS: (1) Gastric atrophy was characterised by loss of the gland, variation in the volume, reduction in the neighbourhood, irregularity in spacing, and abnormality in the shape of the glands. (2) Syntactic structure analysis significantly differentiated minor changes in gastric gland (low grade atrophy) from high grade atrophy of clinical significance. (3) Syntactic structure analysis is a simple, fast, and highly reproducible technique and appears a promising method for quantitative assessment of atrophy.  (+info)

Infratentorial atrophy on magnetic resonance imaging and disability in multiple sclerosis. (8/3164)

Loss of tissue volume in the central nervous system may provide an index of fixed neurological dysfunction in multiple sclerosis. Recent magnetic resonance studies have shown a modest relationship between clinical disability rating scores and transverse sectional area of the cervical spinal cord. To explore further the relationship between atrophy and disability in multiple sclerosis, we estimated the volumes of infratentorial structures from MRIs in a cross-sectional study of 41 patients, 21 with relapsing-remitting multiple sclerosis and 20 with secondary progressive multiple sclerosis. We used the Cavalieri method of modern design stereology with point counting to estimate the volume of brainstem, cerebellum and upper cervical spinal cord from three-dimensional MRIs acquired with an MPRAGE (Magnetization-prepared Rapid Acquisition Gradient Echo) sequence. The volume of the upper (C1-C3) cervical spinal cord was significantly correlated with a composite spinal cord score derived from the appropriate Functional Scale scores of the Expanded Disability Status Scale (r = -0.50, P < 0.01). The cerebellar (r = 0.49, P < 0.01) and brainstem (r = 0.34, P < 0.05) volumes correlated with the Scripp's Neurological Disability Rating Scale scores. The upper cervical cord volumes (r = -0.39, P < 0.01), but not the brainstem or cerebellar volumes, were significantly associated with disease duration. MRI-estimated structural volumes may provide a simple index of axonal and/or myelin loss, the presumed pathological substrates of irreversible impairment and disability in multiple sclerosis.  (+info)

Atrophy is a medical term that refers to the decrease in size and wasting of an organ or tissue due to the disappearance of cells, shrinkage of cells, or decreased number of cells. This process can be caused by various factors such as disuse, aging, degeneration, injury, or disease.

For example, if a muscle is immobilized for an extended period, it may undergo atrophy due to lack of use. Similarly, certain medical conditions like diabetes, cancer, and heart failure can lead to the wasting away of various tissues and organs in the body.

Atrophy can also occur as a result of natural aging processes, leading to decreased muscle mass and strength in older adults. In general, atrophy is characterized by a decrease in the volume or weight of an organ or tissue, which can have significant impacts on its function and overall health.

Muscular atrophy is a condition characterized by a decrease in the size and mass of muscles due to lack of use, disease, or injury. This occurs when there is a disruption in the balance between muscle protein synthesis and degradation, leading to a net loss of muscle proteins. There are two main types of muscular atrophy:

1. Disuse atrophy: This type of atrophy occurs when muscles are not used or are immobilized for an extended period, such as after an injury, surgery, or prolonged bed rest. In this case, the nerves that control the muscles may still be functioning properly, but the muscles themselves waste away due to lack of use.
2. Neurogenic atrophy: This type of atrophy is caused by damage to the nerves that supply the muscles, leading to muscle weakness and wasting. Conditions such as amyotrophic lateral sclerosis (ALS), spinal cord injuries, and peripheral neuropathies can cause neurogenic atrophy.

In both cases, the affected muscles may become weak, shrink in size, and lose their tone and mass. Treatment for muscular atrophy depends on the underlying cause and may include physical therapy, exercise, and medication to manage symptoms and improve muscle strength and function.

Optic atrophy is a medical term that refers to the degeneration and shrinkage (atrophy) of the optic nerve, which transmits visual information from the eye to the brain. This condition can result in various vision abnormalities, including loss of visual acuity, color vision deficiencies, and peripheral vision loss.

Optic atrophy can occur due to a variety of causes, such as:

* Traumatic injuries to the eye or optic nerve
* Glaucoma
* Optic neuritis (inflammation of the optic nerve)
* Ischemic optic neuropathy (reduced blood flow to the optic nerve)
* Compression or swelling of the optic nerve
* Hereditary or congenital conditions affecting the optic nerve
* Toxins and certain medications that can damage the optic nerve.

The diagnosis of optic atrophy typically involves a comprehensive eye examination, including visual acuity testing, refraction assessment, slit-lamp examination, and dilated funduscopic examination to evaluate the health of the optic nerve. In some cases, additional diagnostic tests such as visual field testing, optical coherence tomography (OCT), or magnetic resonance imaging (MRI) may be necessary to confirm the diagnosis and determine the underlying cause.

There is no specific treatment for optic atrophy, but addressing the underlying cause can help prevent further damage to the optic nerve. In some cases, vision rehabilitation may be recommended to help patients adapt to their visual impairment.

Spinal muscular atrophy (SMA) is a genetic disorder that affects the motor neurons in the spinal cord, leading to muscle weakness and atrophy. It is caused by a mutation in the survival motor neuron 1 (SMN1) gene, which results in a deficiency of SMN protein necessary for the survival of motor neurons.

There are several types of SMA, classified based on the age of onset and severity of symptoms. The most common type is type 1, also known as Werdnig-Hoffmann disease, which presents in infancy and is characterized by severe muscle weakness, hypotonia, and feeding difficulties. Other types include type 2 (intermediate SMA), type 3 (Kugelberg-Welander disease), and type 4 (adult-onset SMA).

The symptoms of SMA may include muscle wasting, fasciculations, weakness, hypotonia, respiratory difficulties, and mobility impairment. The diagnosis of SMA typically involves genetic testing to confirm the presence of a mutation in the SMN1 gene. Treatment options for SMA may include medications, physical therapy, assistive devices, and respiratory support.

Multiple System Atrophy (MSA) is a rare, progressive neurodegenerative disorder that affects multiple systems in the body. It is characterized by a combination of symptoms including Parkinsonism (such as stiffness, slowness of movement, and tremors), cerebellar ataxia (lack of muscle coordination), autonomic dysfunction (problems with the autonomic nervous system which controls involuntary actions like heart rate, blood pressure, sweating, and digestion), and pyramidal signs (abnormalities in the corticospinal tracts that control voluntary movements).

The disorder is caused by the degeneration of nerve cells in various parts of the brain and spinal cord, leading to a loss of function in these areas. The exact cause of MSA is unknown, but it is thought to involve a combination of genetic and environmental factors. There is currently no cure for MSA, and treatment is focused on managing symptoms and improving quality of life.

Spinal muscular atrophies (SMAs) of childhood are a group of inherited neuromuscular disorders characterized by degeneration and loss of lower motor neurons in the spinal cord, leading to progressive muscle weakness and atrophy. The severity and age of onset can vary significantly, with some forms presenting in infancy and others in later childhood or even adulthood.

The most common form of SMA is 5q autosomal recessive SMA, also known as survival motor neuron (SMN) disease, which results from mutations in the SMN1 gene. The severity of this form can range from severe (type I or Werdnig-Hoffmann disease), intermediate (type II or chronic infantile neurodegenerative disorder), to mild (type III or Kugelberg-Welander disease).

Type I SMA is the most severe form, with onset before 6 months of age and rapid progression leading to death within the first two years of life if left untreated. Type II SMA has an onset between 6 and 18 months of age, with affected children never achieving the ability to walk independently. Type III SMA has a later onset, typically after 18 months of age, and is characterized by a slower progression, allowing for the ability to walk unaided, although mobility may be lost over time.

Other forms of childhood-onset SMA include autosomal dominant distal SMA, X-linked SMA, and spinal bulbar muscular atrophy (SBMA or Kennedy's disease). These forms have distinct genetic causes and clinical presentations.

In general, SMAs are characterized by muscle weakness, hypotonia, fasciculations, tongue atrophy, and depressed or absent deep tendon reflexes. Respiratory and nutritional support is often required in more severe cases. Recent advances in gene therapy have led to the development of disease-modifying treatments for some forms of SMA.

Olivopontocerebellar atrophies (OPCA) are a group of rare, progressive neurodegenerative disorders that primarily affect the cerebellum, olive (inferior olivary nucleus), and pons in the brainstem. The condition is characterized by degeneration and atrophy of these specific areas, leading to various neurological symptoms.

The term "olivopontocerebellar atrophies" encompasses several subtypes, including:

1. Hereditary spastic paraplegia with cerebellar ataxia (SPG/ATA) - Autosomal dominant or recessive inheritance pattern.
2. Hereditary dentatorubral-pallidoluysian atrophy (DRPLA) - Autosomal dominant inheritance pattern.
3. Idiopathic OPCA - No known genetic cause, possibly related to environmental factors or spontaneous mutations.

Symptoms of olivopontocerebellar atrophies may include:

* Progressive cerebellar ataxia (gait and limb incoordination)
* Dysarthria (slurred speech)
* Oculomotor abnormalities (nystagmus, gaze palsy)
* Spasticity (stiffness and rigidity of muscles)
* Dysphagia (difficulty swallowing)
* Tremors or dystonia (involuntary muscle contractions)

Diagnosis typically involves a combination of clinical examination, neuroimaging studies (MRI), genetic testing, and exclusion of other possible causes. Currently, there is no cure for olivopontocerebellar atrophies, but supportive care can help manage symptoms and improve quality of life.

Gyrate atrophy is a rare inherited eye disorder that is characterized by progressive degeneration of the retina, which is the light-sensitive tissue at the back of the eye. It is caused by a deficiency in an enzyme called ornithine aminotransferase (OAT), which is necessary for the normal metabolism of an amino acid called ornithine.

The accumulation of ornithine in the retinal cells leads to their degeneration and the formation of well-demarcated, circular areas of atrophy (gyrates) in the retina. This can result in decreased vision, night blindness, and a progressive loss of visual field, which can ultimately lead to legal or complete blindness.

Gyrate atrophy is typically inherited as an autosomal recessive trait, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. The disorder usually becomes apparent in childhood or adolescence and can progress slowly over several decades. There is currently no cure for gyrate atrophy, but dietary restrictions and supplements may help slow its progression.

Geographic atrophy is a medical term used to describe a specific pattern of degeneration of the retinal pigment epithelium (RPE) and the underlying choroidal tissue in the eye. This condition is often associated with age-related macular degeneration (AMD), which is a leading cause of vision loss in older adults.

In geographic atrophy, there are well-defined areas of RPE and choroidal atrophy that appear as pale, irregularly shaped patches in the central part of the retina known as the macula. These patches can grow larger over time and may lead to progressive vision loss. The exact cause of geographic atrophy is not fully understood, but it is thought to be related to oxidative stress, inflammation, and other age-related changes in the eye.

Currently, there are no effective treatments for geographic atrophy, although research is ongoing to find new ways to slow or halt its progression. Regular eye exams and monitoring by an ophthalmologist are important for people with AMD or geographic atrophy to help detect any changes in their vision and manage their condition effectively.

Survival of Motor Neuron 1 (SMN1) protein is a critical component for the survival of motor neurons, which are nerve cells that control muscle movements. The SMN1 protein is produced by the Survival of Motor Neuron 1 gene, located on human chromosome 5q13.

The primary function of the SMN1 protein is to assist in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential for spliceosomes - complex molecular machines responsible for RNA processing in the cell. The absence or significant reduction of SMN1 protein leads to defective snRNP assembly, impaired RNA splicing, and ultimately results in motor neuron degeneration.

Mutations in the SMN1 gene can cause Spinal Muscular Atrophy (SMA), a genetic disorder characterized by progressive muscle weakness, atrophy, and paralysis due to the loss of lower motor neurons in the spinal cord. The severity of SMA depends on the amount of functional SMN1 protein produced, with less protein leading to more severe symptoms.

Atrophic muscular disorders are medical conditions that involve the progressive loss of muscle mass and weakness due to the degeneration of muscle tissue. This process occurs because of a decrease in the size or number of muscle fibers, which can be caused by various factors such as nerve damage, lack of use, or underlying diseases.

There are two main types of atrophic muscular disorders: neurogenic and myopathic. Neurogenic atrophy is caused by damage to the nerves that supply the muscles, leading to muscle weakness and wasting. Examples of conditions that can cause neurogenic atrophy include motor neuron disease, spinal cord injury, and peripheral neuropathy.

Myopathic atrophy, on the other hand, is caused by primary muscle diseases that affect the muscle fibers themselves. Conditions such as muscular dystrophy, metabolic myopathies, and inflammatory myopathies can all lead to myopathic atrophy.

Symptoms of atrophic muscular disorders may include muscle weakness, wasting, cramping, spasms, and difficulty with movement and coordination. Treatment for these conditions depends on the underlying cause and may involve physical therapy, medication, or surgery. In some cases, the damage to the muscles may be irreversible, and the goal of treatment is to manage symptoms and maintain function as much as possible.

Medical Definition:

Magnetic Resonance Imaging (MRI) is a non-invasive diagnostic imaging technique that uses a strong magnetic field and radio waves to create detailed cross-sectional or three-dimensional images of the internal structures of the body. The patient lies within a large, cylindrical magnet, and the scanner detects changes in the direction of the magnetic field caused by protons in the body. These changes are then converted into detailed images that help medical professionals to diagnose and monitor various medical conditions, such as tumors, injuries, or diseases affecting the brain, spinal cord, heart, blood vessels, joints, and other internal organs. MRI does not use radiation like computed tomography (CT) scans.

Autosomal dominant optic atrophy (ADOA) is a genetic disorder that affects the optic nerve, which transmits visual information from the eye to the brain. The term "optic atrophy" refers to degeneration or damage to the optic nerve. In ADOA, this condition is inherited in an autosomal dominant manner, meaning that only one copy of the mutated gene, located on one of the autosomal chromosomes (not a sex chromosome), needs to be present for the individual to develop the disorder.

The most common form of ADOA is caused by mutations in the OPA1 gene, which provides instructions for making a protein involved in the maintenance of mitochondria, the energy-producing structures in cells. The exact role of this protein in optic nerve function is not fully understood, but it is thought to play a critical role in maintaining the health and function of retinal ganglion cells, which are the neurons that make up the optic nerve.

In ADOA, mutations in the OPA1 gene lead to progressive degeneration of retinal ganglion cells and their axons (nerve fibers) within the optic nerve. This results in decreased visual acuity, color vision deficits, and a characteristic visual field defect called centrocecal scotoma, which is an area of blindness near the center of the visual field. The onset and severity of these symptoms can vary widely among individuals with ADOA.

It's important to note that medical definitions may contain complex terminology. In simpler terms, autosomal dominant optic atrophy (ADOA) is a genetic condition affecting the optic nerve, leading to decreased visual acuity and other vision problems due to degeneration of retinal ganglion cells. The disorder is inherited in an autosomal dominant manner, meaning only one copy of the mutated gene is needed for the individual to develop ADOA.

The Survival Motor Neuron (SMN) complex is a protein complex that plays a crucial role in the biogenesis of small nuclear ribonucleoproteins (snRNPs), which are essential components of the spliceosome involved in pre-messenger RNA (pre-mRNA) splicing. The SMN complex consists of several proteins, including the SMN protein itself, Gemins2-8, and unrip.

The SMN protein is the central component of the complex and is encoded by the SMN1 gene located on chromosome 5q13.2. Mutations in this gene can lead to spinal muscular atrophy (SMA), a genetic disorder characterized by degeneration of motor neurons in the spinal cord, leading to muscle weakness and atrophy.

The SMN complex assembles in the cytoplasm and facilitates the assembly of spliceosomal snRNPs by helping to load Sm proteins onto small nuclear RNA (snRNA) molecules. Proper functioning of the SMN complex is essential for the correct splicing of pre-mRNA, and its dysfunction can lead to various developmental abnormalities and diseases, including SMA.

Survival of Motor Neuron 2 (SMN2) protein is a functional copy of the Survival of Motor Neuron (SMN) protein, which is produced from the SMN2 gene. The SMN protein is crucial for the survival of motor neurons, the nerve cells that control muscle movement. In people with spinal muscular atrophy (SMA), a genetic disorder that causes progressive muscle weakness and loss of movement, there is a mutation in the main SMN1 gene that leads to reduced levels of functional SMN protein.

The SMN2 gene can also produce some functional SMN protein, but it mainly produces an unstable, truncated form of the protein due to a critical difference in its exon 7 splicing pattern. However, a small percentage (about 10-15%) of SMN2 transcripts can be correctly spliced and produce full-length, functional SMN protein. The amount of functional SMN protein produced from the SMN2 gene is directly related to the severity of SMA; more SMN protein production from SMN2 leads to less severe symptoms. Therefore, therapies aimed at increasing SMN2-derived SMN protein levels are being developed and tested for the treatment of SMA.

Hindlimb suspension is a commonly used animal model in biomedical research, particularly in the study of muscle atrophy and disuse osteoporosis. In this model, the hindlimbs of rodents (such as rats or mice) are suspended using a tape or a harness system, which elevates their limbs off the ground and prevents them from bearing weight. This state of disuse leads to significant changes in the musculoskeletal system, including muscle atrophy, bone loss, and alterations in muscle fiber type composition and architecture.

The hindlimb suspension model is often used to investigate the mechanisms underlying muscle wasting and bone loss in conditions such as spinal cord injury, bed rest, and spaceflight-induced disuse. By understanding these mechanisms, researchers can develop potential therapeutic interventions to prevent or mitigate the negative effects of disuse on the musculoskeletal system.

Skeletal muscle, also known as striated or voluntary muscle, is a type of muscle that is attached to bones by tendons or aponeuroses and functions to produce movements and support the posture of the body. It is composed of long, multinucleated fibers that are arranged in parallel bundles and are characterized by alternating light and dark bands, giving them a striped appearance under a microscope. Skeletal muscle is under voluntary control, meaning that it is consciously activated through signals from the nervous system. It is responsible for activities such as walking, running, jumping, and lifting objects.

X-linked bulbospinal neuronopathy, also known as Kennedy's disease, is a rare inherited motor neuron disorder that affects males. It is caused by a mutation in the androgen receptor (AR) gene on the X chromosome. The condition is characterized by progressive muscle weakness and atrophy, primarily affecting the bulbar muscles of the throat and tongue, as well as the limbs.

The mutation in the AR gene leads to an abnormal accumulation of the protein within nerve cells, which can ultimately result in their death. This can cause symptoms such as difficulty speaking, swallowing, and breathing, as well as muscle cramps and fasciculations (twitching). The condition typically progresses slowly over several decades.

There is no cure for X-linked bulbospinal neuronopathy, but treatments can help manage the symptoms. This may include physical therapy, speech therapy, and assistive devices to aid in breathing and swallowing.

The brain is the central organ of the nervous system, responsible for receiving and processing sensory information, regulating vital functions, and controlling behavior, movement, and cognition. It is divided into several distinct regions, each with specific functions:

1. Cerebrum: The largest part of the brain, responsible for higher cognitive functions such as thinking, learning, memory, language, and perception. It is divided into two hemispheres, each controlling the opposite side of the body.
2. Cerebellum: Located at the back of the brain, it is responsible for coordinating muscle movements, maintaining balance, and fine-tuning motor skills.
3. Brainstem: Connects the cerebrum and cerebellum to the spinal cord, controlling vital functions such as breathing, heart rate, and blood pressure. It also serves as a relay center for sensory information and motor commands between the brain and the rest of the body.
4. Diencephalon: A region that includes the thalamus (a major sensory relay station) and hypothalamus (regulates hormones, temperature, hunger, thirst, and sleep).
5. Limbic system: A group of structures involved in emotional processing, memory formation, and motivation, including the hippocampus, amygdala, and cingulate gyrus.

The brain is composed of billions of interconnected neurons that communicate through electrical and chemical signals. It is protected by the skull and surrounded by three layers of membranes called meninges, as well as cerebrospinal fluid that provides cushioning and nutrients.

Atrophic gastritis is a condition characterized by the inflammation and atrophy (wasting away) of the stomach lining, specifically the mucous membrane called the gastric mucosa. This process involves the loss of glandular cells in the stomach, which can result in decreased acid production and potential vitamin B12 deficiency due to reduced intrinsic factor production. Atrophic gastritis can be caused by various factors, including autoimmune disorders, chronic bacterial infection (usually with Helicobacter pylori), and the use of certain medications such as proton pump inhibitors. It can increase the risk of developing stomach cancer, so regular monitoring is often recommended.

SKP (S-phase kinase associated protein) Cullin F-box protein ligases, also known as SCF complexes, are a type of E3 ubiquitin ligase that play a crucial role in the ubiquitination and subsequent degradation of proteins. These complexes are composed of several subunits: SKP1, Cul1 (Cullin 1), Rbx1 (Ring-box 1), and an F-box protein. The F-box protein is a variable component that determines the substrate specificity of the SCF complex.

The ubiquitination process mediated by SCF complexes involves the sequential transfer of ubiquitin molecules to a target protein, leading to its degradation by the 26S proteasome. This pathway is essential for various cellular processes, including cell cycle regulation, signal transduction, and DNA damage response.

Dysregulation of SCF complexes has been implicated in several diseases, such as cancer and neurodegenerative disorders, making them potential targets for therapeutic intervention.

Hereditary optic atrophies (HOAs) are a group of genetic disorders that cause degeneration of the optic nerve, leading to vision loss. The optic nerve is responsible for transmitting visual information from the eye to the brain. In HOAs, this nerve degenerates over time, resulting in decreased visual acuity, color vision deficits, and sometimes visual field defects.

There are several types of HOAs, including dominant optic atrophy (DOA), Leber hereditary optic neuropathy (LHON), autosomal recessive optic atrophy (AROA), and Wolfram syndrome. Each type has a different inheritance pattern and is caused by mutations in different genes.

DOA is the most common form of HOA and is characterized by progressive vision loss that typically begins in childhood or early adulthood. It is inherited in an autosomal dominant manner, meaning that a child has a 50% chance of inheriting the disease-causing mutation from an affected parent.

LHON is a mitochondrial disorder that primarily affects males and is characterized by sudden, severe vision loss that typically occurs in young adulthood. It is caused by mutations in the mitochondrial DNA and is inherited maternally.

AROA is a rare form of HOA that is inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated to cause the disease. It typically presents in infancy or early childhood with progressive vision loss.

Wolfram syndrome is a rare genetic disorder that affects multiple organs, including the eyes, ears, and endocrine system. It is characterized by diabetes insipidus, diabetes mellitus, optic atrophy, and hearing loss. It is inherited in an autosomal recessive manner.

There is currently no cure for HOAs, but treatments such as low-vision aids and rehabilitation may help to manage the symptoms. Research is ongoing to develop new therapies for these disorders.

Cerebellar ataxia is a type of ataxia, which refers to a group of disorders that cause difficulties with coordination and movement. Cerebellar ataxia specifically involves the cerebellum, which is the part of the brain responsible for maintaining balance, coordinating muscle movements, and regulating speech and eye movements.

The symptoms of cerebellar ataxia may include:

* Unsteady gait or difficulty walking
* Poor coordination of limb movements
* Tremors or shakiness, especially in the hands
* Slurred or irregular speech
* Abnormal eye movements, such as nystagmus (rapid, involuntary movement of the eyes)
* Difficulty with fine motor tasks, such as writing or buttoning a shirt

Cerebellar ataxia can be caused by a variety of underlying conditions, including:

* Genetic disorders, such as spinocerebellar ataxia or Friedreich's ataxia
* Brain injury or trauma
* Stroke or brain hemorrhage
* Infections, such as meningitis or encephalitis
* Exposure to toxins, such as alcohol or certain medications
* Tumors or other growths in the brain

Treatment for cerebellar ataxia depends on the underlying cause. In some cases, there may be no cure, and treatment is focused on managing symptoms and improving quality of life. Physical therapy, occupational therapy, and speech therapy can help improve coordination, balance, and communication skills. Medications may also be used to treat specific symptoms, such as tremors or muscle spasticity. In some cases, surgery may be recommended to remove tumors or repair damage to the brain.

Alzheimer's disease is a progressive disorder that causes brain cells to waste away (degenerate) and die. It's the most common cause of dementia — a continuous decline in thinking, behavioral and social skills that disrupts a person's ability to function independently.

The early signs of the disease include forgetting recent events or conversations. As the disease progresses, a person with Alzheimer's disease will develop severe memory impairment and lose the ability to carry out everyday tasks.

Currently, there's no cure for Alzheimer's disease. However, treatments can temporarily slow the worsening of dementia symptoms and improve quality of life.

Uveal diseases refer to a group of medical conditions that affect the uvea, which is the middle layer of the eye located between the sclera (the white of the eye) and the retina (the light-sensitive tissue at the back of the eye). The uvea consists of the iris (the colored part of the eye), the ciliary body (which controls the lens), and the choroid (a layer of blood vessels that provides nutrients to the retina).

Uveal diseases can cause inflammation, damage, or tumors in the uvea, leading to symptoms such as eye pain, redness, light sensitivity, blurred vision, and floaters. Some common uveal diseases include uveitis (inflammation of the uvea), choroidal melanoma (a type of eye cancer that affects the choroid), and iris nevus (a benign growth on the iris). Treatment for uveal diseases depends on the specific condition and may include medications, surgery, or radiation therapy.

Organ size refers to the volume or physical measurement of an organ in the body of an individual. It can be described in terms of length, width, and height or by using specialized techniques such as imaging studies (like CT scans or MRIs) to determine the volume. The size of an organ can vary depending on factors such as age, sex, body size, and overall health status. Changes in organ size may indicate various medical conditions, including growths, inflammation, or atrophy.

Progressive Supranuclear Palsy (PSP) is a rare neurological disorder characterized by the progressive degeneration of brain cells that regulate movement, thoughts, behavior, and eye movements. The term "supranuclear" refers to the location of the damage in the brain, specifically above the level of the "nuclei" which are clusters of nerve cells that control voluntary movements.

The most common early symptom of PSP is a loss of balance and difficulty coordinating eye movements, particularly vertical gaze. Other symptoms may include stiffness or rigidity of muscles, slowness of movement, difficulty swallowing, changes in speech and writing, and cognitive decline leading to dementia.

PSP typically affects people over the age of 60, and its progression can vary from person to person. Currently, there is no cure for PSP, and treatment is focused on managing symptoms and maintaining quality of life.

Muscle proteins are a type of protein that are found in muscle tissue and are responsible for providing structure, strength, and functionality to muscles. The two major types of muscle proteins are:

1. Contractile proteins: These include actin and myosin, which are responsible for the contraction and relaxation of muscles. They work together to cause muscle movement by sliding along each other and shortening the muscle fibers.
2. Structural proteins: These include titin, nebulin, and desmin, which provide structural support and stability to muscle fibers. Titin is the largest protein in the human body and acts as a molecular spring that helps maintain the integrity of the sarcomere (the basic unit of muscle contraction). Nebulin helps regulate the length of the sarcomere, while desmin forms a network of filaments that connects adjacent muscle fibers together.

Overall, muscle proteins play a critical role in maintaining muscle health and function, and their dysregulation can lead to various muscle-related disorders such as muscular dystrophy, myopathies, and sarcopenia.

Facial hemiatrophy, also known as Parry-Romberg syndrome, is a rare progressive condition characterized by the partial or complete atrophy (wasting) of the tissue on one side of the face. The atrophy typically involves the skin, fat, and muscle, but can also affect the bone and nerves.

The cause of facial hemiatrophy is not well understood, but it is believed to be a result of abnormalities in the blood vessels or nerves that supply the affected side of the face. The condition often begins in childhood or adolescence and can progress slowly over a period of several years.

In addition to the physical changes, people with facial hemiatrophy may also experience symptoms such as headaches, seizures, and eye problems. There is no cure for the condition, but various treatments such as cosmetic surgery, fillers, and muscle transfers can help improve the appearance of the affected side of the face.

Ornithine-oxo-acid transaminase (OAT), also known as ornithine aminotransferase, is a urea cycle enzyme that catalyzes the reversible transfer of an amino group from ornithine to α-ketoglutarate, producing glutamate semialdehyde and glutamate. This reaction is an essential part of the urea cycle, which is responsible for the detoxification of ammonia in the body. Deficiencies in OAT can lead to a genetic disorder called ornithine transcarbamylase deficiency (OTCD), which can cause hyperammonemia and neurological symptoms.

Shy-Drager syndrome (SDS) is a rare and progressive neurodegenerative disorder that affects the autonomic nervous system (ANS). The ANS controls involuntary bodily functions such as heart rate, blood pressure, sweating, digestion, and pupil dilation. SDS is also known as multiple system atrophy with orthostatic hypotension or Bradbury-Eggleston syndrome.

SDS is characterized by a combination of symptoms related to the dysfunction of the autonomic nervous system, including:

1. Orthostatic hypotension (a sudden drop in blood pressure upon standing)
2. Autonomic failure (manifesting as erectile dysfunction, urinary retention or incontinence, and gastrointestinal disturbances)
3. Parkinsonian features (tremors, rigidity, bradykinesia, and postural instability)
4. Respiratory abnormalities (breathing difficulties, especially during sleep)
5. Ocular symptoms (abnormal pupil dilation and convergence insufficiency)
6. Smooth muscle atrophy (leading to reduced bladder capacity and gastrointestinal motility issues)

The underlying cause of Shy-Drager syndrome is the degeneration of nerve cells in specific areas of the brain, particularly within the autonomic nervous system centers. The exact etiology remains unclear; however, it is believed to involve a combination of genetic and environmental factors. There is no known cure for SDS, and treatment primarily focuses on managing symptoms and improving quality of life.

Muscle denervation is a medical term that refers to the loss of nerve supply to a muscle or group of muscles. This can occur due to various reasons, such as injury to the nerves, nerve compression, or certain medical conditions like neuromuscular disorders. When the nerve supply to the muscle is interrupted, it can lead to muscle weakness, atrophy (wasting), and ultimately, paralysis.

In denervation, the communication between the nervous system and the muscle is disrupted, which means that the muscle no longer receives signals from the brain to contract and move. Over time, this can result in significant muscle wasting and disability, depending on the severity and extent of the denervation.

Denervation may be treated with various therapies, including physical therapy, medication, or surgical intervention, such as nerve grafting or muscle transfers, to restore function and prevent further muscle wasting. The specific treatment approach will depend on the underlying cause and severity of the denervation.

Skeletal muscle fibers, also known as striated muscle fibers, are the type of muscle cells that make up skeletal muscles, which are responsible for voluntary movements of the body. These muscle fibers are long, cylindrical, and multinucleated, meaning they contain multiple nuclei. They are surrounded by a connective tissue layer called the endomysium, and many fibers are bundled together into fascicles, which are then surrounded by another layer of connective tissue called the perimysium.

Skeletal muscle fibers are composed of myofibrils, which are long, thread-like structures that run the length of the fiber. Myofibrils contain repeating units called sarcomeres, which are responsible for the striated appearance of skeletal muscle fibers. Sarcomeres are composed of thick and thin filaments, which slide past each other during muscle contraction to shorten the sarcomere and generate force.

Skeletal muscle fibers can be further classified into two main types based on their contractile properties: slow-twitch (type I) and fast-twitch (type II). Slow-twitch fibers have a high endurance capacity and are used for sustained, low-intensity activities such as maintaining posture. Fast-twitch fibers, on the other hand, have a higher contractile speed and force generation capacity but fatigue more quickly and are used for powerful, explosive movements.

Cognitive disorders are a category of mental health disorders that primarily affect cognitive abilities including learning, memory, perception, and problem-solving. These disorders can be caused by various factors such as brain injury, degenerative diseases, infection, substance abuse, or developmental disabilities. Examples of cognitive disorders include dementia, amnesia, delirium, and intellectual disability. It's important to note that the specific definition and diagnostic criteria for cognitive disorders may vary depending on the medical source or classification system being used.

Animal disease models are specialized animals, typically rodents such as mice or rats, that have been genetically engineered or exposed to certain conditions to develop symptoms and physiological changes similar to those seen in human diseases. These models are used in medical research to study the pathophysiology of diseases, identify potential therapeutic targets, test drug efficacy and safety, and understand disease mechanisms.

The genetic modifications can include knockout or knock-in mutations, transgenic expression of specific genes, or RNA interference techniques. The animals may also be exposed to environmental factors such as chemicals, radiation, or infectious agents to induce the disease state.

Examples of animal disease models include:

1. Mouse models of cancer: Genetically engineered mice that develop various types of tumors, allowing researchers to study cancer initiation, progression, and metastasis.
2. Alzheimer's disease models: Transgenic mice expressing mutant human genes associated with Alzheimer's disease, which exhibit amyloid plaque formation and cognitive decline.
3. Diabetes models: Obese and diabetic mouse strains like the NOD (non-obese diabetic) or db/db mice, used to study the development of type 1 and type 2 diabetes, respectively.
4. Cardiovascular disease models: Atherosclerosis-prone mice, such as ApoE-deficient or LDLR-deficient mice, that develop plaque buildup in their arteries when fed a high-fat diet.
5. Inflammatory bowel disease models: Mice with genetic mutations affecting intestinal barrier function and immune response, such as IL-10 knockout or SAMP1/YitFc mice, which develop colitis.

Animal disease models are essential tools in preclinical research, but it is important to recognize their limitations. Differences between species can affect the translatability of results from animal studies to human patients. Therefore, researchers must carefully consider the choice of model and interpret findings cautiously when applying them to human diseases.

Spinocerebellar degenerations (SCDs) are a group of genetic disorders that primarily affect the cerebellum, the part of the brain responsible for coordinating muscle movements, and the spinal cord. These conditions are characterized by progressive degeneration or loss of nerve cells in the cerebellum and/or spinal cord, leading to various neurological symptoms.

SCDs are often inherited in an autosomal dominant manner, meaning that only one copy of the altered gene from either parent is enough to cause the disorder. The most common type of SCD is spinocerebellar ataxia (SCA), which includes several subtypes (SCA1, SCA2, SCA3, etc.) differentiated by their genetic causes and specific clinical features.

Symptoms of spinocerebellar degenerations may include:

1. Progressive ataxia (loss of coordination and balance)
2. Dysarthria (speech difficulty)
3. Nystagmus (involuntary eye movements)
4. Oculomotor abnormalities (problems with eye movement control)
5. Tremors or other involuntary muscle movements
6. Muscle weakness and spasticity
7. Sensory disturbances, such as numbness or tingling sensations
8. Dysphagia (difficulty swallowing)
9. Cognitive impairment in some cases

The age of onset, severity, and progression of symptoms can vary significantly among different SCD subtypes and individuals. Currently, there is no cure for spinocerebellar degenerations, but various supportive treatments and therapies can help manage symptoms and improve quality of life.

Disease progression is the worsening or advancement of a medical condition over time. It refers to the natural course of a disease, including its development, the severity of symptoms and complications, and the impact on the patient's overall health and quality of life. Understanding disease progression is important for developing appropriate treatment plans, monitoring response to therapy, and predicting outcomes.

The rate of disease progression can vary widely depending on the type of medical condition, individual patient factors, and the effectiveness of treatment. Some diseases may progress rapidly over a short period of time, while others may progress more slowly over many years. In some cases, disease progression may be slowed or even halted with appropriate medical interventions, while in other cases, the progression may be inevitable and irreversible.

In clinical practice, healthcare providers closely monitor disease progression through regular assessments, imaging studies, and laboratory tests. This information is used to guide treatment decisions and adjust care plans as needed to optimize patient outcomes and improve quality of life.

The temporal lobe is one of the four main lobes of the cerebral cortex in the brain, located on each side of the head roughly level with the ears. It plays a major role in auditory processing, memory, and emotion. The temporal lobe contains several key structures including the primary auditory cortex, which is responsible for analyzing sounds, and the hippocampus, which is crucial for forming new memories. Damage to the temporal lobe can result in various neurological symptoms such as hearing loss, memory impairment, and changes in emotional behavior.

NAIP (Neuronal Apoptosis Inhibitory Protein) is a protein involved in inhibiting programmed cell death, also known as apoptosis. It is a member of the inhibitor of apoptosis (IAP) family and is primarily expressed in neurons. NAIP plays a crucial role in preventing excessive cell death during nervous system development and after nerve injury. It functions by binding to and inhibiting certain caspases, which are enzymes that play an essential role in initiating and executing apoptosis. Mutations in the gene encoding NAIP have been associated with neurodegenerative disorders such as spinal muscular atrophy and amyotrophic lateral sclerosis (ALS).

Pepsinogen A is the inactive precursor form of the enzyme pepsin, which is produced in the stomach chief cells. Once exposed to acidic environment in the stomach, pepsinogen A is converted into its active form, pepsin. Pepsin plays a crucial role in digestion by breaking down proteins into smaller peptides. An elevated level of pepsinogen A in the blood may indicate damage to the stomach lining, such as that seen in gastritis or gastric cancer.

Progressive Myoclonic Epilepsies (PME) is a group of rare, genetic disorders characterized by myoclonus (rapid, involuntary muscle jerks), tonic-clonic seizures (also known as grand mal seizures), and progressive neurological deterioration. The term "progressive" refers to the worsening of symptoms over time.

The myoclonic epilepsies are classified as progressive due to the underlying neurodegenerative process that affects the brain, leading to a decline in cognitive abilities, motor skills, and overall functioning. These disorders usually begin in childhood or adolescence and tend to worsen with age.

Examples of PMEs include:

1. Lafora disease: A genetic disorder caused by mutations in the EPM2A or NHLRC1 genes, leading to the accumulation of abnormal protein aggregates called Lafora bodies in neurons. Symptoms typically start between ages 6 and 16 and include myoclonus, seizures, and progressive neurological decline.
2. Unverricht-Lundborg disease: Also known as Baltic myoclonus, this is an autosomal recessive disorder caused by mutations in the CSTB gene. It is characterized by progressive myoclonic epilepsy, ataxia (loss of coordination), and cognitive decline. Symptoms usually begin between ages 6 and 18.
3. Neuronal Ceroid Lipofuscinoses (NCLs): A group of inherited neurodegenerative disorders characterized by the accumulation of lipopigments in neurons. Several types of NCLs can present with progressive myoclonic epilepsy, including CLN2 (late-infantile NCL), CLN3 (juvenile NCL), and CLN6 (early juvenile NCL).
4. Myoclonus Epilepsy Associated with Ragged Red Fibers (MERRF): A mitochondrial disorder caused by mutations in the MT-TK gene, leading to myoclonic epilepsy, ataxia, and ragged red fibers on muscle biopsy.
5. Dentatorubral-Pallidoluysian Atrophy (DRPLA): An autosomal dominant disorder caused by mutations in the ATN1 gene, characterized by myoclonic epilepsy, ataxia, chorea (involuntary movements), and dementia.

These are just a few examples of disorders that can present with progressive myoclonic epilepsy. It is essential to consult a neurologist or epileptologist for proper diagnosis and management.

Dementia is a broad term that describes a decline in cognitive functioning, including memory, language, problem-solving, and judgment, severe enough to interfere with daily life. It is not a specific disease but rather a group of symptoms that may be caused by various underlying diseases or conditions. Alzheimer's disease is the most common cause of dementia, accounting for 60-80% of cases. Other causes include vascular dementia, Lewy body dementia, frontotemporal dementia, and Huntington's disease.

The symptoms of dementia can vary widely depending on the cause and the specific areas of the brain that are affected. However, common early signs of dementia may include:

* Memory loss that affects daily life
* Difficulty with familiar tasks
* Problems with language or communication
* Difficulty with visual and spatial abilities
* Misplacing things and unable to retrace steps
* Decreased or poor judgment
* Withdrawal from work or social activities
* Changes in mood or behavior

Dementia is a progressive condition, meaning that symptoms will gradually worsen over time. While there is currently no cure for dementia, early diagnosis and treatment can help slow the progression of the disease and improve quality of life for those affected.

Immobilization is a medical term that refers to the restriction of normal mobility or motion of a body part, usually to promote healing and prevent further injury. This is often achieved through the use of devices such as casts, splints, braces, slings, or traction. The goal of immobilization is to keep the injured area in a fixed position so that it can heal properly without additional damage. It may be used for various medical conditions, including fractures, dislocations, sprains, strains, and soft tissue injuries. Immobilization helps reduce pain, minimize swelling, and protect the injured site from movement that could worsen the injury or impair healing.

Aging is a complex, progressive and inevitable process of bodily changes over time, characterized by the accumulation of cellular damage and degenerative changes that eventually lead to increased vulnerability to disease and death. It involves various biological, genetic, environmental, and lifestyle factors that contribute to the decline in physical and mental functions. The medical field studies aging through the discipline of gerontology, which aims to understand the underlying mechanisms of aging and develop interventions to promote healthy aging and extend the human healthspan.

Brain diseases, also known as neurological disorders, refer to a wide range of conditions that affect the brain and nervous system. These diseases can be caused by various factors such as genetics, infections, injuries, degeneration, or structural abnormalities. They can affect different parts of the brain, leading to a variety of symptoms and complications.

Some examples of brain diseases include:

1. Alzheimer's disease - a progressive degenerative disorder that affects memory and cognitive function.
2. Parkinson's disease - a movement disorder characterized by tremors, stiffness, and difficulty with coordination and balance.
3. Multiple sclerosis - a chronic autoimmune disease that affects the nervous system and can cause a range of symptoms such as vision loss, muscle weakness, and cognitive impairment.
4. Epilepsy - a neurological disorder characterized by recurrent seizures.
5. Brain tumors - abnormal growths in the brain that can be benign or malignant.
6. Stroke - a sudden interruption of blood flow to the brain, which can cause paralysis, speech difficulties, and other neurological symptoms.
7. Meningitis - an infection of the membranes surrounding the brain and spinal cord.
8. Encephalitis - an inflammation of the brain that can be caused by viruses, bacteria, or autoimmune disorders.
9. Huntington's disease - a genetic disorder that affects muscle coordination, cognitive function, and mental health.
10. Migraine - a neurological condition characterized by severe headaches, often accompanied by nausea, vomiting, and sensitivity to light and sound.

Brain diseases can range from mild to severe and may be treatable or incurable. They can affect people of all ages and backgrounds, and early diagnosis and treatment are essential for improving outcomes and quality of life.

Macular degeneration, also known as age-related macular degeneration (AMD), is a medical condition that affects the central part of the retina, called the macula. The macula is responsible for sharp, detailed vision, which is necessary for activities such as reading, driving, and recognizing faces.

In AMD, there is a breakdown or deterioration of the macula, leading to gradual loss of central vision. There are two main types of AMD: dry (atrophic) and wet (exudative). Dry AMD is more common and progresses more slowly, while wet AMD is less common but can cause rapid and severe vision loss if left untreated.

The exact causes of AMD are not fully understood, but risk factors include age, smoking, family history, high blood pressure, obesity, and exposure to sunlight. While there is no cure for AMD, treatments such as vitamin supplements, laser therapy, and medication injections can help slow its progression and reduce the risk of vision loss.

Motor neurons are specialized nerve cells in the brain and spinal cord that play a crucial role in controlling voluntary muscle movements. They transmit electrical signals from the brain to the muscles, enabling us to perform actions such as walking, talking, and swallowing. There are two types of motor neurons: upper motor neurons, which originate in the brain's motor cortex and travel down to the brainstem and spinal cord; and lower motor neurons, which extend from the brainstem and spinal cord to the muscles. Damage or degeneration of these motor neurons can lead to various neurological disorders, such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA).

"Fundus Oculi" is a medical term that refers to the back part of the interior of the eye, including the optic disc, macula, fovea, retinal vasculature, and peripheral retina. It is the area where light is focused and then transmitted to the brain via the optic nerve, forming visual images. Examinations of the fundus oculi are crucial for detecting various eye conditions such as diabetic retinopathy, macular degeneration, glaucoma, and other retinal diseases. The examination is typically performed using an ophthalmoscope or a specialized camera called a retinal camera.

Myostatin is a protein that is primarily known for its role in regulating muscle growth. It's also called "growth differentiation factor 8" or GDF-8. Produced by muscle cells, myostatin inhibits the process of muscle growth by preventing the transformation of stem cells into muscle fibers and promoting the breakdown of existing muscle proteins.

In essence, myostatin acts as a negative regulator of muscle mass, keeping it in check to prevent excessive growth. Mutations leading to reduced myostatin activity or expression have been associated with increased muscle mass and strength in both animals and humans, making it a potential target for therapeutic interventions in muscle-wasting conditions such as muscular dystrophy and age-related sarcopenia.

Computer-assisted image processing is a medical term that refers to the use of computer systems and specialized software to improve, analyze, and interpret medical images obtained through various imaging techniques such as X-ray, CT (computed tomography), MRI (magnetic resonance imaging), ultrasound, and others.

The process typically involves several steps, including image acquisition, enhancement, segmentation, restoration, and analysis. Image processing algorithms can be used to enhance the quality of medical images by adjusting contrast, brightness, and sharpness, as well as removing noise and artifacts that may interfere with accurate diagnosis. Segmentation techniques can be used to isolate specific regions or structures of interest within an image, allowing for more detailed analysis.

Computer-assisted image processing has numerous applications in medical imaging, including detection and characterization of lesions, tumors, and other abnormalities; assessment of organ function and morphology; and guidance of interventional procedures such as biopsies and surgeries. By automating and standardizing image analysis tasks, computer-assisted image processing can help to improve diagnostic accuracy, efficiency, and consistency, while reducing the potential for human error.

Cerebellar diseases refer to a group of medical conditions that affect the cerebellum, which is the part of the brain located at the back of the head, below the occipital lobe and above the brainstem. The cerebellum plays a crucial role in motor control, coordination, balance, and some cognitive functions.

Cerebellar diseases can be caused by various factors, including genetics, infections, tumors, stroke, trauma, or degenerative processes. These conditions can result in a wide range of symptoms, such as:

1. Ataxia: Loss of coordination and unsteady gait
2. Dysmetria: Inability to judge distance and force while performing movements
3. Intention tremors: Shaking or trembling that worsens during purposeful movements
4. Nystagmus: Rapid, involuntary eye movement
5. Dysarthria: Speech difficulty due to muscle weakness or incoordination
6. Hypotonia: Decreased muscle tone
7. Titubation: Rhythmic, involuntary oscillations of the head and neck
8. Cognitive impairment: Problems with memory, attention, and executive functions

Some examples of cerebellar diseases include:

1. Ataxia-telangiectasia
2. Friedrich's ataxia
3. Multiple system atrophy (MSA)
4. Spinocerebellar ataxias (SCAs)
5. Cerebellar tumors, such as medulloblastomas or astrocytomas
6. Infarctions or hemorrhages in the cerebellum due to stroke or trauma
7. Infections, such as viral encephalitis or bacterial meningitis
8. Autoimmune disorders, like multiple sclerosis (MS) or paraneoplastic syndromes
9. Metabolic disorders, such as Wilson's disease or phenylketonuria (PKU)
10. Chronic alcoholism and withdrawal

Treatment for cerebellar diseases depends on the underlying cause and may involve medications, physical therapy, surgery, or supportive care to manage symptoms and improve quality of life.

The hippocampus is a complex, curved formation in the brain that resembles a seahorse (hence its name, from the Greek word "hippos" meaning horse and "kampos" meaning sea monster). It's part of the limbic system and plays crucial roles in the formation of memories, particularly long-term ones.

This region is involved in spatial navigation and cognitive maps, allowing us to recognize locations and remember how to get to them. Additionally, it's one of the first areas affected by Alzheimer's disease, which often results in memory loss as an early symptom.

Anatomically, it consists of two main parts: the Ammon's horn (or cornu ammonis) and the dentate gyrus. These structures are made up of distinct types of neurons that contribute to different aspects of learning and memory.

Nerve tissue proteins are specialized proteins found in the nervous system that provide structural and functional support to nerve cells, also known as neurons. These proteins include:

1. Neurofilaments: These are type IV intermediate filaments that provide structural support to neurons and help maintain their shape and size. They are composed of three subunits - NFL (light), NFM (medium), and NFH (heavy).

2. Neuronal Cytoskeletal Proteins: These include tubulins, actins, and spectrins that provide structural support to the neuronal cytoskeleton and help maintain its integrity.

3. Neurotransmitter Receptors: These are specialized proteins located on the postsynaptic membrane of neurons that bind neurotransmitters released by presynaptic neurons, triggering a response in the target cell.

4. Ion Channels: These are transmembrane proteins that regulate the flow of ions across the neuronal membrane and play a crucial role in generating and transmitting electrical signals in neurons.

5. Signaling Proteins: These include enzymes, receptors, and adaptor proteins that mediate intracellular signaling pathways involved in neuronal development, differentiation, survival, and death.

6. Adhesion Proteins: These are cell surface proteins that mediate cell-cell and cell-matrix interactions, playing a crucial role in the formation and maintenance of neural circuits.

7. Extracellular Matrix Proteins: These include proteoglycans, laminins, and collagens that provide structural support to nerve tissue and regulate neuronal migration, differentiation, and survival.

I must clarify that the term "pedigree" is not typically used in medical definitions. Instead, it is often employed in genetics and breeding, where it refers to the recorded ancestry of an individual or a family, tracing the inheritance of specific traits or diseases. In human genetics, a pedigree can help illustrate the pattern of genetic inheritance in families over multiple generations. However, it is not a medical term with a specific clinical definition.

CREB (Cyclic AMP Response Element-Binding Protein) is a transcription factor that plays a crucial role in regulating gene expression in response to various cellular signals. CREB binds to the cAMP response element (CRE) sequence in the promoter region of target genes and regulates their transcription.

When activated, CREB undergoes phosphorylation at a specific serine residue (Ser-133), which leads to its binding to the coactivator protein CBP/p300 and recruitment of additional transcriptional machinery to the promoter region. This results in the activation of target gene transcription.

CREB is involved in various cellular processes, including metabolism, differentiation, survival, and memory formation. Dysregulation of CREB has been implicated in several diseases, such as cancer, neurodegenerative disorders, and mood disorders.

Anterior horn cells, also known as motor neurons, are a type of nerve cell located in the anterior (ventral) horn of the spinal cord's gray matter. These cells play a crucial role in initiating and regulating voluntary muscle movement by transmitting signals from the brain to the muscles via the peripheral nervous system.

Damage or degeneration of the anterior horn cells can result in various neuromuscular disorders, such as spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS). These conditions can lead to muscle weakness, atrophy, and paralysis.

Fluorescein angiography is a medical diagnostic procedure used in ophthalmology to examine the blood flow in the retina and choroid, which are the inner layers of the eye. This test involves injecting a fluorescent dye, Fluorescein, into a patient's arm vein. As the dye reaches the blood vessels in the eye, a specialized camera takes rapid sequences of photographs to capture the dye's circulation through the retina and choroid.

The images produced by fluorescein angiography can help doctors identify any damage to the blood vessels, leakage, or abnormal growth of new blood vessels. This information is crucial in diagnosing and managing various eye conditions such as age-related macular degeneration, diabetic retinopathy, retinal vein occlusions, and inflammatory eye diseases.

It's important to note that while fluorescein angiography is a valuable diagnostic tool, it does carry some risks, including temporary side effects like nausea, vomiting, or allergic reactions to the dye. In rare cases, severe adverse reactions can occur, so patients should discuss these potential risks with their healthcare provider before undergoing the procedure.

Celiac disease is a genetic autoimmune disorder in which the consumption of gluten, a protein found in wheat, barley, and rye, leads to damage in the small intestine. In people with celiac disease, their immune system reacts to gluten by attacking the lining of the small intestine, leading to inflammation and destruction of the villi - finger-like projections that help absorb nutrients from food.

This damage can result in various symptoms such as diarrhea, bloating, fatigue, anemia, and malnutrition. Over time, if left untreated, celiac disease can lead to serious health complications, including osteoporosis, infertility, neurological disorders, and even certain types of cancer.

The only treatment for celiac disease is a strict gluten-free diet, which involves avoiding all foods, beverages, and products that contain gluten. With proper management, individuals with celiac disease can lead healthy lives and prevent further intestinal damage and related health complications.

Pepsinogen C is not typically referred to as a medical term. However, pepsinogens are proenzymes, or inactive forms, of the enzyme pepsin, which plays a crucial role in digesting proteins in the stomach. Pepsinogen C is one of the three types of pepsinogens (A, C, and F) found in the gastric mucosa.

Pepsinogen C is produced mainly by the chief cells in the fundic region of the stomach. Its primary function is to protect the gastric mucosa from self-digestion by remaining in an inactive state until it is converted into pepsin upon exposure to hydrochloric acid in the stomach.

While pepsinogen C has been studied in relation to gastric diseases, such as atrophic gastritis and gastric cancer, it is not commonly used as a clinical marker or diagnostic tool compared to pepsinogen I and pepsinogen II.

Nerve degeneration, also known as neurodegeneration, is the progressive loss of structure and function of neurons, which can lead to cognitive decline, motor impairment, and various other symptoms. This process occurs due to a variety of factors, including genetics, environmental influences, and aging. It is a key feature in several neurological disorders such as Alzheimer's disease, Parkinson's disease, Huntington's disease, and multiple sclerosis. The degeneration can affect any part of the nervous system, leading to different symptoms depending on the location and extent of the damage.

Neurodegenerative diseases are a group of disorders characterized by progressive and persistent loss of neuronal structure and function, often leading to cognitive decline, functional impairment, and ultimately death. These conditions are associated with the accumulation of abnormal protein aggregates, mitochondrial dysfunction, oxidative stress, chronic inflammation, and genetic mutations in the brain. Examples of neurodegenerative diseases include Alzheimer's disease, Parkinson's disease, Huntington's disease, Amyotrophic Lateral Sclerosis (ALS), and Spinal Muscular Atrophy (SMA). The underlying causes and mechanisms of these diseases are not fully understood, and there is currently no cure for most neurodegenerative disorders. Treatment typically focuses on managing symptoms and slowing disease progression.

Frontotemporal dementia (FTD) is a group of disorders caused by progressive degeneration of the frontal and temporal lobes of the brain. These areas of the brain are associated with personality, behavior, and language.

There are three main types of FTD:

1. Behavioral variant FTD (bvFTD): This type is characterized by changes in personality, behavior, and judgment. Individuals may become socially inappropriate, emotionally indifferent, or impulsive. They may lose interest in things they used to enjoy and have difficulty with tasks that require planning and organization.

2. Primary progressive aphasia (PPA): This type affects language abilities. There are two main subtypes of PPA: semantic dementia and progressive nonfluent aphasia. Semantic dementia is characterized by difficulty understanding words and objects, while progressive nonfluent aphasia is characterized by problems with speech production and articulation.

3. Motor neuron disease (MND) associated FTD: Some individuals with FTD may also develop motor neuron disease, which affects the nerves that control muscle movement. This can lead to weakness, stiffness, and wasting of muscles, as well as difficulty swallowing and speaking.

FTD is a degenerative disorder, meaning that symptoms get worse over time. There is no cure for FTD, but there are treatments available to help manage symptoms and improve quality of life. The exact cause of FTD is not known, but it is believed to be related to abnormalities in certain proteins in the brain. In some cases, FTD may run in families and be caused by genetic mutations.

The cerebral cortex is the outermost layer of the brain, characterized by its intricate folded structure and wrinkled appearance. It is a region of great importance as it plays a key role in higher cognitive functions such as perception, consciousness, thought, memory, language, and attention. The cerebral cortex is divided into two hemispheres, each containing four lobes: the frontal, parietal, temporal, and occipital lobes. These areas are responsible for different functions, with some regions specializing in sensory processing while others are involved in motor control or associative functions. The cerebral cortex is composed of gray matter, which contains neuronal cell bodies, and is covered by a layer of white matter that consists mainly of myelinated nerve fibers.

The choroid is a layer of the eye that contains blood vessels that supply oxygen and nutrients to the outer layers of the retina. It lies between the sclera (the white, protective coat of the eye) and the retina (the light-sensitive tissue at the back of the eye). The choroid is essential for maintaining the health and function of the retina, particularly the photoreceptor cells that detect light and transmit visual signals to the brain. Damage to the choroid can lead to vision loss or impairment.

A biopsy is a medical procedure in which a small sample of tissue is taken from the body to be examined under a microscope for the presence of disease. This can help doctors diagnose and monitor various medical conditions, such as cancer, infections, or autoimmune disorders. The type of biopsy performed will depend on the location and nature of the suspected condition. Some common types of biopsies include:

1. Incisional biopsy: In this procedure, a surgeon removes a piece of tissue from an abnormal area using a scalpel or other surgical instrument. This type of biopsy is often used when the lesion is too large to be removed entirely during the initial biopsy.

2. Excisional biopsy: An excisional biopsy involves removing the entire abnormal area, along with a margin of healthy tissue surrounding it. This technique is typically employed for smaller lesions or when cancer is suspected.

3. Needle biopsy: A needle biopsy uses a thin, hollow needle to extract cells or fluid from the body. There are two main types of needle biopsies: fine-needle aspiration (FNA) and core needle biopsy. FNA extracts loose cells, while a core needle biopsy removes a small piece of tissue.

4. Punch biopsy: In a punch biopsy, a round, sharp tool is used to remove a small cylindrical sample of skin tissue. This type of biopsy is often used for evaluating rashes or other skin abnormalities.

5. Shave biopsy: During a shave biopsy, a thin slice of tissue is removed from the surface of the skin using a sharp razor-like instrument. This technique is typically used for superficial lesions or growths on the skin.

After the biopsy sample has been collected, it is sent to a laboratory where a pathologist will examine the tissue under a microscope and provide a diagnosis based on their findings. The results of the biopsy can help guide further treatment decisions and determine the best course of action for managing the patient's condition.

Muscle weakness is a condition in which muscles cannot develop the expected level of physical force or power. This results in reduced muscle function and can be caused by various factors, including nerve damage, muscle diseases, or hormonal imbalances. Muscle weakness may manifest as difficulty lifting objects, maintaining posture, or performing daily activities. It is essential to consult a healthcare professional for proper diagnosis and treatment of muscle weakness.

The cerebellum is a part of the brain that lies behind the brainstem and is involved in the regulation of motor movements, balance, and coordination. It contains two hemispheres and a central portion called the vermis. The cerebellum receives input from sensory systems and other areas of the brain and spinal cord and sends output to motor areas of the brain. Damage to the cerebellum can result in problems with movement, balance, and coordination.

Mild Cognitive Impairment (MCI) is a medical term used to describe a stage between the cognitive changes seen in normal aging and the more serious decline of dementia. It's characterized by a slight but noticeable decline in cognitive abilities, such as memory or thinking skills, that are greater than expected for an individual's age and education level, but not significant enough to interfere with daily life.

People with MCI have an increased risk of developing dementia, particularly Alzheimer's disease, compared to those without MCI. However, it's important to note that not everyone with MCI will develop dementia; some may remain stable, and others may even improve over time.

The diagnosis of MCI is typically made through a comprehensive medical evaluation, including a detailed medical history, cognitive testing, and sometimes brain imaging or laboratory tests.

Motor Neuron Disease (MND) is a progressive neurodegenerative disorder that affects the motor neurons, which are nerve cells in the brain and spinal cord responsible for controlling voluntary muscles involved in movement, speaking, breathing, and swallowing. As the motor neurons degenerate and die, they stop sending signals to the muscles, causing them to weaken, waste away (atrophy), and eventually lead to paralysis.

There are several types of MND, including:

1. Amyotrophic Lateral Sclerosis (ALS): Also known as Lou Gehrig's disease, this is the most common form of MND. It affects both upper and lower motor neurons, causing muscle weakness, stiffness, twitching, and atrophy throughout the body.
2. Progressive Bulbar Palsy (PBP): This type primarily affects the bulbar muscles in the brainstem, which control speech, swallowing, and chewing. Patients with PBP experience difficulties with speaking, slurred speech, and problems swallowing and may also have weak facial muscles and limb weakness.
3. Primary Lateral Sclerosis (PLS): This form of MND affects only the upper motor neurons, causing muscle stiffness, spasticity, and weakness, primarily in the legs. PLS progresses more slowly than ALS, and patients usually maintain their ability to speak and swallow for a longer period.
4. Progressive Muscular Atrophy (PMA): This type of MND affects only the lower motor neurons, causing muscle wasting, weakness, and fasciculations (muscle twitches). PMA progresses more slowly than ALS but can still be severely disabling over time.
5. Spinal Muscular Atrophy (SMA): This is a genetic form of MND that typically presents in infancy or childhood, although adult-onset forms exist. SMA affects the lower motor neurons in the spinal cord, causing muscle weakness and atrophy, primarily in the legs and trunk.

The exact cause of Motor Neuron Disease is not fully understood, but it is believed to involve a combination of genetic, environmental, and lifestyle factors. There is currently no cure for MND, and treatment focuses on managing symptoms, maintaining quality of life, and slowing disease progression through various therapies and medications.

Transgenic mice are genetically modified rodents that have incorporated foreign DNA (exogenous DNA) into their own genome. This is typically done through the use of recombinant DNA technology, where a specific gene or genetic sequence of interest is isolated and then introduced into the mouse embryo. The resulting transgenic mice can then express the protein encoded by the foreign gene, allowing researchers to study its function in a living organism.

The process of creating transgenic mice usually involves microinjecting the exogenous DNA into the pronucleus of a fertilized egg, which is then implanted into a surrogate mother. The offspring that result from this procedure are screened for the presence of the foreign DNA, and those that carry the desired genetic modification are used to establish a transgenic mouse line.

Transgenic mice have been widely used in biomedical research to model human diseases, study gene function, and test new therapies. They provide a valuable tool for understanding complex biological processes and developing new treatments for a variety of medical conditions.

The cerebral ventricles are a system of interconnected fluid-filled cavities within the brain. They are located in the center of the brain and are filled with cerebrospinal fluid (CSF), which provides protection to the brain by cushioning it from impacts and helping to maintain its stability within the skull.

There are four ventricles in total: two lateral ventricles, one third ventricle, and one fourth ventricle. The lateral ventricles are located in each cerebral hemisphere, while the third ventricle is located between the thalami of the two hemispheres. The fourth ventricle is located at the base of the brain, above the spinal cord.

CSF flows from the lateral ventricles into the third ventricle through narrow passageways called the interventricular foramen. From there, it flows into the fourth ventricle through another narrow passageway called the cerebral aqueduct. CSF then leaves the fourth ventricle and enters the subarachnoid space surrounding the brain and spinal cord, where it can be absorbed into the bloodstream.

Abnormalities in the size or shape of the cerebral ventricles can indicate underlying neurological conditions, such as hydrocephalus (excessive accumulation of CSF) or atrophy (shrinkage) of brain tissue. Imaging techniques, such as computed tomography (CT) or magnetic resonance imaging (MRI), are often used to assess the size and shape of the cerebral ventricles in clinical settings.

RNA-binding proteins (RBPs) are a class of proteins that selectively interact with RNA molecules to form ribonucleoprotein complexes. These proteins play crucial roles in the post-transcriptional regulation of gene expression, including pre-mRNA processing, mRNA stability, transport, localization, and translation. RBPs recognize specific RNA sequences or structures through their modular RNA-binding domains, which can be highly degenerate and allow for the recognition of a wide range of RNA targets. The interaction between RBPs and RNA is often dynamic and can be regulated by various post-translational modifications of the proteins or by environmental stimuli, allowing for fine-tuning of gene expression in response to changing cellular needs. Dysregulation of RBP function has been implicated in various human diseases, including neurological disorders and cancer.

Helicobacter pylori (H. pylori) is a gram-negative, microaerophilic bacterium that colonizes the stomach of approximately 50% of the global population. It is closely associated with gastritis and peptic ulcer disease, and is implicated in the pathogenesis of gastric adenocarcinoma and mucosa-associated lymphoid tissue (MALT) lymphoma. H. pylori infection is usually acquired in childhood and can persist for life if not treated. The bacterium's spiral shape and flagella allow it to penetrate the mucus layer and adhere to the gastric epithelium, where it releases virulence factors that cause inflammation and tissue damage. Diagnosis of H. pylori infection can be made through various tests, including urea breath test, stool antigen test, or histological examination of a gastric biopsy. Treatment typically involves a combination of antibiotics and proton pump inhibitors to eradicate the bacteria and promote healing of the stomach lining.

Gastritis is a medical condition characterized by inflammation of the lining of the stomach. It can be caused by various factors, including bacterial infections (such as Helicobacter pylori), regular use of nonsteroidal anti-inflammatory drugs (NSAIDs), excessive alcohol consumption, and stress.

Gastritis can present with a range of symptoms, such as abdominal pain or discomfort, nausea, vomiting, loss of appetite, and bloating. In some cases, gastritis may not cause any noticeable symptoms. Depending on the severity and duration of inflammation, gastritis can lead to complications like stomach ulcers or even stomach cancer if left untreated.

There are two main types of gastritis: acute and chronic. Acute gastritis develops suddenly and may last for a short period, while chronic gastritis persists over time, often leading to atrophy of the stomach lining. Diagnosis typically involves endoscopy and tissue biopsy to assess the extent of inflammation and rule out other potential causes of symptoms. Treatment options depend on the underlying cause but may include antibiotics, proton pump inhibitors, or lifestyle modifications.

Gastric mucosa refers to the innermost lining of the stomach, which is in contact with the gastric lumen. It is a specialized mucous membrane that consists of epithelial cells, lamina propria, and a thin layer of smooth muscle. The surface epithelium is primarily made up of mucus-secreting cells (goblet cells) and parietal cells, which secrete hydrochloric acid and intrinsic factor, and chief cells, which produce pepsinogen.

The gastric mucosa has several important functions, including protection against self-digestion by the stomach's own digestive enzymes and hydrochloric acid. The mucus layer secreted by the epithelial cells forms a physical barrier that prevents the acidic contents of the stomach from damaging the underlying tissues. Additionally, the bicarbonate ions secreted by the surface epithelial cells help neutralize the acidity in the immediate vicinity of the mucosa.

The gastric mucosa is also responsible for the initial digestion of food through the action of hydrochloric acid and pepsin, an enzyme that breaks down proteins into smaller peptides. The intrinsic factor secreted by parietal cells plays a crucial role in the absorption of vitamin B12 in the small intestine.

The gastric mucosa is constantly exposed to potential damage from various factors, including acid, pepsin, and other digestive enzymes, as well as mechanical stress due to muscle contractions during digestion. To maintain its integrity, the gastric mucosa has a remarkable capacity for self-repair and regeneration. However, chronic exposure to noxious stimuli or certain medical conditions can lead to inflammation, erosions, ulcers, or even cancer of the gastric mucosa.

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... -deafness syndrome "Multiple system atrophy - cerebellar subtype: MedlinePlus Medical Encyclopedia ... Olivopontocerebellar atrophy (OPCA) is the degeneration of neurons in specific areas of the brain - the cerebellum, pons, and ... Olivopontocerebellar atrophy is hereditary, but has an unknown genetic basis. There are two forms: A few non-hereditary ... "NINDS Olivopontocerebellar Atrophy Information Page". Archived from the original on 2012-01-27. Retrieved 7 Feb 2012. synd/1903 ...
... is the normal or spontaneous atrophy or shrinkage of the breasts. Breast atrophy commonly occurs in women during ... breast atrophy may be a desired effect. Examples of treatment options for breast atrophy, depending on the situation/when ...
... (GA), also known as atrophic age-related macular degeneration (AMD) or advanced dry AMD, is an advanced form ... Geographic atrophy is a chronic disease, which leads to visual function loss. This often results in difficulties performing ... Diagnosis of geographic atrophy is made by an ophthalmologist in the clinic. Fundus autofluorescence and optical coherence ... The incidence of advanced AMD, both geographic atrophy and neovascular AMD, increases exponentially with age. The aim of most ...
"Atrophy - Might Release New Music This Year". Metal Storm. January 31, 2022. Retrieved January 31, 2022. "Atrophy - From Now On ... "Atrophy - New Music In Progress". metalstorm.net. April 4, 2018. Retrieved April 4, 2018. "ATROPHY Frontman Offers Update On ... "Atrophy - Working On New Music". metalstorm.net. October 24, 2016. Retrieved April 4, 2018. "Thrash Underdogs Atrophy Return ... "Atrophy". sputnikmusic.com. Retrieved November 21, 2013. "Retro Recommendation: Atrophy - Socialized Hate - Heavy Metal". ...
Testicular volume measured to be less than 12 mL is a sign of testicular atrophy. In addition, testicular atrophy can be ... Testicular atrophy is a medical condition in which one or both testicles (or "testes") diminish in size and may be accompanied ... Testicular atrophy is not related to the temporary shrinkage of the surrounding scrotum, which might occur in response to cold ... Testicular atrophy is also a side effect of estrogen therapy. COVID-19 can lead to reduced testosterone production and ...
... is the diminished capacity to appreciate new or unfamiliar music or other sensory stimuli. It is typically ... Cizmar, Martin (31 December 2009). "The Scourge of Aesthetic Atrophy, and the Top 50 Albums of the Aughts". Phoenix New Times. ...
... can be explained as cell loss and gliosis or a proliferation of astrocytes in damaged areas of the ... "Multiple system atrophy" at Dorland's Medical Dictionary Peng C, Gathagan RJ, Covell DJ, Medellin C, Stieber A, Robinson JL, et ... Multiple system atrophy is estimated to affect approximately 5 per 100,000 people. At autopsy, many patients diagnosed during ... In MSA-C, a "hot cross bun" sign is sometimes found; it reflects atrophy of the pontocerebellar tracts that give T2 hyper ...
Aran-Duchenne muscular atrophy, and Duchenne-Aran muscular atrophy. The name "spinal muscular atrophy" is ambiguous as it ... Progressive muscular atrophy (PMA), also called Duchenne-Aran disease and Duchenne-Aran muscular atrophy, is a disorder ... The condition has been called progressive muscular atrophy (PMA), spinal muscular atrophy (SMA), Aran-Duchenne disease, ... Instead, a number of other possibilities have to be ruled out, such as multifocal motor neuropathy or spinal muscular atrophy. ...
... since the area of atrophy involves the occipital lobe responsible for visual processing. The atrophy is progressive; early ... Over time, however, atrophy in PCA may spread to regions that are commonly damaged in AD, leading to shared AD symptoms such as ... Posterior cortical atrophy (PCA), also called Benson's syndrome, is a rare form of dementia which is considered a visual ... At this early stage brain atrophy will be shown to be more centrally located in the right posterior lobe and occipital gyrus, ...
2006). "Neuronal Atrophy and Synaptic Alteration in a Mouse Model of Dentatorubral-pallidoluysian Atrophy". Brain. 129 (Pt 9): ... Again, neuronal atrophy was noted, but no neuronal loss (until death). Diffuse accumulation in the nuclei began on post-natal ... Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar degeneration caused by an expansion of a ... 1994). "Dentatorubral-pallidoluysian atrophy and Haw River Syndrome". Lancet. 344 (8938): 1711-2. doi:10.1016/S0140-6736(94) ...
... (PRA) is a group of genetic diseases seen in certain breeds of dogs and, more rarely, cats. Similar ... Central progressive retinal atrophy (CPRA) is a different disease from PRA involving the retinal pigment epithelium (RPE), and ... "Progressive Retinal Atrophy in Dogs". Pet Health Network. Retrieved 2019-12-21. Article on PRA Article on Cataracts (CS1 errors ... The pigmented spots eventually coalesce and fade as the atrophy of the retina increases. It is an inherited condition (in the ...
"Spinal Muscular Atrophy". NORD (National Organization for Rare Disorders). Retrieved 27 May 2019. "Spinal muscular atrophy". ... "Spinal muscular atrophy: MedlinePlus Genetics". medlineplus.gov. Retrieved 24 October 2020. "Spinal Muscular Atrophy (SMA) , ... "Spinal muscular atrophy". Genetics Home Reference. Retrieved 27 May 2019. "Spinal Muscular Atrophy - Conditions , Children's ... Spinal muscular atrophy, Motor neuron diseases, Autosomal recessive disorders, Nucleus diseases, Systemic atrophies primarily ...
... is a rare genetic disorder characterized by olivopontocerebellar atrophy which ... "Olivopontocerebellar atrophy deafness - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info. ... Pratap-Chand, R.; Gururaj, A. K.; Dilip-Kumar, S. (1995-02-01). "A syndrome of olivopontocerebellar atrophy and deafness with ... "Olivopontocerebellar Atrophy: Background, Pathophysiology, Epidemiology". 2022-03-11. {{cite journal}}: Cite journal requires , ...
ISBN 978-4-263-20140-4. (skin atrophy caused during application of the steroid ointment). "Steroid Atrophy". (CS1: long volume ... Steroid-induced skin atrophy is thinning of the skin as a result of prolonged exposure to steroids. In people with psoriasis ... Skin atrophy can occur with both prescription and over the counter steroids creams. Low doses of prednisone by mouth can also ... Steroid-induced skin atrophy is often permanent, though if caught soon enough and the topical corticosteroid discontinued in ...
... , also known for its abbreviations PBCRA or CRAPB, is a rare, slowly progressive, ... "Entry - #600790 - CHORIORETINAL ATROPHY, PROGRESSIVE BIFOCAL; PBCRA - OMIM". www.omim.org. Retrieved 2022-12-25. Godley, B. F ... "Progressive bifocal chorioretinal atrophy". NORD (National Organization for Rare Disorders). 16 June 2022. Retrieved 2022-12-25 ... "Progressive bifocal chorioretinal atrophy - About the Disease - Genetic and Rare Diseases Information Center". rarediseases. ...
June 2012). "Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss ... The presentation is as follows:[medical citation needed] Neurogenic muscle weakness Atrophy (of lower and upper limbs) Club ... February 2004). "Congenital form of spinal muscular atrophy predominantly affecting the lower limbs: a clinical and muscle MRI ... Congenital distal spinal muscular atrophy (cDSMA), also known as distal hereditary motor neuropathy (or neuronopathy) type VIII ...
"Spinal muscular atrophy, jokela type (Concept Id: C3554398) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 5 May 2021. " ... The disease is slowly progressive with adult onset and results in weakness and mild muscle atrophy. The disease does not affect ... Jokela type spinal muscular atrophy (SMAJ), also known as late-onset spinal motor neuronopathy (LOSMoN), is an ultra-rare ... Medicine portal Chromosome 22 Finnish heritage disease Spinal muscular atrophies "Uusi hitaasti etenevä motoneuronitauti ...
Lingual atrophy occurs later in the course of the disease, but the tongue may develop an unusual shape due to coexisting ... Spinal muscular atrophies Arvin, Shelley (2013-04-01). "Analysis of inconsistencies in terminology of spinal and bulbar ... Kennedy, W. R.; Alter, M.; Sung, J. H. (1968). "Progressive proximal spinal and bulbar muscular atrophy of late onset. A sex- ... Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive ...
Other types of brown atrophy include brown atrophy of neuronia and brown atrophy of the liver.[citation needed] Atrophy ( ... Brown atrophy of the heart is atrophy of the heart muscle (or myocardium) commonly found in the elderly. It is described as ... relating to all tissues, see Muscle atrophy for atrophy in muscle tissue). Xanthosis Roffe, C (Jun 1998). "Ageing of the heart ...
... (DSMA2), also known as Jerash type distal hereditary motor neuropathy (HMNJ), is a very ... Spinal muscular atrophies Distal hereditary motor neuropathies Christodoulou, K; Zamba, E; Tsingis, M; Mubaidin, A; Horani, K; ...
"Keratosis follicularis dwarfism and cerebral atrophy". 16 June 2022. "Keratosis Follicularis Dwarfism and Cerebral Atrophy". ... "Entry - 308830 - KERATOSIS FOLLICULARIS, DWARFISM, AND CEREBRAL ATROPHY - OMIM". omim.org. Retrieved 2022-09-25. Cantu, J. M.; ... Keratosis follicularis-dwarfism-cerebral atrophy syndrome is a rare, presumably X-linked recessive genetic disorder ... "Keratosis follicularis dwarfism and cerebral atrophy - About the Disease - Genetic and Rare Diseases Information Center". ...
NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics 94: 303-309 Chen CA, Bosch ... "OMIM Entry - # 615722 - Bosch-Boonstra-Schaaf Optic Atrophy Syndrome; BBSOAS". omim.org. Retrieved 19 January 2020. Bosch DGM, ... Bosch-Boonstra-Schaaf optic atrophy syndrome is a rare autosomally inherited condition characterised by developmental delay, ... NR2F1 mutations cause optic atrophy with intellectual disability. American Journal of Human Genetics. 94: 303-309. (Articles ...
... (MARES) This article incorporates public domain material from Muscle Atrophy ... The Muscle Atrophy Research and Exercise System (MARES), part of the Human Research Facility (HRF), was launched on 5 April ... Scientific research on the ISS ESA - MARES "NASA - Muscle Atrophy Research and Exercise System (MARES)". Archived from the ...
... (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1 ... Distal hereditary motor neuropathies Spinal muscular atrophies Spinal muscular atrophy Messina, M. F.; Messina, S.; Gaeta, M.; ... There is no published practice standard for the care in DSMA1, even though the Spinal Muscular Atrophy Standard of Care ... DSMA1 was identified and classified as a sub-group of spinal muscular atrophies (SMA) in 1974. Currently, various ...
Proximal spinal muscular atrophies, i.e., conditions that affect primarily proximal muscles; Distal spinal muscular atrophies ( ... In all forms of SMA (with an exception of X-linked spinal muscular atrophy type 1), only motor neurons, located at the anterior ... Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders ... Based on the type of muscles affected, spinal muscular atrophies can be divided into:[citation needed] ...
Spinal muscular atrophies Arthrogryposis Ramser, J.; Ahearn, M. E.; Lenski, C.; Yariz, K. O.; Hellebrand, H.; Von Rhein, M.; ... Symptoms resemble the more severe forms of the more common spinal muscular atrophy (SMA); however, SMAX2 is caused by a ... In infancy it is important to look for the following when considering a X-linked spinal muscular atrophy diagnosis: Congenital ... X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1 ...
... (SMA-PME), sometimes called Jankovic-Rivera syndrome, is a very ... "Spinal muscular atrophy with progressive myoclonic epilepsy". Genetics Home Reference. Retrieved 2018-09-24. Zhou, J.; Tawk, M ... Jankovic, J.; Rivera, V. M. (1979). "Hereditary myoclonus and progressive distal muscular atrophy". Annals of Neurology. 6 (3 ... National Institutes of Health (December 2013). "Genetics Home Reference: Spinal muscular atrophy with progressive myoclonic ...
Spinal muscular atrophy (SMA) refers to a group of hereditary diseases that can damage and kill specialized nerve cells in the ... What is spinal muscular atrophy?. Spinal muscular atrophy (SMA) refers to a group of hereditary diseases that can damage and ... How is spinal muscular atrophy diagnosed and treated?. Diagnosing SMA. A blood test is available to look for mutations or ... Who is more likely to get spinal muscular atrophy?. The most common form of SMA is caused by a mutated or missing gene known as ...
Find symptoms and other information about Olivopontocerebellar atrophy. ... The sporadic forms are considered now to be a form of multiple system atrophy (MSA). OPCA may also occur in people with prion ... The sporadic forms are considered now to be a form of multiple system atrophy (MSA). OPCA may also occur in people with prion ... The sporadic forms are considered now to be a form of multiple system atrophy (MSA). OPCA may also occur in people with prion ...
... is often permanent although the degree of atrophy may improve if topical corticosteroids are discontinued as ... Skin thinning of atrophy and telangectasia are often present on the face. Other common areas of involvement such as the groin ... Steroid atrophy is a potential untoward effect whenever topical corticosteroids are used. Proper selection of medication ... Class I and II topical corticosteroids can induce atrophy, telangectasia, and striae in as little as 2 to 3 weeks after daily ...
Spinal muscular atrophy (SMA) attacks nerve cells in the spinal cord, weakening voluntary muscles. Read about the genetics, ... Spinal muscular atrophy: MedlinePlus Genetics (National Library of Medicine) * X-linked infantile spinal muscular atrophy: ... Spinal and bulbar muscular atrophy: MedlinePlus Genetics (National Library of Medicine) * Spinal muscular atrophy with lower ... What is spinal muscular atrophy (SMA)?. Spinal muscular atrophy (SMA) is a group of genetic diseases that damages and kills ...
Spinal Muscular Atrophy (SMA) is a genetic disorder that affects approximately 1 out of every 10,000 people. Most cases of SMA ...
... atrophy ) in muscles used for movement (skeletal muscles). Explore symptoms, inheritance, genetics of this condition. ... Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting ( ... Spinal muscular atrophy affects 1 per 8,000 to 10,000 people worldwide. Spinal muscular atrophy type I is the most common type ... Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy. ) in muscles used for movement ( ...
Olivopontocerebellar atrophy (OPCA) is a neurodegenerative syndrome characterized by prominent cerebellar and extrapyramidal ... Infantile olivopontocerebellar atrophy with spinal muscular atrophy (infantile OPCA + SMA). Clin Neuropathol. 1990 Jan-Feb. 9(1 ... Evolution of sporadic olivopontocerebellar atrophy into multiple system atrophy. Neurology. 2000 Aug 22. 55(4):527-32. [QxMD ... Pontocerebellar hypoplasia type, PCH-3, Pontocerebellar hypoplasia with optic atrophy. Cerebellar atrophy with progressive ...
Hepatocyte atrophy and glycogen depletion after 90 days of exposure to malonaldehyde. Note paucity of cytoplasm and crowding of ...
Olivopontocerebellar atrophy Optic atrophy Spinomuscular atrophy Hypertrophy List of biological development disorders W. T. ... Atrophy is the partial or complete wasting away of a part of the body. Causes of atrophy include mutations (which can destroy ... The adrenal glands atrophy during prolonged use of exogenous glucocorticoids like prednisone. Atrophy of the breasts can occur ... This atrophy, occurring concurrently with breast atrophy, is consistent with the homeostatic (normal development) role of ...
Multiple system atrophy can be explained as cell loss and gliosis or a proliferation of astrocytes in damaged areas of the ... "Multiple system atrophy" at Dorlands Medical Dictionary Peng C, Gathagan RJ, Covell DJ, Medellin C, Stieber A, Robinson JL, et ... Multiple system atrophy is estimated to affect approximately 5 per 100,000 people. At autopsy, many patients diagnosed during ... In MSA-C, a "hot cross bun" sign is sometimes found; it reflects atrophy of the pontocerebellar tracts that give T2 hyper ...
... is a medical condition that causes central vision loss. Get the facts about this advanced form of dry age- ... How Your Geographic Atrophy May Change Over Time. You may start out with areas of atrophy next to healthy spots of retina. But ... Bob OConnell, geographic atrophy advocate, Paoli, PA. Journal of Managed Care Specialty Pharmacy: "Geographic atrophy: ... What Is Geographic Atrophy?. Geographic atrophy (GA) is one of two kinds of advanced age-related macular degeneration (AMD). ...
... atrophy ) in muscles used for movement (skeletal muscles). Explore symptoms, inheritance, genetics of this condition. ... Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting ( ... Spinal muscular atrophy affects 1 per 8,000 to 10,000 people worldwide. Spinal muscular atrophy type I is the most common type ... Spinal muscular atrophy is a genetic disorder characterized by weakness and wasting (atrophy. ) in muscles used for movement ( ...
... would like to have any suggestion related to the best indicator that I should use to control/covariate for gray matter atrophy ... Atrophy measure suggestion LuisaBoh. July 30, 2021 03:44PM. Re: Atrophy measure suggestion Daniel Glen. August 12, 2021 09:56AM ... would like to have any suggestion related to the best indicator that I should use to control/covariate for gray matter atrophy ...
Read about spinal muscular atrophy (SMA), a condition that makes the muscles weaker and causes problems with movement that get ... Spinal muscular atrophy (SMA) is a genetic condition that makes the muscles weaker and causes problems with movement. ... If you or your child has spinal muscular atrophy, your clinical team will pass on information about you or your child to the ... The NCARDRS helps scientists look for better ways to prevent and treat spinal muscular atrophy. You can opt out of the register ...
Home , News & Events , Science News , Science News from 2018 , Delay in HIV Treatment Associated with Brain Atrophy. ...
How do doctors treat spinal muscular atrophy (SMA)?. There is no cure for SMA. Treatment depends on your childs symptoms and ...
Spinal Muscular Atrophy (SMA) Biomarker Study (U01) RFA-NS-12-004. NINDS ... Spinal Muscular Atrophy (SMA), associated with a mutation in chromosome 5, is thought to be the second most common autosomal ... of Spinal Muscular Atrophy designed for regulatory approval purposes. ...
A recent study that looked at the rate of atrophy over 18 months in cognitively normal older adults suggests that physical ... Physical activity may help prevent atrophy of the hippocampus, a brain region important for learning and memory that often ... A recent study that looked at the rate of atrophy over 18 months in cognitively normal older adults suggests that physical ... Physical activity may help prevent atrophy of the hippocampus, a brain region important for learning and memory that often ...
Posterior cortical atrophy - learn about PCA symptoms, diagnosis, causes and treatments and how this disorder relates to ... About posterior cortical atrophy. It is not known whether posterior cortical atrophy is a unique disease or a possible variant ... Posterior cortical atrophy (PCA) refers to gradual and progressive degeneration of the outer layer of the brain (the cortex) in ... Because posterior cortical atrophy resembles Alzheimers disease in some patients, it has been suggested that drugs used to ...
I would think that your sons neck muscle atrophy and rounded shoulders are indeed from the radiation txs. I was 29 when I had ... I would think that your sons neck muscle atrophy and rounded shoulders are indeed from the radiation txs. I was 29 when I had ... my radaition for Hodgkin Lymphoma and I have the atrophy and rounded shoulders (the chest fascia is pulled tight which rolls ... my radaition for Hodgkin Lymphoma and I have the atrophy and rounded shoulders (the chest fascia is pulled tight which rolls ...
Voice changes due to vocal cord atrophy are common in people over the age of 60 years. ... Voice changes due to vocal cord atrophy are common in people over the age of 60 years. The most common symptoms include:. *. ... As we age, muscle begins to atrophy. The vocal cords are composed of several important layers of tissue, but the fullness and ... If you are diagnosed with vocal cord atrophy or presbylaryngis, voice therapy with a speech-language pathologist is the most ...
Vaginal atrophy... what is it? And how can you manage it? Weve created this quick guide to the topic and what you can do about ... What causes vaginal atrophy? Generally speaking, vaginal atrophy is caused by a decrease in oestrogen levels. This means that ... The symptoms of vaginal atrophy. As we mentioned just above, vaginal atrophy refers to the thinning, inflammation and drying of ... Tips for managing vaginal atrophy. If youre experiencing symptoms related to vaginal atrophy, there are a few different ...
30 years multiple system atrophy concept: retrospect and overview of multiple system atrophy]. Probst-Cousin S, Kayser C, Heuss ... Multiple system atrophy. Rehman HU. Rehman HU. Postgrad Med J. 2001 Jun;77(908):379-82. doi: 10.1136/pmj.77.908.379. Postgrad ... Multiple system atrophy. Kaufmann H. Kaufmann H. Curr Opin Neurol. 1998 Aug;11(4):351-5. doi: 10.1097/00019052-199808000-00011. ... Consensus on the diagnosis of multi-system atrophy]. Gilman S, Low P, Quinn N, Albanese A, Ben-Shlomo Y, Fowler C, Kaufmann H, ...
This report describes a case of olivopontocerebellar atrophy, a form of multiple system atrophy, developing in an adult after ... Levin J, Maaß S, Schuberth M and Höglinger G (2017) Multiple System Atrophy Movement Disorders Curricula, 10.1007/978-3-7091- ... Shults C and Gilman S (2003) Multiple System Atrophy Genetics of Movement Disorders, 10.1016/B978-012566652-7/50025-3, (213-229 ... Sturm E and Stefanova N (2014) Multiple System Atrophy: Genetic or Epigenetic?, Experimental Neurobiology, 10.5607/en.2014.23. ...
Are you aware of the latest research in the treatment of geographic atrophy? Test your knowledge with this short quiz. ...
... the First Approved Drug for Spinal Muscular Atrophy ... Spinraza, the First Approved Drug for Spinal Muscular Atrophy. ...
Atrophy is characterized by reduced thymus size and weight secondary to thymic lymphocyte depletion. ... Thymus - Atrophy Narrative. Comment:. Atrophy is characterized by reduced thymus size and weight secondary to thymic lymphocyte ... When present, atrophy of the thymus should be diagnosed and graded. If atrophy involves only one lobe or is localized, this ... Thymus - Atrophy in a treated female F344/NTac rat from a subchronic study. The cortex, showing minimal atrophy, is thinner and ...
Geographic atrophy is a serious form of age-related macular degeneration (AMD) that can rob you of your sight. These strategies ... 5 Ways Geographic Atrophy Can Impact Your Quality of Life (and What to Do About It). 5 Ways Geographic Atrophy Can Impact Your ... 5 Key Facts to Know About Vision Loss From Geographic Atrophy. 5 Key Facts to Know About Vision Loss From Geographic Atrophy. ... Have AMD? Heres What to Eat to Minimize Geographic Atrophy Risk. Have AMD? Heres What to Eat to Minimize Geographic Atrophy ...
Roche, PTC Research Muscular Atrophy by Michael McCoy December 5, 2011 , A version of this story appeared in Volume 89, Issue ... Roche has licensed rights to PTC Therapeutics drug discovery program in spinal muscular atrophy, a genetic disorder that ...

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