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Journal of Clinical Neuroscience :... Oct 2013We describe an atypical case of Hirayama disease (HD) presenting as unilateral triceps atrophy. HD is juvenile muscular atrophy involving predominantly the seventh and...
We describe an atypical case of Hirayama disease (HD) presenting as unilateral triceps atrophy. HD is juvenile muscular atrophy involving predominantly the seventh and eighth cervical, and the first thoracic spinal segments of the distal upper extremities. In contrast to typical HD, our patient presented with isolated triceps atrophy, innervated by the sixth and seventh cervical segments. We discuss the differences with previously reported HD and the mechanisms involved in the development of HD.
Topics: Adolescent; Arm; Atrophy; Humans; Magnetic Resonance Imaging; Male; Muscle, Skeletal; Spinal Muscular Atrophies of Childhood
PubMed: 23528413
DOI: 10.1016/j.jocn.2012.09.034 -
Journal of Human Genetics Apr 2021Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation sequencing....
Pontocerebellar hypoplasia (PCH) is currently classified into 13 subgroups and many gene variants associated with PCH have been identified by next generation sequencing. PCH type 1 is a rare heterogeneous neurodegenerative disorder. The clinical presentation includes early-onset severe developmental delay, progressive motor neuronopathy, and cerebellar and pontine atrophy. Recently two variants in the EXOSC9 gene (MIM: 606180), NM_001034194.1: c.41T>C (p.Leu14Pro) and c.481C>T (p.Arg161*) were identified in four unrelated patients with PCH type 1D (PCH1D) (MIM: 618065). EXOSC9 encodes a component of the exosome complex, which is essential for correct processing and degradation of RNA. We report here two PCH1D families with biallelic EXOSC9 variants: c.239T>G (p.Leu80Arg) and c.484dupA (p.Arg162Lysfs*3) in one family and c.151G>C (p.Gly51Arg) in the other family. Although the patients studied here showed similar clinical features as previously described for PCH1D, relatively greater intellectual development (although still highly restricted) and normal pontine structure were recognized. Our findings expand the clinical consequences of biallelic EXOSC9 variants.
Topics: Atrophy; Cerebellar Diseases; Exosome Multienzyme Ribonuclease Complex; Female; Genetic Association Studies; Humans; Infant; Male; Motor Neuron Disease; Muscular Atrophy, Spinal; Mutation; Olivopontocerebellar Atrophies; Pedigree; RNA-Binding Proteins
PubMed: 33040083
DOI: 10.1038/s10038-020-00853-2 -
Medicine and Science in Sports and... Jan 2004The current state of knowledge regarding regrowth of skeletal muscle after inactivity-induced atrophy is reviewed. Muscle regrowth is incomplete after hindlimb... (Review)
Review
The current state of knowledge regarding regrowth of skeletal muscle after inactivity-induced atrophy is reviewed. Muscle regrowth is incomplete after hindlimb suspension in juvenile rats and after limb immobilization in old animals. The process of regrowth from immobilization-induced atrophy likely involves the reversal of directional changes in molecules producing muscle loss while initiating anabolic processes for regrowth of muscle mass. Unfortunately, the molecular mechanisms responsible for successful, or failed, muscle regrowth are not well understood. The purpose of the review is to provide current knowledge about the biology of muscle regrowth from inactivity-induced atrophy.
Topics: Age Factors; Aging; Animals; Humans; Immobilization; Motor Activity; Muscle Proteins; Muscle, Skeletal; Muscular Atrophy; Rats; Regeneration; Weight-Bearing
PubMed: 14707768
DOI: 10.1249/01.MSS.0000106175.24978.84 -
Veterinary Pathology Nov 1999Previously published studies of the pathology of canine exocrine pancreatic insufficiency (EPI) have been based on morphological findings during the clinical phase of... (Comparative Study)
Comparative Study
Previously published studies of the pathology of canine exocrine pancreatic insufficiency (EPI) have been based on morphological findings during the clinical phase of the disease, when atrophy of acinar parenchyma occurs. Recently, low serum trypsinlike immunoreactivity (TLI) concentration has been shown to precede clinical signs, making it possible to diagnose EPI prior to onset of the clinical disease. This study presents histological and ultrastructural findings of pancreatic biopsies from 11 German Shepherd Dogs and 2 Rough-coated Collies with subclinical EPI (SEPI). These findings were compared with those from dogs with clinical EPI (n = 11) and healthy control dogs (n = 5). Biopsied tissue from dogs with SEPI typically contained both normal and atrophied acinar parenchyma. The most significant finding was the marked lymphocytic infiltration, which was most prevalent at the border zone of affected and nonaffected parenchyma but had spread into the normal acinar tissue. Numerous intraacinar lymphocytes were found. Most of the lymphocytes were positive by immunostaining for CD3. In more advanced stages of destruction, the findings were characteristic of pancreatic acinar atrophy. In the atrophied parenchyma, the inflammatory reaction, if present, was less prominent. Ultrastructural changes were in accordance with those of the histological study showing infiltration of lymphocytes both in affected acini and in acini that revealed no obvious ultrastructural changes. Progressive degenerative changes of acinar cells were considered a nonspecific finding. Apoptotic death of acinar cells was occasionally found. The inflammatory reaction was clearly shown to precede the pancreatic acinar atrophy, and the findings suggested that lymphocytic pancreatitis leads to atrophy of the pancreas. The possibility that EPI is an immune-mediated disease in German Shepherd Dogs and Rough-coated Collies is discussed.
Topics: Animals; Atrophy; Biopsy; Dog Diseases; Dogs; Female; Immunohistochemistry; Lymphocytes; Male; Microscopy, Electron; Pancreas; Pancreatitis
PubMed: 10568434
DOI: 10.1354/vp.36-6-530 -
Revue Neurologique 1999Progressive focal cortical atrophies are degenerative conditions characterised by the insidious onset and gradual exacerbation of an impairment in a single cognitive... (Review)
Review
Progressive focal cortical atrophies are degenerative conditions characterised by the insidious onset and gradual exacerbation of an impairment in a single cognitive domain related to circumscribed cerebral atrophy. Several focal cortical syndromes with deficits in the realm of cognition are reviewed: progressive impairment of language (primary progressive aphasia), speech (progressive anarthria), semantic memory (semantic dementia), episodic memory (pure progressive amnesia), vision (progressive perceptual or visuo-spatial deficits) and gesture (progressive apraxia). These conditions are histologically heterogeneous and can be associated with focal non-specific neuronal loss and gliosis with some spongiform changes (non-specific lesions), pathological features of Pick's disease (inclusion bodies and swollen neurones) or Alzheimer's disease (AD) (senile plaques and neurofibrillary tangles). A relationship between neuropsychological profiles and lesional types emerges from this review of the literature. Non-fluent primary progressive aphasia, semantic dementia and progressive anarthria are usually associated with non-specific lesions and Pick-type pathology. Progressive disorders of episodic memory and progressive visuo-spatial deficits are more often related to AD. If adequate clinical characterisation can determine the underlying disorder, it appears even more important to establish the neuropsychological profile in patients with cortical degenerative disease. Progressive deficits of only one domain of cognition may well be due to preferential involvement of anatomically and functionally defined neural systems and could therefore be considered as "system atrophies". There remains no doubt that these syndromes are particularly well suited models for studies on the relationship between cerebral functions and their neural substrate.
Topics: Aged; Alzheimer Disease; Aphasia; Atrophy; Cerebral Cortex; Cognition Disorders; Disease Progression; Humans; Neuropsychological Tests; Pick Disease of the Brain
PubMed: 10637941
DOI: No ID Found -
Arquivos de Neuro-psiquiatria Sep 1952
Topics: Atrophy; Central Nervous System Diseases; Cranial Nerves; Disease; Humans
PubMed: 13018025
DOI: 10.1590/s0004-282x1952000300002 -
Journal de Genetique Humaine Dec 1964
Review
Topics: Atrophy; Classification; Friedreich Ataxia; Genetics, Medical; Humans; Muscles; Muscular Atrophy; Switzerland
PubMed: 14269570
DOI: No ID Found -
Journal of Medical Genetics Dec 1971
Review
Topics: Adult; Amyotrophic Lateral Sclerosis; Bulbar Palsy, Progressive; Child, Preschool; Demyelinating Diseases; Electromyography; Extremities; Female; Genes, Dominant; Genes, Recessive; Humans; Infant; Male; Motor Neurons; Muscles; Muscular Atrophy; Nerve Degeneration; Paralysis; Spinal Cord Diseases
PubMed: 4948374
DOI: 10.1136/jmg.8.4.481 -
European Journal of Cell Biology Jan 1983The marine telost Pollachius virens undergoes a natural starvation during the winter, and provides a reversible, non-pathological model for studying muscle wasting. In... (Comparative Study)
Comparative Study
The marine telost Pollachius virens undergoes a natural starvation during the winter, and provides a reversible, non-pathological model for studying muscle wasting. In the present study fish were kept without food under laboratory conditions for up to 12 weeks. The effects of starvation on muscle fibre size, volume fractions of mitochondria and myofibrils, and capillary supply were determined. Starvation results in a preferential atrophy and degradation of fast muscle myofibrillar proteins. For example, fibre cross-sectional area decreased from 1014 to 535 micrometers 2 (p less than 0.005) and myofibrillar volume fraction from 79.0% to 56.4% (p less than 0.001) in fast fibres following 12 weeks starvation. In contrast there was little change in these parameters in slow muscle fibres. Evidence is presented that M-line and Z-disc breakdown occur as an initial stage of myofibrillar degradation. Sarcoplasmic reticulum in atrophied fibres often appeared swollen and multi-membraned lysosome-like vesicles were common. The percentage of slow fibres (44 to 64%; p less than 0.025) and fast fibers (51 to 86%; p less than 0.01) without capillary contact increased and the percentage of fibre perimeter vascularised decreased during a 12 week starvation (6.3 to 3.3% in slow fibres and 2.8 to 1.1% fast fibres). The volume fractions of mitochondria in slow fibres decreased in parallel to the decrease in capillary supply (from 34.6 to 18.6%; p less than 0.001). Mechanisms of myofibrillar degradation during muscle wasting are discussed.
Topics: Animals; Fish Diseases; Fishes; Microscopy, Electron; Muscular Atrophy; Starvation
PubMed: 6832167
DOI: No ID Found -
La Revue de Medecine Interne Feb 2002The radiation-induced fibro-atrophic process described in numerous tissues and organs is a localized and irreversible late effect of high-dose radiation therapy. Our... (Review)
Review
PURPOSE
The radiation-induced fibro-atrophic process described in numerous tissues and organs is a localized and irreversible late effect of high-dose radiation therapy. Our purpose is to show that this process is today reversible.
CURRENT KNOWLEDGE AND KEY POINTS
This review describes a synthesis of various clinical, paraclinical and histopathological aspects of radiation-induced fibro-atrophic process, and of cellular and molecular process regulation. Schematically, there exists a prefibrotic aspecific inflammatory phase, then a constituted and cellular phase, then a matricial densification and remodeling phase, associated in some cases with a tissular terminal necrosis. The respective parts and their evolution during time of the main protagonists as myofibroblast, extracellular matrix and growth factor TGF beta 1 are clarified. From the pathophysiological mechanisms described, curative therapeutic attitudes are proposed for the different progressive phases. Especially, superoxide dismutase (not available) and the pentoxifylline-tocopherol combination seem to allow reduction and reversibility of the fibro-atrophic radiation-induced established process, in clinics as in animal experiments.
FUTURE PROSPECTS AND PROJECTS
Some phase II trials try to assess the therapeutic interest of combined pentoxifylline-tocopherol in various radiation-induced sequelae, as in osteo-radionecrosis. A clinical randomized trial phase III has just been achieved and could support the results of these experimental and retrospective clinical trials.
Topics: Atrophy; Fibrosis; Humans; Radiotherapy; Remission Induction
PubMed: 11876060
DOI: 10.1016/s0248-8663(01)00532-x