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484 Possible Causes for Autophagic, Rimmed Vacuoles

Did you mean: Autophagic, Rimmed, Vacuoles

  • Danon Disease

    Abstract Among the autophagic vacuolar myopathies (AVMs), a subgroup is characterized pathologically by unusual autophagic vacuoles with sarcolemmal features (AVSF) and includes[ncbi.nlm.nih.gov] However, the first muscle biopsy with large cytoplasmic vacuoles confused the diagnosis and led to the second biopsy that allowed for the final diagnosis.[ncbi.nlm.nih.gov] Two patients underwent heart transplantation; histology of explanted hearts demonstrated severe interstitial fibrosis, hypertrophic cardiomyocytes with cytoplasmic vacuoles[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy Type 2G

    Muscle biopsy demonstrated large groups of atrophic and hypertrophic fibers, frequent fibers with intracytoplasmic rimmed vacuoles full of autophagic membrane and sarcoplasmic[bmcclinpathol.biomedcentral.com] ) Caveolin 3 Stabilisation of the sarcolemmal membrane, regulates cellular signal traffic [ 19, 20 ] 1D 7q ( DNAJB6 ) HSP40 Molecular chaperone involved in proteomic and autophagic[content.iospress.com] Muscle biopsy shows a dystrophic pattern, including rimmed vacuoles.[link.springer.com]

  • Inclusion Body Myositis

    One autophagic adaptor protein not previously identified in sIBM was FYCO1.[ncbi.nlm.nih.gov] The coexistence of ring fibres, rimmed vacuoles and inclusion-body myositis-type inclusions in a child with congenital myopathy has not been previously reported.[ncbi.nlm.nih.gov] The sIBM has characteristic clinical and histological findings, and the use of degeneration and autophagic markers can be useful for the diagnosis.[ncbi.nlm.nih.gov]

  • Oculo-Pharyngo-Distal Myopathy

    Myopathologic findings included rimmed and autophagic vacuoles and chronic myopathic changes.[ncbi.nlm.nih.gov] Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Associated cardiomyopathy Laboratory Serum CK: High (Normal to 8x high) EMG: Myopathic; Myotonic discharges (50%) Pathology Myopathic changes: Chronic Vacuoles: Rimmed; Autophagic[neuromuscular.wustl.edu]

  • Inclusion Body Myopathy

    Treatment of some autophagic disorders with mTOR inhibitors such as rapamycin may worsen disease.[ncbi.nlm.nih.gov] The most significant muscle pathology is the presence of rimmed vacuoles, which appear to play a major role in muscle atrophy and weakness.[ncbi.nlm.nih.gov] In addition, IBMPFD mutations in p97/VCP lead to accumulation of autophagic structures in patient and transgenic animal tissue.[ncbi.nlm.nih.gov]

  • Hereditary Proximal Myopathy with Early Respiratory Failure

    Typical cytoplasmic bodies surrounded by clear halo and autophagic vacuoles in a severely damaged fiber ( f ).[bmcneurol.biomedcentral.com] […] myopathy, bulbar weakness, and distal myopathy. 12 Diagnosis is made by exclusion of other similar conditions with genetic testing, and muscle-pathology findings of rimmed and autophagic[dovepress.com] […] some patients Myosin heavy chain expression: Abnormal; Double positive fibers Hyaline inclusions: Light green-stain on Gomori trichrome Vacuoles: None in most patients; Autophagic[neuromuscular.wustl.edu]

  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] Microscope magnification, 400 Vacuolization and autophagic degeneration of cardiomyocytes and extensive replacement fibrosis in cardiac muscle Case Report 2 21.[slideshare.net] […] some patients Myosin heavy chain expression: Abnormal; Double positive fibers Hyaline inclusions: Light green-stain on Gomori trichrome Vacuoles: None in most patients; Autophagic[neuromuscular.wustl.edu]

  • Oculopharyngeal Muscular Dystrophy

    Associated cardiomyopathy Laboratory Serum CK: High (Normal to 8x high) EMG: Myopathic; Myotonic discharges (50%) Pathology Myopathic changes: Chronic Vacuoles: Rimmed; Autophagic[neuromuscular.wustl.edu] In contrast, patients with distal myopathy with rimmed vacuoles revealed many rimmed vacuoles, on average in 20% of the fibers, and their oculopharyngeal muscles were spared[ncbi.nlm.nih.gov] Histologic studies of slightly affected muscles reveal mild myogenic changes, occasional rimmed vacuoles, and small angulated fibers.[ncbi.nlm.nih.gov]

  • Autosomal Recessive Limb-Girdle Muscular Dystrophy

    ) Caveolin 3 Stabilisation of the sarcolemmal membrane, regulates cellular signal traffic [ 19, 20 ] 1D 7q ( DNAJB6 ) HSP40 Molecular chaperone involved in proteomic and autophagic[content.iospress.com] Histopathology of skeletal muscles biopsies showed typical dystrophic changes with many rimmed vacuoles.[ncbi.nlm.nih.gov] vacuoles.[ncbi.nlm.nih.gov]

  • Limb-Girdle Muscular Dystrophy

    Interestingly, autophagic vacuoles, which we have observed in our affected subjects’ muscle, have been also noted in LGMD1D, which is due to mutations in DNAJB6.[ncbi.nlm.nih.gov] Our case suggests that posterior-dominant lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy[ncbi.nlm.nih.gov] Muscle biopsy showed dystrophic features with many rimmed vacuoles in the fibers.[ncbi.nlm.nih.gov]

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