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3,348 Possible Causes for LAMP2 Protein Severely Decreased or Absent, Vacuolization

  • Danon Disease

    […] clusters of autophagic vacuoles, indicative of autolysosomes.[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]

  • Hibernoma

    Pathologic findings include sheets of multivacuolated cells with centrally placed nuclei and numerous tiny surrounding cytoplasmic vacuoles overlying bony trabeculae.[ncbi.nlm.nih.gov] Cytology [ edit ] The fine needle aspiration smears show small, round, brown fat-like cells, with uniform, small cytoplasmic vacuoles and regular, small, round nuclei.[en.wikipedia.org] Granular cell tumour : Distinguished by complete absence of lipid cytoplasmic vacuoles. The granular cells are diffusely positive with S-100 protein.[histopathology-india.net]

    Missing: LAMP2 Protein Severely Decreased or Absent
  • Pleomorphic Liposarcoma

    vacuole or vacuoles Must be sharply defined Must indent and distort nucleus May be focal or widespread S100 may highlight lipoblasts May contain cytoplasmic eosinophilic[surgpathcriteria.stanford.edu] vacuoles Sarcomatous component contains atypical spindled, round, and pleomorphic tumor cells Numerous mono- and multinucleated tumor giant cells High degree of nuclear atypia[basicmedicalkey.com] We consistently identified numerous lipoblasts as well as micro and macrovesicular fat vacuoles in the background of cellular, pleomorphic sarcomatoid neoplasms.[ncbi.nlm.nih.gov]

    Missing: LAMP2 Protein Severely Decreased or Absent
  • Oculo-Pharyngo-Distal Myopathy

    Muscular dystrophy changes with rimmed vacuoles were the main histopathological changes.[ncbi.nlm.nih.gov] Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes.[ncbi.nlm.nih.gov] Histological features included basophilic-rimmed vacuoles, but the typical OPMD intranuclear filaments were absent.[ncbi.nlm.nih.gov]

    Missing: LAMP2 Protein Severely Decreased or Absent
  • Hemangioblastoma

    Microscopically, the neoplasm was seen to be composed of vascular channels associated with foamy stromal cells, containing clear cytoplasmic vacuoles.[ncbi.nlm.nih.gov] Tumor was composed of numerous capillaries and stromal cells with cytoplasmic vacuolization.[ncbi.nlm.nih.gov] But the tumor cells commonly show lipid cytoplasmic vacuoles; mitotic activity, infiltrative growth and vascular invasion are often identifiable.[diagnosticpathology.biomedcentral.com]

    Missing: LAMP2 Protein Severely Decreased or Absent
  • Inclusion Body Myositis

    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] Abstract OBJECTIVE: Sporadic inclusion body myositis (sIBM) pathogenesis is unknown; however, rimmed vacuoles (RVs) are a constant feature.[ncbi.nlm.nih.gov] Rimmed vacuoles were found in 49 patients (60.5%).[ncbi.nlm.nih.gov]

    Missing: LAMP2 Protein Severely Decreased or Absent
  • Toxoplasmosis

    (White bars: smooth vacuoles; grey bars: rough vacuoles, black bars: disrupted vacuoles.) Nuclei were stained with DAPI.[doi.org] During invasion Toxoplasma creates the parasitophorous vacuole, a subcellular compartment that acts as an interface between the parasite and host, and serves as a platform[doi.org] The autophagy regulator beclin 1 was concentrated in the vicinity of the parasitophorous vacuole in infected cells.[ncbi.nlm.nih.gov]

    Missing: LAMP2 Protein Severely Decreased or Absent
  • Distal Myopathy Type 3

    Tubulofilamentous inclusion, myeloid bodies, and autophagic vacuoles in the area corresponding to rimmed vacuoles ( d ; bar 1 μm).[karger.com] Yonsei Medical Journal. 2013; 54(3): 578-582 [Pubmed] 7 Distal myopathy with rimmed vacuoles and inflammation: A genetically proven case Kannan, M.A. and Challa, S. and Urtizberea[neurologyindia.com] The CK is slightly high and there are no vacuoles in the muscular biopsy.[doi.org]

    Missing: LAMP2 Protein Severely Decreased or Absent
  • Familial Visceral Myopathy

    Histologic abnormalities primarily involved smooth muscle and included marked nuclear enlargement and irregularity, interstitial fibrosis, and cytoplasmic vacuolation.[ncbi.nlm.nih.gov] Although the lesion most closely resembles progressive systemic sclerosis, the degenerating muscle cells and vacuolated appearance of the muscle serve to distinguish familial[ncbi.nlm.nih.gov] […] remnants become surrounded by collagen or as muscle cells are destroyed, leaving apparent spaces surrounded by collagen, the longitudinal and circular muscles take on a vacuolated[ncbi.nlm.nih.gov]

    Missing: LAMP2 Protein Severely Decreased or Absent
  • Hilar Cell Tumor of the Ovary

    Images hosted on PathOut server: Crystals of Reinke Cellular areas separated by anuclear eosinophilic zones Prominent fibrous stroma Fibrinoid replacement Abundant, pale, vacuolated[pathologyoutlines.com] […] demonstrated by Masson's trichrome or iron hematoxylin but frequently difficult to find, are required for the diagnosis of "Hilus or Leydig cell tumor" in ovarian tumors with vacuolated[path.upmc.edu] Leydig cell cytoplasm is densely eosinophilic and finely granular with small lipid-containing cytoplasmic vacuoles.[emedicine.medscape.com]

    Missing: LAMP2 Protein Severely Decreased or Absent

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