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Cardiac Hypertrophy, Heart Failure and Cardiomyopathy
Published in Mary N. Sheppard, Practical Cardiovascular Pathology, 2022
A number of other genes can cause thick-walled, small cavity left ventricles with myocardial disarray which simulate almost exactly the appearances of those due to sarcolemmal cardiomyopathy genes described above. In desmin myopathy, the disease is mainly expressed in skeletal muscle, but cardiac involvement does occur and, in rare families, cardiac involvement is predominant. The features are exactly as described above, with the addition that myocytes contain eosinophilic conglomerates of fibrillary material staining by immunohistochemistry for desmin. The similarity of the disease to the known HCM genes is not surprising since myofibril formation is abnormal.
Axial Myopathy
Published in Maher Kurdi, Neuromuscular Pathology Made Easy, 2021
The most well-known diseases predominantly affecting axial muscles are selenoprotein deficiency due to SNP1 and lamin A/C gene mutations. Heterozygous mutations in the skeletal muscle (RYR-1) that encode Ryanodine receptor-1 have recently been recognized as a rare novel entity associated with predominant axial myopathy. It is a late-onset condition associated with bent spine syndrome, camptocormia, proximal weakness, and lordosis. Pathologically, it is characterized by myopathic features, scattered cores, desmin aggregation, and mitochondrial abnormalities (Figure 22.2).
Vimentin and Desmin
Published in Masahiko Mori, Histochemistry of the Salivary Glands, 2019
Desmin is a well-known marker for muscle tissue; however, coexpression of desmin and vimentin has been reported in muscular structures, including chicken myoblasts during myogenesis,25 aortic smooth muscle cells and vascular smooth muscle cells,26–29 and vimentin and α-actin in vascular smooth muscle cells.30 In rhabdomyosarcomas, coexpression of desmin and vimentin has been noted in the childhood type.31–33 Spindle or dendritical tumor cells in pleomorphic adenomas (from myoepithelial origin) stained irregularly positive for vimentin and negative to desmin, which indicated mesenchymal properties. Irrespective of positive staining for actin and myosin in modified neoplastic myoepithelial cells and outer tumor cells of duct-like structures of pleomorphic adenomas, immunohistochemical staining of those myoepithelially derived cells manifested coexpression of keratin, vimentin, S-100 protein, and/or GFAP.
Factors associated with non-lifting of colorectal mucosal lesions
Published in Scandinavian Journal of Gastroenterology, 2023
Jiang-Ping Yu, Shao-Peng Yang, Rong-Wei Ruan, Sheng-Sen Chen, Yan-Dong Li, Hai-Bin Lou, Shi Wang
To further investigate factors affecting the non-lifting sign, we analyzed the pathological features of 29 non-lifting lesions. As shown in Table 3, only four cases had submucosal invasion, in which most three cases were SM2 and one case was SM3. Sixteen non-lifting lesions had submucosal fibrosis based on intraoperative findings and H&E staining (Figure 2). During dissection of the submucosa, we observed that muscle fibers from the deeper layers extended into the submucosa (Figure 3(a)). Desmin as a smooth muscle cells marker was evenly expressed throughout myofibers. Muscle fibers from the muscularis propria extend into the submucosa and muscularis mucosae as shown in immunohistochemical staining result (Figure 3). Histologic examination showed that there were 9 lesions of MMPA.
Encapsulation of bone marrow-MSCs in PRP-derived fibrin microbeads and preliminary evaluation in a volumetric muscle loss injury rat model: modular muscle tissue engineering
Published in Artificial Cells, Nanomedicine, and Biotechnology, 2019
Özge Lalegül-Ülker, Şükran Şeker, Ayşe Eser Elçin, Yaşar Murat Elçin
Immunohistochemical analyses supported the findings obtained from the histochemical and semi-quantitative histomorphological assessments. Representative anti-Desmin-stained sections of the muscle explants retrieved from subjects with VML injury at 30, 60 and 180 days post-transplantation are given in Figure 8. At 30, 60 and 180 days post-surgery, the myogenic marker Desmin was detected at different levels in the tissue sections demonstrating the regeneration of the muscle. Desmin immunoreactivity was weak in the Sham group demonstrating that the myogenic response is limited. However, in the FM-R transplantation groups, Desmin immunoreactivity was high in regions in close proximity to the injured muscle showing that the regeneration levels of both the MSC-devoid and MSC-encapsulated FM-R groups were high.
Gene therapy strategies for X-linked myotubular myopathy
Published in Expert Opinion on Orphan Drugs, 2018
The lipid phosphatase activity of myotubularin and the role of phosphoinositides in membrane maintenance are important; however, it seems that it cannot account for all of the features of XLMTM. The phenotype of the Mtm1 knockout mouse can be partially rescued by overexpression of myotubularin that lacks phosphatase activity, and these animals showed increased generation of muscle force, yet they also exhibited other features of XLMTM, such as decreased myofiber size and increased numbers of myofibers with central nuclei [31]. These functions of myotubularin appear to be at least partially independent of lipid phosphatase activity and might be due to essential interactions myotubularin has with other skeletal muscle-specific proteins [18]. Desmin, an intermediate filament protein, is a myotubularin interacting protein [32]. Desmin appears to be involved in the regulation of organelle localization within myofibers [32,33]. Dynamin 2 is another myotubularin interacting protein, and when Dynamin 2 expression was reduced in an XLMTM model, it resulted in improved muscle strength, less myofiber atrophy, fewer central nuclei, and less structural alteration in triads [34]. These studies show that myotubularin’s role in muscle function and structure extends beyond its lipid phosphatase activity.