Scapular winging in inclusion body myositis
We present photographs of three patients with prominent scapular winging as part of their clinical presentation of otherwise typical inclusion body myositis (IBM). We propose that this previously unreported feature of IBM should not put clinicians off the diagnosis if the clinical presentation is otherwise consistent. (Source: Neuromuscular Disorders)
Source: Neuromuscular Disorders - April 17, 2023 Category: Neurology Authors: Louisa Kent, Stefen Brady Tags: Picture of the month Source Type: research
Advances in the Therapeutic Potential of Inhibitors Targeting Glycogen Synthase Kinase 3 in Inflammatory Diseases
In this study, we analyzed nearly 30 different small-molecule GSK3 inhibitors reported in the past 4 years and classified them into four categories (thiazole, pyridine, F-substituted benzene, and others) according to their structure to conduct further literature research. Moreover, we summarized the optimal compounds and described the process of transformation from the lead compound to the optimal compound. In addition, we aimed to summarize the role of GSK3 in the pathogenesis of inflammatory diseases, with insights into the recent progress in the discovery of GSK3 inhibitors.PMID:37055897 | DOI:10.2174/138955752366623041...
Source: Mini Reviews in Medicinal Chemistry - April 14, 2023 Category: Chemistry Authors: Yifan Zhu Hui Wang Yueyue Guo Jie Cao Huanqiu Li Source Type: research
Advances in the Therapeutic Potential of Inhibitors Targeting Glycogen Synthase Kinase 3 in Inflammatory Diseases
In this study, we analyzed nearly 30 different small-molecule GSK3 inhibitors reported in the past 4 years and classified them into four categories (thiazole, pyridine, F-substituted benzene, and others) according to their structure to conduct further literature research. Moreover, we summarized the optimal compounds and described the process of transformation from the lead compound to the optimal compound. In addition, we aimed to summarize the role of GSK3 in the pathogenesis of inflammatory diseases, with insights into the recent progress in the discovery of GSK3 inhibitors.PMID:37055897 | DOI:10.2174/138955752366623041...
Source: Mini Reviews in Medicinal Chemistry - April 14, 2023 Category: Chemistry Authors: Yifan Zhu Hui Wang Yueyue Guo Jie Cao Huanqiu Li Source Type: research
Clinical significance of anti-NT5c1A autoantibody in Korean patients with inflammatory myopathies
by Seung-Ah Lee, Hyun Joon Lee, Bum Chun Suh, Ha Young Shin, Seung Woo Kim, Byeol-A Yoon, Young-Chul Choi, Hyung Jun Park
To explore the clinical significance of anti-cytosolic 5’-nucleoditase 1A (NT5c1A) antibody seropositivity in inflammatory myopathies, we measured anti-NT5c1A antibodies and analyzed their clinical features. Anti-NT5c1A antibodies were measured in the sera of 103 patients with inflammatory myopa thies using an enzyme-linked immunosorbent assay. Positivity for anti-NT5c1A antibody was found in 13 (12.6%) of 103 patients with inflammatory myopathy. Anti-NT5c1A antibody was most frequently identified in...
Source: PLoS One - April 14, 2023 Category: Biomedical Science Authors: Seung-Ah Lee Source Type: research
Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP ‐related multisystem proteinopathy
ConclusionOur finding of novel variants expanded the mutational spectrum of theVCP gene. This cohort of Chinese patients withVCP mutations mainly present with inclusion body myopathy with predominant limb –girdle distribution. The characteristic pattern of fatty infiltration, especially the “isolated island” and “contra-isolated island” on muscle MRI, along with rimmed vacuoles in muscle biopsy, provides valuable clues for guiding genetic diagnostic workup. (Source: Molecular Genetics & Genomic Medicine)
Source: Molecular Genetics & Genomic Medicine - April 1, 2023 Category: Genetics & Stem Cells Authors: Yalan Wan,
Qi Wang,
Yiming Zheng,
Meng Yu,
Zhiying Xie,
Chen Ling,
Lingchao Meng,
Jiaxi Yu,
Yilei Zheng,
Yikang Wang,
Wenhao Zhang,
Chang Liu,
Yawen Zhao,
Yun Yuan,
Jianwen Deng,
Qiang Gang,
Zhaoxia Wang Tags: ORIGINAL ARTICLE Source Type: research
Novel variants, muscle imaging, and myopathological changes in Chinese patients with VCP-related multisystem proteinopathy
CONCLUSION: Our finding of novel variants expanded the mutational spectrum of the VCP gene. This cohort of Chinese patients with VCP mutations mainly present with inclusion body myopathy with predominant limb-girdle distribution. The characteristic pattern of fatty infiltration, especially the "isolated island" and "contra-isolated island" on muscle MRI, along with rimmed vacuoles in muscle biopsy, provides valuable clues for guiding genetic diagnostic workup.PMID:37002192 | DOI:10.1002/mgg3.2176 (Source: Molecular Medicine)
Source: Molecular Medicine - March 31, 2023 Category: Molecular Biology Authors: Yalan Wan Qi Wang Yiming Zheng Meng Yu Zhiying Xie Chen Ling Lingchao Meng Jiaxi Yu Yilei Zheng Yikang Wang Wenhao Zhang Chang Liu Yawen Zhao Yun Yuan Jianwen Deng Qiang Gang Zhaoxia Wang Source Type: research
VCP-related myopathy: a case series and a review of literature
We describe phenotypic and genetic findings of five patients with four different mutations in VCP gene (NM_007126): c.278G > A (p.R93H), c.463C > T (p.R155C), c.410C > T (p.P137L), c.464G > A (p.R155H), c.410C > T (p.P137L). We analysed the patient' biopsies, all characterized by a muscular phenotype, and we executed immunofluorescence staining to evaluate the presence of proteins: p62, VCP, desmin, myotilin, TDP-43. Eventually we performed a brief literature review to compare our cases with those already reported. Our report strongly suggest that VCP gene mutations can be related with a predominant skeletal...
Source: Acta Myologica - March 31, 2023 Category: Neurology Authors: Eliana Iannibelli Sara Gibertini Marta Cheli Flavia Blasevich Andrea Cavaliere Giorgia Riolo Alessandra Ruggieri Lorenzo Maggi Source Type: research
C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD
AbstractNeuronal TDP-43-positive inclusions are neuropathological hallmark lesions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Pathogenic missense variants inTARDBP, the gene encoding TDP-43, can cause ALS and cluster in the C-terminal prion-like domain (PrLD), where they modulate the liquid condensation and aggregation properties of the protein. TDP-43-positive inclusions are also found in rimmed vacuole myopathies, including sporadic inclusion body myositis, but myopathy-causing TDP-43 variants have not been reported. Using genome-wide linkage analysis and whole exome sequencing in an extend...
Source: Acta Neuropathologica - March 31, 2023 Category: Neurology Source Type: research
Uncovering the significance of expanded CD8+ large granular lymphocytes in inclusion body myositis: Insights into T cell phenotype and functional alterations, and disease severity
ConclusionAltogether, these results suggest that T-LGL expansion occurring in IBM patients is correlated with exacerbated immune dysregulation and increased disease burden. (Source: Frontiers in Immunology)
Source: Frontiers in Immunology - March 30, 2023 Category: Allergy & Immunology Source Type: research
Identification of Novel Associations and Localization of Signals in Idiopathic Inflammatory Myopathies Using Genome ‐Wide Imputation
ConclusionWe found novel and strong associations in IIM and PM and localized signals to single genes and immune cell types. (Source: Arthritis and Rheumatology)
Source: Arthritis and Rheumatology - March 21, 2023 Category: Rheumatology Authors: Simon Rothwell,
Christopher I. Amos,
Frederick W. Miller,
Lisa G. Rider,
Ingrid E. Lundberg,
Peter K. Gregersen,
Jiri Vencovsky,
Neil McHugh,
Vidya Limaye,
Albert Selva ‐O'Callaghan,
Michael G. Hanna,
Pedro M. Machado,
Lauren M. Pachman,
An Tags: Brief Report Source Type: research
Overlap syndrome with antibodies against multiple transfer-RNA components presenting antisynthetase syndrome
Idiopathic inflammatory myopathy (myositis) is classified into four major subsets based on clinical presentation, myopathology, and autoantibodies: inclusion body myositis, immune-mediated necrotizing myopathy, dermatomyositis, and antisynthetase syndrome [1,2]. Overlap syndrome is a clinical entity of myositis accompanied by one or more collagen diseases such as systemic lupus erythematosus, systemic sclerosis, and rheumatoid arthritis [3]. Whether the muscle histopathology of overlap syndrome falls into one of these four subsets or presents specific features different from any of them has not been determined. (Source: Ne...
Source: Neuromuscular Disorders - March 16, 2023 Category: Neurology Authors: Haruhiko Motegi, Yohei Kirino, Ryoji Morishita, Ichizo Nishino, Shigeaki Suzuki Tags: Case report Source Type: research
Genes, Vol. 14, Pages 676: Novel Variants in the VCP Gene Causing Multisystem Proteinopathy 1
We report the clinical and genetic analysis findings in five patients, three from the same family, with novel VCP gene variants: NM_007126.5 c.1106T>C (p.I369T), c.478G>A (p.A160T), and c.760A>T (p.I254F), associated with cardinal MSP1 manifestations including myopathy, PDB, and FTD. Our report adds to the spectrum of heterozygous pathogenic variants found in the VCP gene and the high degree of clinical heterogeneity. This case series prompts increased awareness and early consideration of MSP1 in the differential diagnosis of myopathies and/or PDB, dementia, or ALS to improve the diagnosis ...
Source: Genes - March 8, 2023 Category: Genetics & Stem Cells Authors: Rod Carlo Agram Columbres Yue Chin Sanjana Pratti Colin Quinn Luis F. Gonzalez-Cuyar Michael Weiss Fabiola Quintero-Rivera Virginia Kimonis Tags: Article Source Type: research
Two emerging phenotypes of atypical inclusion body myositis: illustrative cases
CONCLUSIONS: Despite the classical phenotype described within the literature IBM can present in a heterogenous fashion. It is important to recognise IBM in younger patients and investigate for specific associations. The described pattern of facial diplegia, severe dysphagia, bulbar dysfunction and respiratory failure in female IBM patients requires further characterisation. Patients with this clinical pattern may require more complex and supportive management. Macroglossia is a potentially under recognised feature of IBM. The presence of macroglossia in IBM warrants further study, as its presence may lead to unnecessary in...
Source: Clinical and Experimental Rheumatology - March 2, 2023 Category: Rheumatology Authors: Sharfaraz Salam Jasper M Morrow Robin Howard James A L Miller Ros M Quinlivan Pedro M Machado Source Type: research
