Publications by authors named "Anna Nishimura"
Differentiating idiopathic inflammatory myopathies by automated morphometric analysis of MHC-1, MHC-2 and ICAM-1 in muscle tissue.
Neuropathol Appl Neurobiol
August 2024
Article Synopsis
- - The study focuses on improving the diagnosis of idiopathic inflammatory myopathies (IIM) by quantifying key proteins (MHC-1, MHC-2, ICAM-1) using an automated method to reduce biases associated with traditional diagnostic approaches.
- - Researchers conducted double immunofluorescence staining and RNA sequencing on muscle biopsies from various IIM subtypes, finding distinct immunological profiles and confirming the effectiveness of their method through RNA-Seq results.
- - Results indicate that ICAM-1 is particularly significant for diagnosis, showing high sensitivity and specificity in differentiating IIM subtypes, and the study suggests that automated analysis can enhance the understanding of these diseases.
Distribution of ferritin complex in the adult brain and altered composition in neuroferritinopathy due to a novel variant in the ferritin heavy chain gene FTH1 (c.409_410del; p.H137Lfs*4).
Brain Pathol
January 2024
Background And Objective: To characterize morphological and molecular underpinnings of polymyositis with mitochondrial pathology (PM-Mito) in comparison with sporadic inclusion body myositis (IBM) and to define common and distinct pathophysiologic features with a focus on interferon (IFN)-associated inflammation and T-cell response.
Methods: In this cross-sectional study, skeletal muscle biopsy samples and clinical and laboratory data from patients with PM-Mito and IBM were analyzed at Charité university hospital in Berlin, Germany. All available PM-Mito biopsy samples, an equal number of randomly selected IBM biopsy samples, and randomly selected nondiseased controls (NDCs) were included in the study.
Popeye domain containing protein 1 (POPDC1) is a highly conserved transmembrane protein essential for striated muscle function and homeostasis. Pathogenic variants in the gene encoding POPDC1 (BVES, Blood vessel epicardial substance) are causative for limb-girdle muscular dystrophy (LGMDR25), associated with cardiac arrhythmia. We report on four affected children (age 7-19 years) from two consanguineous families with two novel pathogenic variants in BVES c.
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