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Objective: To deep sequence the TRIM33 gene in tumours from patients with cancer-associated anti-TIF1γ autoantibody-positive dermatomyositis (DM) as TRIM33 somatic mutations in tumours may trigger this auto-immune disease.
Methods: Next generation sequencing of tumour DNA samples from patients with cancer-associated anti-TIF1γ autoantibody-positive DM. Fourteen tumours from 13 anti-TIF1γ autoantibody-positive DM individuals were sequenced along with two control tumours from non-DM individuals.
Results: Fourteen probable somatic variants from four tumours were identified in the TRIM33 gene.
Conclusion: These results are in accordance with the previous report of Pinal-Fernandez et al. and support the hypothesis of a role of TRIM33 gene mutations in the pathophysiology of anti-TIF1γ autoantibody-positive DM.
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http://dx.doi.org/10.1093/rheumatology/keab260 | DOI Listing |
Diabetes
September 2025
Fraternal Order of Eagles Diabetes Research Center, University of Iowa, Iowa City, IA.
Unlabelled: Type 1 diabetes (T1D) is caused by the selective autoimmune ablation of pancreatic β-cells. Emerging evidence reveals β-cell secretory dysfunction arises early in T1D development and may contribute to diseases etiology; however, the underlying mechanisms are not well understood. Our data reveal that proinflammatory cytokines elicit a complex change in the β-cell's Golgi structure and function.
View Article and Find Full Text PDFZ Rheumatol
September 2025
Medizinische Klinik V für Hämatologie, Onkologie und Rheumatologie, Sektion Rheumatologie, Universitätsklinikum Heidelberg, INF 410, 69120, Heidelberg, Deutschland.
The treatment of fibrosing autoimmune diseases has so far shown no significant progress with respect to fibrosis. The reason for this is unclear. As in vitro and in vivo data have shown that B‑lymphocytes are not only responsible for autoantibody production but also play an important role in the activation of fibroblasts in an inflammatory event, depletion of B cells is meaningful in these fibrosing autoimmune diseases.
View Article and Find Full Text PDFAnal Chem
August 2025
The Department of Pharmaceutical Sciences, University at Buffalo, Buffalo, New York 14214, United States.
Accurately measuring circulating proinsulin proteoforms is crucial for clinical investigation of diabetes, but was previously not feasible owing to limited assay specificity/sensitivity. Here we devised a highly sensitive LC-MS-based strategy to quantify intact proinsulin, des-31,32 and des-64,65 proinsulin, and C-peptide in circulation. The method involves: (i) quantitative, robust affinity capture using an optimized antibody cocktail, eliminating the severe quantitative bias across multiple proteoforms typically introduced when using a single antibody; (ii) Lys-C digestion producing unique signature peptides for each proteoform, and (iii) trapping-nano-LC coupled with FAIMS/dCV-MS for an ultrasensitive analysis.
View Article and Find Full Text PDFRinsho Shinkeigaku
August 2025
Department of Neurology, National Hospital Organization Sendai Medical Center.
A 72-year-old woman with limb weakness was admitted to our hospital. Her symptoms began just one month prior to presentation and showed gradual progression, leading to difficulties in physical movement. She had undergone breast cancer surgery at the age of 70 years.
View Article and Find Full Text PDFJ Family Med Prim Care
July 2025
Pediatrician, Department of Pediatrics, Consultant Pediatrician, Lily Mission Hospital, Madurai, Tamil Nadu, India.
Introduction: Immune-mediated diseases can affect any part of the body of genetically susceptible individuals. Few diseases predominantly affect a single organ, while others present with multisystemic manifestations.
Methods: We collected data on the clinical, demographic, and immunological details of children with immune-mediated diseases presenting over a period of three years from January 2020 to December 2022 retrospectively from the children enrolled in Pediatric immunology clinic of a tertiary care hospital in South India.