Primary Sjögren's syndrome (PSS) is an autoimmune disease targeting exocrine glands. It ten times more dominantly affects women than men with an onset peak at menopause. The genetic factor predisposing women to PSS remains unclear. Therefore, we aimed to identify susceptibility loci for PSS in women. We performed genome-wide association study (GWAS) using 242 female PSS patients and 1444 female control in Han Chinese population residing in Taiwan. Replication was conducted in an independent cohort of 178 female PSS and 14,432 control subjects. We identified rs117026326 on GTF2I with GWAS significance (P = 1.10 × 10) and rs13079920 on RBMS3 with suggestive significance (P = 2.90 × 10) associating with PSS in women. The association of RBMS3 was further evidenced by imputation in which rs13072846 (P = 4.89 × 10) was identified and confirmed as female PSS associating SNP within the same LD with rs13079920. PSS pathogenesis involves both immune (effector) and exocrine (target) system. We suggested that while GTF2I is a previously reported associating gene which may function in immune system, RBMS3 is a novel susceptibility gene that predisposes women to PSS potentially through modulating acinar apoptosis and TGF-β signaling in target exocrine system.
Aim:To establish guidelines for the clinical management of axial spondyloarthritis that take into account local issues and clinical practice concerns for Taiwan.
Method:Overarching principles and recommendations were established by consensus among a panel of rheumatology and rehabilitation experts, based on analysis of the most up-to-date clinical evidence and the clinical experience of panelists. AllOverarching Principles and Recommendations were graded according to the standards developed by the Oxford Centre for Evidence Based Medicine, and further evaluated and modified using the Delphi method.
Results:The guidelines specifically address issues such as local medical considerations, National Health Insurance reimbursement, and management of extra-articular manifestations.Conclusion: It is hoped that this will help to optimize clinical management outcomes for axial spondyloarthritis in Taiwan.
K E Y W O R D Sankylosing spondylitis, axial spondyloarthritis, extra-articular manifestation, IL-17 inhibitor, non-radiographic axial spondyloarthritis, spinal fracture, TNF inhibitor
A 79-year-old male with acute myelogenous leukemia developed acute right knee arthritis during admission, after the use of broad-spectrum antibiotics before chemotherapy. The initial synovial fluid sample appeared to be mildly inflammatory with a low white cell count. The fungal septic arthritis was not diagnosed until Candida tropicalis, a rare species of Candida, was isolated in the synovial fluid. Although fluconazole is effective in treating the microorganism, the untreated leukemia rendered the infection incurable and led to the growth of fluconazole-resistant Candida krusei. We reported the unusual case of fungal arthritis and reviewed the literature.
Central nervous system manifestations are rare in patients with relapsing polychondritis. We report a case of encephalitis associated with relapsing polychondritis. The patient presented with bilateral auricular chondritis first and then tracheal chondritis, and encephalitis developed. The symptoms and signs of encephalitis were felt mostly likely to be the result of vasculitis and improved dramatically after pulse corticosteroid therapy. We believe that early recognition of central nervous system involvement in relapsing polychondritis is extremely important. High-dose corticosteroids should be given to suspected cases as early as possible.
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