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Genome-wide association study of anterior uveitis.

Br J Ophthalmol

December 2024

Department of Ophthalmology and Medical Research Center, Oulu University Hospital; Research Unit of Clinical Medicine, University of Oulu, Oulu, Finland.

Background/aims: The purpose of this study is to define genetic factors associated with anterior uveitis through genome-wide association study (GWAS).

Methods: In this GWAS meta-analysis, we combined data from the FinnGen, Estonian Biobank and UK Biobank with a total of 12 205 anterior uveitis cases and 917 145 controls. We performed a phenome-wide association study (PheWAS) to investigate associations across phenotypes and traits.

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Purpose Of Review: The canonical pathogenesis of spondyloarthritis (SpA) involves inflammation driven by HLA-B27, type 3 immunity, and gut microbial dysregulation. This review based on information presented at the SPARTAN meeting highlights studies on the pathogenesis of SpA from the past year, focusing on emerging mechanisms such as the roles of microbe-derived metabolites, microRNAs (miRNAs) and cytokines in plasma exosomes, specific T cell subsets, and neutrophils.

Recent Findings: The induction of arthritis in a preclinical model through microbiota-driven alterations in tryptophan catabolism provides new insights as to how intestinal dysbiosis may activate disease via the gut-joint axis.

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Background: Autoimmune disorders have primary manifestations such as joint pain and bowel inflammation but can also have secondary manifestations such as non-infectious uveitis (NIU). A regulatory health authority raised concerns after receiving spontaneous reports for NIU following exposure to Remicade, a biologic therapy with multiple indications for which alternative therapies are available. In assessment of this clinical question, we applied validity diagnostics to support observational data causal inferences.

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Ankylosing Spondylitis (AS) and Systemic Sclerosis (SSc) are both autoimmune diseases, albeit with distinct anatomical targets. AS primarily affects the spine and sacroiliac joints, triggering inflammation and eventual fusion of the vertebrae. SSc predominantly impacts the skin and connective tissues, leading to skin fibrosis, thickening, and potential damage to vital organs such as the lungs, heart, and kidneys.

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Background: This study aimed to report the mid-term functional outcomes of total hip arthroplasty (THA) for the treatment of advanced hip involvement in ankylosing spondylitis (AS) and identify the factors associated with poor hip flexion range of motion (ROM) after THA in patients with AS.

Methods: We retrospectively investigated the mid-term functional outcomes in 313 AS patients (538 hips) who underwent primary THA from 2012 to 2017, with a mean follow-up of 7 years (range, 4-9 years). Postoperative functional outcomes were assessed by hip flexion ROM, Harris hip score (HHS), and the Western Ontario and McMaster Universities Arthritis Index (WOMAC).

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