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562. Phenotypes of patients with more than one autoinflammatory disease-associated gene variant: overlapping and mixed autoinflammatory disorders.
作者: Shirkhan Amikishiyev.;Tuğba Kalaycı.;Rabia Deniz.;Lale Soltanova.;Bersan Sen.;Yasemin Yalçınkaya.;Bahar Artım Esen.;Murat Inanc.;Ayla Sahin.;Aynur Aday.;Sema Sırma Ekmekci.;Neslihan Abacı.;Sukru Ozturk.;Sukru Palanduz.;Ahmet Gül.
来源: Rheumatology (Oxford). 2026年65卷2期
Genetic screening for systemic autoinflammatory disorders (SAIDs) often does not yield a definite diagnosis based on pathogenic variants. Instead, many patients are found to carry combinations of variants of uncertain significance (VUS), either in isolation or alongside pathogenic or likely pathogenic variants. We herein aimed to investigate the relationship between clinical phenotypes and genotypes in patients identified as carriers of variants in ≥2 autoinflammatory genes.
563. Clinician views concerning the prevalence and impact of granulomas on the diagnosis, management, and outcomes of ANCA-associated vasculitis.
作者: Mats Junek.;Lynn A Fussner.;Arielle Mendel.;David Jayne.;Peter A Merkel.;Michael Walsh.
来源: Rheumatology (Oxford). 2026年65卷2期
It is unclear whether clinicians agree which manifestations of ANCA-associated vasculitides (AAV) is associated with necrotizing granulomas or if their presence affects clinical decision-making.
565. Infant-onset juvenile idiopathic arthritis: a multicentre retrospective study.
作者: Timmy Strauss.;Jens Klotsche.;Daniel Windschall.;Anthony Sprengel.;Manuela Krumrey-Langkammerer.;Stefanie Dollinger.;Johannes-Peter Haas.;Klaus Tenbrock.;Ralf Trauzeddel.;Hermann Girschick.;Georg Heubner.;Prasad T Oommen.;Markus Hufnagel.;Mirjam Freudenhammer.;Frank Dressler.;Anna Raab.;Gregor Dückers.;Rainer Behrendes.;Christian Klemann.;Annette Jansson.;Gerd Horneff.;Ariane Klein.;Angela Zimmer.;Anton Hospach.;Jasmin Kümmerle-Deschner.;Annette Holl-Wieden.;Normi Brück.;Kirsten Minden.;Catharina Schuetz.; .
来源: Rheumatology (Oxford). 2026年65卷2期
Juvenile idiopathic arthritis (JIA) in infants is extremely rare, making diagnosis particularly challenging. This study examines the characteristics of JIA in infancy, including early symptoms, time to diagnosis, JIA categories, treatment approaches and clinical outcomes.
566. The PTPN22 R620W polymorphism is associated with inclusion body myositis: data from the UKMyoNet study.
作者: Yuhui Li.;Gang Chen.;Neil J McHugh.;Sarah L Tansley.;James B Lilleker.;Choon-Guan Chua.;Janine A Lamb.;Hector Chinoy.; .
来源: Rheumatology (Oxford). 2026年65卷2期 567. Risk of urinary tract infections associated with SGLT2 inhibitor use in patients with RA: a target trial emulation study.
作者: Naofumi Dobashi.;Ken-Ei Sada.;Masataka Kudo.;Shigemi Morishita.;Sho Sasaki.;Narufumi Suganuma.
来源: Rheumatology (Oxford). 2026年65卷2期
This study aimed to describe annual trends in sodium-glucose cotransporter-2 inhibitor (SGLT2i) prescriptions among patients with RA and diabetes mellitus (DM), and to assess whether SGLT2i use increases urinary tract infection (UTI) risk, emulating a target trial.
568. Disease phenotype and management of axial psoriatic arthritis in Japan compared with other regions, particularly other Asian countries: results of the ASAS-PerSpA study.
作者: Haruki Sawada.;Mitsumasa Kishimoto.;Kurisu Tada.;Gautam A Deshpande.;Daiki Kobayashi.;Masato Okada.;Diego Benavent.;Chamaida Plasencia-Rodriguez.;Victoria Navarro-Compán.;Clementina López-Medina.;Anna Molto.;Maxime Dougados.;Naoto Tamura.
来源: BMC Rheumatol. 2025年9卷1期130页
This study evaluated the disease phenotype and treatment of axial psoriatic arthritis among patients from Japan compared with those from different geographic regions.
569. Imbalance between serum DNase-I protein levels and enzymatic activity in SLE: link with mitochondrial-DNA and low-density granulocytes.
作者: Uxía Tobío-Parada.;Javier Rodríguez-Carrio.;Aleida Martínez-Zapico.;Ángel I Pérez-Álvarez.;Silvia Suárez-Díaz.;Ana Suárez.;Patricia López.
来源: Rheumatology (Oxford). 2026年65卷2期
To analyze the role of DNase-I and its main regulatory factors controlling the cirDNA degradation, in relation to LDG subsets in SLE.
570. Addressing clinical challenges in ANCA-associated vasculitis with real-world evidence.
Key challenges in the management of ANCA-associated vasculitis (AAV) include the need to achieve more rapid and sustained remission, reduce exposure to glucocorticoids (GC) and reliably monitor and predict treatment response. Clinical trials in patients receiving rituximab or cyclophosphamide for AAV show that the adjunctive use of avacopan (a novel complement 5a receptor 1 [C5aR1] antagonist) for up to 1 year enables sustained AAV remission, considerable reductions in GC exposure, and greater recovery of kidney function, especially in patients with acute kidney injury. Additional real-world evidence suggests avacopan can be used to replace GC in patients with GC toxicity and supports the use of avacopan in AAV patients with rapidly progressing glomerulonephritis, pulmonary hemorrhage and/or refractory AAV. Future studies are needed to investigate the benefits of extending avacopan treatment beyond 1 year and in specific populations.
572. Impact of HLA-DRB1 SE, anti-citrullinated protein antibodies and smoking on radiographic outcome in Greek patients with Rheumatoid Arthritis.
作者: Evangelia N Mole.;Katerina Tarassi.;Alexandra Tsirogianni.;Theophilos Athanassiades.;Vasiliki Kitsiou.;Diamanto Kouniaki.;Sousana Gazi.;Panagiotis Vlachoyiannopoulos.
来源: BMC Rheumatol. 2025年9卷1期128页
Rheumatoid arthritis (RA) is a complex, multifactorial autoimmune disease, whose aetiopathogenesis involves genetic and environmental factors. It remains unclear whether these factors influence the radiographic damage in RA patients. In this study we aimed to investigate the main effects of shared epitope (SE) alleles, smoking and anti-citrullinated protein antibodies (ACPAs), as well as their possible interaction on the radiographic outcome, in Greek patients with longstanding RA.
573. Gastrointestinal involvement in granulomatosis with polyangiitis: frequency, clinical impact, and prognostic implications in a retrospective cohort study.
作者: Goli Siri.;Seyed Farshad Allameh.;Mahsa Heidari-Foroozan.;Abdolreza Raee.;Mohammad Sadidi.;Mahgol Meshkati.
来源: BMC Rheumatol. 2025年9卷1期129页
Granulomatosis with polyangiitis (GPA) is a rare form of antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis that can involve multiple organ systems, including the gastrointestinal (GI) tract. Although GI manifestations are relatively uncommon, they may be associated with serious complications and adverse outcomes. This study aimed to assess the frequency and types of GI involvement in patients with GPA and to examine their relationship with disease severity, prognosis, and treatment response.
574. Fetal and maternal outcome in the pregnancies of patients with systemic sclerosis and very early diagnosis of systemic sclerosis in France: a prospective study.
作者: Anne Murarasu.;Lauren Beaudeau.;Veronique Le Guern.;Gaelle Guettrot-Imbert.;Claire Cazalets.;Cécile Durant.;Cécile Yelnik.;Céline Lartigau Roussin.;Marie-Charlotte Besse.;Emilie Berthoux.;Emmanuel Chatelus.;Eric Hachulla.;Estibaliz Lazaro.;Francois Maurier.;Gaëlle Leroux.;Gregory Pugnet.;Isabelle Durieu.;Loic Raffray.;Maelle Le Besnerais.;Mélanie Roriz.;Odile Souchaud Debouverie.;Patrick Jego.;Pauline Orquevaux.;Claire De Moreuil.;Helene Maillard.;Nathalie Morel.;Anna Molto.;Camille Le Ray.;Emmanuelle Pannier.;Loïc Sentilhes.;Luc Mouthon.;Nathalie Costedoat-Chalumeau.;Benjamin Chaigne.; .
来源: Lancet Rheumatol. 2026年8卷1期e33-e41页
Prospective data on pregnancies in systemic sclerosis are scarce. We aimed to examine the frequency of adverse pregnancy outcomes and maternal disease progression in systemic sclerosis, as well as the factors that predict these events.
577. Lupus enteritis and peritonitis as a first presentation of systemic lupus erythematosus: a case report.
作者: Bashar Kamal Ali Douden.;Nouraldin Hashlamon.;Mahmoud Al-Zaro.;Mahmood Fayiz Ali Al-Drabeeh.;Mohammad Halayqa.;Sufyan Hroub.;Saed Atawnah.
来源: BMC Rheumatol. 2025年9卷1期127页
SLE is a chronic autoimmune illness that affects several systems. Gastrointestinal abnormalities, although uncommon, can be dangerous and frequently go undiagnosed due to vague symptoms. Lupus enteritis and peritonitis are serious consequences. Lupus enteritis affects up to 9.7% of SLE patients and causes stomach discomfort, nausea, and diarrhea. It frequently involves intestinal vasculitis, which results in gut wall thickening and, in extreme instances, ischemia or perforation. Lupus peritonitis is very uncommon. Differentiating them from other causes of stomach discomfort is critical. This case emphasizes the diagnostic problems, imaging results, and the significance of early, focused therapy for better outcomes.
580. Incidence and risk of nephrolithiasis with uricosuric therapies for the treatment of gout: a systematic review and meta-analysis of randomized controlled trials and cohort studies.
作者: Chanaka Dahanayake.;Ram Bajpai.;Mark Lambie.;Kelsey M Jordan.;Edward Roddy.
来源: Rheumatology (Oxford). 2026年65卷2期
To assess the incidence and risk of nephrolithiasis in people receiving uricosuric therapies for gout.
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