2502. Low-frequency and rare genetic variants associated with rheumatoid arthritis risk.
作者: Vanessa L Kronzer.;Jeffrey A Sparks.;Soumya Raychaudhuri.;James R Cerhan.
来源: Nat Rev Rheumatol. 2024年20卷5期290-300页
Rheumatoid arthritis (RA) has an estimated heritability of nearly 50%, which is particularly high in seropositive RA. HLA alleles account for a large proportion of this heritability, in addition to many common single-nucleotide polymorphisms with smaller individual effects. Low-frequency and rare variants, such as those captured by next-generation sequencing, can also have a large role in heritability in some individuals. Rare variant discovery has informed the development of drugs such as inhibitors of PCSK9 and Janus kinases. Some 34 low-frequency and rare variants are currently associated with RA risk. One variant (19:10352442G>C in TYK2) was identified in five separate studies, and might therefore represent a promising therapeutic target. Following a set of best practices in future studies, including studying diverse populations, using large sample sizes, validating RA and serostatus, replicating findings, adjusting for other variants and performing functional assessment, could help to ensure the relevance of identified variants. Exciting opportunities are now on the horizon for genetics in RA, including larger datasets and consortia, whole-genome sequencing and direct applications of findings in the management, and especially treatment, of RA.
2504. Capi-score: a quantitative algorithm for identifying disease patterns in nailfold videocapillaroscopy.
作者: Borja Del Carmelo Gracia Tello.;Luis Sáez Comet.;Gema Lledó.;Mayka Freire Dapena.;Miguel Antonio Mesa.;Miguel Martín-Cascón.;Alfredo Guillén Del Castillo.;Elena Martínez Robles.;Carmen Pilar Simeón-Aznar.;Jose Antonio Todolí Parra.;Diana Cristina Varela.;Genessis Maldonado Vélez.;Adela Marín Ballvé.;Jimena Aramburu Llorente.;Laura Pérez Abad.;Eduardo Ramos Ibáñez.
来源: Rheumatology (Oxford). 2024年63卷12期3315-3321页
EULAR supports the use of nailfold videocapillaroscopy (NVC) for identifying disease patterns (DPs) associated with SSc and RP. Recently, EULAR proposed an easy-to-manage procedure, a so-called Fast Track algorithm, for differentiating SSc patterns from non-SSc patterns in NVC specimens. However, subjectivity among capillaroscopists remains a limitation. Our aim was to perform a software-based analysis of NVC peculiarities in a cohort of samples from SSc and RP patients and, subsequently, build a Fast Track-inspired algorithm for identifying DPs without the constraint of interobserver variability.
2505. The worldwide prevalence of psoriatic arthritis-a systematic review and meta-analysis.
作者: Stephanie Lembke.;Gary J Macfarlane.;Gareth T Jones.
来源: Rheumatology (Oxford). 2024年63卷12期3211-3220页
Previous attempts to pool prevalence studies in PsA have failed to take account of important methodological differences between studies that may have created biased estimates. The aim of this review is to estimate the prevalence of PsA within the adult general population worldwide, considering potential differences between population-based and health administrative studies separately.
2506. Effects of interleukin-6 signal inhibition on Treg subpopulations and association of Tregs with clinical outcomes in rheumatoid arthritis.
作者: Hiroto Yoshida.;Mayu Magi.;Hiroya Tamai.;Jun Kikuchi.;Keiko Yoshimoto.;Kotaro Otomo.;Yoshihiro Matsumoto.;Mariko Noguchi-Sasaki.;Tsutomu Takeuchi.;Yuko Kaneko.
来源: Rheumatology (Oxford). 2024年63卷9期2515-2524页
Anti-IL-6 receptor antibodies are clinically efficacious in the management of RA with an associated increase in Tregs; however, the role of functional Treg subsets has yet to be clarified. This study aimed to evaluate how functional Treg subsets are altered by IL-6 receptor blockade and to analyse the relationship between these Treg subsets and the clinical outcome of RA.
2507. Extrarenal symptoms associate with worse quality of life in patients enrolled in the AMP RA/SLE Lupus Nephritis Network.
作者: Philip M Carlucci.;Katherine Preisinger.;Kristina K Deonaraine.;Devyn Zaminski.;Maria Dall'Era.;Heather T Gold.;Kenneth Kalunian.;Andrea Fava.;H Michael Belmont.;Ming Wu.;Chaim Putterman.;Jennifer Anolik.;Jennifer L Barnas.;Richard Furie.;Betty Diamond.;Anne Davidson.;David Wofsy.;Diane Kamen.;Judith A James.;Joel M Guthridge.;William Apruzzese.;Deepak Rao.;Michael H Weisman.;Peter M Izmirly.;Jill Buyon.;Michelle Petri.; .
来源: Rheumatology (Oxford). 2025年64卷3期1193-1200页
Lupus nephritis (LN) can occur as an isolated component of disease activity or be accompanied by diverse extrarenal manifestations. Whether isolated renal disease is sufficient to decrease health-related quality of life (HRQOL) remains unknown. This study compared Patient-Reported Outcomes Measurement Information System 29-Item (PROMIS-29) scores in LN patients with isolated renal disease to those with extrarenal symptoms to evaluate the burden of LN on HRQOL and inform future LN clinical trials incorporating HRQOL outcomes.
2509. Economic evaluation of a trial exploring the effects of a web-based support tool for parents of children with juvenile idiopathic arthritis.
作者: Chris Flood.;Shashivadan P Hirani.;Kathleen Mulligan.;Jo Taylor.;Sally Harris.;Lucy R Wedderburn.;Stanton P Newman.
来源: Rheumatology (Oxford). 2024年63卷SI2期SI136-SI142页
To explore the cost-effectiveness of a web-based support tool for parents of children with Juvenile idiopathic arthritis.
2510. Neuropsychiatric symptoms in systemic lupus erythematosus: mixed methods analysis of patient-derived attributional evidence in the international INSPIRE project.
作者: Melanie Sloan.;Thomas A Pollak.;Efthalia Massou.;Guy Leschziner.;Laura Andreoli.;Rupert Harwood.;Michael Bosley.;Mervi Pitkanen.;Wendy Diment.;Alessandra Bortoluzzi.;Michael S Zandi.;Mandeep Ubhi.;Caroline Gordon.;David Jayne.;Felix Naughton.;Colette Barrere.;Chris Wincup.;James Brimicombe.;James A Bourgeois.;David D'Cruz.
来源: Rheumatology (Oxford). 2025年64卷3期1179-1192页
Attribution of neuropsychiatric symptoms in systemic lupus erythematosus (SLE) relies heavily on clinician assessment. Limited clinic time, variable knowledge and symptom under-reporting contribute to discordance between clinician assessments and patient symptoms. We obtained attributional data directly from patients and clinicians in order to estimate and compare potential levels of direct attribution to SLE of multiple neuropsychiatric symptoms using different patient-derived measures.
2511. Unveiling the distinctive ossification patterns of diffuse idiopathic skeletal hyperostosis and ankylosing spondylitis using computed tomography three-dimensional reconstruction.
作者: Simin Liao.;Jian Zhu.;Liuquan Cheng.;Zheng Zhao.;Xiaojian Ji.;Jianglin Zhang.;Feng Huang.
来源: Rheumatology (Oxford). 2025年64卷3期1417-1423页
To quantitatively analyse the morphological characteristics of osteophytes in DISH and syndesmophytes in AS, and summarize different ossification patterns to help identify the two diseases. Associated factors for new bone formation would be investigated.
2512. Reply to: Current classification criteria underestimate the incidence of idiopathic inflammatory myopathies by ignoring subgroups.
作者: Thomas Khoo.;James B Lilleker.;Bernard Yu-Hor Thong.;Valérie Leclair.;Janine A Lamb.;Hector Chinoy.
来源: Nat Rev Rheumatol. 2024年20卷5期313-314页 2513. Current classification criteria underestimate the incidence of idiopathic inflammatory myopathies by ignoring subgroups.
作者: Margherita Giannini.;Léa Debrut.;Benoit Nespola.;Michel Velten.;Bernard Geny.;Jean Sibilia.;Alain Meyer.
来源: Nat Rev Rheumatol. 2024年20卷5期311-312页 2514. Improvement of high-density lipoprotein atheroprotective properties in patients with systemic lupus erythematosus after belimumab treatment.
作者: Anastasia-Georgia Dedemadi.;Christina Gkolfinopoulou.;Dimitra Nikoleri.;Myrto Nikoloudaki.;Hanna Ruhanen.;Minna Holopainen.;Reijo Käkelä.;Georgia Christopoulou.;Stavros Bournazos.;Pantelis Constantoulakis.;Prodromos Sidiropoulos.;George Bertsias.;Angeliki Chroni.
来源: Rheumatology (Oxford). 2025年64卷2期648-657页
Chronic inflammatory diseases, like Systemic Lupus Erythematosus (SLE), carry an increased risk for atherosclerosis and cardiovascular events, accompanied by impairment of atheroprotective properties of high-density lipoprotein (HDL). In SLE, serum B cell-activating factor (BAFF), a cytokine implicated in disease progression, has been correlated with subclinical atherosclerosis. We investigated the impact of treatment with belimumab -an anti-BAFF monoclonal antibody- on HDL atheroprotective properties and composition in SLE patients.
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