Annals of the Rheumatic Diseases最新文献

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Safety of colchicine on fertility, pregnancy, and lactation: a systematic review and meta-analysis informing the EULAR/PReS recommendations for familial Mediterranean fever. 秋水仙碱对生育、妊娠和哺乳的安全性:一项系统综述和荟萃分析,为EULAR/PReS对家族性地中海热的建议提供信息。
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-06-01 Epub Date: 2025-02-28 DOI: 10.1016/j.ard.2025.02.005
Teresa Otón, Erdal Sağ, Loreto Carmona, Seza Ozen
{"title":"Safety of colchicine on fertility, pregnancy, and lactation: a systematic review and meta-analysis informing the EULAR/PReS recommendations for familial Mediterranean fever.","authors":"Teresa Otón, Erdal Sağ, Loreto Carmona, Seza Ozen","doi":"10.1016/j.ard.2025.02.005","DOIUrl":"10.1016/j.ard.2025.02.005","url":null,"abstract":"<p><strong>Objectives: </strong>To summarise the evidence of colchicine's effects on fertility, pregnancy, and lactation in the treatment of patients with familial Mediterranean fever (FMF).</p><p><strong>Methods: </strong>Two reviewers and a methodologist conducted the systematic review. Together with an expert in FMF, they established the protocol and the PICOt questions. Medline via PubMed, Embase, and the Cochrane Library were searched from inception until August 23, 2023. All clinical trials, cohort studies, or case series focused on the safety of colchicine in FMF, concerning reproductive issues or breastfeeding, and involving at least 5 patients were eligible. The risk of bias in the studies was assessed using the Newcastle-Ottawa Scale. Meta-analysis was planned for at least 2 homogeneous studies with fixed-effect models using the Mantel-Haenszel method to obtain the pooled risk ratio (RR) and 95% CI.</p><p><strong>Results: </strong>Twenty-five studies were included overall of moderate to low quality. The RR of miscarriage or foetal loss with colchicine in FMF was 0.87 (95% CI, 0.67-1.12), showing a heterogeneity of 31%. The percentage of birth defects in the exposed group ranged from 0.6% to 4.0%, not very different, comparable to the rates of women with FMF without exposure to colchicine. Regarding fertility, there were no apparent differences between colchicine-exposed and nonexposed groups, neither among women nor men (sperm assessment). Only 1 study reported breastfeeding data, showing no growth differences among exposed and nonexposed babies.</p><p><strong>Conclusions: </strong>Colchicine appears to have a good risk-benefit profile regarding reproductive safety. Ideally, higher-quality studies should be performed, especially regarding male fertility.</p>","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"1045-1051"},"PeriodicalIF":20.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143536529","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update. EULAR/PReS批准了家族性地中海热管理建议:2024年更新。
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-06-01 Epub Date: 2025-04-09 DOI: 10.1016/j.ard.2025.01.028
Seza Ozen, Erdal Sağ, Teresa Oton, Ahmet Gül, Cristiana Sieiro Santos, Deniz Bayraktar, Fabian Nikolai Proft, Helen J Lachmann, Jasmin Kuemmerle Deschner, Marco Gattorno, Nuray Aktay Ayaz, Ömer Karadağ, Sezin Yüce, Shaye Kivity, Sophie Georgin-Lavialle, Tamara Sarkisian, Tilmann Kallinich, Véronique Hentgen, Yeliz Prior, Yosef Uziel, Ziv Yardeni, Loreto Carmona
{"title":"EULAR/PReS endorsed recommendations for the management of familial Mediterranean fever (FMF): 2024 update.","authors":"Seza Ozen, Erdal Sağ, Teresa Oton, Ahmet Gül, Cristiana Sieiro Santos, Deniz Bayraktar, Fabian Nikolai Proft, Helen J Lachmann, Jasmin Kuemmerle Deschner, Marco Gattorno, Nuray Aktay Ayaz, Ömer Karadağ, Sezin Yüce, Shaye Kivity, Sophie Georgin-Lavialle, Tamara Sarkisian, Tilmann Kallinich, Véronique Hentgen, Yeliz Prior, Yosef Uziel, Ziv Yardeni, Loreto Carmona","doi":"10.1016/j.ard.2025.01.028","DOIUrl":"10.1016/j.ard.2025.01.028","url":null,"abstract":"<p><strong>Objectives: </strong>Familial Mediterranean fever (FMF) is the most common monogenic autoinflammatory disease despite being a rare disease for many rheumatologists. These evidence-based recommendations update the ones issued in 2016 to account for the recent developments in the field and aim to guide rheumatologists and other health professionals in the treatment and follow-up of patients with FMF.</p><p><strong>Methods: </strong>A multidisciplinary panel was assembled, including rheumatologists, internists, paediatricians, a nephrologist, an occupational therapist, a physiotherapist, 2 methodologists, and 2 patient representatives, all from the Eastern Mediterranean area and Europe. Several systematic reviews were performed on the pharmacological treatment of FMF and its complications. The previous recommendations were revised considering the updated evidence, and the new levels of evidence were incorporated. The agreement with the recommendations was obtained through a Delphi survey.</p><p><strong>Results: </strong>The final set comprises 4 overarching principles and 12 recommendations, each presented with its degree of agreement (0-10), level of evidence, and rationale. The degree of agreement was greater than 9/10 in all instances, and the level of evidence improved in most updated statements. Improving adherence is emphasised as an important aspect in several statements. These new recommendations include a priority set, quality indicators, and other suggested implementation strategies.</p><p><strong>Conclusions: </strong>This article presents a set of widely accepted recommendations for treating and monitoring FMF, supported by the best available evidence and expert opinion. These recommendations are valuable for guiding physicians in caring for patients with FMF.</p>","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":"899-909"},"PeriodicalIF":20.3,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143958389","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mitochondria-centred metabolomic map of inclusion body myositis: sex-specific alterations in central carbon metabolism. 包涵体肌炎的线粒体中心代谢组学图:中心碳代谢的性别特异性改变。
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-05-30 DOI: 10.1016/j.ard.2025.05.003
Elie Naddaf, Ibrahim Shammas, Surendra Dasari, Xuan-Mai T Petterson, Wolfdieter Springer, Eugenia Trushina, Ian R Lanza
{"title":"Mitochondria-centred metabolomic map of inclusion body myositis: sex-specific alterations in central carbon metabolism.","authors":"Elie Naddaf, Ibrahim Shammas, Surendra Dasari, Xuan-Mai T Petterson, Wolfdieter Springer, Eugenia Trushina, Ian R Lanza","doi":"10.1016/j.ard.2025.05.003","DOIUrl":"10.1016/j.ard.2025.05.003","url":null,"abstract":"<p><strong>Objectives: </strong>To benchmark metabolomic signatures of inclusion body myositis (IBM) in muscle tissue, highlighting sex-specific differences and the correlation with clinical parameters.</p><p><strong>Methods: </strong>A total of 37 IBM patients and 22 controls without myopathy were included. All participants had bulk RNA sequencing performed previously. Clinical parameters included disease duration and manual muscle test (MMT) scores. Discovery metabolite screening and quantitative targeted metabolomics platforms were used. Levels of metabolites and RNA-metabolomic integrated modules were correlated with clinical parameters and the mitophagy marker, p-S65-Ubiquitin (p-S65-Ub).</p><p><strong>Results: </strong>IBM muscle samples showed elevated citric acid (TCA) cycle intermediates and anaplerotic amino acids. Proximal glycolytic intermediates were decreased, while pentose phosphate pathway (PPP) metabolites were increased. Short-chain acylcarnitines were lower in IBM males but not in females. Lastly, nucleic acid bases were increased, and nucleotides were decreased. MMT correlated with PPP metabolites and nucleic acid bases, and inversely correlated with glycolysis metabolites and mono/diphosphate nucleotides. MMT also correlated with several amino acids, including cysteine, taurine, carnosine, and sarcosine. Acylcarnitines correlated with disease duration only in males. Four RNA-metabolomic integrated modules demonstrated significant correlations. The strongest correlations were observed between the pink module and both sexes and p-S65-Ub. MMT and p-S65-Ub correlated with 3 and 2 modules, respectively. The enriched pathways were related to central carbon metabolism, cytokine/chemokine signalling, neurotransmission, and mitogen-activated protein kinase (MAPK)/RAS signalling. Males had relatively similar correlations to the combined-sex analysis, while females had no significant correlation with any module.</p><p><strong>Conclusions: </strong>IBM is associated with clinically significant alterations in central carbon metabolism, with the strongest RNA-metabolomic-clinical correlations observed in males. Further research is needed to explore the role of these metabolic changes in IBM pathogenesis and their progression over time.</p>","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":""},"PeriodicalIF":20.3,"publicationDate":"2025-05-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144224103","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Prognosis of older patients with multimorbidity who do not meet the definition of difficult-to-treat rheumatoid arthritis but have uncontrolled disease activity. 不符合难治性类风湿关节炎定义但疾病活动不受控制的老年多病患者的预后
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-05-29 DOI: 10.1016/j.ard.2025.05.005
Satoshi Takanashi, Tsutomu Takeuchi, Yuko Kaneko
{"title":"Prognosis of older patients with multimorbidity who do not meet the definition of difficult-to-treat rheumatoid arthritis but have uncontrolled disease activity.","authors":"Satoshi Takanashi, Tsutomu Takeuchi, Yuko Kaneko","doi":"10.1016/j.ard.2025.05.005","DOIUrl":"https://doi.org/10.1016/j.ard.2025.05.005","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":""},"PeriodicalIF":20.3,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186347","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland. DDX6-CXCR5自身免疫性疾病风险位点的变异影响免疫细胞和唾液腺的调节网络。
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-05-29 DOI: 10.1016/j.ard.2025.04.023
Mandi M Wiley, Marcin Radziszewski, Bhuwan Khatri, Michelle L Joachims, Kandice L Tessneer, Anna M Stolarczyk, Songyuan Yao, James Li, Cherilyn Pritchett-Frazee, Audrey A Johnston, Astrid Rasmussen, Juan-Manuel Anaya, Lara A Aqrawi, Sang-Cheol Bae, Eva Baecklund, Albin Björk, Johan G Brun, Sara Magnusson Bucher, Nick Dand, Maija-Leena Eloranta, Fiona Engelke, Helena Forsblad-d'Elia, Cecilia Fugmann, Stuart B Glenn, Chen Gong, Jacques-Eric Gottenberg, Daniel Hammenfors, Juliana Imgenberg-Kreuz, Janicke Liaaen Jensen, Svein Joar Auglænd Johnsen, Malin V Jonsson, Jennifer A Kelly, Sharmily Khanam, Kwangwoo Kim, Marika Kvarnström, Thomas Mandl, Javier Martín, David L Morris, Gaetane Nocturne, Katrine Brække Norheim, Peter Olsson, Øyvind Palm, Jacques-Olivier Pers, Nelson L Rhodus, Christopher Sjöwall, Kathrine Skarstein, Kimberly E Taylor, Phil Tombleson, Gudny Ella Thorlacius, Swamy R Venuturupalli, Edward M Vital, Daniel J Wallace, Lida Radfar, Michael T Brennan, Judith A James, R Hal Scofield, Patrick M Gaffney, Lindsey A Criswell, Roland Jonsson, Silke Appel, Per Eriksson, Simon J Bowman, Roald Omdal, Lars Rönnblom, Blake M Warner, Maureen Rischmueller, Torsten Witte, A Darise Farris, Xavier Mariette, Caroline H Shiboski, Marie Wahren-Herlenius, Marta E Alarcón-Riquelme, Wan-Fai Ng, Kathy L Sivils, Joel M Guthridge, Indra Adrianto, Timothy J Vyse, Betty P Tsao, Gunnel Nordmark, Christopher J Lessard
{"title":"Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland.","authors":"Mandi M Wiley, Marcin Radziszewski, Bhuwan Khatri, Michelle L Joachims, Kandice L Tessneer, Anna M Stolarczyk, Songyuan Yao, James Li, Cherilyn Pritchett-Frazee, Audrey A Johnston, Astrid Rasmussen, Juan-Manuel Anaya, Lara A Aqrawi, Sang-Cheol Bae, Eva Baecklund, Albin Björk, Johan G Brun, Sara Magnusson Bucher, Nick Dand, Maija-Leena Eloranta, Fiona Engelke, Helena Forsblad-d'Elia, Cecilia Fugmann, Stuart B Glenn, Chen Gong, Jacques-Eric Gottenberg, Daniel Hammenfors, Juliana Imgenberg-Kreuz, Janicke Liaaen Jensen, Svein Joar Auglænd Johnsen, Malin V Jonsson, Jennifer A Kelly, Sharmily Khanam, Kwangwoo Kim, Marika Kvarnström, Thomas Mandl, Javier Martín, David L Morris, Gaetane Nocturne, Katrine Brække Norheim, Peter Olsson, Øyvind Palm, Jacques-Olivier Pers, Nelson L Rhodus, Christopher Sjöwall, Kathrine Skarstein, Kimberly E Taylor, Phil Tombleson, Gudny Ella Thorlacius, Swamy R Venuturupalli, Edward M Vital, Daniel J Wallace, Lida Radfar, Michael T Brennan, Judith A James, R Hal Scofield, Patrick M Gaffney, Lindsey A Criswell, Roland Jonsson, Silke Appel, Per Eriksson, Simon J Bowman, Roald Omdal, Lars Rönnblom, Blake M Warner, Maureen Rischmueller, Torsten Witte, A Darise Farris, Xavier Mariette, Caroline H Shiboski, Marie Wahren-Herlenius, Marta E Alarcón-Riquelme, Wan-Fai Ng, Kathy L Sivils, Joel M Guthridge, Indra Adrianto, Timothy J Vyse, Betty P Tsao, Gunnel Nordmark, Christopher J Lessard","doi":"10.1016/j.ard.2025.04.023","DOIUrl":"10.1016/j.ard.2025.04.023","url":null,"abstract":"<p><strong>Objectives: </strong>Sjögren's disease (SjD) and systemic lupus erythematosus (SLE) share genetic risk at the DDX6-CXCR5 locus (11q23.3). Identifying and functionally characterising shared SNPs spanning this locus can provide new insights into common genetic mechanisms of autoimmunity.</p><p><strong>Methods: </strong>Transdisease meta-analyses, fine-mapping, and bioinformatic analyses prioritised shared likely functional single nucleotide polymorphisms (SNPs) for allele-specific and cell type-specific functional interrogation using electromobility shift, luciferase reporter, and quantitative chromatin conformation capture assays and clustered regularly interspaced short palindromic repeat (CRISPR) gene regulation.</p><p><strong>Results: </strong>Five shared SNPs were identified as likely functional in primary human immune cells, salivary gland and kidney tissues: rs57494551, rs4936443, rs4938572, rs7117261, and rs4938573. All 5 SNPs exhibited cell type-specific and allele-specific effects on nuclear protein binding affinity and enhancer/promoter regulatory activity in immune, salivary gland epithelial, and kidney epithelial cell models. Mapping of chromatin-chromatin interactions revealed a chromatin regulatory network that expanded beyond DDX6 and CXCR5 to include PHLDB1, lnc-PHLDB1-1, BCL9L, TRAPPC4, among others. Coalescence of functional assays and multiomic data analyses indicated that these SNPs likely modulate the activity of 3 regulatory regions: intronic rs57494551 regulatory region, intergenic SNP haplotype (rs4938572, rs4936443, and rs7117261) regulatory region, and rs4938573 regulatory region upstream of the CXCR5 promoter.</p><p><strong>Conclusions: </strong>Shared genetic susceptibly at the DDX6-CXCR5 locus in SjD and SLE likely alters common mechanisms of autoimmunity, including interferon signalling (DDX6), autophagy (TRAPPC4), and lymphocytic infiltration of disease-target tissues (CXCR5). Further, using multiomic data from patients with SjD, combined with bioinformatic and in vitro functional studies, can provide mechanistic insights into how genetic risk influences the biological pathways that drive complex autoimmunity.</p>","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":""},"PeriodicalIF":20.3,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12236377/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144186348","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
In immune-mediated necrotising myopathy, anti-HMGCR antibodies inhibit HMGCR activity, leading to the sarcoplasmic accumulation of lipid droplets and myofibres necrosis. 在免疫介导的坏死性肌病中,抗HMGCR抗体抑制HMGCR活性,导致肌浆内脂滴积聚和肌纤维坏死。
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-05-22 DOI: 10.1016/j.ard.2025.04.027
Margherita Giannini, Giulia Quiring, Mustapha Oulad-Abdelghani, Béatrice Lannes, Yves Allenbach, Olivier Benveniste, Olivier Boyer, Aleksandra Nadaj Pakleza, Bernard Geny, Alain Meyer
{"title":"In immune-mediated necrotising myopathy, anti-HMGCR antibodies inhibit HMGCR activity, leading to the sarcoplasmic accumulation of lipid droplets and myofibres necrosis.","authors":"Margherita Giannini, Giulia Quiring, Mustapha Oulad-Abdelghani, Béatrice Lannes, Yves Allenbach, Olivier Benveniste, Olivier Boyer, Aleksandra Nadaj Pakleza, Bernard Geny, Alain Meyer","doi":"10.1016/j.ard.2025.04.027","DOIUrl":"https://doi.org/10.1016/j.ard.2025.04.027","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":""},"PeriodicalIF":20.3,"publicationDate":"2025-05-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144131788","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Identification and validation of interferon-driven gene signature as a predictor of response to methotrexate in juvenile idiopathic arthritis. 鉴定和验证干扰素驱动的基因标记作为甲氨蝶呤对青少年特发性关节炎反应的预测因子。
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-05-20 DOI: 10.1016/j.ard.2025.03.007
Melissa Kartawinata, Wei-Yu Lin, Beth Jebson, Kathryn O'Brien, Elizabeth Ralph, Emma Welsh, Restuadi Restuadi, Elizabeth C Rosser, Claire T Deakin, Lucy R Wedderburn, Chris Wallace
{"title":"Identification and validation of interferon-driven gene signature as a predictor of response to methotrexate in juvenile idiopathic arthritis.","authors":"Melissa Kartawinata, Wei-Yu Lin, Beth Jebson, Kathryn O'Brien, Elizabeth Ralph, Emma Welsh, Restuadi Restuadi, Elizabeth C Rosser, Claire T Deakin, Lucy R Wedderburn, Chris Wallace","doi":"10.1016/j.ard.2025.03.007","DOIUrl":"https://doi.org/10.1016/j.ard.2025.03.007","url":null,"abstract":"<p><strong>Objectives: </strong>To identify and validate gene expression biomarkers of response to methotrexate (MTX) treatment in peripheral blood of children with juvenile idiopathic arthritis (JIA) measured before starting MTX treatment.</p><p><strong>Methods: </strong>RNA sequencing was performed on sorted CD4+, CD8+, CD14+, and CD19+ cells, as well as peripheral blood mononuclear cells (PBMC) taken pre-treatment in a discovery cohort (n = 97) and 2 validation cohorts (n = 26 and n = 47, respectively) of patients with non-systemic JIA. Clinical data were recorded at baseline (timepoint 1) prior to treatment and 6 months (timepoint 2) of MTX treatment. Analysis tested the association of gene expression in specific cell types with treatment response using limma-voom, gene set enrichment analysis, and a novel 51-gene score against response to treatment. Parallel analysis, also using pre-treatment gene expression data, was performed in adult rheumatoid arthritis (RA) data (n = 240).</p><p><strong>Results: </strong>In patients with JIA, the baseline expression of genes driven by interferon (IFN) alpha (type-I) or gamma (type-II) was associated with response to treatment at 6 months in 3 independent JIA cohorts. The direction of the association indicated that children with higher baseline expression of IFN-stimulated genes prior to MTX were more likely to be good responders. Comparison with adult RA indicated differences between PBMC and whole blood gene expression associations with response.</p><p><strong>Conclusions: </strong>In children with JIA, a high IFN-driven gene signature is associated with a better response to MTX than those with a low IFN-driven gene signature. These data could pave the way to clinically validated tools to identify those most likely to require medications in addition to MTX to control inflammation.</p>","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":""},"PeriodicalIF":20.3,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144666908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Radiographic structural damage in axial spondyloarthritis: is there a preferred way to quantify progression over time? Comparison of blinded versus unblinded mSASSS scoring. 轴性脊柱炎的影像学结构损伤:是否有一种更好的方法来量化进展?盲法与非盲法mSASSS评分的比较。
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-05-15 DOI: 10.1016/j.ard.2025.03.017
Xenofon Baraliakos, Mikhail Protopopov, Valeria Rios Rodriguez, Murat Torgutalp, Ani Dilbaryan, Hildrun Haibel, Joachim Sieper, Juergen Braun, Martin Rudwaleit, Denis Poddubnyy
{"title":"Radiographic structural damage in axial spondyloarthritis: is there a preferred way to quantify progression over time? Comparison of blinded versus unblinded mSASSS scoring.","authors":"Xenofon Baraliakos, Mikhail Protopopov, Valeria Rios Rodriguez, Murat Torgutalp, Ani Dilbaryan, Hildrun Haibel, Joachim Sieper, Juergen Braun, Martin Rudwaleit, Denis Poddubnyy","doi":"10.1016/j.ard.2025.03.017","DOIUrl":"https://doi.org/10.1016/j.ard.2025.03.017","url":null,"abstract":"<p><strong>Objectives: </strong>Structural progression in spine in axial spondyloarthritis (axSpA) is assessed by conventional radiographs and quantified by the modified Stoke Ankylosing Spondylitis Spine Score (mSASSS). Blinded mSASSS scoring might be associated with 'background noise,' and for assessing a slow-progressing disease such as axSpA, high sensitivity to change without loss of specificity is crucial. The aim of this study was to compare the sensitivity to change of blinded vs unblinded application of mSASSS for identification of a preferred way of assessing radiographic damage in axSpA over time.</p><p><strong>Methods: </strong>Cervical and lumbar radiographcs of axSpA patients participating in a national inception cohort (GErman SPondyloarthritis Inception Cohort) obtained at baseline and after 2 years were scored using the mSASSS by 5 experienced readers, 2 blinded and 3 unblinded to chronology. Mean scores were used for calculations.</p><p><strong>Results: </strong>Overall, 210 patients (37.3 years, 51% male, 79% human leukocyte antigen B27 positive) were included. The mean baseline mSASSS was 4.2 ± 8.3 vs 3.4±7.9 and mean mSASSS progression was 0.7 ± 2.3 vs 1.0 ± 1.9 for the blinded vs unblinded scoring method, respectively (P = .005). Progression of ≥2 mSASSS units was found in 30 (14.3%) vs 37 (17.6%) patients in blinded and unblinded scoring. In the shift analysis, mSASSS worsening was found in 35 (0.8%) vs 109 (2.2%) and improvement in 4 (0.1%) vs 2 (0.04%) of a total of 4.373 and 4914 vertebral edges in the blinded vs unblinded group, respectively. The majority of progression was found for the development of syndesmophytes in both groups.</p><p><strong>Conclusions: </strong>More mSASSS progression was detected using unblinded vs blinded scoring. Scoring spinal radiographs with known chronological order seems to be more sensitive to changes.</p>","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":""},"PeriodicalIF":20.3,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pulmonary arterial hypertension in adults with Still's disease: another pulmonary manifestation associated with HLA-DRB1*15. 成人斯蒂尔氏病肺动脉高压:与HLA-DRB1*相关的另一种肺部表现
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-05-15 DOI: 10.1016/j.ard.2025.04.016
Athénaïs Boucly, Stéphane Mitrovic, Maryvonnick Carmagnat, Laurent Savale, Xavier Jaïs, Jean-Luc Taupin, Estibaliz Lazaro, Emilie Berthoux, Nicolas Schleinitz, Maria-Rosa Ghigna, Joanna Kedra, Xavier Mariette, Céline Roussin, Pierre-Antoine Juge, Marc Humbert, Olivier Sitbon, David Montani, Bruno Fautrel
{"title":"Pulmonary arterial hypertension in adults with Still's disease: another pulmonary manifestation associated with HLA-DRB1*15.","authors":"Athénaïs Boucly, Stéphane Mitrovic, Maryvonnick Carmagnat, Laurent Savale, Xavier Jaïs, Jean-Luc Taupin, Estibaliz Lazaro, Emilie Berthoux, Nicolas Schleinitz, Maria-Rosa Ghigna, Joanna Kedra, Xavier Mariette, Céline Roussin, Pierre-Antoine Juge, Marc Humbert, Olivier Sitbon, David Montani, Bruno Fautrel","doi":"10.1016/j.ard.2025.04.016","DOIUrl":"https://doi.org/10.1016/j.ard.2025.04.016","url":null,"abstract":"<p><strong>Objectives: </strong>Inflammatory lung disease in Still's disease (SD) has recently been described. Among its manifestations, pulmonary arterial hypertension (PAH) is a rare and life-threatening event, with only a few case reports published. The objective was to report the largest adult cohort of PAH occurring in the context of SD.</p><p><strong>Methods: </strong>We identified 16 adult SD patients with PAH (PAH+) by a call for observations from the CRI-IMIDIATE (Club Rhumatismes & Inflammation - Immune-Mediated Inflammatory Disease Alliance for Translational and Clinical Research) network (https://cri-net.com/recherche/reseau-CRI-Imidiate/) and a search of the French pulmonary hypertension network registry. Patient characteristics and disease evolution were retrospectively compared with those of 111 SD controls without PAH (PAH-) followed in a reference centre.</p><p><strong>Results: </strong>The profile of patients in the PAH+ and PAH- groups differed: 100% versus 69.4% female (P = .006), 75% versus 17.1% Black (P < .0001), more active SD both at diagnosis and throughout the disease course, and more likely to present macrophage activation syndrome (62.5% vs 14.4%, P < .0001) and exhibit eosinophilia during the disease course (68.7% vs 7.2%, P < .0001). For the 84 out of 127 patients with genetic typing, the HLA-DRB1*15 allele was more prevalent in PAH+ than PAH- patients (8/11 [72.7%] vs 22/73 [30.1%], P = .014). PAH+ patients more frequently received canakinumab and immunosuppressants than did PAH- patients and had higher frequency of drug reactions to interleukin 1 (IL-1) and/or IL-6 inhibitors (37.5% vs 7.2%, P = .002). Mortality was higher in PAH+ than PAH- patients (37.5% vs 0.9%, P < .0001), and all deaths were related to SD flare.</p><p><strong>Conclusions: </strong>These results reinforce the association between the HLA-DRB1*15 allele and severe forms of SD and raise the question of therapeutic optimisation in such patients.</p>","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":""},"PeriodicalIF":20.3,"publicationDate":"2025-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144085674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Response to: Correspondence on 'Evaluating the limitations of random forest and SHAP in predicting treatment responses in systemic lupus erythematosus'. 回复:关于“评估随机森林和SHAP在预测系统性红斑狼疮治疗反应方面的局限性”的通信。
IF 20.3 1区 医学
Annals of the Rheumatic Diseases Pub Date : 2025-05-14 DOI: 10.1016/j.ard.2025.04.017
Andrea R Daamen, Prathyusha Bachali, Peter E Lipsky
{"title":"Response to: Correspondence on 'Evaluating the limitations of random forest and SHAP in predicting treatment responses in systemic lupus erythematosus'.","authors":"Andrea R Daamen, Prathyusha Bachali, Peter E Lipsky","doi":"10.1016/j.ard.2025.04.017","DOIUrl":"https://doi.org/10.1016/j.ard.2025.04.017","url":null,"abstract":"","PeriodicalId":8087,"journal":{"name":"Annals of the Rheumatic Diseases","volume":" ","pages":""},"PeriodicalIF":20.3,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144075536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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