Browsing by Author "Cervera, Ricard"
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- 2023 ACR/EULAR antiphospholipid syndrome classification criteriaPublication . Barbhaiya, Medha; Zuily, Stephane; Naden, Ray; Hendry, Alison; Manneville, Florian; Amigo, Mary-Carmen; Amoura, Zahir; Andrade, Danieli; Andreoli, Laura; Artim-Esen, Bahar; Atsumi, Tatsuya; Avcin, Tadej; Belmont, Michael H; Bertolaccini, Maria Laura; Branch, D Ware; Carvalheiras, Graziela; Casini, Alessandro; Cervera, Ricard; Cohen, Hannah; Costedoat-Chalumeau, Nathalie; Crowther, Mark; de Jesús, Guilherme; Delluc, Aurelien; Desai, Sheetal; Sancho, Maria De; Devreese, Katrien M; Diz-Kucukkaya, Reyhan; Duarte-García, Ali; Frances, Camille; Garcia, David; Gris, Jean-Christophe; Jordan, Natasha; Leaf, Rebecca K; Kello, Nina; Knight, Jason S; Laskin, Carl; Lee, Alfred I; Legault, Kimberly; Levine, Steve R; Levy, Roger A; Limper, Maarten; Lockshin, Michael D; Mayer-Pickel, Karoline; Musial, Jack; Meroni, Pier Luigi; Orsolini, Giovanni; Ortel, Thomas L; Pengo, Vittorio; Petri, Michelle; Pons-Estel, Guillermo; Gomez-Puerta, Jose A; Raimboug, Quentin; Roubey, Robert; Sanna, Giovanni; Seshan, Surya V; Sciascia, Savino; Tektonidou, Maria G; Tincani, Angela; Wahl, Denis; Willis, Rohan; Yelnik, Cécile; Zuily, Catherine; Guillemin, Francis; Costenbader, Karen; Erkan, DorukObjective: To develop new antiphospholipid syndrome (APS) classification criteria with high specificity for use in observational studies and trials, jointly supported by the American College of Rheumatology (ACR) and EULAR. Methods: This international multidisciplinary initiative included four phases: (1) Phase I, criteria generation by surveys and literature review; (2) Phase II, criteria reduction by modified Delphi and nominal group technique exercises; (3) Phase III, criteria definition, further reduction with the guidance of real-world patient scenarios, and weighting via consensus-based multicriteria decision analysis, and threshold identification; and (4) Phase IV, validation using independent adjudicators' consensus as the gold standard. Results: The 2023 ACR/EULAR APS classification criteria include an entry criterion of at least one positive antiphospholipid antibody (aPL) test within 3 years of identification of an aPL-associated clinical criterion, followed by additive weighted criteria (score range 1-7 points each) clustered into six clinical domains (macrovascular venous thromboembolism, macrovascular arterial thrombosis, microvascular, obstetric, cardiac valve, and hematologic) and two laboratory domains (lupus anticoagulant functional coagulation assays, and solid-phase enzyme-linked immunosorbent assays for IgG/IgM anticardiolipin and/or IgG/IgM anti-β2-glycoprotein I antibodies). Patients accumulating at least three points each from the clinical and laboratory domains are classified as having APS. In the validation cohort, the new APS criteria vs the 2006 revised Sapporo classification criteria had a specificity of 99% vs 86%, and a sensitivity of 84% vs 99%. Conclusion: These new ACR/EULAR APS classification criteria were developed using rigorous methodology with multidisciplinary international input. Hierarchically clustered, weighted, and risk-stratified criteria reflect the current thinking about APS, providing high specificity and a strong foundation for future APS research.
- Development and preliminary validation of the Behçet’s syndrome Overall Damage Index (BODI)Publication . Piga, Matteo; Floris, Alberto; Espinosa, Gerard; Serpa Pinto, Luísa; Kougkas, Nikolaos; Lo Monaco, Andrea; Lopalco, Giuseppe; Orlando, Ida; Pirani, Vittorio; Santos, Ernestina; Bertsias, George; Cantarini, Luca; Cauli, Alberto; Cervera, Ricard; Correia, João; Govoni, Marcello; Iannone, Florenzo; Neri, Piergiorgio; Martins da Silva, Ana; Vasconcelos, Carlos; Muntoni, Monica; Mathieu, AlessandroObjective: To develop and validate the evidence-based and consensus-based Behçet's Syndrome Overall Damage Index (BODI). Methods: Starting from 120 literature-retrieved preliminary items, the BODI underwent multiple Delphi rounds with an international multidisciplinary panel consisting of rheumatologists, internists, ophthalmologists, neurologists, and patient delegates until consensus was reached on the final content. The BODI was validated in a cross-sectional multicentre cohort of 228 patients with Behçet's syndrome (BS) through the study of (a) correlation between BODI and Vasculitis Damage Index (VDI) and (b) correlation between BODI and disease activity measures (ie, Behçet's Disease Current Activity Form (BDCAF), Physician Global Assessment (PGA), Patient Global Assessment (PtGA)), c) content and face validity and (d) feasibility. Results: The final BODI consists of 4 overarching principles and 46 unweighted-items grouped into 9 organ domains. It showed good to excellent reliability, with a mean Cohen's k of 0.84 (95% CI 0.78 to 0.90) and a mean intra-class correlation coefficient of 0.88 (95% CI 0.80 to 0.95). Overall, 128 (56.1%) patients had a BODI score ≥1, with a median score of 1.0 (range 0-14). The BODI significantly correlated with the VDI (r=0.693, p<0.001), demonstrating to effectively measure damage (construct validity), but had greater sensitivity in identifying major organ damage and did not correlate with disease activity measures (ie, BDCAF: p=0.807, PGA: p=0.820, PtGA: p=0.794) discriminating damage from the major confounding factor. The instrument was deemed credible (face validity), complete (content validity) and feasible by an independent group of clinicians. Conclusions: Pending further validation, the BODI may be used to assess organ damage in patients with BS in the context of observational and controlled trials.
- Discordance between patient and physician global assessment of disease activity in Behçet's syndrome: a multicenter study cohortPublication . Floris, Alberto; Espinosa, Gerard; Serpa Pinto, Luísa; Kougkas, Nikolaos; Lo Monaco, Andrea; Lopalco, Giuseppe; Orlando, Ida; Bertsias, George; Cantarini, Luca; Cervera, Ricard; Araújo Correia, João; Govoni, Marcello; Iannone, Florenzo; Mathieu, Alessandro; Neri, Piergiorgio; Martins da Silva, Ana; Vasconcelos, Carlos; Muntoni, Monica; Cauli, Alberto; Piga, MatteoBackground: To compare the patients' and physician's global assessment of disease activity in Behçet's syndrome (BS) and investigate the frequency, magnitude, and determinants of potential discordance. Methods: A total of 226 adult BS patients with a median (IQR) age of 46.9 (35.6-55.2) years were enrolled across Italy, Greece, Portugal, and Spain. Demographic, clinical, and therapeutic variables, as well as the patient reported outcomes, were collected at the recruitment visit. The physical (PCS) and mental (MCS) component summary scores of the Short Form Questionnaire 36 (SF-36) and the Behçet's syndrome Overall Damage Index (BODI) were calculated. Disease activity was assessed by the patients' (PtGA) and physician's global assessment (PGA) in a 10-cm visual analog scale, as well as the Behçet Disease Current Activity Form (BDCAF). Discordance (∆) was calculated by subtracting the PGA from the PtGA and defined as positive (PtGA>PGA) and negative (PtGA 80%) of disagreements were due to patients rating higher their disease activity. Higher values of BDCAF were associated to increased rate of positive discordance. When BDCAF = 0, the median (IQR) values of PtGA and PGA were 0.2 (0-2) and 0 (0-1), respectively. PCS (adjusted odds ratio (adjOR) 0.96 per unit, 95% CI 0.93-0.98, p = 0.006) and MCS (adjOR 0.96 per unit, 95% CI 0.93-0.99, p = 0.003) were independently associated with positive discordance using both cutoffs. Active ocular involvement emerged as a potential determinant of negative discordance (adjOR 5.88, 95% CI 1.48-23.30, p = 0.012). Conclusions: PtGA and PGA should be considered as complementary measures in BS, as patients and physicians may be influenced by different factors when assessing active disease manifestations. Particularly, PtGA may be a useful tool in the assessment of BS disease activity, as it carries a low risk to misclassify an inactive disease, and may allow to capture aspects of the patient's health that negatively affect his well-being and the treatment.
- Genome-wide whole blood transcriptome profiling in a large European cohort of systemic sclerosis patientsPublication . Beretta, Lorenzo; Barturen, Guillermo; Vigone, Barbara; Bellocchi, Chiara; Hunzelmann, Nicolas; De Langhe, Ellen; Cervera, Ricard; Gerosa, Maria; Kovács, László; Ortega Castro, Rafaela; Almeida, Isabel; Cornec, Divi; Chizzolini, Carlo; Pers, Jacques-Olivier; Makowska, Zuzanna; Lesche, Ralf; Kerick, Martin; Alarcón-Riquelme, Marta Eugenia; Martin, JavierObjectives: The analysis of annotated transcripts from genome-wide expression studies may help to understand the pathogenesis of complex diseases, such as systemic sclerosis (SSc). We performed a whole blood (WB) transcriptome analysis on RNA collected in the context of the European PRECISESADS project, aiming at characterising the pathways that differentiate SSc from controls and that are reproducible in geographically diverse populations. Methods: Samples from 162 patients and 252 controls were collected in RNA stabilisers. Cases and controls were divided into a discovery (n=79+163; Southern Europe) and validation cohort (n=83+89; Central-Western Europe). RNA sequencing was performed by an Illumina assay. Functional annotations of Reactome pathways were performed with the Functional Analysis of Individual Microarray Expression (FAIME) algorithm. In parallel, immunophenotyping of 28 circulating cell populations was performed. We tested the presence of differentially expressed genes/pathways and the correlation between absolute cell counts and RNA transcripts/FAIME scores in regression models. Results significant in both populations were considered as replicated. Results: Overall, 15 224 genes and 1277 functional pathways were available; of these, 99 and 225 were significant in both sets. Among replicated pathways, we found a deregulation in type-I interferon, Toll-like receptor cascade, tumour suppressor p53 protein function, platelet degranulation and activation. RNA transcripts or FAIME scores were jointly correlated with cell subtypes with strong geographical differences; neutrophils were the major determinant of gene expression in SSc-WB samples. Conclusions: We discovered a set of differentially expressed genes/pathways validated in two independent sets of patients with SSc, highlighting a number of deregulated processes that have relevance for the pathogenesis of autoimmunity and SSc.