Josef S Smolen
doi : 10.1136/annrheumdis-2021-220608
Annals of the Rheumatic Diseases 2021;80:677-678
Leonard Calabrese, Kevin L Winthrop
doi : 10.1136/annrheumdis-2021-219957
Annals of the Rheumatic Diseases 2021;80:679-681
Gerd R Burmester, Bernhard Manger, Georg Schett, Hendrik Schulze-Koops
doi : 10.1136/annrheumdis-2021-220529
Annals of the Rheumatic Diseases 2021;80:682-684
Mary K Crow
doi : 10.1136/annrheumdis-2019-216630
Annals of the Rheumatic Diseases 2021;80:685-688
Akari Suzuki, Matteo Maurizio Guerrini, Kazuhiko Yamamoto
doi : 10.1136/annrheumdis-2019-216794
Annals of the Rheumatic Diseases 2021;80:689-697
For more than a decade, genome-wide association studies have been applied to autoimmune diseases and have expanded our understanding on the pathogeneses. Genetic risk factors associated with diseases and traits are essentially causative. However, elucidation of the biological mechanism of disease from genetic factors is challenging. In fact, it is difficult to identify the causal variant among multiple variants located on the same haplotype or linkage disequilibrium block and thus the responsible biological genes remain elusive. Recently, multiple studies have revealed that the majority of risk variants locate in the non-coding region of the genome and they are the most likely to regulate gene expression such as quantitative trait loci. Enhancer, promoter and long non-coding RNA appear to be the main target mechanisms of the risk variants. In this review, we discuss functional genetics to challenge these puzzles.
Alessia Alunno, Aurélie Najm, Pedro M Machado, Heidi Bertheussen, Gerd R Burmester, Francesco Carubbi, Gabriele De Marco, Roberto Giacomelli, Olivier Hermine, John D Isaacs, Isabelle Koné-Paut, César Magro-Checa, Iain McInnes, Pier Luigi Meroni, Luca Quartuccio, Athimalaipet V Ramanan, Manuel Ramos-Casals, Javier Rodr?guez Carrio, Hendrik Schulze-Koops, Tanja A Stamm, Sander W Tas, Benjamin Terrier, Dennis G McGonagle, Xavier Mariette
doi : 10.1136/annrheumdis-2020-219724
Annals of the Rheumatic Diseases 2021;80:698-706
Objectives Severe systemic inflammation associated with some stages of COVID-19 and in fatal cases led therapeutic agents developed or used frequently in Rheumatology being at the vanguard of experimental therapeutics strategies. The aim of this project was to elaborate EULAR Points to consider (PtCs) on COVID-19 pathophysiology and immunomodulatory therapies.
Valentin Ritschl, Tanja A Stamm, Daniel Aletaha, Johannes W J Bijlsma, Peter B?hm, Razvan Gabriel Dragoi, Emma Dures, Fernando Estévez-L?pez, Laure Gossec, Annamaria Iagnocco, Andrea Marques, Ellen Moholt, Michal Nudel, Bart J F van den Bemt, Kirsten Viktil, Marieke Voshaar, Annette de Thurah, Loreto Carmona
doi : 10.1136/annrheumdis-2020-218986
Annals of the Rheumatic Diseases 2021;80:707-713
Background Non-adherence to treatment could preclude reaching an optimal outcome. Thirty to 80% of patients with rheumatic and musculoskeletal diseases (RMDs) do not adhere to the agreed treatment.
Silvia Hayer, Margriet J Vervoordeldonk, Maria C Denis, Marietta Armaka, Markus Hoffmann, Johan B?cklund, Kutty Selva Nandakumar, Birgit Niederreiter, Christina Geka, Anita Fischer, Nina Woodworth, Stephan Blüml, George Kollias, Rikard Holmdahl, Florence Apparailly, Marije I Koenders
doi : 10.1136/annrheumdis-2020-219247
Annals of the Rheumatic Diseases 2021;80:714-726
Animal models for inflammatory arthritides such as rheumatoid arthritis (RA) and psoriatic arthritis are widely accepted and frequently used to identify pathological mechanisms and validate novel therapeutic strategies. Unfortunately, many publications reporting on these animal studies lack detailed description and appropriate assessment of the distinct histopathological features of arthritis: joint inflammation, cartilage damage and bone erosion. Therefore, the European consortium BeTheCure, consisting of 38 academic and industrial partners from 15 countries, set as goal to standardise the histological evaluation of joint sections from animal models of inflammatory arthritis. The consensual approach of a task force including 16 academic and industrial scientists as well as laboratory technicians has resulted in the development of the Standardised Microscopic Arthritis Scoring of Histological sections (‘SMASH’) recommendations for a standardised processing and microscopic scoring of the characteristic histopathological features of arthritis, exemplified by four different rodent models for arthritis: murine collagen-induced arthritis, collagen–antibody-induced arthritis, human tumour necrosis factor transgenic Tg197 mice and rat pristane-induced arthritis, applicable to any other inflammatory arthritis model. Through standardisation, the SMASH recommendations are designed to improve and maximise the information derived from in vivo arthritis experiments and to promote reproducibility and transparent reporting on such studies. In this manuscript, we will discuss and provide recommendations for analysis of histological joint sections: identification of the regions of interest, sample preparation, staining procedures and quantitative scoring methods. In conclusion, awareness of the different features of the arthritis pathology in animal models of inflammatory arthritis is of utmost importance for reliable research outcome, and the standardised histological processing and scoring methods in these SMASH recommendations will help increase uniformity and reproducibility in preclinical research on inflammatory arthritis.
René Westhovens, William F C Rigby, Désirée van der Heijde, Daniel W T Ching, William Stohl, Jonathan Kay, Arvind Chopra, Beatrix Bartok, Franziska Matzkies, Zhaoyu Yin, Ying Guo, Chantal Tasset, John S Sundy, Angelika Jahreis, Neelufar Mozaffarian, Osvaldo Daniel Messina, Robert BM Landewé, Tatsuya Atsumi, Gerd R Burmester
doi : 10.1136/annrheumdis-2020-219213
Annals of the Rheumatic Diseases 2021;80:727-738
Objectives To investigate efficacy and safety of the Janus kinase-1 inhibitor filgotinib in patients with active rheumatoid arthritis (RA) with limited or no prior methotrexate (MTX) exposure.
Ketian Li, Wenxiu Mo, Lijun Wu, Xunyao Wu, Cainan Luo, Xinyue Xiao, Xinmiao Jia, Huaxia Yang, Yunyun Fei, Hua Chen, Fengchun Zhang, Yongzhe Li, Lidan Zhao, Xuan Zhang
doi : 10.1136/annrheumdis-2020-218460
Annals of the Rheumatic Diseases 2021;80:739-747
Objectives Lack of effective biomarkers in anti-citrullinated protein antibody (ACPA)-negative rheumatoid arthritis (RA) impedes early diagnosis and treatment. This study aimed to identify novel autoantibodies in RA and verify their diagnostic values in ACPA-negative RA based on protein microarray technology.
Cecilia Ansalone, John Cole, Sabarinadh Chilaka, Flavia Sunzini, Shatakshi Sood, Jamie Robertson, Stefan Siebert, Iain B McInnes, Carl S Goodyear
doi : 10.1136/annrheumdis-2020-219262
Annals of the Rheumatic Diseases 2021;80:748-757
Objectives Circulating myeloid precursors are responsible for post-natal osteoclast (OC) differentiation and skeletal health, although the exact human precursors have not been defined. Enhanced osteoclastogenesis contributes to joint destruction in rheumatoid arthritis (RA) and tumour necrosis factor (TNF) is a well-known pro-osteoclastogenic factor. Herein, we investigated the interplay between receptor activator of nuclear factor kappa-? ligand (RANK-L), indispensable for fusion of myeloid precursors and the normal development of OCs, and TNF in directing the differentiation of diverse pre-OC populations derived from human peripheral blood.
Christina Adamichou, Irini Genitsaridi, Dionysis Nikolopoulos, Myrto Nikoloudaki, Argyro Repa, Alessandra Bortoluzzi, Antonis Fanouriakis, Prodromos Sidiropoulos, Dimitrios T Boumpas, George K Bertsias
doi : 10.1136/annrheumdis-2020-219069
Annals of the Rheumatic Diseases 2021;80:758-766
Objectives Diagnostic reasoning in systemic lupus erythematosus (SLE) is a complex process reflecting the probability of disease at a given timepoint against competing diagnoses. We applied machine learning in well-characterised patient data sets to develop an algorithm that can aid SLE diagnosis.
Laura P Whittall Garcia, Dafna D Gladman, Murray Urowitz, Zahi Touma, Jiandong Su, Sindhu R Johnson
doi : 10.1136/annrheumdis-2020-218670
Annals of the Rheumatic Diseases 2021;80:767-774
Objective To determine the ominosity of the European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) Systemic Lupus Erythematosus Classification Criteria by determining its predictive role for disease severity in the first 5?years following diagnosis.
Martin Aringer, Ralph Brinks, Thomas D?rner, David Daikh, Marta Mosca, Rosalind Ramsey-Goldman, Josef S Smolen, David Wofsy, Dimitrios T Boumpas, Diane L Kamen, David Jayne, R Cervera, Nathalie Costedoat-Chalumeau, Betty Diamond, Dafna D Gladman, Bevra Hahn, Falk Hiepe, S?ren Jacobsen, Dinesh Khanna, Kirsten Lerstr?m, Elena Massarotti, Joseph McCune, Guillermo Ruiz-Irastorza, Jorge Sanchez-Guerrero, Matthias Schneider, Murray Urowitz, George Bertsias, Bimba F Hoyer, Nicolai Leuchten, Gabriela Schmajuk, Chiara Tani, Sara K Tedeschi, Zahi Touma, Branimir Anic, Florence Assan, Tak Mao Chan, Ann Elaine Clarke, Mary K Crow, L?szl? Czirj?k, Andrea Doria, Winfried Graninger, Bernadett Halda-Kiss, Sarfaraz Hasni, Peter M Izmirly, Michelle Jung, G?bor Kum?novics, Xavier Mariette, Ivan Padjen, José M Pego-Reigosa, Juanita Romero-Diaz, ??igo R?a-Figueroa, Raphaèle Seror, Georg H Stummvoll, Yoshiya Tanaka, Maria G Tektonidou, Carlos Vasconcelos, Edward M Vital, Daniel J Wallace, Sule Yavuz, Pier Luigi Meroni, Marvin J Fritzler, Ray Naden, Karen Costenbader, Sindhu R Johnson
doi : 10.1136/annrheumdis-2020-219373
Annals of the Rheumatic Diseases 2021;80:775-781
Background/objectives The European League Against Rheumatism (EULAR)/American College of Rheumatology (ACR) 2019 classification criteria for systemic lupus erythematosus system showed high specificity, while attaining also high sensitivity. We hereby analysed the performance of the individual criteria items and their contribution to the overall performance of the criteria.
Latanya N Coke, Hongxiu Wen, Mary Comeau, Mustafa H Ghanem, Andrew Shih, Christine N Metz, Wentian Li, Carl D Langefeld, Peter K Gregersen, Kim R Simpfendorfer
doi : 10.1136/annrheumdis-2020-218810
Annals of the Rheumatic Diseases 2021;80:782-787
Objectives To determine if the polymorphism encoding the Arg206Cys substitution in DNASE1L3 explains the association of the DNASE1L3/PXK gene locus with systemic lupus erythematosus (SLE) and to examine the effect of the Arg206Cys sequence change on DNASE1L3 protein function.
Daniella Muallem Schwartz, Moses M Kitakule, Brian LP Dizon, Cristhian Gutierrez-Huerta, Sarah A Blackstone, Aarohan M Burma, Aran Son, Natalie Deuitch, Sofia Rosenzweig, Hirsh Komarow, Deborah L Stone, Anne Jones, Michele Nehrebecky, Patrycja Hoffmann, Tina Romeo, Adriana Almeida de Jesus, Sara Alehashemi, Megha Garg, Sofia Torreggiani, Gina A Montealegre Sanchez, Katelin Honer, Gema Souto Adeva, Karyl S Barron, Ivona Aksentijevich, Amanda K Ombrello, Raphaela Goldbach-Mansky, Daniel L Kastner, Joshua D Milner, Pamela Frischmeyer-Guerrerio
doi : 10.1136/annrheumdis-2020-219137
Annals of the Rheumatic Diseases 2021;80:788-795
Background Monogenic autoinflammatory diseases (AID) are caused by mutations in innate immune genes. The effects of these mutations on allergic inflammation are unknown.
Sanna Cederqvist, Tapio Flinkkil?, Markus Sormaala, Jari Ylinen, Hannu Kautiainen, Tero Irmola, Heidi Lehtokangas, Juho Liukkonen, Konsta Pamilo, Tero Ridanp??, Kai Sirni?, Juhana Leppilahti, Ilkka Kiviranta, Juha Paloneva
doi : 10.1136/annrheumdis-2020-219099
Annals of the Rheumatic Diseases 2021;80:796-802
Background Rotator cuff disease (RCD) causes prolonged shoulder pain and disability in adults. RCD is a continuum ranging from tendinopathy to full-thickness tendon tear. Recent studies have shown that subacromial decompression and non-surgical treatments provide equivalent results in RCD without a full-thickness tendon lesion. However, the importance of surgery for full-thickness tendon tears remains unclear.
Alessia Alunno, Aurélie Najm, Xavier Mariette, Gabriele De Marco, Jenny Emmel, Laura Mason, Dennis G McGonagle, Pedro M Machado
doi : 10.1136/annrheumdis-2020-219725
Annals of the Rheumatic Diseases 2021;80:803-815
Objective To summarise the available information on efficacy and safety of immunomodulatory agents in SARS-CoV-2 infection.
Corrado Campochiaro, Giorgia Trignani, Alessandro Tomelleri, Stefano Cascinu, Lorenzo Dagna
doi : 10.1136/annrheumdis-2020-219811
Annals of the Rheumatic Diseases 2021;80:816-817
Kristin M D’Silva, Naomi Serling-Boyd, Tiffany Y-T Hsu, Jeffrey A Sparks, Zachary S Wallace
doi : 10.1136/annrheumdis-2020-219808
Annals of the Rheumatic Diseases 2021;80:817-819
Julia Spierings, Voon Ong, Christopher P Denton
doi : 10.1136/annrheumdis-2020-219775
Annals of the Rheumatic Diseases 2021;80:819-820
Yijun You, Ce Shi, Zhuochao Zhou, Fan Wang, Yue Sun, Jialin Teng, Honglei Liu, Xiaobing Cheng, Yutong Su, Hui Shi, Chengde Yang, Junna Ye
doi : 10.1136/annrheumdis-2020-219303
Annals of the Rheumatic Diseases 2021;80:820-822
Rita Angélica Pineda-Sic, Dionicio Angel Galarza-Delgado, Griselda Serna-Pe?a, Sergio A Castillo-Torres, Diana Elsa Flores-Alvarado, Jorge A Esquivel-Valerio, Iv?n De Jes?s Hern?ndez-Galarza
doi : 10.1136/annrheumdis-2020-218198
Annals of the Rheumatic Diseases 2021;80:e85.
Hendrik Schulze-Koops, Klaus Krueger, Christof Specker
doi : 10.1136/annrheumdis-2020-218223
Annals of the Rheumatic Diseases 2021;80:e86
Andrea Hermina Gy?rfi, Markus Kopp, Matthias May, Marcel Vetter, Michael Uder, Andreas E Kremer, Georg Schett, Thomas Harrer, J?rg H W Distler
doi : 10.1136/annrheumdis-2020-218258
Annals of the Rheumatic Diseases 2021;80:e87.
Milena Gianfrancesco, Kimme L Hyrich, Jinoos Yazdany, Pedro M Machado, Philip C Robinson
doi : 10.1136/annrheumdis-2020-218328
Annals of the Rheumatic Diseases 2021;80:e88.
Augustin Lecler, Delphine Villeneuve, Catherine Vignal, Thomas Sené
doi : 10.1136/annrheumdis-2020-218343
Annals of the Rheumatic Diseases 2021;80:e89.
Sara Monti, Carlomaurizio Montecucco
doi : 10.1136/annrheumdis-2020-218634
Annals of the Rheumatic Diseases 2021;80:e90.
Stefano Alivernini, Antonella Cingolani, Marco Gessi, Annamaria Paglionico, Giuliana Pasciuto, Barbara Tolusso, Massimo Fantoni, Elisa Gremese
doi : 10.1136/annrheumdis-2020-218315
Annals of the Rheumatic Diseases 2021;80:e91.
Mar?a-del-Carmen L?pez-Gonz?lez, Vega Jovani, Esperanza Merino, Paloma Vela, Mariano Andrés
doi : 10.1136/annrheumdis-2020-218368
Annals of the Rheumatic Diseases 2021;80:e92.
Natasha Cleaton, Sabrina Raizada, Nick Barkham, Srinivasan Venkatachalam, Tom Sheeran, Tochukwu Adizie, Hem Sapkota, Baldev Singh, James Bateman
doi : 10.1136/annrheumdis-2020-218236
Annals of the Rheumatic Diseases 2021;80:e93.
Zoé Gendebien, Christian von Frenckell, Clio Ribbens, Béatrice André, Marie Thys, Marjorie Gangolf, Laurence Seidel, Michel G Malaise, Olivier Malaise
doi : 10.1136/annrheumdis-2020-218244
Annals of the Rheumatic Diseases 2021;80:e94.
Muserref Kasap Cuceoglu, Ezgi Deniz Batu, Yelda Bilginer, Seza ?zen
doi : 10.1136/annrheumdis-2020-218341
Annals of the Rheumatic Diseases 2021;80:e95.
Carlo Salvarani, Gianluigi Bajocchi, Pamela Mancuso, Elena Galli, Francesco Muratore, Paolo Giorgi Rossi
doi : 10.1136/annrheumdis-2020-218364
Annals of the Rheumatic Diseases 2021;80:e96.
Ho So, Cheuk-Chun Szeto, Lai-Shan Tam
doi : 10.1136/annrheumdis-2020-218220
Annals of the Rheumatic Diseases 2021;80:e97.
Hendrik Schulze-Koops, Christof Specker, Klaus Krueger
doi : 10.1136/annrheumdis-2020-218235
Annals of the Rheumatic Diseases 2021;80:e98.
Silvia Su?rez-D?az, Claudia Mor?n-Casta?o, Rubén Coto-Hern?ndez, Lourdes Mozo-Avellaneda, Carlos Su?rez-Cuervo, Luis Caminal-Montero
doi : 10.1136/annrheumdis-2020-218246
Annals of the Rheumatic Diseases 2021;80:e99.
Richard Oluyinka Akintayo, Akpabio Akpabio, Asgar Kalla, Dzifa Dey, Angela Migowa, Hakeem Olaosebikan, Rachid Bahiri, Yasser El Miedany, Djohra Hadef, Wafa Hamdi, Omondi Oyoo, Samy Slimani, Abubakar Yerima, Yassmin Taha, Adewale Adebajo, Olufemi Adelowo, Mohammed Tikly, Imad Ghozlani, Kawther Ben Abdelghani, Nermeen Ahmed Fouad, Doaa Mosad, Dalia El Mikkawy, Mohamed Hassan Abu-Zaid, Rasha A Abdel-Magied
doi : 10.1136/annrheumdis-2020-218273
Annals of the Rheumatic Diseases 2021;80:e100.
Naoto Yokogawa, Naoto Minematsu, Harutaka Katano, Tadaki Suzuki
doi : 10.1136/annrheumdis-2020-218281
Annals of the Rheumatic Diseases 2021;80:e101.
Roman Praliaud, Helene Greigert, Maxime Samson, Marianne Zeller, Mathieu Boulin, Philip Bielefeld, André Ramon, Yves Cottin, Bernard Bonnotte
doi : 10.1136/annrheumdis-2020-218360
Annals of the Rheumatic Diseases 2021;80:e102.
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