Review
Rheumatology
Yasushi Kawaguchi, Masataka Kuwana
Summary: In patients with systemic sclerosis (SSc), vascular manifestations precede skin and organ fibrosis. There is increasing evidence demonstrating a pathogenic link between early vascular injury and subsequent development of tissue fibrosis.
CURRENT OPINION IN RHEUMATOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Iulia Szabo, Laura Muntean, Tania Crisan, Voicu Rednic, Claudia Sirbe, Simona Rednic
Summary: Systemic sclerosis (SSc) is a rare connective tissue disease with heterogeneous clinical phenotypes characterized by microangiopathy, immune dysfunction, and fibrosis. Epigenetic mechanisms and miRNAs play crucial roles in SSc pathogenesis, offering potential as biomarkers and therapeutic targets.
Review
Immunology
Claire F. Beesley, Nina R. Goldman, Taher E. Taher, Christopher P. Denton, David J. Abraham, Rizgar A. Mageed, Voon H. Ong
Summary: Systemic sclerosis (SSc) is an immune-mediated rheumatic disease characterized by excessive extracellular matrix deposition. B cells play a fundamental role in the pathogenesis and development of SSc, as they infiltrate lesional sites and produce profibrotic cytokines. B cell counts are increased in SSc patients and show differences in various B cell compartments. B cell signaling is impaired in SSc patients, and B cell depletion therapy has shown therapeutic benefits.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Cell Biology
Chia-Lung Chuang, Fabio Demontis
Summary: Huntington disease is a neurodegenerative disorder caused by a genetic mutation, affecting both the central nervous system and peripheral tissues. Systemic signaling from peripheral tissues can influence the progression of the disease in the brain, showcasing the interconnected nature of Huntington disease pathogenesis.
AGEING RESEARCH REVIEWS
(2021)
Review
Immunology
Maheswari Muruganandam, Angie Ariza-Hutchinson, Rosemina A. Patel, Wilmer L. Sibbitt
Summary: Systemic sclerosis is a complex autoimmune disease characterized by vascular damage, inflammation, and fibrosis. Biomarkers play an important role in understanding the disease process and potential therapeutic targets. Anti-nuclear antibodies are classical biomarkers, while other proteins and pathways are also implicated. The use of biomarker panels combined with advanced analysis techniques can help determine disease activity and treatment response.
JOURNAL OF INFLAMMATION RESEARCH
(2023)
Article
Multidisciplinary Sciences
Miki Nakano, Masahiro Ayano, Kazuo Kushimoto, Shotaro Kawano, Kazuhiko Higashioka, Shoichiro Inokuchi, Hiroki Mitoma, Yasutaka Kimoto, Mitsuteru Akahoshi, Nobuyuki Ono, Yojiro Arinobu, Koichi Akashi, Takahiko Horiuchi, Hiroaki Niiro
Summary: Serum sCD226 levels are associated with disease activity and flares of SLE, with high levels significantly correlated with clinical symptoms and antibody titers. Serum sCD226 may be a useful biomarker for SLE, aiding in more precise management of the disease.
SCIENTIFIC REPORTS
(2021)
Review
Rheumatology
Alain Lescoat, Valerie Lecureur, John Varga
Summary: Recent studies have highlighted the critical role of monocytes and macrophages in the pathogenesis of systemic sclerosis (SSc), showing increased monocyte adhesion and the presence of new macrophage subpopulations. Impaired pro-resolving capacities of macrophages may also contribute to the inflammatory and autoimmune features of SSc, making macrophages a potential target for therapeutic interventions. Investigative drugs targeting macrophage polarization have shown promising results in preclinical models and clinical trials, suggesting a potential novel approach for the treatment of SSc and other fibro-inflammatory disorders.
CURRENT OPINION IN RHEUMATOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Inmaculada Rodriguez-Martin, Gonzalo Villanueva-Martin, Alfredo Guillen-Del-Castillo, Norberto Ortego-Centeno, Jose L. Callejas, Carmen P. Simeon-Aznar, Javier Martin, Marialbert Acosta-Herrera
Summary: By using the two-sample Mendelian randomization approach, this study reveals a causal relationship between telomere length in leukocytes and systemic sclerosis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Medicine, General & Internal
Jiangfan Yu, Rui Tang, Ke Ding
Summary: Systemic sclerosis is a rare chronic autoimmune disease that involves genetic and environmental factors, as well as the influence of epigenetic regulation.
INTERNATIONAL JOURNAL OF GENERAL MEDICINE
(2022)
Article
Immunology
Xinglan He, Yaqian Shi, Zhuotong Zeng, Bingsi Tang, Xuan Xiao, Jiangfan Yu, Puyu Zou, Jiani Liu, Yangfan Xiao, Yangyang Luo, Rong Xiao
Summary: By conducting transcriptional sequencing on fibroblasts under hypoxic conditions, the study revealed that the interaction between hypoxia and other pathogenic factors is involved in the pathogenesis of SSc, providing insights into the mechanisms underlying the effects of hypoxia on SSc pathogenesis.
FRONTIERS IN IMMUNOLOGY
(2022)
Review
Immunology
Benjamin Thoreau, Benjamin Chaigne, Luc Mouthon
Summary: Systemic sclerosis (SSc) is a rare autoimmune disease characterized by fibrosis, vasculopathy, and autoimmunity. Recent studies have shown the significant role of B-cells in SSc, with disrupted subpopulations and activated phenotype. B-cells also exhibit impaired regulatory capacities and contribute to fibrosis through the production of autoantibodies and cytokines. Targeting B-cells may be a potential treatment for early-stage SSc patients with severe organ damage.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Allergy
Marie Elise Truchetet, Nicolo C. Brembilla, Carlo Chizzolini
Summary: Systemic sclerosis (SSc) is a disease characterized by skin and internal organ fibrosis, vascular modifications, and autoimmunity. It predominantly affects women and has heterogeneous clinical presentations and courses. The pathogenesis involves genetic predisposition, environmental factors, and epigenetic modifications that lead to immune-inflammatory dysregulation and abnormal cell behavior. Myofibroblasts play a crucial role in the disease by promoting fibrosis and matrix deposition. Other cell types, such as pericytes, platelets, and keratinocytes, are also involved. T cell subsets and autoantibodies contribute to fibroblast and endothelial cell dysfunction. Recent studies have revealed heterogeneity in SSc cell differentiation and functional states. Understanding the heterogeneity and pathogenic mechanisms will aid in developing personalized therapeutic approaches.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2023)
Review
Dermatology
Yusheng Zhang, Narges Maskan Bermudez, Brianna Sa, Andrea D. Maderal, Joaquin J. Jimenez
Summary: This article reviews key studies and findings to comprehensively understand how dysregulated epigenetic mechanisms contribute to the development of SLE, SSc, and DM.
EXPERIMENTAL DERMATOLOGY
(2023)
Article
Allergy
Gemma Lepri, Martina Catalano, Silvia Bellando-Randone, Serena Pillozzi, Elisa Giommoni, Roberta Giorgione, Cristina Botteri, Marco Matucci-Cerinic, Lorenzo Antonuzzo, Serena Guiducci
Summary: There is a well-known association between systemic sclerosis (SSc) and cancer, suggesting shared genetic and environmental risk factors. The use of immunosuppressive drugs in SSc may increase the risk of cancer occurrence, and certain serological features such as anti-RNA polymerase III and anti-topoisomerase I autoantibodies appear to be associated with increased cancer frequency in SSc patients. Additionally, lung fibrosis, long-standing SSc pulmonary involvement, and specific medication exposures have been linked to different types of cancer.
CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY
(2022)
Article
Medicine, General & Internal
Kuang-Tsu Yang, James Cheng-Chung Wei, Renin Chang, Chi-Chien Lin, Hsin-Hua Chen
Summary: This nationwide study revealed an association between newly diagnosed systemic sclerosis and previous history of appendicitis. Furthermore, the risk of developing SSc was also significantly associated with Charlson comorbidity index >=1 and periodontal disease.
JOURNAL OF CLINICAL MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Claudia Ferlito, Vincenzo Visco, Roberto Biselli, Maria Sofia Cattaruzza, Giulia Carreras, Gerardo Salerno, Florigio Lista, Maria Rosaria Capobianchi, Concetta Castilletti, Daniele Lapa, Guido Antonelli, Massimo Gentile, Maurizio Sorice, Gloria Riitano, Giuseppe Lucania, Valeria Riccieri, Fabrizio Mainiero, Antonio Angeloni, Marco Lucarelli, Giampiero Ferraguti, Alberto Autore, Marco Lastilla, Simonetta Salemi, Michela Ileen Biondo, Andrea Picchianti-Diamanti, Sara Caporuscio, Raffaela Teloni, Sabrina Mariotti, Roberto Nisini, Raffaele D'Amelio
Summary: This study analyzed the possible late appearance of side effects and the half-life of induced antibodies in a military cohort. The results showed no late side effects and confirmed the long duration of certain vaccine-induced antibodies.
Article
Rheumatology
Michael Hughes, Suiyuan Huang, Juan Jose Alegre-Sancho, Patricia E. Carreira, Merete Engelhart, Eric Hachulla, Joerg Henes, Eduardo Kerzberg, Maria Rosa Pozzi, Gabriela Riemekasten, Vanessa Smith, Gabriella Szucs, Marie Vanthuyne, Elisabetta Zanatta, Oliver Distler, Armando G. Gabrielli, Anna-Maria Hoffmann-Vold, Virginia D. Steen, Dinesh Khanna
Summary: This study aimed to investigate the prevalence and characteristics of late skin fibrosis in systemic sclerosis (SSc). The study found that late skin fibrosis is not uncommon in SSc, and different patterns of development exist among patients. Patients with lower baseline mRSS and lcSSc are more likely to develop late skin fibrosis. Anti-Scl-70 is associated with progression from lcSSc to dcSSc, while anticentromere antibodies have a protective effect.
Review
Medicine, General & Internal
Marianne Abifadel, Catherine Boileau
Summary: Atherosclerotic cardiovascular disease is a major cause of death worldwide, and familial hypercholesterolemia (FH) is a commonly inherited disease with significant risks. Advances in genetic research have greatly improved the diagnosis and treatment of FH, providing more therapeutic options.
JOURNAL OF INTERNAL MEDICINE
(2023)
Article
Rheumatology
Yann Nguyen, Cecile M. Yelnik, Nathalie Morel, Romain Paule, Romain Stammler, Leo Placais, Karim Sacre, Bertrand Godeau, Helene Maillard, David Launay, Sandrine Morell-Dubois, Anastasia Dupre, Guillaume Lefevre, Cecile Devloo, Virginie Dufrost, Ygal Benhamou, Herve Levesque, Gaelle Leroux, Jean-Charles Piette, Luc Mouthon, Eric Hachulla, Marc Lambert, Veronique Le Guern, Nathalie Costedoat-Chalumeau
Summary: This study used unsupervised clustering analysis to identify four homogeneous phenotypic subgroups among APS patients, primarily involving venous, arterial, SLE or other autoimmune disease-associated, and arterial microthrombotic phenotypes. These findings may be explained by heterogeneous pathophysiological mechanisms.
Article
Rheumatology
Michele Iudici, Denis Mongin, Elise Siegert, Patricia E. Carreira, Joerg Distler, Joerg Henes, Elisabetta Zanatta, Eric Hachulla, Giacomo De Luca, Carolina de Souza Mueller, Tania Santiago, Jose-Luis Tandaipan, Breno Valdetaro Bianchi, Maria De Santis, Anna-Maria Hoffmann-Vold, Armando Gabrielli, Oliver Distler, Delphine Sophie Courvoisier
Summary: The study aimed to estimate the prevalence of long-term exposure to glucocorticoids (GCs) among SSc patients and identify factors associated with prescribing practices over time and across countries. The results showed that the utilization of GCs is widespread and long-term in SSc patients, with significant variations between countries and within-country. However, there has been a gradual decrease in their utilization.
Article
Rheumatology
Alain Lescoat, Doerte Huscher, Nils Schoof, Paolo Airo, Jeska De Vries-Bouwstra, Gabriela Riemekasten, Eric Hachulla, Andrea Doria, Edoardo Rosato, Nicolas Hunzelmann, Carlomaurizio Montecucco, Armando Gabrielli, Anna-Maria Hoffmann-Vold, Oliver Distler, Jennifer Ben Shimol, Maurizio Cutolo, Yannick Allanore
Summary: The prevalence and characteristics of SSc-associated interstitial lung disease (SSc-ILD) vary between geographical regions. This study aimed to explore the differences in prevalence, phenotype, treatment, and prognosis in patients with SSc-ILD from different regions in the EUSTAR database. The results showed significant variations in clinical characteristics, survival rates, and treatment approaches among different regions.
Article
Rheumatology
Sebastien Sanges, Lisa Rice, Ly Tu, Eleanor Valenzi, Jean-Luc Cracowski, David Montani, Julio C. Mantero, Camille Ternynck, Guillemette Marot, Andreea M. Bujor, Eric Hachulla, David Launay, Marc Humbert, Christophe Guignabert, Robert Lafyatis
Summary: This study examined the serum proteome of patients with systemic sclerosis-associated pulmonary arterial hypertension (SSc-PAH) and identified two proteins that were significantly correlated with pulmonary vascular resistance (PVR), potentially providing biomarkers for earlier diagnosis and treatment.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Immunology
Amalia Colalillo, Anna-Maria Hoffmann-Vold, Chiara Pellicano, Antonella Romaniello, Armando Gabrielli, Eric Hachulla, Vanessa Smith, Carmen-Pilar Simeon-Aznar, Ivan Castellvi, Paolo Airo, Marie-Elise Truchetet, Elise Siegert, Oliver Distler, Edoardo Rosato
Summary: This study evaluated the predictive role of the echocardiography-derived TAPSE/sPAP ratio for pulmonary hypertension (PH) diagnosis and mortality. The study found that a TAPSE/sPAP ratio < 0.55 mm/mmHg is a predictive risk factor for PH, and a TAPSE/sPAP ratio <= 0.32 mm/mmHg is a predictive risk marker for all-cause mortality.
AUTOIMMUNITY REVIEWS
(2023)
Article
Immunology
Cloe Comarmond, Elodie Drumez, Julien Labreuche, Eric Hachulla, Thierry Thomas, Rene-Marc Flipo, Raphaelle Seror, Jerome Avouac, Nathalie Balandraud, Renaud Desbarbieux, Renaud Felten, Melanie Gilson, Marie-Hlene Guyot, Ambre Hittinger-Roux, Thao Pham, Myriam Renard, Nicolas Roux, Vincent Sobanski, Anne Tournadre, Christophe Richez, Patrice Cacoub
Summary: This study investigated whether RMD patients receiving anti-IL6 therapy have less severe forms of COVID-19 and better outcomes. Retrospective analysis of the French RMD COVID-19 cohort data showed that the severity of COVID-19 was lower in the anti-IL6 group, but there were no significant differences in the evolution of COVID-19 between the groups.
JOURNAL OF TRANSLATIONAL AUTOIMMUNITY
(2023)
Article
Rheumatology
Alessia Alunno, Tadej Avcin, Catherine Haines, Sofia Ramiro, Francisca Sivera, Sara Badreh, Xenofon Baraliakos, Johannes W. J. Bijlsma, Frank Buttgereit, Kaushik Chaudhuri, Jose A. P. Da Silva, Jean Dudler, Ricardo J. O. Ferreira, Tania Gudu, Eric Hachulla, Mette Holland-Fischer, Annamaria Iagnocco, Tue Wenzel Kragstrup, Gyoergy Nagy, Vasco C. Romao, Simon R. Stones, Marloes van Onna, Christopher J. Edwards
Summary: This study aimed to define competences and standards for the training of rheumatologists. Through collaboration and analysis of international training documents, an overall framework, 7 domains, 8 core themes, and 28 competences were established. The results suggest that these standards can contribute to harmonizing rheumatology training across European countries.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Letter
Respiratory System
Pierre Le Guen, Raphael Borie, Marie Legendre, Clairelyne Dupin, Laetitia Dunogeant, Sebastien Ottaviani, Marie-Pierre Debray, Aurelie Cazes, Philippe Dieude, Caroline Kannengiesser, Bruno Crestani
Review
Rheumatology
Eric L. L. Matteson, Marco Matucci-Cerinic, Michael Kreuter, Gerd R. Burmester, Philippe Dieude, Paul Emery, Yannick Allanore, Janet Pope, Dinesh Khanna
Summary: By studying patient-level factors in patients with rheumatoid arthritis (RA), it was found that there were consistent associations between age, sex, smoking status, and autoantibodies and the development of interstitial lung disease (ILD). These findings provide a basis for future research and contribute to a better understanding and management of the risk of ILD development and progression in patients with RA.
Article
Rheumatology
Amelie Nicolas, Sylvie Leroy, Luc Mouthon, Yurdagul Uzunhan, Vincent Cottin, Arsene Mekinian, Viviane Queyrel, Eric Hachulla, Benoit Gachet, David Launay, Nihal Martis
Summary: This study provides an overview of the diagnostic approaches, follow-up, and treatment strategies used in France for the management of SSc-associated ILD. The results highlight the heterogeneity and gaps in current clinical practices, calling for improvement and standardization.
THERAPEUTIC ADVANCES IN MUSCULOSKELETAL DISEASE
(2023)
Meeting Abstract
Rheumatology
Mickael Essouma, Jean Jacques Noubiap, Madeleine Singwe-Ngandeu, Eric Hachulla
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2023)
Meeting Abstract
Rheumatology
Louai Zaidan, Noemie Le Gouellec, Eric Hachulla, Luc Mouthon, Francois Jerome Authier
CLINICAL AND EXPERIMENTAL RHEUMATOLOGY
(2023)