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30 results on '"Florence A. Aeschlimann"'

1. A young girl with severe polyarteritis nodosa successfully treated with tocilizumab: a case report

Author

Margaux Boistault, Mireia Lopez Corbeto, Pierre Quartier, Laura Berbel Arcobé, Ariadna Carsi Durall, and Florence A. Aeschlimann

Subjects
Polyarteritis nodosa, Child, Tocilizumab, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background Childhood Polyarteritis nodosa (PAN) is a systemic vasculitis with necrotizing inflammation of medium- and small-sized arteries. Disease evolution may be severe and refractory to standard treatment including prednisone, azathioprine and cyclophosphamide. Case presentation We present the case of a young girl with severe PAN resulting in progressive ischemia and necrosis of fingers and toes. Biological work-up revealed increased acute phase reactants and interleukin-6 levels. She was only partially controlled despite high-dose corticosteroids and cyclophosphamide infusions, and eventually achieved rapid improvement and sustained remission on tocilizumab. Further, we review the current evidence of the interleukin-6-inhibitor tocilizumab for the treatment of PAN. Conclusion Tocilizumab may be an efficient therapeutic option in a subset of treatment-refractory children with PAN.

Published
2021
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2. Myocardial involvement in children with post-COVID multisystem inflammatory syndrome: a cardiovascular magnetic resonance based multicenter international study—the CARDOVID registry

Author

Florence A. Aeschlimann, Nilanjana Misra, Tarique Hussein, Elena Panaioli, Jonathan H. Soslow, Kimberly Crum, Jeremy M. Steele, Steffen Huber, Simona Marcora, Paolo Brambilla, Supriya Jain, Maria Navallas, Valentina Giuli, Beate Rücker, Felix Angst, Mehul D. Patel, Arshid Azarine, Pablo Caro-Domínguez, Annachiara Cavaliere, Giovanni Di Salvo, Francesca Ferroni, Gabriella Agnoletti, Laurent Bonnemains, Duarte Martins, Nathalie Boddaert, James Wong, Kuberan Pushparajah, and Francesca Raimondi

Subjects
SARS Cov-2 infection, CMR, Acute myocarditis, Children, MIS-C, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

Abstract Background Recent evidence shows an association between coronavirus disease 2019 (COVID-19) infection and a severe inflammatory syndrome in children. Cardiovascular magnetic resonance (CMR) data about myocardial injury in children are limited to small cohorts. The aim of this multicenter, international registry is to describe clinical and cardiac characteristics of multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19 using CMR so as to better understand the real extent of myocardial damage in this vulnerable cohort. Methods and results Hundred-eleven patients meeting the World Health Organization criteria for MIS-C associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), having clinical cardiac involvement and having received CMR imaging scan were included from 17 centers. Median age at disease onset was 10.0 years (IQR 7.0–13.8). The majority of children had COVID-19 serology positive (98%) with 27% of children still having both, positive serology and polymerase chain reaction (PCR). CMR was performed at a median of 28 days (19–47) after onset of symptoms. Twenty out of 111 (18%) patients had CMR criteria for acute myocarditis (as defined by the Lake Louise Criteria) with 18/20 showing subepicardial late gadolinium enhancement (LGE). CMR myocarditis was significantly associated with New York Heart Association class IV (p = 0.005, OR 6.56 (95%-CI 1.87–23.00)) and the need for mechanical support (p = 0.039, OR 4.98 (95%-CI 1.18–21.02)). At discharge, 11/111 (10%) patients still had left ventricular systolic dysfunction. Conclusion No CMR evidence of myocardial damage was found in most of our MIS-C cohort. Nevertheless, acute myocarditis is a possible manifestation of MIS-C associated with SARS-CoV-2 with CMR evidence of myocardial necrosis in 18% of our cohort. CMR may be an important diagnostic tool to identify a subset of patients at risk for cardiac sequelae and more prone to myocardial damage. Clinical trial registration: The study has been registered on ClinicalTrials.gov, Identifier NCT04455347, registered on 01/07/2020, retrospectively registered.

Published
2021
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3. An Update on Childhood-Onset Takayasu Arteritis

Author

Florence A. Aeschlimann, Rae S. M. Yeung, and Ronald M. Laxer

Subjects
Takayasu Arteritis, large vessel vasculitis, childhood vasculitis, pediatrics, review, Pediatrics, RJ1-570
Abstract

Takayasu Arteritis (TAK) is a rare large vessel vasculitis affecting the aorta and its major branches. The heterogeneous and often severe clinical manifestations result from systemic and local inflammation as well as end-organ ischemia. Disease flares are common and contribute to accrued damage over time with significant morbidity and mortality. Newer understanding of the pathogenesis in TAK has paved the way for the use of pathway targeting agents such as tumor necrosis factor (TNF)α- or interleuking (IL)-6-inhibitors with improved disease control. Nevertheless, long-term data are lacking, particularly in children; prognosis often remains guarded and the disease burden high. This article aims at providing a comprehensive review of childhood-onset TAK with a focus on recent publications.

Published
2022
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4. Human Papilloma Virus Vaccination in Patients with Rheumatic Diseases in France: A Study of Vaccination Coverage and Drivers of Vaccination

Author

Emmanuelle David, Pascal Roy, Alexandre Belot, Pierre Quartier, Brigitte Bader Meunier, Florence A. Aeschlimann, Jean-Christophe Lega, Isabelle Durieu, and Christine Rousset-Jablonski

Subjects
systemic erythematosus lupus, juvenile idiopathic arthritis, vaccination, human papillomavirus, barriers, Medicine
Abstract

Objectives: To describe human papillomavirus (HPV) vaccination practices in adolescent girls with systemic lupus erythematosus (SLE) and juvenile idiopathic arthritis (JIA) and to identify barriers to and motivators for vaccination. Methods: Cross-sectional, multicenter study on girls aged 9 to 19 years and their accompanying adults. The measurement criteria were the proportion of girls who were vaccinated against HPV, compliance with the vaccination schedule, factors associated with vaccination, and reasons for vaccination and non-vaccination through a self-administered questionnaire. Results: Seventy-one patients (16 with SLE and 55 with JIA) were included with a mean age of 13 years old (rank 11–18). According to parental questioning, 39% of patients were vaccinated against HPV or in progress (44% and 38% of SLE and JIA, respectively). This rate was 82% for the 22 patients ≥ 15 years of age. The vaccine was administered as often by a general practitioner (39%) as by a hospital pediatrician (also 39%). Two factors were significantly associated with vaccination: Older age (OR 53.68, 95% CI 5.85–429.29, p < 0.001) and previous hepatitis B vaccination (OR 4.97, 95% CI 1.03–24.01, p = 0.040). Recommendation of the vaccine by a health professional and fear of HPV-related diseases were the main facilitators. Lack of knowledge about the vaccine, lack of recommendation by a health professional, and fear of vaccine side effects were the main barriers. Conclusions: HPV vaccination coverage remains insufficient among patients with autoimmune disease. Education and awareness of health professionals about HPV infections are crucial elements in vaccine acceptance.

Published
2022
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6. Childhood Takayasu arteritis: disease course and response to therapy

Author

Florence A. Aeschlimann, Simon W. M. Eng, Shehla Sheikh, Ronald M. Laxer, Diane Hebert, Damien Noone, Marinka Twilt, Christian Pagnoux, Susanne M. Benseler, and Rae S. M. Yeung

Subjects
Takayasu arteritis, Children, Biologic therapy, Vasculitis, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background Takayasu arteritis (TAK) is a large vessel vasculitis that rarely affects children. Data on childhood TAK are scarce. The aim of this study was to analyze the presenting features, course and outcome of children with TAK, compare efficacy of treatment regimens and identify high-risk factors for adverse outcome. Methods A single-center cohort study of consecutive children fulfilling the EULAR/PRINTO/PReS criteria for childhood TAK between 1986 and 2015 was performed. Clinical phenotypes, laboratory markers, imaging features, disease course and treatment were documented. Disease activity was assessed using the Pediatric Vasculitis Disease Activity Score at each visit. Outcome: disease flare defined as new symptoms and/or increased inflammatory markers necessitating therapy escalation and/or new angiographic lesions, or death. Analysis: logistic regression tested relevant variables for flare. Kaplan-Meier analyses compared treatment regimens. Results Twenty-seven children were included; 74% were female, median age at diagnosis was 12.4 years. Twenty-two (81%) children presented with active disease at diagnosis. Treatment regimens included corticosteroids alone (15%), corticosteroids plus methotrexate (37%), cyclophosphamide (19%), or a biologic agent (11%). Adverse outcomes were documented in 14/27 (52%) children: two (7%) died within 6 months of diagnosis, and 13 (48%) experienced disease flares. The 2-year flare-free survival was 80% with biologic treatments compared to 43% in non-biologic therapies (p = 0.03); at last follow-up, biologic therapies resulted in significantly higher rates of inactive disease (p = 0.02). No additional outcome predictor was identified. Conclusions Childhood TAK carries a high disease burden; half of the children experienced flares and 7% died. Biologic therapies were associated with better control of disease activity.

Published
2017
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7. A Toddler Presenting with Pulmonary Renal Syndrome

Author

Florence A. Aeschlimann, Rae S.M. Yeung, Ronald M. Laxer, Diane Hebert, Ashley Cooper, Rose Chami, and Damien Noone

Subjects
Proteinuria, Hematuria, Palpable purpura, Pulmonary hemorrhage, Diseases of the genitourinary system. Urology, RC870-923
Abstract

Pulmonary renal syndrome refers to an association of pulmonary and glomerular disease and includes disorders, such as the ANCA-associated vasculitides, anti-glomerular basement membrane antibody disease, systemic lupus erythematosus, and IgA vasculitis (Henoch-Schönlein purpura). We present the medical history of a 26-month-old boy with an extensive purpuric rash, involving the limbs, trunk, and face, who developed clinically significant pulmonary hemorrhage and renal involvement. Rapid recognition of this rare but potentially life-threatening condition is crucial. In this report, we discuss the differential diagnosis, diagnostic studies, and treatment options to consider when facing a young child presenting with a pulmonary renal syndrome.

Published
2017
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8. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part one

Author

F. De Benedetti, J. Anton, M. Gattorno, H. Lachmann, I. Kone-Paut, S. Ozen, J. Frenkel, A. Simon, A. Zeft, E. Ben-Chetrit, H. M. Hoffman, Y. Joubert, K. Lheritier, A. Speziale, J. Guido, Roberta Caorsi, Federica Penco, Alice Grossi, Antonella Insalaco, Maria Alessio, Giovanni Conti, Federico Marchetti, Alberto Tommasini, Silvana Martino, Romina Gallizzi, Annalisa Salis, Francesca Schena, Francesco Caroli, Alberto Martini, Gianluca Damonte, Isabella Ceccherini, Marco Gattorno, Marie-Louise Frémond, Carolina Uggenti, Lien Van Eyck, Isabelle Melki, Darragh Duffy, Vincent Bondet, Yoann Rose, Bénédicte Neven, Yanick Crow, Mathieu P. Rodero, Yvonne Kusche, Johannes Roth, Katarzyna Barczyk-Kahlert, Giovanna Ferrara, Annalisa Chiocchetti, Silvio Polizzi, Josef Vuch, Diego Vozzi, Anna Mondino, Erica Valencic, Serena Pastore, Andrea Taddio, Flavio Faletra, Umberto Dianzani, Ugo Ramenghi, Qing Zhou, Xiaomin Yu, Erkan Demirkaya, Natalie Deuitch, Deborah Stone, Wanxia Tsai, Amanda Ombrello, Tina Romeo, Elaine F. Remmers, JaeJin Chae, Massimo Gadina, Steven Welch, Seza Ozen, Rezan Topaloglu, Mario Abinun, Daniel L. Kastner, Ivona Aksentijevich, Donatella Vairo, Rosalba Monica Ferraro, Giulia Zani, Jessica Galli, Micaela De Simone, Marco Cattalini, Elisa Fazzi, Silvia Giliani, Ebun Omoyinmi, Ariane Standing, Dorota Rowczenio, Annette Keylock, Sonia Melo Gomes, Fiona Price-Kuehne, Sira Nanthapisal, Claire Murphy, Thomas Cullup, Lucy Jenkins, Kimberly Gilmour, Despina Eleftheriou, Helen Lachmann, Philip Hawkins, Nigel Klein, Paul Brogan, Anita Dhanrajani, Mercedes Chan, Stephanie Pau, Janet Ellsworth, Jaime Guzman, Florence A. Aeschlimann, Marinka Twilt, Simon W. Eng, Shehla Sheikh, Ronald M. Laxer, Diane Hebert, Damien Noone, Christian Pagnoux, Susanne M. Benseler, Rae S. Yeung, Christoph Kessel, Katrin Lippitz, Toni Weinhage, Claas Hinze, Helmut Wittkowski, Dirk Holzinger, Niklas Grün, Dirk Föll, Pieter Van Dijkhuizen, Federica Del Chierico, Clara Malattia, Alessandra Russo, Denise Pires Marafon, Nienke M. ter Haar, Silvia Magni-Manzoni, Sebastiaan J. Vastert, Bruno Dallapiccola, Berent Prakken, Fabrizio De Benedetti, Lorenza Putignani, Berna Eren Fidanci, Kenan Barut, Serap Arıcı, Dogan Simsek, Mustafa Cakan, Ezgi D. Batu, Sezgin Şahin, Ayşenur Kısaarslan, Ebru Yilmaz, Özge Basaran, Ferhat Demir, Kubra Ozturk, Zübeyde Gunduz, Betül Sozeri, Balahan Makay, Nuray Ayaz, Onder Yavascan, Ozlem Aydog, Yelda Bilginer, Zelal Ekinci, Dilek Yıldız, Faysal Gök, Muferret Erguven, Erbil Unsal, Ozgur Kasapcopur, For the FMF Arthritis Vasculitis and Orphan Disease Research in Paediatric Rheumatology (FAVOR), Hafize E. Sönmez, Betül Sözeri, Yonatan Butbul, Seza Özen, Claudia Bracaglia, Giusi Prencipe, Manuela Pardeo, Geneviève Lapeyre, Emiliano Marasco, Walter Ferlin, Robert Nelson, Cristina de Min, N. Ruperto, H. I. Brunner, P. Quartier, T. Constantin, E. Alexeeva, K. Marzan, N. Wulffraat, R. Schneider, S. Padeh, V. Chasnyk, C. Wouters, J. B. Kuemmerle-Deschner, T. Kallinich, B. Lauwerys, E. Haddad, E. Nasonov, M. Trachana, O. Vougiouka, K. Leon, E. Vritzali, A. Martini, D. Lovell, PRINTO/PRCSG, Stefano Volpi, Claudia Pastorino, Francesca Kalli, Alessia Omenetti, Sabrina Chiesa, Arinna Bertoni, Paolo Picco, Gilberto Filaci, Elisabetta Traggiai, Marie-Louise Fremond, Naoki Kitabayashi, Olivero Sacco, Isabelle Meyts, Marie-Anne Morren, Carine Wouters, Eric Legius, Isabelle Callebaut, Christine Bodemer, Frederic Rieux-Laucat, Mathieu Rodero, Nadia Jeremiah, Alexandre Belot, Eric Jeziorski, Didier Bessis, Guilhem Cros, Gillian I. Rice, Bruno Charbit, Anne Hulin, Nihel Khoudour, Consuelo Modesto Caballero, Monique Fabre, Laureline Berteloot, Muriel Le Bourgeois, Philippe Reix, Thierry Walzer, Despina Moshous, Stéphane Blanche, Alain Fischer, Brigitte Bader-Meunier, Frédéric Rieux-Laucat, K. Annink, N. ter Haar, S. Al-Mayouf, G. Amaryan, K. Barron, S. Benseler, P. Brogan, L. Cantarini, M. Cattalini, A. Cochino, F. Dedeoglu, A. De Jesus, O. Dellacasa, E. Demirkaya, P. Dolezalova, K. Durrant, G. Fabio, R. Gallizzi, R. Goldbach-Mansky, E. Hachulla, V. Hentgen, T. Herlin, M. Hofer, H. Hoffman, A. Insalaco, A. Jansson, I. Koné-Paut, A. Kozlova, J. Kuemmerle-Deschner, R. Laxer, S. Nielsen, I. Nikishina, A. Ombrello, E. Papadopoulou-Alataki, A. Ravelli, D. Rigante, R. Russo, Y. Uziel, Nienke ter Haar, Jerold Jeyaratnam, Anna Simon, Matteo Doglio, Jordi Anton, Consuelo Modesto, Pierre Quartier, Esther Hoppenreijs, Luca Cantarini, Loredana Lepore, Inmaculada Calvo Penades, Christina Boros, Rita Consolini, Donato Rigante, Ricardo Russo, Jana Pachlopnik Schmid, Thirusha Lane, Nicolino Ruperto, Joost Frenkel, Chiara Passarelli, Elisa Pisaneschi, Virginia Messia, Antonio Novelli, Fabrizio Debenedetti, P. A. Brogan, X. Wei, Martina Finetti, Francesca Orlando, Elisabetta Cortis, Angela Miniaci, Nicola Ruperto, Charlotte Eijkelboom, Pavla Dolezalova, Isabelle Koné-Paut, Marija Jelusic-Drazic, Liliana Bezrodnik, Mari Carmen Pinedo, Valda Stanevicha, Marielle van Gijn, Silvia Federici, Hermann Girschick, Gerd Ganser, Susan Nielsen, Troels Herlin, Sulaiman Mohammed Al-Mayouf, Michael Hofer, Jasmin Kuemmerle-Deschner, Susanne Schalm, Annette Jansson, on behalf of PRINTO and Eurofever registry, Marta Marchi, Chiara Marini, Angelo Ravelli, Alberto Garaventa, Sonia Carta, Enrica Balza, Patrizia Castellani, Caterina Pellecchia, Silvia Borghini, Maria Libera Trotta, Anna Rubartelli, Andrew Henrey, Thomas Loughin, Roberta Berard, Natalie Shiff, Roman Jurencak, Susanne Benseler, Lori Tucker, on behalf of ReACCh-Out Investigators, Charalampia Papadopoulou, Ying Hong, Petra Krol, Yiannis Ioannou, Clarissa Pilkington, Hema Chaplin, Stephania Simou, Marietta Charakida, Lucy Wedderburn, Lynn R. Spiegel, Sara Ahola Kohut, Jennifer Stinson, Paula Forgeron, Miriam Kaufman, Nadia Luca, Khush Amaria, Mary Bell, J Swart, F. Boris, E. Castagnola, A. Groll, G. Giancane, G. Horneff, H. I. Huppertz, T. Wolfs, E. Alekseeva, V. Panaviene, F. Uettwiller, V. Stanevicha, L. M. Ailioaie, E. Tsitami, S. Kamphuis, G. Susic, F. Sztajnbok, B. Flato, A. Pistorio, Stephanie J. W. Shoop, Suzanne M. M. Verstappen, Janet E. McDonagh, Wendy Thomson, Kimme L. Hyrich, CAPS, Maarit Tarkiainen, Pirjo Tynjala, Pekka Lahdenne, Janne Martikainen, Acute-JIA Study Group, Meredyth Wilkinson, Christopher Piper, Georg Otto, Claire T. Deakin, Stefanie Dowle, Stefania Simou, Daniel Kelberman, Claudia Mauri, Elizabeth Jury, David Isenberg, Lucy R. Wedderburn, Kiran Nistala, I. Foeldvari, D. J. Lovell, G. Simonini, M. Bereswill, J. Kalabic, Kiem Oen, Brian M. Feldman, Brenden Dufault, Jennifer Lee, Karen Watanabe Duffy, Ciaran Duffy, ReACCh-Out Investigators, N. Tzaribachev, G. Vega-Cornejo, I. Louw, A. Berman, I. Calvo, R. Cuttica, F. Avila-Zapata, R. Cimaz, E. Solau-Gervais, R. Joos, G. Espada, X. Li, M. Nys, R. Wong, S. Banerjee, For Pediatric Rheumatology International Trials Organization (PRINTO)/Pediatric Rheumatology Collaborative Study Group (PRCSG), Rebecca Nicolai, Margherita Verardo, Adele D’Amico, Luisa Bracci-Laudiero, Gian Marco Moneta, Gillian Rice, Anne-Laure Mathieu, Sulliman O. Omarjee, Tracy A. Briggs, James O’Sullivan, Simon Williams, Rolando Cimaz, Eve Smith, Michael W. Beresford, Yanick J. Crow, GENIAL Investigators, UK JSLE Study Group, Madeleine Rooney, Nick Bishop, joyce davidson, Clarissa pilkington, Michael Beresford, Jacqui Clinch, Rangaraj Satyapal, Helen Foster, Janet Gardner Medwin, Janet McDonagh, Sue Wyatt, On Behalf of the British Society for Paediatric and Adolescent Rheumatology, Valentina Litta Modignani, Francesco Baldo, Stefano Lanni, Alessandro Consolaro, Giovanni Filocamo, Helen J. Lachmann, on behalf of Eurofever Registry, Gianmarco Moneta, Camilla Celani, Bilade Cherqaoui, Linda Rossi-Semerano, Perrine Dusser, Véronique Hentgen, Claire Grimwood, Linda Rossi, Isabelle Kone Paut, Veronique Hentgen, Denise Lasigliè, Denise Ferrera, Giulia Amico, Marco Di Duca, Laura Obici, Roberto Ravazzolo, Ryuta Nishikomori, Juan Arostegui, Andrea Petretto, Chiara Lavarello, Elvira Inglese, Federica Vanoni, Michaël Hofer, on behalf of EUROFEVER PROJECT, P. N. Hawkins, T. van der Poll, U. A. Walker, H. H. Tilson, Pascal N. Tyrrell, Raphaela Goldbach-Mansky, Norbert Blank, Hal M. Hoffman, Elisabeth Weissbarth-Riedel, Boris Huegle, Tilmann Kallinich, Ahmet Gul, Marlen Oswald, Fatma Dedeoglu, Aki Hanaya, Takako Miyamae, Manabu Kawamoto, Yumi Tani, Takuma Hara, Yasushi Kawaguchi, Satoru Nagata, Hisashi Yamanaka, Almira Ćosićkić, Fahrija Skokić, Belkisa Čolić, Sanimir Suljendić, Anna Kozlova, Irina Mersiyanova, Mariya Panina, Lily Hachtryan, Vasiliy Burlakov, Elena Raikina, Alexey Maschan, Anna Shcherbina, Banu Acar, Meryem Albayrak, Betul Sozeri, Sezgin Sahin, Amra Adrovic, Nese Inan, Serhan Sevgi, Caroline M. Andreasen, Anne Grethe Jurik, Mia B. Glerup, Christian Høst, Birgitte T. Mahler, Ellen-Margrethe Hauge, Cecilia Lazea, Laura Damian, Calin Lazar, Rodica Manasia, Chloe M. Stephenson, Vimal Prajapati, Paivi M. Miettunen, Dilek Yılmaz, Yavuz Tokgöz, Yasin Bulut, Harun Çakmak, Ferah Sönmez, Elif Comak, Gülşah Kaya Aksoy, Mustafa Koyun, Sema Akman, Yunus Arıkan, Ender Terzioğlu, Osman Nidai Özdeş, İbrahim Keser, Hüseyin Koçak, Ayşen Bingöl, Aygen Yılmaz, Reha Artan, X. Xu, Fatemeh F. Mehregan, Vahid Ziaee, Mohammad H. Moradinejad, Francesco La Torre, Clotilde Alizzi, Pio D’Adamo, G. Junge, J. Gregson, Hasmik Sargsyan, Hulya Zengin, Berna E. Fidanci, Cagla Kaymakamgil, Dilek Konukbay, Dilek Yildiz, Faysal Gok, Iris Stoler, Judith Freytag, Banu Orak, Christine Seib, Lars Esmann, Eva Seipelt, Faekah Gohar, Dirk Foell, Ismail Dursun, Sebahat Tulpar, Sibel Yel, Demet Kartal, Murat Borlu, Funda Bastug, Hakan Poyrazoglu, Zubeyde Gunduz, Kader Kose, Mehmet E. Yuksel, Abdullah Calıskan, Ahmet B. Cekgeloglu, Ruhan Dusunsel, Katerina Bouchalova, Jana Franova, Marcel Schuller, Marie Macku, Katerina Theodoropoulou, Raffaella Carlomagno, Annette von Scheven-Gête, Claudia Poloni, Laura O. Damian, Dan Cosma, Amanda Radulescu, Dan Vasilescu, Liliana Rogojan, Simona Rednic, Mihaela Lupse, Lien De Somer, Pierre Moens, Rocio Galindo Zavala, Laura Martín Pedraz, Esmeralda Núñez Cuadros, Gisela Díaz-Cordovés Rego, Antonio L. Urda Cardona, Ilaria Dal Forno, Sara Pieropan, Ombretta Viapiana, Davide Gatti, Gloria Dallagiacoma, Paola Caramaschi, Domenico Biasi, Daniel Windschall, Ralf Trauzeddel, Hartwig Lehmann, Rainer Berendes, Maria Haller, Manuela Krumrey-Langkammerer, Antje Nimtz-Talaska, Philipp Schoof, Ralf Felix Trauzeddel, Christine Nirschl, Estefania Quesada-Masachs, Carla Aguilar Blancafort, Sara Marsal Barril, Francisca Aguiar, Rita Fonseca, Duarte Alves, Ana Vieira, Alberto Vieira, Jorge A. Dias, Iva Brito, Gordana Susic, Vera Milic, Goran Radunovic, Ivan Boricic, Pauline Marteau, Catherine Adamsbaum, Michel De Bandt, Irène Lemelle, Chantal Deslandre, Tu Anh Tran, Anne Lohse, Elisabeth Solau-Gervais, Pascal Pillet, Julien Wipff, Cécile Gaujoux-Viala, Sylvain Breton, Valérie Devauchelle-Pensec, Sandra Gran, Olesja Fehler, Stefanie Zenker, Michael Schäfers, Thomas Vogl, Severine Guillaume Czitrom, EH Pieter Van Dijkhuizen, Silvia Magni Manzoni, Francesca Magnaguagno, Laura Tanturri de Horatio, Nienke M. Ter Haar, Annemieke S. Littooij, Vitor A. Teixeira, Raquel Campanilho-Marques, Ana F. Mourão, Filipa O. Ramos, Manuela Costa, Wafa A. Madan, Orla G. Killeen, Adriana Rodriguez Vidal, Diana Sueiro Delgado, Maria Isabel Gonzalez Fernandez, Berta Lopez Montesinos, Aleksey Kozhevnikov, Nina Pozdeeva, Mikhail Konev, Evgeniy Melchenko, Vladimir Kenis, Gennadiy Novik, Aysenur Pac Kısaarslan, Butsabong Lerkvaleekul, Suphaneewan Jaovisidha, Witaya Sungkarat, Niyata Chitrapazt, Praman Fuangfa, Thumanoon Ruangchaijatuporn, Soamarat Vilaiyuk, Dan Ø. Pradsgaard, Arne Hørlyck, Anne H. Spannow, Carsten W. Heuck, Talia Diaz, Fernando Garcia, Lorenia De La Cruz, Nadina Rubio, Joanna Świdrowska-Jaros, Elzbieta Smolewska, Mirta Lamot, Lovro Lamot, Mandica Vidovic, Edi Paleka Bosak, Ivana Rados, Miroslav Harjacek, Nikolay Tzaribachev, Polymnia Louka, Romiesa Hagoug, Chiara Trentin, Olga Kubassova, Mark Hinton, Mikael Boesen, Olena A. Oshlianska, Illya A. Chaikovsky, G. Mjasnikov, A. Kazmirchyk, Umberto Garagiola, Irene Borzani, Paolo Cressoni, Fabrizia Corona, Eszter Dzsida, Giampietro Farronato, Antonella Petaccia, Alenka Gagro, Agneza Marija Pasini, Goran Roic, Ozren Vrdoljak, Lucija Lujic, Matija Zutelija-Fattorini, Monika M. Esser, Deepthi R. Abraham, Craig Kinnear, Glenda Durrheim, Mike Urban, Eileen Hoal, Victoria B. Nikolayenko, Kubilay Şahin, Yasar Karaaslan, Adele Civino, Giovanni Alighieri, Sergio Davì, Roberto Rondelli, Andrea Magnolato, Francesca Ricci, Alma Olivieri, Valeria Gerloni, Bianca Lattanzi, Francesca Soscia, Alessandro De Fanti, Stefania Citiso, Lorenzo Quartulli, Maria Cristina Maggio, Manuela Marsili, Maria Antonietta Pelagatti, Valentino Conter, Franca Fagioli, Andrea Pession, Marco Garrone, Mariangela Rinaldi, Jaime De Inocencio, Stella Garay, Daniel J. Lovell, Berit Flato, EPOCA Study Group, Angela Aquilani, Simona Cascioli, Ivan Caiello, Denise Pires-Marafón, Rita Carsetti, Emily Robinson, Salvatore Albani, Wilco de Jager, Sytze de Roock, Trang Duong, Justine Ellis, Kimme Hyrich, Laetitia Jervis, Daniel Lovell, Lucy Marshall, Elizabeth D. Mellins, Kirsten Minden, Jane Munro, Peter A. Nigrovic, Jason Palman, Sunil Sampath, Laura E. Schanberg, Susan D. Thompson, Richard Vesely, Chris Wallace, Chris Williams, Qiong Wu, Nico Wulffraat, Rae S. M. Yeung, M. B. Seyger, D. Arikan, J. K. Anderson, A. Lazar, D. A. Williams, C. Wang, R. Tarzynski-Potempa, J. S. Hymans, Gabriele Simonini, Erika Scoccimarro, Irene Pontikaki, Teresa Giani, Alessandro Ventura, Pier Luigi Meroni, Gaetana Minnone, Marzia Soligo, Luigi Manni, Luisa Bracci Laudiero, Noortje Groot, I. Grein, N. M. Wulffraat, R. Schepp, G. Berbers, C. C. Barbosa Sandoval de Souza, V. Paes Leme Ferriani, G. Pileggi, S. de Roock, Ingrid H. R. Grein, Silvia Scala, Elisa Patrone, Casper Schoemaker, on behalf of Dutch JIA patient organization, Wendy Costello, on behalf of ENCA, Suzanne Parsons, Jean-David Cohen, Damien Bentayou, Marc-Antoine Bernard Brunel, Sonia Trope, Jens Klotsche, Miriam Listing, Martina Niewerth, Gerd Horneff, Angelika Thon, Hans-Iko Huppertz, Kirsten Mönkemöller, Ivan Foeldvari, ICON study group, Achille Marino, Stefano Stagi, Niccolò Carli, Federico Bertini, Adriana S. Díaz-Maldonado, Sally Pino, Pilar Guarnizo, Alfonso Ragnar Torres-Jimenez, Berenice Sanchez-Jara, Eunice Solis-Vallejo, Adriana Ivonne Cespedes-Cruz, Maritza Zeferino-Cruz, Julia Veronica Ramirez-Miramontes, Ankur Kumar, Anju Gupta, Deepti Suri, Amit Rawat, Nandita Kakkar, Surjit Singh, Özge A. Gücenmez, Erbil Ünsal, Bo Magnusson, Karina Mördrup, Anna Vermé, Christina Peterson, Board of the Swedish Pediatric Rheumatology Registry, Caroline Freychet, Jean Louis Stephan, Cathryn E. Harkness, Leanne Foster, Emma Henry, Pauline Taggart, Coskun F. Ozkececi, Esra Kurt, Gokalp Basbozkurt, Daiva Gorczyca, Jacek Postępski, Aleksandra Czajkowska, Bogumiła Szponar, Mariola Paściak, Anna Gruenpeter, Iwona Lachór-Motyka, Daria Augustyniak, Edyta Olesińska, Emediong S. Asuka, Tatyana Golovko, Samuel U. Aliejim, Emilio Inarejos Clemente, Estibaliz Iglesias Jimenez, Joan Calzada Hernandez, Sergi Borlan Fernandez, Clara Gimenez Roca, David Moreno Romo, Natalia Rodriguez Nieva, Juan Manuel Mosquera Angarita, Jordi Anton Lopez, Esmeralda Nuñez-Cuadros, Gisela Diaz-Cordovés, Rocío Galindo-Zavala, Antonio Urda-Cardona, Antonio Fernández-Nebro, Daniel Álvarez de la Sierra, Marina Garcia Prat, Mónica Martínez Gallo, Ricardo Pujol Borrell, Ana M. Marín Sánchez, Etienne Merlin, Sylvie Fraitag, Jean-Louis Stephan, Federico Annoni, Giancarla Di Landro, Sofia Torreggiani, Marta Torcoletti, Georgina Tiller, Jo Buckle, Angela Cox, Peter Gowdie, Roger C. Allen, Jonathan D. Akikusa, Hayde G. Hernández-Huirache, Edel R. Rodea-Montero, William Fahy, Christelle Sordet, Karin B. Berggren, Johanna T. Kembe, Joyce Bos, Wineke Armbrust, Marco van Brussel, Jeanette Cappon, Pieter Dijkstra, Jan Geertzen, Elizabeth Legger, Marion van Rossum, Pieter Sauer, Otto Lelieveld, Levent Buluc, Gur Akansel, Bahar Muezzinoglu, Ljubov Rychkova, Tatyana Knyazeva, Anna Pogodina, Tatyana Belova, Tamara Mandzyak, Ekaterina Kulesh, Alessandro Cafarotti, Cosimo Giannini, Roberta Salvatore, Giuseppe Lapergola, Caterina Di Battista, Maria Loredana Marcovecchio, Raffaella Basilico, Piernicola Pelliccia, Francesco Chiarelli, Luciana Breda, Beverley Almeida, Sarah Tansley, Harsha Gunawardena, Neil McHugh, Juvenile Dermatomyositis Research Group (JDRG), Jessie Aouizerate, Marie De Antonio, Christine Barnerias, Guillaume Bassez, Isabelle Desguerre, Romain Gherardi, Jean-Luc Charuel, François-Jérôme Authier, Cyril Gitiaux, C. H. Spencer, Rabheh Abdul Aziz, Chack-Yung Yu, Brent Adler, Sharon Bout-Tabaku, Katherine Lintner, Melissa Moore-Clingenpeel, Liza McCann, Nicola Ambrose, Mario Cortina-Borja, Juvenile Dermatomyositis Cohort and Biomarker Study (JCDBS), Prasad T. Oommen, Fabian Speth, Johannes-Peter Haas, Working Group “Juvenile Dermatomyositis” of the German Society for Paediatric and Adolescent Rheumatology (GKJR), Claudio Lavarello, Gabriella Giancane, Angela Pistorio, Lisa Rider, Rohit Aggarwal, Sheila K. Oliveira, Ruben Cuttica, Michel Fischbach, Gary Sterba, Karine Brochard, Frank Dressler, Patrizia Barone, Ruben Burgos-Vargas, Elizabeth Candell Chalom, Marine Desjonqueres, Graciela Espada, Anders Fasth, Stella Maris Garay, Rose-Marie Herbigneaux, Claire Hoyoux, Chantal Job Deslandre, Frederick W. Miller, Jiri Vencovsky, Erdal Sag, Gulsev Kale, Haluk Topaloglu, Beril Talim, Francesco Zulian, Tadej Avcin, Roberto Marini, Anne Pagnier, Michel Rodiere, Christine Soler, Rebecca Ten Cate, Yosef Uziel, Jelena Vojinovic, Ana V. Villarreal, Nydia Acevedo, Yuridiana Ramirez, Enrique Faugier, Rocio Maldonado, Bita Arabshahi, John H. Lee, Ian Leibowitz, Lawrence O. Okong’o, Jo Wilmshurst, Monika Esser, Christiaan Scott, Ezgi Deniz Batu, Nagehan Emiroglu, Hafize Emine Sonmez, Gokcen Dilsa Tugcu, Zehra Serap Arici, Ebru Yalcin, Deniz Dogru, Ugur Ozcelik, Mithat Haliloglu, Nural Kiper, Masato Yashiro, Mutsuko Yamada, Toshihiko Yabuuchi, Tomonobu Kikkawa, Nobuyuki Nosaka, Yosuke Fujii, Yukie Saito, Hirokazu Tsukahara, Sulaiman M. Al-Mayouf, Nora AlMutiari, Mohammed Muzaffer, Rawiah shehata, Adel Al-Wahadneh, Reem Abdwani, Safia Al-Abrawi, Mohammed Abu-shukair, Zeyad El-Habahbeh, Abdullah Alsonbul, Aleksandra Szabat, Monika Chęć, Violetta Opoka-Winiarska, Biman Saikia, Ranjana W. Minz, Christine Arango, Clara Malagon, Maria D. P. Gomez, Angela C. Mosquera, Ricardo Yepez, Tatiana Gonzalez, Camilo Vargas, GRIP study group, Marta Balzarin, Biagio Castaldi, Elena Reffo, Francesca Sperotto, Giorgia Martini, Alessandra Meneghel, Ornella Milanesi, Ozgur Kasapçopur, Maria Teresa Terreri, Ekaterina Alexeeva, Maria Katsicas, Mikhail Kostik, Thomas Lehman, W.-Alberto Sifuentes-Giraldo, Vanessa Smith, Flavio Sztajnbok, Tadey Avcin, Maria Jose Santos, Dana Nemcova, Cristina Battagliotti, Liora Harel, Mahesh Janarthanan, Kathryn Torok, Nicola Helmus, Eileen Baildem, Michael Blakley, Kim Fligelstone, Antonia Kienast, Clare Pain, Amanda Saracino, Gabriele Simoni, Lisa Weibel, Maria K. Osminina, Nathalia A. Geppe, Olga V. Niconorova, Olesya V. Karashtina, Oksana V. Abbyasova, Olga V. Shpitonkova, Sinem Durmus, Hafize Uzun, Angela Mauro, Eleonora Fanti, Fabio Voller, Franca Rusconi, Fernando Garcia-Rodriguez, Ana V. Villarreal-Treviño, Angel J. Flores-Pineda, Paola B. Lara-Herrea, Diego R. Salinas-Encinas, Talia Diaz-Prieto, Maria R. Maldonado-Velazquez, Sarbelio Moreno-Espinosa, Enrique Faugier-Fuentes, Mirella Crapanzano, Ilaria Parissenti, Man S. Parihar, Pandiarajan Vignesh, ManojKumar Rohit, Kavitha Gopalan, Savita V. Attri, Alan Salama, David Jayne, Mark Little, Yulia Kostina, Galina Lyskina, Olga Shpitonkova, Alena Torbyak, Olga Shirinsky, Maria Francesca Gicchino, Maria Cristina Smaldone, Mario Diplomatico, Alma Nunzia Olivieri, C H. Spencer, Richard McClead, Hiren Patel, Chung-Yung Yu, Dita Cebecauerová, Tomáš Dallos, Edita Kabíčková, Martin Kynčl, Daniela Chroustová, Jozef Hoza, Dana Němcová, Vladimír Tesař, Pavla Doležalová, Tuncay Hazirolan, Fatih Ozaltin, Fabiola Almeida, Isabela H. Faria de Paula, Maíra M. Sampaio, Fernando N. Arita, Andressa G. Alves, Maria Carolina Santos, Eunice M. Okuda, Silvana B. Sacchetti, Fernanda Falcini, Marini Francesca, Gemma Lepri, Marco Matucci-Cerinic, Maria Luisa Brandi, Hakan Kisaoglu, Sema Misir, Selim Demir, Yuksel Aliyazicioglu, Mukaddes Kalyoncu, Carlos Eduardo Ramalho, Fabiola D. Almeida, Joan Calzada-Hernández, Rosa Bou, Estíbaliz Iglesias, Judith Sánchez-Manubens, Fredy Hermógenes Prada Martínez, Clara Giménez Roca, Sergi Borlan Fernández, Marek Bohm, Kamran Mahmood, Valentina Leone, Mark Wood, Ken-Ichi Yamaguchi, Satoshi Fujikawa, Working Group of Behçet’s Disease, Pediatric Rheumatology Association of Japan (PRAJ), Kyu Yeun Kim, Do Young Kim, Dong Soo Kim, Maka Ioseliani, Ivane Chkhaidze, Maia Lekishvili, Nana Tskhakaia, Shorena Tvalabeishvili, Aleksandre Kajrishvili, Maiko Takakura, Masaki Shimizu, Natsumi Inoue, Mao Mizuta, Akihiro Yachie, Giovanni Corsello, Maryam Piram, Carla Maldini, Sandra Biscardi, Nathalie Desuremain, Catherine Orzechowski, Emilie Georget, Delphine Regnard, Isabelle Kone-Paut, Alfred Mahr, Mihaela Sparchez, Zeno Sparchez, Nydia Acevedo Silva, Ana V. Villarreal Treviño, Yuridiana Ramirez Loyola, Talia Diaz Prieto, Enrique Faugier Fuentes, Maria D. R. Maldonado Velazquez, Pilar Perez, Sagar Bhattad, Ranjana Minz, Jitendra Shandilya, Pediatric Allergy and Immunology Unit, PGIMER, Chandigarh, Ana Villarreal, Yuridiana Ramírez, Zeynep Birsin Özçakar, Suat Fitoz, Fatos Yalcinkaya, Annacarin Horne, Francesca Minoia, Francesca Bovis, Sergio Davi, Priyankar Pal, Kimo Stein, Sandra Enciso, Michael Jeng, Despoina Maritsi, Randy C. Cron, Anne Thorwarth, Sae Lim von Stuckrad, Angela Rösen-Wolff, Hella Luksch, Patrick Hundsdoerfer, Peter Krawitz, Nuray Aktay Ayaz, Doğan Simsek, Şebnem Sara Kılıc, Emine Sonmez, Aysenur Pac Kisaarslan, Ozge Altug Gucenmez, Z. Serap Arıcı, Fatih Kelesoglu, Zelal Ekinci Ekinci, Maria Miranda-Garcia, Carolin Pretzer, Michael Frosch, F. Gohar, Angela McArdle, Niamh Callan, Belinda Hernandez, Miha Lavric, Oliver FitzGerald, Stephen R. Pennington, Joachim Peitz, Joern Kekow, Ariane Klein, Anna C. Schulz, Frank Weller-Heinemann, Anton Hospach, J-Peter Haas, BIKER collaborative group, Karen Put, Jessica Vandenhaute, Anneleen Avau, Annemarie van Nieuwenhuijze, Ellen Brisse, Tim Dierckx, Omer Rutgeerts, Josselyn E. Garcia-Perez, Jaan Toelen, Mark Waer, Georges Leclercq, An Goris, Johan Van Weyenbergh, Adrian Liston, Patrick Matthys, Carine H. Wouters, Yasuo Nakagishi, Michael J. Ombrello, Victoria Arthur, Anne Hinks, Patricia Woo, International Childhood Arthritis Genetics (INCHARGE) Consortium, Barbara Stanimirovic, Biljana Djurdjevic-Banjac, Olivera Ljuboja, Boris Hugle, MArgarita Onoufriou, Olga Vougiouka, Kenza Bouayed, Sanae El Hani, Imane Hafid, Nabiha Mikou, Nunu Shelia, Mari Laan, Jaanika Ilisson, and Chris Pruunsild

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2017
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9. Outcomes of SARS-CoV-2 infection among children and young people with pre-existing rheumatic and musculoskeletal diseases

Author

Lianne, Kearsley-Fleet, Min-Lee, Chang, Saskia, Lawson-Tovey, Ruth, Costello, Šárka, Fingerhutová, Natálie, Švestková, Alexandre, Belot, Florence A, Aeschlimann, Isabelle, Melki, Isabelle, Koné-Paut, Sascha, Eulert, Tilmann, Kallinich, Yackov, Berkun, Yosef, Uziel, Bernd, Raffeiner, Filipa, Oliveira Ramos, Daniel, Clemente, Christina, Dackhammar, Nico M, Wulffraat, Helen, Waite, Anja, Strangfeld, Elsa F, Mateus, Pedro M, Machado, Marc, Natter, and Kimme L, Hyrich

Subjects
Adolescent, SARS-CoV-2, Immunology, COVID-19, Arthritis, Juvenile, General Biochemistry, Genetics and Molecular Biology, Young Adult, Rheumatology, Rheumatic Diseases, Humans, Immunology and Allergy, Musculoskeletal Diseases, Obesity, Child
Abstract

ObjectivesSome adults with rheumatic and musculoskeletal diseases (RMDs) are at increased risk of COVID-19-related death. Excluding post-COVID-19 multisystem inflammatory syndrome of children, children and young people (CYP) are overall less prone to severe COVID-19 and most experience a mild or asymptomatic course. However, it is unknown if CYP with RMDs are more likely to have more severe COVID-19. This analysis aims to describe outcomes among CYP with underlying RMDs with COVID-19.MethodsUsing the European Alliance of Associations for Rheumatology COVID-19 Registry, the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Registry, and the CARRA-sponsored COVID-19 Global Paediatric Rheumatology Database, we obtained data on CYP with RMDs who reported SARS-CoV-2 infection (presumptive or confirmed). Patient characteristics and illness severity were described, and factors associated with COVID-19 hospitalisation were investigated.Results607 CYP with RMDs ConclusionsThis is the most significant investigation to date of COVID-19 in CYP with RMDs. It is important to note that the majority of CYP were not hospitalised, although those with severe systemic RMDs and obesity were more likely to be hospitalised.

Published
2022

10. Auto-immunité en pédiatrie : Réflexions du praticien à propos de deux cas de rhumatologie pédiatrique

Author

Florence A. Aeschlimann and Raffaella Carlomagno

Subjects
General Earth and Planetary Sciences, General Environmental Science
Abstract

Les arthrites juvéniles idiopathiques (AJI) sont un groupe hétérogène d’arthrites inflammatoires. C’est un diagnostic d’exclusion et clinique, défini par une arthrite d’étiologie inconnue qui débute avant le 16è anniversaire et dure au moins 6 semaines. La biologie inflammatoire peut soutenir le diagnostic, mais sa présence n’est pas obligatoire. La présence ou absence de facteurs anti-nucléaires (FAN) ne prouve ni n’exclut le diagnostic d’AJI, mais leur recherche est importante pour définir le risque d’uvéite asymptomatique, notamment chez les jeunes enfants. L’AJI polyarticulaire avec facteurs rhumatoïdes et anti-CCP est rare, elle touche surtout les adolescentes et est équivalente à la polyarthrite rhumatoïde de l’adulte. Le rash malaire et les cytopénies décrits chez notre patiente sont inhabituels dans l’AJI et doivent faire rechercher d’autres diagnostics.

Published
2022

11. Early Systemic Inflammation Induces Neurodevelopmental Disorders: Results from Artemis, a French Multicenter Study of Juvenile Rheumatisms and Systemic Autoimmune and Auto-Inflammatory Disorders and Meta-Analysis

Author

Pierre Ellul, Isabelle Melki, Stephanie Antoun, Laura Lavialle, Eric Acquaviva, Florence A. Aeschlimann, Brigitte Bader-Meunier, Alexandre Belot, Glory Dingulu, Cecile Dumaine, Albert Faye, Marie-Louise Frémond, Ulrich Meinzer, Hugo Peyre, Pierre Quartier, Michelle Rosenzwajg, Isabelle Savioz, Caroline Vinit, Nicolas Tchitchek, David Klatzmann, Richard Delorme, Service psychiatrique de l'enfant et de l'adolescent [CHU Hôpital Robert Debré], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Robert Debré, CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre de Référence pour les Maladies Rhumatologiques Auto-Immunes et Systémiques [CHU Necker] (RAISE), CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Hôpital Robert Debré, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Réponse immunitaire innée dans les maladies infectieuses et auto-immunes – Innate immunity in infectious and autoimmune diseases, Centre International de Recherche en Infectiologie (CIRI), École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-École normale supérieure de Lyon (ENS de Lyon)-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Service de néphrologie, rhumatologie et dermatologie pédiatriques [Hôpital Femme Mère Enfant, HCL], Hospices Civils de Lyon (HCL)-Hôpital Mère Enfant, Hôpital Robert Debré Paris, Epidémiologie Clinique et Evaluation Economique Appliquées aux Populations Vulnérables (ECEVE (U1123 / UMR_S_1123)), Institut National de la Santé et de la Recherche Médicale (INSERM)-AP-HP Hôpital universitaire Robert-Debré [Paris], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Université Paris Cité (UPCité), Biologie et Génétique de la Paroi bactérienne - Biology and Genetics of Bacterial Cell Wall, Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS), Centre de recherche sur l'Inflammation (CRI (UMR_S_1149 / ERL_8252 / U1149)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre de référence des rhumatismes inflammatoires et maladies autoimmunes systémiques rares de l'enfant [Paris] (RAISE), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), Immunologie - Immunopathologie - Immunothérapie [CHU Pitié Salpêtrière] (I3), CHU Charles Foix [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU), Génétique humaine et fonctions cognitives - Human Genetics and Cognitive Functions (GHFC (UMR_3571 / U-Pasteur_1)), Institut Pasteur [Paris] (IP)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), and The authors received funding from DM’UP (Robert Debré).

Subjects
Cellular and Molecular Neuroscience, Psychiatry and Mental health, History, Polymers and Plastics, [SDV.IMM]Life Sciences [q-bio]/Immunology, Business and International Management, Molecular Biology, Industrial and Manufacturing Engineering
Abstract

International audience

Published
2022

12. Comment on: Monogenic mimics of Behçet’s disease in the young

Author

Frédéric Rieux-Laucat, Serge Romana, Brigitte Bader-Meunier, Pierre Quartier, Marie-Claude Stolzenberg, Florence A Aeschlimann, Stanislas Lyonnet, and Marta Bustaffa

Subjects
medicine.medical_specialty, Rheumatology, business.industry, Behcet Syndrome, MEDLINE, Humans, Medicine, Genetic Predisposition to Disease, Pharmacology (medical), Behcet's disease, business, medicine.disease, Dermatology
Published
2019

13. Presentation and Disease Course of Childhood‐Onset Versus Adult‐Onset Takayasu Arteritis

Author

Marinka Twilt, Christian Pagnoux, Diane Hebert, Nader Khalidi, Florence A. Aeschlimann, Ronald M. Laxer, Roaa Alsolaimani, Rae S. M. Yeung, Lillian Barra, Damien Noone, and Susanne M. Benseler

Subjects
Adult, Male, Pediatrics, medicine.medical_specialty, Delayed Diagnosis, Adolescent, Immunology, Disease, 030204 cardiovascular system & hematology, Cohort Studies, 03 medical and health sciences, Renal Artery, 0302 clinical medicine, Rheumatology, Recurrence, medicine.artery, medicine, Humans, Immunology and Allergy, Age of Onset, Sex Distribution, Renal artery, Child, Disease burden, Retrospective Studies, Ontario, 030203 arthritis & rheumatology, Aortitis, business.industry, Retrospective cohort study, Takayasu Arteritis, Hypertension, Cohort, Disease Progression, Female, Age of onset, Presentation (obstetrics), business, Immunosuppressive Agents, Follow-Up Studies, Cohort study
Abstract

OBJECTIVE To compare the clinical features, efficacy and safety of treatment regimens, and outcomes of childhood- and adult-onset Takayasu arteritis (TAK). METHODS The study was designed as a retrospective cohort study comparing patients with childhood-onset TAK (from 1986 onward) to patients with adult-onset TAK (from 1988 onward) who were followed up until 2014 or 2015 at 4 centers in Ontario, Canada. Demographic, clinical, laboratory, and angiographic features, treatment regimens, and outcomes were recorded throughout the course of the disease. Disease activity and damage scores were completed retrospectively. RESULTS Twenty-nine children and 48 adults (median age at diagnosis 12.1 years and 31.2 years, respectively) were included. A lower predominance of females was observed among the childhood-onset TAK cohort (76% versus 100% of patients with adult-onset TAK; P < 0.01), and children had a shorter delay to diagnosis (median 6.0 months versus 12.2 months for adults; P = 0.03). The distribution of vascular involvement was also different, with children having significantly more aortic and renal artery involvement and a higher frequency of arterial hypertension. Relapses in the first year after diagnosis were common both in children (39%) and in adults (28%). Two children, but no adults, died. CONCLUSION Childhood-onset TAK has a lower female predominance and a higher frequency of aortic and renal involvement compared to adult-onset TAK. Relapses and disease burden were high in both groups, corroborating the need for careful monitoring of disease activity and aggressive therapeutic management.

Published
2018

14. Haploinsufficiency of A20 and other paediatric inflammatory disorders with mucosal involvement

Author

Ronald M. Laxer and Florence A Aeschlimann

Subjects
0301 basic medicine, Haploinsufficiency, Bioinformatics, TNFAIP3, 03 medical and health sciences, Rheumatology, Lymphadenitis, Humans, Medicine, Genetic Predisposition to Disease, Autoinflammatory disease, Child, Tumor Necrosis Factor alpha-Induced Protein 3, business.industry, Behcet Syndrome, Hereditary Autoinflammatory Diseases, Pharyngitis, Pyrin, Familial Mediterranean Fever, 030104 developmental biology, Mutation, Mutation (genetic algorithm), Stomatitis, Aphthous, Mevalonate Kinase Deficiency, business
Abstract

This review aims at summarizing the current knowledge of A20 haploinsufficiency and other paediatric inflammatory disorders with mucosal involvement.A20 haploinsufficiency is a newly described autoinflammatory disease caused by loss-of-function mutations in TNFAIP3 that result in the activation of the nuclear factor (NF)-kB pathway. Patients may present with dominantly inherited, early-onset systemic inflammation and a Behçet-like disease, or a variety of autoinflammatory and autoimmune features. In Behçet disease, recent literature provides insights into genetic susceptibility and emerging treatment options; in addition, the first paediatric classification criteria were published. Recent advances in periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome (PFAPA) suggest that the disease has a complex underlying genetic mechanism and in some cases is inherited in an autosomal dominant pattern with reduced penetrance phenotype in many family members. Activation of the pyrin inflammasome through the RoA signalling pathway uncovers an interesting molecular connection between hyperimmunoglobulinemia D syndrome and familial Mediterranean fever. The description of new monogenic types of inflammatory bowel disease (IBD) may provide novel insights into disease pathogenesis. Finally, recent studies highlighted the role of gut microorganisms and dysbiosis in IBD.Monogenic diseases such as A20 haploinsufficiency may help to advance our understanding of disease pathogenesis and to develop targeted therapies for more common, multifactorial disorders with mucosal inflammation.

Published
2018

15. A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease

Author

Daniella M. Schwartz, Daniel L. Kastner, Florence A. Aeschlimann, Ronald M. Laxer, Ivona Aksentijevich, Patrycja Hoffmann, Helen L. Leavis, Ellen Go, Deborah L. Stone, Seza Ozen, Ahmet Gül, Ezgi Deniz Batu, Annet Van Royen-Kerkof, and Scott W. Canna

Subjects
0301 basic medicine, medicine.medical_specialty, Anti-nuclear antibody, Immunology, Lupus nephritis, Disease, Systemic inflammation, Biochemistry, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, autoinflammatory disease, Rheumatology, Internal medicine, medicine, Immunology and Allergy, Sex organ, ulcers, 030203 arthritis & rheumatology, Biochemistry, Genetics and Molecular Biology(all), business.industry, Autoantibody, medicine.disease, pediatric rheumatology, 030104 developmental biology, medicine.symptom, Haploinsufficiency, business, Genetics and Molecular Biology(all)
Abstract

ObjectivesThe association between mutations in TNFAIP3, encoding the NF-kB regulatory protein A20, and a new autoinflammatory disease has recently been recognised. This study aims at describing the clinical phenotypes and disease course of patients with A20 haploinsufficiency (HA20).MethodsData for all cases from the initial publication, and additional cases identified through collaborations since, were collected using standardised data collection forms.ResultsA total of 16 patients (13 female) from seven families with a genetic diagnosis of HA20 were included. The disease commonly manifested in early childhood (range: first week of life to 29 years of age). The main clinical symptoms were recurrent oral, genital and/or gastrointestinal ulcers (16/16), musculoskeletal (9/16) and gastrointestinal complaints (9/16), cutaneous lesions (8/16), episodic fever (7/16), and recurrent infections (7/16). Clinical phenotypes varied considerably, even within families. Relapsing-remitting disease course was most common, and one patient died. Laboratory abnormalities included elevated acute-phase reactants and fluctuating presence of various autoantibodies such as antinuclear antibodies (4/10 patients tested) and anti-dsDNA (2/5). Tissue biopsy of different sites revealed non-specific chronic inflammation (6/12 patients tested), findings consistent with class V lupus nephritis in one patient, and pustules and normal results in two patients each. All patients were treated: 4/16 received colchicine and 12/16 various immunosuppressive agents. Cytokine inhibitors effectively suppressed systemic inflammation in 7/9 patients.ConclusionsEarly-onset recurrent oral, genital and/or gastrointestinal ulcers are the hallmark feature of HA20. Frequency and intensity of other clinical manifestations varied highly. Treatment regimens should be based on disease severity, and cytokine inhibitors are often required to control relapses.

Published
2018

16. Reply

Author

Florence A, Aeschlimann, Rae S M, Yeung, Lillian, Barra, and Susanne M, Benseler

Subjects
Adult, Rheumatology, Immunology, Disease Progression, Humans, Immunology and Allergy, Child, Takayasu Arteritis
Published
2019

17. [Juvenile idiopathic arthritis]

Author

Florence, A Aeschlimann and Pierre, Quartier

Subjects
Uveitis, Humans, Rheumatic Fever, Child, Prognosis, Arthritis, Juvenile
Abstract

Juvenile idiopathic arthritis. Juvenile idiopathic arthritis (JIA) is the most common chronic inflammatory rheumatic disease in childhood. It comprises a heterogeneous group of disorders characterized by joint inflammation, extraarticular features including uveitis and, in some cases laboratory markers. Disease course, therapeutic management and prognosis vary depending on the underlying JIA category. Recent treatment advances, and especially the use of biologic agents, have significantly reduced JIA-associated morbidity. Current treatment approaches emphasize an early aggressive therapy aiming at delaying disease progression and improving outcome. However, disease may remain active into adulthood and ongoing careful monitoring is still necessary.Arthrites juvéniles idiopathiques. Les arthrites juvéniles idiopathiques représentent la maladie rhumatologique inflammatoire chronique la plus fréquente de l’enfant. C’est un groupe à présentation hétérogène, caractérisé par une atteinte articulaire, des symptômes extra-articulaires dont des uvéites et, dans certains cas, des marqueurs biologiques. L’évolution de la maladie, la prise en charge thérapeutique et le pronostic varient en fonction de la catégorie de l’arthrite. Les avances thérapeutiques récentes, en particulier l’introduction des agents biologiques, ont significativement diminué la morbidité associée à l’arthrite juvénile idiopathique. Une prise en charge précoce et moderne vise à ralentir la progression de la maladie et à améliorer le pronostic fonctionnel. Néanmoins, la maladie peut rester active à l’âge adulte et nécessite un suivi régulier.

Published
2019

18. Patterns of joint involvement in juvenile idiopathic arthritis and prediction of disease course: A prospective study with multilayer non-negative matrix factorization

Author

Florence A. Aeschlimann, Simon W. M. Eng, Rae S. M. Yeung, Mira van Veenendaal, Roberta A. Berard, Quaid Morris, and Alan M. Rosenberg

Subjects
Male, Arthritis, Juvenile, Knee Joints, 030204 cardiovascular system & hematology, Cohort Studies, 0302 clinical medicine, Skeletal Joints, Medicine and Health Sciences, 030212 general & internal medicine, Prospective Studies, Prospective cohort study, Child, Musculoskeletal System, Oligoarthritis, Feet, General Medicine, Wrist, Ankle Joints, 3. Good health, Arms, Child, Preschool, Cohort, Disease Progression, Legs, Medicine, Polyarthritis, Female, Anatomy, Research Article, musculoskeletal diseases, medicine.medical_specialty, Adolescent, 03 medical and health sciences, Psoriatic arthritis, Rheumatology, Predictive Value of Tests, Internal medicine, medicine, Rheumatoid factor, Humans, Preschool, business.industry, Ankles, Biology and Life Sciences, Infant, Toes, medicine.disease, Arthritis, Juvenile, Body Limbs, Joints, business
Abstract

Background Joint inflammation is the common feature underlying juvenile idiopathic arthritis (JIA). Clinicians recognize patterns of joint involvement currently not part of the International League of Associations for Rheumatology (ILAR) classification. Using unsupervised machine learning, we sought to uncover data-driven joint patterns that predict clinical phenotype and disease trajectories. Methods and findings We analyzed prospectively collected clinical data, including joint involvement using a standard 71-joint homunculus, for 640 discovery patients with newly diagnosed JIA enrolled in a Canada-wide study who were followed serially for five years, treatment-naïve except for nonsteroidal anti-inflammatory drugs (NSAIDs) and diagnosed within one year of symptom onset. Twenty-one patients had systemic arthritis, 300 oligoarthritis, 125 rheumatoid factor (RF)-negative polyarthritis, 16 RF-positive polyarthritis, 37 psoriatic arthritis, 78 enthesitis-related arthritis (ERA), and 63 undifferentiated arthritis. At diagnosis, we observed global hierarchical groups of co-involved joints. To characterize these patterns, we developed sparse multilayer non-negative matrix factorization (NMF). Model selection by internal bi-cross-validation identified seven joint patterns at presentation, to which all 640 discovery patients were assigned: pelvic girdle (57 patients), fingers (25), wrists (114), toes (48), ankles (106), knees (283), and indistinct (7). Patterns were distinct from clinical subtypes (P < 0.001 by χ2 test) and reproducible through external data set validation on a 119-patient, prospectively collected independent validation cohort (reconstruction accuracy Q2 = 0.55 for patterns; 0.35 for groups). Some patients matched multiple patterns. To determine whether their disease outcomes differed, we further subdivided the 640 discovery patients into three subgroups by degree of localization—the percentage of their active joints aligning with their assigned pattern: localized (≥90%; 359 patients), partially localized (60%–90%; 124), or extended (, Using unsupervised machine learning, Rae Yeung and colleagues uncover data-driven joint patterns that predict clinical phenotype and disease trajectories in JIA., Author summary Why was this study done? Juvenile idiopathic arthritis (JIA) is a heterogeneous childhood disease for which joint inflammation is the common denominator. The current classification system, the International League of Associations for Rheumatology (ILAR) subtypes, categorize patients according to the number of active joints (four or fewer versus five or more affected joints in the first six months of disease) with little evidence to support this cut-off. Grouping frequently co-involved joints into joint patterns may help to better classify patients and predict disease course. What did the researchers do and find? We analyzed baseline joint involvement data from 640 treatment-naïve patients from 16 Canadian centers participating in the Research in Arthritis in Canadian Children, Emphasizing Outcomes (ReACCh-Out) study between 2005 and 2010. We identified seven joint patterns that grouped frequently co-involved joints using multilayer non-negative matrix factorization (NMF), an unsupervised pattern recognition technique. We named these patterns as follows: pelvic girdle, fingers, wrists, toes, knees, ankles, and indistinct. These seven patterns described more homogenous groupings of joints than the ILAR subtypes and further stratified them. Throughout disease course, we found that patients with joint involvements largely overlapping their baseline patterns, i.e., those having localized involvement, continued to have the same active joints, whereas patients with nonlocalized involvement did not. Patients with localized joint involvement reached zero joint involvement faster than those with nonlocalized involvement. What do these findings mean? Patterns of joint involvement represent prognostic features that should be incorporated into a comprehensive JIA disease classification. Patients with nonlocalized joint involvement are at high risk of poor outcome. Grouping patients by joint pattern and degree of localization may help clinicians tailor treatments based on predicted disease trajectories.

Published
2019

19. A child with severe juvenile dermatomyositis treated with ruxolitinib

Author

Jean-Luc Charuel, Benedicte Neven, Christine Bodemer, Florence A Aeschlimann, Yanick J. Crow, Laurent Balu, Vincent Bondet, Elsa Saire, Marie-Louise Frémond, Darragh Duffy, Brigitte Bader-Meunier, Gillian I. Rice, Cyril Gitiaux, Service d'immuno-hématologie pédiatrique [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Immunobiologie des Cellules dendritiques, Institut Pasteur [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), University of Manchester [Manchester], Service d'Immunologie [CHU Pitié-Salpétrière], CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Centre Hospitalier Universitaire de La Réunion (CHU La Réunion), Institut Mondor de Recherche Biomédicale (IMRB), Institut National de la Santé et de la Recherche Médicale (INSERM)-IFR10-Université Paris-Est Créteil Val-de-Marne - Paris 12 (UPEC UP12), CHU Necker - Enfants Malades [AP-HP], University of Edinburgh, Marie-Louise Frémond is supported by the Institut National de la Santé et de la Recherche Médicale (grant no. 000427993). Y.J.C. acknowledges funding from the European Research Council (GA 309449: Fellowship to Y.J.C.), a state subsidy managed by the National Research Agency (ANR, France) under the 'Investments for the Future' (ANR-10-IAHU-01), and an ANR grant (CE17001002) to Y.J.C. and D.D, We thank the patient for participating in this study. We thank ImmunoQure AG for sharing antibodies for use in the IFNα Simoa assay, ANR-10-IAHU-0001,Imagine,Institut Hospitalo-Universitaire Imagine(2010), ANR-16-CE17-0010,IFNX,Investigation des interferonopathies type I humaine(2016), European Project: 309449,EC:FP7:ERC,ERC-2012-StG_20111109,T1-IFN(2013), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'immunologie [CHU Pitié-Salpétrière], Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Pitié-Salpêtrière [APHP], and ANR-10-IAHU-0001/10-IAHU-0001,Imagine,Imagine(2010)

Subjects
Oncology, medicine.medical_specialty, Ruxolitinib, stat, Dermatomyositis, 03 medical and health sciences, 0302 clinical medicine, Interferon, Internal medicine, Nitriles, medicine, Humans, Janus Kinase Inhibitors, STAT2, Child, Juvenile dermatomyositis, 030203 arthritis & rheumatology, Janus kinase 1, biology, business.industry, 16. Peace & justice, medicine.disease, 3. Good health, Pyrimidines, Tyrosine kinase 2, Interferon Type I, biology.protein, [SDV.IMM]Life Sciences [q-bio]/Immunology, Pyrazoles, Neurology (clinical), business, 030217 neurology & neurosurgery, medicine.drug
Abstract

International audience; Sir,We read with interest the article by Ladislau et al. (2018), highlighting the key role of type I interferon (IFN) in the pathophysiology of the muscle disease observed in dermatomyositis and reporting the short-term efficacy of ruxolitinib in four adult patients. Type I IFNs bind a unique common receptor (IFNAR) and subsequently activate the Janus Kinase 1 (JAK1) and tyrosine kinase 2, which, in turn, leads to the phosphorylation of signal transducer of activator of transcription (STAT) 1 and STAT2 driving the expression of IFN-stimulated genes (ISGs). Here, we describe the use of the JAK1/2 selective inhibitor ruxolitinib in a child with severe vasculopathic refractory juvenile dermatomyositis (JDM). Informed parental consent was obtained for the use of ruxolitinib on a compassionate basis and the associated experimental work, conducted in compliance with the 1975 Declaration of Helsinki [...]

Published
2018

20. TNF and IL-1 Targeted Treatment in Kawasaki Disease

Author

Florence A. Aeschlimann and Rae S. M. Yeung

Subjects
0301 basic medicine, medicine.medical_specialty, Aspirin, Heart disease, business.industry, General Medicine, Disease, 030204 cardiovascular system & hematology, medicine.disease, Rheumatology, Pathophysiology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, hemic and lymphatic diseases, Internal medicine, Immunology, medicine, Kawasaki disease, Tumor necrosis factor alpha, Intensive care medicine, business, Vasculitis, medicine.drug
Abstract

Kawasaki disease (KD) is a multisystemic vasculitis affecting young children and the most common cause of acquired heart disease in children in the developed world. Current treatment recommendations for acute KD include IVIG and aspirin, but there are no evidence-based guidelines for children who do not respond to IVIG treatment. Widely applicable risk stratification algorithms to identify patients at high-risk of treatment failure and poor coronary artery outcome are not available. Over the past few years, increasing knowledge of the pathophysiology of disease have resulted in the identification of key inflammatory mediators and the use of biologic pathway targeting agents such as TNF and IL-1 inhibitors for children with IVIG-resistant disease. However, despite considerable efforts, adequately powered, randomized, controlled and prospective trials are lacking. In this review, we summarize the recent advances in our understanding of disease pathobiology and provide an overview of the currently available studies on anti-TNF and IL-1 therapy in KD.

Published
2016

21. Early Onset of Chronic Rheumatic Disease May Lead to Creative Expression: The Stories of Antoni Gaudí and Maud Lewis

Author

Florence A. Aeschlimann, Ronald M. Laxer, and André Aeschlimann

Subjects
Male, Canada, medicine.medical_specialty, Coping (psychology), Art therapy, Immunology, Medicine in the Arts, Alternative medicine, Arthritis, 03 medical and health sciences, 0302 clinical medicine, Quality of life (healthcare), Rheumatology, Architecture, Humans, Immunology and Allergy, Medicine, 030212 general & internal medicine, Psychiatry, 030203 arthritis & rheumatology, Painting, business.industry, History, 19th Century, History, 20th Century, medicine.disease, Arthritis, Juvenile, humanities, Expression (architecture), Spain, Female, Paintings, business, Medical literature
Abstract

Many famous artists had rheumatic diseases. Among them, the popular French impressionist painter Pierre-Auguste Renoir, the Russian expressionist painter Alexej von Jawlensky, and the French fauvist and “painter of the light” Raoul Dufy were diagnosed with rheumatoid arthritis (RA), and Paul Klee, a highly renowned Swiss-German painter, with systemic sclerosis. Their medical histories have been widely discussed, and they are examples of how creative art may help in coping with the disease1,2,3,4,5,6. Autoimmune diseases such as RA seem to occur with a higher frequency in artists, and exposure to toxins, such as those found in painting materials, and smoking have been discussed as contributing factors7,8,9. Would a chronic inflammatory pediatric rheumatic disease possibly influence artistic work? Juvenile idiopathic arthritis (JIA) and other chronic rheumatologic conditions with childhood onset have a significant effect on health-related quality of life and physical function, imposing a societal and psychological burden, especially in the prebiologic era10. Art therapy has been shown to be beneficial in adults and children with chronic diseases by reducing stress and pain and enabling the expression of the cognitive and emotional ideas of the patients11,12,13,14,15. To our knowledge and in contrast to the many artists with adult-onset autoimmune rheumatic conditions, there are only 2 famous artists with known chronic pediatric rheumatic diseases: Antoni Gaudi, the unique Catalan architect, and Maud Lewis, one of Canada’s best known and most loved folk art painters. The medical literature discussing Gaudi’s articular symptoms is scarce and we are not aware of any publication on Lewis’s medical history16,17,18. Dufy experienced an episode of self-limited arthritis in childhood, but he remained …

Published
2016

22. Response to: 'A20 haploinsufficiency (HA20): clinical phenotypes and disease course of patients with a newly recognised NF-kB-mediated autoinflammatory disease' by Aeschlimann

Author

Ronald M. Laxer and Florence A. Aeschlimann

Subjects
Patients, business.industry, Immunology, NF-kappa B, Disease, Behcet's disease, Haploinsufficiency, medicine.disease, Phenotype, General Biochemistry, Genetics and Molecular Biology, Disease course, Large cohort, Rheumatology, Immunology and Allergy, Medicine, Humans, Autoinflammatory disease, Clinical phenotype, business
Abstract

We thank Dr Berteau et al 1 for sharing their experience of a family diagnosed with HA20 based on a Behcet-like disease phenotype and an autosomal-dominant inheritance pattern. The presentation and disease course described in the mother and her two children support the findings described in our cohort2 and in a recent large cohort of Japanese patients with HA20.3 An interesting …

Published
2018

23. Childhood Takayasu arteritis: disease course and response to therapy

Author

S. Sheikh, Christian Pagnoux, Diane Hebert, Florence A. Aeschlimann, Rae S. M. Yeung, Damien Noone, Simon W. M. Eng, Ronald M. Laxer, Susanne M. Benseler, and Marinka Twilt

Subjects
Male, Vasculitis, medicine.medical_specialty, lcsh:Diseases of the musculoskeletal system, Cyclophosphamide, Adolescent, Disease, Kaplan-Meier Estimate, Logistic regression, Cohort Studies, 03 medical and health sciences, 0302 clinical medicine, Adrenal Cortex Hormones, 030225 pediatrics, Internal medicine, medicine, Humans, Child, Children, Disease burden, 030203 arthritis & rheumatology, Biological Products, business.industry, medicine.disease, Takayasu Arteritis, Rheumatology, Surgery, Logistic Models, Methotrexate, Treatment Outcome, Antirheumatic Agents, Drug Therapy, Combination, Female, lcsh:RC925-935, business, Cohort study, medicine.drug, Research Article, Biologic therapy
Abstract

Background Takayasu arteritis (TAK) is a large vessel vasculitis that rarely affects children. Data on childhood TAK are scarce. The aim of this study was to analyze the presenting features, course and outcome of children with TAK, compare efficacy of treatment regimens and identify high-risk factors for adverse outcome. Methods A single-center cohort study of consecutive children fulfilling the EULAR/PRINTO/PReS criteria for childhood TAK between 1986 and 2015 was performed. Clinical phenotypes, laboratory markers, imaging features, disease course and treatment were documented. Disease activity was assessed using the Pediatric Vasculitis Disease Activity Score at each visit. Outcome: disease flare defined as new symptoms and/or increased inflammatory markers necessitating therapy escalation and/or new angiographic lesions, or death. Analysis: logistic regression tested relevant variables for flare. Kaplan-Meier analyses compared treatment regimens. Results Twenty-seven children were included; 74% were female, median age at diagnosis was 12.4 years. Twenty-two (81%) children presented with active disease at diagnosis. Treatment regimens included corticosteroids alone (15%), corticosteroids plus methotrexate (37%), cyclophosphamide (19%), or a biologic agent (11%). Adverse outcomes were documented in 14/27 (52%) children: two (7%) died within 6 months of diagnosis, and 13 (48%) experienced disease flares. The 2-year flare-free survival was 80% with biologic treatments compared to 43% in non-biologic therapies (p = 0.03); at last follow-up, biologic therapies resulted in significantly higher rates of inactive disease (p = 0.02). No additional outcome predictor was identified. Conclusions Childhood TAK carries a high disease burden; half of the children experienced flares and 7% died. Biologic therapies were associated with better control of disease activity.

Published
2017

24. Sprechstunde mit chronisch kranken Kindern

Author

André Aeschlimann and Florence A. Aeschlimann

Subjects
Pediatrics, medicine.medical_specialty, medicine, MEDLINE, General Medicine, Psychology
Published
2019

25. Erratum

Author

Elsa Saire, Gillian I. Rice, Christine Bodemer, Darragh Duffy, Bénédicte Neven, Marie-Louise Frémond, Vincent Bondet, Laurent Balu, Cyril Gitiaux, Jean-Luc Charuel, Florence A Aeschlimann, Brigitte Bader-Meunier, and Yanick J. Crow

Subjects
Ruxolitinib, medicine.medical_specialty, business.industry, medicine, Neurology (clinical), medicine.disease, business, Dermatology, Juvenile dermatomyositis, medicine.drug
Published
2018

26. Peter Paul Rubens – Zwischen Diplomatie und Malerei

Author

Beat A. Michel, Florence A. Aeschlimann, and André Aeschlimann

Subjects
030203 arthritis & rheumatology, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, Rheumatology
Abstract

Der 30-jahrige Krieg (1618–1648) war durch eine blutige Auseinandersetzung gekennzeichnet, in der einerseits die katholische Kirche gegen die reformationsfreudige „Protestantische Union“, andererseits verschiedene Konfliktparteien um die Herrschaft in Europa kampften. In diesen Kriegswirren, in denen es um Glauben und Macht ging, ubernahm der flamische Maler Peter Paul Rubens (1577–1640) eine rege diplomatische Vermittlerrolle. Im Dienste der Erzherzogin Isabella von Spanien fuhrte Rubens zwischen 1622 und 1640 Friedensverhandlungen zwischen den Konfliktparteien Frankreich, Spanien, England und den Niederlanden, und hinterlies dadurch eine umfassende Korrespondenz und zahlreiche Bilder, die uns Einblick in seine Zeit und seinen Gesundheitszustand geben.

Published
2017

27. Pierre Auguste Renoir (1841–1919) – 'Der Schmerz vergeht, die Schönheit bleibt'

Author

André Aeschlimann, Florence A. Aeschlimann, and Beat A. Michel

Subjects
030203 arthritis & rheumatology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, 030212 general & internal medicine
Abstract

Sir William Osler, kanadischer Mediziner und Autor des 1892 erschienenen Lehrbuches „The Principles of Practice of Medi­cine“ betrachtete die rheumatoide Arthritis ganz einfach als unheilbar: „Das Beste, das man erhoffen kann, ist, dass sie von selbst allmahlich zum Stillstand kommt“ 1 .

Published
2017

28. Are growing pains a parasomnia

Author

Florence A Aeschlimann, Oskar G. Jenni, Rotraud K. Saurenmann, and Helene Werner

Subjects
Pediatrics, medicine.medical_specialty, lcsh:Diseases of the musculoskeletal system, business.industry, Sleep Walking, Incidence (epidemiology), Growing pains, lcsh:RJ1-570, lcsh:Pediatrics, Parasomnia, medicine.disease, Sleep in non-human animals, Rheumatology, Pediatrics, Perinatology and Child Health, Poster Presentation, Medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, lcsh:RC925-935, business
Abstract

Background The so called growing pains (GP) are affecting 4-37% of all children with a peak incidence in the preschool ages. Although parasomnias (e.g.sleep terrors, sleep talking, sleep walking) share several features with GP such as the age at onset, the daytime of appearance, the self-limited course and the absence of symptoms on the following day, the 2 conditions have not been linked so far.

Published
2012

29. Arterial dissection in childhood Takayasu Arteritis: not as rare as thought

Author

Ronald M. Laxer, Lars Grosse-Wortmann, Diane Hebert, Susanne M. Benseler, Florence A. Aeschlimann, and Rae S. M. Yeung

Subjects
Vasculitis, medicine.medical_specialty, Short Report, Dissection (medical), 030204 cardiovascular system & hematology, Single Center, Imaging, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Internal medicine, medicine, Immunology and Allergy, cardiovascular diseases, Pediatrics, Perinatology, and Child Health, Children, 030203 arthritis & rheumatology, Arterial dissection, business.industry, musculoskeletal, neural, and ocular physiology, Retrospective cohort study, medicine.disease, Pediatrics, Perinatology and Child Health, Cohort, Radiology, Complication, business, psychological phenomena and processes, Takayasu arteritis
Abstract

Background Arterial vessel wall dissection is a rare, life-threatening and rarely described complication in childhood Takayasu Arteritis (cTA). Prevalence and risk factors for arterial dissection in cTA are unknown. We sought to study the prevalence and analyse risk factors for arterial dissection in cTA. Findings A single center retrospective review of all children with cTA was performed. Patients with arterial dissection at cTA diagnosis were reported in detail and compared to the remaining single center retrospective cohort of children without dissection. Disease activity was assessed by the Pediatric Vasculitis Disease Activity Score (PVAS). A total of 27 cTA patients (74 % girls) were included. Three children (11 %) presented with dissection at diagnosis of cTA. They had higher PVAS (median 21 versus 10, p = 0.26), increased neutrophils (p

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30. Patterns of joint involvement in juvenile idiopathic arthritis and prediction of disease course: A prospective study with multilayer non-negative matrix factorization.

Author

Simon W M Eng, Florence A Aeschlimann, Mira van Veenendaal, Roberta A Berard, Alan M Rosenberg, Quaid Morris, Rae S M Yeung, and ReACCh-Out Research Consortium

Subjects
Medicine
Abstract

BackgroundJoint inflammation is the common feature underlying juvenile idiopathic arthritis (JIA). Clinicians recognize patterns of joint involvement currently not part of the International League of Associations for Rheumatology (ILAR) classification. Using unsupervised machine learning, we sought to uncover data-driven joint patterns that predict clinical phenotype and disease trajectories.Methods and findingsWe analyzed prospectively collected clinical data, including joint involvement using a standard 71-joint homunculus, for 640 discovery patients with newly diagnosed JIA enrolled in a Canada-wide study who were followed serially for five years, treatment-naïve except for nonsteroidal anti-inflammatory drugs (NSAIDs) and diagnosed within one year of symptom onset. Twenty-one patients had systemic arthritis, 300 oligoarthritis, 125 rheumatoid factor (RF)-negative polyarthritis, 16 RF-positive polyarthritis, 37 psoriatic arthritis, 78 enthesitis-related arthritis (ERA), and 63 undifferentiated arthritis. At diagnosis, we observed global hierarchical groups of co-involved joints. To characterize these patterns, we developed sparse multilayer non-negative matrix factorization (NMF). Model selection by internal bi-cross-validation identified seven joint patterns at presentation, to which all 640 discovery patients were assigned: pelvic girdle (57 patients), fingers (25), wrists (114), toes (48), ankles (106), knees (283), and indistinct (7). Patterns were distinct from clinical subtypes (P < 0.001 by χ2 test) and reproducible through external data set validation on a 119-patient, prospectively collected independent validation cohort (reconstruction accuracy Q2 = 0.55 for patterns; 0.35 for groups). Some patients matched multiple patterns. To determine whether their disease outcomes differed, we further subdivided the 640 discovery patients into three subgroups by degree of localization-the percentage of their active joints aligning with their assigned pattern: localized (≥90%; 359 patients), partially localized (60%-90%; 124), or extended (ConclusionsMultilayer NMF identified patterns of joint involvement that predicted disease trajectory in children with arthritis. Our hierarchical unsupervised approach identified a new clinical feature, degree of localization, which predicted outcomes in both cohorts. Detailed assessment of every joint is already part of every musculoskeletal exam for children with arthritis. Our study supports both the continued collection of detailed joint involvement and the inclusion of patterns and degrees of localization to stratify patients and inform treatment decisions. This will advance pediatric rheumatology from counting joints to realizing the potential of using data available from uncovering patterns of joint involvement.

Published
2019
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