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1. Paracetamol and ibuprofen fixed-dose combination for the management of acute mild-to-moderate pain in children: strengthening and enhancing of result of Nominal Group Technique through Delphi consensus

Author

Emanuele Castagno, Niccolò Parri, Antonio D’Avino, Elena Ferrari, Paola Giovanna Marchisio, Virginia Messia, Maurizio Taglialatela, and Annamaria Staiano

Subjects
Pain management, Pediatrics, Paracetamol/ibuprofen fixed-dose combination, Delphi consensus, RJ1-570
Abstract

Abstract Background Paracetamol and ibuprofen are the most commonly used drugs for pain treatment in children and their combination has shown improved analgesic effect compared to treatment with either drug alone. Current literature lacks specific guidelines regarding the settings in which this combination should be adopted. Methods The survey, conducted with Delphi methodology, involved 75 hospital and outpatient pediatricians with clinical experience in the management of pain in children. Pediatricians involved were asked to validate or not the results of the previous NominalGroup Tecnique (NGT) consensus and thus specify the optimal clinical settings in which the paracetamol/ibuprofen fixed-dose combination could be adopted. Results The results confirm the importance of the fixed-dose paracetamol and ibuprofen combination for the control of mild-to-moderate acute pain in children. Particularly, this association seems to be appropriate in case of headache, earache, odontalgia and musculoskeletal pain, and in specific settings such as post-operative and post-procedural pain. The broadening of the panel brought to slight variations in clinical management practices between hospital and outpatient specialists. Nonetheless, overall consensus supports the notion that the fixed dose combination is more efficacious than monotherapies and it is well tolerated. Moreover, experts unanimously agree on the usefulness of the combination for caregivers, leading to improved adherence and effectiveness. Conclusions Both the NGT consensus and the broader Delphi consensus confirm the usefulness of the paracetamol-ibuprofen fixed-dose combination in pediatric pain. This is attributed to its superior effectiveness compared to monotherapies, a good tolerability profile, and improved compliance and ease of use. Some pain settings related to chronic, inflammatory and rheumatological pathologies remain to be investigated to evaluate the use of this combination.

Published
2024
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2. A child with polyarthritis and chronic lung disease: a case report of ataxia-telangiectasia

Author

Laura De Nardi, Marco Francesco Natale, Virginia Messia, Paolo Tomà, Fabrizio De Benedetti, and Antonella Insalaco

Subjects
Ataxia-telangiectasia, Juvenile idiopathic arthritis, Bronchiectasis, Interstitial lung disease, Granulomatosis, Immunodeficiency, Pediatrics, RJ1-570
Abstract

Abstract Background Ataxia-telangiectasia (A-T) is a rare autosomal recessive DNA repair disorder, characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, recurrent sinopulmonary infections, radiation sensitivity, premature aging and predisposition to cancer. Although the association with autoimmune and chronic inflammatory conditions such as vitiligo, thrombocytopenia and arthritis has occasionally been reported, an onset with articular involvement at presentation is rare. Case presentation We herein report the case of a 7-year-old Caucasian girl who was admitted to the Rheumatology Department with a history of febrile chough and polyarthritis which led initially to the suspicion of an autoinflammatory disease. She had overt polyarthritis with knees deformities and presented with severe pneumonia. A chest Computed Tomography (CT) scan showed bilateral bronchiectasis, parenchymal consolidation and interstitial lung disease; rheumatoid factor and type I interferon signature resulted negative, therefore excluding COatomer Protein subunit Alpha (COPA) syndrome. A diagnosis of sarcoidosis had been suspected based on histological evidence of granulomatous liver inflammation, but ruled out after detecting normal angiotensin converting enzyme and chitotriosidase blood levels. Based on her past medical history characterized by at least six episodes of pneumonia in the previous 4 years, immunological phenotyping was performed. This showed complete IgA and IgE deficiency with defective antigen-specific antibodies to Pneumococcal, Tetanus toxin and Hemophilus Influenzae B vaccines. Additionally, low numbers of B cells and recent thymic emigrants (RTE) were found (CD4Ra 1.4%), along with a low CD4+/CD8 + T cells ratio (

Published
2023
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3. Tocilizumab for massive refractory pleural effusion in an adolescent with systemic lupus erythematosus

Author

Arianna De Matteis, Emanuela Sacco, Camilla Celani, Andrea Uva, Virginia Messia, Rebecca Nicolai, Manuela Pardeo, Fabrizio De Benedetti, and Claudia Bracaglia

Subjects
JSLE (Juvenile-onset Systemic Lupus Erythematosus) - Pleural effusion, IL-6, Tocilizumab, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background Pleural effusion in systemic lupus erythematous (SLE) is a common symptom, and recent studies demonstrated that IL-6 has a pivotal role in its pathogenesis. Case presentation We report a case of a 15 years old Caucasian boy with a history of persistent pleural effusion without lung involvement or fever. Microbiological and neoplastic aetiologies were previously excluded. Based on the presence of pleuritis, malar rash, reduction of C3 and C4 levels and positivity of antinuclear antibody (ANA) and anti-double stranded DNA (dsDNA), the diagnosis of juvenile SLE (JSLE) was performed. Treatment with high dose of intravenous glucocorticoids and mycophenolate mofetil was started with partial improvement of pleural effusion. Based on this and on adults SLE cases with serositis previously reported, therapy with intravenous tocilizumab (800 mg every two weeks) was started with prompt recovery of pleural effusion. Conclusion To the best of our knowledge, this is the first case of JSLE pleuritis successfully treated with tocilizumab.

Published
2021
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4. Assessment of disease activity using a whole-body MRI derived radiological activity index in chronic nonbacterial osteomyelitis

Author

Martina Capponi, Denise Pires Marafon, Flaminia Rivosecchi, Yongdong Zhao, Manuela Pardeo, Virginia Messia, Laura Tanturri de Horatio, Paolo Tomà, Fabrizio De Benedetti, and Antonella Insalaco

Subjects
Chronic nonbacterial osteomyelitis, Whole body magnetic resonance imaging, CROMRIS, PGA, Disease activity, Children, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background Based on the recently developed ChRonic nonbacterial Osteomyelitis MRI Scoring tool (CROMRIS), we developed a radiological activity index (RAI-CROMRIS) to obtain a quantification of the overall bone involvement in individual patients. Methods Whole Body Magnetic Resonance Imaging (WB-MRI) images were scored according to parameters included in the RAI-CROMRIS: bone marrow hyperintensity, signal extension, soft tissue/periosteal hyperintensity, bony expansion, vertebral collapse. These parameters were evaluated for each bone unit yielding a score from 0 to 7 and summed up as RAI-CROMRIS including all bone units. We assessed clinical disease activity using a physician global assessment (PGA) and radiological findings in 76 treatment-naïve patients; 46 of 76 were evaluated at 6 and 12 months after initial WB-MRI. Quantitative variables were compared using the Mann-Whitney U test for unmatched groups and the Wilcoxon signed-rank test for paired groups. Correlation was evaluated using Spearman’s rank coefficient (rs). Results There was a significant correlation between RAI-CROMRIS and PGA (r s = 0.32; p = 0.0055), between RAI-CROMRIS and presence of elevated erythrocyte sedimentation rate (p = 0.013) and C-reactive protein (p = 0.0001) at baseline. The RAI-CROMRIS decreased from a median of 17 at baseline to 12 at 6 months (p = 0.004) and remained stable (median 11) at 12 months. A correlation between the RAI-CROMRIS and the PGA was observed at baseline (r s = 0.41; p = 0.004) and during follow up at 6 months (r s = 0.33; p = 0.025) and 12 months (r s = 0.38; p = 0.010). The baseline RAI-CROMRIS (median 20) was significantly higher in patients who subsequently received bisphosphonates than in patients who received other treatments (median 12) and decreased significantly after bisphosphonates (p = 0.008). Conclusions The RAI-CROMRIS was correlated with clinical and laboratory measures of disease activity showing significant short-term changes following treatment with bisphosphonates. This tool could be used in clinical practice and clinical trials after validation.

Published
2021
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5. High prevalence of rare FBLIM1 gene variants in an Italian cohort of patients with Chronic Non-bacterial Osteomyelitis (CNO)

Author

Adamo Pio d’Adamo, Anna Monica Bianco, Giovanna Ferrara, Martina La Bianca, Antonella Insalaco, Alberto Tommasini, Manuela Pardeo, Marco Cattalini, Francesco La Torre, Martina Finetti, Clotilde Alizzi, Gabriele Simonini, Virginia Messia, Serena Pastore, Rolando Cimaz, Marco Gattorno, Andrea Taddio, and for the Italian Pediatric Rheumatology Study Group

Subjects
Chronic non-bacterial osteomyelitis, FBLIM1 gene, Bone sterile inflammation, Autoinflammatory disease, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background FBLIM1 gene has been recently demonstrated to be involved in the pathogenesis of bone sterile inflammation. The aim of the study is to evaluate the prevalence of FBLIM1 gene variants in a cohort of 80 Italian patients with Chronic Non-bacterial Osteomyelitis (CNO). Methods The coding regions of FBLIM1 gene were sequenced in a cohort of 80 patients with CNO using DNA extracted from blood lymphocytes, and PCR products were sequenced. Only rare (global MAF

Published
2020
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6. 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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7. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two

Author

Olga Lomakina, Ekaterina Alekseeva, Sania Valieva, Tatiana Bzarova, Irina Nikishina, Elena Zholobova, Svetlana Rodionovskaya, Maria Kaleda, Yasuo Nakagishi, Masaki Shimizu, Mao Mizuta, Akihiro Yachie, Yuko Sugita, Nami Okamoto, Kousuke Shabana, Takuji Murata, Hiroshi Tamai, Eve M. Smith, Peng Yin, Andrea L. Jorgensen, Michael W. Beresford, on behalf of On behalf of the UK JSLE Cohort Study, Antonio Eleuteri, Beatrice Goilav, Laura Lewandowski, Angel Phuti, Dawn Wahezi, Tamar Rubinstein, Caroline Jones, Paul Newland, Stephen Marks, Rachel Corkhill, Diana Ekdawy, Clarissa Pilkington, Kjell Tullus, Chaim Putterman, Chris Scott, Antony C. Fisher, Andrea Jorgensen, Ezgi Deniz Batu, Can Kosukcu, Ekim Taskiran, Sema Akman, Kubra Ozturk, Betul Sozeri, Erbil Unsal, Zelal Ekinci, Yelda Bilginer, Mehmet Alikasifoglu, Seza Ozen, Hanna Lythgoe, Hermine I. Brunner, Gaurav Gulati, Jordan T. Jones, Mekibib Altaye, Jamie Eaton, Mark Difrancesco, Joo Guan Yeo, Jingyao Leong, Loshinidevi D/O Thana Bathi, Thaschawee Arkachaisri, Salvatore Albani, Nagla Abdelrahman, Michael W Beresford, Valentina Leone, UK JSLE study group supported by the National Institute of Health Research Clinical Research Network, Noortje Groot, D. Shaikhani, I. E. M. Bultink, M. Bijl, R. J. E. M. Dolhain, Y. K. O. Teng, E. Zirkzee, K. de Leeuw, R. Fritsch-Stork, S. S. M. Kamphuis, Rachael D. Wright, Reem Abdawani, Laila Al Shaqshi, Ibrahim Al Zakwani, Natali W. Gormezano, David Kern, Oriany L. Pereira, Gladys C. C. Esteves, Adriana M. Sallum, Nadia E. Aikawa, Rosa M. Pereira, Clovis A. Silva, Eloisa Bonfa, Jessica Beckmann, Nora Bartholomä, Nils Venhoff, Philipp Henneke, Ulrich Salzer, Ales Janda, Alina Lucica Boteanu, Sandra Garrote Corral, Alberto Sifuentes Giraldo, Mariluz Gámir Gámir, Antonio Zea Mendoza, Amra Adrovic, Reyhan Dedeoglu, Sezgin Sahin, Kenan Barut, Aida Koka, Funda Oztunc, Ozgur Kasapcopur, Ana Luisa Rodriguez-Lozano, Francisco Rivas-Larrauri, Silvestre García de la Puente, Andressa G. F. Alves, Maria F. D. A. Giacomin, Juliana Farhat, Alfésio L. F. Braga, Adriana M. E. Sallum, Lúcia M. D. A. Campos, Luiz A. A. Pereira, Ana J. D. F. C. Lichtenfels, Clóvis A. Silva, Sylvia C. L. Farhat, Banu Acar, Z. Birsin Ozcakar, Nilgün Çakar, Nermin Uncu, Gökçe Gür, Semanur Özdel, Fatoş Yalçınkaya, Christiaan Scott, Nicky Brice, Peter Nourse, Christine Arango, Angela C. Mosquera, Clara Malagon, Ana P. Sakamoto, Marco F. C. D. Silva, Ananadreia S. Lopes, Gleice C. S. Russo, Adriana E. M. Sallum, Katia Kozu, Eloisa Bonfá, Claudia Saad-Magalhães, Rosa M. R. Pereira, Claudio A. Len, Maria T. Terreri, Deepti Suri, Siyaram Didel, Amit Rawat, Surjit Singh, Despoina Maritsi, MArgarita Onoufriou, Olga Vougiouka, Maria Tsolia, Edi Paleka Bosak, Mandica Vidović, Mirta Lamot, Lovro Lamot, Miroslav Harjaček, Erika Van Nieuwenhove, Adrian Liston, Carine Wouters, Fatemeh Tahghighi, Vahid Ziaee, Seid-Reza Raeeskarami, Francisca Aguiar, Sandra Pereira, Mariana Rodrigues, Cláudia Moura, Gustavo Rocha, Hercília Guimarães, Iva Brito, Rita Fonseca, Gerd Horneff, Ariane Klein, Kirsten Minden, Hans-Iko Huppertz, Frank Weller-Heinemann, Jasmin Kuemmerle-Deschner, J-Peter Haas, Anton Hospach, BIKER collaborative group, Ricardo Menendez-Castro, Boris Huegle, Johannes-Peter Haas, Joost Swart, Gabriella Giancane, Francesca Bovis, Elio Castagnola, Andreas Groll, Daniel J. Lovell, Tom Wolfs, Michael Hofer, Violeta Panaviene, Susan Nielsen, Jordi Anton, Florence Uettwiller, Valda Stanevicha, Maria Trachana, Denise Pires Marafon, Constantin Ailioaie, Elena Tsitsami, Sylvia Kamphuis, Troels Herlin, Pavla Doležalová, Gordana Susic, Berit Flatø, Flavio Sztajnbok, Angela Pistorio, Alberto Martini, Nico Wulffraat, Nicolino Ruperto, Marco Gattorno, Antonio Brucato, Martina Finetti, George Lazaros, Silvia Maestroni, Mara Carraro, Davide Cumetti, Alessandra Carobbio, Monia Lorini, Alessandro Rimini, Renzo Marcolongo, Anna Valenti, Gian Luca Erre, Riccardo Belli, Fiorenzo Gaita, Maria Pia Sormani, Massimo Imazio, Mario Abinun, Nicola Smith, Tim Rapley, Flora McErlane, Lianne Kearsley-Fleet, Kimme L. Hyrich, Helen Foster, Nikolay Tzaribachev, Andrew Zeft, Rolando Cimaz, John Bohnsack, Thomas Griffin, Ruy Carrasco, Jason Dare, Ivan Foeldvari, Richard Vehe, Teresa Simon, Hermine Brunner, S. Verazza, S. Davì, A. Consolaro, A. Insalaco, V. Gerloni, R. Cimaz, F. Zulian, S. Pastore, F. Corona, G. Conti, P. Barone, M. Cattalini, E. Cortis, L. Breda, A. N. Olivieri, A. Civino, R. Podda, D. Rigante, F. La Torre, G. D’Angelo, M. Jorini, R. Gallizzi, M. C. Maggio, R. Consolini, A. De Fanti, M. G. Alpigiani, A. Martini, A. Ravelli, on behalf of Italian Pediatric Rheumatology Study Group, Aysenur Pac Kısaarslan, Zubeyde Gunduz, Ruhan Dusunsel, Ismail Dursun, Hakan Poyrazoglu, Ekaterina Kuchinskaya, Farida Abduragimova, Mikhail Kostik, Erik Sundberg, Soley Omarsdottir, Lena Klevenvall, Helena Erlandsson-Harris, Gokalp Basbozkurt, Ozge Erdemli, Dogan Simsek, Fatih Yazici, Yildirim Karsioglu, Aysen Tezcaner, Dilek Keskin, Huseyin Ozkan, Cengizhan Acikel, Erkan Demirkaya, Ilonka Orbán, Krisztina Sevcic, Valentin Brodszky, Emese Kiss, Ismaiel A. Tekko, Madeleine Rooney, James McElnay, Cliff Taggart, Helen McCarthy, Ryan F. Donnelly, Drug Delivery Group, Mary Slatter, Zohreh Nademi, Mark Friswell, Sharmila Jandial, Terence Flood, Sophie Hambleton, Andrew Gennery, Andrew Cant, Phoi-Ngoc Duong, Isabelle Koné-Paut, Giovanni Filocamo, María Luz Gamir, Helga Sanner, Laura Carenini, Mesut Topdemir, Yildirim Karslioglu, Faysal Gok, Nadezhda Tsurikova, Elena Ligostaeva, Navdha R. Ramchurn, O. Kostareva, I. Nikishina, S. Arsenyeva, S. Rodionovskaya, M. Kaleda, D. Alexeev, Ismail Dursun Dursun, Sara Murias, Estefania Barral, Rosa Alcobendas, Eugenia Enriquez, Agustin Remesal, Jaime de Inocencio, Tania M. Castro, Simone A. Lotufo, Tatjana Freye, Raffaella Carlomagno, Thomas Zumbrunn, Jan Bonhoeffer, Elvira Cannizzaro Schneider, Daniela Kaiser, Michaël Hofer, Véronique Hentgen, Andreas Woerner, Juvenile Inflammatory Rheumatism (JIR) Cohort, Tobias Schwarz, Jens Klotsche, Martina Niewerth, Gerd Ganser, ICON study group, Jerold Jeyaratnam, Nienke ter Haar, Donato Rigante, Fatma Dedeoglu, Ezgi Baris, Sebastiaan Vastert, Joost Frenkel, Jonathan S. Hausmann, Kathleen G. Lomax, Ari Shapiro, Karen L. Durrant, P. A. Brogan, M. Hofer, J. B. Kuemmerle-Deschner, B. Lauwerys, A. Speziale, K. Leon, X. Wei, R. M. Laxer, Sara Signa, Marta Rusmini, Elena Campione, Sabrina Chiesa, Alice Grossi, Alessia Omenetti, Roberta Caorsi, Gianmaria Viglizzo, Isabella Ceccherini, Silvia Federici, Helen Lachmann, Nicola Ruperto, on behalf of PRINTO and Eurofever Registry, Federica Vanoni, on behalf of PRINTO and Eurofever Project, Sonia Melo Gomes, Ebun Omoyinmi, Juan I. Arostegui, Eva Gonzalez-Roca, Despina Eleftheriou, Nigel Klein, Paul Brogan, Stefano Volpi, Elettra Santori, Paolo Picco, Claudia Pastorino, Gillian Rice, Alessandra Tesser, Yanick Crow, Fabio Candotti, Ada B. Sinoplu, Gozde Yucel, Gizem Pamuk, Laura O. Damian, Cecilia Lazea, Mihaela Sparchez, Paulina Vele, Laura Muntean, Adriana Albu, Simona Rednic, Calin Lazar, Leonardo O. Mendonça, Alessandra Pontillo, Jorge Kalil, Fabio M. Castro, Myrthes T. Barros, Manuela Pardeo, Virginia Messia, Fabrizio De Benedetti, Antonella Insalaco, Giorgia Malighetti, Chiara Gorio, Francesca Ricci, Ilaria Parissenti, Paola Montesano, Barbara Bonafini, Veronica Medeghini, Marco Cattalini, Lucio Giordano, Giulia Zani, Rosalba Ferraro, Donatella Vairo, Silvia Giliani, Maria Cristina Maggio, Girolamo Luppino, Giovanni Corsello, Maria Isabel Gonzalez Fernandez, Berta Lopez Montesinos, Adriana Rodriguez Vidal, Juan I. Arostegui Gorospe, Inmaculada Calvo Penades, Nadia K. Rafiq, Karen Wynne, Khalid Hussain, Paul A. Brogan, Elizabeth Ang, Nicholas Ng, Ayla Kacar, Ozge Altug Gucenmez, Balahan Makay, Sevket Erbil Unsal, Yasin Sahin, Tufan Kutlu, Fugen Cullu-Cokugras, Hasret Ayyildiz-Civan, Tulay Erkan, Sana Al Zuhbi, Eiman Abdalla, Ricardo A. Russo, María M. Katsicas, Francesca Minoia, Angelo Ravelli, Sagar Bhattad, Anju Gupta, Vignesh Pandiarajan, Ritambhra Nada, Kaara Tiewsoh, Philip Hawkins, Dorota Rowczenio, Sarka Fingerhutova, Jana Franova, Leona Prochazkova, Eva Hlavackova, Pavla Dolezalova, Havva Evrengül, Selçuk Yüksel, Mustafa Doğan, Dolunay Gürses, Harun Evrengül, Silvia De Pauli, Serena Pastore, Anna Monica Bianco, Giovanni Maria Severini, Andrea Taddio, Alberto Tommasini, Svetlana O. Salugina, Evgeny Fedorov, Elena Kamenets, Ekaterina Zaharova, Tatiana Sleptsova, Ekaterina Alexeeva, Kirill Savostyanov, Alexander Pushkov, Tatyana Bzarova, Saniya Valieva, Rina Denisova, Kseniya Isayeva, Evgeniya Chistyakova, Margarita Soloshenko, Elena Kaschenko, Utako Kaneko, Chihaya Imai, Akihiko Saitoh, Vitor A. Teixeira, Filipa O. Ramos, Manuela Costa, Yonatan Butbul Aviel, Shafe Fahoum, Riva Brik, Zeynep Birsin Özçakar, Banu Acar Celikel, Fatos Yalcinkaya, Benedetta Schiappapietra, Sergio Davi’, Federica Mongini, Luisa Giannone, Cecilia Bava, Maria Giannina Alpigiani, Alessandro Consolaro, Dragana S. Lazarevic, Jelena Vojinovic, Jelena Basic, Valentina Muratore, Valentina Marzetti, Neus Quilis, Belen Serrano Benavente, Alessandra Alongi, Adele Civino, Lorenzo Quartulli, Giedre Januskeviciute, Pieter van Dijkhuizen, N. Groot, W. van Dijk, A. Kardolus, Raul Gutiérrez Suárez, Ellen B. Nordal, Veronika G. Rypdal, Lillemor Berntson, Maria Ekelund, Kristiina Aalto, Suvi Peltoniemi, Marek Zak, Mia Glerup, Ellen D. Arnstad, Anders Fasth, Marite Rygg, the Nordic Study Group of Pediatric Rheumatology (NoSPeR), Ana Catarina Duarte, Sandra Sousa, Lídia Teixeira, Ana Cordeiro, Mª José Santos, Ana Filipa Mourão, Maria José Santos, Mónica Eusébio, Ana Lopes, Filipa Oliveira-Ramos, Manuel Salgado, Paula Estanqueiro, José Melo-Gomes, Fernando Martins, José Costa, Carolina Furtado, Ricardo Figueira, Jaime C. Branco, João E. Fonseca, Helena Canhão, Ana F. Mourão, Maria Jose Santos, Andrea Coda, Samuel Cassidy, Kerry West, Gordon Hendry, Debra Grech, Julie Jones, Fiona Hawke, Davinder Singh Grewal, Charlene Foley, Orla Killeen, Emma MacDermott, Douglas Veale, Ursula Fearon, Dilek Konukbay, Ela Tarakci, Nilay Arman, Sezgin Şahin, Jane Munro, Esi Morgan, Meredith Riebschleger, Jennifer Horonjeff, Vibeke Strand, Clifton Bingham, Ma. Theresa M. Collante, Margarita Ganeva, Stefan Stefanov, Albena Telcharova, Dimitrina Mihaylova, Radoslava Saraeva, Reni Tzveova, Radka Kaneva, Adelina Tsakova, Katya Temelkova, GRANT Medical University, Sofia 68/, Maria Mercedes C. Picarelli, Luiz C. Danzmann, Florencia Barbé-Tuana, Lucas K. Grun, Marcus H. Jones, Marijan Frković, Karla Ištuk, Ika Birkić, Saša Sršen, Marija Jelušić, Alan Easton, Rachael Quarmby, Raju Khubchandani, Mercedes Chan, Radoslav Srp, Katerina Kobrova, Dana Nemcova, Jozef Hoza, Michal Uher, Melania Saifridova, Lenka Linkova, Sirirat Charuvanij, Isree Leelayuwattanakul, Thita Pacharapakornpong, Sakda A.-O. Vallipakorn, Butsabong Lerkvaleekul, Soamarat Vilaiyuk, Stefano Lanni, Sergio Davì, Randy Q. Cron, Chiara Passarelli, Elisa Pisaneschi, Antonio Novelli, Claudia Bracaglia, Ivan Caiello, Kathy de Graaf, Florence Guilhot, Walter Ferlin, Grant Schulert, Alexi A. Grom, Robert Nelson, Cristina de Min, Dirk Holzinger, Christoph Kessel, Ndate Fall, Alexei Grom, Wilco de Jager, Raffaele Strippoli, Anna Horne, Stephan Ehl, Sandra Ammann, Kai Lehmberg, Karin Beutel, Dirk Foell, AnnaCarin Horne, Laura Pagani, Graciela Espada, Yi-jin Gao, Susan Shenoi, Sheila Weitzman, Giusi Prencipe, Antonia Pascarella, Walter G. Ferlin, Laurence Chatel, Philippe Jacqmin, Kathy De Graaf, Maria Ballabio, Zoë Johnson, Geneviève Lapeyre, Fabrizio de Benedetti, de Min Cristina, Hiroyuki Wakiguchi, Shunji Hasegawa, Reiji Hirano, Fumiko Okazaki, Tamaki Nakamura, Hidenobu Kaneyasu, Shouichi Ohga, Kazuko Yamazaki, Tomo Nozawa, Taichi Kanetaka, Shuichi Ito, Shumpei Yokota, Kirsty McLellan, Ishbel MacGregor, Neil Martin, Joyce Davidson, Sandra Hansmann, Andreas Eikelberg, Iris Haug, Sabrina Schuller, Susanne M. Benseler, Single Hub and Access point for paediatric Rheumatology in Europe (SHARE), Liliia S. Nazarova, Kseniia V. Danilko, Viktor A. Malievsky, Tatiana V. Viktorova, Angela Mauro, Angela Barnicoat, Jane Hurst, Nathalie Canham, Sandrine Lacassagne, Anastasia Wiener, Boris Hügle, Bernd Denecke, Ivan Costa-Filho, Johannes Peter Haas, Klaus Tenbrock, David Popp, Arjan Boltjes, Frank Rühle, Stefanie Herresthal, Femke van Wijk, Joachim Schultze, Monika Stoll, Luisa Klotz, Thomas Vogl, Johannes Roth, Estefania Quesada-Masachs, Daniel Álvarez de la Sierra, Marina Garcia Prat, Ana M. Marín Sánchez, Ricardo Pujol Borrell, Sara Marsal Barril, Mónica Martínez Gallo, Consuelo Modesto Caballero, Iryna Chyzheuskaya, Lyudmyla M. Byelyaeva, Rostislav M. Filonovich, Helena K. Khrustaleva, Larisa I. Zajtseva, Tamara M. Yuraga, Thomas Giner, Lukas Hackl, Julia Albrecht, Reinhard Würzner, Juergen Brunner, Marta Minute, Fulvio Parentin, Agostino Nocerino, Mette Nørgaard, Mikel Alberdi-Saugstrup, Marek S. Zak, Susan M. Nielsen, Ellen Nordal, Klaus G. Müller, Nordic Study Group of Pediatric Rheumatology (NoSPeR), Mojca Zajc Avramovič, Vita Dolžan, Nataša Toplak, Tadej Avčin, N. Ruperto, D. J. Lovell, C. Wallace, M. Toth, I. Foeldvari, J. Bohnsack, D. Milojevic, C. Rabinovich, D. Kingsbury, K. Marzan, P. Quartier, K. Minden, E. Chalom, G. Horneff, R. M. Kuester, J. Dare, M. Heinrich, H. Kupper, J. Kalabic, H. I. Brunner, on behalf of PRINTO and PRCSG, Ruben Burgos-Vargas, Tamas Constantin, Joke Dehoorne, Valda Stanevica, Katarzyna Kobusinska, Zbigniew Zuber, Richard Mouy, Ingrida Rumba-Rozenfelde, Chantal Job-Deslandre, Ronald Pederson, Jack Bukowski, Tina Hinnershitz, Bonnie Vlahos, Paula Keskitalo, Salla Kangas, Paula Vähäsalo, Raul A. Chavez Valencia, David Martino, Anne-Louise Ponsonby, Rachel Chiaroni-Clarke, Braydon Meyer, Roger C. Allen, Jonathan D. Akikusa, Jeffrey M. Craig, Richard Saffrey, Justine A. Ellis, Carol Wallace, Yosef Uziel, Gary Sterba, Rayfel Schneider, Ricardo Russo, Athimalaipet V. Ramanan, Jana Pachlopnik Schmid, Kim E Nichols, Paivi Miettunen, Toshiyuki Kitoh, Norman T. Ilowite, Jan-Inge Henter, Alexei A Grom, Edward M. Behrens, Tadej Avcin, Maurizio Aricò, Sriharsha Grevich, Peggy Lee, Sarah Ringold, Brian Leroux, Hannah Leahey, Megan Yuasa, Jessica Foster, Jeremy Sokolove, Lauren Lahey, William Robinson, Joshua Newson, Anne Stevens, Stephanie J. W. Shoop, Suzanne M. M. Verstappen, Wendy Thomson, Janet E. McDonagh, CAPS, Timothy Beukelman, Yuki Kimura, Marc Natter, Norm Ilowite, Kelly Mieszkalski, Grendel Burrell, Brian Best, Helen Bristow, Shannon Carr, Anne Dennos, Rachel Kaufmann, Laura Schanberg, for the CARRA Registry Investigators, Gabriele Simonini, Francesca Lancini, Margaux Gerbaux, Phu-Quoc Lê, Laurence Goffin, Valérie Badot, Céline La, Laure Caspers, François Willermain, Alina Ferster, Maria Ceci, Francesco Licciardi, Marco Turco, Francesca Santarelli, Davide Montin, Claudia Toppino, Clotilde Alizzi, Bruno Papia, Beatrice Vergara, Umberto Corpora, Luca Messina, Maria Tsinti, Vasiliko Dermentzoglou, Panagiotis Tziavas, Marija Perica, Lana Tambić Bukovac, Mustafa Çakan, Nuray Aktay Ayaz, Gonca Keskindemirci, Michael Lang, Catherine Laing, Susanne Benseler, Tommy Gerschman, Nadia Luca, Heinrike Schmeling, Anastasia Dropol, Jaymi Taiani, Nicole Johnson, Brian Rusted, Panagiota Nalbanti, Polyxeni Pratsidou, Grigoris Pardalos, Vasiliki Tzimouli, Anna Taparkou, Maria Stavrakidou, Fotios Papachristou, Florence Kanakoudi-Tsakalidou, Peter Bale, Emily Robinson, Jason Palman, Elizabeth Ralph, Kimberly Gilmour, Clare Heard, Lucy R. Wedderburn, Yara Barrense-Dias, Antonarakis Gregory, Dhouib Amira, Scolozzi Paolo, Hanquinet Sylviane, Hofer Michaël, Nataliya Panko, Salah Shokry, Liudmila Rakovska, Sally Pino, Adriana Diaz-Maldonado, Pilar Guarnizo, Sofia Torreggiani, Paolo Cressoni, Umberto Garagiola, Giancarla Di Landro, Giampietro Farronato, Fabrizia Corona, Samantha Bell, Parveen Bhatti, Lee Nelson, Beth A. Mueller, T. A. Simon, A. Baheti, N. Ray, Z. Guo, Anasuya Hazra, Thomas Stock, Ronnie Wang, Charles Mebus, Christine Alvey, Manisha Lamba, Sriram Krishnaswami, Umberto Conte, Min Wang, Daniel Kingsbury, Elena Koskova, Elzbieta Smolewska, Richard K. Vehe, Daniel Lovell, Tomohiro Kubota, Junko Yasumura, Toshitaka Kizawa, Masato Yashiro, Tsuyoshi Yamatou, Yuichi Yamasaki, Syuji Takei, Yoshifumi Kawano, Ulrika Järpemo Nykvist, Bo Magnusson, Rikard Wicksell, Karin Palmblad, Gunnar L. Olsson, Mohammadreza Modaressi, Mohammad-Hassan Moradinejad, Valentina Seraya, Alisa Vitebskaya, Veronica Moshe, Gil Amarilyo, Liora Harel, Phillip J Hashkes, Amir Mendelson, Noa Rabinowicz, Yonit Reis, Zane Dāvidsone, Arina Lazareva, Ruta Šantere, Dace Bērziņa, Valda Staņēviča, Giulia Camilla Varnier, Susan Maillard, Cristina Ferrari, Silvia Zaffarano, Juvenile Dermatomyositis Research Group and European Federation of Immunological Societies, Judith Wienke, Felicitas Bellutti Enders, Lucas L. van den Hoogen, Jorre S. Mertens, Timothy R. Radstake, Henny G. Hotten, Ruth Fritsch, Lucy Wedderburn, Kiran Nistala, Berent Prakken, Annet van Royen-Kerkhof, Mohammad Alhemairi, Mohammed Muzaffer, Pieter Van Dijkhuizen, Claire T. Deakin, Stefania Simou, Maria De Iorio, Qiong Wu, Tania Amin, Lee Dossetter, Juvenile Dermatomyositis Research Group (JDRG), Raquel Campanilho-Marques, Claire Deakin, Clarissa A. Pilkington, on behalf of Juvenile Dermatomyositis Research Group (JDRG), Silvia Rosina, Sirisucha Soponkanaporn, on behalf of the UK Juvenile Dermatomyositis Research Group (JDRG), Zehra S. Arıcı, Gökçen D. Tuğcu, Ezgi D. Batu, Hafize E. Sönmez, Deniz Doğru-Ersöz, Beril Talim, Nural Kiper, Seza Özen, Alexander Solyom, Ezgi Batu, John Mitchell, Ariana Kariminejad, Fatemeh Hadipour, Zahra Hadipour, Marta Torcoletti, Carlo Agostoni, Maja Di Rocco, Pranoot Tanpaiboon, Andrea Superti-Furga, Luisa Bonafé, Nur Arslan, Norberto Guelbert, Karoline Ehlert, Giedre Grigelioniene, Ratna Puri, Edward Schuchman, Pilar Gomez, Tatiana Gonzalez, Ricardo Yepez, Camilo Vargas, GRIP study group, Falcini Fernanda, Gemma Lepri, Alessandra Ferrari, Marco Matucci-Cerinic, Antonella Meini, Gian Marco Moneta, Emiliano Marasco, Rebecca Nicolai, Luisa Bracci-Laudiero, Olga Kopchak, Alexander Mushkin, Alexey Maletin, Catalina Mosquera, Rita A. Amorim, Juliana Molina, Gustavo Moreira, Flávia H. Santos, Melissa Fraga, Livia Keppeke, Vanessa M. Silva, Camila Hirotsu, Sergio Tufik, Maria Teresa Terreri, Vinícius L. Braga, Maria Beatriz Fonseca, Vania Schinzel, Maria Teresa R. Terreri, Liliana Jorge, Liana Guerra, Edson Amaro Junior, Maria Cristina Castiglione, Alessandra Tricarico, Emily Boulter, Andre Schultz, Kevin Murray, Fernanda Falcini, Stefano Stagi, Eleonora Bellucci, Ingrid H. R. Grein, Gecilmara Pileggi, Natália B. F. Pinto, Aline L. de Oliveira, Lyudmila Belyaeva, Rostislav Filonovich, Helena Khrustaleva, Larisa Zajtseva, Jaanika Ilisson, Chris Pruunsild, Olivier Gilliaux, Francis Corazza, Christophe Lelubre, on behalf of PANLAR Pediatric Rheumatology Study Group, Zoilo Morel, Claudia Saad-Magalhães C, Luis Lira, Mabel Ladino, Ruth Eraso, Ivonne Arroyo, Clovis Silva, Carlos Rose, and PANLAR Pediatric Rheumatology Study Group

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2017
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8. Assessment of disease activity using a whole-body MRI derived radiological activity index in chronic nonbacterial osteomyelitis

Author

Laura Tanturri de Horatio, Flaminia Rivosecchi, Denise Pires Marafon, Manuela Pardeo, Paolo Tomà, Yongdong Zhao, Fabrizio De Benedetti, Virginia Messia, Martina Capponi, and Antonella Insalaco

Subjects
Male, medicine.medical_specialty, Whole body magnetic resonance imaging, Diseases of the musculoskeletal system, Children, Chronic nonbacterial osteomyelitis, CROMRIS, Disease activity, PGA, Child, Chronic Disease, Female, Humans, Osteomyelitis, Retrospective Studies, Magnetic Resonance Imaging, Whole Body Imaging, Pediatrics, RJ1-570, Rheumatology, Internal medicine, medicine, Immunology and Allergy, medicine.diagnostic_test, business.industry, Soft tissue, Magnetic resonance imaging, medicine.disease, Hyperintensity, Clinical trial, medicine.anatomical_structure, RC925-935, Pediatrics, Perinatology and Child Health, Mann–Whitney U test, Bone marrow, business, Nuclear medicine, Research Article
Abstract

Background Based on the recently developed ChRonic nonbacterial Osteomyelitis MRI Scoring tool (CROMRIS), we developed a radiological activity index (RAI-CROMRIS) to obtain a quantification of the overall bone involvement in individual patients. Methods Whole Body Magnetic Resonance Imaging (WB-MRI) images were scored according to parameters included in the RAI-CROMRIS: bone marrow hyperintensity, signal extension, soft tissue/periosteal hyperintensity, bony expansion, vertebral collapse. These parameters were evaluated for each bone unit yielding a score from 0 to 7 and summed up as RAI-CROMRIS including all bone units. We assessed clinical disease activity using a physician global assessment (PGA) and radiological findings in 76 treatment-naïve patients; 46 of 76 were evaluated at 6 and 12 months after initial WB-MRI. Quantitative variables were compared using the Mann-Whitney U test for unmatched groups and the Wilcoxon signed-rank test for paired groups. Correlation was evaluated using Spearman’s rank coefficient (rs). Results There was a significant correlation between RAI-CROMRIS and PGA (rs = 0.32; p = 0.0055), between RAI-CROMRIS and presence of elevated erythrocyte sedimentation rate (p = 0.013) and C-reactive protein (p = 0.0001) at baseline. The RAI-CROMRIS decreased from a median of 17 at baseline to 12 at 6 months (p = 0.004) and remained stable (median 11) at 12 months. A correlation between the RAI-CROMRIS and the PGA was observed at baseline (rs = 0.41; p = 0.004) and during follow up at 6 months (rs = 0.33; p = 0.025) and 12 months (rs = 0.38; p = 0.010). The baseline RAI-CROMRIS (median 20) was significantly higher in patients who subsequently received bisphosphonates than in patients who received other treatments (median 12) and decreased significantly after bisphosphonates (p = 0.008). Conclusions The RAI-CROMRIS was correlated with clinical and laboratory measures of disease activity showing significant short-term changes following treatment with bisphosphonates. This tool could be used in clinical practice and clinical trials after validation.

Published
2021

9. Tocilizumab for massive refractory pleural effusion in an adolescent with systemic lupus erythematosus

Author

Fabrizio De Benedetti, Rebecca Nicolai, Emanuela Sacco, Andrea Uva, Manuela Pardeo, Virginia Messia, Camilla Celani, Claudia Bracaglia, and Arianna De Matteis

Subjects
Male, medicine.medical_specialty, Anti-nuclear antibody, Adolescent, JSLE (Juvenile-onset Systemic Lupus Erythematosus) - Pleural effusion, Pleural effusion, Case Report, Diseases of the musculoskeletal system, Antibodies, Monoclonal, Humanized, Pediatrics, Gastroenterology, Severity of Illness Index, RJ1-570, chemistry.chemical_compound, Tocilizumab, Rheumatology, Refractory, Internal medicine, medicine, Immunology and Allergy, Humans, Lupus Erythematosus, Systemic, Interleukin 6, skin and connective tissue diseases, IL-6, biology, business.industry, medicine.disease, Pleural Effusion, RC925-935, chemistry, Pediatrics, Perinatology and Child Health, biology.protein, medicine.symptom, business, Malar rash, Serositis
Abstract

Background Pleural effusion in systemic lupus erythematous (SLE) is a common symptom, and recent studies demonstrated that IL-6 has a pivotal role in its pathogenesis. Case presentation We report a case of a 15 years old Caucasian boy with a history of persistent pleural effusion without lung involvement or fever. Microbiological and neoplastic aetiologies were previously excluded. Based on the presence of pleuritis, malar rash, reduction of C3 and C4 levels and positivity of antinuclear antibody (ANA) and anti-double stranded DNA (dsDNA), the diagnosis of juvenile SLE (JSLE) was performed. Treatment with high dose of intravenous glucocorticoids and mycophenolate mofetil was started with partial improvement of pleural effusion. Based on this and on adults SLE cases with serositis previously reported, therapy with intravenous tocilizumab (800 mg every two weeks) was started with prompt recovery of pleural effusion. Conclusion To the best of our knowledge, this is the first case of JSLE pleuritis successfully treated with tocilizumab.

Published
2021

10. Lesioni osteolitiche multiple: osteomielite cronica non batterica o istiocitosi?

Author

Marco F. Natale, Camilla Celani, Virginia Messia, Manuela Pardeo, Fabrizio De Benedetti, and Antonella Insalaco

Subjects
Geography, Planning and Development, Management, Monitoring, Policy and Law
Abstract

A case of a 7-year-old girl finally diagnosed with Langerhans cell histiocytosis is presented. The differential diagnosis between Langerhans cell histiocytosis and chronic nonbacterial osteomyelitis is discussed.

Published
2022
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11. A patient with stimulator of interferon genes–associated vasculopathy with onset in infancy without skin vasculopathy

Author

Claudia Bracaglia, Ivan Caiello, Fabrizio De Benedetti, Antonella Insalaco, Virginia Messia, Carmela Gerarda Luana Raffaele, Manuela Pardeo, Gianmarco Moneta, and Silvia Federici

Subjects
Fever, Osteoarthropathy, Primary Hypertrophic, Blood Sedimentation, Skin Diseases, Vascular, Antibodies, Antineutrophil Cytoplasmic, Rheumatology, Interferon, medicine, Humans, Pharmacology (medical), Medical history, Vascular Diseases, Age of Onset, Anti-neutrophil cytoplasmic antibody, Serum Amyloid A Protein, Vascular disease, business.industry, Interstitial lung disease, High-Throughput Nucleotide Sequencing, Infant, Membrane Proteins, Anemia, Sequence Analysis, DNA, medicine.disease, Arthralgia, Bronchiectasis, Failure to Thrive, C-Reactive Protein, Cough, Antibodies, Antinuclear, Child, Preschool, Immunoglobulin G, Stimulator of interferon genes, Interferon Type I, Immunology, Multiple Pulmonary Nodules, Female, Age of onset, Lung Diseases, Interstitial, business, Immunosuppressive Agents, Interferon type I, medicine.drug
Published
2019
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12. Anakinra in a Cohort of Children with Chronic Nonbacterial Osteomyelitis

Author

Fabrizio De Benedetti, Manuela Pardeo, Antonella Insalaco, Denise Pires Marafon, Maria Carmen Garganese, and Virginia Messia

Subjects
Male, medicine.medical_specialty, Adolescent, Immunology, Severity of Illness Index, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Rheumatology, Refractory, 030225 pediatrics, Internal medicine, medicine, Humans, Immunology and Allergy, In patient, Child, Retrospective Studies, 030203 arthritis & rheumatology, Anakinra, Nonsteroidal, medicine.diagnostic_test, business.industry, Osteomyelitis, Anti-Inflammatory Agents, Non-Steroidal, medicine.disease, Surgery, Interleukin 1 Receptor Antagonist Protein, Treatment Outcome, Bone scintigraphy, chemistry, Erythrocyte sedimentation rate, Retreatment, Cohort, Female, business, medicine.drug
Abstract

Objective.To report efficacy and safety in patients with chronic nonbacterial osteomyelitis (CNO) unresponsive to nonsteroidal antiinflammatory drugs (NSAID) and bisphosphonates and/or glucocorticoids treated with anakinra.Methods.Nine patients (6 females) with refractory CNO were treated with anakinra for at least 6 months. We recorded, at baseline and after 6 months of treatment, clinical and laboratory features, and number and distribution of bone lesions detected by 99mTc-MDP bone scintigraphy. Disease activity was evaluated using a physician’s global assessment (PGA).Results.At baseline, 9/9 patients had mild to severe PGA. After 6 months of treatment, in 5 patients the PGA score was graded from none to minimal. At baseline, erythrocyte sedimentation rate (ESR) and C-reactive protein (CRP) were elevated in 8 out of 9 patients. After 6 months, 5/9 patients had normalized CRP and ESR and in all except 1, CRP and ESR decreased. Before starting anakinra, a total of 77 bone lesions were detected by bone scintigraphy. After 6 months of treatment of the 77 lesions, 42 had resolved and 35 were stable. In 7/9 patients, 20 new lesions appeared during treatment; 2 of these 7 patients were symptomatic. At the last followup visit (median 1.7 yrs, range 0.8–2.8), 6/9 patients maintained a PGA graded as none to minimal.Conclusion.Anakinra is a possible therapeutic alternative in patients with refractory CNO. The practical significance of clinically silent bone lesions detected by bone scintigraphy remains to be established.

Published
2017
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13. THU0530 IDIOPATHIC RECURRENT PERICARDITIS: CLINICAL FINDINGS AND TREATMENT APPROACH

Author

Silvia Federici, Camilla Celani, Brigitte Bader-Meunier, Fabrizio De Benedetti, Pierre Quartier, Anna Tulone, Antonella Insalaco, Manuela Pardeo, Virginia Messia, and Claudia Bracaglia

Subjects
First episode, Anakinra, medicine.medical_specialty, education.field_of_study, medicine.diagnostic_test, business.industry, Population, medicine.disease, Discontinuation, Pericarditis, Acute pericarditis, Internal medicine, Erythrocyte sedimentation rate, medicine, Etiology, education, business, medicine.drug
Abstract

Background: Recurrent pericarditis affects 15-30% of patients with acute pericarditis. The etiology is poorly understood, with about 80% being idiopathic. Several treatment options are available for recurrences, including NSAIDs, colchicine, glucocorticoids and IL-1 inhibitors (i.e. Anakinra). Standardized guidelines for the management of these patients are still lacking Objectives: To analyze clinical findings and treatment approach in a cohort of pediatric patients with recurrent pericarditis Methods: Patients with at least two episodes of idiopathic pericarditis, followed at two Pediatric Rheumatology centers between 2006 and 2018, were included Results: A total of 42 patients (18 males) were included. Mean age at disease onset was 11.8 years (range 4-17). Chest pain and fever were the presenting symptoms in all patients. In 47% pleural effusion was detected. Laboratory tests showed increased white blood cell count (mean 14.509/mm3), C-reactive protein (mean 18.01 mg/dl) and erythrocyte sedimentation rate (mean 39 mm/h) in all patients. The first episode was variably treated: 18/42 (43%) received NSAIDs alone, 5/42 (11.9%), colchicine alone or associated to NSAIDs and 3/42 patients (7%) received antibiotics alone. 16/42 (38%), not responsive to NSAIDs or colchicine, received glucocorticoides. Patients who received glucocorticoids at the first episode relapsed earlier (median time of 2.1 months range 10 days-5 months), than patients treated with NSAIDs (6.6 months range 10 days -24 months) or with colchicine (5 months range 10 days-5 months) (p Conclusion: Our study confirms the lack of a standardized treatment approach in patients with recurrent pericarditis. Patients treated with glucocorticoid at first episode relapse before than those treated with other drugs. Anakinra is an effective treatment; however, tapering/discontinuation of the drug lead to relapses in several cases. Further experience on larger population is needed to define the best treatment duration and approach to withdrawal of IL-1 inhibitor Disclosure of Interests: Camilla Celani: None declared, Silvia Federici: None declared, Anna Tulone: None declared, Brigitte Bader-Meunier: None declared, Virginia Messia: None declared, Manuela Pardeo: None declared, Claudia Bracaglia: None declared, Pierre Quartier Consultant for: AbbVie, Chugai-Roche, lilly, Novartis, Novimmune, Sanofi, and SOBI, Consultant for: AbbVie, Chugai-Roche, Lilly, Novartis, Novimmune, Sanofi, and SOBI, Speakers bureau: AbbVie, BMS, Chugai-Roche, Novartis, Pfizer, and SOBI, Speakers bureau: AbbVie, BMS, Chugai-Roche, Novartis, Pfizer, and SOBI, Fabrizio De Benedetti Grant/research support from: Abbvie, SOBI, Novimmune, Roche, Novartis, Sanofi, Pfizer, Antonella Insalaco: None declared

Published
2019
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14. SAT0497 CLINICAL PICTURE OF 7 PAPA PATIENTS FOLLOWED IN A SINGLE PEDIATRIC RHEUMATOLOGIC CENTER

Author

Fabrizio De Benedetti, Giulia Marucci, Virginia Messia, Silvia Federici, Camilla Celani, Christoph Kessel, and Antonella Insalaco

Subjects
030203 arthritis & rheumatology, 0301 basic medicine, Anakinra, medicine.medical_specialty, Leukopenia, Anemia, business.industry, Arthritis, Neutropenia, medicine.disease, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Prednisone, Internal medicine, Sterile arthritis, medicine, Calprotectin, medicine.symptom, business, medicine.drug
Abstract

Background: Pyogenic sterile arthritis, pyoderma and acne (PAPA) syndrome is an autosomal dominant inflammatory disorder caused by mutations in the PSTPIP1 gene primarily affecting joints and skin. The E250K mutation cause the hyperzincaemia/hypercalprotectinemia syndrome termed PSTPIP1-associated-related proteinemia inflammatory (PAMI) syndrome in which a bone marrow involvement is reported Objectives: To describe the clinical presentation of 7 PAPA patients followed at a single pediatric rheumatology center Methods: For each patient clinical and laboratory data were collected from medical charts. PSTPIP1 was sequenced through Sanger Sequencing or targeted resequencing using a customized panel, and analyzed with the NextSeq® platform (Illumina) Results: We describe 7 patients from 4 unrelated families with the E250K mutation in a mother and 2 siblings, the A230T variant in a father and his son and the R405C and D266N respectively in the last 2 unrelated patients. Disease onset occurred within the 7th year of life in all patients. Patients 3 and 4 (table) presented since the 1st year of life recurrent episodes of fever without any cutaneous or articular symptoms. In both patients inflammatory markers were elevated during fever episodes, but persistently negative during wellbeing not requiring any therapy. The variants described in these patients were not previously reported. However their pathogenic role is supported by the detection of markedly high serum calprotectin levels (>10.000 microg/ml). The predominant feature of patients 1 and 2 was articular involvement with recurrent episodes of arthritis associated to acne. Patient 1 was initially treated with prednisone with good clinical response but relapse of arthritis at discontinuation followed by the development of a sterile muscle abscess. An anti-TNF drug was started in both patients with complete clinical response. Patient 5 reported severe acne and psoriasis, and recurrent episodes of sterile arthritis. She presented a persistent elevation of acute phase reactants with severe anemia and leukopenia not resolving after splenectomy. His son (pts 6) presented with recurrent episodes of sterile arthritis, hepato-splenomegaly, anemia and neutropenia. Zinc and calprotectin serum levels resulted respectively 728 micromol/l and 2600 microg/ml. IL-1 inhibition determined a complete normalization of inflammatory parameters with no effects on anemia and neutropenia. In patient 6 zinchemia decreased to almost normal value after 4 months of therapy. Patient 7 presented at the age of 4 years a sterile lymphnode abscess. She also presented with splenomegaly and neutropenia with persistent elevation of acute phase reactants. Anakinra was proposed but not administered for poor compliance Conclusion: The clinical picture of patients carrying PSTPIP1 mutation may be heterogeneous. In our cohort TNF-inhibitors were successfully used in PAPA patients preventing new arthritis episodes and resolving cutaneous manifestation where present. In 2 patients the clinical picture was mild not requiring continuous treatment. One PAMI patient had a good response to IL-1 inhibition, which however, had no effect on hematological manifestations Disclosure of Interests: : Silvia Federici: None declared, Camilla Celani: None declared, Virginia Messia: None declared, Giulia Marucci: None declared, christoph kessel: None declared, Fabrizio De Benedetti Grant/research support from: Abbvie, SOBI, Novimmune, Roche, Novartis, Sanofi, Pfizer, Antonella Insalaco: None declared

Published
2019
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15. FRI0554 DNASE1L3 VARIANT IN HYPOCOMPLEMENTEMIC URTICARIAL VASCULITIS SYNDROME IDENTIFIES A DIFFERENT CLINICAL PHENOTYPE

Author

Claudia Bracaglia, Virginia Messia, Fabrizio De Benedetti, Chiara Passarelli, Marina Vivarelli, Antonella Insalaco, Emanuela Sacco, Marco Ranalli, and Manuela Pardeo

Subjects
030203 arthritis & rheumatology, 0301 basic medicine, medicine.medical_specialty, medicine.diagnostic_test, Cyclophosphamide, business.industry, Azathioprine, Glomerulonephritis, medicine.disease, Dermatology, 03 medical and health sciences, 030104 developmental biology, 0302 clinical medicine, Genetic predisposition, Medicine, Renal biopsy, business, Vasculitis, Nephrotic syndrome, medicine.drug, Rare disease
Abstract

Background Hypocomplementemic urticarial vasculitis syndrome (HUVS) is a rare disease characterized by persistent urticarial lesions and hypocomplementemia associated with systemic features involving musculoskeletal, pulmonary, renal and gastrointestinal systems. Systemic lupus erythematosus (SLE) develops in >50% of patients with HUVS, although the pathogenesis is unknown. Objectives We describe 6 paediatric patients with HUVS, three of whom carry a homozygous variant of DNASE1L3 and present a peculiar clinical phenotype. Methods A Targeted Resequencing using a panel including genes already known to be mainly associated to Interferonopathies Lupus-like (DNASE1, DNASE2, DNASE1L3, TREX1) on the Illumina NextSeq® platform was performed. All variants identified were confirmed by Sanger sequencing and, when possible, family members were tested to study the segregation of identified variants. We applied in silico studies only to variants with an allelic frequency ≤1%. Results All patients described are Caucasian and 3 of them are female. Two patients presented at onset with extended cutaneous manifestation, joints and abdominal involvement with cholecystitis. They did not develop renal or pulmonary involvement. In contrast, the other four patients presented a more severe disease. All of them developed renal involvement (from microhaematuria up to nephrotic syndrome) with renal biopsy showing mesangial glomerulonephritis in three patients and pauci-immune glomerulonephritis (ANCA negative) in one. Moreover, two of them developed also pulmonary vasculitis (Table 1). A homozygous DNASE1L3 variant (c.290_291delCA) was identified in three of these patients. All of them were treated with glucocorticoid and dapsone at onset. Cyclophosphamide, mycophenolate mofetil and azathioprine were used in patients with renal involvement. None of them developed SLE. Conclusion HUVS is very rare disease in childhood. Approximately 50% of HUVS patients develop SLE. Genetic susceptibility to SLE is recognized and DNASE1L3-related SLE have been reported. Ozcakar et al. have described 5 children from two families with HUVS who carry the same variant on DNASE1L3 that we report here (1). Our patients confirm that variant in DNASE1L3 can cause HUVS and support the hypothesis that this variant is responsible of a more severe phenotype with major organ involvement (renal and pulmonary). Patients with HUVS need to be followed very strictly for the risk to develop SLE. Presence of variant in DNASE1L3 can identify patients with more severe disease and high risk to develop major organ involvement. These patients need more aggressive and possibly life-long immunosuppressive treatment. References [1] Ozcakar ZB, et al. DNASE1L3 Mutations in Hypocomplementemic Urticarial Vasculitis Syndrome. Arthritis Rheum. 2013Aug;65(8):2183-9. Disclosure of Interests Marco Ranalli: None declared, Chiara Passarelli: None declared, Virginia Messia: None declared, Manuela Pardeo: None declared, Emanuela Sacco: None declared, Antonella Insalaco: None declared, Marina Vivarelli: None declared, Fabrizio De Benedetti Grant/research support from: Abbvie, SOBI, Novimmune, Roche, Novartis, Sanofi, Pfizer, Claudia Bracaglia: None declared

Published
2019
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16. Efficacy and Adverse Events During Janus Kinase Inhibitor Treatment of SAVI Syndrome

Author

Paola Bocca, Suzanne W J Terheggen-Lagro, Paolo Tomà, Fabio Cardinale, Roberta Caorsi, Fabio Candotti, Chiara Passarelli, Gianmarco Moneta, Maria Derchi, Giuliana Cangemi, Margherita Ricci, Claudia Pastorino, Oliviero Sacco, Stefano Volpi, Elettra Santori, Marco Gattorno, Claudio Granata, Angelo Ravelli, Andrea Diociaiuti, Antonella Insalaco, Virginia Messia, Fabrizio DeBenedetti, Alessia Scarselli, Paolo Picco, Donata Girosi, Caterina Cancrini, May El Hachem, and Paediatric Pulmonology

Subjects
0301 basic medicine, Oncology, medicine.medical_specialty, Ruxolitinib, Immunology, Receptor, Interferon alpha-beta, Skin Diseases, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Pulmonary fibrosis, Nitriles, medicine, Immunology and Allergy, Humans, Janus Kinase Inhibitors, Respiratory function, Vascular Diseases, Adverse effect, Child, Recurrent fever, Janus kinase inhibitor, Settore MED/38 - Pediatria Generale e Specialistica, pulmonary fibrosis, business.industry, Interstitial lung disease, Membrane Proteins, Off-Label Use, Syndrome, medicine.disease, Pulmonary hypertension, Discontinuation, 030104 developmental biology, Pyrimidines, Treatment Outcome, JAK inhibitor, Child, Preschool, Interferon Type I, Pyrazoles, Female, Original Article, business, Lung Diseases, Interstitial, 030215 immunology, medicine.drug
Abstract

Objectives Mutations affecting the TMEM173 gene cause STING-associated vasculopathy with onset in infancy (SAVI). No standard immunosuppressive treatment approach is able to control disease progression in patients with SAVI. We studied the efficacy and safety of targeting type I IFN signaling with the Janus kinase inhibitor, ruxolitinib. Methods We used DNA sequencing to identify mutations in TMEM173 in patients with peripheral blood type I IFN signature. The JAK1/2 inhibitor ruxolitinib was administered on an off-label basis. Results We identified three patients with SAVI presenting with skin involvement and progressive severe interstitial lung disease. Indirect echocardiographic signs of pulmonary hypertension were present in one case. Following treatment with ruxolitinib, we observed improvements of respiratory function including increased forced vital capacity in two patients, with discontinuation of oxygen therapy and resolution of echocardiographic abnormalities in one case. Efficacy was persistent in one patient and only transitory in the other two patients. Clinical control of skin complications was obtained, and one patient discontinued steroid treatment. One patient, who presented with kidney involvement, showed resolution of hematuria. One patient experienced increased recurrence of severe viral respiratory infections. Monitoring of peripheral blood type I interferon signature during ruxolitinib treatment did not show a stable decrease. Conclusions We conclude that targeting type I IFN receptor signaling may represent a promising therapeutic option for a subset of patients with SAVI syndrome and severe lung involvement. However, the occurrence of viral respiratory infection might represent an important cautionary note for the application of such form of treatment. Electronic supplementary material The online version of this article (10.1007/s10875-019-00645-0) contains supplementary material, which is available to authorized users.

Published
2019

17. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function

Author

Immacolata Brigida, Lamberto Torralba-Raga, Radovan Dvorsky, Silvia Di Cesare, Andrea Finocchi, AnnaCarin Horne, Ivan K. Chinn, Serena Scala, Simone Martinelli, Antonia Pascarella, Asbjørg Stray-Pedersen, Erika Zara, Marco Tartaglia, Emily M. Mace, Franco Locatelli, Luca Pannone, Stefano Levi Mortera, Claudia Bracaglia, Giusi Prencipe, Mohammad Akbarzadeh, Paolo Palma, Petra Janning, Anna Pastore, Rita Carsetti, Mohammad Reza Ahmadian, Fabrizio De Benedetti, Michael R. Diehl, Petra Netter, Shalini N. Jhangiani, Richard A. Gibbs, Caterina Cancrini, Tram N. Cao, James R. Lupski, Alexandre F. Carisey, Vittorio Rosti, Pietro Merli, Alessandro Aiuti, Zeynep H. Coban-Akdemir, Donna M. Muzny, Yenan T. Bryceson, Francesca Pantaleoni, Martina Di Rocco, Serena Camerini, Marcello Niceta, Virginia Messia, Cristina Cifaldi, Marcel Buchholzer, Andrea Ciolfi, Michael T. Lam, Hans Christian Erichsen, Antonella Insalaco, Kim Ramme, Oliver H.F. Krumbach, Francesca Conti, Luca Basso-Ricci, Simona Coppola, Jordan S. Orange, Maria Chiriaco, Lorenza Putignani, Luciapia Farina, Lam, M. T., Coppola, S., Krumbach, O. H. F., Prencipe, G., Insalaco, A., Cifaldi, C., Brigida, I., Zara, E., Scala, S., Di Cesare, S., Martinelli, S., Di Rocco, M., Pascarella, A., Niceta, M., Pantaleoni, F., Ciolfi, A., Netter, P., Carisey, A. F., Diehl, M., Akbarzadeh, M., Conti, F., Merli, P., Pastore, A., Levi Mortera, S., Camerini, S., Farina, L., Buchholzer, M., Pannone, L., Cao, T. N., Coban-Akdemir, Z. H., Jhangiani, S. N., Muzny, D. M., Gibbs, R. A., Basso-Ricci, L., Chiriaco, M., Dvorsky, R., Putignani, L., Carsetti, R., Janning, P., Stray-Pedersen, A., Erichsen, H. C., Horne, A., Bryceson, Y. T., Torralba-Raga, L., Ramme, K., Rosti, V., Bracaglia, C., Messia, V., Palma, P., Finocchi, A., Locatelli, F., Chinn, I. K., Lupski, J. R., Mace, E. M., Cancrini, C., Aiuti, A., Ahmadian, M. R., Orange, J. S., De Benedetti, F., and Tartaglia, M.

Subjects
Male, Models, Molecular, 0301 basic medicine, Molecular Conformation, medicine.disease_cause, Mice, 0302 clinical medicine, Immunology and Allergy, Child, cdc42 GTP-Binding Protein, Research Articles, Mutation, Rash, Phenotype, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Cdc42 GTP-Binding Protein, 030220 oncology & carcinogenesis, Female, Disease Susceptibility, biological phenomena, cell phenomena, and immunity, medicine.symptom, Protein Binding, HLH, Genotype, Immunology, Inflammation, macromolecular substances, Lymphohistiocytosis, Hemophagocytic, Article, 03 medical and health sciences, Immune system, Cell Line, Tumor, medicine, Animals, Humans, Alleles, Genetic Association Studies, Cytopenia, Hemophagocytic lymphohistiocytosis, Binding Sites, business.industry, Infant, Immune dysregulation, CDC42, dyshematopoiesis, inflammation, RHO-GTPase, medicine.disease, 030104 developmental biology, Amino Acid Substitution, business
Abstract

Lam et al. characterize a novel hematological/autoinflammatory disorder due to a de novo recurrent missense mutation of CDC42. The authors use in silico, in vitro, and in vivo analyses to correlate the molecular mechanisms altering CDC42 function to the observed phenotype., Hemophagocytic lymphohistiocytosis (HLH) is characterized by immune dysregulation due to inadequate restraint of overactivated immune cells and is associated with a variable clinical spectrum having overlap with more common pathophysiologies. HLH is difficult to diagnose and can be part of inflammatory syndromes. Here, we identify a novel hematological/autoinflammatory condition (NOCARH syndrome) in four unrelated patients with superimposable features, including neonatal-onset cytopenia with dyshematopoiesis, autoinflammation, rash, and HLH. Patients shared the same de novo CDC42 mutation (Chr1:22417990C>T, p.R186C) and altered hematopoietic compartment, immune dysregulation, and inflammation. CDC42 mutations had been associated with syndromic neurodevelopmental disorders. In vitro and in vivo assays documented unique effects of p.R186C on CDC42 localization and function, correlating with the distinctiveness of the trait. Emapalumab was critical to the survival of one patient, who underwent successful bone marrow transplantation. Early recognition of the disorder and establishment of treatment followed by bone marrow transplant are important to survival., Graphical Abstract

Published
2019

19. Predictors of Flare Following Etanercept Withdrawal in Patients with Rheumatoid Factor-negative Juvenile Idiopathic Arthritis Who Reached Remission while Taking Medication

Author

Angela Aquilani, Emiliano Marasco, Francesca Perfetti, Denise Pires Marafon, Virginia Messia, Fabrizio De Benedetti, Rebecca Nicolai, and Silvia Magni-Manzoni

Subjects
Adult, Male, medicine.medical_specialty, Anti-nuclear antibody, Adolescent, Immunology, Arthritis, Etanercept, law.invention, 03 medical and health sciences, Young Adult, 0302 clinical medicine, Rheumatology, Interquartile range, law, Recurrence, Rheumatoid Factor, Risk Factors, Internal medicine, medicine, Immunology and Allergy, Juvenile, Humans, 030212 general & internal medicine, skin and connective tissue diseases, Child, 030203 arthritis & rheumatology, business.industry, Remission Induction, medicine.disease, Arthritis, Juvenile, Discontinuation, Substance Withdrawal Syndrome, Treatment Outcome, Antirheumatic Agents, Child, Preschool, Female, business, Uveitis, medicine.drug, Flare
Abstract

Objective.To evaluate the rate of flare after etanercept (ETN) withdrawal in patients with juvenile idiopathic arthritis (JIA) who attained clinical remission while taking medication, and to identify predictors of flare.Methods.Patients were included with oligo- (oJIA) and rheumatoid factor–negative polyarticular JIA (pJIA) who received a first course of ETN for at least 18 months, maintained clinically inactive disease (CID) for at least 6 months during treatment, and were followed for 12 months after ETN withdrawal. Demographic and clinical features were collected at onset, at baseline (initiation of ETN), and at time of disease flare.Results.After ETN withdrawal, 66 of the 110 patients enrolled (60%) flared with arthritis (of whom 7 flared with concurrent anterior uveitis; none with uveitis alone). The median time to flare was 4.3 months (interquartile range 2.5–6.4) with no evident differences between oJIA and pJIA. The number and type of joints involved at baseline and characteristics of ETN treatment/discontinuation were not associated with flare. Patients who flared were more frequently males (p = 0.034), positive for antinuclear antibody (ANA; p = 0.047), and had higher values of C-reactive protein (CRP; p = 0.012) at baseline. These variables remained significantly associated with flare in a multivariate logistic analysis, a model accounting for only 14% of the variability of the occurrence of the flare.Conclusion.Our results show that a significant proportion of patients with JIA who maintain CID for at least 6 months experience a relapse after ETN withdrawal. Male sex, presence of ANA, and elevated CRP at baseline were associated with higher risk of flare.

Published
2018

20. Proceedings of the 23rd Paediatric Rheumatology European Society Congress: part two

Author

David Kern, Masato Yashiro, Gerd Horneff, Ana P. Sakamoto, Berent J. Prakken, Paula Vähäsalo, Juergen Brunner, Ezgi H. Baris, Helen McCarthy, Janet E. McDonagh, A. Grom, Adriana Albu, Lenka Linkova, I. Nikishina, Daniel Álvarez de la Sierra, Bruno Papia, Peggy Lee, Luisa Giannone, Tobias Schwarz, Mekibib Altaye, Margarita Onoufriou, Tatiana Sleptsova, N. Ruperto, O Thana, A. Baheti, Ilonka Orbán, Kai Lehmberg, F. Zulian, Helga Sanner, Karin Palmblad, Kousuke Shabana, Sebastiaan Vastert, Marta Rusmini, Olga Vougiouka, Dirk Holzinger, D. Shaikhani, Shouichi Ohga, Ismail Dursun Dursun, Claire T Deakin, Ingrid Herta Rotstein Grein, Maria Trachana, Ariane Klein, Eugenia Enriquez, Angelo Ravelli, Paul A. Brogan, L.S. Nazarova, Laila Al Shaqshi, Paulina Vele, Liana Guerra, Antonia Pascarella, Jelena Vojinovic, Juliana Molina, Kjell Tullus, S. Rodionovskaya, Chris Scott, A. N. Olivieri, Cliff Taggart, Clare Heard, Ricardo Pujol Borrell, Jens Klotsche, Grendel Burrell, Oriany L. Pereira, Silvia Giliani, Sandra Pereira, Jennifer Horonjeff, Beth A. Mueller, Lyudmyla M. Byelyaeva, Sergio Tufik, Carlo Agostoni, Valentina Muratore, Rostislav M. Filonovich, Fiona Hawke, Virginia Messia, Bo Magnusson, Kerry West, Sara Murias, Mustafa Doğan, Hafize Emine Sönmez, Annet van Royen-Kerkhof, K. Minden, Raquel Campanilho-Marques, Reem Abdawani, Maria Ceci, Maria Ekelund, Seza Ozen, Ratna Puri, Girolamo Luppino, Shannon Carr, Rita A. Amorim, K Kobrová, Rachael D. Wright, Chantal Job-Deslandre, Daniel J. Lovell, Jorge Kalil, Yi-jin Gao, Kubra Ozturk, Fulvio Parentin, Ursula Fearon, Frank Weller-Heinemann, Elizabeth Ang, Charles A Mebus, Andrea Superti-Furga, Alina Ferster, Rikard Wicksell, Mohammadreza Modaressi, F La Torre, Ela Tarakci, Wendy Thomson, Giorgia Malighetti, Antonio Eleuteri, Helena K. Khrustaleva, Alan Easton, Alexander Mushkin, Sara Marsal Barril, Erkan Demirkaya, Florence Kanakoudi-Tsakalidou, Diana Ekdawy, Lana Tambić Bukovac, Suvi Peltoniemi, Nur Arslan, Hermine I. Brunner, Tim Rapley, Donatella Vairo, Kirill Savostyanov, Fumiko Okazaki, Rachel Corkhill, Tufan Kutlu, MG Alpigiani, Fabio Fernandes Morato Castro, Juliana Farhat, Butsabong Lerkvaleekul, Scolozzi Paolo, Akihiko Saitoh, Jason Dare, Gustavo Rocha, Tatiana V. Viktorova, Riva Brik, Jason Palman, Fabrizia Corona, Susan Nielsen, Johannes Roth, Ma. Theresa M. Collante, Leonardo Oliveira Mendonça, D. Alexeev, Randy Q. Cron, Sriharsha Grevich, Andrea L. Jorgensen, Lúcia Maria de Arruda Campos, Kiran Nistala, Fernando Martins, R. Cimaz, Angela C. Mosquera, Ruy Carrasco, Reyhan Dedeoglu, Giovanni Filocamo, J. Dare, Paula Keskitalo, Ana J. D. F. C. Lichtenfels, Florence Uettwiller, Umberto Conte, Gecilmara Salviato Pileggi, Michal Uher, Mercedes Chan, Sarka Fingerhutova, Anne M. Stevens, Peter Bale, Mikel Alberdi-Saugstrup, Olga L Kopchak, Thomas A. Griffin, Constantin Ailioaie, Clifton Bingham, Ekaterina Alexeeva, Loshinidevi D Bathi, Jane Hurst, AnnaCarin Horne, Laura Muntean, Nermin Uncu, Mara Carraro, C Vargas, Lorenzo Quartulli, Ayşenur Paç Kısaarslan, Angela Mauro, F. Corona, Donato Rigante, Helen J. Lachmann, Ana Cordeiro, Ivan Foeldvari, Faysal Gok, Tatiana Gonzalez, S. S. M. Kamphuis, Hasret Ayyildiz-Civan, Claudia Pastorino, Gleice C. S. Russo, J. B. Kuemmerle-Deschner, Serena Pastore, Nigel Klein, M. Jorini, Tatjana Freye, Maria Tsolia, Philippe Jacqmin, Suzanne M M Verstappen, Syuji Takei, Khalid Hussain, Renzo Marcolongo, Yuichi Yamasaki, Sharmila Jandial, K. Leon, Maria Pia Sormani, T. A. Simon, Mohammed Muzaffer, Catalina Mosquera, Clovis Aa Silva, Zelal Ekinci, Zübeyde Gündüz, Bernd Denecke, Felicitas Bellutti Enders, Despina Eleftheriou, Ishbel MacGregor, Andrew Cant, Luisa Bonafé, Valda Staņēviča, Helen E. Foster, Alberto Tommasini, Nora Bartholomä, Nural Kiper, A. Kardolus, Eloisa Bonfa, Alessandro Consolaro, Lillemor Berntson, Umberto Garagiola, Richard K. Vehe, Vanessa Bugni Miotto e Silva, Chihaya Imai, Kathleen G. Lomax, Brian Best, Barbara Bonafini, M. Toth, D. Rigante, Eiman Abdalla, Leona Prochazkova, Lucy Wedderburn, Lovro Lamot, S. Verazza, Raffaella Carlomagno, Gillian I. Rice, Norm Ilowite, K. de Leeuw, Havva Evrengül, Jerold Jeyaratnam, Andrew Zeft, Andrea Taddio, R. Podda, Samuel Cassidy, Grant S. Schulert, Silvia Rosina, Marija Jelušić, Olivier Gilliaux, Rubén Burgos-Vargas, Mao Mizuta, Akihiro Yachie, Angel Phuti, Antonio Zea Mendoza, Emily Boulter, Zane Dāvidsone, Sofia Torreggiani, Marco Cattalini, Natali W. Gormezano, Fatma Dedeoglu, Hercília Guimarães, A. Insalaco, Andrea Coda, Viktor A. Malievsky, Thomas Zumbrunn, Agostino Nocerino, Ronald Pederson, Katarzyna Kobusinska, Anasuya Hazra, Ananadreia S. Lopes, Elena Campione, Toshiyuki Kitoh, Elena Tsitsami, Henny G. Hotten, Radka Kaneva, R. J. E. M. Dolhain, Ndate Fall, Francesco Licciardi, Deepti Suri, G. D’Angelo, Valentina Seraya, Elżbieta Smolewska, Anastasia Dropol, Ezgi Deniz Batu, Andreas Woerner, Christine Arango, Nadia E. Aikawa, Zoilo Morel, Megan Yuasa, Sandra Ammann, Erbil Unsal, Tomohiro Kubota, Toshitaka Kizawa, Fabrizio De Benedetti, Catherine Laing, Liudmila Rakovska, Yonatan Butbul Aviel, J-Peter Haas, Marta Minute, Christine Alvey, Vasiliko Dermentzoglou, Vania Schinzel, Isree Leelayuwattanakul, Ekim Taskiran, Gabriele Simonini, N. Martin, Nathalie Canham, Nicky Brice, Beatrice Vergara, Ika Birkić, Cengizhan Acikel, Johannes-Peter Haas, Ruth Fritsch, Alisa Vitebskaya, Fatih Yazici, Iva Brito, Nataša Toplak, Veronica Moshe, Gordon J Hendry, Nadia Luca, Deniz Doğru-Ersöz, Marco Matucci-Cerinic, Claudia Toppino, Zoë Johnson, Beatrice Goilav, Siyaram Didel, K. Marzan, Tamar B. Rubinstein, Angela Barnicoat, Peter Nourse, Thita Pacharapakornpong, Adele Civino, Inmaculada Calvo Penades, H. I. Brunner, Massimo Imazio, V. Gerloni, Ayla Kacar, Heinrike Schmeling, Marija Perica, Silvestre García de la Puente, Tadej Avcin, Filipa Oliveira-Ramos, S. Arsenyeva, Phillip J Hashkes, Sabrina Schuller, Adriana Rodriguez Vidal, Kathy de Graaf, Giedre Januskeviciute, M. Kaleda, Lee Dossetter, Jelena Basic, Elena Kaschenko, Erik Sundberg, Gizem Pamuk, Marek Zak, I. Foeldvari, Rachael Quarmby, Marc D. Natter, Antonarakis Gregory, P. A. Brogan, João Eurico Fonseca, Andrea Jorgensen, Ana F. Mourão, Gaurav Gulati, Yelda Bilginer, Banu Acar Celikel, Utako Kaneko, Karen L. Durrant, Alice Grossi, Maurizio Aricò, Ibrahim Al Zakwani, Yildirim Karslioglu, Takuji Murata, Monika Stoll, Maria Teresa Terreri, Ariana Kariminejad, Teresa A. Simon, Laura B Lewandowski, Marina Garcia Prat, Walter G. Ferlin, Albena Telcharova, Giovanni Maria Severini, Judith Wienke, Panagiota Nalbanti, Hakan Poyrazoglu, Athimalaipet V. Ramanan, Manisha Lamba, Z. Guo, J. Bohnsack, Norberto Guelbert, John F. Bohnsack, Lucy R. Wedderburn, Elvira Cannizzaro Schneider, Raul Gutiérrez Suárez, Debra Grech, Yonit Reis, Chris Pruunsild, Amit Rawat, Nienke M. ter Haar, Hiroshi Tamai, Alexander Pushkov, A. De Fanti, Valentina Marzetti, Sheila Weitzman, I. E. M. Bultink, Dilek Keskin, Sania Valieva, Klaus Tenbrock, Ana Luisa Rodriguez-Lozano, Lianne Kearsley-Fleet, Luca Messina, Chiara Gorio, Amra Adrovic, Stephanie J. W. Shoop, Davide Cumetti, Sana Al Zuhbi, Helena Khrustaleva, E. Zirkzee, Elio Castagnola, Clarissa Pilkington, Jingyao Leong, Vitor A. Teixeira, Reinhard Würzner, Sonia Melo Gomes, Orla Killeen, Antony C. Fisher, Sevket Erbil Unsal, Edward M. Behrens, Kristiina Aalto, Rebecca Nicolai, Thomas C. Stock, Luiz Cláudio Danzmann, Y. K. O. Teng, Stephen D. Marks, Fotios Papachristou, Valda Stanevicha, Richard Saffrey, Elizabeth Ralph, Johannes Peter Haas, Mary Slatter, Maria Tsinti, Mehmet Alikasifoglu, Mónica Martínez Gallo, Rayfel Schneider, Rosa Maria Rodrigues Pereira, Maria F. D. A. Giacomin, Alfésio Luís Ferreira Braga, Giulia Camilla Varnier, James McElnay, Jessica Foster, Ingrida Rumba-Rozenfelde, Francesca Minoia, Laurence Goffin, Roger C. Allen, Zehra S. Arıcı, Mette Nørgaard, Alberto Martini, Hofer Michaël, Andreas Eikelberg, Junko Yasumura, Maria José Santos, Tom Wolfs, Ada B. Sinoplu, Natalia Balera Ferreira Pinto, Michael Lang, Umberto Corpora, Hidenobu Kaneyasu, Fiorenzo Gaita, Olga Lomakina, Dimitrina Mihaylova, Gian Luca Erre, Fugen Cullu-Cokugras, Mesut Topdemir, Sriram Krishnaswami, Irina Nikishina, Noortje Groot, S. Pastore, Joke Dehoorne, Paula Estanqueiro, Shafe Fahoum, Francisca Aguiar, Mabel Ladino, Nico M Wulffraat, Jana Franova, Helena Erlandsson-Harris, Denise Pires Marafon, Adrian Liston, Edward H. Schuchman, Jaime C. Branco, Maria Teresa R. Terreri, Radoslava Saraeva, Ulrika Järpemo Nykvist, Maria Cristina Maggio, Kazuko Yamazaki, Lídia Teixeira, Hanquinet Sylviane, Ricardo Yepez, Susan Maillard, Tommy Gerschman, G. Horneff, Anne-Louise Ponsonby, Meredith Riebschleger, Alessandra Alongi, José Melo-Gomes, Iris Haug, Maria De Iorio, Ekaterina Alekseeva, Jan-Inge Henter, Elisa Pisaneschi, H. Kupper, Martina Niewerth, Berta López Montesinos, Shunji Hasegawa, Zahra Hadipour, R. M. Kuester, Silvia Maestroni, Pilar Guarnizo, Antonio Brucato, Tamaki Nakamura, Gustavo Antonio Moreira, Chaim Putterman, A. Hospach, Joost Frenkel, Svetlana O Salugina, A. Ravelli, Pavla Dolezalova, Gunnar L. Olsson, Eva González-Roca, Ellen Dalen Arnstad, Mohammad Alhemairi, Tina Hinnershitz, P. Quartier, Yildirim Karsioglu, Davinder Singh Grewal, Sergio Davì, Gökçen D. Tuğcu, Tomo Nozawa, Emily Robinson, M. C. Maggio, Maria Ballabio, Eleonora Bellucci, Alexei A. Grom, Rosa M. Pereira, Federica Vanoni, Shumpei Yokota, Justine A. Ellis, Helen Bristow, Mohammad-Hassan Moradinejad, Ricardo Russo, Harun Evrengül, Mario Abinun, Laura Carenini, Francesca Santarelli, C. Wallace, Maria Beatriz Fonseca, Timothy Beukelman, Saša Sršen, Véronique Hentgen, Sezgin Sahin, Silvia Zaffarano, Salvatore Albani, Valentin Brodszky, Clovis A. Silva, Graciela Espada, Jana Pachlopnik Schmid, Margaux Gerbaux, Stefano Stagi, Valentina Leone, Brian Leroux, Isabelle Koné-Paut, Gabriella Giancane, Soley Omarsdottir, Benedetta Schiappapietra, Alessandra Carobbio, Ricardo Menendez-Castro, Yoshifumi Kawano, Ozge Erdemli, Monia Lorini, Arjan Boltjes, Ellen Nordal, Carol A. Wallace, Mustafa Çakan, Reni Tzveova, Stefano Lanni, Salah Shokry, Kirsty McLellan, Qiong Wu, Nilay Arman, Adelina Tsakova, Michael W. Beresford, A. Consolaro, Francesca Bovis, Margarita Ganeva, Christoph Kessel, A. Martini, Taichi Kanetaka, Andre Schultz, Flora McErlane, Ronnie Wang, Mojca Zajc Avramovič, Thaschawee Arkachaisri, Boris Huegle, Funda Öztunç, Jane E Munro, Yanick J. Crow, Hiroyuki Wakiguchi, Rita Fonseca, Kim E. Nichols, Mia Glerup, Nils Venhoff, R. Filonovich, Erika Van Nieuwenhove, Nadia Rafiq, Elena Kamenets, Yasuo Nakagishi, Giampietro Farronato, Consuelo Modesto Caballero, Tulay Erkan, Jan Bonhoeffer, Jack Bukowski, Myrthes Toledo Barros, Gladys C. C. Esteves, Mirta Lamot, Rosa Alcobendas, Cláudia Moura, Florencia María Barbé-Tuana, Joo Guan Yeo, Mark Friswell, Yuko Sugita, Ari Shapiro, Nagla Abdelrahman, Phu-Quoc Lê, Kevin Murray, Susanne M Benseler, Anna Monica Bianco, J. Kalabic, Ana Catarina Duarte, Ivan Caiello, Joyce Davidson, Maria Isabel Gonzalez Fernandez, Larisa Zajtseva, Ebun Omoyinmi, Jaime de Inocencio, Dragana Lazarevic, Ritambhra Nada, Claudia Saad-Magalhães C, G. Conti, Andrew Gennery, Caroline Jones, Christophe Lelubre, Brian Rusted, Geneviève Lapeyre, Giulia Zani, Alina Boteanu, Maria T. Terreri, Nataliya Panko, Julia Albrecht, Federica Mongini, Lucio Giordano, Daniela Kaiser, Robert Nelson, Hans-Iko Huppertz, Gonca Keskindemirci, Karla Ištuk, Raffaele Strippoli, Dorota Rowczenio, Emma MacDermott, Roberta Caorsi, Emiliano Marasco, Sandra Sousa, Fatoş Yalçınkaya, Jaanika Ilisson, Yuki Kimura, Marco Turco, Nami Okamoto, Parveen Bhatti, Ekaterina M. Kuchinskaya, Stefano Volpi, Min Wang, Jeffrey M. Craig, M. Bijl, Giusi Prencipe, Fatemeh Tahghighi, W. van Dijk, Christiaan Scott, Masaki Shimizu, Alexey Maletin, Braydon Meyer, Joost F Swart, Sylvia Costa Lima Farhat, Anna Taparkou, R. Fritsch-Stork, Paolo Cressoni, Reiji Hirano, I. Chyzheuskaya, Stefania Simou, Kseniya Isayeva, Mariluz Gámir Gámir, Paivi Miettunen, Francesca Ricci, Ruta Šantere, George Lazaros, Madeleine Rooney, Stefan Stefanov, Huseyin Ozkan, Céline La, Boris Hügle, Vita Dolžan, P. Barone, R. Gallizzi, Aline L. de Oliveira, Silvia Federici, Lauren J. Lahey, Kimme L. Hyrich, Claudia Saad-Magalhães, Selçuk Yüksel, Valda Stanevica, Silvia De Pauli, Seid-Reza Raeeskarami, Calin Lazar, Sema Akman, Laurence Chatel, Kirsten Minden, Ismaiel A. Tekko, Philipp Henneke, E. Cortis, Elena Košková, Gil Amarilyo, Ana M. Marín Sánchez, Antonella Insalaco, Z. Birsin Ozcakar, Melissa Mariti Fraga, Lena Klevenvall, Luis Lira, Phoi-Ngoc Duong, Tatiana Bzarova, Neus Quilis, Wilco de Jager, Gary Sterba, Rina Denisova, Miroslav Harjacek, Eve M D Smith, N Ruperto, Gemma Lepri, Evgeniya Chistyakova, Rachel Kaufmann, Liliana Lourenço Jorge, Violeta Panaviene, Helena Canhão, Riccardo Belli, Grigoris Pardalos, Larisa I. Zajtseva, Nicolino Ruperto, Ezgi Batu, Paola Montesano, Alexander Solyom, Nicola Smith, Ales Janda, Sagar Bhattad, Liora Harel, Philip N. Hawkins, Gozde Yucel, François Willermain, Paolo Picco, Alessandro Rimini, Gordana Susic, Esi M. Morgan, Jessica Beckmann, Arina Lazareva, Agustin Remesal, Özge Altuğ Gücenmez, Troels Herlin, Andreas Groll, T. Yuraga, Ekaterina Zaharova, Adriana E. M. Sallum, Zeynep Birsin Özçakar, D. Milojevic, Can Kosukcu, Isabella Ceccherini, Sandrine Lacassagne, Tania M. Castro, R. Consolini, Klaus Müller, Dogan Simsek, Frank Rühle, Katia Kozu, Femke van Wijk, Yasin Sahin, Jonathan S. Hausmann, Gokalp Basbozkurt, M. Cattalini, Mª José Santos, Norman T. Ilowite, Adriana M. E. Sallum, Simona Rednic, Sirisucha Soponkanaporn, Giancarla Di Landro, Semanur Özdel, Timothy R. Radstake, Anastasia Wiener, Betül Sözeri, Estefania Quesada-Masachs, E. Zholobova, Joshua Newson, Ozgur Kasapcopur, Davide Montin, Terence Flood, Amir Mendelson, Manuela Pardeo, Flávia Heloísa dos Santos, Jamie Eaton, Vignesh Pandiarajan, Lyudmila Belyaeva, Edson Amaro Junior, Claudio Arnaldo Len, Tamás Constantin, Livia de Freitas Keppeke, Cristina Ferrari, Margarita Soloshenko, C. Rabinovich, David Popp, Jeremy Sokolove, Jaymi Taiani, Chiara Passarelli, de Min Cristina, José Costa, Stefanie Herresthal, Thomas Giner, Laure Caspers, Dilek Konukbay, Ulrich Salzer, Jorre S. Mertens, Marijan Frković, Yosef Uziel, Sabrina Chiesa, Luisa Bracci-Laudiero, Anders Fasth, Raul A. Chavez Valencia, Jordan T. Jones, Francesca Lancini, Alessandra Ferrari, Dana Nemcova, Mark Difrancesco, Ricardo Figueira, John Mitchell, Zohreh Nademi, E. Fedorov, Thomas Vogl, Carine Wouters, Mónica Eusébio, Hannah Leahey, Alessandra Pontillo, Marco Gattorno, Mandica Vidović, Lucas L. van den Hoogen, Mikhail Kostik, Giovanni Corsello, Gian Marco Moneta, Richard Mouy, Mariana Rodrigues, Veronica Medeghini, Gökçe Gür, Lucas Kich Grun, Stephan Ehl, Edi Paleka Bosak, Walter Ferlin, Hanna Lythgoe, Tsuyoshi Yamatou, Navdha R. Ramchurn, Carolina Furtado, Estefania Barral, Cecilia Lazea, Nikolay Tzaribachev, Vahid Ziaee, Fatemeh Hadipour, Alberto Sifuentes Giraldo, Kimberly Gilmour, Marite Rygg, Anna Valenti, María M Katsicas, Raju Khubchandani, Despoina Maritsi, Alessandra Tesser, R. M. Laxer, Clotilde Alizzi, Francisco Rivas-Larrauri, Aysen Tezcaner, Anne Dennos, Vasiliki Tzimouli, Vibeke Strand, Banu Acar, Fabio Candotti, Kseniia V. Danilko, Joachim Schultze, María Luz Gámir Gámir, Alessia Omenetti, Berit Flatø, Ruth Eraso, Bernard Lauwerys, Angela Pistorio, Andressa G. F. Alves, Gerd Ganser, Sara Signa, Ana Lopes, Emese Kiss, Charlene Foley, Sylvia Kamphuis, Maja Di Rocco, Kenan Barut, Ilaria Parissenti, Aida Koka, Nicholas Ng, Francis Corazza, Vinícius L. Braga, Laura E. Schanberg, Karin Beutel, Camila Hirotsu, Jonathan D Akikusa, Mihaela Sparchez, Karoline Ehlert, Jordi Anton, Adriana M. Sallum, Maria Cristina Castiglione, Surjit Singh, Julie Jones, Katya Temelkova, Tania S. Amin, Jasmin B Kuemmerle-Deschner, Samantha Bell, Sakda A.-O. Vallipakorn, Manuel Salgado, Filipa Ramos, Balahan Makay, Nadezhda Tsurikova, Gianmaria Viglizzo, Rosalba Ferraro, Sandra Hansmann, Nilgün Çakar, Ismail Dursun, Maria Stavrakidou, T. Bzarova, Sally Pino, Dhouib Amira, Salla Kangas, Antonella Meini, Dirk Foell, Dolunay Gürses, Dace Bērziņa, A. Speziale, Juan I. Arostegui Gorospe, Kelly L. Mieszkalski, Dawn M. Wahezi, S. Davì, Radoslav Srp, Daniel J. Kingsbury, Alexei A Grom, Falcini Fernanda, Peng Yin, Claire T. Deakin, Eva Hlavackova, Pavla Doležalová, Maria Mercedes Picarelli, Ezgi D. Batu, Alessandra Tricarico, Soamarat Vilaiyuk, Ivan Costa-Filho, A. Civino, Lukas Hackl, Pilar Gomez, Michael Hofer, M Manuela Costa, Zbigniew Zuber, Elena Ligostaeva, Carlos D. Rose, Jozef Hoza, Pranoot Tanpaiboon, Bonnie Vlahos, Sandra Garrote Corral, Martina Finetti, Giedre Grigelioniene, Susanne M. Benseler, X Wei, Pieter Van Dijkhuizen, Lee Nelson, Elettra Santori, David Martino, Anju Gupta, Nuray Aktay Ayaz, Noa Rabinowicz, Susan Shenoi, Rachel Chiaroni-Clarke, Claudia Bracaglia, Ruhan Düşünsel, M. Hofer, Rolando Cimaz, Juan I. Aróstegui, Ana Filipa Mourão, Ivonne Arroyo, Laura Damian, Marco F. C. D. Silva, D. J. Lovell, Marta Torcoletti, Clara Malagón, Luisa Klotz, Krisztina Sevcic, Douglas Veale, Belen Serrano Benavente, N. Groot, Polyxeni Pratsidou, Nicole Johnson, Karen Wynne, SR Rodionovskaya, Melania Saifridova, Kaara Tiewsoh, Ryan F. Donnelly, Fernanda Falcini, Valérie Badot, M. G. Alpigiani, L. Breda, Farida Abduragimova, Veronika Gjertsen Rypdal, Sophie Hambleton, E. Chalom, Anna Horne, Antonio Novelli, O. Kostareva, Panagiotis Tziavas, Yara Barrense-Dias, Cecilia Bava, Sarah Ringold, William H. Robinson, Sirirat Charuvanij, D. Kingsbury, Shuichi Ito, Luiz A. A. Pereira, Marcus Herbert Jones, S. I. Valieva, Flavio Sztajnbok, Florence Guilhot, Cristina de Min, Adriana Diaz-Maldonado, Simone A. Lotufo, Beril Talim, M. Heinrich, Paul Newland, and Laura Pagani

Subjects
030203 arthritis & rheumatology, 03 medical and health sciences, medicine.medical_specialty, 0302 clinical medicine, Rheumatology, business.industry, 030220 oncology & carcinogenesis, Family medicine, Pediatrics, Perinatology and Child Health, medicine, Immunology and Allergy, business, Paediatric rheumatology
Published
2017
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21. Wandering spleen

Author

Matteo Luciani, Stefania Bernardi, Patrizia D'Argenio, Chiara Grimaldi, Hyppolite K. Tchidjou, Maria Assunta Castelluzzo, Virginia Messia, and Lidia Monti

Subjects
Male, Hyperhomocysteinemia, medicine.medical_specialty, Adolescent, business.industry, medicine.medical_treatment, Splenectomy, Wandering Spleen, Infarction, Thrombosis, Spleen, Hematology, General Medicine, Gene mutation, medicine.disease, Asymptomatic, Surgery, medicine.anatomical_structure, Splenic vein, medicine, Humans, medicine.symptom, Wandering spleen, business, Ultrasonography
Abstract

The term 'wandering spleen' refers to an abnormal hypermobility of the spleen, which may be congenital or acquired. The absence or abnormal laxity of splenic ligaments combined with an abnormally long and mobile vascular pedicle predispose to complications such as torsion of the splenic pedicle, infarction and splenic vein thrombosis. The clinical presentation of such disease is highly variable. In this case, we describe an asymptomatic case of wandering spleen in high thrombotic risk patients with cavernoma of splenic vein and infarction of the spleen. Physical examination was normal except the enlarged and no tender consistency spleen palpable at left iliac fossa. Ultrasonography revealed enlarged spleniform mass below its normal position suggesting vascular impairment and subsequently has been confirmed by colour Doppler ultrasound and computed tomography. The family history was positive for ischemic thrombotic vascular diseases and the screening for thrombotic risk has revealed hyperhomocysteinemia, thrombophilic homozygous gene mutations for factor V (H1299R) and MTHFR (C677T). For high thrombotic risk, prophylaxis postsplenectomy was suggested according to the international recommendations with subcutaneous low molecular weight heparin, associated with a preventive treatment with acetyl salicylic acid and folic acid along with B-vitamin. This case report may be helpful for clinicians involved in the care of splenectomized patients, because it has shown the importance of an appropriate pre and postoperative antithrombotic management to reduce as soon as possible the risk of thrombotic events in such patients after splenectomy.

Published
2014
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22. Whole-Body MRI versus bone scintigraphy: which is the best diagnostic tool in patients with chronic recurrent multifocal osteomyelitis (CRMO)?

Author

S Savelli, M Pardeo, L Tanturri de Horatio, F De Benedetti, Antonella Insalaco, Ines Casazza, MC Garganese, MF Villani, and Virginia Messia

Subjects
Sacroiliac joint, medicine.medical_specialty, Pathology, Axial skeleton, medicine.diagnostic_test, Appendicular skeleton, business.industry, Chronic recurrent multifocal osteomyelitis, medicine.disease, Rheumatology, medicine.anatomical_structure, Bone scintigraphy, Internal medicine, Poster Presentation, Pediatrics, Perinatology and Child Health, medicine, Etiology, Immunology and Allergy, In patient, Pediatrics, Perinatology, and Child Health, Radiology, business
Abstract

Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disorder of unknown etiology with a wide range of clinical manifestations. Since CRMO is a systemic disorder that can affect multiple skeletal sites, whole-body imaging techniques (whole body bone scintigraphy -WBBS- or whole body magnetic risonance -WBMRI-) provide major contribution to the initial diagnostic approach, as well as during follow-up.

Published
2015
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23. Chronic recurrent multifocal osteomyelitis (CRMO): typical patterns of bone involvement on MRI with particular emphasis on Whole Body MRI (WBMRI)

Author

F De Benedetti, Virginia Messia, Domenico Barbuti, S Savelli, L Tanturri de Horatio, M Pardeo, Antonella Insalaco, Paolo Tomà, and Ines Casazza

Subjects
medicine.medical_specialty, Pathology, medicine.diagnostic_test, business.industry, digestive, oral, and skin physiology, Whole body mri, Chronic recurrent multifocal osteomyelitis, medicine.disease, behavioral disciplines and activities, humanities, Rheumatology, Bone scintigraphy, Internal medicine, Poster Presentation, Pediatrics, Perinatology and Child Health, medicine, Etiology, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business
Abstract

Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disorder of unknown ethiology. The clinical manifestations of CRMO are highly variable. One to 20 sites can be affected at one time. Since CNO is a systemic disorder that can affect multiple skeletal sites, whole-body imaging techniques (Tc-99 bone scintigraphy or MRI) provide major contribution to the initial diagnostic approach, as well as during follow-up.

Published
2015
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24. Anakinra in Systemic Juvenile Idiopathic Arthritis: A Single-center Experience

Author

M Pardeo, Fabrizio De Benedetti, Rebecca Nicolai, Antonella Insalaco, Claudia Bracaglia, Virginia Messia, and Denise Pires Marafon

Subjects
musculoskeletal diseases, Male, medicine.medical_specialty, Immunology, Arthritis, Disease, Single Center, Severity of Illness Index, Rheumatology, Internal medicine, Severity of illness, Immunology and Allergy, Medicine, Juvenile, Humans, Child, Anakinra, business.industry, Remission Induction, medicine.disease, Pathophysiology, Arthritis, Juvenile, Interleukin 1 Receptor Antagonist Protein, Treatment Outcome, Concomitant, Antirheumatic Agents, Child, Preschool, Physical therapy, Female, business, medicine.drug
Abstract

Objective.To assess anakinra as a therapy for systemic juvenile idiopathic arthritis (sJIA) in a single-center series.Methods.We reviewed 25 patients with sJIA treated with anakinra for at least 6 months. The primary outcome was the number of patients who achieved clinically inactive disease at 6 months, according to preliminary criteria for inactive disease and clinical remission of JIA.Results.Among 25 patients evaluated, 14 (56%) met the criteria for inactive disease at 6 months and were classified as responders. For each individual patient, we compared the dose administered with the ideal dose of anakinra and we found that there was no relation with response. We also compared demographic characteristics and clinical and laboratory features at baseline in responders and non-responders: no differences were observed in relation with the number of active joints before starting anakinra or concomitant glucocorticoids treatment. The only variable significantly associated with response was the time from disease onset to receiving anakinra, with earlier treatment being associated with a better outcome.Conclusion.Anakinra is associated with rapid attainment of inactive disease in a significant portion of patients. We found that only the earlier treatment is associated with better outcome. However, formal studies on early treatment and on the pathophysiology and response to treatments, including anakinra, of early- and late-onset sJIA are needed to optimize the management of this challenging disease.

Published
2015

25. Clinical presentation and cytokine production abnormalities in a cohort of patients carrying NLRP12 gene variants

Author

Antonella Insalaco, Giusi Prencipe, Claudia Bracaglia, Lidia Meli, Elisa Pisaneschi, Denise Pires Marafon, Elisabetta Cortis, Fabrizio De Benedetti, Rebecca Nicolai, Francesca Romana Lepri, Valeria Gerloni, Virginia Messia, Manuela Pardeo, and Luigi Raganelli

Subjects
medicine.medical_specialty, Anakinra, Pediatrics, business.industry, medicine.medical_treatment, Autosomal dominant trait, Rheumatology, Cytokine, Internal medicine, Poster Presentation, Pediatrics, Perinatology and Child Health, Cohort, Immunology, Immunology and Allergy, Medicine, Pediatrics, Perinatology, and Child Health, Presentation (obstetrics), business, Gene, medicine.drug
Abstract

The NLRP12 related autoinflammatory disorder (NLRP12-RD) is a rare autosomal dominant disease,caused by mutations in the NLRP12 gene.Clinical manifestations are extremely heterogeneous.At present,only few cases have been described.Patients occasionally required treatment with steroids and NSAIDS for short periods.Treatment with Anakinra induced an initial good response,that appears to decrease over time.

Published
2014
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26. Genetic prothrombotic factors in children with otogenic lateral sinus thrombosis: five case reports

Author

Marika Viccaro, Paola Zangari, Virginia Messia, Francesco Randisi, Matteo Luciani, P. Marsella, Franco Locatelli, and Sergio Bottero

Subjects
Male, Pediatrics, medicine.medical_specialty, Mastoiditis, Risk Factors, medicine, Humans, In patient, Child, Methylenetetrahydrofolate Reductase (NADPH2), Lateral Sinus Thrombosis, biology, business.industry, Medical record, Factor V, Hematology, General Medicine, medicine.disease, Thrombosis, Otitis Media, Methylenetetrahydrofolate reductase, Child, Preschool, biology.protein, Female, Prothrombin, Factor V Leiden mutation, Complication, business
Abstract

Lateral sinus thrombosis (LST) is an uncommon, but life-threatening complication of both acute and chronic otitis media. There is some evidence that acquired or hereditary prothrombotic disorders are risk factors for LST. The aim of this work was to evaluate the role of thrombotic screening, anticoagulant therapy or prophylaxis in patients with either acute or chronic otitis media and LST. The medical records of five children hospitalized at Pediatric Hospital Bambino Gesu of Rome because of acute or chronic otitis media complicated by mastoiditis and LST were reviewed. All children underwent laboratory workup for hypercoagulability. All the five children were found to be heterozygote for the C677T MTHFR mutation and a child presented also heterozygosity for factor V Leiden mutation. They have been successfully treated with anticoagulant therapy without sequels. Children with acute or chronic otitis media may have a prothrombotic tendency that becomes clinically evident because of the inflammatory state. Patients with a family and/or personal history of thrombosis and/or thrombophilic conditions need anticoagulant prophylaxis also in the absence of clear signs of LST. Treatment with low molecular weight is successful in patients with LST.

Published
2011

27. FRI0323 Cronic Non-Bacterial Osteomyelitis (CNO) in a Cohort of Pediatric Patients: Clinical, Biological and Radiological Response to Treatment with Anakinra

Author

F De Benedetti, Rebecca Nicolai, Virginia Messia, Antonella Insalaco, Claudia Bracaglia, M Pardeo, and Denise Pires Marafon

Subjects
medicine.medical_specialty, Anakinra, medicine.diagnostic_test, business.industry, Pleural effusion, medicine.medical_treatment, Osteomyelitis, Immunology, Bisphosphonate, medicine.disease, Gastroenterology, Asymptomatic, General Biochemistry, Genetics and Molecular Biology, Surgery, Rheumatology, Bone scintigraphy, Internal medicine, Erythrocyte sedimentation rate, medicine, Immunology and Allergy, medicine.symptom, business, Subclinical infection, medicine.drug
Abstract

Background Chronic nonbacterial osteomyelitis (CNO)is the most common autoinflammatory bone disorders in childhood (1). CNO remains a diagnosis of exclusion because of the absence of specific clinical or laboratory findings.An important role in the diagnosis could be provided by whole body imaging techniques as TC-99 bone scintigraphy and/or whole body MRI. The treatment is not standardized;non-steroidal anti-inflammatory drugs (NSAIDs), glucocorticoids, bisphosphonates and tumour necrosis factor neutralizing agents have been used until now with variable response (2). Objectives To describe clinical, biological and radiological response to treatment with IL-1 receptor antagonist (anakinra) in a cohort of patients with CNO. Methods Seven patients with CNO refractory to NSAIDs, glucocorticoids and bisphosphonate (pamidronate) were treated with anakinra for at least 6 months in our institution. Response of treatment was evaluated assessing clinical manifestations (pain, local swelling, functional impairment), laboratory findings (C-reactive protein [CRP], erythrocyte sedimentation rate [ESR] and serum amyloid A level [SAA]) and number of bone lesions on TC-99 bone scintigraphy at the start of treatment and in a 6 months follow-up. Results Seven patients (4 females and 3 males) were included in this study. The median age at diagnosis was 9.7 years (IQR 7.8-14.7) and the median age before starting anakinra treatment was 13.3 years (IQR 8.0-15.9). All the patients were treated with NSAIDs and bisphosphonates as first-line therapy. Glucocorticoid therapy was required in one patients with concomitant recurrent fever and pleural effusion. These patients did not respond satisfactorily and we decide to use anakinra (2 mg/kg/day) to control disease activity. At the start of treatment 7/7 patients (100%) had pain, 3/7 (43%) local swelling and 5/7 (71%) functional impairment; at 6 months of follow up 6/7 patients (86%) were completely asymptomatic, with one patient complaining of arthralgia. Before starting anakinra the median CRP, ESR and SAA were 2.7 mg/dl (IQR 1.7-4.9) 26 mm/h (IQR 12-46) and 53 mg/dl (IQR 27-112); at 6 months 5/7 patients (71%) have normalized CRP, ESR and SAA, 2/7 had a decrease in inflammatory markers. Before anakinra 59 osseous lesions were detected on TC-99 bone scintigraphy. After 6 months of therapy 24/59 lesions (40%) had completely resolved, 1/59 lesions (2%) had partially improved and 29/59 lesions (49%) remained stable. In two patients with persistent high biological inflammatory markers, new lesions (14) developed during treatment. Conclusions Our data suggest that anakinra appears effective in CNO patient, who have not responded to standard of care, in controlling symptoms and laboratory findings, although subclinical bone inflammation was still detectable by bone scintigraphy after 6 months of treatment. Long-term follow-up studies with a larger number of patients are needed. References Sara M. Stern, Polly J. Ferguson. Autoinflammatory Bone Diseases. Rheum Dis Clin N Am 39 (2013) 735-749. H J Girschick, P Raab, S Surbaum, A Trusen, et al. Chronic non-bacterial osteomyelitis in children. Ann Rheum Dis 2005;64:279-285. Disclosure of Interest None declared

Published
2015
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28. SAT0325 Chronic Recurrent Multifocal Osteomyelitis (CRMO): Typical Patterns of Bone Involvement on MRI with Particular Emphasis on Whole Body MRI (WBMRI)

Author

M Pardeo, F De Benedetti, Antonella Insalaco, S Savelli, Domenico Barbuti, L Tanturri de Horatio, Ines Casazza, Paolo Tomà, and Virginia Messia

Subjects
medicine.medical_specialty, Sternum, medicine.diagnostic_test, business.industry, Immunology, Chronic recurrent multifocal osteomyelitis, medicine.disease, General Biochemistry, Genetics and Molecular Biology, medicine.anatomical_structure, Rheumatology, Bone scintigraphy, Clavicle, Coronal plane, medicine, Immunology and Allergy, Triradiate cartilage, Femur, Tibia, Radiology, business
Abstract

Background Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disorder of unknown ethiology. The clinical manifestations of CRMO are highly variable. One to 20 sites can be affected at one time. Since CNO is a systemic disorder that can affect multiple skeletal sites, whole-body imaging techniques (Tc-99 bone scintigraphy or MRI) provide major contribution to the initial diagnostic approach, as well as during follow-up (1-2). Objectives To evaluate typical patterns of bone involvement on MRI in paediatric patients with CRMO. Methods We retrospectively reviewed 112 MRI performed at the diagnosis and during follow-up from 2010 to 2014 of 40 children with CRMO. Thirty-two patients underwent bone biopsy that confirmed the diagnosis. 28/40 (70%) underwent one or more WBMRI. Coronal STIR images were obtained in all children. Additional sequences were performed in doubtful cases. Results A total of 360 lesions were detected. Lesions were multifocal in 36/40 patients (90%) and were symmetric in at least one localization in 24/40 patients (60%). In 30/40 patients (75%) lesions were located on the metaphyses of long bones (especially femur and tibia) close to one or both sides of an epiphyseal or apophyseal growth plate and/or on pelvic bones (particularly on the sacro-iliac joints and close to the triradiate cartilage) and/or on clavicle/sternum. The spine was involved in 14/40 (34.1%) patients, in all but 2 in combination to the submentioned locations. No patients had carpal or head bone involvement, 16/40 had tarsal involvement. Conclusions MRI, and particularly WBMRI, should be considered the diagnostic modality of choice in patients with clinical multifocal pain. Simmetricity, multifocality and particularly specific patterns of lesions appear highly suggestive of CRMO. References De Somer L. et al. Total body MRI, a guide to diagnosis in patients with osteo-articular pain and inflammation. Arthritis Rheumatol. 2014 March;66(S3):S119 Falip C. et al. Chronic recurrent multifocal osteomyelitis (CRMO): a longitudinal case series review. Pediatr Radiol. 2013 Mar;43(3):355-75. Disclosure of Interest None declared

Published
2015
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29. OP0008 Single Center Experience in Next Generation Sequencing for Genetic Diagnosis of Autoinflammatory Disorders (AIDS)

Author

M Pardeo, F. De Benedetti, Antonella Insalaco, D. Minervino, Elisa Pisaneschi, Francesca Romana Lepri, and Virginia Messia

Subjects
Sanger sequencing, Genetics, education.field_of_study, Candidate gene, business.industry, Immunology, Population, MEFV, General Biochemistry, Genetics and Molecular Biology, DNA sequencing, symbols.namesake, Rheumatology, Genotype, symbols, Immunology and Allergy, Medicine, Allele, education, business, Gene
Abstract

Background Autoinflammatory disorders (AIDs) represent a group of complex diseases characterized by periodic or chronic systemic inflammations with involvement of various organs and systems in the absence of evidence of autoimmunity or infections. Mutations in more than 15 genes, affecting several distinct pathways, have been associated with autoinflammatory recessive/dominant syndromes [1]. The molecular genetic analysis of these diseases based just on the candidate gene has low efficiency and it9s time consuming and expensive. Next Generation Sequencing (NGS) has emerged in the last year as new diagnostic tool in this field. Objectives To share data obtained by the application of NGS in a cohort of patients affected by an AIDs of undefined origin evaluated at our center. Methods In this study we enrolled 145 patients evaluated at our center from 2010 to 2014,affected by undefined AIDs. In order to improve variant detection, to reduce diagnosis time and to correlate phenotype of patients with their genotype on multiple genes, we developed NGS approaches starting with 11 genes (divided into two panels), already known to be involved in AID (Panel 1: MVK, MEFV, NRLP12, NRLP3, NOD2, TNFRSF1A and PSTPIP1; Panel 2: IL1RN, LPIN2, IL36RN, PSMB8). Targeted resequencing was performed using a uniquely customized panel and analyzed with the MiSeq® sequencing platform (Illumina, San Diego, CA). All variants identified have been confirmed by Sanger sequencing and,when possible,family members were tested to study the segregation of identified variants. Results NGS analysis led to the identification of 61 patients with different variants in the genes of panel 1, with a detection rate of 42%. 36% of the patients showed variants in the NLRP3 gene, 19% in NOD2, 31% in NLRP12, 23% in MEFV, 8% in MVK and TNFRSF1A, 6% in PSTPIP1. Some of these variants are novel and others are already known or polymorphisms. In 29% of patients the combination of variants in two different genes was found. Several variants are of unknown pathogenic significance,while some of them are described as risk factors. We performed 15 familial study to unravel the segregation of some variants. Conclusions NGS leads to the identification of many genetic variants that could be associated with disease susceptibility. The major challenge is in the interpretation of the clinical relevance of identified variants, particularly of variants that are found at low, but >1%, frequency in various populations. These may function as susceptibility alleles to inflammation rather than disease-associated mutations [2]. Some patients show variants in multiple analyzed genes: it can be assumed that different variants in different genes may cooperate to determine a pathological phenotype.This will necessitate large-scale population studies, in vitro functional assay and careful correlation of genetic information with phenotypic data [3]. Crucial is close collaboration with clinicians. References Martinon F, Aksentijevich I. New players driving inflammation in monogenic autoinflammatory diseases. Nat Rev Rheumatol 2015 Jan;11(1):11-20. Shinar Y, et al. Guidelines for the genetic diagnosis of hereditary recurrent fevers. Ann Rheum Dis 2012 Oct;71(10):1599-605. Aksentijevich I, Kastner D. Genetics of monogenic autoinflammatory diseases: past successes, future challenges. Nat Rev Rheumatol 2011 Jul 5;7(8):469-78. Disclosure of Interest None declared

Published
2015
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30. The role of steroid injection in joints and tendon sheaths in JIA in the biologic era

Author

Silvia Magni-Manzoni, Fabrizio De Benedetti, Denise Pires Marafon, and Virginia Messia

Subjects
musculoskeletal diseases, Steroid injection, medicine.medical_specialty, business.industry, Intraarticular Injections, Musculoskeletal ultrasound, medicine.disease, Rheumatology, Tendon, Surgery, medicine.anatomical_structure, Internal medicine, Synovitis, Pediatrics, Perinatology and Child Health, Disease remission, Poster Presentation, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business
Abstract

Intraarticular injections are commonly used in children with JIA to induce prompt relief of symptoms of active synovitis, and obtain disease remission as sole therapy or in combination with systemic treatment. In the recent years, the wider use of musculoskeletal ultrasound allowed to detect more precisely the exact site of inflammation and showed to be a safe guide for injection procedures also in tendons sheaths and periarticular tissue.

Published
2014

31. PReS-FINAL-2142: Predictors of persistent remission following etanercept (ETN) withdrawal in patients with juvenile idiopathic arthritis (JIA)

Author

S Magni Manzoni, Francesca Perfetti, Antonella Insalaco, Claudia Bracaglia, F De Benedetti, Lidia Meli, Rebecca Nicolai, Virginia Messia, M Pardeo, and F Gesualdo

Subjects
Pediatrics, medicine.medical_specialty, business.industry, Arthritis, medicine.disease, Rheumatology, Etanercept, Internal medicine, Pediatrics, Perinatology and Child Health, Poster Presentation, Medicine, Juvenile, Immunology and Allergy, In patient, Pediatrics, Perinatology, and Child Health, business, medicine.drug
Abstract

At present, no guidelines on the appropriate withdrawal of ETN in JIA patients in clinical remission exist. The identification of predictors of clinical remission off medication (CROM) in these patients represents the initial step in their development.

Published
2013

32. PReS-FINAL-2202: A novel PSMB8 mutation associated with CANDLE syndrome

Author

M Pardeo, Claudia Bracaglia, Virginia Messia, Antonella Insalaco, F De Benedetti, and Rebecca Nicolai

Subjects
medicine.medical_specialty, Pediatrics, Mutation, Anakinra, business.industry, PSMB8, Normocytic anemia, medicine.disease_cause, medicine.disease, Dermatology, Rheumatology, Internal medicine, Pediatrics, Perinatology and Child Health, Poster Presentation, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, Lipodystrophy, Panniculitis, business, Nephrotic syndrome, medicine.drug
Abstract

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly described autoinflammatory disease, which had been recently reported in 9 patients. It is characterized by onset during the first year of life of recurrent fevers, purpuric skin lesions, arthralgia, progressive lipodystrophy, hypochromic or normocytic anemia, delayed physical development and increased levels of acute phase reactants.

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33. Inflammatory Cytokine response in a cohort of patients carrying novel NLRP12 variants

Author

Giusi Prencipe, Elisa Pisaneschi, Antonella Insalaco, Luigi Raganelli, F De Benedetti, Ivan Caiello, Francesca Romana Lepri, and Virginia Messia

Subjects
medicine.medical_specialty, business.industry, Autosomal dominant trait, Bioinformatics, Rheumatology, Cytokine response, Internal medicine, Pediatrics, Perinatology and Child Health, Cohort, medicine, Oral Presentation, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, business, Gene
Abstract

The NLRP12 related autoinflammatory disorder (NLRP12-RD) is a rare autosomal dominant disease, caused by mutations in the NLRP12 gene, a member of NLRs family involved in negative regulation of NF-kB pro-inflammatory pathways. At present, few cases have been reported, although novel NLRP12 variants have recently been described.

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34. Involvement of the IFN-gamma pathway in a patient with candle syndrome carrying a novel variant of PSMB8 gene

Author

Claudia Bracaglia, Giusi Prencipe, Cristina de Min, Virginia Messia, Fabrizio De Benedetti, Rebecca Nicolai, Manuela Pardeo, Ivan Caiello, Andrea Masotti, and Antonella Insalaco

Subjects
Pediatrics, medicine.medical_specialty, IFN-gamma pathway, business.industry, PSMB8 gene, medicine.disease, Rheumatology, Neutrophilic dermatosis, Internal medicine, Poster Presentation, Pediatrics, Perinatology and Child Health, Immunology, medicine, Immunology and Allergy, Autoinflammatory disease, Pediatrics, Perinatology, and Child Health, Lipodystrophy, business
Abstract

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly described autoinflammatory disease.

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35. Cronic non-bacterial osteomyelitis (CNO) in a cohort of pediatric patients: clinical, biological and radiological response to treatment with Anakinra

Author

F De Benedetti, Rebecca Nicolai, Antonella Insalaco, M Pardeo, D Pires Marafon, Claudia Bracaglia, and Virginia Messia

Subjects
medicine.medical_specialty, Anakinra, Pediatrics, Necrosis, medicine.diagnostic_test, business.industry, Osteomyelitis, medicine.disease, Gastroenterology, Response to treatment, Rheumatology, Bone scintigraphy, Internal medicine, Radiological weapon, Poster Presentation, Pediatrics, Perinatology and Child Health, Cohort, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, medicine.symptom, business, medicine.drug
Abstract

Chronic nonbacterial osteomyelitis (CNO) is the most common autoinflammatory bone disorder in childhood (1). Diagnostic information is provided by TC-99 bone scintigraphy (BS) and/or whole body MRI. Non-steroidal anti-inflammatory drugs (NSAIDs), glucocorticoids, bisphosphonates and tumour necrosis factor inhibitors have been used until now with variable response (2).

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36. Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs)

Author

Antonella Insalaco, Elisa Pisaneschi, D. Minervino, F De Benedetti, M Pardeo, Virginia Messia, and Francesca Romana Lepri

Subjects
business.industry, Bioinformatics, medicine.disease, Single Center, DNA sequencing, Acquired immunodeficiency syndrome (AIDS), Rheumatology, Poster Presentation, Pediatrics, Perinatology and Child Health, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, Genetic diagnosis, business, Autoinflammatory Disorders
Abstract

Autoinflammatory disorders (AIDs) represent an expanding group of complex diseases characterized by periodic or chronic systemic inflammations. Mutations in more than 15 geneshave been associated with autoinflammatory recessive or dominant syndromes. Next Generation Sequencing (NGS) has emerged in the last year as new diagnostic tool in this field.

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37. PReS-FINAL-2200: Phenotype of V198M and Q703K NLRP3 variants

Author

Antonella Insalaco, Claudia Bracaglia, Virginia Messia, F De Benedetti, Rebecca Nicolai, and M Pardeo

Subjects
Cerebral atrophy, medicine.medical_specialty, Pediatrics, business.industry, Aseptic meningitis, CINCA Syndrome, medicine.disease, Phenotype, Rash, Dermatology, Rheumatology, Familial Cold Autoinflammatory Syndrome, Recurrent fever, Internal medicine, Poster Presentation, Pediatrics, Perinatology and Child Health, Medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, medicine.symptom, business
Abstract

The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases. The term CAPS (Cryopyrin-Associated Periodic Syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases.

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38. P02-031 - Phenotype of V198M and Q703K NLRP3 variants

Author

M Pardeo, F De Benedetti, Virginia Messia, Claudia Bracaglia, Rebecca Nicolai, and Antonella Insalaco

Subjects
Cerebral atrophy, medicine.medical_specialty, Pathology, business.industry, Aseptic meningitis, CINCA Syndrome, medicine.disease, Rash, Dermatology, Phenotype, Rheumatology, Familial Cold Autoinflammatory Syndrome, Recurrent fever, Internal medicine, Pediatrics, Perinatology and Child Health, Meeting Abstract, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, medicine.symptom, business
Abstract

The term CAPS (cryopyrin-associated periodic syndromes) identifies a spectrum of autoinflammatory diseases caused by heterozygous mutations of the CIAS1/NLRP3. Affected individuals may present three different phenotypes: familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS) and CINCA syndrome, the most severe form of the clinical spectrum. Clinical manifestations include urticaria-like rash, recurrent fever, arthralgia, conjunctivitis; chronic aseptic meningitis, cerebral atrophy and bone malformations in the severe cases.

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39. P02-016 - A novel PSMB8 mutation causing candle syndrome

Author

F De Benedetti, Rebecca Nicolai, Claudia Bracaglia, Antonella Insalaco, M Pardeo, and Virginia Messia

Subjects
Physical development, medicine.medical_specialty, Mutation, Pediatrics, business.industry, PSMB8, Normocytic anemia, medicine.disease, medicine.disease_cause, Dermatology, Rheumatology, Neutrophilic dermatosis, Recurrent fever, Internal medicine, Meeting Abstract, Pediatrics, Perinatology and Child Health, medicine, Immunology and Allergy, Pediatrics, Perinatology, and Child Health, Lipodystrophy, business
Abstract

Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is a newly described autoinflammatory disease, which had been recently reported in 9 patients. It is characterized by onset during the first year of life of recurrent fevers, purpuric skin lesions, arthralgia, progressive lipodystrophy, hypochromic or normocytic anemia, delayed physical development and increased levels of acute phase reactants.

Full Text
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