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1. Outcomes of MIS-C patients treated with anakinra: a retrospective multicenter national study

Author

Francesco Licciardi, Carlotta Covizzi, Marta Dellepiane, Nicole Olivini, Maria Vincenza Mastrolia, Andrea Lo Vecchio, Viviana Monno, Maria Tardi, Angela Mauro, Maria Alessio, Giovanni Filocamo, Marco Cattalini, Andrea Taddio, Roberta Caorsi, Gian Luigi Marseglia, Francesco La Torre, Andrea Campana, Gabriele Simonini, Angelo Ravelli, and Davide Montin

Subjects
MIS-C, multisystem inflammatory syndrome, pediatrics, COVID-19, SARS-CoV2, Pediatrics, RJ1-570
Abstract

BackgroundThe treatment of multisystem inflammatory syndrome in children unresponsive to first-line therapies (IVIG and/or steroids) is challenging. The effectiveness of IL-1 receptor antagonist, anakinra, is debated.Patients and methodsWe conducted an anonymous retrospective multicenter study on MIS-C patients treated with anakinra in Italy from January 2020 to February 2021. Our study outcomes included the percentage of patients who required further therapeutic step-up, the percentage of patients who experienced fever resolution within 24 h and a reduction of CRP by half within 48 h, and the percentage of patients who developed Coronary Artery Anomalies (CAA) during follow-up.Results35 cases of MIS-C were treated in 10 hospitals. Of these, 13 patients started anakinra while in the ICU, and 22 patients started anakinra in other wards. 25 patients (71.4%) were treated with corticosteroids at a starting dose 2–30 mg/Kg/day plus IVIG (2 g/Kg), 10 patients (28.6%) received only corticosteroids without IVIG. Anakinra was administered intravenously to all patients in Group A (mean dose 8 mg/Kg/day), and subcutaneously in Group B (mean dose 4 mg/Kg/day). Only two patients required further treatment step-up and no patients developed CAA after receiving anakinra. The most commonly observed side effect was an increase in ALT, occurring in 17.1% of patients.ConclusionsIn this retrospective cohort of severe MIS-C patients treated with anakinra we report favorable clinical outcomes with a low incidence of side effects. The simultaneous use of steroids ± IVIG in these patients hinders definitive conclusions regarding the need of IL-1 inhibition in MIS-C treatment.

Published
2023
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2. In a large Juvenile Idiopathic Arthritis (JIA) cohort, concomitant celiac disease is associated with family history of autoimmunity and a more severe JIA course: a retrospective study

Author

Roberta Naddei, Simona Di Gennaro, Alfredo Guarino, Riccardo Troncone, Maria Alessio, and Valentina Discepolo

Subjects
Celiac disease, Juvenile idiopathic arthritis, Autoimmunity, Children, Anti-tissue transglutaminase antibodies, Screening, Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Abstract

Abstract Background A higher prevalence of celiac disease (CD) has been reported in patients with juvenile idiopathic arthritis (JIA) compared to the general population. Factors related to the increased risk of co-occurrence and associated disease course have not been fully elucidated. Aims of this study were to determine the prevalence of CD in a large Southern Italian cohort of children with JIA, describe their clinical features and disease course and investigate risk factors associated with their co-occurrence. Findings Demographic, clinical and laboratory data of all patients with JIA admitted to our Pediatric Rheumatology Unit from January 2001 to June 2019, who underwent CD screening, were retrospectively extracted from clinical charts and analyzed. Eight of 329 JIA patients were diagnosed with CD, resulting in a prevalence higher than the general Italian population (2.4% vs 0.93%, p

Published
2022
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3. Advances in the Diagnosis and Treatment of Enthesitis-Related Arthritis

Author

Simona Di Gennaro, Gennaro Di Matteo, Gianmarco Stornaiuolo, Federica Anselmi, Teresa Lastella, Francesca Orlando, Maria Alessio, and Roberta Naddei

Subjects
enthesitis-related arthritis, juvenile idiopathic arthritis, childhood arthritis, pediatric rheumatology, sacroiliitis, juvenile spondyloarthritis, Pediatrics, RJ1-570
Abstract

Enthesitis-related arthritis (ERA) represents 5–30% of all cases of juvenile idiopathic arthritis (JIA) and belongs to the spectrum of the disorders included in the group of juvenile spondyloarthritis. In the last decade, there have been considerable advances in the classification, diagnosis, monitoring, and treatment of ERA. New provisional criteria for ERA have been recently proposed by the Paediatric Rheumatology INternational Trials Organisation, as part of a wider revision of the International League of Associations for Rheumatology criteria for JIA. The increased use of magnetic resonance imaging has shown that a high proportion of patients with ERA present a subclinical axial disease. Diverse instruments can be used to assess the disease activity of ERA. The therapeutic recommendations for ERA are comparable to those applied to other non-systemic JIA categories, unless axial disease and/or enthesitis are present. In such cases, the early use of a TNF-alpha inhibitor is recommended. Novel treatment agents are promising, including IL-17/IL-23 or JAK/STAT pathways blockers.

Published
2023
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4. The Autoinflammatory Diseases Alliance Registry of monogenic autoinflammatory diseases

Author

Carla Gaggiano, Antonio Vitale, Abdurrahman Tufan, Gaafar Ragab, Emma Aragona, Ewa Wiesik-Szewczyk, Djouher Ait-Idir, Giovanni Conti, Ludovica Iezzi, Maria Cristina Maggio, Marco Cattalini, Francesco La Torre, Giuseppe Lopalco, Elena Verrecchia, Amato de Paulis, Ali Sahin, Antonella Insalaco, Petros P. Sfikakis, Achille Marino, Micol Frassi, Benson Ogunjimi, Daniela Opris-Belinski, Paola Parronchi, Giacomo Emmi, Farhad Shahram, Francesco Ciccia, Matteo Piga, José Hernández-Rodríguez, Rosa Maria R. Pereira, Maria Alessio, Roberta Naddei, Alma Nunzia Olivieri, Emanuela Del Giudice, Paolo Sfriso, Piero Ruscitti, Francesca Li Gobbi, Hamit Kucuk, Jurgen Sota, Mohamed A. Hussein, Giuseppe Malizia, Karina Jahnz-Różyk, Rawda Sari-Hamidou, Mery Romeo, Francesca Ricci, Fabio Cardinale, Florenzo Iannone, Francesca Della Casa, Marco Francesco Natale, Katerina Laskari, Teresa Giani, Franco Franceschini, Vito Sabato, Derya Yildirim, Valeria Caggiano, Mohamed Tharwat Hegazy, Rosalba Di Marzo, Aleksandra Kucharczyk, Ghalia Khellaf, Maria Tarsia, Ibrahim A. Almaghlouth, Ahmed Hatem Laymouna, Violetta Mastrorilli, Laura Dotta, Luca Benacquista, Salvatore Grosso, Francesca Crisafulli, Veronica Parretti, Heitor F. Giordano, Ayman Abdel-Monem Ahmed Mahmoud, Rossana Nuzzolese, Marta De Musso, Cecilia Beatrice Chighizola, Stefano Gentileschi, Mirella Morrone, Ilenia Di Cola, Veronica Spedicato, Henrique A. Mayrink Giardini, Ibrahim Vasi, Alessandra Renieri, Alessandra Fabbiani, Maria Antonietta Mencarelli, Bruno Frediani, Alberto Balistreri, Gian Marco Tosi, Claudia Fabiani, Merav Lidar, Donato Rigante, and Luca Cantarini

Subjects
autoinflammatory diseases, international registry, personalized medicine, precision medicine, rare diseases, Medicine (General), R5-920
Abstract

ObjectiveThe present manuscript aims to describe an international, electronic-based, user-friendly and interoperable patient registry for monogenic autoinflammatory diseases (mAIDs), developed in the contest of the Autoinflammatory Diseases Alliance (AIDA) Network.MethodsThis is an electronic platform, based on the Research Electronic Data Capture (REDCap) tool, used for real-world data collection of demographics, clinical, laboratory, instrumental and socioeconomic data of mAIDs patients. The instrument has flexibility, may change over time based on new scientific acquisitions, and communicate potentially with other similar registries; security, data quality and data governance are corner stones of the platform.ResultsAIDA project will share knowledge and expertise on mAIDs. Since its start, 118 centers from 24 countries and 4 continents have joined the AIDA project. Fifty-nine centers have already obtained the approval from their local Ethics Committees. Currently, the platform counts 337 users (122 Principal Investigators, 210 Site Investigators, 2 Lead Investigators, and 3 data managers). The Registry collects baseline and follow-up data using 3,748 fields organized into 21 instruments, which include demographics, patient history, symptoms, trigger/risk factors, therapies, and healthcare information for mAIDs patients.ConclusionsThe AIDA mAIDs Registry, acts both as a research tool for future collaborative real-life studies on mAIDs and as a service to connect all the figures called to participate. On this basis, the registry is expected to play a pivotal role in generating new scientific evidence on this group of rare diseases, substantially improving the management of patients, and optimizing the impact on the healthcare system. NCT 05200715 available at https://clinicaltrials.gov.

Published
2022
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5. Development and implementation of the AIDA International Registry for patients with Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis syndrome

Author

Francesca Della Casa, Antonio Vitale, Marco Cattalini, Francesco La Torre, Giovanna Capozio, Emanuela Del Giudice, Maria Cristina Maggio, Giovanni Conti, Maria Alessio, Benson Ogunjimi, Gaafar Ragab, Giacomo Emmi, Emma Aragona, Teresa Giani, Giuseppe Lopalco, Paola Parronchi, Farhad Shahram, Elena Verrecchia, Francesca Ricci, Fabio Cardinale, Silvia Di Noi, Rossana Nuzzolese, Riccardo Lubrano, Serena Patroniti, Roberta Naddei, Vito Sabato, Mohamed A. Hussein, Laura Dotta, Violetta Mastrorilli, Stefano Gentileschi, Abdurrahman Tufan, Valeria Caggiano, Mohamed Tharwat Hegazy, Jurgen Sota, Ibrahim A. Almaghlouth, Amr Ibrahim, Ewa Wiȩsik-Szewczyk, Burcugul Ozkiziltas, Salvatore Grosso, Micol Frassi, Maria Tarsia, Rosa Maria R. Pereira, Maged Taymour, Carla Gaggiano, Sergio Colella, Claudia Fabiani, Maria Morrone, Piero Ruscitti, Bruno Frediani, Veronica Spedicato, Henrique A. Mayrink Giardini, Alberto Balistreri, Donato Rigante, and Luca Cantarini

Subjects
autoinflammatory diseases, international registry, personalized medicine, PFAPA syndrome, precision medicine, rare disease, Pediatrics, RJ1-570
Abstract

ObjectiveAim of this paper is to illustrate the methodology, design, and development of the AutoInflammatory Disease Alliance (AIDA) International Registry dedicated to patients with the Periodic Fever, Aphthous stomatitis, Pharyngitis, and cervical Adenitis (PFAPA) syndrome.MethodsThis is a physician-driven, non-population- and electronic-based registry proposed to gather real-world demographics, clinical, laboratory, instrumental and socioeconomic data from PFAPA patients. Data recruitment is realized through the on-line Research Electronic Data Capture (REDCap) tool. This registry is thought to collect standardized information for clinical research leading to solid real-life evidence. The international scope and the flexibility of the registry will facilitate the realization of cutting-edge study projects through the constant updating of variables and the possible merging and transfer of data between current and future PFAPA registries.ResultsA total of 112 centers have already been involved from 23 countries and 4 continents starting from August 24th, 2021, to April 6th, 2022. In total 56/112 have already obtained the formal approval from their local Ethics Committees. The platform counts 321 users (113 principal investigators, 203 site investigators, two lead investigators, and three data managers). The registry collects retrospective and prospective data using 3,856 fields organized into 25 instruments, including PFAPA patient's demographics, medical histories, symptoms, triggers/risk factors, therapies, and impact on the healthcare systems.ConclusionsThe development of the AIDA International Registry for PFAPA patients will enable the on-line collection of standardized data prompting real-life studies through the connection of worldwide groups of physicians and researchers. This project can be found on https://clinicaltrials.gov NCT 05200715.

Published
2022
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6. Development and Implementation of the AIDA International Registry for Patients With VEXAS Syndrome

Author

Antonio Vitale, Valeria Caggiano, Francesca Della Casa, José Hernández-Rodríguez, Micol Frassi, Sara Monti, Abdurrahman Tufan, Salvatore Telesca, Edoardo Conticini, Gaafar Ragab, Giuseppe Lopalco, Ibrahim Almaghlouth, Rosa Maria R. Pereira, Derya Yildirim, Marco Cattalini, Achille Marino, Teresa Giani, Francesco La Torre, Piero Ruscitti, Emma Aragona, Ewa Wiesik-Szewczyk, Emanuela Del Giudice, Petros P. Sfikakis, Marcello Govoni, Giacomo Emmi, Maria Cristina Maggio, Roberto Giacomelli, Francesco Ciccia, Giovanni Conti, Djouher Ait-Idir, Claudia Lomater, Vito Sabato, Matteo Piga, Ali Sahin, Daniela Opris-Belinski, Ruxandra Ionescu, Elena Bartoloni, Franco Franceschini, Paola Parronchi, Amato de Paulis, Gerard Espinosa, Armin Maier, Gian Domenico Sebastiani, Antonella Insalaco, Farhad Shahram, Paolo Sfriso, Francesca Minoia, Maria Alessio, Joanna Makowska, Gülen Hatemi, Nurullah Akkoç, Francesca Li Gobbi, Antonio Gidaro, Alma Nunzia Olivieri, Sulaiman M. Al-Mayouf, Sükran Erten, Stefano Gentileschi, Ibrahim Vasi, Maria Tarsia, Ayman Abdel-Monem Ahmed Mahmoud, Bruno Frediani, Musa Fares Alzahrani, Ahmed Hatem Laymouna, Francesca Ricci, Fabio Cardinale, Karina Jahnz-Rózyk, Gian Marco Tosi, Francesca Crisafulli, Alberto Balistreri, Marília A. Dagostin, Mahmoud Ghanema, Carla Gaggiano, Jurgen Sota, Ilenia Di Cola, Claudia Fabiani, Henrique A. Mayrink Giardini, Alessandra Renieri, Alessandra Fabbiani, Anna Carrer, Monica Bocchia, Federico Caroni, Donato Rigante, and Luca Cantarini

Subjects
autoinflammatory diseases, clinical management, precision medicine, rare diseases, research, treatment, Medicine (General), R5-920
Abstract

ObjectiveThe aim of this paper is to present the AutoInflammatory Disease Alliance (AIDA) international Registry dedicated to Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic (VEXAS) syndrome, describing its design, construction, and modalities of dissemination.MethodsThis Registry is a clinical, physician-driven, population- and electronic-based instrument designed for the retrospective and prospective collection of real-life data. Data gathering is based on the Research Electronic Data Capture (REDCap) tool and is intended to obtain real-world evidence for daily patients' management. The Registry may potentially communicate with other on-line tools dedicated to VEXAS syndrome, thus enhancing international collaboration and data sharing for research purposes. The Registry is practical enough to be easily modified to meet future needs regarding VEXAS syndrome.ResultsTo date (April 22nd, 2022), 113 Centers from 23 Countries in 4 continents have been involved; 324 users (114 Principal Investigators, 205 Site Investigators, 2 Lead Investigators, and 3 data managers) are currently able to access the registry for data entry (or data sharing) and collection. The Registry includes 4,952 fields organized into 18 instruments designed to fully describe patient's details about demographics, clinical manifestations, symptoms, histologic details about skin and bone marrow biopsies and aspirate, laboratory features, complications, comorbidities, therapies, and healthcare access.ConclusionThis international Registry for patients with VEXAS syndrome will allow the achievement of a comprehensive knowledge about this new disease, with the final goal to obtain real-world evidence for daily clinical practice, especially in relation to the comprehension of this disease about the natural history and the possible therapeutic approaches. This Project can be found on https://clinicaltrials.gov NCT05200715.

Published
2022
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8. Acute pain management in children: a survey of Italian pediatricians

Author

Gian Luigi Marseglia, Maria Alessio, Liviana Da Dalt, Maria Giuliano, Angelo Ravelli, and Paola Marchisio

Subjects
Acetaminophen, Algometric scale, Ibuprofen, Italy, Pain, Pediatrics, RJ1-570
Abstract

Abstract Background Current guidelines recommend assessing and relieving pain in all children and in all instances; yet, in clinical practice, management is frequently suboptimal. We investigated the attitude of Italian family pediatricians towards the evaluation and treatment of different types of acute pain in children aged 7–12 years. Methods This is a cross-sectional study based on a 17-question survey accessible online from October 2017 to October 2018. Responders had to describe cases of children suffering from any type of acute pain among headache, sore throat, musculoskeletal/post-traumatic pain, and earache. Children’s characteristics, pain assessment modalities and therapeutic approaches were queried. The following tests were used: Z-proportion to evaluate the distribution of categorical data; chi-squared and Kruskall-Wallis to explore data heterogeneity across groups; Mann-Whitney for head-to-head comparisons. Results Overall, 929 pediatricians presented 6335 cases uniformly distributed across the types examined. Pain was more frequently of moderate intensity (42.2%, P

Published
2019
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10. The experience of living with a chronic disease in pediatrics from the mothers’ narratives: The Clinical Interview on Parental Sense of Grip on the Disease

Author

Livia Savarese, Maria Francesca Freda, Raffaele De Luca Picione, Pasquale Dolce, Raffaella De Falco, Maria Alessio, Mauro Cancian, Adriana Franzese, Maria Domenica Guarino, Roberto Perricone, Angelica Petraroli, Riccardo Senter, Claudia Traverso, Andrea Zanichelli, Eugenio Zito, and Maria Bova

Subjects
Psychology, BF1-990
Abstract

The Clinical Interview on the Sense of Grip on Chronic Disease has been administered to 68 mothers of children affected by Hereditary Angioedema (C1-Inh HAE), Type 1 Diabetes (T1D), Juvenile Rheumatoid Arthritis (JRA). The objectives are to detect general features of the experience of parenting children with chronic illness as well as the specificities of this experience related to the different conditions. Four Profiles of Sense of Grip were identified: Adempitive, Controlling, Reactive, Dynamic. The Sense of Grip Interview is an effective clinical tool for understanding the characteristics of the disease in daily life, which can help clinicians to encourage family adjustment to disease.

Published
2020
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11. Emotional processes and stress in children affected by hereditary angioedema with C1-inhibitor deficiency: a multicenter, prospective study

Author

Livia Savarese, Maria Bova, Raffaella De Falco, Maria Domenica Guarino, Raffaele De Luca Picione, Angelica Petraroli, Riccardo Senter, Claudia Traverso, Matteo Zabotto, Andrea Zanichelli, Eugenio Zito, Maria Alessio, Mauro Cancian, Marco Cicardi, Adriana Franzese, Roberto Perricone, Gianni Marone, Paolo Valerio, and Maria Francesca Freda

Subjects
Alexithymia, C1-inhibitor deficiency, Children, Hereditary angioedema, Psychological factor, Stress, Medicine
Abstract

Abstract Background Hereditary angioedema with C1-inhibitor deficiency (C1-INH-HAE) is characterized by recurrent edema of unpredictable frequency and severity. Stress, anxiety, and low mood are among the triggering factors most frequently reported. Impaired regulation and processing of emotions, also known as alexithymia, may influence outcomes. The aim of this study was to confirm the presence of alexithymia and stress in children with C1-INH-HAE, to determine whether they are also present in children affected by other chronic diseases, and to investigate their relationship with C1-INH-HAE severity. Data from children with C1-INH-HAE (n = 28) from four reference centers in Italy were compared with data from children with type 1 diabetes (T1D; n = 23) and rheumatoid arthritis (RA; n = 25). Alexithymia was assessed using the Alexithymia Questionnaire for Children scale; perceived stress was assessed using the Coddington Life Event Scale for Children (CLES-C). Results Mean age (standard deviation [SD]) in the C1-INH-HAE, T1D, and RA groups was 11.8 (3.3), 11.7 (2.9), and 11.1 (2.6) years, respectively. Mean C1-INH-HAE severity score was 5.9 (2.1), indicating moderate disease. Alexithymia scores were similar among disease groups and suggestive of difficulties in identifying and describing emotions; CLES-C scores tended to be worse in C1-INH-HAE children. C1-INH-HAE severity was found to correlate significantly and positively with alexithymia (p = 0.046), but not with perceived stress. Alexithymia correlated positively with perceived stress. Conclusions Alexithymia is common in children with chronic diseases. In C1-INH-HAE, it may result in increased perceived stress and act as a trigger of edema attacks. Comprehensive management of C1-INH-HAE children should consider psychological factors.

Published
2018
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12. 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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13. Anakinra Drug Retention Rate and Predictive Factors of Long-Term Response in Systemic Juvenile Idiopathic Arthritis and Adult Onset Still Disease

Author

Jurgen Sota, Donato Rigante, Piero Ruscitti, Antonella Insalaco, Paolo Sfriso, Salvatore de Vita, Rolando Cimaz, Giuseppe Lopalco, Giacomo Emmi, Francesco La Torre, Claudia Fabiani, Alma Nunzia Olivieri, Marco Cattalini, Daniele Cammelli, Romina Gallizzi, Maria Alessio, Raffaele Manna, Ombretta Viapiana, Micol Frassi, Manuela Pardeo, Armin Maier, Carlo Salvarani, Rosaria Talarico, Marta Mosca, Serena Colafrancesco, Roberta Priori, Maria Cristina Maggio, Carla Gaggiano, Salvatore Grosso, Fabrizio De Benedetti, Antonio Vitale, Roberto Giacomelli, and Luca Cantarini

Subjects
anakinra, interleukin 1-beta, innovative biotechnologies, drug retention rate, systemic juvenile idiopathic arthritis, adult onset Still disease, Therapeutics. Pharmacology, RM1-950
Abstract

Background and Objective: Only a few studies have reported long-term efficacy of interleukin (IL)-1 inhibition in systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still disease (AOSD). Herein we report on the effectiveness of anakinra (ANA), expressed in terms of drug retention rate (DRR), and evaluate the predictive factors of drug survival in a cohort of patients with sJIA and AOSD.Patients and Methods: This is a multicenter study reviewing retrospectively the medical records from 61 patients with sJIA and 76 with AOSD, all treated with ANA in 25 Italian tertiary referral centers.Results: The cumulative retention rate of ANA at 12-, 24-, 48-, and 60-month of follow-up was 74.3%, 62.9%, 49.4%, and 49.4%, respectively, without any significant differences between sJIA and AOSD patients (p = 0.164), and between patients treated in monotherapy compared with the subgroup coadministered with conventional disease-modifying antirheumatic drugs (cDMARDs) (p = 0.473). On the other hand, a significant difference in DRR was found between biologic-naïve patients and those previously treated with biotechnologic drugs (p = 0.009), which persisted even after adjustment for pathology (p = 0.013). In the regression analysis, patients experiencing adverse events (AEs) {hazards ratio (HR) = 3.029 [confidence interval (CI) 1.750–5.242], p < 0.0001} and those previously treated with other biologic agents [HR = 1.818 (CI 1.007–3.282), p = 0.047] were associated with a higher HR of ANA discontinuation. The median treatment delay was significantly higher among patients discontinuing ANA (p < 0.0001). Significant corticosteroid-sparing (p = 0.033) and cDMARD-sparing effects (p < 0.0001) were also recorded. Less than one-third of our cohort developed AEs, and 85% were deemed mild in nature, with 70% of them involving the skin.Conclusions: Our findings display an overall excellent DRR of ANA on the long run for both sJIA and AOSD, that may be further optimized by closely monitoring patient’s safety issues and employing this IL-1 inhibitor as a first-line biologic as early as possible. Moreover, ANA allowed a significant drug-sparing effect and showed an overall good safety profile.

Published
2019
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14. Drug Retention Rate and Predictive Factors of Drug Survival for Interleukin-1 Inhibitors in Systemic Juvenile Idiopathic Arthritis

Author

Jurgen Sota, Antonella Insalaco, Rolando Cimaz, Maria Alessio, Marco Cattalini, Romina Gallizzi, Maria Cristina Maggio, Giuseppe Lopalco, Francesco La Torre, Claudia Fabiani, Manuela Pardeo, Alma Nunzia Olivieri, Paolo Sfriso, Carlo Salvarani, Carla Gaggiano, Salvatore Grosso, Claudia Bracaglia, Fabrizio De Benedetti, Donato Rigante, and Luca Cantarini

Subjects
systemic juvenile idiopathic arthritis, interleukin 1-beta, therapy, anakinra, canakinumab, drug retention rate, Therapeutics. Pharmacology, RM1-950
Abstract

Background and Objectives: Few studies have reported the drug retention rate (DRR) of biologic drugs in juvenile idiopathic arthritis (JIA), and none of them has specifically investigated the DRR of interleukin (IL)-1 inhibitors on systemic JIA (sJIA). This study aims to describe IL-1 inhibitors DRR and evaluate predictive factors of drug survival based on data from a real-world setting concerning sJIA.Methods: Medical records from sJIA patients treated with anakinra (ANA) and canakinumab (CAN) were retrospectively analyzed from 15 Italian tertiary referral centers.Results: Seventy seven patients were enrolled for a total of 86 treatment courses. The cumulative retention rate of the IL-1 inhibitors at 12-, 24-, 48-, and 60-months of follow-up was 79.9, 59.5, 53.5, and 53.5%, respectively, without any statistically significant differences between ANA and CAN (p = 0.056), and between patients treated in monotherapy compared to the subgroup co-administered with conventional immunosuppressors (p = 0.058). On the contrary, significant differences were found between biologic-naive patients and those previously treated with biologic drugs (p = 0.038) and when distinguishing according to adverse events (AEs) occurrence (p = 0.04). In regression analysis, patients pre-treated with other biologics (HR = 3.357 [CI: 1.341–8.406], p = 0.01) and those experiencing AEs (HR = 2.970 [CI: 1.186–7.435], p = 0.020) were associated with a higher hazard ratio of IL-1 inhibitors withdrawal. The mean treatment delay was significantly higher among patients discontinuing IL-1 inhibitors (p = 0.0002).Conclusions: Our findings suggest an excellent overall DRR for both ANA and CAN that might be further augmented by paying attention to AEs and employing these agents as first-line biologics in an early disease phase.

Published
2019
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16. A snapshot on the on-label and off-label use of the interleukin-1 inhibitors in Italy among rheumatologists and pediatric rheumatologists: a nationwide multi-center retrospective observational study

Author

Antonio Vitale, Antonella Insalaco, Paolo Sfriso, Giuseppe Lopalco, Giacomo Emmi, Marco Cattalini, Raffaele Manna, Rolando Cimaz, Roberta Priori, Rosaria Talarico, Stefano Gentileschi, Ginevra de Marchi, Micol Frassi, Romina Gallizzi, Alessandra Soriano, Maria Alessio, Daniele Cammelli, Maria Cristina Maggio, Renzo Marcolongo, Francesco La Torre, Claudia Fabiani, Serena Colafrancesco, Francesca Ricci, Paola Galozzi, Ombretta Viapiana, Elena Verrecchia, Manuela Pardeo, Lucia Cerrito, Elena Cavallaro, Alma Nunzia Olivieri, Giuseppe Paolazzi, Gianfranco Vitiello, Armin Maier, Elena Silvestri, Chiara Stagnaro, Guido Valesini, Marta Mosca, Salvatore de Vita, Angela Tincani, Giovanni Lapadula, Bruno Frediani, Fabrizio De Benedetti, Florenzo Iannone, Leonardo Punzi, Carlo Salvarani, Mauro Galeazzi, Donato Rigante, and Luca Cantarini

Subjects
Treatment, anakinra, Canakinumab, Autoinflammatory disorders, interleukin (IL)-1, Therapeutics. Pharmacology, RM1-950
Abstract

Background: interleukin (IL)-1 inhibitors have been suggested as possible therapeutic options in a large number of old and new clinical entities characterized by an IL-1 driven pathogenesis. Objectives: to perform a nationwide snapshot of the on-label and off-label use of anakinra (ANA) and canakinumab (CAN) for different conditions both in children and adults.Methods: we retrospectively collected demographic, clinical, and therapeutic data from both adult and pediatric patients treated with IL-1 inhibitors from January 2008 to July 2016.Results: 526 treatment courses given to 475 patients (195 males, 280 females; 111 children and 364 adults) were evaluated. ANA was administered in 421 (80.04%) courses, CAN in 105 (19.96%). Sixty-two (32.1%) patients were treated with both agents. IL-1 inhibitors were employed in 38 different indications (37 with ANA, 16 with CAN). Off-label use was more frequent for ANA than CAN (p

Published
2016
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17. Role of IL-1 beta in the development of human T(H)17 cells: lesson from NLPR3 mutated patients.

Author

Denise Lasigliè, Elisabetta Traggiai, Silvia Federici, Maria Alessio, Antonella Buoncompagni, Andrea Accogli, Sabrina Chiesa, Federica Penco, Alberto Martini, and Marco Gattorno

Subjects
Medicine, Science
Abstract

T helper 17 cells (T(H)-17) represent a lineage of effector T cells critical in host defence and autoimmunity. In both mouse and human IL-1β has been indicated as a key cytokine for the commitment to T(H)-17 cells. Cryopyrin-associated periodic syndromes (CAPS) are a group of inflammatory diseases associated with mutations of the NLRP3 gene encoding the inflammasome component cryopyrin. In this work we asked whether the deregulated secretion of IL-1β secondary to mutations characterizing these patients could affect the IL-23/IL-17 axis.A total of 11 CAPS, 26 systemic onset juvenile idiopathic arthritis (SoJIA) patients and 20 healthy controls were analyzed. Serum levels of IL-17 and IL-6 serum were assessed by ELISA assay. Frequency of T(H)17 cells was quantified upon staphylococcus enterotoxin B (SEB) stimulation. Secretion of IL-1β, IL-23 and IL-6 by monocyte derived dendritic cells (MoDCs), were quantified by ELISA assay. A total of 8 CAPS and 11 SoJIA patients were also analysed before and after treatment with IL-1β blockade. Untreated CAPS patients showed significantly increased IL-17 serum levels as well as a higher frequency of T(H)17 compared to control subjects. On the contrary, SoJIA patients displayed a frequency of T(H)17 similar to normal donors, but were found to have significantly increased serum level of IL-6 when compared to CAPS patients or healthy donors. Remarkably, decreased IL-17 serum levels and T(H)17 frequency were observed in CAPS patients following in vivo IL-1β blockade. On the same line, MoDCs from CAPS patients exhibited enhanced secretion of IL-1β and IL-23 upon TLRs stimulation, with a reduction after anti-IL-1 treatment.These findings further support the central role of IL-1β in the differentiation of T(H)17 in human inflammatory conditions.

Published
2011
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18. Evaluation of a scheme to identify risks for tail biting in pigs.

Author

Roberta Maria D'Alessio, Conor G Mc Aloon, Carla Correia-Gomes, Alison Hanlon, and Keelin O'Driscoll

Subjects
Medicine, Science
Abstract

The study aimed to assess the effectiveness of a tail-biting risk assessment scheme. The scheme consisted of trained private veterinary practitioners (assessors) applying a risk assessment tool on commercial pig farms to six pens per farm. The assessment tool included animal and non-animal-based observations which were used to determine the perceived risk of tail biting for each pen. For this study 27 farms were assessed, and a subsequent batch of pigs from each farm underwent post-mortem tail lesion scoring at the abattoir. The assessments revealed that a high percentage of pens had fully slatted flooring (92%) and mixed-sex populations (84%), with a significant proportion of pens containing pigs which were all tail docked (92%). Most pens (86%) did not allow all pigs simultaneous access to feeders. Enrichment was present in 88% of the pens, but most (46%) were supplied with only one item, and only 15% offering multiple enrichment types. The study found no significant associations between the risk of tail biting and visible injuries, dirty flanks, or tucked tails, as assessed by the assessors (P > 0.05). Similarly, the risk of tail biting reported per pen was not associated with aggressive, damaging, or exploratory behaviours (P > 0.05). At the abattoir, 96% of pigs' tails exhibited minor skin damage, with only 4% showing moderate to severe damage. Furthermore, no links were found between the scores obtained during slaughter and the risk of tail biting, as reported by the assessors (P < 0.05). Although the tool was useful in identifying several improvements that could be made at farm level in areas such as stocking density, enrichment provision and reducing tail docking, overall the results underscored the need for improved training of assessors, and the challenge of associating management practices and animal based measures with tail-biting risk.

Published
2024
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21. Financial Toxicity in Renal Patients (FINTORE) Study: A Cross-Sectional Italian Study on Financial Burden in Kidney Disease—A Project Protocol

Author

Siligato, Rossella, primary, Gembillo, Guido, additional, Di Simone, Emanuele, additional, Di Maria, Alessio, additional, Nicoletti, Simone, additional, Scichilone, Laura Maria, additional, Capone, Matteo, additional, Vinci, Francesca Maria, additional, Bondanelli, Marta, additional, Malaventura, Cristina, additional, Storari, Alda, additional, Santoro, Domenico, additional, Di Muzio, Marco, additional, Dionisi, Sara, additional, and Fabbian, Fabio, additional

Published
2024
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22. The Impact of Physical Exercise on microRNAs in Hemodialysis Patients: A Review and a Protocol for an Ancillary Study

Author

Elia, Rossella, primary, Piva, Giovanni, additional, Bulighin, Francesca, additional, Lamberti, Nicola, additional, Manfredini, Fabio, additional, Gambaro, Giovanni, additional, Di Maria, Alessio, additional, Salvagno, Gianluca, additional, Carbonare, Luca Giuseppe Dalle, additional, Storari, Alda, additional, Valenti, Maria Teresa, additional, and Battaglia, Yuri, additional

Published
2024
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24. Food insecurity and kidney disease: a systematic review

Author

Ferrara, Francesca, primary, Siligato, Rossella, additional, Di Maria, Alessio, additional, Scichilone, Laura, additional, Di Simone, Emanuele, additional, Bondanelli, Marta, additional, Storari, Alda, additional, De Giorgi, Alfredo, additional, Di Muzio, Marco, additional, and Fabbian, Fabio, additional

Published
2023
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25. Increased Relapse Rate During COVID‐19 Lockdown in an Italian Cohort of Children With Juvenile Idiopathic Arthritis

Author

Renata Alfani, Martina Bove, Maria Alessio, Filomena Mozzillo, Valentina Discepolo, Roberta Naddei, and Alfredo Guarino

Subjects
musculoskeletal diseases, Pediatrics, medicine.medical_specialty, pediatric rheumatic diseases, business.industry, Brief Report, Arthritis, Retrospective cohort study, Disease, Juvenile idiopathic arthritis, medicine.disease, SARS‐CoV‐2, Group B, lockdown, Rheumatology, COVID‐19, Pandemic, Cohort, medicine, Brief Reports, Disease management (health), skin and connective tissue diseases, business, Uveitis
Abstract

Objectives Changes of routine disease management associated with COVID-19 lockdown might have potentially affected the clinical course of juvenile idiopathic arthritis (JIA). Aim of our study was to assess the rate of disease flare before and during COVID-19 lockdown to investigate its impact on disease course in JIA children. Methods A single-center retrospective study was conducted, including patients presenting inactive JIA between September 1st , 2018 and March 9th , 2019 (group A) and between September 1st , 2019 and March 9th , 2020 (group B). For each patient, demographic and clinical data were collected. The rate of JIA flare from March 10th , 2019 to June 30th , 2019 for group A and from March 10th , 2020 to June 30th , 2020 for group B was compared. Results Group A included 126 patients and group B 124 patients. Statistical analysis did not show significant differences among the two cohorts with respect to age, sex, age of JIA onset, JIA subtype, co-occurrence of uveitis, ANA positivity and past or ongoing medications. The rate of disease flare during lockdown at time of first COVID-19 pandemic wave, was significantly higher in comparison to the previous year (16.9% vs 6.3%, p=0.009). Conclusion Our study showed that COVID-19 lockdown was associated with a higher rate of joint inflammation in JIA children. This finding has a considerable clinical implication, since restrictive measures may be necessary in order to contain pandemics. Our data highlight the need for rearrangement in the home and healthcare management of JIA children during lockdowns.

Published
2022

26. Comparison of single- and double-spaced feeders with regard to damaging behavior in pigs

Author

Roberta Maria D'Alessio, Alison Hanlon, and Keelin O'Driscoll

Subjects
General Veterinary
Abstract

This work compared the behavior and performance of 24 groups of 12 pigs kept in pens with either a DOUBLE [one feed space aligned with the front wall of the pen (WALL), and one immediately adjacent (IN)] or SINGLE (WALL only) spaced feeder, from weaning until slaughter. Pens were equipped with a rack of fresh grass and a rubber toy (weaning phase) or a wooden board (finishing phase). Every 2 weeks, interaction with the enrichment, aggressive, harmful, and play behaviors were recorded for 5 min, four times a day. In addition, the pigs were individually assessed every 2 weeks for ear, tail, and flank injuries using a 4-point scale. The duration of feeder occupancy, feed space occupancy, number of and duration of feeding bouts, and aggressive behavior at the feeder were recorded continuously from video recordings (two times while in the weaner stage and two times while in the finisher stage, one camera/pen; 1 h per occasion). Individual body weight was recorded at weaning, transfer, and slaughter, and feed delivery was recorded daily at the pen level; from these measurements, average daily gain, feed intake, and feed conversion ratio were calculated. Data were analyzed using SAS v9.4. There was no effect of treatment on damaging behaviors. Pigs in DOUBLE had worse tail lesion scores on 6 of the 9 recording days (P < 0.001), but values rarely exceeded 1. Total feeder occupancy tended to be longer in DOUBLE than in SINGLE (P = 0.06). DOUBLE selected the IN feed space more often than WALL regarding the number of feeding bouts (P < 0.001). During feeding, pigs in DOUBLE received fewer aggressive behaviors than SINGLE (P < 0.001) and experienced fewer displacements than SINGLE (P < 0.001). Although both experimental groups had a similar weight at slaughter (P > 0.05), the FCR was lower in DOUBLE than in SINGLE (P < 0.05). These data suggest that doubling space at the feeder to two spaces/12 pigs reduced aggression and displacement behaviors at the feeder, indicating less competition for food. However, increasing feeder space was not a management strategy that could ensure reduced tail biting on commercial pig farms.

Published
2023
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27. Risk of autoimmune diseases in patients with RASopathies: systematic study of humoral and cellular immunity

Author

Maria Siano, Pietro Strisciuglio, Valentina Pinna, Serena Cabaro, F. Di Candia, S. Sestito, D. Melis, D. De Brasi, Maria Alessio, Vittoria D'Esposito, Stefano Pagano, Pietro Formisano, Marco Tartaglia, Daniela Concolino, V. Marchetti, Giuseppe Perruolo, A. De Luca, Siano, M A, Marchetti, V, Pagano, S, Di Candia, F, Alessio, M, De Brasi, D, De Luca, A, Pinna, V, Sestito, S, Concolino, D, Tartaglia, M, Strisciuglio, P, D'Esposito, V, Cabaro, S, Perruolo, G, Formisano, P, and Melis, D

Subjects
medicine.medical_specialty, Cellular immunity, Inflammatory cytokine, Antigens, CD19, Autoimmunity, CD8 T cells, RASopathy, medicine.disease_cause, Autoimmune Disease, Gastroenterology, Autoimmune Diseases, Immune system, Psoriasis, Internal medicine, medicine, Humans, Pharmacology (medical), Genetics (clinical), Autoimmune disease, Immunity, Cellular, biology, business.industry, Research, Autoantibody, General Medicine, medicine.disease, Inflammatory cytokines, CD8 T cell, biology.protein, Medicine, Antibody, business, Human
Abstract

Background Abnormalities of the immune system are rarely reported in patients affected by RASopathies. Aim of the current study was to investigate the prevalence of immune system dysfunction in a cohort of patients affected by RASopathies. Study design A group of 69 patients was enrolled: 60 at the Federico II University, Naples, 7 at University Magna Graecia of Catanzaro, 2 at “Scuola Medica Salernitana”, Salerno. An age- and sex-matched control group was also enrolled. Autoimmune disorders were investigated according to international consensus criteria. Immune framework was also evaluated by immunoglobulin levels, CD3, CD4, CD8, CD19, CD56 lymphocyte subpopulations, autoantibodies levels and panel of inflammatory molecules, in both patients and controls. Results Frequent upper respiratory tract infections were recorded in 2 patients; pneumonia, psoriasis and alopecia in single patients. Low IgA levels were detected in 8/44 patients (18.18%), low CD8 T cells in 13/35 patients (37.14%). Anti-tg and anti-TPO antibodies were detected in 3/24 patients (12.5%), anti r-TSH in 2 cases (8.33%), all in euthyroidism. Serum IgA and CD8 levels were significantly lower in patients than in controls (p 0.00685; p 0.000656 respectively). All tested patients showed increased inflammatory molecules compared to controls. These findings may anticipate the detection of overt autoimmune disease. Conclusions Patients affected by RASopathies are at risk to develop autoimmune disorders. Routine screening for autoimmunity is recommended in patients with RASopathy.

Published
2021

28. Liver injury in COVID-19 and IL-6 trans-signaling-induced endotheliopathy

Author

Carlos Fernández-Hernando, Aurelio Sonzogni, Yasuko Iwakiri, Zhaoli Sun, Alfred Ian Lee, Sandro Sironi, Matthew McConnell, Alexander B Pine, Pietro Andrea Bonaffini, Hua Qing, Xuchen Zhang, Teruo Utsumi, Nao Kawaguchi, Christina Price, Maria Alessio, Lisa Licini, Giulia Previtali, John Hwa, Mario Strazzabosco, Clarissa Valle, Reiichiro Kondo, Michela Seghezzi, Andrew Wang, Xinbo Zhang, and Hyung J. Chun

Subjects
0301 basic medicine, medicine.medical_specialty, Fibrinogen, Gastroenterology, coagulopathy, Proinflammatory cytokine, 03 medical and health sciences, 0302 clinical medicine, Von Willebrand factor, Antigen, Internal medicine, medicine, Coagulopathy, Humans, Interleukin 6, thrombosis, Liver injury, Hepatology, biology, SARS-CoV-2, business.industry, COVID-19, Endothelial Cells, medicine.disease, Thrombosis, endothelial cell dysfunction, 030104 developmental biology, Liver, Hepatocytes, biology.protein, 030211 gastroenterology & hepatology, business, Research Article, medicine.drug
Abstract

Background and Aims COVID-19 is associated with liver injury and elevated interleukin-6 (IL-6). We hypothesized that IL-6 trans-signaling in liver sinusoidal endothelial cells (LSECs) leads to endotheliopathy (a proinflammatory and procoagulant state) and liver injury in COVID-19. Methods Coagulopathy, endotheliopathy, and alanine aminotransferase (ALT) were retrospectively analyzed in a subset (n = 68), followed by a larger cohort (n = 3,780) of patients with COVID-19. Liver histology from 43 patients with COVID-19 was analyzed for endotheliopathy and its relationship to liver injury. Primary human LSECs were used to establish the IL-6 trans-signaling mechanism. Results Factor VIII, fibrinogen, D-dimer, von Willebrand factor (vWF) activity/antigen (biomarkers of coagulopathy/endotheliopathy) were significantly elevated in patients with COVID-19 and liver injury (elevated ALT). IL-6 positively correlated with vWF antigen (p = 0.02), factor VIII activity (p = 0.02), and D-dimer (p, Graphical abstract

Published
2021

29. Pathological characteristics of liver sinusoidal thrombosis in COVID‐19 patients: A series of 43 cases

Author

Matthew McConnell, Sandro Sironi, Yasuko Iwakiri, Zhaoli Sun, Pietro Andrea Bonaffini, Maria Alessio, Lisa Licini, Michela Seghezzi, Teruo Utsumi, Mario Strazzabosco, Giulia Previtali, Clarissa Valle, Reiichiro Kondo, Nao Kawaguchi, Aurelio Sonzogni, and Xuchen Zhang

Subjects
medicine.medical_specialty, Short Communication, Hyperfibrinogenemia, Fibrinogen, Erythrocyte aggregation, Gastroenterology, Von Willebrand factor, SARS‐CoV‐2 virus, Internal medicine, medicine, Platelet, endotheliopathy, platelet, Liver injury, Hepatology, medicine.diagnostic_test, biology, business.industry, neutrophil, medicine.disease, Thrombosis, Infectious Diseases, Liver biopsy, biology.protein, vWF, fibrinogen, business, medicine.drug
Abstract

Aim Coronavirus disease (COVID‐19) is characterized by pneumonia with secondary damage to multiple organs including the liver. Liver injury (elevated alanine aminotransferase [ALT] and aspartate aminotransferase [AST]) often correlates with disease severity in COVID‐19 patients. The aim of this study is to identify pathological microthrombi in COVID‐19 patient livers by correlating their morphology with liver injury, and examine hyperfibrinogenemia and von Willebrand factor (vWF) as mechanisms of their formation. Methods Forty‐three post‐mortem liver biopsy samples from COVID‐19 patients were obtained from Papa Giovanni XXIII Hospital in Bergamo, Italy. Three morphological features of microthrombosis (sinusoidal erythrocyte aggregation [SEA], platelet microthrombi [PMT], and fibrous thrombi) were evaluated. Results We found liver sinusoidal microthrombosis in 23 COVID‐19 patients (53%) was associated with a higher serum ALT and AST level compared to those without (ALT: 10‐fold, p = 0.04; AST: 11‐fold, p = 0.08). Of 43 livers, PMT and SEA were observed in 14 (33%) and 19 (44%) cases, respectively. Fibrous thrombi were not observed. Platelet microthrombi were associated with increased ALT (p

Published
2021

30. Scorbuto: ancora un problema dei nostri giorni?

Author

Claudia Grieco and Maria Alessio

Subjects
business.industry, Geography, Planning and Development, Medicine, Management, Monitoring, Policy and Law, business
Abstract

Scurvy is a condition due to chronic ascorbic acid deficiency responsible for vascular fragility and impaired bone formation. The result is gingival bleeding, petechial lesions and articular and bone pain or limb swelling. Children may also present with irritability, limping or refusal to walk. Because of these symptoms it can be misdiagnosed with osteomyelitis, septic arthritis, bone and soft tissue tumour, leukaemia, bleeding disorders and other rheumatologic conditions. In highly developed countries it is rare, but should be suspected in children with underlying chronic condition characterized by selective eating as in developmental delay or autism spectrum disorders. The paper presents an emblematic case.

Published
2021

31. Liver histopathology in severe COVID 19 respiratory failure is suggestive of vascular alterations

Author

Eleonora Lauri, Denise Morotti, Roberta Simona Rossi, Pietro Zerbi, Luca Carsana, Alessandro Pellegrinelli, Andrea Gianatti, Aurelio Sonzogni, Maria Alessio, Lisa Licini, Giulia Previtali, Michela Seghezzi, and Manuela Nebuloni

Subjects
Adult, Male, Systemic disease, Pathology, medicine.medical_specialty, Pneumonia, Viral, SARS‐Cov‐2 infection and liver biopsy, Betacoronavirus, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Fibrosis, Parenchyma, medicine, Humans, Pandemics, Aged, Aged, 80 and over, Hepatology, medicine.diagnostic_test, Portal Vein, SARS-CoV-2, business.industry, Brief Definitive Report, COVID-19, Middle Aged, medicine.disease, Thrombosis, liver morphology in COVID 19 disease, medicine.anatomical_structure, Liver, Respiratory failure, 030220 oncology & carcinogenesis, liver histopathology, Female, 030211 gastroenterology & hepatology, Coronavirus Infections, Respiratory Insufficiency, business, Liver function tests, Blood vessel
Abstract

SARS2‐CoV‐2 breakout in Italy caused a huge number of severely ill patients with a serious increase in mortality. Although lungs seem to be the main target of the infection, very few information are available about liver involvement, possibly evocating a systemic disease. Post‐mortem wedge liver biopsies from 48 patients died from severe pulmonary COVID‐19 disease with respiratory failure were collected from two main hospitals in northern Italy. No patient had clinical symptoms of liver disease or signs of liver failure before and during hospitalization; for each of them liver function tests were available. All liver samples showed minimal inflammation features. Histological pictures compatible with vascular alterations were observed, characterized by increase in number of portal vein branches associated with lumen massive dilatation, partial or complete luminal thrombosis of portal and sinusoidal vessels, fibrosis of portal tract, focally markedly enlarged and fibrotic. SARS‐CoV‐2 was found in 15 of 22 samples tested by in situ hybridization method. Our preliminary results confirm the clinical impression that liver failure is not a main concern and this organ is not the target of significant inflammatory damage. Histopathological findings are highly suggestive for marked derangement of intrahepatic blood vessel network secondary to systemic changes induced by virus that could target not only lung parenchyma but also cardiovascular system, coagulation cascade and endothelial layer of blood vessels. It still remains unclear if the mentioned changes are directly related to virus infection or if SARS‐CoV‐2 triggers a series of reactions leading to striking vascular alterations.

Published
2020

32. Evaluation of a novel extended automated particle-based multi-analyte assay for the detection of autoantibodies in the diagnosis of primary biliary cholangitis

Author

Danilo Villalta, Michael Mahler, Brunetta Porcelli, Andrea Seaman, Nicola Bizzaro, Chelsea Bentow, Gary L. Norman, Maria Alessio, Charles Warren, and Marychel Tiongson

Subjects
0301 basic medicine, medicine.medical_specialty, Clinical Biochemistry, Sensitivity and Specificity, Gastroenterology, Epitope, Serology, Automation, 03 medical and health sciences, Liver disease, 0302 clinical medicine, Internal medicine, medicine, Humans, Autoantibodies, Multi analyte, biology, Liver Cirrhosis, Biliary, business.industry, Biochemistry (medical), Autoantibody, IIf, General Medicine, medicine.disease, digestive system diseases, 030104 developmental biology, Liver, Microscopy, Fluorescence, ROC Curve, Case-Control Studies, Cohort, biology.protein, 030211 gastroenterology & hepatology, Antibody, business, Biomarkers
Abstract

Background Anti-mitochondrial autoantibodies (AMA) detected by indirect immunofluorescence (IIF) on rodent tissues are the diagnostic marker of primary biliary cholangitis (PBC). However, up to 15% of patients with PBC are AMA-negative by IIF. In the effort to close the serological gap and improve the diagnostic sensitivity of PBC testing, recently, novel autoantibodies specific for PBC, such as kelch-like 12 (KLHL12, KLp epitope) and hexokinase 1 (HK1) have been described. In this study, we evaluated the autoantibody profile in a large cohort of PBC patients and in patients with other liver disease, including anti-HK1 and anti-KLp autoantibodies. Methods Sera of 194 PBC patients (126 AMA-IIF-positive and 68 AMA-IIF-negative) and 138 disease controls were tested for a panel of PBC-specific antibodies (MIT3, sp100, gp210, HK1, KLp) using a new automated particle-based multi-analyte technology (PMAT) assay on the Aptiva instrument (Inova). Results Selecting a cutoff yielding a specificity of >95% for all the markers, the sensitivity for anti-MIT3, anti-sp100, anti-gp210, anti-HK1 and anti-KLp in the PBC AMA-IIF-negative cohort was 20.6%, 16.2%, 23.5%, 22.0%, 17.6 and 13.2%, respectively. Six out of the 68 (8.8%) AMA-IIF negative sera were positive for anti-HK1 or anti-KLp alone. Using these new markers in addition to anti-MIT3, anti-sp100 and anti-gp210, the overall sensitivity in this cohort of AMA-IIF-negative patients increased from 53% to 61.8%, reducing the serological gap in AMA-negative PBC patients. Conclusions PBC antibody profiling, made possible by the new Aptiva-PMAT technology, allows recognition of a higher number of AMA-negative PBC patients than conventional immunoassays and may represent a useful tool to evaluate the prognostic significance of autoantibody association in PBC patients.

Published
2020

33. Trend of Antitissue Transglutaminase Antibody Normalization in Children With Celiac Disease Started on Gluten-free Diet: A Comparative Study Between Chemiluminescence and ELISA Serum Assays

Author

Alberto Ferrari, Lorenzo Norsa, Giulia Previtali, Giovanni Guerra, Lorenzo D'Antiga, Naire Sansotta, and Maria Alessio

Subjects
Normalization (statistics), medicine.medical_specialty, Younger age, biology, Tissue transglutaminase, business.industry, Gastroenterology, Age at diagnosis, Disease, law.invention, 03 medical and health sciences, 0302 clinical medicine, law, 030225 pediatrics, Internal medicine, Pediatrics, Perinatology and Child Health, medicine, biology.protein, 030211 gastroenterology & hepatology, Gluten free, Antibody, business, Chemiluminescence
Abstract

BACKGROUND The aim of this study is to compare the performance of antitissue transglutaminase (atTG) chemiluminescence immunoassay (CLIA) with the standard enzyme-linked immunosorbent assay (ELISA) methods in monitoring celiac children after the start of gluten-free diet (GFD). METHODS Celiac children diagnosed between 2005 and 2016 at our centre were classified into 2 groups based on serum assay (ELISA vs CLIA) used for atTG monitoring, and were compared on percentage of decrease and time to normalization of atTG on GFD. RESULTS Among 260 included children, the rate of normalization of atTG levels at 30 months' follow-up was 86% and 70% in ELISA and CLIA group, respectively (P

Published
2020

34. COVID-19-associated severe mono-hemispheric encephalitis in a young infant

Author

Francesco Nunziata, Edoardo Vassallo, Maria Alessio, Alfonso Romano, Andrea Lo Vecchio, Alessandra D’Amico, Giuseppe Buono, Eugenia Bruzzese, Alfredo Guarino, Gaetano Terrone, Nunziata, Francesco, Vassallo, Edoardo, Alessio, Maria, Romano, Alfonso, LO VECCHIO, Andrea, D'Amico, Alessandra, Buono, Giuseppe, Bruzzese, Eugenia, Guarino, Alfredo, and Terrone, Gaetano

Subjects
Psychiatry and Mental health, Brain, COVID-19, Encephalitis, Humans, Infant, Neurology (clinical), Dermatology, General Medicine, Encephalitis, Viral
Published
2022

35. The impact of the Eurofever criteria and the new Infevers MEFV classification in real life: results from a large international FMF cohort

Author

Marta Bustaffa, Isabelle Koné-Paut, Seza Ozen, Gayane Amaryan, Efimia Papadopoulou-Alataki, Romina Gallizzi, Maria Carrabba, Yonatan Butbul Aviel, Luca Cantarini, Maria Alessio, Jordi Anton, Laura Obici, Faysal Gok, Ezgi Deniz Batu, Estefania Moreno, Paul Brogan, Maria Trachana, Gabriele Simonini, Donato Rigante, Yosef Uziel, Antonella Insalaco, Maria Cristina Maggio, Nicolino Ruperto, Marco Gattorno, L. Rossi Semerano, Bustaffa M., Kone-Paut I., Ozen S., Amaryan G., Papadopoulou-Alataki E., Gallizzi R., Carrabba M., Aviel Y.B., Cantarini L., Alessio M., Anton J., Obici L., Gok F., Batu E.D., Moreno E., Brogan P., Trachana M., Simonini G., Rigante D., Uziel Y., Insalaco A., Maggio M.C., Ruperto N., Gattorno M., and Semerano L.R.

Subjects
Male, Genetic analysis, Autoinflammatory diseases, Pyrin, Familial Mediterranean fever, Classification criteria, Cohort Studies, Anesthesiology and Pain Medicine, Rheumatology, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Mutation, Familial mediterranean fever, Humans, Female, Registry, Registries, Autoinflammatory diseases, Classification criteria, Familial mediterranean fever, Genetic analysis, Recurrent fevers, Registry, Cohort Studies, Colchicine, Female, Humans, Male, Mutation, Pyrin, Registries, Familial Mediterranean Fever, Colchicine, Recurrent fevers
Abstract

INTRODUCTION: New Eurofever/PRINTO classification criteria (EPCC) for Familial Mediterranean Fever (FMF) and other recurrent fevers have been recently developed, together with the classification of the pathogenicity of MEFV variants. OBJECTIVES: To evaluate the impact in real life of both the EPCC and INSAID pathogenicity classification of MEFV variants in the large international Eurofever FMF cohort. METHODS: Baseline demographic, genetic and clinical data of FMF patients included in the Eurofever registry were evaluated. The EPCC and the 2018 INSAID classification for MEFV variants were applied in all eligible FMF patients. RESULTS: Since November 2009, clinical information was available for 1012 FMF (532 males/480 females, 827 children/185 adults) from 119 centres. Complete data were available for 887 patients in whom 623 (70.2%) satisfied EPCC (EPCC+), while 264 (29.8%) did not (EPCC-). The majority of the EPCC- patients (172, 65.1%) displayed negative or non-informative genetics (monoallelic or biallelic benign variants, monoallelic variant of unknown significance). At baseline, colchicine was used in most of EPCC+ patients (88%) and in a lower percentage of EPCC- patients (69%, p

Published
2022

36. Canakinumab in systemic juvenile idiopathic arthritis: real-world data from a retrospective Italian cohort

Author

Anna Lucia Piscitelli, Roberta Naddei, Fabrizio De Benedetti, Denise Pires Marafon, Davide Montin, Francesco Licciardi, Maria Vincenza Mastrolia, Giovanni Filocamo, Rolando Cimaz, Adele Civino, Achille Marino, Maria Cristina Maggio, Francesco La Torre, Romina Gallizzi, Giorgia Martini, Giovanni Conti, Ilaria Tricarico, Clotilde Alizzi, Angelo Ravelli, Claudia Bracaglia, Arianna De Matteis, Francesca Orlando, Francesca Minoia, Gabriele Simonini, Jessica Tibaldi, Manuela Pardeo, Maria Alessio, Alma Nunzia Olivieri, Francesca Ardenti Morini, De Matteis A., Bracaglia C., Pires Marafon D., Piscitelli A.L., Alessio M., Naddei R., Orlando F., Filocamo G., Minoia F., Ravelli A., Tibaldi J., Cimaz R., Marino A., Simonini G., Mastrolia M.V., La Torre F., Tricarico I., Licciardi F., Montin D., Maggio M.C., Alizzi C., Martini G., Civino A., Gallizzi R., Olivieri A.N., Morini F.A., Conti G., De Benedetti F., Pardeo M., De Matteis, A, Bracaglia, C, Marafon, Dp, Piscitelli, Al, Alessio, M, Naddei, R, Orlando, F, Filocamo, G, Minoia, F, Ravelli, A, Tibaldi, J, Cimaz, R, Marino, A, Simonini, G, Mastrolia, Mv, La Torre, F, Tricarico, I, Licciardi, F, Montin, D, Maggio, Mc, Alizzi, C, Martini, G, Civino, A, Gallizzi, R, Olivieri, An, Morini, Fa, Conti, G, De Benedetti, F, Pardeo, M., Pires Marafon, D, Ardenti Morini, F, and Pardeo, M

Subjects
medicine.medical_specialty, Multivariate analysis, systemic juvenile idiopathic arthritis, Arthritis, Juvenile, Antibodies, Monoclonal, Humanized, canakinumab, Antibodies, Settore MED/38 - Pediatria Generale E Specialistica, Rheumatology, Internal medicine, Monoclonal, medicine, clinically inactive disease, Child, Glucocorticoids, Humans, Retrospective Studies, Arthritis, Juvenile, Macrophage Activation Syndrome, canakinumab, clinically inactive disease, systemic juvenile idiopathic arthritis, Antibodies, Monoclonal, Humanized, Child, Glucocorticoids, Humans, Retrospective Studies, Arthritis, Juvenile, Macrophage Activation Syndrome, Pharmacology (medical), clinical inactive disease, Adverse effect, Humanized, Univariate analysis, Anakinra, business.industry, medicine.disease, Canakinumab, Macrophage activation syndrome, Cohort, Systemic juvenile idiopathic arthriti, business, medicine.drug
Abstract

Objective The objective of this study was to use real-world data to evaluate the effectiveness and safety of canakinumab in Italian patients with systemic JIA (sJIA). Methods A retrospective multicentre study of children with sJIA was performed. Clinical features, laboratory parameters and adverse events were collected at baseline, and 6 and 12 months after starting canakinumab. The primary outcome measure of effectiveness was clinically inactive disease (CID) off glucocorticoids (GCs) treatment at 6 months. Results A total of 80 children from 15 Italian centres were analysed. Of the 12 patients who started canakinumab in CID while receiving anakinra, all maintained CID. Of the 68 with active disease at baseline, 57.4% achieved CID off GCs at 6 months and 63.8% at 12 months. In univariate analysis, the variables significantly related to non-response were number of active joints (NAJs) ≥5, history of macrophage activation syndrome (MAS) and disease duration. Multivariate analysis confirmed the association between non-response and NAJs ≥5 [odds ratio (OR) 6.37 (95% CI: 1.69, 24.02), P = 0.006] and between non-response and history of MAS [OR 3.53 (95% CI: 1.06, 11.70), P = 0.039]. No serious adverse events were recorded in this series. There were two cases of MAS during canakinumab, leading to a rate of 2.9 episodes per 100 patient years. Conclusion We have confirmed, using real-world data, the efficacy of canakinumab in sJIA in a multicentric cohort. History of MAS and higher NAJ were associated with lower probability of achieving CID.

Published
2022

37. Patient-Reported Outcomes Among Patients Ages Two to Seventeen Years With Polyarticular-Course Juvenile Idiopathic Arthritis Treated With Subcutaneous Abatacept: Two-Year Results From an International Phase III Study

Author

Nicolino Ruperto, Daniel J. Lovell, Alberto Berman, Francisco Ávila-Zapata, Gerd Horneff, Maria Alessio, Mara L. Becker, Alexandre Belot, Ruben Burgos-Vargas, Maria L. Gamir, Claudia Goldenstein-Schainberg, Iloite M. Scheibel, Maria T. Terreri, Lawrence Zemel, Joe Zhuo, Margarita Askelson, Robert Wong, Alberto Martini, Hermine I. Brunner, Ruperto, Nicolino, Lovell, Daniel J., Berman, Alberto, Ávila-Zapata, Francisco, Horneff, Gerd, Alessio, Maria, Becker, Mara L., Belot, Alexandre, Burgos-Vargas, Ruben, Gamir, Maria L., Goldenstein-Schainberg, Claudia, Scheibel, Iloite M., Terreri, Maria T., Zemel, Lawrence, Zhuo, Joe, Askelson, Margarita, Wong, Robert, Martini, Alberto, and Brunner, Hermine I.

Abstract

Objective: To describe longitudinal changes in patient-reported outcomes (PROs) in children with polyarticular-course juvenile idiopathic arthritis (pJIA) treated with subcutaneous abatacept. Methods: Secondary analysis of a single-arm, open-label 24-month study of patients ages 6-17 years and 2-5 years. PROs included Childhood Health Assessment Questionnaire-Disability Index (CHAQ-DI), parent global assessment of child well-being (PaGA), pain assessment, and Activity Limitation Questionnaire (ALQ). Clinical outcomes included 50% or greater improvement in JIA American College of Rheumatology (ACR) criteria, clinically inactive disease, and Juvenile Arthritis Disease Activity Score. Results: For the 6- to 17-year-old (n = 173) and 2- to 5-year-old (n = 46) cohorts, respectively, median (Q1, Q3) changes from baseline in CHAQ-DI at months 4 and 24 were -0.3 (-0.8, 0.0) and -0.5 (-1.0, -0.1), and -0.4 (-0.8, 0.0) and -0.5 (-1.0--0.1). Median pain scores were below cutoff threshold for clinically relevant pain (

Published
2022

38. Corrigendum to The impact of the Eurofever criteria and the new InFevers MEFV classification in real life: Results from a large international FMF cohort

Author

Marta Bustaffa, Isabelle Koné-Paut, Seza Ozen, Gayane Amaryan, Efimia Papadopoulou-Alataki, Romina Gallizzi, Maria Carrabba, Yonatan Butbul Aviel, Luca Cantarini, Maria Alessio, Jordi Anton, Laura Obici, Faysal Gok, Ezgi Deniz Batu, Estefania Moreno, Paul Brogan, Maria Trachana, Gabriele Simonini, Donato Rigante, Yosef Uziel, Antonella Insalaco, Maria Cristina Maggio, Nicolino Ruperto, Marco Gattorno, and L Rossi Semerano

Subjects
Anesthesiology and Pain Medicine, Rheumatology
Published
2023

39. Sustained low-efficiency dialysis with regional citrate anticoagulation in critically ill patients with COVID-19 associated AKI: A pilot study

Author

Di Mario, Francesca, primary, Regolisti, Giuseppe, additional, Di Maria, Alessio, additional, Parmigiani, Alice, additional, Benigno, Giuseppe Daniele, additional, Picetti, Edoardo, additional, Barbagallo, Maria, additional, Greco, Paolo, additional, Maccari, Caterina, additional, and Fiaccadori, Enrico, additional

Published
2021
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40. Immunologic skin signatures in SARS-CoV-2-negative patients with chilblain-like lesions

Author

Angela Patrì, Maria Vastarella, Luca Pierri, Francesca Gaudiello, Andrea Catzola, G. Caiazzo, Alfredo Guarino, Maria Alessio, Gabriella Fabbrocini, Paola Nappa, Vastarella, M, Patrì, A, Caiazzo, G, Nappa, P, Gaudiello, F, Pierri, L, Catzola, A, Alessio, M, Guarino, A, and Fabbrocini, G.

Subjects
2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, RL1-803, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), Medicine, Dermatology, business, Virology, Article
Published
2021

41. Persistence of disease flares is associated with an inadequate colchicine dose in familial Mediterranean fever: A national multicenter longitudinal study

Author

Angela Miniaci, Nicolino Ruperto, Maria Greca Magnolia, Alessandra Spagnolo, Giovanni Conti, Davide Montin, Maria Carrabba, Laura Obici, Giovanna Fabio, Edoardo Marrani, Giovanna Capozio, Marco Cattalini, Patrizia Barone, Maddalena Lancieri, Francesco Calzatini, Valentina Moressa, Maria Cristina Maggio, Gabriele Simonini, Camilla Celani, Luca Cantarini, Francesca Mazza, Diana Sutera, Roberta Mussinelli, Luciana Breda, Marta Bustaffa, Romina Gallizzi, Francesca Orlando, Maria Alessio, Antonella Insalaco, Alma Nunzia Olivieri, Donato Rigante, Carla Gaggiano, Francesca Ricci, Marco Gattorno, Bustaffa, M, Mazza, F, Sutera, D, Carrabba, Md, Alessio, M, Cantarini, L, Obici, L, Rigante, D, Maggio, Mc, Insalaco, A, Simonini, G, Cattalini, M, Conti, G, Olivieri, An, Barone, P, Miniaci, A, Moressa, V, Magnolia, Mg, Breda, L, Montin, D, Spagnolo, A, Fabio, G, Orlando, F, Gaggiano, C, Mussinelli, R, Capozio, G, Celani, C, Marrani, E, Ricci, F, Calzatini, F, Lancieri, M, Ruperto, N, Gattorno, M, Gallizzi, R, Bustaffa M., Mazza F., Sutera D., Carrabba M.D., Alessio M., Cantarini L., Obici L., Rigante D., Maggio M.C., Insalaco A., Simonini G., Cattalini M., Conti G., Olivieri A.N., Barone P., Miniaci A., Moressa V., Magnolia M.G., Breda L., Montin D., Spagnolo A., Fabio G., Orlando F., Gaggiano C., Mussinelli R., Capozio G., Celani C., Marrani E., Ricci F., Calzatini F., Lancieri M., Ruperto N., Gattorno M., and Gallizzi R.

Subjects
Longitudinal study, business.industry, Familial Mediterranean fever, Interleukin, Disease, Familial Mediterranea fever, medicine.disease, Symptom Flare Up, Colchicine, Humans, Interleukin 1 Receptor Antagonist Protein, Longitudinal Studies, Familial Mediterranean Fever, Persistence (computer science), chemistry.chemical_compound, Settore MED/38 - Pediatria Generale E Specialistica, chemistry, Colchicine, Humans, Interleukin 1 Receptor Antagonist Protein, Longitudinal Studies, Symptom Flare Up, Familial Mediterranean Fever, Immunology, COLCHICINE RESISTANCE, Immunology and Allergy, Medicine, business
Abstract

Familial Mediterranean fever (FMF) is characterized by self limited episodes of fever and polyserositis.1 MEFV gene en codes for a protein named Pyrin, which plays a pivotal role in the activation and secretion of IL-1.2 Daily colchicine is highly effective in preventing attacks in this disorder in a dose-related fashion.3 Many definitions of colchicine resistance are available in the literature. The European League Against Rheumatism (EULAR) guidelines defined resistance as one or more attacks per month in compliant patients who had been receiving the maxi mally tolerated dose for at least 6 months.4 A similar definition was confirmed by a recent consensus among experts.5 In the present national multicentric longitudinal study, we analyze the impact of colchicine treatment on disease activity and quality of life in real life in pediatric and adult patients with FMF.

Published
2021

42. Tapering Canakinumab Monotherapy in Patients with Systemic Juvenile Idiopathic Arthritis in Clinical Remission: Results from an Open‐label, Randomized Phase IIIb/IV Study

Author

Pierre, Quartier, Ekaterina, Alexeeva, Constantin, Tamàs, Vyacheslav, Chasnyk, Nico, Wulffraat, Karin, Palmblad, Carine, Wouters, Hermine, Brunner, Katherine, Marzan, Rayfel, Schneider, Gerd, Horneff, Martini, Alberto, Jordi, Anton, Xiaoling, Wei, Alan, Slade, Ruperto, Nicolino, Ken, Abrams, Wolfgang, Emminger, Andrea, Ulbrich, Sugarka, Fodor, Lien, Desomer, Bernard, Lauwerys, Bénédicte, Brichard, Cécile, Boulanger, Gabriel, Levy, Laurence, Goffin, Phu Quoc Le, Marcia, Bandeira, Christina Feitosa Pelajo, Sheila Knupp Feitosa, Christianne, Costa, Marta Cristine Felix Rodrigues, Clovis Artur Almeida da Silva, Lucia Maria Mattei de, Katia, Kozu, Ronald, Laxer, Kristin, Houghton, Lori, Tucker, Kimberly, Morishita, Agnes, Mogenet, Richard, Mouy, Brigitte Bader Meunier, Candice, Meyzer, Michaela, Semeraro, Ouafa, Ben‐brahim, Isabelle, Kone‐paut, Caroline, Galeotti, Linda, Rossi, Perrine, Dusser, Bilade, Cherquaoui, Alexandre, Belot, Agnes, Duquesne, Freychet, Caroline, Laurent, Audrey, Marine, Desjonqueres, Ivan, Foeldvari, Antonia, Kienast, Barbara, Willig, Deborah, Barthel, Joachim, Peitz, Stefanie, Wintrich, Tilman Felix Geikowski, Anna Carina Schulz, Markus, Hufnagel, Marc, Hirdes, Rouven, Kubicki, Janbernd, Kirschner, Ales, Janda, Andre, Jacob, Cornelia, Emerich, Anna, Raab, Gonza, Ngoumou, Kirsten, Minden, Mareike, Lieber, Sae‐Lim von Stuckrad, Jasmin Kuemmerle Deschner, Sandra, Hansmann, Tom, Schleich, Ines Maria Magunia, Joachim, Riethmuller, Nicole, Anders, Hartwig, Lehmann, Jan de Laffolie, Thomas, Lutz, Juergen, Grulich‐henn, Johannes, Pfeil, Astrid, Helling‐bakki, Ralf, Trauzeddel, Daniel, Haselbusch, Henryk, Kolbeck, Elisabeth, Weissbarth‐riedel, Anja, Froehlich, Andrea, Ponyi, Diana, Garan, Ilonka, Orban, Krisztina, Sevcic, Yonatan, Butbul, Riva, Brik, Philip, Hashkes, Ori, Toker, Ruby, Haviv, Yosef, Uziel, Rubi, Haviv, Veronica, Moshe, Michal, Rothschild, Liora, Harel, Gil, Amarilyo, Rotem, Tal, Mohamad Hamad Said, Irit, Tirosh, Shiri, Spielman, Maya, Gerstein, Ravelli, Angelo, Schiappapietra, Benedetta, Varnier, GIULIA CAMILLA, Finetti, Martina, Marasini, Maurizio, Caorsi, Roberta, Rosina, Silvia, Federici, Silvia, Irene, Pontikaki, Pier Luigi Meroni, Valeri, Gerloni, Nicola, Ughi, Tania, Ubiali, Maria, Alessio, Roberto Della Casa, Sebastiaan Jozef Vastert, Joost Frans Swart, van Royen‐Kerhof, A., Ellen, Schatorje, Van Iperen‐Schutte, G., Lidia, Rutkowska‐sak, Izabela, Szczygielska, Malgorzata, Kwiatkowska, Maria, Marusak‐banacka, Piotr, Gietka, Kseniya, Isaeva, Rina, Denisova, Ludmila, Snegireva, Margarita, Dubko, Mikhail, Kostik, Natalia, Buchinskaia, Olga, Kalashnikova, Sergey, Avrusin, Vera, Masalova, Esmeralda Nunez Cuadros, Gisela, Diez, Rocio Galindo Zavala, Rosa Bou Torrent, Estibaliz, Iglesias, Joan, Calzada, Violeta, Bittermann, Alina Lucica Boteanu, Maria Luz Gamir, Inmaculada, Calvo, Berta, Lopez, Isabel, Gonzalez, Laura, Fernandez, Daniel Clemente Garulo, Juan Carlos Lopez Robledillo, Rosa, Merino, Rosa, Alcobendas, Agustin, Remesal, Sara, Murias, Magnusson, Bo, Ozgur, Kasapcopur, Kenan, Barut, Amra, Adrovic, Sezgin, Sahin, Muferet, Erguven, Refia Gozdenur Savci, Seza, Ozen, Selcan, Demir, Yelda, Bilginer, Zehra Serap Avci, Ezgi Deriz Batu, Andreas, Reiff, Anusha, Ramanatham, Diana, Brown, Bracha, Shaham, Shirley, Parks, Michal, Cidon, Gloria, Higgins, Charles, Spencer, Jenny, Rossette, Karla, Jones, Sharon Bout Tabaku, Shelli, Farley, Shoghik, Akoghlanian, Quartier, Pierre, Alexeeva, Ekaterina, Tamàs, Constantin, Chasnyk, Vyacheslav, Wulffraat, Nico, Palmblad, Karin, Wouters, Carine, Brunner, Hermine, Marzan, Katherine, Schneider, Rayfel, Horneff, Gerd, Martini, Alberto, Anton, Jordi, Wei, Xiaoling, Slade, Alan, Ruperto, Nicolino, Abrams, Ken, Emminger, Wolfgang, Ulbrich, Andrea, Fodor, Sugarka, Desomer, Lien, Lauwerys, Bernard, Brichard, Bénédicte, Boulanger, Cécile, Levy, Gabriel, Goffin, Laurence, Quoc Le, Phu, Bandeira, Marcia, Feitosa Pelajo, Christina, Knupp Feitosa, Sheila, Costa, Christianne, Cristine Felix Rodrigues, Marta, Artur Almeida da Silva, Clovi, Maria Mattei de, Lucia, Kozu, Katia, Laxer, Ronald, Houghton, Kristin, Tucker, Lori, Morishita, Kimberly, Mogenet, Agne, Mouy, Richard, Bader Meunier, Brigitte, Meyzer, Candice, Semeraro, Michaela, Ben‐brahim, Ouafa, Kone‐paut, Isabelle, Galeotti, Caroline, Rossi, Linda, Dusser, Perrine, Cherquaoui, Bilade, Belot, Alexandre, Duquesne, Agne, Caroline, Freychet, Audrey, Laurent, Desjonqueres, Marine, Foeldvari, Ivan, Kienast, Antonia, Willig, Barbara, Barthel, Deborah, Peitz, Joachim, Wintrich, Stefanie, Felix Geikowski, Tilman, Carina Schulz, Anna, Hufnagel, Marku, Hirdes, Marc, Kubicki, Rouven, Kirschner, Janbernd, Janda, Ale, Jacob, Andre, Emerich, Cornelia, Raab, Anna, Ngoumou, Gonza, Minden, Kirsten, Lieber, Mareike, von Stuckrad, Sae‐lim, Kuemmerle Deschner, Jasmin, Hansmann, Sandra, Schleich, Tom, Maria Magunia, Ine, Riethmuller, Joachim, Anders, Nicole, Lehmann, Hartwig, de Laffolie, Jan, Lutz, Thoma, Grulich‐henn, Juergen, Pfeil, Johanne, Helling‐bakki, Astrid, Trauzeddel, Ralf, Haselbusch, Daniel, Kolbeck, Henryk, Weissbarth‐riedel, Elisabeth, Froehlich, Anja, Ponyi, Andrea, Garan, Diana, Orban, Ilonka, Sevcic, Krisztina, Butbul, Yonatan, Brik, Riva, Hashkes, Philip, Toker, Ori, Haviv, Ruby, Uziel, Yosef, Haviv, Rubi, Moshe, Veronica, Rothschild, Michal, Harel, Liora, Amarilyo, Gil, Tal, Rotem, Hamad Said, Mohamad, Tirosh, Irit, Spielman, Shiri, Gerstein, Maya, Ravelli, Angelo, Schiappapietra, Benedetta, Camilla Varnier, Giulia, Finetti, Martina, Marasini, Maurizio, Caorsi, Roberta, Rosina, Silvia, Federici, Silvia, Pontikaki, Irene, Luigi Meroni, Pier, Gerloni, Valeri, Ughi, Nicola, Ubiali, Tania, Alessio, Maria, DELLA CASA, Roberto, Jozef Vastert, Sebastiaan, Frans Swart, Joost, van Royen‐Kerhof, A., Schatorje, Ellen, Van Iperen‐Schutte, G., Rutkowska‐sak, Lidia, Szczygielska, Izabela, Kwiatkowska, Malgorzata, Marusak‐banacka, Maria, Gietka, Piotr, Isaeva, Kseniya, Denisova, Rina, Snegireva, Ludmila, Dubko, Margarita, Kostik, Mikhail, Buchinskaia, Natalia, Kalashnikova, Olga, Avrusin, Sergey, Masalova, Vera, Nunez Cuadros, Esmeralda, Diez, Gisela, Galindo Zavala, Rocio, Bou Torrent, Rosa, Iglesias, Estibaliz, Calzada, Joan, Bittermann, Violeta, Lucica Boteanu, Alina, Luz Gamir, Maria, Calvo, Inmaculada, Lopez, Berta, Gonzalez, Isabel, Fernandez, Laura, Clemente Garulo, Daniel, Carlos Lopez Robledillo, Juan, Merino, Rosa, Alcobendas, Rosa, Remesal, Agustin, Murias, Sara, Magnusson, Bo, Kasapcopur, Ozgur, Barut, Kenan, Adrovic, Amra, Sahin, Sezgin, Erguven, Muferet, Gozdenur Savci, Refia, Ozen, Seza, Demir, Selcan, Bilginer, Yelda, Serap Avci, Zehra, Deriz Batu, Ezgi, Reiff, Andrea, Ramanatham, Anusha, Brown, Diana, Shaham, Bracha, Parks, Shirley, Cidon, Michal, Higgins, Gloria, Spencer, Charle, Rossette, Jenny, Jones, Karla, Bout Tabaku, Sharon, Farley, Shelli, and Akoghlanian, Shoghik

Published
2021

43. Diagnosing and monitoring celiac patients with selective IgA deficiency: still an open issue

Author

Carlotta Maida, Mariangela Manfredi, Martina Fabris, Mariarosa Gaudio, Marilina Tampoia, Nicola Bizzaro, Gaia Deleonardi, Ignazio Brusca, Marco Di Tola, Danilo Villalta, Giampaola Pesce, Giulia Previtali, Brunetta Porcelli, Maria Infantino, and Maria Alessio

Subjects
medicine.medical_specialty, Pediatrics, Monitoring, Physiology, Celiac disease, Diagnosis, ESPGHAN guidelines, Monitoring, Selective IgA deficiency, Serum iga, Disease, Selective IgA deficiency, Diagnostic tools, Serology, Celiac disease, Diagnosis, ESPGHAN guidelines, Internal medicine, Humans, Medicine, Pediatric gastroenterology, business.industry, IgA Deficiency, Gastroenterology, Hepatology, medicine.disease, Immunoglobulin A, Immunoglobulin A deficiency, Practice Guidelines as Topic, business, Biomarkers
Abstract

Although, the association between celiac disease (CD) and selective immunoglobulin A deficiency (SIgAD) has been known for more than fifty years, the procedures for diagnosing and monitoring patients with both conditions are still far from definitive. When serological markers were introduced as pre-bioptic investigations, it was immediately clear that searching for specific IgA antibodies without checking total serum IgA could lead to a failure in diagnosing IgA-deficient CD patients, while specific IgG antibodies could be useful as additional tests, because they are frequently found in the serum of affected patients. Nonetheless, until recently the diagnosis of CD in IgA-deficient patients was based on the few, fragmentary and often contradictory data available in literature. The introduction of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) guidelines in 2012 provided the current criteria for diagnosing CD in IgA-deficient patients, although some issues remained open, such as the selection of patients who should undergo specific IgG antibody testing and the choice of the most reliable IgG-based test for both diagnosis and follow-up. A real-life study recently assessed the impact of the 2012 ESPGHAN guidelines in diagnosing and monitoring CD in SIgAD patients, highlighting several pitfalls that can lead to operational uncertainties and difficulties in patient management. In the present report, the evolution of diagnostic tools and criteria for CD in SIgAD patients has been critically assessed, both strengths and open issues have been highlighted, and future perspectives for improving the current diagnostic protocols have been suggested.

Published
2021

45. A new dermoscopic pattern for chilblain-COVID-19–like skin lesions in adolescents

Author

Maria Alessio, Andrea Catzola, Paola Nappa, Vincenzo Greco, Maria Vastarella, Francesca Gaudiello, Elisa Camela, Gabriella Fabbrocini, Maria Carmela Annunziata, Alfredo Guarino, Luca Pierri, Fabbrocini, Gabriella, Vastarella, Maria, Nappa, Paola, Annunziata, Maria C., Camela, Elisa, Greco, Vincenzo, Gaudiello, Francesca, Alessio, Maria, Pierri, Luca, Catzola, Andrea, and Guarino, Alfredo

Subjects
medicine.medical_specialty, 2019-20 coronavirus outbreak, Coronavirus disease 2019 (COVID-19), business.industry, Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), MEDLINE, Dermatology, rosettes, lcsh:RL1-803, white streaks, lcsh:Dermatology, Medicine, chilblain-like lesions, dermoscopy, business, Skin lesion
Published
2020
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46. Novel assay to diagnose and monitor cryopyrin associated periodic syndromes (CAPS)

Author

Fortunata Carbone, Luca Cantarini, Teresa Micillo, Maria Alessio, Alma Nunzia Olivieri, Maria Francesca Gicchino, Antonella Insalaco, Maria Cristina Maggio, Orso Maria Lucherini, Roberto Scarpioni, Matteo Piga, Maria Maddalena Angioni, Laura Obici, Antonella Simpatico, Pietro Leccese, Rita Consolini, Raffaele Manna, Paolo Sfriso, Sara Bindoli, Paola Galozzi, Ida Orlando, Sabrina Chiesa, Marco Gattorno, Giuseppe Matarese, and Fortunata Carbone, Luca Cantarini, Teresa Micillo, Maria Alessio,Alma Nunzia Olivieri, Maria Francesca Gicchino, Antonella Insalaco,Maria Cristina Maggio, Orso Maria Lucherini, Roberto Scarpioni,Matteo Piga, Maria Maddalena Angioni, Laura Obici, Antonella Simpatico, Pietro Leccese, Rita Consolini, Raffaele Manna, Paolo Sfriso, Sara Bindoli, Paola Galozzi, Ida Orlando, Sabrina Chiesa,Marco Gattorno, Giuseppe Matarese

Subjects
Settore MED/38 - Pediatria Generale E Specialistica, CAPS, TRAPS, ASC
Abstract

Introduction: Cryopyrin associated periodic syndromes (CAPS) are rare autoinflammatory disorders associated with dominantly gain-offunction mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of interleukin (IL)-1beta and IL-18, and systemic inflammation. It has been reported that oligomeric particles of the adaptor ASC (apoptosis-associated Speck-like protein with a caspase-recruitment domain) are released together with IL-1beta and active caspase-1 subunits after activation of the inflammosome complex and that patients with CAPS show an increased serum concentration of ASC+ particles. Objectives: The diagnosis of CAPS is a critical factor due to both the lack of specific laboratory results and the sharing of similar clinical manifestations with other autoinflammatory diseases, our aim is to develop a simple assay to evaluate the levels of ASC particles in the serum of CAPS patients to provide novel biomarkers facilitating early disease diagnosis and able to monitor treatment responses. Methods: We developed an ELISA for the quantification of ASC particles in serum and plasma of normal and pathological subjects. We analysed samples from CAPS patients and from patients with autoimmune disorders (Multiple Sclerosis (MS), Type 1 Diabetes (T1D) and juvenile idiopathic arthritis), to confirm that ASC presence in the serum is not due to other chronic inflammatory processes characterizing autoimmunity. In addition, we also evaluated the concentration of ASC in the sera of TNF receptor–associated periodic syndrome (TRAPS) patients to reinforce the concept of specificity of this biomarker in CAPS patients and not in individuals suffering from others inflammatory disorders. Results: We observed that untreated CAPS patients are characterized by the presence of a significant higher amount of ASC particles when compared with healthy controls (HS) and with patients suffering from MS and T1D. This tendency was also evident in patients with arthritis and TRAPS even if the difference was not statistically significant due to the small number of samples. In addition there is a tendency through a reduction of ASC levels in CAPS patients after pharmacological treatment, which require future investigations. Conclusion: These data suggest that ELISA quantitation of ASC protein could represent a novel and additional strategy for the diagnosis and monitoring of CAPS.

Published
2019

47. Anakinra drug retention rate and predictive factors of drug survival in systemic juvenile idiopathic arthritis and adult onset Still’s disease

Author

Jurgen Sota, Donato Rigante, Antonella Insalaco, Paolo Sfriso, Salvatore de Vita, Rolando Cimaz, Giuseppe Lopalco, Giacomo Emmi, Francesco La Torre, Claudia Fabiani, Alma N. Olivieri, Marco Cattalini, Daniele Cammelli, Romina Gallizzi, Maria Alessio, Raffaele Manna, Ombretta Viapiana, Micol Frassi, Armin Maier, Carlo Salvarani, Rosaria Talarico, Roberta Priori, Maria C. Maggio, Manuela Pardeo, Carla Gaggiano, Salvatore Grosso, Fabrizio de Benedetti, Antonio Vitale, Luca Cantarini, and Jurgen Sota, Donato Rigante, Antonella Insalaco, Paolo Sfriso,Salvatore de Vita, Rolando Cimaz, Giuseppe Lopalco, Giacomo Emmi,Francesco La Torre, Claudia Fabiani, Alma N. Olivieri, Marco Cattalini, Daniele Cammelli, Romina Gallizzi, Maria Alessio, Raffaele Manna, Ombretta Viapiana, Micol Frassi, Armin Maier, Carlo Salvarani, Rosaria Talarico, Roberta Priori, Maria C. Maggio, Manuela Pardeo, Carla Gaggiano, Salvatore Grosso, Fabrizio de Benedetti, Antonio Vitale, Luca Cantarini

Subjects
Settore MED/38 - Pediatria Generale E Specialistica, Anakinra, Settore MED/16 - REUMATOLOGIA, Anakinra, Systemic Juvenile Idiopathic Arthritis, Still’s disease
Abstract

Introduction: Only a few studies have reported the long-term efficacy of interleukin (IL)-1 inhibition in systemic juvenile idiopathic arthritis (sJIA) and adult onset Still’s disease (AOSD). We herein describe Anakinra (ANA) effectiveness expressed in terms of drug retention rate (DRR) and evaluate predictive factors of drug survival in sJIA and ASOD patients. Objectives: Examine the overall DRR of ANA in sJIA and AOSD patients. Explore the influence of biologic line of treatment, and the concomitant use of disease modifying anti-rheumatic drugs (cDMARDs) on DRR in the whole sample and stratified according to the disease thereafter; find eventual predictive factors associated with events leading to drug discontinuation. The corticosteroid (CS)- and cDMARDS-sparing effect, the impact of treatment delay on survival and the record of safety profile constituted ancillary aims. Methods: Medical records from 61 sJIA and 76 AOSD patients treated with ANA in 24 Italian tertiary referral centers were retrospectively reviewed. Results: The cumulative retention rate of ANA at 12-, 24-, 48- and 60-months of follow-up was 74.3%, 62.9%, 49.4% and 49.4% respectively, without any significant differences between sJIA and AOSD patients (p=0.164), and between patients treated in monotherapy compared to the subgroup co-administered with conventional cDMARDs (p=0.473). On the other hand, a significant difference in DRR was found between biologic-naive patients and those previously treated with biologic drugs (p=0.009), which persisted even after adjusting for pathology (p=0.013). In regression analysis, patients experiencing adverse events (AEs) (HR=3.029 [C.I. 1.750-5.242], p

Published
2019

49. Etanercept as a successful therapy in autoinflammatory syndrome related to TRNT1 mutations: a case-based review

Author

Francesca Orlando, Maria Alessio, Daniela Melis, Emilia Stellacci, Roberta Naddei, Marco Tartaglia, Carlo Maria Gallinoro, Orlando, F, Naddei, R, Stellacci, E, Gallinoro, Cm, Melis, D, Tartaglia, M, and Alessio, M.

Subjects
Oncology, medicine.medical_specialty, Compound heterozygosity, Etanercept, TNF inhibitors, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Internal medicine, Autoinflammatory syndrome, medicine, Humans, 030212 general & internal medicine, Immunodeficiency, Exome sequencing, 030203 arthritis & rheumatology, business.industry, Genetic heterogeneity, SIFD, Immunologic Deficiency Syndromes, General Medicine, Autoinflammatory Syndrome, medicine.disease, Phenotype, Nucleotidyltransferases, TRNT1, Mutation, business, TNF inhibitor, medicine.drug
Abstract

Mutations in the gene encoding tRNA nucleotidyltransferase 1 (TRNT1) are associated with heterogeneous phenotypes and multisystem involvement of variable severity and progression. Immunodeficiency and inflammation are recurrent-associated features. The use of cytokine inhibitors in suppressing the inflammatory phenotype has been recently reported, with a 3-year follow-up for patients treated with Etanercept. We report on two unrelated patients sharing the same clinical condition, who had been referred to our Pediatric Rheumatology Unit because of recurrent fever associated with cutaneous lesions and increased levels of inflammatory markers since their first months of life. Whole exome sequencing allowed to identify compound heterozygosity for functionally relevant variants in TRNT1 as the only molecular event shared by the two patients. Both patients have been treated with Etanercept during 11 years, documenting normalization of inflammatory indexes and resolution of recurrent fever and associated symptoms. This is the longest follow-up assessment of Etanercept treatment in patients with TRNT1 mutations. Our findings confirm efficacy and safety of the treatment. Key Points • Mutations in TRNT1 have been associated with phenotypic heterogeneity. • We report on two patients with early-onset autoinflammatory syndrome. • Whole exome sequencing led to reveal compound heterozygosity for two variants in TRNT1 in both patients. • The patients were successfully treated with Etanercept for more than 10 years, the longest follow-up described in literature.

Published
2020

50. Liver histopathology in COVID 19 infection is suggestive of vascular alteration

Author

Eleonora Lauri, Michela Seghezzi, Andrea Gianatti, Manuela Nebuloni, Roberta Simona Rossi, Alessandro Pellegrinelli, Pietro Zerbi, Aurelio Sonzogni, Luca Carsana, Giulia Previtali, Maria Alessio, and Lisa Licini

Subjects
Systemic disease, Pathology, medicine.medical_specialty, business.industry, Lumen (anatomy), Disease, medicine.disease, Thrombosis, Liver disease, medicine.anatomical_structure, Fibrosis, Parenchyma, medicine, business, Blood vessel
Abstract

COVID-19 breakout in Italy has caused a huge number of severely ill patients with a serious increase in mortality. Although lungs seem to be the main target of the infection very few information are available about liver involvement in COVID-19 infection, that could possibly evocate a systemic disease targeting a lot of organs. Since now there are no reports of large series of histological evaluation of liver morphology in this setting. Knowledge of histological liver findings connected to clinical data is crucial in management of this disease. Post-mortem wedge liver biopsies from 48 patients died for COVID-19 infection were available from two main hospitals located in northern Italy, Lombardy; all sample were obtained during autopsies. No patient has a significant clinical complain of liver disease or signs of liver failure before and during hospitalization; for each of them laboratory data focused on liver were available. All liver samples showed minimal inflammation features; on the other side, many histological pictures compatible with vascular alterations were observed, characterized by portal vein braches number increase associated with lumen massive dilatation, partial or complete recent luminal thrombosis of portal and sinusoidal vessels, fibrosis of portal tract, focally severely enlarged and fibrotic. Our preliminary results concerning histological liver involvement in COVID-19 infection confirm the clinical impression that liver failure is not a main concern and this organ is not the target of significant inflammatory damage; histopatological findings are highly suggestive for marked alteration of intrahepatic blood vessel network secondary to systemic alterations induced by virus that could target, besides lung parenchyma, cardiovascular system, coagulation cascade or endothelial layer of blood vessels.

Published
2020
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