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1. Defining Kawasaki disease and pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection during SARS-CoV-2 epidemic in Italy: results from a national, multicenter survey

Author

Cattalini M, Della Paolera S, Zunica F, Bracaglia C, Giangreco M, Verdoni L, Meini A, Sottile R, Caorsi R, Zuccotti G, Fabi M, Montin D, Meneghel A, Consolaro A, Dellepiane RM, Maggio MC, La Torre F, Marchesi A, Simonini G, Villani A, Cimaz R, Ravelli A, Taddio A Maria Concetta Alberelli: UOC Pediatria, Marche-Nord, Clotilde Alizzi: Department of Health Promotion Sciences Maternal and Infantile Care, Internal Medicine and Medical Specialities 'G. D’Alessandro', University of Palermo, Palermo Italy, Patrizia Barone: Unità Operativa Complessa di Broncopneumologia Pediatrica AOU 'Policlinico - Vittorio Emanuele Via Santa Sofia 78 Catania, Lucia Augusta Baselli: Pediatric Intermediate Care Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan Italy, Veronica Bennato: U. O. Pediatria, Ospedale A, Manzoni Lecco, Francesca Biscaro: UOC Pediatria, Ospedale Ca’ Foncello, Treviso, Grazia Bossi: UOC Pediatria, Fondazione IRCCS Policlinico San Matteo, Pavia Italy, Andrea Campana: Bambino Gesù Children’s Hospital, Rome Italy, Maurizio Carone: UO Malattie Infettive, Ospedale Pediatrico ‘Giovanni XXIII’, Bari Italy, Adele Civino: U. O. C. Pediatria P. O. Vito Fazzi, Lecce, Giovanni Conti: Nefrologia e Reumatologia Pediatrica con Dialisi, Azienda Ospedaliero-Universitario 'G. Martino', Eleonora Dei Rossi: University of Trieste, Trieste Italy, Emanuela Del Giudice: Department of Maternal Infantile and Urological Sciences, Sapeinza University of Rome, Polo Pontini, Alice Dell’Anna: U. O. C. Pediatria P. O. Vito Fazzi Lecce, Maia De Luca: Bambino Gesù Children’s Hospital, Piazza S. Onofrio n. 4, 00165 Rome, Italy, Enrico Felici: Pediatric and Pediatric Emergency Unit, The Children Hospital, AO SS Antonio e Biago e C. Arrigo, Alessandria Italy, Giovanni Filocamo: Fondazione IRCCS Cà Granda, Ospedale Maggiore Policlinico, Milano, Ilenia Floretta: Pediatria, Ospedale Santa Chiara, Trento Italy, Maria Loreta Foschini: SC Pediatria, PO SAN MICHELE AOBrotzu, Cagliari Italy, Marcello Lanari: Department of Pediatrics, University of Bologna, IRCCS S. Orsola-Malpighi Hospital, Bologna Italy, Bianca Lattanzi: SOD Pediatria, Ospedali Riuniti, Ancona Italy, Alessandra Lazzerotti: Clinica Pediatrica, Università Milano Bicocca, Fondazione MBBM - onlus c/o Ospedale San Gerardo, Monza Italy, Francesco Licciardi: Department of Pediatrics and Public Health, University of Turin, Turin Italy, Alessandra Manerba: Child Cardiology, ASST Spedali Civili di Brescia and University of Brescia, Brescia Italy, Savina Mannarino: Division of Cardiology, Children’s Hospital V Buzzi, ASST FBF Sacco, Achille Marino: Department of Pediatrics, Desio Hospital, ASST Monza, Desio Italy, Agostina Marolda: Pediatrics and Neonatology Dipartment, ASST Ovest Milanese, 'G. Fornaroli' Hospital, Magenta Milan, Laura Martelli: Paediatric Department, Hospital Papa Giovanni XXIII, Bergamo Italy, Giorgia Martini, Department of Woman’s and Child’s Health, University of Padova, Padua Italy, Angela Mauro: Department of Paediatrics, Emergency Department, Santobono-Pausilipon Children’s Hospital, Naples, Italy. Maria Vincenza Mastrolia: Pediatric Rheumatology Unit, AOU Meyer, University of Florence, Florence, Italy. Angelo Mazza: Paediatric Department, Angela Miniaci: Clinica Pediatrica, Reumatologia, Azienda Ospedaliero-Universitaria di Bologna, Francesca Minoia: Fondazione IRCCS Cà Granda, Alma Olivieri: Dipartimento della donna, del bambino e di chirurgia generale e specialistica, Università della Campania, 'L Vanvitelli, Napoli, Guido Pennoni: Dipartimento Materno-Infantile, Gubbio-Gualdo Tadino, Italy, Rossana Pignataro: UOC Pediatria e Neonatologia, ASST Lodi, Lodi, Francesca Ricci, Clinica Pediatrica, ASST Spedali Civili di Brescia e Università degli Studi di Brescia, Donato Rigante: Department of Pediatrics, Univarsità Cattolica Sacro Cuore, Matilde Rossi: UOC di Pediatrai e Neonatologia, Ospedale di Macerata, Macerata, Claudia Santagati: Dipartimento di Pediatria, Ospedale di Rovigo, Rovigo, Martina Soliani: Pediatria ASST Cremona, Italy, Silvia Sonego: University of Trieste, Domenico Sperlì: UOC di Pediatria, S. O. 'Annunziata' - A. O. di Cosenza, Sara Stucchi: Maternal and Child Health, Division of Paediatrics, ASST Grande Ospedale Metropolitano Niguarda, Milano Italy, Barbara Teruzzi: Maternal and Child Health, Elpidio Tierno: UOC di Pediatria, Dipartimento della Salute della Donna e del Bambin, AORN 'Sant’Anna e San Sebastiano'- Caserta, Tatiana Utytatnikova: Dipartimento Materno-Infantile, Pediatria, ASST Bergamo-EST, Seriate Bergamo, Piero Valentini, Department of Pediatrics, Gianluca Vergine, UOC Pediatria Rimini, Ospedale Infermi, ASL Romagna, Rimini Italy., Cattalini, Marco, Della Paolera, Sara, Zunica, Fiammetta, Bracaglia, Claudia, Giangreco, Manuela, Verdoni, Lucio, Meini, Antonella, Sottile, Rita, Caorsi, Roberta, Zuccotti, Gianvincenzo, Fabi, Marianna, Montin, Davide, Meneghel, Alessandra, Consolaro, Alessandro, Dellepiane, Rosa Maria, Maggio, Maria Cristina, La Torre, Francesco, Marchesi, Alessandra, Simonini, Gabriele, Villani, Alberto, Cimaz, Rolando, Ravelli, Angelo, Taddio, Andrea, Cattalini, M, Della Paolera, S, Zunica, F, Bracaglia, C, Giangreco, M, Verdoni, L, Meini, A, Sottile, R, Caorsi, R, Zuccotti, G, Fabi, M, Montin, D, Meneghel, A, Consolaro, A, Dellepiane, Rm, Maggio, Mc, La Torre, F, Marchesi, A, Simonini, G, Villani, A, Cimaz, R, Ravelli, A, Taddio, A Maria Concetta Alberelli: UOC Pediatria, Marche-Nord, Clotilde Alizzi: Department of Health Promotion Sciences Maternal and Infantile, Care, Internal Medicine and Medical Specialities 'G., D’Alessandro', University of, Palermo, Palermo, Italy, Patrizia Barone: Unità Operativa Complessa di Broncopneumologia Pediatrica AOU 'Policlinico, - Vittorio Emanuele Via Santa Sofia 78 Catania, Lucia Augusta Baselli: Pediatric Intermediate Care, Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore, Policlinico, Milan, Italy, Veronica Bennato: U. O., Pediatria, Ospedale, A, Manzoni, Lecco, Francesca Biscaro: UOC, Pediatria, Ospedale Ca’, Foncello, Treviso, Grazia Bossi: UOC, Pediatria, Fondazione IRCCS Policlinico San, Matteo, Pavia, Italy, Andrea Campana: Bambino Gesù Children’s, Hospital, Rome, Italy, Maurizio Carone: UO Malattie, Infettive, Ospedale Pediatrico ‘Giovanni, Xxiii’, Bari, Italy, Adele Civino: U. O. C. Pediatria P. O. Vito Fazzi, Lecce, Giovanni Conti: Nefrologia e Reumatologia Pediatrica con Dialisi, Azienda Ospedaliero-Universitario 'G. Martino', Eleonora Dei Rossi: University of, Trieste, Trieste, Italy, Emanuela Del Giudice: Department of Maternal Infantile and Urological, Science, Sapeinza University of, Rome, Polo, Pontini, Alice Dell’Anna: U. O. C. Pediatria P. O., Vito Fazzi Lecce, Maia De Luca: Bambino Gesù Children’s, Hospital, Piazza, S. Onofrio n. 4., 00165, Rome, Italy, Enrico Felici: Pediatric and Pediatric Emergency, Unit, The Children, Hospital, AO SS Antonio e Biago e C., Arrigo, Alessandria, Italy, Giovanni Filocamo: Fondazione IRCCS Cà, Granda, Ospedale Maggiore, Policlinico, Milano, Ilenia Floretta:, Pediatria, Ospedale Santa, Chiara, Trento, Italy, Maria Loreta Foschini: SC, Pediatria, PO SAN MICHELE, Aobrotzu, Cagliari, Italy, Marcello Lanari: Department of, Pediatric, University of, Bologna, IRCCS S., Orsola-Malpighi Hospital, Bologna, Italy, Bianca Lattanzi: SOD, Pediatria, Ospedali, Riuniti, Ancona, Italy, Alessandra Lazzerotti: Clinica, Pediatrica, Università Milano, Bicocca, Fondazione MBBM, - onlus c/o Ospedale San Gerardo, Monza, Italy, Francesco Licciardi: Department of Pediatrics and Public, Health, University of, Turin, Turin, Italy, Alessandra Manerba: Child, Cardiology, ASST Spedali Civili di Brescia and University of, Brescia, Brescia, Italy, Savina Mannarino: Division of, Cardiology, Children’s Hospital, V Buzzi, ASST FBF, Sacco, Achille Marino: Department of, Pediatric, Desio, Hospital, Asst, Monza, Desio, Italy, Agostina Marolda: Pediatrics and Neonatology, Dipartment, ASST Ovest, Milanese, 'G., Fornaroli' Hospital, Magenta, Milan, Laura Martelli: Paediatric, Department, Hospital Papa Giovanni, Xxiii, Bergamo, Italy, Giorgia, Martini, Department of Woman’s and Child’s, Health, University of, Padova, Padua, Italy, Angela Mauro: Department of, Paediatric, Emergency, Department, Santobono-Pausilipon Children’s, Hospital, Naples, Italy., Maria Vincenza Mastrolia: Pediatric Rheumatology Unit, Aou, Meyer, University of, Florence, Florence, Italy., Angelo Mazza: Paediatric Department, Angela Miniaci: Clinica, Pediatrica, Reumatologia, Azienda Ospedaliero-Universitaria di, Bologna, Francesca Minoia: Fondazione IRCCS Cà, Granda, Alma Olivieri: Dipartimento della, Donna, del bambino e di chirurgia generale, e specialistica, Università della, Campania, 'L, Vanvitelli, Napoli, Claudio, Guido Pennoni: Dipartimento, Materno-Infantile, Gubbio-Gualdo Tadino, Italy, Rossana Pignataro: UOC Pediatria, e Neonatologia, Asst, Lodi, Lodi, Francesca, Ricci, Clinica, Pediatrica, ASST Spedali Civili di Brescia, e Università degli Studi di Brescia, Donato Rigante: Department of, Pediatric, Univarsità Cattolica Sacro, Cuore, Matilde Rossi: UOC di Pediatrai, e Neonatologia, Ospedale di, Macerata, Macerata, Claudia Santagati: Dipartimento di, Pediatria, Ospedale di, Rovigo, Rovigo, Martina Soliani: Pediatria ASST Cremona, Italy, Silvia Sonego: University of, Trieste, Domenico Sperlì: UOC di Pediatria, S. O. 'Annunziata' - A. O. di Cosenza, Sara Stucchi: Maternal and Child, Health, Division of, Paediatric, ASST Grande Ospedale Metropolitano, Niguarda, Milano, Italy, Barbara Teruzzi: Maternal and Child, Health, Elpidio Tierno: UOC di, Pediatria, Dipartimento della Salute della Donna, e del Bambin, AORN 'Sant’Anna, e San Sebastiano'- Caserta, Tatiana Utytatnikova: Dipartimento, Materno-Infantile, Pediatria, Asst, Bergamo-EST, Seriate, Bergamo, Piero, Valentini, Department of, Pediatric, Gianluca, Vergine, UOC Pediatria, Rimini, Ospedale, Infermi, Asl, Romagna, Rimini, Italy., Cattalini M., Della Paolera S., Zunica F., Bracaglia C., Giangreco M., Verdoni L., Meini A., Sottile R., Caorsi R., Zuccotti G., Fabi M., Montin D., Meneghel A., Consolaro A., Dellepiane R.M., Maggio M.C., La Torre F., Marchesi A., Simonini G., Villani A., Cimaz R., Ravelli A., Taddio A., Adamoli P., Alberelli M.C., Alizzi C., Barone P., Bennato V., Biscaro F., Bossi G., Campana A., Carone M., Civino A., Conti G., Rossi E.D., Del Giudice E., Dell'Anna A., De Luca M., Felici E., Filocamo G., Floretta I., Foschini M.L., Lanari M., Lattanzi B., Lazzerotti A., Licciardi F., Manerba A., Mannarino S., Marino A., Marolda A., Martelli L., Martini G., Mauro A., Mastrolia M.V., Mazza A., Miniaci A., Minoia F., Olivieri A., Pennoni G., Pignataro R., Ricci F., Rigante D., Rossi M., Santagati C., Soliani M., Sonego S., Sperli D., Stucchi S., Teruzzi B., Tierno E., Utytatnikova T., Valentini P., and Vergine G.

Subjects
Coronary artery abnormalities, Hypotension, Kawasaki disease, Multisystem inflammatory syndrome associated with coronavirus disease, Myocarditis, Pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection, SARS-CoV-2, Age Distribution, Antirheumatic Agents, Aspirin, C-Reactive Protein, COVID-19, Child, Child, Preschool, Coronary Artery Disease, Cough, Diarrhea, Dyspnea, Female, Glucocorticoids, Heart Failure, Humans, Hyperferritinemia, Immunoglobulins, Intravenous, Immunologic Factors, Infant, Intensive Care Units, Pediatric, Interleukin 1 Receptor Antagonist Protein, Italy, Lymphopenia, Male, Mucocutaneous Lymph Node Syndrome, Platelet Aggregation Inhibitors, Shock, Systemic Inflammatory Response Syndrome, Tachypnea, Troponin T, Vomiting, lcsh:Diseases of the musculoskeletal system, coronary artery abnormalities, hypotension, kawasaki disease, multisystem inflammatory syndrome associated with coronavirus disease, myocarditis, pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection, age distribution, antirheumatic agents, aspirin, C-reactive protein, child, preschool, coronary artery disease, cough, diarrhea, yspnea, female, glucocorticoids, heart failure, humans, hyperferritinemia, immunoglobulins, intravenous, immunologic factors, infant, intensive care units, pediatric, interleukin 1 receptor antagonist protein, italy, lymphopenia, male, mucocutaneous lymph node syndrome, platelet aggregation inhibitors, shock, systemic inflammatory response syndrome, tachypnea, troponin T, vomiting, Myocarditi, 030204 cardiovascular system & hematology, SARS-CoV-2, Kawasaki disease, Pediatric inflammatory multisystem syndrome-temporally associated to SARS-CoV-2 infection, Myocarditis, Hypotension, Multisystem inflammatory syndrome associated with coronavirus disease, Coronary artery abnormalities, Coronary artery disease, Settore MED/38 - Pediatria Generale E Specialistica, 0302 clinical medicine, Glucocorticoid, Immunologic Factor, Immunology and Allergy, Coronary artery abnormalitie, Fisher's exact test, Pediatric, biology, lcsh:RJ1-570, Antirheumatic Agent, Settore MED/38, Intensive Care Units, Cohort, symbols, Platelet aggregation inhibitor, Intravenous, Human, Research Article, medicine.medical_specialty, Immunoglobulins, 03 medical and health sciences, symbols.namesake, Rheumatology, Internal medicine, medicine, Preschool, 030203 arthritis & rheumatology, business.industry, Platelet Aggregation Inhibitor, lcsh:Pediatrics, medicine.disease, Systemic inflammatory response syndrome, Immunoglobulins, Intravenou, Pediatrics, Perinatology and Child Health, biology.protein, lcsh:RC925-935, business
Abstract

Background There is mounting evidence on the existence of a Pediatric Inflammatory Multisystem Syndrome-temporally associated to SARS-CoV-2 infection (PIMS-TS), sharing similarities with Kawasaki Disease (KD). The main outcome of the study were to better characterize the clinical features and the treatment response of PIMS-TS and to explore its relationship with KD determining whether KD and PIMS are two distinct entities. Methods The Rheumatology Study Group of the Italian Pediatric Society launched a survey to enroll patients diagnosed with KD (Kawasaki Disease Group – KDG) or KD-like (Kawacovid Group - KCG) disease between February 1st 2020, and May 31st 2020. Demographic, clinical, laboratory data, treatment information, and patients’ outcome were collected in an online anonymized database (RedCAP®). Relationship between clinical presentation and SARS-CoV-2 infection was also taken into account. Moreover, clinical characteristics of KDG during SARS-CoV-2 epidemic (KDG-CoV2) were compared to Kawasaki Disease patients (KDG-Historical) seen in three different Italian tertiary pediatric hospitals (Institute for Maternal and Child Health, IRCCS “Burlo Garofolo”, Trieste; AOU Meyer, Florence; IRCCS Istituto Giannina Gaslini, Genoa) from January 1st 2000 to December 31st 2019. Chi square test or exact Fisher test and non-parametric Wilcoxon Mann-Whitney test were used to study differences between two groups. Results One-hundred-forty-nine cases were enrolled, (96 KDG and 53 KCG). KCG children were significantly older and presented more frequently from gastrointestinal and respiratory involvement. Cardiac involvement was more common in KCG, with 60,4% of patients with myocarditis. 37,8% of patients among KCG presented hypotension/non-cardiogenic shock. Coronary artery abnormalities (CAA) were more common in the KDG. The risk of ICU admission were higher in KCG. Lymphopenia, higher CRP levels, elevated ferritin and troponin-T characterized KCG. KDG received more frequently immunoglobulins (IVIG) and acetylsalicylic acid (ASA) (81,3% vs 66%; p = 0.04 and 71,9% vs 43,4%; p = 0.001 respectively) as KCG more often received glucocorticoids (56,6% vs 14,6%; p Conclusion Our study suggests that SARS-CoV-2 infection might determine two distinct inflammatory diseases in children: KD and PIMS-TS. Older age at onset and clinical peculiarities like the occurrence of myocarditis characterize this multi-inflammatory syndrome. Our patients had an optimal response to treatments and a good outcome, with few complications and no deaths.

Published
2020

2. 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

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

Author

Fabrizio De Benedetti, Jurgen Sota, M Pardeo, Giuseppe Lopalco, Carlo Salvarani, Maria Cristina Maggio, Claudia Fabiani, Marco Cattalini, Claudia Bracaglia, Luca Cantarini, Francesco La Torre, Romina Gallizzi, Salvatore Grosso, Maria Alessio, Alma Nunzia Olivieri, Antonella Insalaco, Paolo Sfriso, Carla Gaggiano, Donato Rigante, Rolando Cimaz, Sota, J, Insalaco, A, Cimaz, R, Alessio, M, Cattalini, M, Gallizzi, R, Maggio, Mc, Lopalco, G, La Torre, F, Pardeo, M, Olivieri, An, Sfriso, P, Salvarini, C, Gaggiano, C, Grosso, S, Bracaglia, C, De Benedetti, F, Rigante, D, Cantarini, L., Sota, Jurgen, Insalaco, Antonella, Cimaz, Rolando, Alessio, Maria, Cattalini, Marco, Gallizzi, Romina, Maggio, Maria Cristina, Lopalco, Giuseppe, Torre, Francesco La, Fabiani, Claudia, Pardeo, Manuela, Olivieri, Alma Nunzia, Sfriso, Paolo, Salvarani, Carlo, Gaggiano, Carla, Grosso, Salvatore, Bracaglia, Claudia, De Benedetti, Fabrizio, Rigante, Donato, Cantarini, Luca, Carla Gaggiano, 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,Salvatore Grosso, Claudia Bracaglia, Fabrizio De Benedetti, Donato Rigante, Luca Cantarini, Sota, J., Insalaco, A., Cimaz, R., Alessio, M., Cattalini, M., Gallizzi, R., Maggio, M. C., Lopalco, G., Torre, F. L., Fabiani, C., Pardeo, M., Olivieri, A. N., Sfriso, P., Salvarani, C., Gaggiano, C., Grosso, S., Bracaglia, C., De Benedetti, F., and Rigante, D.

Subjects
0301 basic medicine, Drug, medicine.medical_specialty, systemic juvenile idiopathic arthritis, media_common.quotation_subject, Arthritis, anakinra, canakinumab, drug retention rate, interleukin 1-beta, therapy, 03 medical and health sciences, Settore MED/38 - Pediatria Generale E Specialistica, 0302 clinical medicine, Interleukin-1 inhibitors, Systemic Juvenile Idiopathic Arthritis, Anakinra, Canakinumab, Internal medicine, Medicine, Pharmacology (medical), Adverse effect, media_common, Original Research, Pharmacology, Anakinra, Anakinra, Canakinumab, Drug retention rate, Interleukin 1-beta, Systemic juvenile idiopathic arthritis, Therapy, business.industry, lcsh:RM1-950, Hazard ratio, Interleukin, Juvenile idiopathic arthritis, Retention rate, medicine.disease, Canakinumab, lcsh:Therapeutics. Pharmacology, 030104 developmental biology, 030220 oncology & carcinogenesis, Systemic juvenile idiopathic arthriti, business, medicine.drug
Abstract

Introduction: The advent of biologic agents has revolutionized therapeutic approaches in systemic juvenile idiopatic arthritis (sJIA) as their introduction has been shown to modify disease course and improve overall outcomes, particularly when initiated early. Few studies have reported the drug retention rate (DRR) of biologic drugs in JIA, and none of them has specifically investigated the DRR of interleukin (IL)-1 inhibitors on sJIA. Objectives: The primary aim of the study was to examine the overall DRR of IL-1 blockers in sJIA patients. Secondary aims of our study were to: (i) explore the influence of biologic line of treatment, adverse events (AEs), type of anti-IL-1 agent and the concomitant use of conventional disease modifying anti-rheumatic drugs (cDMARDs) on DRR; (ii) find eventual predictive factors associated with events leading to drug discontinuation. The corticosteroid sparing effect and the impact of disease duration and treatment delay on survival constituted ancillary aims. Methods: sJIA patients – diagnosed according to the revised International League of Association for Rheumatology (ILAR) criteria – treated with anakinra (ANA) and canakinumab (CAN) were enrolled in 15 Italian tertiary referral centers. Demographic, clinical and therapeutic data collected from medical records were retrospectively collected and statistically analyzed. 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 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). Conclusion: 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
2018

4. Childhood multisystem inflammatory syndrome associated with COVID-19 (MIS-C): a diagnostic and treatment guidance from the Rheumatology Study Group of the Italian Society of Pediatrics

Author

Marco Cattalini, Andrea Taddio, Claudia Bracaglia, Rolando Cimaz, Sara Della Paolera, Giovanni Filocamo, Francesco La Torre, Bianca Lattanzi, Alessandra Marchesi, Gabriele Simonini, Gianvincenzo Zuccotti, Fiammetta Zunica, Alberto Villani, Angelo Ravelli, on behalf of the Rheumatology Study Group of the Italian Society of Pediatrics, Cattalini, M., Taddio, A., Bracaglia, C., Cimaz, R., Paolera, S. D., Filocamo, G., La Torre, F., Lattanzi, B., Marchesi, A., Simonini, G., Zuccotti, G., Zunica, F., Villani, A., and Ravelli, A.

Subjects
Male, medicine.medical_specialty, Pediatrics, Debate, MEDLINE, Disease, 030204 cardiovascular system & hematology, 03 medical and health sciences, Therapeutic approach, 0302 clinical medicine, Internal medicine, medicine, Humans, 030212 general & internal medicine, Child, Aspirin, business.industry, lcsh:RJ1-570, COVID-19, lcsh:Pediatrics, Guideline, Evidence-based medicine, medicine.disease, Settore MED/38, Rheumatology, Female, Italy, Systemic Inflammatory Response Syndrome, Systemic inflammatory response syndrome, business, Human, medicine.drug
Abstract

Background Italy was the first Western country to be hit by the SARS-CoV-2 epidemic. There is now mounting evidence that a minority of children infected with SARS-CoV2 may experience a severe multisystem inflammatory syndrome, called Multisystem inflammatory Syndrome associated with Coronavirus Disease 2019 (MIS-C). To date no universally agreed approach is available for this disease. Main body as Italy is now facing a second hity of COVID-19 cases, we fear a recrudescence of MIS-C cases. We have, therefore, decided to prepare a report that will help clinicians to face this novel and challenging disease. We propose a diagnostic algorithm, to help case definition and guide work-up, and a therapeutic approach. MIS-C should be promptly recognized, based on the presence of systemic inflammation and specific organ involvement. Early treatment is crucial, and it will be based on the combined use of corticosteroids, high-dose immunoglobulins and anti-cytokine treatments, depending on the severity of the disease. Ancillary treatments (such as. aspirin and thrombo-profilaxis) will be also discussed. Conclusions we propose a document that will help physicians to diagnose and treat MIS-C patients. Given the level of evidence available and the methodology used, this document should not be interpreted as a guideline; the final decision about the optimal management should still be taken by the caring physician, on an individual basis.

Published
2021

5. Prognostic Factors and Long-Term Outcome with ANCA-Associated Kidney Vasculitis in Childhood

Author

Paola Romagnani, Laura Fortunato, Elena Oliva, Leonardo Tomei, Giovanni Montini, Davide Gianfreda, Claudia Bracaglia, Giacomo Emmi, Salvatore Badalamenti, Marta Calatroni, Elena Gelain, Pasquale Esposito, Monica Bodria, Augusto Vaglio, Giovanni Maria Rossi, Sara Monti, Guido Jeannin, Chiara Salviani, Natasha A. Jawa, Marco Materassi, Giulia Marucci, Rae S. M. Yeung, Gabriella Moroni, Damien Noone, Maria Grazia Catanoso, Enrico Tombetti, Rosa Maria Roperto, Filippo Consonni, Susanna Fiasella, Renato Alberto Sinico, Sarah Abu Rumeileh, Gian M. Ghiggeri, Barbara Crapella, Dritan Curi, Serena Pastore, Alessandra Bettiol, Enrica Bozzolo, Giuseppe A. Ramirez, Marco Allinovi, Calatroni, M, Consonni, F, Allinovi, M, Bettiol, A, Jawa, N, Fiasella, S, Curi, D, Abu-Rumeileh, S, Tomei, L, Fortunato, L, Gelain, E, Gianfreda, D, Oliva, E, Jeannin, G, Salviani, C, Emmi, G, Bodria, M, Sinico, R, Moroni, G, Ramirez, G, Bozzolo, E, Tombetti, E, Monti, S, Bracaglia, C, Marucci, G, Pastore, S, Esposito, P, Catanoso, M, Crapella, B, Montini, G, Roperto, R, Materassi, M, Rossi, G, Badalamenti, S, Yeung, R, Romagnani, P, Ghiggeri, G, Noone, D, and Vaglio, A

Subjects
Male, Time Factors, Epidemiology, 030232 urology & nephrology, Microscopic Polyangiitis, Critical Care and Intensive Care Medicine, Gastroenterology, vasculitis, 0302 clinical medicine, Glomerulonephritis, Interquartile range, Recurrence, Risk Factors, ANCA, vasculitis, pediatric nephrology, glomerulopathy, Antineutrophil, cytoplasmic antibody, antineutrophil cytoplasmic antibody, Child, medicine.diagnostic_test, ANCA, Hazard ratio, Induction Chemotherapy, Prognosis, Nephrology, Disease Progression, Female, Vasculitis, Microscopic polyangiitis, Granulomatosis with polyangiitis, Immunosuppressive Agents, Glomerular Filtration Rate, medicine.medical_specialty, Adolescent, glomerulopathy, Article, 03 medical and health sciences, pediatric nephrology, Renal Dialysis, Internal medicine, Biopsy, medicine, Humans, Glucocorticoids, Anti-neutrophil cytoplasmic antibody, Retrospective Studies, 030203 arthritis & rheumatology, Transplantation, business.industry, Granulomatosis with Polyangiitis, Retrospective cohort study, medicine.disease, Kidney Failure, Chronic, business
Abstract

Background and objectives ANCA-associated vasculitis is extremely rare in children. We report the clinicopathologic features, long-term outcomes, and prognostic factors of a large pediatric cohort of patients with ANCA-associated kidney vasculitis. Design, setting, participants, & measurements This retrospective study included 85 consecutive patients with kidney biopsy specimen–proven ANCA-associated vasculitis from tertiary referral centers in Italy and Canada. Kidney biopsy specimens were categorized as focal, crescentic, sclerotic, or mixed, according to the Berden classification. The prognostic significance of baseline clinical, laboratory, and histologic findings was analyzed with respect to kidney failure or CKD stage 3–5/kidney failure. Results A total of 53 patients had microscopic polyangiitis (62%), and 32 had granulomatosis with polyangiitis (38%). Rapidly progressive GN was the most frequent presentation (39%); a third of the patients also had nephrotic-range proteinuria. Kidney biopsy specimens were classified as focal in 21% of the patients, crescentic in 51%, sclerotic in 15%, and mixed in 13%. Remission-induction therapies included cyclophosphamide in 78% of patients. A total of 25 patients (29%) reached kidney failure. The median (interquartile range) time to kidney failure or last follow-up was 35 (6–89) months in the whole cohort, and 73 (24–109) months among the patients who did not reach this outcome. Patients whose biopsy specimens showed sclerotic histology had significantly shorter kidney survival (hazard ratio, 11.80; 95% confidence interval, 2.49 to 55.99) and survival free of CKD stage 3–5 (hazard ratio, 8.88; 95% confidence interval, 2.43 to 32.48), as compared with those with focal/mixed histology. Baseline eGFR, low serum albumin, hypertension, central nervous system complications, and sclerotic histology, which reflected severe kidney involvement, were associated with both kidney failure and CKD stage 3–5/kidney failure at unadjusted analysis; no independent prognostic factors emerged at multivariable analysis. Conclusions Children with ANCA-associated kidney vasculitis often have aggressive presentation; a third of such children progress to kidney failure and this usually occurs early during follow-up. A severe clinical presentation is associated with the development of CKD or kidney failure.

Published
2021

6. Development and initial validation of a composite disease activity score for systemic juvenile idiopathic arthritis

Author

Angela Pistorio, Waleed A. Hassan, Giovanni Conti, Adele Civino, Raed Alzyoud, Jutamas Yamsuwan, Elena Aldera, Claudia Bracaglia, Laura Puzone, Priyankar Pal, Sumidha Mittal, Hala M. Lotfy, Raju Khubchandani, Angelo Ravelli, Enrico Felici, Gabriella Giancane, Maria Cristina Maggio, Ghada Farouk Elderiny, Tapas K Sabui, Giovanni Filocamo, Rolando Cimaz, Soamarat Vilaiyuk, M Pardeo, Sulaiman M. Al-Mayouf, Claudia Saad Magalhães, I.A. Chikova, Yomna Farag, Flavio Sztajnbok, Pallavi Pimpale Chavan, Romina Gallizzi, S.I. Nasef, Masaki Shimizu, T. Dvoryakovskaya, Mervat Eissa, Mohammed Hassan Abu-Zaid, Ekaterina Alexeeva, Butsabong Lerkvaleekul, Pragati Datta, Hriday De, Prabhas Prasun Giri, Nicolino Ruperto, Alessandro Consolaro, Ricardo Russo, Yasser El Miedany, Francesca Minoia, Mikhail Kostik, Jessica Tibaldi, Edoardo Marrani, Sujata Sawhney, MM Katsicas, Motasem O. Alsuweiti, Fernanda Cardoso das Neves Sztajnbok, IRCCS Istituto Giannina Gaslini, Università degli Studi di Genova, Ain Shams University, Institute of Child Health, SRCC Children's Hospital, Mahidol University, R G Kar Medical College, IRCCS Ospedale Pediatrico Bambino Gesù, Sir Ganga Ram Hospital, Benha University, Alexandria University, Tanta University, Cairo University, Universidade do Estado do Rio de Janeiro (UERJ), Universidade Federal do Rio de Janeiro (UFRJ), Hospital de Pediatría Garrahan, University of Milan, University Hospital Meyer, National Medical Research Center of Children's Health, Sechenov First Moscow State Medical University, Queen Rania Children's Hospital, Saint-Petersburg State Pediatric Medical University, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Suez Canal University, King Faisal Specialist Hospital and Research Center, Università degli Studi di Palermo, Universidade Estadual Paulista (Unesp), Azienda Ospedaliera Universitaria Gaetano Martino Messina, Azienda Ospedaliera Universitaria Gaetano Martino, Kanazawa University, Ospedale Vito Fazzi, AON SS Antonio e Biagio e Cesare Arrigo Children's Hospital, Tibaldi J., Pistorio A., Aldera E., Puzone L., El Miedany Y., Pal P., Giri P.P., De H., Khubchandani R., Chavan P.P., Vilaiyuk S., Lerkvaleekul B., Yamsuwan J., Sabui T.K., Datta P., Pardeo M., Bracaglia C., Sawhney S., Mittal S., Hassan W.A., Elderiny G.F., Abu-Zaid M.H., Eissa M., Sztajnbok F., das Neves Sztajnbok F.C., Russo R., Katsicas M.M., Cimaz R., Marrani E., Alexeeva E., Dvoryakovskaya T.M., Alsuweiti M.O., Alzyoud R.M., Kostik M., Chikova I., Minoia F., Filocamo G., Farag Y., Lotfy H., Nasef S.I., Al-Mayouf S.M., Maggio M.C., Magalhaes C.S., Gallizzi R., Conti G., Shimizu M., Civino A., Felici E., Giancane G., Ruperto N., Consolaro A., and Ravelli A.

Subjects
Male, Clinical assessment, Composite disease activity score, Disease activity, Outcome measures, Pediatric rheumatology, Still's disease, Systemic juvenile idiopathic arthritis, medicine.medical_specialty, Fever, Arthritis, Lymphadenopathy, Disease, Severity of Illness Index, Outcome measure, Juvenile Arthritis Disease Activity Score, Rheumatology, Cronbach's alpha, Internal medicine, Content validity, Medicine, Juvenile, Humans, Pharmacology (medical), Range of Motion, Articular, Child, Pain Measurement, Serositis, Thrombocytosis, business.industry, Construct validity, Reproducibility of Results, Anemia, Exanthema, medicine.disease, Arthralgia, Arthritis, Juvenile, Child, Preschool, Splenomegaly, Quality of Life, Female, Hyperferritinemia, business, Hepatomegaly
Abstract

Made available in DSpace on 2021-06-25T10:38:01Z (GMT). No. of bitstreams: 0 Previous issue date: 2020-11-01 Healthway Objective. To develop a composite disease activity score for systemic JIA (sJIA) and to provide preliminary evidence of its validity. Methods. The systemic Juvenile Arthritis Disease Activity Score (sJADAS) was constructed by adding to the four items of the original JADAS a fifth item that aimed to quantify the activity of systemic features. Validation analyses were conducted on patients with definite or probable/possible sJIA enrolled at first visit or at the time of a flare, who had active systemic manifestations, which should include fever. Patients were reassessed 2 weeks to 3 months after baseline. Three versions were examined, including ESR, CRP or no acute-phase reactant. Results. A total of 163 patients were included at 30 centres in 10 countries. The sJADAS was found to be feasible and to possess face and content validity, good construct validity, satisfactory internal consistency (Cronbach's alpha 0.64-0.65), fair ability to discriminate between patients with different disease activity states and between those whose parents were satisfied or not satisfied with illness outcome (P < 0.0001 for both), and strong responsiveness to change over time (standardized response mean 2.04-2.58). Overall, these properties were found to be better than those of the original JADAS and of DAS for RA and of Puchot score for adult-onset Still's disease. Conclusion. The sJADAS showed good measurement properties and is therefore a valid instrument for the assessment of disease activity in children with sJIA. The performance of the new tool should be further examined in other patient cohorts that are evaluated prospectively. UOC Clinica Pediatrica e Reumatologia IRCCS Istituto Giannina Gaslini Dipartimento di Neuroscienze Riabilitazione Oftalmologia Genetica e Scienze Materno-Infantili (DiNOGMI) Università degli Studi di Genova Dipartimento di Epidemiologia e Biostatistica IRCCS Istituto Giannina Gaslini Faculty of Medicine Ain Shams University Pediatric Rheumatology Division Institute of Child Health Section of Pediatric Rheumatology SRCC Children's Hospital Rheumatology Division Pediatric Department Faculty of Medicine Ramathibodi Hospital Mahidol University Pediatric Rheumatology Clinic R G Kar Medical College Division of Rheumatology IRCCS Ospedale Pediatrico Bambino Gesù Division of Pediatric Rheumatology Institute of Child Health Sir Ganga Ram Hospital Faculty of Medicine Benha University Faculty of Medicine Alexandria University Faculty of Medicine Tanta University Faculty of Medicine Cairo University Pediatric Rheumatology Division Adolescent Health Care Unit Universidade do Estado do Rio de Janeiro Department of Internal Medicine Universidade Federal do Rio de Janeiro Servicio de Inmunología y Reumatología Hospital de Pediatría Garrahan Department of Clinical Sciences and Community Health University of Milan Division of Rheumatology University Hospital Meyer Rheumatology Division National Medical Research Center of Children's Health Sechenov First Moscow State Medical University Department of Immunology Rheumatology and Allergy Queen Rania Children's Hospital Saint-Petersburg State Pediatric Medical University UOC Pediatria a Media Intensità di Cure Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Rheumatology Department Faculty of Medicine Suez Canal University Department of Pediatrics King Faisal Specialist Hospital and Research Center Dipartimento Promise G. D'Alessandro Università degli Studi di Palermo Pediatric Department Hospital das Clínicas Botucatu Medicine University UNESP UOC Pediatria Servizio di Immuno-Reumatologia Pediatrica Azienda Ospedaliera Universitaria Gaetano Martino Messina UO Nefrologia e Reumatologia Pediatrica Azienda Ospedaliera Universitaria Gaetano Martino Department of Pediatrics School of Medicine Institute of Medical Pharmaceutical and Health Sciences Kanazawa University Pediatric Unit Ospedale Vito Fazzi Pediatric Unit AON SS Antonio e Biagio e Cesare Arrigo Children's Hospital Pediatric Department Hospital das Clínicas Botucatu Medicine University UNESP

Published
2020

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

Author

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

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

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

Published
2019

8. ANCA-associated vasculitis in childhood: recent advances

Author

Elena Oliva, Davide Gianfreda, Enrica Bozzolo, Renato Alberto Sinico, Augusto Vaglio, Sara Monti, Pasquale Esposito, Giuseppe A. Ramirez, Giacomo Emmi, Marco Allinovi, Gabriella Moroni, Claudia Bracaglia, Giulia Marucci, Gina Gregorini, Alice Bonanni, Serena Pastore, Federico Pieruzzi, Giancarlo Barbano, Mariagrazia Catanoso, Marta Calatroni, Monica Bodria, Calatroni, M, Oliva, E, Gianfreda, D, Gregorini, G, Allinovi, M, Ramirez, G, Bozzolo, E, Monti, S, Bracaglia, C, Marucci, G, Bodria, M, Sinico, R, Pieruzzi, F, Moroni, G, Pastore, S, Emmi, G, Esposito, P, Catanoso, M, Barbano, G, Bonanni, A, and Vaglio, A

Subjects
Male, Pathology, Antineutrophil Cytoplasmic, Microscopic Polyangiitis, Autoimmunity, Review, Churg-Strauss Syndrome, medicine.disease_cause, Severity of Illness Index, 0302 clinical medicine, Glomerulonephritis, immune system diseases, Eosinophilic, 030212 general & internal medicine, Child, ANCA, Childhood, Renal failure, Vasculitis, Pediatrics, Perinatology and Child Health, Incidence, lcsh:RJ1-570, Survival Rate, Child, Preschool, Cohort, Female, Microscopic polyangiitis, Granulomatosis with polyangiitis, Cohort study, Vasculiti, medicine.medical_specialty, Anti-Neutrophil Cytoplasmic Antibody-Associated Vasculitis, Risk Assessment, Antibodies, Antibodies, Antineutrophil Cytoplasmic, 03 medical and health sciences, Age Distribution, Rare Diseases, medicine, Humans, cardiovascular diseases, Sex Distribution, Glomerulonephriti, Preschool, 030203 arthritis & rheumatology, business.industry, Granulomatosis with Polyangiitis, lcsh:Pediatrics, medicine.disease, business
Abstract

Anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitides are rare systemic diseases that usually occur in adulthood. They comprise granulomatosis with polyangiitis (GPA, Wegener’s), microscopic polyangiitis (MPA) and eosinophilic granulomatosis with polyangiitis (EGPA, Churg-Strauss syndrome). Their clinical presentation is often heterogeneous, with frequent involvement of the respiratory tract, the kidney, the skin and the joints. ANCA-associated vasculitis is rare in childhood but North-American and European cohort studies performed during the last decade have clarified their phenotype, patterns of renal involvement and their prognostic implications, and outcome. Herein, we review the main clinical and therapeutic aspects of childhood-onset ANCA-associated vasculitis, and provide preliminary data on demographic characteristics and organ manifestations of an Italian multicentre cohort.

Published
2017

9. Safety and efficacy of infliximab and adalimumab for refractory uveitis in juvenile idiopathic arthritis: 1-year followup data from the Italian Registry

Author

Irene Pontikaki, Stefania Viola, Maria Elisabetta Zannin, Rolando Cimaz, Carolina Birolo, Valeria Gerloni, Fabrizia Corona, Fabio Vittadello, Fulvio Parentin, Riccardo De Marco, Giorgia Martini, Francesco Zulian, Francesco La Torre, Maria Pia Paroli, Fernanda Falcini, Claudia Bracaglia, Elisabetta Miserocchi, Gabriele Simonini, Alison Shardlow, Luciana Breda, Zannin, Me, Birolo, C, Gerloni, Vm, Miserocchi, E, Pontikaki, I, Paroli, Mp, Bracaglia, C, Shardlow, A, Parentin, F, Cimaz, R, Simonini, G, Falcini, F, Corona, F, Viola, S, De Marco, R, Breda, L, La Torre, F, Vittadello, F, Martini, G, and Zulian, F

Subjects
Male, CHILDHOOD, Arthritis, Juvenile, CHILDREN, THERAPY, Monoclonal, Immunology and Allergy, Registries, Child, Humanized, Antibodies, Monoclonal, Anti-tumor necrosis factor agents, Juvenile idiopathic arthritis, Treatment, Uveitis, Adalimumab, Adolescent, Antibodies, Monoclonal, Humanized, Antirheumatic Agents, Arthritis, Juvenile, Child, Preschool, Female, Follow-Up Studies, Humans, Infant, Infliximab, Italy, Treatment Outcome, Tumor Necrosis Factor-alpha, Treatment efficacy, medicine.drug, medicine.medical_specialty, Immunology, Antibodies, Rheumatology, Refractory, Internal medicine, medicine, Adverse effect, Preschool, business.industry, medicine.disease, Dermatology, Surgery, uveitis, juvenile arthrtritis, ANTI-TUMOR NECROSIS FACTOR AGENTS, TREATMENT, RISK-FACTORS, Physical therapy, business
Abstract

Objective.To evaluate safety and efficacy of adalimumab (ADA) and infliximab (IFX) for the treatment of juvenile idiopathic arthritis-related anterior uveitis (JIA-AU).Methods.Starting January 2007, patients with JIA-AU treated with IFX and ADA were managed by a standard protocol and data were entered into the National Italian Registry (NIR). At baseline, all patients were refractory to standard immunosuppressive treatment and/or were corticosteroid-dependent. Data recorded every 3 months included uveitis course, number/type of ocular complications, drug-related adverse events (AE), treatment change or withdrawal, and laboratory measures. Data of patients treated for at least 1 year were retrieved from the NIR and analyzed using descriptive statistics. Treatment efficacy was based on change in uveitis course and in number of ocular complications.Results.Up to December 2009, data for 108 patients with JIA-AU treated with anti-tumor necrosis factor-α agents were recorded in the NIR and data from 91, with at least 12 months’ followup, were included in the study. Forty-eight patients were treated with IFX, 43 with ADA. Forty-seven patients (55.3%) achieved remission of AU, 28 (32.9%) had recurrent AU, and 10 (11.8%) maintained a chronic course. A higher remission rate was observed with ADA (67.4% vs 42.8% with IFX; p = 0.025). Ocular complications decreased from 0.47 to 0.32 per subject. Five patients experienced resolution of structural complications. No patient reported serious AE; 8 (8.8%) experienced 11 minor AE (9 with IFX, 2 with ADA).Conclusion.IFX and ADA appear to be effective and safe for treatment of refractory JIA-related uveitis, with a better performance of ADA in the medium-term period.

Published
2013

10. Prognostic impact of atypical presentation in pediatric systemic lupus erythematosus: results from a multicenter study

Author

Achille Stabile, Elisabetta Cortis, Anne Marie C. Brescia, Luca Ronfani, Loredana Lepore, Andrea Taddio, Alessandro Ventura, Elena Rossetto, Claudia Bracaglia, Carlos D. Rose, Marcella Montico, Donato Rigante, Taddio, Andrea, Rossetto, E., Rosé, C. D., Brescia, A. M., Bracaglia, C., Cortis, E., Rigante, D., Stabile, A., Montico, M., Ronfani, L., Ventura, Alessandro, and Lepore, L.

Subjects
Male, medicine.medical_specialty, Systemic disease, Adolescent, Blood Sedimentation, Central nervous system disease, Systemic lupus erythematosus, Internal medicine, medicine, Humans, Lupus Erythematosus, Systemic, Musculoskeletal Diseases, pediatric systemic lupus erythematosus, Child, Retrospective Studies, pediatric systemic lupus erythematosu, Univariate analysis, Lupus erythematosus, atypical presentation, business.industry, Retrospective cohort study, medicine.disease, Prognosis, Connective tissue disease, Rheumatology, Surgery, Logistic Models, multicenter study, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Kidney Diseases, Prognostic impact, business, Pediatric age, Kidney disease
Abstract

Objectives The aim of the study is to assess the rate of atypical manifestations at onset in pediatric systemic lupus erythematosus (SLE) and to evaluate their effect on disease outcome. Study design This is a multicenter retrospective cohort study. A manifestation was considered atypical if it was not included in the American College Rheumatology classification criteria for SLE but was reported in literature as associated with SLE. Unfavorable outcome was considered presence of organ damage in the Systemic Lupus International Collaborative Clinics/American College of Rheumatology Damage Index at the last available evaluation. Results One hundred patients were enrolled in the study; 24% presented atypical clinical features at onset. Univariate analysis showed a significant association of worse outcome variables with the presence of atypical manifestations at onset ( P = .004), as well as renal involvement ( P = .027). A multivariate logistic regression analysis showed that atypical manifestations at onset ( P = .018), renal involvement at onset or during follow up ( P = .024), and central nervous system disease involvement during follow up ( P = .021) were independent predictors of poor prognosis. Conclusions Our data support a relatively high rate of atypical onset in pediatric SLE. Presence of atypical manifestations at presentation and early kidney disease correlate with poor outcome. Similarly, during follow-up, kidney and central nervous system diseases are associated with worse outcome.

Published
2010

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