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1. POS0133 TRADITIONAL LABORATORY PARAMETERS AND NEW BIOMARKERS IN MACROPHAGE ACTIVATION SYNDROME (MAS) AND SECONDARY HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS (sHLH)

Author

De Matteis, A., primary, Pires Marafon, D., additional, Caiello, I., additional, Pardeo, M., additional, Marucci, G., additional, Sacco, E., additional, Minoia, F., additional, Licciardi, F., additional, Minaici, A., additional, Maccora, I., additional, Maggio, M. C., additional, Prencipe, G., additional, De Benedetti, F., additional, and Bracaglia, C., additional

Published
2023
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2. POS0277 SYSTEMIC JUVENILE IDIOPATHIC ARTHRITIS ASSOCIATED LUNG DISEASE IN EUROPE

Author

Bracaglia, C., primary, Minoia, F., additional, Kessel, C., additional, Vastert, S., additional, Pardeo, M., additional, Arduini, A., additional, Basaran, Ö., additional, Kiper, N., additional, Kostik, M., additional, Glerup, M., additional, Fingerhutova, S., additional, Caorsi, R., additional, Horne, A., additional, Filocamo, G., additional, Wittkowski, H., additional, Jelusic, M., additional, Anton, J., additional, Khaldi-Plassart, S., additional, Belot, A., additional, Horneff, G., additional, Palmer Sarott, S., additional, Cannizzaro, E., additional, Doležalová, P., additional, Ravelli, A., additional, Ozen, S., additional, and De Benedetti, F., additional

Published
2023
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4. Canakinumab in systemic juvenile idiopathic arthritis: real-world data from a retrospective Italian cohort

Author

De Matteis A, Bracaglia C, Pires Marafon D, 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, Ardenti Morini F, Conti G, De Benedetti F, Pardeo M., De Matteis, A, Bracaglia, C, Pires Marafon, D, 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, Ardenti Morini, F, Conti, G, De Benedetti, F, and Pardeo, M.

Published
2022

6. Effect of anakinra on mortality in patients with COVID-19: a systematic review and patient-level meta-analysis

Author

Kyriazopoulou, E. Huet, T. Cavalli, G. Gori, A. Kyprianou, M. Pickkers, P. Eugen-Olsen, J. Clerici, M. Veas, F. Chatellier, G. Kaplanski, G. Netea, M.G. Pontali, E. Gattorno, M. Cauchois, R. Kooistra, E. Kox, M. Bandera, A. Beaussier, H. Mangioni, D. Dagna, L. van der Meer, J.W.M. Giamarellos-Bourboulis, E.J. Hayem, G. Netea, M.G. van der Meer, J.W.M. Giamarellos-Bourboulis, E.J. Volpi, S. Sormani, M.P. Signori, A. Bozzi, G. Minoia, F. Aliberti, S. Grasselli, G. Alagna, L. Lombardi, A. Ungaro, R. Agostoni, C. Blasi, F. Costantino, G. Fracanzani, A.L. Montano, N. Peyvandi, F. Sottocorno, M. Muscatello, A. Filocamo, G. Papadopoulos, A. Mouktaroudi, M. Karakike, E. Saridaki, M. Gkavogianni, T. Katrini, K. Vechlidis, N. Avgoustou, C. Chalvatzis, S. Marantos, T. Damoulari, C. Damoraki, G. Ktena, S. Tsilika, M. Koufargyris, P. Karageorgos, A. Droggiti, D.-I. Koliakou, A. Poulakou, G. Tsiakos, K. Myrodia, D.-M. Gravvani, A. Trontzas, I.P. Syrigos, K. Kalomenidis, I. Kranidioti, E. Panagopoulos, P. Petrakis, V. Metallidis, S. Loli, G. Tsachouridou, O. Dalekos, G.N. Gatselis, N. Stefos, A. Georgiadou, S. Lygoura, V. Milionis, H. Kosmidou, M. Papanikolaou, I.C. Akinosoglou, K. Giannitsioti, E. Chrysos, G. Mavroudis, P. Sidiropoulou, C. Adamis, G. Fragkou, A. Rapti, A. Alexiou, Z. Symbardi, S. Masgala, A. Kostaki, K. Kostis, E. Samarkos, M. Bakakos, P. Tzavara, V. Dimakou, K. Tzatzagou, G. Chini, M. Kotsis, V. Tsoukalas, G. Bliziotis, I. Doumas, M. Argyraki, A. Kainis, I. Fantoni, M. Cingolani, A. Angheben, A. Cardellino, C.S. Castelli, F. Serino, F.S. Nicastri, E. Ippolito, G. Bassetti, M. Selmi, C. International Collaborative Group for Anakinra in COVID-19

Abstract

Background: Anakinra might improve the prognosis of patients with moderate to severe COVID-19 (ie, patients requiring oxygen supplementation but not yet receiving organ support). We aimed to assess the effect of anakinra treatment on mortality in patients admitted to hospital with COVID-19. Methods: For this systematic review and individual patient-level meta-analysis, a systematic literature search was done on Dec 28, 2020, in Medline (PubMed), Cochrane, medRxiv, bioRxiv, and the ClinicalTrials.gov databases for randomised trials, comparative studies, and observational studies of patients admitted to hospital with COVID-19, comparing administration of anakinra with standard of care, or placebo, or both. The search was repeated on Jan 22, 2021. Individual patient-level data were requested from investigators and corresponding authors of eligible studies; if individual patient-level data were not available, published data were extracted from the original reports. The primary endpoint was mortality after 28 days and the secondary endpoint was safety (eg, the risk of secondary infections). This study is registered on PROSPERO (CRD42020221491). Findings: 209 articles were identified, of which 178 full-text articles fulfilled screening criteria and were assessed. Aggregate data on 1185 patients from nine studies were analysed, and individual patient-level data on 895 patients were provided from six of these studies. Eight studies were observational and one was a randomised controlled trial. Most studies used historical controls. In the individual patient-level meta-analysis, after adjusting for age, comorbidities, baseline ratio of the arterial partial oxygen pressure divided by the fraction of inspired oxygen (PaO2/FiO2), C-reactive protein (CRP) concentrations, and lymphopenia, mortality was significantly lower in patients treated with anakinra (38 [11%] of 342) than in those receiving standard of care with or without placebo (137 [25%] of 553; adjusted odds ratio [OR] 0·32 [95% CI 0·20–0·51]). The mortality benefit was similar across subgroups regardless of comorbidities (ie, diabetes), ferritin concentrations, or the baseline PaO2/FiO2. In a subgroup analysis, anakinra was more effective in lowering mortality in patients with CRP concentrations higher than 100 mg/L (OR 0·28 [95% CI 0·17–0·47]). Anakinra showed a significant survival benefit when given without dexamethasone (OR 0·23 [95% CI 0·12–0·43]), but not with dexamethasone co-administration (0·72 [95% CI 0·37–1·41]). Anakinra was not associated with a significantly increased risk of secondary infections when compared with standard of care (OR 1·35 [95% CI 0·59–3·10]). Interpretation: Anakinra could be a safe, anti-inflammatory treatment option to reduce the mortality risk in patients admitted to hospital with moderate to severe COVID-19 pneumonia, especially in the presence of signs of hyperinflammation such as CRP concentrations higher than 100 mg/L. Funding: Sobi. © 2021 Elsevier Ltd

Published
2021

13. Effect of Biologic Therapy on Clinical and Laboratory Features of Macrophage Activation Syndrome Associated With Systemic Juvenile Idiopathic Arthritis

Author

Schulert, G.S. Minoia, F. Bohnsack, J. Cron, R.Q. Hashad, S. KonÉ-Paut, I. Kostik, M. Lovell, D. Maritsi, D. Nigrovic, P.A. Pal, P. Ravelli, A. Shimizu, M. Stanevicha, V. Vastert, S. Woerner, A. de Benedetti, F. Grom, A.A.

Subjects
musculoskeletal diseases
Abstract

Objective: To assess performance of the 2016 macrophage activation syndrome (MAS) classification criteria for patients with systemic juvenile idiopathic arthritis (JIA) who develop MAS while treated with biologic medications. Methods: A systematic literature review was performed to identify patients with MAS while being treated with interleukin (IL)-1 and IL-6 blocking agents. Clinical and laboratory information was compared to a large previously compiled historical cohort. Results: Eighteen publications were identified, and after removing duplicates, 35 patients treated with canakinumab and 49 patients with tocilizumab were available for analysis; 5 anakinra-treated patients were excluded due to limited numbers. MAS classification criteria were less likely to classify tocilizumab-treated patients as having MAS compared to the historical cohort or canakinumab-treated patients (56.7%, 78.5%, and 84%, respectively; P < 0.01). Patients who developed MAS while treated with canakinumab trended towards lower ferritin at MAS onset than the historical cohort (4,050 versus 5,353 ng/ml; P = 0.18) but had no differences in other cardinal clinical or laboratory features. In comparison, patients who developed MAS while treated with tocilizumab were less likely febrile and had notably lower ferritin levels (1,152 versus 5,353 ng/ml; P < 0.001). Other features of MAS were more pronounced in patients treated with tocilizumab, including lower platelet counts, lower fibrinogen, and higher aspartate aminotransferase levels. Mortality rates for patients with MAS treated with tocilizumab or canakinumab were not significantly different from the historical cohort. Conclusion: These findings show substantial alterations in MAS features that may limit utility of defined criteria for diagnosis of systemic JIA patients treated with biologic agents. © 2017, American College of Rheumatology

Published
2018

14. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis

Author

Ravelli, A, Minoia, F, Davì, S, Horne, A, Bovis, F, Pistorio, A, Aricò, M, Avcin, T, Behrens, Em, De Benedetti, F, Filipovic, A, Grom, Aa, Henter, J-i, Ilowite, Nte, Jordan, Mb, Khubchandani, R, Kitoh, T, Lehmberg, K, Lovell, Dj, Miettunen, P, Nichols, Ke, Ozen, S, Schmid, Jp, Ramanan, Av, Russo, R, Schneider, R, Sterba, G, Uziel, Y, Wallace, C, Wouters, C, Wulffraat, N, Demirkaya, E, Brunner, Hi, Martini, A, Ruperto, N, Cron, Rq, Angioloni, S, Pallotti, C, Pesce, M, Rinaldi, M, Villa, L, Abinun, M, Aggarwal, A, Akikusa, J, Al-mayouf, Sm, Alessio, M, Anton, J, Apaz, Mt, Astigarraga, I, Ayaz, Na, Barone, P, Bica, B, Bolt, I, Breda, L, Chasnyk, V, Cimaz, R, Corona, F, Cuttica, R, D'Angelo, G, Davidsone, Z, De Cunto, C, De Inocencio, J, Eisenstein, E, Enciso, S, Espada, G, Fischbach, M, Frosch, M, Gallizzi, R, Gamir, Ml, Gao, Y-j, Griffin, T, Hashad, S, Hennon, T, Horneff, G, Huasong, Z, Huber, A, Insalaco, A, Ioseliani, M, Jelusic-drazic, M, Jeng, M, Kapovic, A, Kasapcopur, O, Kone-paut, I, De Oliveira Skf, Lattanzi, B, Lepore, L, Li, C, Lipton, Jm, Magni-manzoni, S, Maritsi, D, Mccurdy, D, Merino, R, Mulaosmanovic, V, Nielsen, S, Pal, P, Prahalad, S, Rigante, Donato, Rumba-rozenfelde, I, Magalhaes, Cs, Sanner, H, Sawhney, S, Sewairi, Wm, Shakoory, B, Shenoi, S, Clovis, As, Stanevicha, V, Stine, Kc, Susic, G, Sztajnbok, F, Takei, S, Tezer, H, Trauzeddel, R, Tsitsami, E, Unsal, E, Vougiouka, O, Weaver, Lk, Weiss, J, Weitzman, S, On Behalf Of The Pediatric Rheumatology International Trials Organization, Zletni M., The Childhood Arthritis & Rheumatology Research Alliance, The Pediatric Rheumatology Collaborative Study Group And The Histiocyte Society, Ravelli, A., Minoia, F., Davi, S., Horne, A., Bovis, F., Pistorio, A., Arico, M., Avcin, T., Behrens, E. M., De Benedetti, F., Filipovic, A., Grom, A. A., Henter, J. -I., Ilowite, N. T., Jordan, M. B., Khubchandani, R., Kitoh, T., Lehmberg, K., Lovell, D. J., Miettunen, P., Nichols, K. E., Ozen, S., Schmid, J. P., Ramanan, A. V., Russo, R., Schneider, R., Sterba, G., Uziel, Y., Wallace, C., Wouters, C., Wulffraat, N., Demirkaya, E., Brunner, H. I., Martini, A., Ruperto, N., Cron, R. Q., Angioloni, S., Pallotti, C., Pesce, M., Rinaldi, M., Villa, L., Abinun, M., Aggarwal, A., Akikusa, J., Al-Mayouf, S. M., Alessio, M., Anton, J., Apaz, M. T., Astigarraga, I., Ayaz, N. A., Barone, P., Bica, B., Bolt, I., Breda, L., Chasnyk, V., Cimaz, R., Corona, F., Cuttica, R., D'Angelo, G., Davidsone, Z., De Cunto, C., De Inocencio, J., Eisenstein, E., Enciso, S., Espada, G., Fischbach, M., Frosch, M., Gallizzi, R., Gamir, M. L., Gao, Y. -J., Griffin, T., Hashad, S., Hennon, T., Horneff, G., Huasong, Z., Huber, A., Insalaco, A., Ioseliani, M., Jelusic-Drazic, M., Jeng, M., Kapovic, A., Kasapcopur, O., Kone-Paut, I., De Oliveira, S. K. F., Lattanzi, B., Lepore, L., Li, C., Lipton, J. M., Magni-Manzoni, S., Maritsi, D., Mccurdy, D., Merino, R., Mulaosmanovic, V., Nielsen, S., Pal, P., Prahalad, S., Rigante, D., Rumba-Rozenfelde, I., Magalhaes, C. S., Sanner, H., Sawhney, S., Sewairi, W. M., Shakoory, B., Shenoi, S., Clovis, A. S., Stanevicha, V., Stine, K. C., Susic, G., Sztajnbok, F., Takei, S., Tezer, H., Trauzeddel, R., Tsitsami, E., Unsal, E., Vougiouka, O., Weaver, L. K., Weiss, J., Weitzman, S., Zletni, M., and Çocuk Sağlığı ve Hastalıkları

Subjects
medicine.medical_specialty, systemic juvenile idiopathic arthritis, Epidemiology, Immunology, Arthritis, Bioinformatics, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Internal medicine, medicine, Journal Article, Immunology and Allergy, 030212 general & internal medicine, Juvenile Idiopathic Arthritis, Prospective cohort study, 030203 arthritis & rheumatology, medicine.diagnostic_test, business.industry, Paediatric Rheumatology, medicine.disease, Outcomes research, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Macrophage activation syndrome, Erythrocyte sedimentation rate, Absolute neutrophil count, sense organs, business
Abstract

OBJECTIVE: To identify which laboratory tests that change over time are most valuable for the timely diagnosis of macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (sJIA).METHODS: A multistep process, based on a combination of expert consensus and analysis of real patient data, was conducted. A panel of experts was first asked to evaluate 115 profiles of patients with MAS, which included the values of laboratory tests at the pre-MAS visit and at MAS onset, and the change in values between the two time points. The experts were asked to choose the 5 laboratory tests in which change was most important for the diagnosis of MAS and to rank the 5 selected tests in order of importance. The relevance of change in laboratory parameters was further discussed and ranked by the same experts at a consensus conference.RESULTS: Platelet count was the most frequently selected test, followed by ferritin level, aspartate aminotransferase (AST), white cell count, neutrophil count, and fibrinogen and erythrocyte sedimentation rate. Ferritin was most frequently assigned the highest score. At the end of the process, platelet count, ferritin level and AST were the laboratory tests in which the experts found change over time to be most important.CONCLUSIONS: We identified the laboratory tests in which change over time is most valuable for the early diagnosis of MAS in sJIA. The dynamics of laboratory values during the course of MAS should be further scrutinised in a prospective study in order to establish the optimal cut-off values for their variation.

Published
2016

17. Clinical features, treatment, and outcome of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis: a multinational, multicenter study of 362 patients

Author

Minoia, F, Davì, S, Horne, A, Demirkaya, E, Bovis, Francesca, Li, C, Lehmberg, K, Weitzman, S, Insalaco, A, Wouters, C, Shenoi, S, Espada, G, Ozen, S, Anton, J, Khubchandani, R, Russo, R, Pal, P, Kasapcopur, O, Miettunen, P, Maritsi, D, Merino, R, Shakoory, B, Alessio, M, Chasnyk, V, Sanner, H, Gao, Yj, Huasong, Z, Kitoh, T, Avcin, T, Fischbach, M, Frosch, M, Grom, A, Huber, A, Jelusic, M, Sawhney, S, Uziel, Y, Ruperto, N, Martini, Alberto, Cron, Rq, Ravelli, Angelo, Minoia, F., Davi, S., Horne, A., Demirkaya, E., Bovis, F., Li, C., Lehmberg, K., Weitzman, S., Insalaco, A., Wouters, C., Shenoi, S., Espada, G., Ozen, S., Anton, J., Khubchandani, R., Russo, R., Pal, P., Kasapcopur, O., Miettunen, P., Maritsi, D., Merino, R., Shakoory, B., Alessio, M., Chasnyk, V., Sanner, H., Gao, Y. -J., Huasong, Z., Kitoh, T., Avcin, T., Fischbach, M., Frosch, M., Grom, A., Huber, A., Jelusic, M., Sawhney, S., Uziel, Y., Ruperto, N., Martini, A., Cron, R. Q., and Ravelli, A.

Subjects
musculoskeletal diseases, Male, Biological Products, Fever, International Cooperation, Macrophage Activation Syndrome, Arthritis, Juvenile, Cohort Studies, Survival Rate, Intensive Care Units, Treatment Outcome, Adrenal Cortex Hormones, Child, Preschool, Splenomegaly, Cyclosporine, Prevalence, Humans, Female, Child, Etoposide, Hepatomegaly, Retrospective Studies
Abstract

Objective To describe the clinical, laboratory, and histopathologic features, current treatment, and outcome of patients with macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (JIA). Methods In this multinational, multicenter study, pediatric rheumatologists and hemato-oncologists entered patient data collected retrospectively into a web-based database. Results A total of 362 patients, 22% of whom had MAS at the onset of systemic JIA, were included in the study by 95 investigators from 33 countries. The most frequent clinical manifestations were fever (96%), hepatomegaly (70%), and splenomegaly (58%). Central nervous system dysfunction and hemorrhages were recorded in 35% and 20% of the patients, respectively. Platelet count and liver transaminase, ferritin, lactate dehydrogenase, triglyceride, and d-dimer levels were the sole laboratory biomarkers showing a percentage change of >50% between the pre-MAS visit and MAS onset. Evidence of macrophage hemophagocytosis was found in 60% of the patients who underwent bone marrow aspiration. MAS occurred most frequently in the setting of active underlying disease, in the absence of a specific trigger. Nearly all patients were given corticosteroids, and 61% received cyclosporine. Biologic medications and etoposide were given to 15% and 12% of the patients, respectively. Approximately one-third of the patients required admission to the intensive care unit (ICU), and the mortality rate was 8%. Conclusion This study provides information on the clinical spectrum and current management of systemic JIA-associated MAS through the analysis of a very large patient sample. MAS remains a serious condition, as a sizeable proportion of patients required admission to the ICU or died.

Published
2014

18. Inflammatory myopathy in a patient with collagen VI mutations

Author

Papa, R, primary, Fiorillo, C, additional, Malattia, C, additional, Minoia, F, additional, Caorsi, R, additional, Assereto, S, additional, Iacomino, M, additional, Savarese, M, additional, Nigro, V, additional, Bruno, C, additional, Minetti, C, additional, and Picco, P, additional

Published
2017
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19. Fatigue design of mechanical components in lifting appliances: stress cycles transformation

Author

Matteazzi, S. and Minoia, F.

Subjects
Cranes, derricks, etc. -- Analysis, Electric cranes -- Analysis, Fatigue testing machines -- Influence, Stress management -- Analysis, Materials -- Fatigue, Materials -- Influence, Engineering and manufacturing industries
Abstract

Byline: S. Matteazzi, F. Minoia In the present paper, the authors, long since engaged in research about fatigue effects of crane mechanical oscillations, after a detailed criticism of existing procedures, draft European Standard prEN 13001-1 included, propose a simple and rigorous methodology for random fatigue strength verifications. The authors decided to publish this paper because they realised that some crane companies had begun to exalt, in commercial notices and on line, the accomplishment of the not yet official and, indeed, still incomplete prEN 13001-1. As an advantageous alternative, two equivalent methods, strictly complying with the cumulated damage Miner's rule, are proposed, which could be considered two 'allotropic' forms of a single algorithm. The proposed procedures, particularly dedicated to mechanisms submitted to stress histories with low stresses at high cycle numbers, could be extended to different applications. For comparison purposes, two examples are recommended to the reader's attention: the first is derived from E 1049-97 ASTM Standard, the second from crane construction experience.

Published
2003

21. Long-term efficacy of IL-1 blockers in PAPA patients

Author

Finetti, M, primary, Caorsi, R, additional, Marotto, D, additional, Buoncompagni, A, additional, Omenetti, A, additional, Lattanzi, B, additional, Minoia, F, additional, Picco, P, additional, Jorini, M, additional, Martini, A, additional, and Gattorno, M, additional

Published
2015
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23. SAT0486 Macrophage Activation Syndrome and Familial Hemophagocytic Lymphohistiocytosis: Is Their Clinical Phenotype Really Similar?

Author

Horne, A., primary, Minoia, F., additional, Davì, S., additional, Bovis, F., additional, Rosina, S., additional, Lehmberg, K., additional, Weitzman, S., additional, Insalaco, A., additional, Wouters, C., additional, Shenoi, S., additional, Espada, G., additional, Ozen, S., additional, Anton, J., additional, Khubchandani, R., additional, Russo, R., additional, Ruperto, N., additional, Martini, A., additional, Cron, R., additional, and Ravelli, A., additional

Published
2015
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24. PReS-FINAL-2141: Clinical features, therapeutic interventions and outcome of 362 patients with macrophage activation syndrome enrolled in a multinational survey

Author

Minoia, F, primary, Davì, S, additional, Horne, A, additional, Consolaro, A, additional, Rosina, S, additional, Davidsone, Z, additional, De Cunto, C, additional, De Inocencio, J, additional, Eisenstein, E, additional, Espada, G, additional, Fishbach, M, additional, Frosch, M, additional, Gallizzi, R, additional, Gamir, ML, additional, Griffin, T, additional, Grom, A, additional, Hennon, T, additional, Horneff, G, additional, Huasong, Z, additional, Ruperto, N, additional, Martini, A, additional, Cron, RQ, additional, and Ravelli, A, additional

Published
2013
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28. Inflammatory myopathy in a patient with collagen VI mutations.

Author

Papa, R, Fiorillo, C, Malattia, C, Minoia, F, Caorsi, R, Assereto, S, Iacomino, M, Savarese, M, Nigro, V, Bruno, C, Minetti, C, and Picco, P

Subjects
MUSCLE diseases, ELECTROMYOGRAPHY, ECHOCARDIOGRAPHY, MAGNETIC resonance imaging, COLLAGEN, GENETIC mutation, PEDIATRICS
Abstract

The article presents a case study of a 12-year-old female patient who was diagnosed with inflammatory myopathy (IM). Results of her laboratory tests, electromyography, short tau inversion recovery (STIR) magnetic resonance imaging, biopsy, and echocardiography are discussed. According to the authors, the study is the first case of a young carrier of COL6A3 gene mutations who developed IM at onset.

Published
2018
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29. Cytomegalovirus-related necrotising vasculitis mimicking henoch-schönlein syndrome

Author

D Alessandro, M., Buoncompagni, A., Minoia, F., Coccia, M. C., Alberto MARTINI, and Picco, P.

Subjects
IgA Vasculitis, Ileal Diseases, Remission Induction, Systemic Vasculitis, Cytomegalovirus, Methylprednisolone, Drug Administration Schedule, Diagnosis, Differential, Treatment Outcome, Ileum, Intestinal Perforation, Monitoring, Immunologic, Child, Preschool, Cytomegalovirus Infections, Humans, Female, Glucocorticoids, Digestive System Surgical Procedures
Abstract

Viral vasculitides have been previously reported in the literature, the role of infections in their pathogenesis ranging from direct cause to trigger event. Here we report the case of a 3-year-old immunocompetent girl who developed a systemic vasculitis leading to ileal perforation, mimicking a full blown picture of Henoch-Schönlein purpura. High dosage steroid treatment was started, with good response. The anatomopathological examination of the resected gastrointestinal tract showed features of necrotising vasculitis and cytomegalovirus (CMV)-related inclusion bodies in the endothelial cells, with direct correlation to vascular damage. The causative role of viral infection was revealed by the presence of CMV DNA in patient's blood and positive IgG titer against the virus. Steroid therapy was then tapered: the patient achieved clinical remission, which still persists after a six-months follow-up. Our report suggests that CMV vasculitis is probably more frequent than previously thought, even in immunocompetent patients, with a protean clinical presentation, mimicking other types of vasculitides.

30. Critical role of STIR MRI in early detection of poststreptococcal periostitis with dysproteinaemia (Goldbloom's syndrome)

Author

Papa, R., Consolaro, A., Minoia, F., Caorsi, R., Magnano, G., Marco Gattorno, Ravelli, A., and Picco, P.

Subjects
Tibia, Syndrome, Magnetic Resonance Imaging, Periostitis, Early Diagnosis, Treatment Outcome, Adrenal Cortex Hormones, Predictive Value of Tests, Hypergammaglobulinemia, Streptococcal Infections, Biomarkers, Child, Female, Femur, Humans, Hypoalbuminemia, Prednisone
Abstract

In 1966, Goldbloom et al. described two children who developed a peculiar clinical picture characterized by intermittent daily bone pain in the lower limbs, fever spikes, increased acute phase reactants and dysproteinaemia. The syndrome occurred two weeks after a group A β-haemolytic streptococcus infection. So far, only a few cases have been reported in the medical literature in English.We report two further cases of Goldbloom's syndrome with a review of the literature in English.Our two patients lived in the same Italian region and presented their syndrome onset a week apart. Early use of STIR MRI revealed an atypical metaphyseal hyperintensity in the femurs and tibias. X-ray showed periosteal hyperostosis. A short cycle of corticosteroids led to rapid recovery of symptoms and disappearance of bone changes.The reported cases highlight a likely under-recognised post-streptococcal inflammatory periosteal reaction and emphasise the diagnostic utility of the newer imaging modalities.

32. 2016 Classification Criteria for Macrophage Activation Syndrome Complicating Systemic Juvenile Idiopathic Arthritis: A European League Against Rheumatism/American College of Rheumatology/Paediatric Rheumatology International Trials Organisation Collaborative Initiative

Author

Ravelli A, Minoia F, Davì S, Horne A, Bovis F, Pistorio A, Aricò M, Avcin T, Em, Behrens, De Benedetti F, Filipovic L, Aa, Grom, Ji, Henter, Nt, Ilowite, Mb, Jordan, Khubchandani R, Kitoh T, Lehmberg K, Dj, Lovell, and Miettunen P

34. 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

35. Effect of anakinra on mortality in patients with COVID-19: a systematic review and patient-level meta-analysis

Author

Evdoxia Kyriazopoulou, Thomas Huet, Giulio Cavalli, Andrea Gori, Miltiades Kyprianou, Peter Pickkers, Jesper Eugen-Olsen, Mario Clerici, Francisco Veas, Gilles Chatellier, Gilles Kaplanski, Mihai G Netea, Emanuele Pontali, Marco Gattorno, Raphael Cauchois, Emma Kooistra, Matthijs Kox, Alessandra Bandera, Hélène Beaussier, Davide Mangioni, Lorenzo Dagna, Jos W M van der Meer, Evangelos J Giamarellos-Bourboulis, Gilles Hayem, Mihai G. Netea, Jos W.M. van der Meer, Evangelos J. Giamarellos-Bourboulis, Stefano Volpi, Maria Pia Sormani, Alessio Signori, Giorgio Bozzi, Francesca Minoia, Stefano Aliberti, Giacomo Grasselli, Laura Alagna, Andrea Lombardi, Riccardo Ungaro, Carlo Agostoni, Francesco Blasi, Giorgio Costantino, Anna Ludovica Fracanzani, Nicola Montano, Flora Peyvandi, Marcello Sottocorno, Antonio Muscatello, Giovanni Filocamo, Antonios Papadopoulos, Maria Mouktaroudi, Eleni Karakike, Maria Saridaki, Theologia Gkavogianni, Konstantina Katrini, Nikolaos Vechlidis, Christina Avgoustou, Stamatios Chalvatzis, Theodoros Marantos, Christina Damoulari, Georgia Damoraki, Sofia Ktena, Maria Tsilika, Panagiotis Koufargyris, Athanasios Karageorgos, Dionysia-Irene Droggiti, Aikaterini Koliakou, Garyfallia Poulakou, Konstantinos Tsiakos, Dimitra-Melia Myrodia, Areti Gravvani, Ioannis P. Trontzas, Konstantinos Syrigos, Ioannis Kalomenidis, Eleftheria Kranidioti, Periklis Panagopoulos, Vasileios Petrakis, Simeon Metallidis, Georgia Loli, Olga Tsachouridou, George N. Dalekos, Nikolaos Gatselis, Aggelos Stefos, Sarah Georgiadou, Vassiliki Lygoura, Haralampos Milionis, Maria Kosmidou, Ilias C. Papanikolaou, Karolina Akinosoglou, Efthymia Giannitsioti, Georgios Chrysos, Panagiotis Mavroudis, Chrysanthi Sidiropoulou, Georgios Adamis, Archontoula Fragkou, Aggeliki Rapti, Zoi Alexiou, Styliani Symbardi, Aikaterini Masgala, Konstantina Kostaki, Evangelos Kostis, Michael Samarkos, Petros Bakakos, Vassiliki Tzavara, Katerina Dimakou, Glykeria Tzatzagou, Maria Chini, Vasileios Kotsis, George Tsoukalas, Ioannis Bliziotis, Michael Doumas, Aikaterini Argyraki, Ilias Kainis, Massimo Fantoni, Antonella Cingolani, Andrea Angheben, Chiara Simona Cardellino, Francesco Castelli, Francesco Saverio Serino, Emanuele Nicastri, Giuseppe Ippolito, Matteo Bassetti, Carlo Selmi, Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research (C2VN), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut National de Recherche pour l’Agriculture, l’Alimentation et l’Environnement (INRAE), Kyriazopoulou, E., Huet, T., Cavalli, Giulio., Gori, A., Kyprianou, M., Pickkers, P., Eugen-Olsen, J., Clerici, M., Veas, F., Chatellier, G., Kaplanski, G., Netea, M. G., Pontali, E., Gattorno, M., Cauchois, R., Kooistra, E., Kox, M., Bandera, A., Beaussier, H., Mangioni, D., Dagna, L., van der Meer, J. W. M., Giamarellos-Bourboulis, E. J., Hayem, G., Volpi, S., Sormani, M. P., Signori, A., Bozzi, G., Minoia, F., Aliberti, S., Grasselli, G., Alagna, L., Lombardi, A., Ungaro, R., Agostoni, C., Blasi, F., Costantino, G., Fracanzani, A. L., Montano, N., Peyvandi, F., Sottocorno, M., Muscatello, A., Filocamo, G., Papadopoulos, A., Mouktaroudi, M., Karakike, E., Saridaki, M., Gkavogianni, T., Katrini, K., Vechlidis, N., Avgoustou, C., Chalvatzis, S., Marantos, T., Damoulari, C., Damoraki, G., Ktena, S., Tsilika, M., Koufargyris, P., Karageorgos, A., Droggiti, D. -I., Koliakou, A., Poulakou, G., Tsiakos, K., Myrodia, D. -M., Gravvani, A., Trontzas, I. P., Syrigos, K., Kalomenidis, I., Kranidioti, E., Panagopoulos, P., Petrakis, V., Metallidis, S., Loli, G., Tsachouridou, O., Dalekos, G. N., Gatselis, N., Stefos, A., Georgiadou, S., Lygoura, V., Milionis, H., Kosmidou, M., Papanikolaou, I. C., Akinosoglou, K., Giannitsioti, E., Chrysos, G., Mavroudis, P., Sidiropoulou, C., Adamis, G., Fragkou, A., Rapti, A., Alexiou, Z., Symbardi, S., Masgala, A., Kostaki, K., Kostis, E., Samarkos, M., Bakakos, P., Tzavara, V., Dimakou, K., Tzatzagou, G., Chini, M., Kotsis, V., Tsoukalas, G., Bliziotis, I., Doumas, M., Argyraki, A., Kainis, I., Fantoni, M., Cingolani, A., Angheben, A., Cardellino, C. S., Castelli, F., Serino, F. S., Nicastri, E., Ippolito, G., Bassetti, M., and Selmi, C.

Subjects
medicine.medical_specialty, Anakinra, business.industry, Secondary infection, [SDV]Life Sciences [q-bio], Immunology, lnfectious Diseases and Global Health Radboud Institute for Molecular Life Sciences [Radboudumc 4], Odds ratio, Articles, Placebo, law.invention, Rheumatology, Randomized controlled trial, law, Meta-analysis, Fraction of inspired oxygen, Internal medicine, Clinical endpoint, Immunology and Allergy, Medicine, business, ComputingMilieux_MISCELLANEOUS, medicine.drug
Abstract

Contains fulltext : 237989.pdf (Publisher’s version ) (Closed access) BACKGROUND: Anakinra might improve the prognosis of patients with moderate to severe COVID-19 (ie, patients requiring oxygen supplementation but not yet receiving organ support). We aimed to assess the effect of anakinra treatment on mortality in patients admitted to hospital with COVID-19. METHODS: For this systematic review and individual patient-level meta-analysis, a systematic literature search was done on Dec 28, 2020, in Medline (PubMed), Cochrane, medRxiv, bioRxiv, and the ClinicalTrials.gov databases for randomised trials, comparative studies, and observational studies of patients admitted to hospital with COVID-19, comparing administration of anakinra with standard of care, or placebo, or both. The search was repeated on Jan 22, 2021. Individual patient-level data were requested from investigators and corresponding authors of eligible studies; if individual patient-level data were not available, published data were extracted from the original reports. The primary endpoint was mortality after 28 days and the secondary endpoint was safety (eg, the risk of secondary infections). This study is registered on PROSPERO (CRD42020221491). FINDINGS: 209 articles were identified, of which 178 full-text articles fulfilled screening criteria and were assessed. Aggregate data on 1185 patients from nine studies were analysed, and individual patient-level data on 895 patients were provided from six of these studies. Eight studies were observational and one was a randomised controlled trial. Most studies used historical controls. In the individual patient-level meta-analysis, after adjusting for age, comorbidities, baseline ratio of the arterial partial oxygen pressure divided by the fraction of inspired oxygen (PaO(2)/FiO(2)), C-reactive protein (CRP) concentrations, and lymphopenia, mortality was significantly lower in patients treated with anakinra (38 [11%] of 342) than in those receiving standard of care with or without placebo (137 [25%] of 553; adjusted odds ratio [OR] 0·32 [95% CI 0·20-0·51]). The mortality benefit was similar across subgroups regardless of comorbidities (ie, diabetes), ferritin concentrations, or the baseline PaO(2)/FiO(2). In a subgroup analysis, anakinra was more effective in lowering mortality in patients with CRP concentrations higher than 100 mg/L (OR 0·28 [95% CI 0·17-0·47]). Anakinra showed a significant survival benefit when given without dexamethasone (OR 0·23 [95% CI 0·12-0·43]), but not with dexamethasone co-administration (0·72 [95% CI 0·37-1·41]). Anakinra was not associated with a significantly increased risk of secondary infections when compared with standard of care (OR 1·35 [95% CI 0·59-3·10]). INTERPRETATION: Anakinra could be a safe, anti-inflammatory treatment option to reduce the mortality risk in patients admitted to hospital with moderate to severe COVID-19 pneumonia, especially in the presence of signs of hyperinflammation such as CRP concentrations higher than 100 mg/L. FUNDING: Sobi.

Published
2021

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

Subjects
Registry, Keywords: autoinflammatory diseases, clinical management, precision medicine, rare diseases, research, treatment, Settore MED/16 - REUMATOLOGIA, rare disease, General Medicine, autoinflammatory diseases, Settore MED/38 - Pediatria Generale E Specialistica, autoinflammatory disease, VEXAS syndrome, Human medicine
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

37. 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

38. 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

39. Development and initial validation of the macrophage activation syndrome/primary hemophagocytic lymphohistiocytosis score, a diagnostic tool that differentiates primary hemophagocytic lymphohistiocytosis from macrophage activation syndrome

Author

Francesca Minoia, Francesca Bovis, Sergio Davì, Antonella Insalaco, Kai Lehmberg, Susan Shenoi, Sheila Weitzman, Graciela Espada, Yi-Jin Gao, Jordi Anton, Toshiyuki Kitoh, Ozgur Kasapcopur, Helga Sanner, Rosa Merino, Itziar Astigarraga, Maria Alessio, Michael Jeng, Vyacheslav Chasnyk, Kim E. Nichols, Zeng Huasong, Caifeng Li, Concetta Micalizzi, Nicolino Ruperto, Alberto Martini, Randy Q. Cron, Angelo Ravelli, AnnaCarin Horne, Mario Abinun, Amita Aggarwal, Jonathan Akikusa, Sulaiman Al-Mayouf, Maria Teresa Apaz, Tadej Avcin, Nuray Aktay Ayaz, Patrizia Barone, Bianca Bica, Isabel Bolt, Luciana Breda, Rolando Cimaz, Fabrizia Corona, Ruben Cuttica, Zane Davidsone, Carmen De Cunto, Jaime De Inocencio, Erkan Demirkaya, Eli M. Eisenstein, Sandra Enciso, Michel Fischbach, Michael Frosch, Romina Gallizzi, Maria Luz Gamir, Thomas Griffin, Alexei Grom, Soad Hashad, Teresa Hennon, Jan-Inge Henter, Gerd Horneff, Adam Huber, Norman Ilowite, Maka Ioseliani, Agneza Marija Kapović, Raju Khubchandani, Isabelle Koné-Paut, Sheila Knupp Feitosa de Oliveira, Bianca Lattanzi, Loredana Lepore, Jeffrey M. Lipton, Silvia Magni-Manzoni, Despoina Maritsi, Deborah McCurdy, Paivi Miettunen, Velma Mulaosmanovic, Susan Nielsen, Seza Ozen, Priyankar Pal, Sampath Prahalad, Donato Rigante, Ingrida Rumba-Rozenfelde, Ricardo Russo, Claudia Saad Magalhães, Wafaa Mohamed Saad Sewairi, Clovis Artur Silva, Valda Stanevicha, Gary Sterba, Kimo C. Stine, Gordana Susic, Flavio Sztajnbok, Syuji Takei, Ralf Trauzeddel, Elena Tsitsami, Erbil Unsal, Yosef Uziel, Olga Vougiouka, Carol A. Wallace, Lehn Weaver, Jennifer E. Weiss, Carine Wouters, Nico Wulffraat, Mabruka Zletni, Maurizio Arico, R. Maarten Egeler, Alexandra H. Filipovich, Helmut Gadner, Shinsaku Imashuku, Gritta Janka, Stephan Ladisch, Ken L. McClain, David Webb, Minoia, F., Bovis, F., Davi, S., Insalaco, A., Lehmberg, K., Shenoi, S., Weitzman, S., Espada, G., Gao, Y. -J., Anton, J., Kitoh, T., Kasapcopur, O., Sanner, H., Merino, R., Astigarraga, I., Alessio, M., Jeng, M., Chasnyk, V., Nichols, K. E., Huasong, Z., Li, C., Micalizzi, C., Ruperto, N., Martini, A., Cron, R. Q., Ravelli, A., Horne, A., Abinun, M., Aggarwal, A., Akikusa, J., Al-Mayouf, S., Apaz, M. T., Avcin, T., Ayaz, N. A., Barone, P., Bica, B., Bolt, I., Breda, L., Cimaz, R., Corona, F., Cuttica, R., Davidsone, Z., De Cunto, C., De Inocencio, J., Demirkaya, E., Eisenstein, E. M., Enciso, S., Fischbach, M., Frosch, M., Gallizzi, R., Gamir, M. L., Griffin, T., Grom, A., Hashad, S., Hennon, T., Henter, J. -I., Horneff, G., Huber, A., Ilowite, N., Ioseliani, M., Kapovic, A. M., Khubchandani, R., Kone-Paut, I., de Oliveira, S. K. F., Lattanzi, B., Lepore, L., Lipton, J. M., Magni-Manzoni, S., Maritsi, D., Mccurdy, D., Miettunen, P., Mulaosmanovic, V., Nielsen, S., Ozen, S., Pal, P., Prahalad, S., Rigante, D., Rumba-Rozenfelde, I., Russo, R., Magalhaes, C. S., Sewairi, W. M. S., Artur Silva, C., Stanevicha, V., Sterba, G., Stine, K. C., Susic, G., Sztajnbok, F., Takei, S., Trauzeddel, R., Tsitsami, E., Unsal, E., Uziel, Y., Vougiouka, O., Wallace, C. A., Weaver, L., E. Weiss, J., Wouters, C., Wulffraat, N., Zletni, M., Arico, M., Egeler, R. M., Filipovich, A. H., Gadner, H., Imashuku, S., Janka, G., Ladisch, S., Mcclain, K. L., and Webb, D.

Subjects
Male, 0301 basic medicine, Hemophagocytic, Logistic regression, Pediatrics, hemophagocytic syndrome, 0302 clinical medicine, diagnostic score, Diagnosis, Medicine, Cutoff, Child, primary hemophagocytic lymphohistiocytosi, Lymphohistiocytosis, education.field_of_study, primary hemophagocytic lymphohistiocytosis, Perinatology and Child Health, Quartile, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Macrophage activation syndrome, Child, Preschool, macrophage activation syndrome, Absolute neutrophil count, Female, Human, medicine.medical_specialty, Adolescent, Population, Lymphohistiocytosis, Hemophagocytic, Diagnosis, Differential, 03 medical and health sciences, Internal medicine, Humans, Preschool, education, 030203 arthritis & rheumatology, Receiver operating characteristic, business.industry, Infant, Reproducibility of Results, medicine.disease, Surgery, 030104 developmental biology, Macrophage Activation Syndrome, Pediatrics, Perinatology and Child Health, Differential, Differential diagnosis, business
Abstract

OBJECTIVE: To develop and validate a diagnostic score that assists in discriminating primary hemophagocytic lymphohistiocytosis (pHLH) from macrophage activation syndrome (MAS) related to systemic juvenile idiopathic arthritis. STUDY DESIGN: The clinical, laboratory, and histopathologic features of 362 patients with MAS and 258 patients with pHLH were collected in a multinational collaborative study. Eighty percent of the population was assessed to develop the score and the remaining 20% constituted the validation sample. Variables that entered the best fitted model of logistic regression were assigned a score, based on their statistical weight. The MAS/HLH (MH) score was made up with the individual scores of selected variables. The cutoff in the MH score that discriminated pHLH from MAS best was calculated by means of receiver operating characteristic curve analysis. Score performance was examined in both developmental and validation samples. RESULTS: Six variables composed the MH score: age at onset, neutrophil count, fibrinogen, splenomegaly, platelet count, and hemoglobin. The MH score ranged from 0 to 123, and its median value was 97 (1st-3rd quartile 75-123) and 12 (1st-3rd quartile 11-34) in pHLH and MAS, respectively. The probability of a diagnosis of pHLH ranged from 99% for a score of =123. A cutoff value of =60 revealed the best performance in discriminating pHLH from MAS. CONCLUSION: The MH score is a powerful tool that may aid practitioners to identify patients who are more likely to have pHLH and, thus, could be prioritized for functional and genetic testing.

Published
2017

40. Inflammatory myopathy in a patient with collagen VI mutations

Author

Marco Savarese, Clara Malattia, Chiara Fiorillo, Carlo Minetti, Michele Iacomino, Stefania Assereto, Claudio Bruno, P Picco, Francesca Minoia, Vincenzo Nigro, Roberta Caorsi, Riccardo Papa, Papa, R., Fiorillo, C., Malattia, C., Minoia, F., Caorsi, R., Assereto, S., Iacomino, M., Savarese, M., Nigro, V., Bruno, C., Minetti, C., and Picco, P.

Subjects
Pathology, medicine.medical_specialty, Immunology, Collagen Type VI, Diagnostic tools, Inflammatory myopathy, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Collagen VI, Internal medicine, Humans, Immunology and Allergy, Medicine, 030212 general & internal medicine, Child, Paediatric patients, Heterogeneous group, Myositis, business.industry, General Medicine, medicine.disease, Magnetic Resonance Imaging, Mutation, Female, business, 030217 neurology & neurosurgery
Abstract

Inflammatory myopathies (IMs) are a heterogeneous group of muscle diseases, which are rarely diagnosed during childhood (1). Paediatric patients usually require a wide spectrum of diagnostic tools,...

Published
2017

41. Defining Criteria for Disease Activity States in Systemic Juvenile Idiopathic Arthritis Based on the Systemic Juvenile Arthritis Disease Activity Score.

Author

Rosina S, Rebollo-Giménez AI, Tarantola L, Pistorio A, Vyzhga Y, El Miedany Y, Lotfy HM, Abu-Shady H, Eissa M, Osman NS, Hassan W, Mahgoub MY, Fouad NA, Mosa DM, Adel Y, Mohamed SEM, Radwan AR, Abu-Zaid MH, Tabra SAA, Shalaby RH, Nasef SI, Khubchandani R, Khan A, Maldar NP, Ozen S, Bayindir Y, Alsuweiti M, Alzyoud R, Almaaitah H, Vilaiyuk S, Lerkvaleekul B, Alexeeva E, Dvoryakovskaya T, Kriulin I, Bracaglia C, Pardeo M, De Benedetti F, Licciardi F, Montin D, Robasto F, Minoia F, Filocamo G, Rossano M, Simonini G, Marrani E, Abu-Rumeileh S, Kostik MM, Belozerov KE, Pal P, Bathia JN, Katsicas MM, Villarreal G, Marino A, Costi S, Sztajnbok F, Silva RM, Maggio MC, El-Ghoneimy DH, El Owaidy R, Civino A, Diomeda F, Al-Mayouf SM, Al-Sofyani F, Dāvidsone Z, Patrone E, Saad-Magalhães C, Consolaro A, and Ravelli A

Subjects
Humans, Child, Male, Female, Adolescent, Child, Preschool, Cohort Studies, ROC Curve, Arthritis, Juvenile physiopathology, Severity of Illness Index
Abstract

Objective: Our objective was to develop and validate cutoff values in the systemic Juvenile Arthritis Disease Activity Score 10 (sJADAS10) that distinguish the states of inactive disease (ID), minimal disease activity (MDA), moderate disease activity (MoDA), and high disease activity (HDA) in children with systemic juvenile idiopathic arthritis, based on subjective disease state assessment by the treating pediatric rheumatologist., Methods: The cutoff definition cohort was composed of 400 patients enrolled at 30 pediatric rheumatology centers in 11 countries. Using the subjective physician rating as an external criterion, six methods were applied to identify the cutoffs: mapping, calculation of percentiles of cumulative score distribution, the Youden index, 90% specificity, maximum agreement, and receiver operating characteristic curve analysis. Sixty percent of the patients were assigned to the definition cohort, and 40% were assigned to the validation cohort. Cutoff validation was conducted by assessing discriminative ability., Results: The sJADAS10 cutoffs that separated ID from MDA, MDA from MoDA, and MoDA from HDA were ≤2.9, ≤10, and >20.6, respectively. The cutoffs discriminated strongly among different levels of pain, between patients with and without morning stiffness, and among patients whose parents judged their disease status as remission or persistent activity or flare or were satisfied or not satisfied with current illness outcome., Conclusion: The sJADAS cutoffs revealed good metrologic properties in both definition and validation cohorts and are therefore suitable for use in clinical trials and routine practice., (© 2024 The Authors. Arthritis & Rheumatology published by Wiley Periodicals LLC on behalf of American College of Rheumatology.)

Published
2024
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42. Current treatment in macrophage activation syndrome worldwide: a systematic literature review to inform the METAPHOR project.

Author

Baldo F, Erkens RGA, Mizuta M, Rogani G, Lucioni F, Bracaglia C, Foell D, Gattorno M, Jelusic M, Anton J, Brogan P, Canna S, Chandrakasan S, Cron RQ, De Benedetti F, Grom A, Heshin-Bekenstein M, Horne A, Khubchandani R, Ozen S, Quartier P, Ravelli A, Shimizu M, Schulert G, Scott C, Sinha R, Ruperto N, Swart JF, Vastert S, and Minoia F

Abstract

Objective: To assess current treatment in macrophage activation syndrome (MAS) worldwide and to highlight any areas of major heterogeneity of practice., Methods: A systematic literature search was performed in both Embase and PubMed databases. Paper screening was done by two independent teams based on agreed criteria. Data extraction was standardized following the PICO framework. A panel of experts assessed paper validity, using the Joanna Briggs Institute appraisal tools and category of evidence (CoE) according to EULAR procedure., Results: Fifty-seven papers were finally included (80% retrospective case-series), describing 1148 patients with MAS: 889 systemic juvenile idiopathic arthritis (sJIA), 137 systemic lupus erythematosus (SLE), 69 Kawasaki disease (KD) and 53 other rheumatologic conditions. Fourteen and 11 studies specified data on MAS associated to SLE and KD, respectively. All papers mentioned glucocorticoids (GCs), mostly methylprednisolone and prednisolone (90%); dexamethasone was used in 7% of patients. Ciclosporin was reported in a wide range of patients according to different cohorts. Anakinra was used in 179 MAS patients, with a favourable outcome in 83% of sJIA-MAS. Etoposide was described by 11 studies, mainly as part of HLH-94/04 protocol. Emapalumab was the only medication tested in a clinical trial in 14 sJIA-MAS, with 93% of MAS remission. Ruxolitinib was the most reported JAK-inhibitor in MAS., Conclusion: High-dose GCs together with IL-1 and IFNγ inhibitors have shown efficacy in MAS, especially in sJIA-associated MAS. However, global level of evidence on MAS treatment, especially in other conditions, is still poor and requires standardized studies to be confirmed., (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology.)

Published
2024
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43. Diagnostic Guidelines for Familial Hemophagocytic Lymphohistiocytosis Revisited.

Author

Henter JI, Sieni E, Eriksson J, Bergsten E, Hed Myrberg I, Canna S, Coniglio ML, Cron RQ, Kernan KF, Kumar AR, Lehmberg K, Minoia F, Naqvi A, Ravelli A, Tang Y, Bottai M, Bryceson YT, Horne A, and Jordan MB

Abstract

Current HLH-2004-based diagnostic criteria for familial hemophagocytic lymphohistiocytosis (FHL) are based on expert opinion. Here we performed a case-control study to test and possibly improve these clinical criteria. We also developed two complementary expert opinion-based diagnostic strategies for FHL in patients with signs/symptoms suggestive of HLH, based on genetic and cellular cytotoxicity assays. The cases (n=366) were children <16 years with verified familial and/or genetic FHL (n=341) or Griscelli syndrome type 2 (GS2) (n=25); 276 from the HLH-94/HLH-2004 databases and 90 from the Italian HLH Registry. All fulfilled the HLH-94/HLH-2004 patient inclusion criteria. Controls were 374 children with systemic-onset juvenile idiopathic arthritis (sJIA) and 329+361 children in two cohorts with febrile infections that could be confused with HLH and sepsis, respectively. To provide complete data sets, multiple imputations were performed. The optimal model, based on the number of diagnostic criteria fulfilled from 17 variables studied, reveled almost similar diagnostic thresholds as the existing criteria, with accuracy 99.1% (sensitivity 97.1%; specificity 99.5%). Notably, assessment of the original HLH-2004 criteria revealed accuracy 97.4% (sensitivity 99.0%; specificity 97.1%). Since cellular cytotoxicity assays here constitute a separate diagnostic strategy, HLH-2004 criteria without NK-cell function was also studied which showed accuracy 99.0% (sensitivity 96.2%; specificity 99.5%). Thus, we conclude that the HLH-2004 criteria (without NK-cell function) have significant validity in their current form when tested against severe infections or sJIA. It is important to exclude underlying malignancies and atypical infections. In addition, complementary cellular and genetic diagnostic guidelines can facilitate necessary confirmation of clinical diagnosis., (Copyright © 2024 American Society of Hematology.)

Published
2024
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44. The HyperPed-COVID international registry: Impact of age of onset, disease presentation and geographical distribution on the final outcome of MIS-C.

Author

Caorsi R, Consolaro A, Speziani C, Sozeri B, Ulu K, Faugier-Fuentes E, Menchaca-Aguayo H, Ozen S, Sener S, Akhter Rahman S, Imnul Islam M, Haerynck F, Simonini G, Mastri MV, Avcin T, Sršen S, de Albuquerque Pedrosa Fernandes T, Stanevicha V, Vojinovic J, Sobh A, Fingerhutova S, Minxova L, Gagro A, Rodrigues Fonseca A, Pandya D, Varbanova B, Sánchez-Manubens J, Ganeva M, Montin D, Boyarchuk O, Minghini A, Bracaglia C, Brogan P, Candotti F, Cattalini M, Meyts I, Minoia F, Taddio A, Wouters C, De Benedetti F, Bovis F, Ravelli A, Ruperto N, Gattorno M, Bilginer Y, Laila K, Islam MM, Meertens B, Hoste L, Dehoorne J, Schelstraete P, Vandekerckhove K, Willems J, Matthijs I, Filocamo E Gisella Beatrice Beretta G, Magalhaes CS, Chubata O, Ricci F, Vukovic A, Temelkova K, Avramovic MZ, Emersic N, Bizjak M, Vesel T, Rodrigues MF, Gasparello de Almeida R, Lukjanovica K, Elnagdy MH, Soliman A, Terifajova E, Brejchova I, Magner M, Myrup C, Vougiouka O, Jelusic M, La Torre F, Rigante D, Maggio MC, Verdoni L, Rubio-Perez N, Cornejo GV, Villarreal Trevino AV, Brito I, Oliveira-Ramos F, Alexeeva E, Chasnyk V, Arkachaisri T, Boyko Y, Vyzhga Y, and Samsonenko S

Subjects
Humans, Child, Child, Preschool, Female, Male, Infant, Adolescent, Retrospective Studies, Europe epidemiology, Infant, Newborn, Registries, COVID-19 epidemiology, COVID-19 mortality, COVID-19 complications, Age of Onset, Systemic Inflammatory Response Syndrome epidemiology, Systemic Inflammatory Response Syndrome diagnosis, Systemic Inflammatory Response Syndrome therapy, SARS-CoV-2
Abstract

Objectives: The aim of the study was to establish an international multicenter registry to collect data on patients with Multisystem Inflammatory Syndrome in Children (MIS-C), in order to highlight a relationship between clinical presentation, age of onset and geographical distribution on the clinical outcome., Study Design: Multicenter retrospective study involving different international societies for rare immunological disorders.1009 patients diagnosed with MIS-C between March and September 2022, from 48 centers and 22 countries were collected. Five age groups (<1, 1-4, 5-11, 12-16, >16 years) and four geographic macro-areas, Western Europe, Central-Eastern Europe, Latin America, Asian-African resource-limited countries (LRC), were identified., Results: Time to referral was significantly higher in LRC. Intensive anti-inflammatory treatment, including biologics, respiratory support and mechanic ventilation were more frequently used in older children and in European countries. The mortality rate was higher in very young children (<1 year), in older patients (>16 years of age) and in LRC. Multivariate analysis identified the residence in LRC, presence of severe cardiac involvement, renal hypertension, lymphopenia and non-use of heparin prophylaxis, as the factors most strongly associated with unfavorable outcomes., Conclusions: The stratification of patients by age and geographic macro-area provided insights into the clinical presentation, treatment and outcome of MIS-C. The mortality and sequelae rates exhibited a correlation with the age and geographical areas. Patients admitted and treated in LRC displayed more severe outcomes, possibly due to delays in hospital admission and limited access to biologic drugs and to intensive care facilities., (Copyright © 2024 Elsevier Ltd. All rights reserved.)

Published
2024
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45. Effectiveness and Safety of Biosimilars in Pediatric Non-infectious Uveitis: Real-Life Data from the International AIDA Network Uveitis Registry.

Author

Tarsia M, Vitale A, Gaggiano C, Sota J, Maselli A, Bellantonio C, Guerriero S, Dammacco R, La Torre F, Ragab G, Hegazy MT, Fonollosa A, Paroli MP, Del Giudice E, Maggio MC, Cattalini M, Fotis L, Conti G, Mauro A, Civino A, Diomeda F, de-la-Torre A, Cifuentes-González C, Tharwat S, Hernández-Rodríguez J, Gómez-Caverzaschi V, Pelegrín L, Babu K, Gupta V, Minoia F, Ruscitti P, Costi S, Breda L, La Bella S, Conforti A, Mazzei MA, Carreño E, Amin RH, Grosso S, Frediani B, Tosi GM, Balistreri A, Cantarini L, and Fabiani C

Abstract

Introduction: Since many biological drug patents have expired, biosimilar agents (BIOs) have been developed; however, there are still some reservations in their use, especially in childhood. The aim of the current study is to evaluate the efficacy and safety of tumor necrosis factor (TNF) inhibitors BIOs as treatment for pediatric non-infectious uveitis (NIU)., Methods: Data from pediatric patients with NIU treated with TNF inhibitors BIOs were drawn from the international AutoInflammatory Disease Alliance (AIDA) registries dedicated to uveitis and Behçet's disease. The effectiveness and safety of BIOs were assessed in terms of frequency of relapses, risk for developing ocular flares, best-corrected visual acuity (BCVA), glucocorticoids (GCs)-sparing effect, drug survival, frequency of ocular complications, and adverse drug event (AE)., Results: Forty-seven patients (77 affected eyes) were enrolled. The BIOs employed were adalimumab (ADA) (89.4%), etanercept (ETA) (5.3%), and infliximab (IFX) (5.3%). The number of relapses 12 months prior to BIOs and at last follow-up was 282.14 and 52.43 per 100 patients/year. The relative risk of developing ocular flares before BIOs introduction compared to the period following the start of BIOs was 4.49 (95% confidence interval [CI] 3.38-5.98, p = 0.004). The number needed to treat (NNT) for ocular flares was 3.53. Median BCVA was maintained during the whole BIOs treatment (p = 0.92). A significant GCs-sparing effect was observed throughout the treatment period (p = 0.002). The estimated drug retention rate (DRR) at 12-, 24-, and 36-month follow-up were 92.7, 83.3, and 70.8%, respectively. The risk rate for developing structural ocular complications was 89.9/100 patients/year before starting BIOs and 12.7/100 patients/year during BIOs treatment, with a risk ratio of new ocular complications without BIOs of 7.1 (CI 3.4-14.9, p = 0.0003). Three minor AEs were reported., Conclusions: TNF inhibitors BIOs are effective in reducing the number of ocular uveitis relapses, preserving visual acuity, allowing a significant GCs-sparing effect, and preventing structural ocular complications., Trial Registration: ClinicalTrials.gov ID NCT05200715., (© 2024. The Author(s).)

Published
2024
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46. Predictors of lack of response to methotrexate in juvenile idiopathic arthritis associated uveitis.

Author

Mapelli C, Miserocchi E, Nassisi M, Beretta GB, Marelli L, Leone G, Marino A, Chighizola C, Cincinelli G, Giani T, Nucci P, Viola F, Filocamo G, and Minoia F

Abstract

Objectives: To investigate clinical features associated with lack of response to MTX in juvenile idiopathic arthritis associated uveitis (JIA-U)., Methods: Clinical records of JIA-U patients were retrospectively reviewed. Differences among variables were assessed by Mann-Whitney and χ 2 or Fisher's exact tests as appropriate. Association between predictors and requirement of a biological disease modifying antirheumatic drug (bDMARD) was evaluated by univariate Cox regression analysis and Kaplan-Meier curves. A multivariable logistic model was applied to estimate strength of association, adjusting for potential confounders., Results: Data from 99 JIA-U patients treated with MTX were analysed (82.8% female), with a mean follow up of 9.2 years and a mean age at uveitis onset of 5.7 years. In 65 patients (65.7%) at least one bDMARD to control uveitis was required. Children requiring a bDMARD for uveitis had lower age at JIA and uveitis onset, more frequent polyarticular course, higher frequency of bilateral uveitis at onset and higher prevalence of systemic steroids' use. Despite similar frequency of ocular damage at onset, MTX non responders showed a higher percentage of ocular damage at last visit. Younger age at JIA onset, polyarticular course and a history of systemic steroids' use resulted independent factors associated to lack of response to MTX at Cox regression analysis. Kaplan-Meier curves and the multivariate model confirms the independent role of both polyarticular course and systemic steroids' use., Conclusions: Younger age at JIA onset, polyarticular course and a history of systemic steroids' use are predictors of a worse response to MTX in JIA-U., (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology.)

Published
2024
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47. Criteria for Cytokine Storm Syndromes.

Author

Minoia F and Ravelli A

Subjects
Humans, Macrophage Activation Syndrome diagnosis, Macrophage Activation Syndrome classification, Macrophage Activation Syndrome immunology, Arthritis, Juvenile diagnosis, Arthritis, Juvenile classification, Arthritis, Juvenile immunology, Arthritis, Juvenile drug therapy, SARS-CoV-2 immunology, Child, Cytokines metabolism, COVID-19 immunology, COVID-19 diagnosis, COVID-19 complications, Cytokine Release Syndrome immunology, Cytokine Release Syndrome diagnosis, Cytokine Release Syndrome etiology
Abstract

In the past two decades, there has been a great deal of work aimed to devise diagnostic guidelines, classification criteria, and diagnostic scores for cytokine storm syndromes (CSSs). The most notable effort has been the large-scale multinational study that led to the development of the 2016 classification criteria for macrophage activation syndrome (MAS) complicating systemic juvenile idiopathic arthritis (JIA). Future studies should scrutinize the validity of the proposed criteria, particularly in systemic JIA patients treated with biologics, in children with subtle or incomplete forms of MAS, and in patients with MAS complicating other rheumatologic disorders. More generic CSS criteria are also available but often lack sensitivity and specificity in a wide variety of patient populations and CSSs of different etiologies. The coronavirus disease 2019 (COVID-19)-related lung disease led to an evolution of the concept of a "cytokine storm." Emerging and unsolved challenges in the diagnosis of the different forms of CSSs highlight the need for diagnostic tools and well-established classification criteria to enable timely recognition and correct classification of patients., (© 2024. The Author(s), under exclusive license to Springer Nature Switzerland AG.)

Published
2024
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48. Novel heterozygous TREX1 mutation in a juvenile systemic lupus erythematosus patient with severe cutaneous involvement treated successfully with Jak-inhibitors: a case report.

Author

Rossano M, Conti EA, Bocca P, Volpi S, Mastrangelo A, Cavalli R, Gattorno M, Minoia F, and Filocamo G

Subjects
Female, Humans, Adolescent, Genome-Wide Association Study, Mutation, Janus Kinase Inhibitors therapeutic use, Lupus Erythematosus, Systemic drug therapy, Lupus Erythematosus, Systemic genetics, Interferon Type I genetics
Abstract

Juvenile systemic lupus erythematosus (jSLE) is a complex inflammatory autoimmune disorder. In the last decades, genetic factors and activation pathways have been increasingly studied to understand their potential pathogenetic role better. Genetic and transcriptional abnormalities directly involved in the type I interferon (IFN) signaling cascade have been identified through family-based and genome-wide association studies. IFNs trigger signaling pathways that initiate gene transcription of IFN-stimulated genes through the activation of JAK1, TYK2, STAT1, and STAT2. Thus, the use of therapies that target the IFN pathway would represent a formidable advance in SLE. It is well known that JAK inhibitors have real potential for the treatment of rheumatic diseases, but their efficacy in the treatment of SLE remains to be elucidated. We report the case of a 13-year-old girl affected by jSLE, carrying a novel heterozygous missense variant on Three prime Repair EXonuclease 1 ( TREX1 ), successfully treated with baricitinib on top of mofetil mycophenolate. The TREX1 gene plays an important role in DNA damage repair, and its mutations have been associated with an overproduction of type 1 interferon. This report underlines the role of translational research in identifying potential pathogenetic pathways in rare diseases to optimize treatment., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2023 Rossano, Conti, Bocca, Volpi, Mastrangelo, Cavalli, Gattorno, Minoia and Filocamo.)

Published
2023
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49. Insights into the clinical presentation of juvenile systemic lupus erythematosus: the PRAGMA monocentric cohort of 177 patients.

Author

Chighizola CB, Petaccia A, Gattinara M, Corona F, Marino A, Torcoletti M, Argolini L, Filocamo G, Costi S, Pontikaki I, Lanni S, Minoia F, Rossano M, Gerosa M, Agostoni C, and Caporali R

Subjects
Child, Female, Humans, Retrospective Studies, Patients, Rheumatology, Lupus Erythematosus, Systemic complications, Lupus Erythematosus, Systemic diagnosis
Abstract

Objectives: The aim of this work is to describe the clinical manifestations at onset and during follow-up in a monocentric cohort of patients with juvenile systemic lupus erythematosus (jSLE) from the Paediatric Rheumatology group of the Milan area (PRAGMA)., Methods: Patients were retrospectively included in case of i) SLE diagnosis according to the 1997 American College of Rheumatology or the 2012 SLICC classification criteria and ii) disease onset before 18 years., Results: Among the 177 recruited patients (155 females), haematologic involvement was the most common disease manifestation (75%), followed by joint and cutaneous involvements (70% and 57%, respectively). Renal disease was observed in 58 patients (32.8%), neurological complications in 26 cases (14.7%). Patients presented most commonly 3 clinical manifestations (32.8%), while 2 organ involvements were identified in 54 patients (30.5%) and 4 in 25 subjects (14.1%). The 49 patients with disease onset <10 years had less commonly articular involvement (p=0.02), while patients aged >14.8 years displayed less neurological manifestations (p=0.02). At a median follow-up of 118 month, the disease progressed in 93 patients, with a median of 2 new manifestations per patient. Low complement at diagnosis predicted new clinical manifestations (p=0.013 for C3 and p=0.0004 for C4). The median SLEDAI at diagnosis was 13; SLEDAI was substantially similar at 6 months, decreased at 12 months to remain stable at 18 months and further reduce at 24 months (p<0.0001)., Conclusions: These data from a large jSLE monocentric cohort allow gaining further insights into a rare disease with a still high morbidity burden.

Published
2023
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50. Can early-onset acquired demyelinating syndrome (ADS) hide pediatric Behcet's disease? A case report.

Author

Pozzato M, Dilena R, Rogani G, Beretta G, Torreggiani S, Lanni S, Tozzo A, Andreetta F, Cavalcante P, Triulzi F, Martinelli Boneschi F, Minoia F, and Filocamo G

Abstract

Behcet's disease (BD) is a rare vasculitis characterized by multisystemic inflammation. Central nervous system (CNS) involvement is rare and heterogeneous, particularly in the pediatric population. A diagnosis of neuro-Behcet could be highly challenging, especially if neurological manifestations precede other systemic features; however, its timely definition is crucial to prevent long-term sequelae. In this study, we describe the case of a girl who, at 13 months of age, presented with a first episode of encephalopathy compatible with acute disseminated encephalomyelitis, followed, after 6 months, by a neurological relapse characterized by ophthalmoparesis and gait ataxia, in association with new inflammatory lesions in the brain and spinal cord, suggesting a neuromyelitis optica spectrum disorder. The neurological manifestations were successfully treated with high-dose steroids and intravenous immunoglobulins. In the following months, the patient developed a multisystemic involvement suggestive of Behcet's disease, characterized by polyarthritis and uveitis, associated with HLA-B51 positivity. The challenge presented by this unique case required a multidisciplinary approach involving pediatric neurologists, neuro-radiologists, and pediatric rheumatologists, with all of these specialists creating awareness about early-onset acquired demyelinating syndromes (ADSs). Given the rarity of this presentation, we performed a review of the literature focusing on neurological manifestations in BD and differential diagnosis of patients with early-onset ADS., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Pozzato, Dilena, Rogani, Beretta, Torreggiani, Lanni, Tozzo, Andreetta, Cavalcante, Triulzi, Martinelli Boneschi, Minoia and Filocamo.)

Published
2023
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