Search

Your search keyword '"Espada G"' showing total 145 results
Start Over Author "Espada G"
145 results on '"Espada G"'

1. Interpretable Symbolic Regression for Data Science: Analysis of the 2022 Competition

Author

de Franca, F. O., Virgolin, M., Kommenda, M., Majumder, M. S., Cranmer, M., Espada, G., Ingelse, L., Fonseca, A., Landajuela, M., Petersen, B., Glatt, R., Mundhenk, N., Lee, C. S., Hochhalter, J. D., Randall, D. L., Kamienny, P., Zhang, H., Dick, G., Simon, A., Burlacu, B., Kasak, Jaan, Machado, Meera, Wilstrup, Casper, and La Cava, W. G.

Subjects
Computer Science - Machine Learning, Computer Science - Artificial Intelligence
Abstract

Symbolic regression searches for analytic expressions that accurately describe studied phenomena. The main attraction of this approach is that it returns an interpretable model that can be insightful to users. Historically, the majority of algorithms for symbolic regression have been based on evolutionary algorithms. However, there has been a recent surge of new proposals that instead utilize approaches such as enumeration algorithms, mixed linear integer programming, neural networks, and Bayesian optimization. In order to assess how well these new approaches behave on a set of common challenges often faced in real-world data, we hosted a competition at the 2022 Genetic and Evolutionary Computation Conference consisting of different synthetic and real-world datasets which were blind to entrants. For the real-world track, we assessed interpretability in a realistic way by using a domain expert to judge the trustworthiness of candidate models.We present an in-depth analysis of the results obtained in this competition, discuss current challenges of symbolic regression algorithms and highlight possible improvements for future competitions., Comment: 13 pages, 13 figures, submitted to IEEE Transactions on Evolutionary Computation

Published
2023

4. Efficacy and safety of tocilizumab (TCZ) in patients with systemic juvenile idiopathic arthritis (SJIA): tender 52-week data

Author

Espada G, Pardeo M, Chaitow J, Brown D, Allen R, Zulian F, Zuber Z, Wulffraat N, Joos R, Dolezalova P, Burgos-Vargas R, Woo P, Schneider R, Ruperto N, Brunner H, De Benedetti F, Flato B, Gerloni V, Horneff G, Wright S, Kenwright A, Lovell D, and Martini A

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2011
Full Text
View/download PDF

6. 2.3 Long-term efficacy and safety of infliximab plus methotrexate for the treatment of polyarticular course juvenile rheumatoid arthritis (JRA): Findings from an open-label treatment extension

Author

Ruperto N, Lovell DJ, Cuttica R, Woo P, Espada G, Wouters C, Silverman ED, Balogh Z, Henrickson M, Davidson J, Foeldvari I, Imundo L, Simonini G, Oppermann J, Shen YK, Visvanathan S, Fasanmade A, Mendelsohn A, Martini A, and Giannini EH

Subjects
Pediatrics, RJ1-570, Diseases of the musculoskeletal system, RC925-935
Published
2008
Full Text
View/download PDF

8. SRBench++: Principled benchmarking of symbolic regression with domain-expert interpretation

Author

De Franca, F.O., Virgolin, M. (Marco), Kommenda, M., Majumder, M.S., Cranmer, M., Espada, G., Ingelse, L., Fonseca, A., Landajuela, M., Petersen, B., Glatt, R., Mundhenk, N., Lee, C.S., Hochhalter, J.D., Randall, D.L., Kamienny, P.-A. (Pierre-Alexandre), Zhang, H., Dick, G., Simon, A., Burlacu, B., Kasak, J. (Jaan), Machado, M. (Meera), Wilstrup, C. (Casper), Cavaz, W.G.L., De Franca, F.O., Virgolin, M. (Marco), Kommenda, M., Majumder, M.S., Cranmer, M., Espada, G., Ingelse, L., Fonseca, A., Landajuela, M., Petersen, B., Glatt, R., Mundhenk, N., Lee, C.S., Hochhalter, J.D., Randall, D.L., Kamienny, P.-A. (Pierre-Alexandre), Zhang, H., Dick, G., Simon, A., Burlacu, B., Kasak, J. (Jaan), Machado, M. (Meera), Wilstrup, C. (Casper), and Cavaz, W.G.L.

Abstract

Symbolic regression searches for analytic expressions that accurately describe studied phenomena. The main promise of this approach is that it may return an interpretable model that can be insightful to users, while maintaining high accuracy. The current standard for benchmarking these algorithms is SRBench, which evaluates methods on hundreds of datasets that are a mix of real-world and simulated processes spanning multiple domains. At present, the ability of SRBench to evaluate interpretability is limited to measuring the size of expressions on real-world data, and the exactness of model forms on synthetic data. In practice, model size is only one of many factors used by subject experts to determine how interpretable a model truly is. Furthermore, SRBench does not characterize algorithm performance on specific, challenging sub-tasks of regression such as feature selection and evasion of local minima. In this work, we propose and evaluate an approach to benchmarking SR algorithms that addresses these limitations of SRBench by 1) incorporating expert evaluations of interpretability on a domain-specific task, and 2) evaluating algorithms over distinct properties of data science tasks. We evaluate 12 modern symbolic regression algorithms on these benchmarks and present an in-depth analysis of the results, discuss current challenges of symbolic regression algorithms and highlight possible improvements for the benchmark itself.

Published
2024
Full Text
View/download PDF

9. POS0744 MULTISYSTEM INFLAMMATORY SYNDROME IN CHILDREN ACROSS 16 LATIN AMERICAN COUNTRIES: A MULTICENTER STUDY FROM THE REKAMLATINA NETWORK

Author

Garcia-Silva, J., primary, Ulloa-Gutierrez, R., additional, Ivankovich Escoto, G., additional, Yamazaki-Nakashimada, M. A., additional, Faugier Fuentes, E., additional, Del Águila, O., additional, Villlarreal, A. V., additional, Camacho Moreno, G., additional, Estripeaut, D., additional, Gutiérrez, I. F., additional, Castillo-Bustamante, D., additional, Luciani, K., additional, Fabi, M., additional, Espada, G., additional, Pringue, A., additional, Álvarez-Olmos, M. I., additional, Silfa, C., additional, García-Domínguez, M., additional, Pérez-Camacho, P., additional, Duarte-Passos, S., additional, Borjas Aguilar, K. L., additional, Cervi, M. C., additional, Martínez-Ramírez, R. O., additional, Cantillano, E. M., additional, Llamas-Guillén, B. A., additional, Velázquez-Méndez, M., additional, Saltigeral-Simental, P., additional, Criales, J., additional, Tremoulet, A. H., additional, and Rekamlatina- Mis-C Study Group Investigators, T., additional

Published
2023
Full Text
View/download PDF

10. POS0772 ´´EPIDEMIOLOGY OF JUVENILE IDIOPATHIC ARTHRITIS IN ARGENTINA: A RETROSPECTIVE STUDY´´

Author

Vidal, D., primary, Giuponni, J., additional, Guerini, L., additional, Larroulet, R. C., additional, Galindo, M. S., additional, Farfan, J., additional, Arispe, M., additional, Vilca, I., additional, Franco, L., additional, Ochoa Y Gomez, V., additional, Marcantoni, M., additional, Deves, V., additional, Zunino Pradier, F., additional, Rama, M. E., additional, Yesuron, G., additional, Torres Walsh, C., additional, Pintos, I., additional, Duarte, V., additional, and Espada, G., additional

Published
2023
Full Text
View/download PDF

11. International Consensus for the Dosing of Corticosteroids in Childhood-Onset Systemic Lupus Erythematosus With Proliferative Lupus Nephritis

Author

Chalhoub, N.E. Wenderfer, S.E. Levy, D.M. Rouster-Stevens, K. Aggarwal, A. Savani, S.I. Ruth, N.M. Arkachaisri, T. Qiu, T. Merritt, A. Onel, K. Goilav, B. Khubchandani, R.P. Deng, J. Fonseca, A.R. Ardoin, S.P. Ciurtin, C. Kasapcopur, O. Jelusic, M. Huber, A.M. Ozen, S. Klein-Gitelman, M.S. Appenzeller, S. Cavalcanti, A. Fotis, L. Lim, S.C. Silva, R.M. Miramontes, J.R. Rosenwasser, N.L. Saad-Magalhaes, C. Schonenberg-Meinema, D. Scott, C. Silva, C.A. Enciso, S. Terreri, M.T. Torres-Jimenez, A.-R. Trachana, M. Al-Mayouf, S.M. Devarajan, P. Huang, B. Brunner, H.I. Abulaban, K. Aguiar, C. Ahn, S.-Y. Akoghlanian, S. Al-Abrawi, S. Aljaberi, N. Alperin, R. Angeles-Han, S. Ardalan, K. Bader-Meunier, B. Balboni, I. Barbar-Smiley, F. Baxter, S. Beary, J. Boneparth, A. Brakeman, P. Bridges, J. Burgos-Vargas, R. Cabral, D.A. Cameto, J. Carter, C. Chang, J. Chédeville, G. Chhakchhuak, C. Chiraseveenuprapund, P. Cifuentes Alvarado, M. Concannon, A. Cooper, J. Cron, R. De Carvalho, L.M. De Quattro, K. De Ranieri, D. Dizon, B. Donnelly Wrigley, C. Duong, M.D. Eberhard, A. Ede, K. Edelheit, B. Edens, C. Espada, G. Farhey, Y. Flores, F. Fritz, D. Ganguli, S. Gilbert, M. Gittar, P. Greenbaum, L. Grom, A. Gulati, G. Harry, O. Hayward, K. Henrickson, M. Hersh, A. Hiraki, L. Hiskey, M. Hoffmann, S. Hollander, M. Hom, C. Houk, L. Houk, J.B. Hsieh, E.W.Y. Hsu, J. Jensen, P. Joos, R. Jurado, R. Jusan Fiorot, F. Kallash, M. Kamphuis, S. Keltsev, V., (deceased) Khanna, S. Kim, S. Kimseng, K.J. Knight, A. Kunder, R. Lai, J. Laskin, B. Lewandowski, L. Lim, L. Linda, W.-W. Lo, M. Lovell, D. Luggen, M. Madison, J. Mansuri, A. Martin, L. Mason, S. Miller, M. Mina, R. Mohammed, A. Moncrieffe, H. Moorthy, L. Morgan, E. Mosquera, A. Muntel, E. Muscal, E. Myones, B. Nocton, J. Ogbu, E. Okamura, D. Olson, J. Orrock, J. Paim-Marques, L. Pain, C. Park, C. Patel, P. Pereira, M. Prado, R.D. Radhakrishna, S. Rheault, M. Ridgway, W. Riskalla, M. Ronis, T. Sadun, R. Sagcal-Gironella, A.C. Santos, M.C. Schikler, K. AL Suwairi, W. Siddiqi, N. Silva, M.F. Singh-Grewal, D. Smitherman, E. Smolewska, E. Son, M.B. Srinivasalu, H. Sule, S. Susic, G. Syed, R. Thatayatikom, A. Ting, T. Toth, M. Turnier, J. Vashisht, P. Vega Fernandez, P. Velasquez, M. von Scheven, E. Wahezi, D. Ware, A. Wu, E. Yan, J. Yildirim-Toruner, C. Zamparo, C. Zhang, Y. Lawson, E. for the Childhood Arthritis Rheumatology Research Alliance Lupus Nephritis Work Group the Pediatric Rheumatology European Society Lupus Working Party

Abstract

Objective: To develop a standardized steroid dosing regimen (SSR) for physicians treating childhood-onset systemic lupus erythematosus (SLE) complicated by lupus nephritis (LN), using consensus formation methodology. Methods: Parameters influencing corticosteroid (CS) dosing were identified (step 1). Data from children with proliferative LN were used to generate patient profiles (step 2). Physicians rated changes in renal and extrarenal childhood-onset SLE activity between 2 consecutive visits and proposed CS dosing (step 3). The SSR was developed using patient profile ratings (step 4), with refinements achieved in a physician focus group (step 5). A second type of patient profile describing the course of childhood-onset SLE for ≥4 months since kidney biopsy was rated to validate the SSR-recommended oral and intravenous (IV) CS dosages (step 6). Patient profile adjudication was based on majority ratings for both renal and extrarenal disease courses, and consensus level was set at 80%. Results: Degree of proteinuria, estimated glomerular filtration rate, changes in renal and extrarenal disease activity, and time since kidney biopsy influenced CS dosing (steps 1 and 2). Considering these parameters in 5,056 patient profile ratings from 103 raters, and renal and extrarenal course definitions, CS dosing rules of the SSR were developed (steps 3–5). Validation of the SSR for up to 6 months post–kidney biopsy was achieved with 1,838 patient profile ratings from 60 raters who achieved consensus for oral and IV CS dosage in accordance with the SSR (step 6). Conclusion: The SSR represents an international consensus on CS dosing for use in patients with childhood-onset SLE and proliferative LN. The SSR is anticipated to be used for clinical care and to standardize CS dosage during clinical trials. © 2021, American College of Rheumatology

Published
2022

12. Subcutaneous Abatacept in Patients With Polyarticular-Course Juvenile Idiopathic Arthritis

Author

Brunner H. I., Tzaribachev N., Vega-Cornejo G., Louw I., Berman A., Calvo Penades I., Anton J., Avila-Zapata F., Cuttica R., Horneff G., Foeldvari I., Keltsev V., Kingsbury D. J., Viola D. O., Joos R., Lauwerys B., Paz Gastanaga M. E., Rama M. E., Wouters C., Bohnsack J., Breedt J., Fischbach M., Lutz T., Minden K., Miraval T., Ally M. M. T. M., Rubio-Perez N., Solau Gervais E., van Zyl R., Li X., Nys M., Wong R., Banerjee S., Lovell D. J., Martini A., Ruperto N., Becker M. L., Ilowite N. T., Dare J. A., Morris P. K., Beukelman T. G., Wagner-Weiner L., Zemel L., Quartier P., Kone-Paut I., Belot A., Gerloni V., Ferrandiz M., Van Rensburg D. J., Scheibel I. M., Goldstein-Schainberg C., Silva C., Terreri M. T. S. E. L. A., Gamir M., Burgos Vargas R., Faugier Fuentes E., Cimaz R., Alessio M., Espada G., Brunner, H. I., Tzaribachev, N., Vega-Cornejo, G., Louw, I., Berman, A., Calvo Penades, I., Anton, J., Avila-Zapata, F., Cuttica, R., Horneff, G., Foeldvari, I., Keltsev, V., Kingsbury, D. J., Viola, D. O., Joos, R., Lauwerys, B., Paz Gastanaga, M. E., Rama, M. E., Wouters, C., Bohnsack, J., Breedt, J., Fischbach, M., Lutz, T., Minden, K., Miraval, T., Ally, M. M. T. M., Rubio-Perez, N., Solau Gervais, E., van Zyl, R., Li, X., Nys, M., Wong, R., Banerjee, S., Lovell, D. J., Martini, A., Ruperto, N., Becker, M. L., Ilowite, N. T., Dare, J. A., Morris, P. K., Beukelman, T. G., Wagner-Weiner, L., Zemel, L., Quartier, P., Kone-Paut, I., Belot, A., Gerloni, V., Ferrandiz, M., Van Rensburg, D. J., Scheibel, I. M., Goldstein-Schainberg, C., Silva, C., Terreri, M. T. S. E. L. A., Gamir, M., Burgos Vargas, R., Faugier Fuentes, E., Cimaz, R., Alessio, M., and Espada, G.

Subjects
Male, musculoskeletal diseases, 0301 basic medicine, medicine.medical_specialty, Adolescent, genetic structures, Immunology, Juvenile, Arthritis, Injections, Subcutaneou, Abatacept, Arthritis, Juvenile, Child, Child, Preschool, Cohort Studies, Female, Humans, Immunosuppressive Agents, Injections, Subcutaneous, Treatment Outcome, Injections, Immunosuppressive Agent, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, Pharmacokinetics, Open label study, medicine, Immunology and Allergy, In patient, Preschool, skin and connective tissue diseases, 030203 arthritis & rheumatology, business.industry, Subcutaneous, medicine.disease, Dermatology, Clinical trial, 030104 developmental biology, Methotrexate, Cohort Studie, business, Human, medicine.drug
Abstract

Objective: To investigate the pharmacokinetics, effectiveness, and safety of subcutaneous (SC) abatacept treatment over 24 months in patients with polyarticular-course juvenile idiopathic arthritis (JIA). Methods: In this phase III, open-label, international, multicenter, single-arm study, patients with polyarticular JIA (cohort 1, ages 6–17 years and cohort 2, ages 2–5 years) in whom treatment with ≥1 disease-modifying antirheumatic drug was unsuccessful received weight-tiered SC abatacept weekly: 10 to

Published
2018

13. O.51 - Abatacept sous-cutané chez des patients présentant une arthrite juvénile idiopathique polyarticulaire et une réponse inadéquate aux DMARDs conventionnels ou biologiques : pharmacocinétique, efficacité et sécurité

Author

Solau-Gervais, E., Lovell, D., Ruperto, N., Tzaribachev, N., Vega-Cornejo, G., Louw, I., Berman, A., Calvo, I., Cuttica, R., Horneff, G., Avila-Zapata, F., Anton, J., Cimaz, R., Joos, R., Espada, G., Li, X., Nys, M., Wong, R., Banerjee, S., Brunner, H., and Martini, A.

Published
2016
Full Text
View/download PDF

14. INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

Author

Papa R, Lane T, Minden K, Touitou I, Cantarini L, Cattalini M, Obici L, Jansson AF, Belot A, Frenkel J, Anton-Lopez J, Wolska-Kusnierz B, Berendes R, Remesal A, Jelusic M, Hoppenreijs E, Espada G, Nikishina I, Maggio MC, Bovis F, Masini M, Youngstein T, Rezk T, Papadopoulou C, Brogan PA, Hawkins PN, Woo P, Ruperto N, Gattorno M, Lachmann HJ, and Pediatric Rheumatology International Trials Organization (PRINTO), the EUROTRAPS

Subjects
Colchicine, Autoinflammatory diseases, AA amyloidosis, TRAPS, Anakinra
Abstract

BACKGROUND: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking. OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses. METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classification in groups A (pathogenic or likely pathogenic variants), B (variants of uncertain significance or not classified variants), and C (benign or likely benign variants) and screened for Eurofever criteria. RESULTS: In group A (127 of 226 patients, 56%), all fulfilled Eurofever criteria and 20 of 127 patients (16%) developed AA amyloidosis. In group B (78 of 226 patients, 35%), 40 of 78 patients (51%) did not fulfill Eurofever criteria, displaying a lower incidence of abdominal pain (P < .02) and higher efficacy rate of on-demand nonsteroidal anti-inflammatory drugs (P 85% complete response). No patients on anti-IL-1 treatments developed AA amyloidosis, and 7 women with a history of failure to conceive had successful pregnancies. CONCLUSION: Anti-IL-1 drugs are the best maintenance treatment in patients with TRAPS. The diagnosis of TRAPS should be considered very carefully in patients of group B not fulfilling Eurofever criteria and group C, and colchicine may be preferable as the first maintenance treatment.

Published
2021

15. INSAID Variant Classification and Eurofever Criteria Guide Optimal Treatment Strategy in Patients with TRAPS: Data from the Eurofever Registry

Author

Papa, R., Lane, T., Minden, K., Touitou, I., Cantarini, L., Cattalini, M., Obici, L., Jansson, A.F., Belot, A., Frenkel, J., Anton, J., Wolska-Kusnierz, B., Berendes, R., Remesal, A., Jelusic, M., Hoppenreijs, E.P., Espada, G., Nikishina, I., Maggio, M.C., Bovis, F., Masini, M., Youngstein, T., Rezk, T., Papadopoulou, C., Brogan, P.A., Hawkins, P.N., Woo, P., Ruperto, N., Gattorno, M., Lachmann, H.J., Papa, R., Lane, T., Minden, K., Touitou, I., Cantarini, L., Cattalini, M., Obici, L., Jansson, A.F., Belot, A., Frenkel, J., Anton, J., Wolska-Kusnierz, B., Berendes, R., Remesal, A., Jelusic, M., Hoppenreijs, E.P., Espada, G., Nikishina, I., Maggio, M.C., Bovis, F., Masini, M., Youngstein, T., Rezk, T., Papadopoulou, C., Brogan, P.A., Hawkins, P.N., Woo, P., Ruperto, N., Gattorno, M., and Lachmann, H.J.

Abstract

Item does not contain fulltext, BACKGROUND: TNF receptor-associated periodic syndrome (TRAPS) is a rare autoinflammatory disease caused by dominant mutation of the TNF super family receptor 1A (TNFRSF1A) gene. Data regarding long-term treatment outcomes are lacking. OBJECTIVE: To assess correlations of genotype-phenotypes in patients with TRAPS, as defined by the International Study Group for Systemic Autoinflammatory Diseases (INSAID) classification and Eurofever criteria, with treatment responses. METHODS: Data from 226 patients with variants of the TNFRSF1A gene and enrolled in the Eurofever registry were classified according to the INSAID classification in groups A (pathogenic or likely pathogenic variants), B (variants of uncertain significance or not classified variants), and C (benign or likely benign variants) and screened for Eurofever criteria. RESULTS: In group A (127 of 226 patients, 56%), all fulfilled Eurofever criteria and 20 of 127 patients (16%) developed AA amyloidosis. In group B (78 of 226 patients, 35%), 40 of 78 patients (51%) did not fulfill Eurofever criteria, displaying a lower incidence of abdominal pain (P < .02) and higher efficacy rate of on-demand nonsteroidal anti-inflammatory drugs (P < .02) and colchicine (P < .001). Group C (21 of 226 patients, 9%) presented a milder disease (P < .02) and none fulfilled Eurofever criteria. Anti-IL-1 drugs were the most frequently used in patients fulfilling Eurofever criteria, with the highest efficacy rate (>85% complete response). No patients on anti-IL-1 treatments developed AA amyloidosis, and 7 women with a history of failure to conceive had successful pregnancies. CONCLUSION: Anti-IL-1 drugs are the best maintenance treatment in patients with TRAPS. The diagnosis of TRAPS should be considered very carefully in patients of group B not fulfilling Eurofever criteria and group C, and colchicine may be preferable as the first maintenance treatment.

Published
2021

16. Efficacy and Safety of Tocilizumab for Polyarticular-Course Juvenile Idiopathic Arthritis in the Open-Label 2-Year Extension of a Phase 3 Trial

Author

Brunner HI, Ruperto N, Zuber Z, Cuttica R, Keltsev V, Xavier RM, Burgos-Vargas R, Calvo Penades I, Silverman ED, Espada G, Ferrandiz Zavaler M, Kimura Y, Duarte C, Job-Deslandre C, Joos R, Douglass W, Wimalasundera S, Bharucha KN, Wells C, Lovell DJ, Martini A, De Benedetti F, and Paediatric Rheumatology International Trials Organisation (PRINTO), the Pediatri

Subjects
musculoskeletal diseases, skin and connective tissue diseases, Biologicals, clinical trial, juvenile idiopathic arthritis, pediatric rheumatology
Abstract

Report the 2-year efficacy and safety of tocilizumab in patients with polyarticular-course juvenile idiopathic arthritis (pcJIA).

Published
2020

18. FRI0457 LONG-TERM OUTCOMES AND TREATMENT EFFICACY IN PATIENTS WITH TNF RECEPTOR-ASSOCIATED AUTOINFLAMMATORY SYNDROME (TRAPS) FROM THE EUROFEVER INTERNATIONAL REGISTRY

Author

Papa, R., primary, Lane, T., additional, Bovis, F., additional, Minden, K., additional, Touitou, I., additional, Cantarini, L., additional, Cattalini, M., additional, Obici, L., additional, Jansson, A., additional, Belot, A., additional, Woska-Kuśnierz, B., additional, Berendes, R., additional, Remesal, A., additional, Jelusic, M., additional, Espada, G., additional, Nikishina, I., additional, Hoppenreijs, E., additional, Maggio, M. C., additional, Youngstein, T., additional, Rezk, T., additional, Papadopoulou, C., additional, Brogan, P., additional, Hawkins, P. N., additional, Woo, P., additional, Ruperto, N., additional, Gattorno, M., additional, and Lachmann, H. J., additional

Published
2020
Full Text
View/download PDF

20. Phenotypic variability and disparities in treatment and outcomes of childhood arthritis throughout the world: an observational cohort study

Author

Consolaro, A, Giancane, G, Alongi, A, van Dijkhuizen, Ehp, Aggarwal, A, Al-Mayouf, Sm, Bovis, F, De Inocencio, J, Demirkaya, E, Flato, B, Foell, D, Garay, Sm, Lazăr, C, Lovell, Dj, Montobbio, C, Miettunen, P, Mihaylova, D, Nielsen, S, Orban, I, Rumba-Rozenfelde, I, Magalhães, C, Shafaie, N, Susic, G, Trachana, M, Wulffraat, N, Pistorio, A, Martini, A, Ruperto, N, Ravelli, A &amp, Abdwani R, Aghighi, Y, Aiche, Mf, Ailioaie, C, Aktay Ayaz, N, Al-Abrawi, S, Alexeeva, E, Anton, J, Apostol, A, Arguedas, O, Avcin, T, Barone, P, Berntson, L, Boteanu, Al, Boyko, Y, Burgos-Vargas, R, Calvo Penades, I, Chédeville, G, Cimaz, R, Civino, A, Consolini, R, Constantin, T, Cuttica, R, Dallos, T, Martin, N, Magni-Manzoni, S, De Cunto, C, Dolezalova, P, Ekelund, M, El Miedany, Y, Espada, G, Estmann Christensen, A, Foeldvari, I, Gallizzi, R, Ganser, G, Gerloni, V, Haas, Jp, Harel, L, Harjacek, M, Hashad, S, Herlin, T, Herrera, C, Hofer, M, Holzinger, D, Horneff, G, Huppertz, Hi, Iagăru, N, Ibanez Estrella, A, Ioseliani, M, Joos, R, Knupp Oliveira, S, Kamphuis, S, Kasapcopur, O, Katsicas, Mm, Khubchandani, R, Kondi, A, Kröger, L, La Torre, F, Laday, M, Lahdenne, P, Maggio, Mc, Magnolia, Mg, Malagon, C, Malin, M, Martino, S, Melo-Gomes, Ja, Mesa-Del-Castillo, P, Militaru, A, Minden, K, Miniaci, A, Moradinejad, Mh, Morel Ayala, Z, Nikishina, I, Norambuena, X, Nordal, Eb, Pagava, K, Panaviene, V, Pastore, S, Pieropan, S, Podda, Ra, Pruunsild, C, Putto-Laurila, A, Quartier, P, Remesal, A, Rigante, Donato, Ringold, S, Rutkowska-Sak, L, Rygg, M, Saurenmann, Rk, Sawhney, S, Scott, C, Shiari, R, Smolewska, E, Sozeri, B, Swart, Jf, Sztajnbok, F, Torcoletti, M, Tsitsami, E, Tzaribachev, N, Unsal, E, Uziel, Y, Vähäsalo, P, Varbanova, B, Vargova, V, Vesely, R, Vijatov-Djuric, G, Vilaiyuk, S, Vojinovic, J, Vougiouka, O, Weiss, P, Wouters, C, Rigante D (ORCID:0000-0001-7032-7779), Consolaro, A, Giancane, G, Alongi, A, van Dijkhuizen, Ehp, Aggarwal, A, Al-Mayouf, Sm, Bovis, F, De Inocencio, J, Demirkaya, E, Flato, B, Foell, D, Garay, Sm, Lazăr, C, Lovell, Dj, Montobbio, C, Miettunen, P, Mihaylova, D, Nielsen, S, Orban, I, Rumba-Rozenfelde, I, Magalhães, C, Shafaie, N, Susic, G, Trachana, M, Wulffraat, N, Pistorio, A, Martini, A, Ruperto, N, Ravelli, A &amp, Abdwani R, Aghighi, Y, Aiche, Mf, Ailioaie, C, Aktay Ayaz, N, Al-Abrawi, S, Alexeeva, E, Anton, J, Apostol, A, Arguedas, O, Avcin, T, Barone, P, Berntson, L, Boteanu, Al, Boyko, Y, Burgos-Vargas, R, Calvo Penades, I, Chédeville, G, Cimaz, R, Civino, A, Consolini, R, Constantin, T, Cuttica, R, Dallos, T, Martin, N, Magni-Manzoni, S, De Cunto, C, Dolezalova, P, Ekelund, M, El Miedany, Y, Espada, G, Estmann Christensen, A, Foeldvari, I, Gallizzi, R, Ganser, G, Gerloni, V, Haas, Jp, Harel, L, Harjacek, M, Hashad, S, Herlin, T, Herrera, C, Hofer, M, Holzinger, D, Horneff, G, Huppertz, Hi, Iagăru, N, Ibanez Estrella, A, Ioseliani, M, Joos, R, Knupp Oliveira, S, Kamphuis, S, Kasapcopur, O, Katsicas, Mm, Khubchandani, R, Kondi, A, Kröger, L, La Torre, F, Laday, M, Lahdenne, P, Maggio, Mc, Magnolia, Mg, Malagon, C, Malin, M, Martino, S, Melo-Gomes, Ja, Mesa-Del-Castillo, P, Militaru, A, Minden, K, Miniaci, A, Moradinejad, Mh, Morel Ayala, Z, Nikishina, I, Norambuena, X, Nordal, Eb, Pagava, K, Panaviene, V, Pastore, S, Pieropan, S, Podda, Ra, Pruunsild, C, Putto-Laurila, A, Quartier, P, Remesal, A, Rigante, Donato, Ringold, S, Rutkowska-Sak, L, Rygg, M, Saurenmann, Rk, Sawhney, S, Scott, C, Shiari, R, Smolewska, E, Sozeri, B, Swart, Jf, Sztajnbok, F, Torcoletti, M, Tsitsami, E, Tzaribachev, N, Unsal, E, Uziel, Y, Vähäsalo, P, Varbanova, B, Vargova, V, Vesely, R, Vijatov-Djuric, G, Vilaiyuk, S, Vojinovic, J, Vougiouka, O, Weiss, P, Wouters, C, and Rigante D (ORCID:0000-0001-7032-7779)

Abstract

BACKGROUND: To our knowledge, the characteristics and burden of childhood arthritis have never been studied on a worldwide basis. We aimed to investigate, with a cross-sectional study, the prevalence of disease categories, treatment methods, and disease status in patients from across different geographical areas and from countries with diverse wealth status. METHODS: In this multinational, cross-sectional, observational cohort study, we asked international paediatric rheumatologists from specialised centres to enrol children with a diagnosis of juvenile idiopathic arthritis, according to International League of Associations for Rheumatology criteria, who were seen consecutively for a period of 6 months. Each patient underwent retrospective and cross-sectional assessments, including measures of disease activity and damage and questionnaires on the wellbeing and quality of life of the children. We qualitatively compared the collected data across eight geographical areas, and we explored an association between disease activity and damage and a country's gross domestic product (GDP) with a multiple logistic regression analysis. FINDINGS: Between April 4, 2011, and Nov 21, 2016, 9081 patients were enrolled at 130 centres in 49 countries, grouped into eight geographical areas. Systemic arthritis (125 [33·0%] of 379 patients) and enthesitis-related arthritis (113 [29·8%] of 379) were more common in southeast Asia, whereas oligoarthritis was more prevalent in southern Europe (1360 [56·7%] of 2400) and rheumatoid factor-negative polyarthritis was more frequent in North America (165 [31·5%] of 523) than in the other areas. Prevalence of uveitis was highest in northern Europe (161 [19·1%] of 845 patients) and southern Europe (450 [18·8%] of 2400) and lowest in Latin America (54 [6·4%] of 849), Africa and Middle East (71 [5·9%] of 1209), and southeast Asia (19 [5·0%] of 379). Median age at disease onset was lower in southern Europe (3·5 years, IQR 1·9-7·3) than in other regions

Published
2019

21. 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

22. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Author

Papa, R. Doglio, M. Lachmann, H.J. Ozen, S. Frenkel, J. Simon, A. Neven, B. Kuemmerle-Deschner, J. Ozgodan, H. Caorsi, R. Federici, S. Finetti, M. Trachana, M. Brunner, J. Bezrodnik, L. Pinedo Gago, M.C. Maggio, M.C. Tsitsami, E. Al Suwairi, W. Espada, G. Shcherbina, A. Aksu, G. Ruperto, N. Martini, A. Ceccherini, I. Gattorno, M.

Abstract

Background: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database (http://fmf.igh.cnrs.fr/ISSAID/infevers) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry. Results: Genotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied. Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available. Conclusions: We provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites. © 2017 The Author(s).

Published
2017

23. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers

Author

Federici S., Sormani M. P., Ozen S., Lachmann H. J., Amaryan G., Woo P., Kone-Paut I., Dewarrat N., Cantarini L., Insalaco A., Uziel Y., Rigante D., Quartier P., Demirkaya E., Herlin T., Meini A., Fabio G., Kallinich T., Martino S., Butbul A. Y., Olivieri A., Kuemmerle-Deschner J., Neven B., Simon A., Ozdogan H., Touitou I., Frenkel J., Hofer M., Martini A., Ruperto N., Gattorno M., Espada G., Russo R., De Cunto C., Boros C., Borzutzky A., Jelusic-Drazic M., Dolezalova P., Nielsen S., Hentgen V., Schwarz T., Berendes R., Jansson A., Horneff G., Papadopoulou-Alataki E., Tsitsami E., Tsakalidou F. K., Gallizzi R., Obici L., Barone P., Cimaz R., Alessio M., Nishikomori R., Stanevicha V., Hoppenreijs E., Wolska-Kusnierz B., Iagaru N., Nikishina I., Al-Mayouf S. M., Sewairi, Susic G., Toplak N., Modesto C., Elorduy M. J. R., Anton J., Bou R., Federici, S., Sormani, M. P., Ozen, S., Lachmann, H. J., Amaryan, G., Woo, P., Kone-Paut, I., Dewarrat, N., Cantarini, L., Insalaco, A., Uziel, Y., Rigante, D., Quartier, P., Demirkaya, E., Herlin, T., Meini, A., Fabio, G., Kallinich, T., Martino, S., Butbul, A. Y., Olivieri, A., Kuemmerle-Deschner, J., Neven, B., Simon, A., Ozdogan, H., Touitou, I., Frenkel, J., Hofer, M., Martini, A., Ruperto, N., Gattorno, M., Espada, G., Russo, R., De Cunto, C., Boros, C., Borzutzky, A., Jelusic-Drazic, M., Dolezalova, P., Nielsen, S., Hentgen, V., Schwarz, T., Berendes, R., Jansson, A., Horneff, G., Papadopoulou-Alataki, E., Tsitsami, E., Tsakalidou, F. K., Gallizzi, R., Obici, L., Barone, P., Cimaz, R., Alessio, M., Nishikomori, R., Stanevicha, V., Hoppenreijs, E., Wolska-Kusnierz, B., Iagaru, N., Nikishina, I., Al-Mayouf, S. M., Sewairi, Susic, G., Toplak, N., Modesto, C., Elorduy, M. J. R., Anton, J., Bou, R., Istituto Giannina Gaslini, Genova, Immunologia Clinica e Sperimentale, University of Genoa (UNIGE), Hacettepe University = Hacettepe Üniversitesi, National Amyloidosis Centre, University College London Medical School, University College of London [London] (UCL), 'ARABKIR' JOINT MEDICAL CENTER & INSTITUTE OF CHILD AND ADOLESCENT HEALTH, Cardiac Unit, Institute of Child Health (UCL), Centre de Référence des Maladies Auto-Inflammatoires et des Amyloses [CH Versailles] (CeRéMAIA - Hôpital André Mignot), Centre Hospitalier de Versailles André Mignot (CHV), University Hospital Center (CHUV) and University of Lausanne (UNIL), Lausanne, Università degli Studi di Siena = University of Siena (UNISI), Children's Hospital Bambino Gesù IRCCS [Rome], Meir Medical Centre, Università cattolica del Sacro Cuore [Roma] (Unicatt), Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Ankara University School of Medicine [Turkey], Aarhus University Hospital, Università degli Studi di Brescia [Brescia], IRCCS Istituto Nazionale dei Tumori [Milano], Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Università degli studi di Torino (UNITO), Rambam Medical Health Center, Israel., Universita degli studi di Napoli 'Parthenope' [Napoli], Universitätsklinikum Tübingen - University Hospital of Tübingen, Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, Radboud University Medical Centre [Nijmegen, The Netherlands], Cerrahpasa Faculty of Medicine, Istanbul University, CHU Montpellier, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Cellules Souches, Plasticité Cellulaire, Médecine Régénératrice et Immunothérapies (IRMB), Université de Montpellier (UM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), University Medical Center [Utrecht], Geneva University Hospital (HUG), Universita degli studi di Genova, and Olivieri, Alma Nunzia

Subjects
Male, Pediatrics, Multivariate analysis, [SDV]Life Sciences [q-bio], Fever Syndromes, Familial Mediterranean fever, Immunology and Allergy, Mevalonate Kinase Deficiency/classification/diagnosis, Registries, Child, ddc:618, Evidence-Based Medicine, Middle Aged, Pharyngitis, 3. Good health, Familial Mediterranean Fever, Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA, Child, Preschool, Autoinflammation, Familial Mediterranean Fever/classification/diagnosis, Female, medicine.symptom, Periodic fever syndrome, Inflammatory diseases Radboud Institute for Molecular Life Sciences [Radboudumc 5], Adult, medicine.medical_specialty, Fever, Adolescent, Immunology, Cryopyrin-Associated Periodic Syndromes/classification/diagnosis, Sensitivity and Specificity, General Biochemistry, Genetics and Molecular Biology, Young Adult, Inflammation, Rheumatology, medicine, Humans, Preschool, Hereditary Autoinflammatory Diseases/classification/diagnosis, Receiver operating characteristic, business.industry, Hereditary Autoinflammatory Diseases, Case-control study, Cryopyrin-associated periodic syndrome, Infant, Gold standard (test), medicine.disease, Case-Control Studies, Cryopyrin-Associated Periodic Syndromes, Mevalonate Kinase Deficiency, ROC Curve, business
Abstract

Item does not contain fulltext The objective of this work was to develop and validate a set of clinical criteria for the classification of patients affected by periodic fevers. Patients with inherited periodic fevers (familial Mediterranean fever (FMF); mevalonate kinase deficiency (MKD); tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS); cryopyrin-associated periodic syndromes (CAPS)) enrolled in the Eurofever Registry up until March 2013 were evaluated. Patients with periodic fever, aphthosis, pharyngitis and adenitis (PFAPA) syndrome were used as negative controls. For each genetic disease, patients were considered to be 'gold standard' on the basis of the presence of a confirmatory genetic analysis. Clinical criteria were formulated on the basis of univariate and multivariate analysis in an initial group of patients (training set) and validated in an independent set of patients (validation set). A total of 1215 consecutive patients with periodic fevers were identified, and 518 gold standard patients (291 FMF, 74 MKD, 86 TRAPS, 67 CAPS) and 199 patients with PFAPA as disease controls were evaluated. The univariate and multivariate analyses identified a number of clinical variables that correlated independently with each disease, and four provisional classification scores were created. Cut-off values of the classification scores were chosen using receiver operating characteristic curve analysis as those giving the highest sensitivity and specificity. The classification scores were then tested in an independent set of patients (validation set) with an area under the curve of 0.98 for FMF, 0.95 for TRAPS, 0.96 for MKD, and 0.99 for CAPS. In conclusion, evidence-based provisional clinical criteria with high sensitivity and specificity for the clinical classification of patients with inherited periodic fevers have been developed.

Published
2015

25. MULTISYSTEM INFLAMMATORY SYNDROME IN CHILDREN ACROSS 16 LATIN AMERICAN COUNTRIES: A MULTICENTER STUDY FROM THE REKAMLATINA NETWORK.

Author

Garcia-Silva, J., Ulloa-Gutierrez, R., Escoto, G. Ivankovich, Yamazaki-Nakashimada, M. A., Fuentes, E. Faugier, Del Águila, O., Villlarreal, A. V., Moreno, G. Camacho, Estripeaut, D., Gutiérrez, I. F., Castillo-Bustamante, D., Luciani, K., Fabi, M., Espada, G., Pringue, A., Álvarez-Olmos, M. I., Silfa, C., García-Domínguez, M., Pérez-Camacho, P., and Duarte-Passos, S.

Published
2023
Full Text
View/download PDF

26. A web-based collection of genotype-phenotype associations in hereditary recurrent fevers from the Eurofever registry

Author

Papa, R., Doglio, M., Lachmann, H.J., Ozen, S., Frenkel, J., Simon, A., Neven, B., Kuemmerle-Deschner, J., Ozgodan, H., Caorsi, R., Federici, S., Finetti, M., Trachana, M., Brunner, J., Bezrodnik, L., Pinedo Gago, M.C., Maggio, M.C., Tsitsami, E., Suwairi, W. Al, Espada, G., Shcherbina, A., Aksu, G., Ruperto, N., Martini, A., Ceccherini, I., Gattorno, M., Papa, R., Doglio, M., Lachmann, H.J., Ozen, S., Frenkel, J., Simon, A., Neven, B., Kuemmerle-Deschner, J., Ozgodan, H., Caorsi, R., Federici, S., Finetti, M., Trachana, M., Brunner, J., Bezrodnik, L., Pinedo Gago, M.C., Maggio, M.C., Tsitsami, E., Suwairi, W. Al, Espada, G., Shcherbina, A., Aksu, G., Ruperto, N., Martini, A., Ceccherini, I., and Gattorno, M.

Abstract

Contains fulltext : 181711.pdf (publisher's version ) (Open Access), BACKGROUND: Hereditary recurrent fevers (HRF) are a group of rare monogenic diseases leading to recurrent inflammatory flares. A large number of variants has been described for the four genes associated with the best known HRF, namely MEFV, NLRP3, MVK, TNFRSF1A. The Infevers database ( http://fmf.igh.cnrs.fr/ISSAID/infevers ) is a large international registry collecting variants reported in these genes. However, no genotype-phenotype associations are provided, but only the clinical phenotype of the first patient(s) described for each mutation. The aim of this study is to develop a registry of genotype-phenotype associations observed in patients with HRF, enrolled and validated in the Eurofever registry. RESULTS: Genotype-phenotype associations observed in all the patients with HRF enrolled in the Eurofever registry were retrospectively analyzed. For autosomal dominant diseases (CAPS and TRAPS), all mutations were individually analyzed. For autosomal recessive diseases (FMF and MKD), homozygous and heterozygous combinations were described. Mean age of onset, disease course (recurrent or chronic), mean duration of fever episodes, clinical manifestations associated with fever episodes, atypical manifestations, complications and response to treatment were also studied. Data observed in 751 patients (346 FMF, 133 CAPS, 114 MKD, 158 TRAPS) included in the Eurofever registry and validated by experts were summarized in Tables. A total of 149 variants were described: 46 TNFRSF1A and 27 NLRP3 variants, as well as various combinations of 48 MVK and 28 MEFV variants were available. CONCLUSIONS: We provide a potentially useful tool for physicians dealing with HRF, namely a registry of genotype-phenotype associations for patients enrolled in the Eurofever registry. This tool is complementary to the Infevers database and will be available at the Eurofever and Infevers websites.

Published
2017

27. 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, C, Sanner, H, Sawhney, S, Sewairi, Wm, Shakoory, B, Shenoi, S, Clovis, A, 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, Zletni M., On Behalf Of The Pediatric Rheumatology International Trials Organization, The Childhood Arthritis &amp, Rheumatology Research, Alliance, The Pediatric Rheumatology Collaborative Study Group And The Histiocyte, Society, Rigante D (ORCID:0000-0001-7032-7779), 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, C, Sanner, H, Sawhney, S, Sewairi, Wm, Shakoory, B, Shenoi, S, Clovis, A, 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, Zletni M., On Behalf Of The Pediatric Rheumatology International Trials Organization, The Childhood Arthritis &amp, Rheumatology Research, Alliance, The Pediatric Rheumatology Collaborative Study Group And The Histiocyte, Society, and Rigante D (ORCID:0000-0001-7032-7779)

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
2017

28. 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

Minoia, F, Bovis, F, Davì, S, Insalaco, A, Lehmberg, K, Shenoi, S, Weitzman, S, Espada, G, Gao, Yj, Anton, J, Kitoh, T, Kasapcopur, O, Sanner, H, Merino, R, Astigarraga, I, Alessio, M, Jeng, M, Chasnyk, V, Nichols, Ke, Huasong, Z, Li, C, Micalizzi, C, Ruperto, N, Martini, A, Cron, Rq, Ravelli, A, Horne, A, Abinun, M, Aggarwal, A, Akikusa, J, Al Mayouf, S, Apaz, Mt, Avcin, T, Ayaz, Na, 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, Em, Enciso, S, Fischbach, M, Frosch, M, Gallizzi, R, Gamir, Ml, Griffin, T, Grom, A, Hashad, S, Hennon, T, Henter, Ji, Horneff, G, Huber, A, Ilowite, N, Ioseliani, M, Kapović, Am, Khubchandani, R, Koné Paut, I, de Oliveira, Skf, Lattanzi, B, Lepore, L, Lipton, Jm, Magni Manzoni, S, Maritsi, D, Mccurdy, D, Miettunen, P, Mulaosmanovic, V, Nielsen, S, Ozen, S, Pal, P, Prahalad, S, Rigante, Donato, Rumba Rozenfelde, I, Russo, R, Magalhães, C, Sewairi, Wm, Artur Silva, C, Stanevicha, V, Sterba, G, Stine, Kc, Susic, G, Sztajnbok, F, Takei, S, Trauzeddel, R, Tsitsami, E, Unsal, E, Uziel, Y, Vougiouka, O, Wallace, Ca, Weaver, L, Weiss J, E, Wouters, C, Wulffraat, N, Zletni, M, Aricò, M, Egeler, Rm, Filipovich, Ah, Gadner, H, Imashuku, S, Janka, G, Ladisch, S, Mcclain, Kl, Webb, D., Rigante, Donato (ORCID:0000-0001-7032-7779), Minoia, F, Bovis, F, Davì, S, Insalaco, A, Lehmberg, K, Shenoi, S, Weitzman, S, Espada, G, Gao, Yj, Anton, J, Kitoh, T, Kasapcopur, O, Sanner, H, Merino, R, Astigarraga, I, Alessio, M, Jeng, M, Chasnyk, V, Nichols, Ke, Huasong, Z, Li, C, Micalizzi, C, Ruperto, N, Martini, A, Cron, Rq, Ravelli, A, Horne, A, Abinun, M, Aggarwal, A, Akikusa, J, Al Mayouf, S, Apaz, Mt, Avcin, T, Ayaz, Na, 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, Em, Enciso, S, Fischbach, M, Frosch, M, Gallizzi, R, Gamir, Ml, Griffin, T, Grom, A, Hashad, S, Hennon, T, Henter, Ji, Horneff, G, Huber, A, Ilowite, N, Ioseliani, M, Kapović, Am, Khubchandani, R, Koné Paut, I, de Oliveira, Skf, Lattanzi, B, Lepore, L, Lipton, Jm, Magni Manzoni, S, Maritsi, D, Mccurdy, D, Miettunen, P, Mulaosmanovic, V, Nielsen, S, Ozen, S, Pal, P, Prahalad, S, Rigante, Donato, Rumba Rozenfelde, I, Russo, R, Magalhães, C, Sewairi, Wm, Artur Silva, C, Stanevicha, V, Sterba, G, Stine, Kc, Susic, G, Sztajnbok, F, Takei, S, Trauzeddel, R, Tsitsami, E, Unsal, E, Uziel, Y, Vougiouka, O, Wallace, Ca, Weaver, L, Weiss J, E, Wouters, C, Wulffraat, N, Zletni, M, Aricò, M, Egeler, Rm, Filipovich, Ah, Gadner, H, Imashuku, S, Janka, G, Ladisch, S, Mcclain, Kl, Webb, D., and Rigante, Donato (ORCID:0000-0001-7032-7779)

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 <1% for a score of <11 to >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

29. 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

30. Therapeutic approaches for the treatment of renal disease in juvenile systemic lupus erythematosus: an international multicentre PRINTO study

Author

Miettunen PM, Pistorio A, Palmisani E, Ravelli A, Silverman E, Oliveira S, Cuttica R, Mihaylova D, Espada G, Pasic S, Insalaco A, Ozen S, Porras O, Sztajnbok F, Lazarevic D, Martini A, Ruperto N, for the Paediatric Rheumatology International Trials O.r.g.a.n.i.s.a.t.i.o.n., ALESSIO, MARIA, Miettunen, Pm, Pistorio, A, Palmisani, E, Ravelli, A, Silverman, E, Oliveira, S, Alessio, Maria, Cuttica, R, Mihaylova, D, Espada, G, Pasic, S, Insalaco, A, Ozen, S, Porras, O, Sztajnbok, F, Lazarevic, D, Martini, A, Ruperto, N, and for the Paediatric Rheumatology International Trials, O. r. g. a. n. i. s. a. t. i. o. n.

Abstract

Objectives: To evaluate therapeutic approaches and response to therapy in juvenile systemic lupus erythematosus (SLE) with renal involvement in a large prospective international cohort from four geographic areas. Methods: New onset and flared patients with active renal disease (proteinuria ≥0.5 g/24 h) were enrolled in 2001-2004. Therapeutic approaches and disease activity parameters were analysed at baseline, 6, 12 and 24 months. Response was assessed by the PRINTO/ACR criteria. Results: 218/557 (79.8% female subjects, 117 new onset and 101 flared) patients with active renal disease were identified; 66 patients were lost to follow-up and 11 died. Mean age at disease onset for new onset group was higher than for flared group (13.1 vs 10.2 years, p

Published
2013

31. Therapeutic Approaches for the Treatment of New Onset and Flared Juvenile Systemic Lupus Erythematosus with Active Renal Disease: An International Multicenter PRINTO Study

Author

Miettunen P, Pistorio A, Ravelli A, Oliveira S, Cuttica R, Mihaylova D, Espada G, Pasic S, Cortis E, Ozen S, Porras O, Sztajnbok F, Martini A, Ruperto N., ALESSIO, MARIA, Miettunen, P, Pistorio, A, Ravelli, A, Oliveira, S, Alessio, Maria, Cuttica, R, Mihaylova, D, Espada, G, Pasic, S, Cortis, E, Ozen, S, Porras, O, Sztajnbok, F, Martini, A, and Ruperto, N.

Published
2011

32. Tumor necrosis factor-alpha blocker in treatment of juvenile idiopathic arthritis-associated uveitis refractory to second-line agents: results of a multinational survey

Author

FOELDVARI I., NIELSEN S., KUMMERLE DESCHNER J., ESPADA G., HORNEFF G., BICA B., OLIVIERI, Alma Nunzia, WIERK A., SAURENMANN R., Foeldvari, I., Nielsen, S., KUMMERLE DESCHNER, J., Espada, G., Horneff, G., Bica, B., Olivieri, Alma Nunzia, Wierk, A., and Saurenmann, R.

Subjects
JUVENILE IDIOPATHIC ARTHRITIS, TUMOR NECROSIS FACTOR ALFA ANTAGONIST
Abstract

T Objective. Uveitis occurs in l09i»l5% of patients with juvenile idiopathic arthritis (JIA). If topical treatment fails, second—Iine agents are used to control the dismse. However, some patients need the addition of tumor necrosis factor»ot (TNF»ot) antagonist (anti-TNF). We organized a cross»sectional cohort to investigate use and efficacy of anti—TNF treatment in patients with JIA-associated uveitis. Methods. The international pediatric rheumatology community was queried about the use and efficacy of anti-TNF in treatment of HA»associated uveitis using an E-mail survey. Results. Of the 33 responding centers following 884 patients with uveitis, only 15 centers, following 404 patients, were using anti—TNF for this indication. A total of 47 patients with JIA-related uveitis treated with anti-TNF because of an insufficient response to previous therapy were reported. The mean age of the patients was 12.5 years The mean duration from onset of uveitis to start of anti-TNF t;reat~ ment was 45.1 months. Three different anti-TNF agents were used: etanercept in 34 cases, infliximab in 25 cases, and adalimumab in 3 cases. In 12 of the 34 patients etanercept was inefficacious and patients were switched to inflixirnab. The final response was rated according to a composite index as 53%/ 12%/32%, and according to physician rating as 47%/ l2%/38% representing good, moderate, and poor, respectively. in the etaneicept group; and 70%/30%/0% and 68%/24%/0% in the intliximab group. All 3 patients taking adaliniumab were responders. lntliximab was statistically significantly more efficacious for the treatment of HA-associated uveitis than etanercept (chi-square p = 0.004). Conclusion. Anti—TNF seems to be an effective treatment for refractory .llA—associated uveitis. In this cohort infliximab was more efficacious than etanercepr.

Published
2007

33. Abatacept sous-cutané chez des patients présentant une arthrite juvénile idiopathique polyarticulaire et une réponse inadéquate aux DMARDs conventionnels ou biologiques: pharmacocinétique, efficacité et sécurité

Author

Solau-Gervais, E., primary, Lovell, D., additional, Ruperto, N., additional, Tzaribachev, N., additional, Vega-Cornejo, G., additional, Louw, I., additional, Berman, A., additional, Calvo, I., additional, Cuttica, R., additional, Horneff, G., additional, Avila-Zapata, F., additional, Anton, J., additional, Cimaz, R., additional, Joos, R., additional, Espada, G., additional, Li, X., additional, Nys, M., additional, Wong, R., additional, Banerjee, S., additional, Brunner, H., additional, and Martini, A., additional

Published
2016
Full Text
View/download PDF

34. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review

Author

Haar, Nienke Ter, Lachmann, Helen, Özen, Seza, Woo, Pat, Uziel, Yosef, Modesto, Consuelo, Koné Paut, Isabelle, Cantarini, Luca, Insalaco, Antonella, Neven, Bénédicte, Hofer, Michael, Rigante, Donato, Al Mayouf, Sulaiman, Touitou, Isabelle, Gallizzi, Romina, Papadopoulou Alataki, Efimia, Martino, Silvana, Kuemmerle Deschner, Jasmin, Obici, Laura, Iagaru, Nicolae, Simon, Anna, Nielsen, Susan, Martini, Alberto, Ruperto, Nicolino, Gattorno, Marco, Frenkel, Joost, Kondi, A, De Cunto, C, Espada, G, Russo, R, Amaryan, G, Boros, C, Wouters, C, de Oliveira SK, Borzutzky, A, Jelusic Drazic, M, Dolezalova, P, Herlin, T, Desjonqueres, M, Djeddi, D, Hentgen, V, Darce, M, Ioseliani, M, Berendes, R, Horneff, G, Jansson, A, Minden, K, Schwarz, T, Trauzeddel, R, Kanakoudi Tsakalidou, F, Vougiouka, O, Constantin, T, Rao, Ap, Brik, R, Harel, L, Alessio, M, Breda, L, Cimaz, R, Consolini, Rita, Fabio, G, Garozzo, R, Lepore, L, Manna, R, Meini, A, Olivieri, An, Stanevicha, V, Rusoniene, S, Hoppenreijs, E, Al Abrawi Sy, Nikishina, I, Sewairi, Wm, Susic, G, Ciznar, P, Avcin, T, Anton, J, Bou, R, Merino, R, Elorduy, Mj, Fasth, A, Aksu, G, Demirkaya, E., Ter Haar, N., Lachmann, H., Özen, S., Woo, P., Uziel, Y., Modesto, C., Koné Paut, I., Cantarini, L., Insalaco, A., Neven, B., Hofer, M., Rigante, D., Al Mayouf, S., Touitou, I., Gallizzi, R., Papadopoulou Alataki, E., Martino, S., Kuemmerle Deschner, J., Obici, L., Iagaru, N., Simon, A., Nielsen, S., Martini, A., Ruperto, N., Gattorno, M., Frenkel, J., and Olivieri, Alma Nunzia

Subjects
Genetics and Molecular Biology (all), medicine.medical_specialty, PFAPA syndrome, Immunology, autoinflammatory diseases, Eurofever, Registry, Familial Mediterranean fever, Disease, Biochemistry, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Rheumatology, autoinflammatory disease, Internal medicine, Acne Vulgaris, medicine, Immunology and Allergy, Humans, Registries, 030304 developmental biology, 030203 arthritis & rheumatology, 0303 health sciences, Arthritis, Infectious, Mevalonate kinase deficiency, business.industry, Hyper-IgD syndrome, Arthritis, Settore MED/09 - MEDICINA INTERNA, Infectious, Cryopyrin-associated periodic syndrome, medicine.disease, Cryopyrin-Associated Periodic Syndromes, Pyoderma Gangrenosum, 3. Good health, Familial Mediterranean Fever, Pathogenesis and modulation of inflammation [N4i 1], Europe, TNF receptor associated periodic syndrome, Mevalonate Kinase Deficiency, Biochemistry, Genetics and Molecular Biology (all), business
Abstract

Item does not contain fulltext OBJECTIVE: To evaluate the response to treatment of autoinflammatory diseases from an international registry and an up-to-date literature review. METHODS: The response to treatment was studied in a web-based registry in which clinical information on anonymised patients with autoinflammatory diseases was collected retrospectively as part of the Eurofever initiative. Participating hospitals included paediatric rheumatology centres of the Paediatric Rheumatology International Trial Organisation network and adult centres with a specific interest in autoinflammatory diseases. The following diseases were included: familial Mediterranean fever (FMF), cryopyrin-associated periodic syndromes (CAPS), tumour necrosis factor (TNF)-receptor associated periodic syndrome (TRAPS), mevalonate kinase deficiency (MKD), pyogenic arthritis pustulosis acne (PAPA) syndrome, deficiency of interleukin-1 receptor antagonist (DIRA), NLRP12-related periodic fever and periodic fever aphthosis pharyngitis adenitis (PFAPA) syndrome. Cases were independently validated by experts for each disease. A literature search regarding treatment of the abovementioned diseases was also performed using Medline and Embase. RESULTS: 22 months from the beginning of the enrolment, complete information on 496 validated patients was available. Data from the registry in combination with evidence from the literature confirmed that colchicine is the treatment of choice for FMF and IL-1 blockade for DIRA and CAPS. Corticosteroids on demand probably represent a valid therapeutic strategy for PFAPA, but also for MKD and TRAPS. Patients with poorly controlled MKD, TRAPS, PAPA or FMF may benefit from IL-1 blockade; anti-TNF treatment may represent a possible valuable alternative. CONCLUSIONS: In the absence of high-grade evidence, these results could serve as a basis for therapeutic guidelines and to identify candidate drugs for future therapeutic trials.

Published
2013

37. OP0270 Further Validation of the Hybrid MMT/CMAS (HMC), A New Measure of Muscle Disease Activity in Juvenile Dermatomyositis

Author

Varnier, G.C., primary, Consolaro, A., additional, Pilkington, C., additional, Ferrari, C., additional, Civino, A., additional, de Inocencio, J., additional, Jelusic Drazic, M., additional, Tsitsamis, E., additional, Vojinovic, J., additional, Espada, G., additional, Makay, B., additional, Martini, A., additional, and Ravelli, A., additional

Published
2015
Full Text
View/download PDF

38. 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
Full Text
View/download PDF

39. OP0150 Development and Preliminary Validation of a New Composite Disease Activity Measure for Juvenile Dermatomyositis

Author

Consolaro, A., primary, Varnier, G.C., additional, Ferrari, C., additional, de Inocencio, J., additional, Civino, A., additional, Jeluzic-Drazic, M., additional, Tsitsamis, E., additional, Vojinovic, J., additional, Makay, B., additional, Espada, G., additional, Malattia, C., additional, Maillard, S., additional, Martini, A., additional, Pilkington, C., additional, Ravelli, A., additional, and Nistala, K., additional

Published
2015
Full Text
View/download PDF

40. The PRINTO provisional criteria for the evaluation of response to therapy in juvenile dermatomyositis

Author

Ruperto, N., Pistorio, A., Ravelli, A., Rider, L. G., Pilkington, C., Oliveira, S., Wulffraat, N., Espada, G., Garay, S., Cuttica, R., Hofer, M., Quartier, P., Melo-Gomes, J., Reed, A. M., Wierzbowska, M., Feldman, B. M., Harjacek, M., Huppertz, H. I., Nielsen, S., Flato, B., Lahdenne, P., Michels, H., Murray, K. J., Punaro, L., Rennebohm, R., Russo, R., Balogh, Z., Rooney, M., Pachman, L. M., Wallace, C., Hashkes, P., Lovell, D. J., Giannini, E. H., Gare, B. A., Martini, A., Paediatric Rheumatology International Trials Organisation (PRINTO), and Pediatric Rheumatology Collaborative Study Group (PRCSG)

Published
2010

42. Blau syndrome: cross-sectional data from a multicentre study of clinical, radiological and functional outcomes

Author

Rose, C. D., primary, Pans, S., additional, Casteels, I., additional, Anton, J., additional, Bader-Meunier, B., additional, Brissaud, P., additional, Cimaz, R., additional, Espada, G., additional, Fernandez-Martin, J., additional, Hachulla, E., additional, Harjacek, M., additional, Khubchandani, R., additional, Mackensen, F., additional, Merino, R., additional, Naranjo, A., additional, Oliveira-Knupp, S., additional, Pajot, C., additional, Russo, R., additional, Thomee, C., additional, Vastert, S., additional, Wulffraat, N., additional, Arostegui, J. I., additional, Foley, K. P., additional, Bertin, J., additional, and Wouters, C. H., additional

Published
2014
Full Text
View/download PDF

43. Catch-up growth during tocilizumab therapy for systemic juvenile idiopathic arthritis: 2-year data from a phase 3 clinical trial

Author

De Benedetti, F., primary, Ruperto, N., additional, Espada, G., additional, Gerloni, V., additional, Flato, B., additional, Horneff, G., additional, Myones, B. L., additional, Onel, K., additional, Frane, J., additional, Wang, J., additional, Lipman, T. H., additional, Bharucha, K. N., additional, and Martini, A., additional

Published
2014
Full Text
View/download PDF

44. 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
Full Text
View/download PDF

45. PW03-016 – Blau prospective cohort study: articular outcomes

Author

Rose, CD, primary, Cimaz, R, additional, Thomee, C, additional, Khubchandani, R, additional, Espada, G, additional, Russo, R, additional, Harjacek, M, additional, Bader-Meunier, B, additional, Brissaud, P, additional, Wulffraat, N, additional, Vastert, S, additional, Merino, R, additional, Naranjo-Hernandez, A, additional, Oliveira-Knupp, S, additional, Mackensen, F, additional, Arostegui, J, additional, Anton, J, additional, Fernandez-Martin, J, additional, and Wouters, C, additional

Published
2013
Full Text
View/download PDF

46. OR3-002 – Blau Syndrome cohort study: ocular outcome

Author

Rose, CD, primary, Cimaz, R, additional, Thomee, C, additional, Khubchandani, R, additional, Espada, G, additional, Russo, R, additional, Harjacek, M, additional, Bader-Meunier, B, additional, Brissaud, P, additional, Wulffraat, N, additional, Vastert, S, additional, Merino, R, additional, Naranjo-Hernandez, A, additional, Knupp, S Oliveira, additional, Mackenson, F, additional, Arostegui, J, additional, Lopez, J Anton, additional, Fernandez-Martin, J, additional, and Wouters, C, additional

Published
2013
Full Text
View/download PDF

47. THU0210 The comparison of childhood polyarteritis nodosa and cutaneous polyarteritis NODOSA

Author

Demirkaya, E., primary, Turker, T., additional, Ruperto, N., additional, Cuttica, R., additional, Brogan, P., additional, Quartier, P., additional, Anton, J., additional, Ayaz, N., additional, Garay, S., additional, Espada, G., additional, Khubchandani, R., additional, Zulian, F., additional, Bagga, A., additional, Belot, A., additional, Silva, C.A., additional, Al-Mayouf, S.M., additional, Estrella, A.I., additional, Oliveira, S., additional, Magalhães, C.S., additional, Martini, A., additional, and Ozen, S., additional

Published
2013
Full Text
View/download PDF

48. SAT0438 Catch-Up Growth During Tocilizumab Therapy for Systemic Juvenile Idiopathic Arthritis: 2-Year Data from a Phase 3 Clinical Trial

Author

De Benedetti, F., primary, Ruperto, N., additional, Espada, G., additional, Gerloni, V., additional, Flato, B., additional, Horneff, G., additional, Myones, B., additional, Onel, K., additional, Frane, J., additional, Wang, J., additional, Lipman, T., additional, Bharucha, K., additional, Martini, A., additional, and Lovell, D., additional

Published
2013
Full Text
View/download PDF

49. Oral Abstracts 3: Adolescent and Young Adult * O13. Hypermobility is a Risk Factor for Musculoskeletal Pain in Adolescence: Findings From a Prospective Cohort Study

Author

Tobias, J., primary, Deere, K., additional, Palmer, S., additional, Clark, E., additional, Clinch, J., additional, Fikree, A., additional, Aktar, R., additional, Wellstead, G., additional, Knowles, C., additional, Grahame, R., additional, Aziz, Q., additional, Amaral, B., additional, Murphy, G., additional, Ioannou, Y., additional, Isenberg, D. A., additional, Tansley, S. L., additional, Betteridge, Z. E., additional, Gunawardena, H., additional, Shaddick, G., additional, Varsani, H., additional, Wedderburn, L., additional, McHugh, N., additional, De Benedetti, F., additional, Ruperto, N., additional, Espada, G., additional, Gerloni, V., additional, Flato, B., additional, Horneff, G., additional, Myones, B. L., additional, Onel, K., additional, Frane, J., additional, Kenwright, A., additional, Lipman, T. H., additional, Bharucha, K. N., additional, Martini, A., additional, Lovell, D. J., additional, Baildam, E., additional, Brunner, H., additional, Zuber, Z., additional, Keane, C., additional, Harari, O., additional, Cuttica, R. J., additional, Keltsev, V., additional, Xavier, R., additional, Penades, I. C., additional, Nikishina, I., additional, Rubio-Perez, N., additional, Alekseeva, E., additional, Chasnyk, V., additional, Chavez, J., additional, Opoka-Winiarska, V., additional, Quartier, P., additional, Silva, C. A., additional, Silverman, E. D., additional, Spindler, A., additional, Hendry, G. J., additional, Watt, G. F., additional, Brandon, M., additional, Friel, L., additional, Turner, D., additional, Lorgelly, P. K., additional, Gardner-Medwin, J., additional, Sturrock, R. D., additional, Woodburn, J., additional, Firth, J., additional, Waxman, R., additional, Law, G., additional, Siddle, H., additional, Nelson, A. E., additional, Helliwell, P., additional, Otter, S., additional, Butters, V., additional, Loughrey, L., additional, Alcacer-Pitarch, B., additional, Tranter, J., additional, Davies, S., additional, Hryniw, R., additional, Lewis, S., additional, Baker, L., additional, Dures, E., additional, Hewlett, S., additional, Ambler, N., additional, Clarke, J., additional, Gooberman-Hill, R., additional, Jenkins, R., additional, Wilkie, R., additional, Bucknall, M., additional, Jordan, K., additional, McBeth, J., additional, Norton, S., additional, Walsh, D., additional, Kiely, P., additional, Williams, R., additional, Young, A., additional, Harkess, J. E., additional, McAlarey, K., additional, Chesterton, L., additional, van der Windt, D. A., additional, Sim, J., additional, Lewis, M., additional, Mallen, C. D., additional, Mason, E., additional, Hay, E., additional, Clarson, L. E., additional, Hider, S. L., additional, Belcher, J., additional, Heneghan, C., additional, Roddy, E., additional, Gibson, J., additional, Whiteford, S., additional, Williamson, E., additional, Beatty, S., additional, Hamilton-Dyer, N., additional, Healey, E. L., additional, Ryan, S., additional, McHugh, G. A., additional, Main, C. J., additional, Porcheret, M., additional, Nio Ong, B., additional, Pushpa-Rajah, A., additional, Dziedzic, K. S., additional, MacRae, C. S., additional, Shortland, A., additional, Lewis, J., additional, Morrissey, M., additional, Critchley, D., additional, Muller, S., additional, Helliwell, T., additional, Cole, Z., additional, Parsons, C., additional, Crozier, S., additional, Robinson, S., additional, Taylor, P., additional, Inskip, H., additional, Godfrey, K., additional, Dennison, E., additional, Harvey, N. C., additional, Cooper, C., additional, Prieto Alhambra, D., additional, Lalmohamed, A., additional, Abrahamsen, B., additional, Arden, N., additional, de Boer, A., additional, Vestergaard, P., additional, de Vries, F., additional, Kendal, A., additional, Carr, A., additional, Prieto-Alhambra, D., additional, Judge, A., additional, Chapurlat, R., additional, Bellamy, N., additional, Czerwinski, E., additional, Pierre Devogelaer, J., additional, March, L., additional, Pavelka, K., additional, Reginster, J.-Y., additional, Kiran, A., additional, Javaid, M. K., additional, Sundy, J. S., additional, Baraf, H. S., additional, Becker, M., additional, Treadwell, E. L., additional, Yood, R., additional, and Ottery, F. D., additional

Published
2013
Full Text
View/download PDF

50. Efficacy and safety of tocilizumab (TCZ) in patients with systemic juvenile idiopathic arthritis (SJIA): tender 52-week data

Author

De Benedetti, F, primary, Brunner, H, additional, Ruperto, N, additional, Schneider, R, additional, Woo, P, additional, Burgos-Vargas, R, additional, Dolezalova, P, additional, Joos, R, additional, Wulffraat, N, additional, Zuber, Z, additional, Zulian, F, additional, Allen, R, additional, Brown, D, additional, Chaitow, J, additional, Pardeo, M, additional, Espada, G, additional, Flato, B, additional, Gerloni, V, additional, Horneff, G, additional, Wright, S, additional, Kenwright, A, additional, Lovell, D, additional, and Martini, A, additional

Published
2011
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results