39 results on '"Horneff, G."'
Search Results
2. Opportunistic infections in immunosuppressed patients with juvenile idiopathic arthritis: analysis by the Pharmachild Safety Adjudication Committee
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Giancane G1, Swart JF2, Castagnola E3, Groll AH4, Horneff G5, 6, Huppertz HI7, Lovell DJ8, Wolfs T2, Herlin T9, Dolezalova P10, Sanner H11, Susic G13, Sztajnbok F14, Maritsi D15, Constantin T16, Vargova V17, Sawhney S18, Rygg M19, K Oliveira S21, Cattalini M22, Bovis F1, Bagnasco F1, Pistorio A23, Martini A24, Wulffraat N2, Ruperto N25, Paediatric Rheumatology International Trials Organisation (PRINTO). Cuttica R, Garay SM, Brunner J, Emminger W, Appenzeller S, Len C, Saad Magalhaes C, Telcharova-Mihaylovska A, Harjacek M, Jelusic M, Estmann A, Nielsen S, Herrera Mora C, Gervais E, Koné-Paut I, Quartier P, Foeldvari I, Horneff G, Lutz T, Minden K, Tzaribachev N, Trachana M, Tsitsami E, Vougiouka O, Orban I, Harel L, Hashkes P, Uziel Y, Cimaz R, Civino A, Consolini R, D'Angelo G, De Benedetti F, Filocamo G, Fueri E, Gallizzi R, Maggio MC, Magnolia MG, Miniaci A, Montin D, Olivieri A. N., Pastore S, Rigante D, Zulian F, Rumba-Rozenfelde I, Stanevicha V, Panaviene V, Rodriguez Lozano AL, Rubio-Perez N, Vega Cornejo G, Hoppenreijs E, Kamphuis S, Flato B, Nordal EB, Abdwani R, Miraval T, Paz Gastanaga ME, Smolewska E, Ailioaie C, Cochino AV, Laday M, Lazar C, Alexeeva E, Chasnyk V, Keltsev V, Suwairi WMS, Vijatov-Djuric G, Vojinovic J, Arkachaisri T, Koskova E, Avcin T, Ally M, Van Rensburg CJ, Louw I, Lopez JA, Boteanu AL, Calvo Penades I, De Inocencio J, Mesa-Del-Castillo P, Moreno E, Remesal A, Hofer M, Gok F, Ozen S, Ramanan A, Pallotti C, Villa L., Giancane, G1, Swart, Jf2, Castagnola, E3, Groll, Ah4, Horneff, G5, Huppertz, Hi7, Lovell, Dj8, Wolfs, T2, Herlin, T9, Dolezalova, P10, Sanner, H11, Susic, G13, Sztajnbok, F14, Maritsi, D15, Constantin, T16, Vargova, V17, Sawhney, S18, Rygg, M19, K Oliveira, S21, Cattalini, M22, Bovis, F1, Bagnasco, F1, Pistorio, A23, Martini, A24, Wulffraat, N2, Ruperto, N25, Paediatric Rheumatology International Trials Organisation (PRINTO)., Cuttica R, Garay, Sm, Brunner, J, Emminger, W, Appenzeller, S, Len, C, Saad Magalhaes, C, Telcharova-Mihaylovska, A, Harjacek, M, Jelusic, M, Estmann, A, Nielsen, S, Herrera Mora, C, Gervais, E, Koné-Paut, I, Quartier, P, Foeldvari, I, Horneff, G, Lutz, T, Minden, K, Tzaribachev, N, Trachana, M, Tsitsami, E, Vougiouka, O, Orban, I, Harel, L, Hashkes, P, Uziel, Y, Cimaz, R, Civino, A, Consolini, R, D'Angelo, G, De Benedetti, F, Filocamo, G, Fueri, E, Gallizzi, R, Maggio, Mc, Magnolia, Mg, Miniaci, A, Montin, D, Olivieri, A. N., Pastore, S, Rigante, D, Zulian, F, Rumba-Rozenfelde, I, Stanevicha, V, Panaviene, V, Rodriguez Lozano, Al, Rubio-Perez, N, Vega Cornejo, G, Hoppenreijs, E, Kamphuis, S, Flato, B, Nordal, Eb, Abdwani, R, Miraval, T, Paz Gastanaga, Me, Smolewska, E, Ailioaie, C, Cochino, Av, Laday, M, Lazar, C, Alexeeva, E, Chasnyk, V, Keltsev, V, Suwairi, Wm, Vijatov-Djuric, G, Vojinovic, J, Arkachaisri, T, Koskova, E, Avcin, T, Ally, M, Van Rensburg, Cj, Louw, I, Lopez, Ja, Boteanu, Al, Calvo Penades, I, De Inocencio, J, Mesa-Del-Castillo, P, Moreno, E, Remesal, A, Hofer, M, Gok, F, Ozen, S, Ramanan, A, Pallotti, C, Villa, L., Giancane, Gabriella, Swart, Joost F, Castagnola, Elio, Groll, Andreas H, Horneff, Gerd, Huppertz, Hans-Iko, Lovell, Daniel J, Wolfs, Tom, Herlin, Troel, Dolezalova, Pavla, Sanner, Helga, Susic, Gordana, Sztajnbok, Flavio, Maritsi, Despoina, Constantin, Tama, Vargova, Veronika, Sawhney, Sujata, Rygg, Marite, K Oliveira, Sheila, Cattalini, Marco, Bovis, Francesca, Bagnasco, Francesca, Pistorio, Angela, Martini, Alberto, Wulffraat, Nico, Ruperto, Nicolino, Cuttica, Ruben, Garay, Stella Mari, Brunner, Jurgen, Emminger, Wolfgang, Appenzeller, Simone, Len, Claudio, Saad Magalhaes, Claudia, Telcharova-Mihaylovska, Albena, Harjacek, Miroslav, Jelusic, Marija, Estmann, Anne, Nielsen, Susan, Herrera Mora, Cristina, Gervais, Elisabeth, Koné-Paut, Isabelle, Quartier, Pierre, Foeldvari, Ivan, Lutz, Thoma, Minden, Kirsten, Tzaribachev, Nikolay, Trachana, Maria, Tsitsami, Elena, Vougiouka, Olga, Orban, Ilonka, Harel, Liora, Hashkes, Philip, Uziel, Yosef, Cimaz, Rolando, Civino, Adele, Consolini, Rita, D'Angelo, Gianfranco, De Benedetti, Fabrizio, Filocamo, Giovanni, Fueri, Elena, Gallizzi, Romina, Maggio, Maria Cristina, Magnolia, Maria Greca, Miniaci, Angela, Montin, Davide, Olivieri, Alma Nunzia, Pastore, Serena, Rigante, Donato, Zulian, Francesco, Rumba-Rozenfelde, Ingrida, Stanevicha, Valda, Panaviene, Violeta, Rodriguez Lozano, Ana Luisa, Rubio-Perez, Nadina, Vega Cornejo, Gabriel, Hoppenreijs, Esther, Kamphuis, Sylvia, Flato, Berit, Nordal, Ellen Berit, Abdwani, Reem, Miraval, Tatiana, Paz Gastanaga, Maria Eliana, Smolewska, Elzbieta, Ailioaie, Constantin, Cochino, Alexis-Virgil, Laday, Matilda, Lazar, Calin, Alexeeva, Ekaterina, Chasnyk, Vyacheslav, Keltsev, Vladimir, Suwairi, Wafaa Mohammed Saad, Vijatov-Djuric, Gordana, Vojinovic, Jelena, Arkachaisri, Thaschawee, Koskova, Elena, Avcin, Tadej, Ally, Mahmood, Van Rensburg, Christa Janse, Louw, Ingrid, Lopez, Jordi Anton, Boteanu, Alina Lucica, Calvo Penades, Inmaculada, De Inocencio, Jaime, Mesa-Del-Castillo, Pablo, Moreno, Estefania, Remesal, Agustin, Hofer, Michael, Gok, Faysal, Ozen, Seza, Ramanan, Athimalaipet, Pallotti, Chiara, Villa, Luca, and Pediatrics
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Male ,lcsh:Diseases of the musculoskeletal system ,Biologic ,Paediatrics: 760 [VDP] ,Artritis infecciosa ,MedDRA ,Infants malalts ,Arthritis ,Severity of Illness Index ,Hospital patients ,Cohort Studies ,Pharmacovigilance ,0302 clinical medicine ,030212 general & internal medicine ,Registries ,Child ,Biologics ,Immunosuppressive therapy ,Infections ,Juvenile idiopathic arthritis ,Opportunistic ,biologics ,immunosuppressive therapy ,infections ,juvenile idiopathic arthritis ,opportunistic ,Barneleddgikt ,3. Good health ,Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA ,Antirheumatic Agents ,Child, Preschool ,Cohort ,Pediatric Infectious Disease ,Female ,Infection ,Research Article ,medicine.medical_specialty ,Tuberculosis ,juvenil idiopathic arthritis ,Opportunistic Infections ,Herpes Zoster ,03 medical and health sciences ,Immunocompromised Host ,Juvenile idiopathic arthriti ,Internal medicine ,medicine ,Humans ,book ,030203 arthritis & rheumatology ,Malalts hospitalitzats ,Immunosupressió ,business.industry ,Sick children ,medicine.disease ,Rheumatology ,Arthritis, Juvenile ,Infectious arthritis ,Pediatri: 760 [VDP] ,Orthopedic surgery ,Opportunistiske infeksjoner ,book.journal ,lcsh:RC925-935 ,business ,Infeccions oportunistes ,Immunosuppression - Abstract
Background: To derive a list of opportunistic infections (OI) through the analysis of the juvenile idiopathic arthritis (JIA) patients in the Pharmachild registry by an independent Safety Adjudication Committee (SAC). Methods: The SAC (3 pediatric rheumatologists and 2 pediatric infectious disease specialists) elaborated and approved by consensus a provisional list of OI for use in JIA. Through a 5 step-procedure, all the severe and serious infections, classified as per MedDRA dictionary and retrieved in the Pharmachild registry, were evaluated by the SAC by answering six questions and adjudicated with the agreement of 3/5 specialists. A final evidence-based list of OI resulted by matching the adjudicated infections with the provisional list of OI. Results: A total of 772 infectious events in 572 eligible patients, of which 335 serious/severe/very severe non-OI and 437 OI (any intensity/severity), according to the provisional list, were retrieved. Six hundred eighty-two of 772 (88.3%) were adjudicated as infections, of them 603/682 (88.4%) as common and 119/682 (17.4%) as OI by the SAC. Matching these 119 opportunistic events with the provisional list, 106 were confirmed by the SAC as OI, and among them infections by herpes viruses were the most frequent (68%), followed by tuberculosis (27.4%). The remaining events were divided in the groups of non-OI and possible/patient and/or pathogen-related OI. Conclusions: We found a significant number of OI in JIA patients on immunosuppressive therapy. The proposed list of OI, created by consensus and validated in the Pharmachild cohort, could facilitate comparison among future pharmacovigilance studies. © The Author(s). 2020 Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
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- 2020
3. Subcutaneous Abatacept in Patients With Polyarticular-Course Juvenile Idiopathic Arthritis
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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.
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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
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- 2018
4. Is there a difference in presentation of female and male patients with juvenile systemic scleroderma?
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Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Stanevicha, V, Sztajnbok, F, Sakamoto, AP, Alexeeva, E, Anton, J, Katsicas, M, Smith, V, Avcin, T, Cimaz, R, Kostik, M, Lehman, T, Sifuentes-Giraldo, WA, Appenzeller, S, Janarthanan, M, Moll, M, Nemcova, D, Jose Santos, M, Nassar, A, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Costa Reis, P, Eleftheriou, D, Harel, L, Horneff, G, Kallinich, T, Lazarevic, D, Minden, K, Nielsen, S, Nuruzzaman, F, Patwardhan, A, Uziel, Y, and Helmus, N
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ddc: 610 ,integumentary system ,610 Medical sciences ,Medicine - Abstract
Background: Juvenile systemic scleroderma (jSSc) is an orphan disease with a prevalence of 3 in 1 000 000 children. There are limited data published regarding the differences in clinical presentation of male and female patients with jSSc. The Juvenile Systemic Scleroderma Inception Cohort (JSSIC) is[for full text, please go to the a.m. URL], 47. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 33. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 29. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2019
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5. Gesundheitsverhalten bei Jugendlichen mit juveniler idiopathischer Arthritis im Krankheitsverlauf – Ergebnisse der Inzeptionskohorte (ICON)
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Milatz, F, Liedmann, I, Niewerth, M, Klotsche, J, Hospach, A, Horneff, G, Weller-Heinemann, F, Foeldvari, I, and Minden, K
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ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Das Jugendalter stellt sowohl hinsichtlich des bewegungsbezogenen Gesundheitsverhaltens als auch bezüglich der Vulnerabilität für gesundheitsschädliches Risikoverhalten eine kritische Lebensphase dar. In dem zur Vermittlung von gesundheitsbezogenen Einstellungen besonders[zum vollständigen Text gelangen Sie über die oben angegebene URL], 47. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 33. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 29. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2019
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6. Update from the juvenile scleroderma Inception Cohort
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Foeldvari, I, Klotsche, J, Kasapcopur, O, Adrovic, A, Torok, K, Stanevicha, V, Sztajnbok, F, Terreri, MT, Alexeeva, E, Anton, J, Katsicas, M, Smith, V, Avcin, T, Cimaz, R, Kostik, M, Lehman, T, Sifuentes-Giraldo, WA, Appenzeller, S, Janarthanan, M, Moll, M, Nemcova, D, Jose Santos, M, Schonenberg, D, Battagliotti, C, Berntson, L, Bica, B, Brunner, J, Costa Reis, P, Eleftheriou, D, Harel, L, Horneff, G, Kallinich, T, Lazarevic, D, Minden, K, Nielsen, S, Nuruzzaman, F, Patwardhan, A, Uziel, Y, and Helmus, N
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ddc: 610 ,integumentary system ,610 Medical sciences ,Medicine - Abstract
Background: Juvenile systemic scleroderma (jSSc) is an orphan disease with a prevalence of 3 in 1 000 000 children. There are limited data regarding the clinical presentation of jSSc. The Juvenile Systemic Scleroderma Inception Cohort (JSSIC) is a multinational registry that prospectively collects information[for full text, please go to the a.m. URL], 47. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 33. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 29. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2019
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7. Verbessertes Outcome mit Treat to Target Ansatz bei polyartikulärer juveniler idiopathischer Arthritis – Ergebnis einer prospektiven vergleichenden Studie
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Horneff, G, Peitz, J, Foeldvari, I, Trauzeddel, R, Hospach, A, Minden, K, Huppertz, HI, and Klein, A
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ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Ziel der Therapie der juvenile idiopathische Arthritis (JIA) ist die Minimierung der kurz- und langfristigen Krankheitslast, idealerweise erreicht durch eine frühzeitige und anhaltende Remission der Erkrankung. In einer prospektiven multizentrischen Studie an 6 kinderrheumatologischen[zum vollständigen Text gelangen Sie über die oben angegebene URL], 47. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 33. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 29. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2019
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8. Juvenile idiopathische Arthritis (JIA) und Vitamin D – Assoziation zu Krankheitsaktivität oder Uveitisrisiko?
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Zink, J, Sengler, C, Klotsche, J, Kessel, C, Foell, D, Niewerth, M, Liedmann, I, Ganser, G, Thon, A, Haas, JP, Hospach, A, Weller-Heinemann, F, Horneff, G, and Minden, K
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ddc: 610 ,610 Medical sciences ,Medicine ,skin and connective tissue diseases - Abstract
Einleitung: Vitamin D hat neben der Regulation des Calcium- und Phosphat-Stoffwechsels Bedeutung für das Immunsystem. Ein niedriger Vitamin-D-Spiegel ist sowohl mit der Inzidenz als auch mit der Ausprägung von Autoimmunerkrankungen, z.B. rheumatoide Arthritis, systemischer Lupus erythematodes,[zum vollständigen Text gelangen Sie über die oben angegebene URL], 46. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 32. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), Wissenschaftliche Herbsttagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2019
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9. Depressions-Screening in einem kinderrheumatologischen Zentrum mit dem BDI-fast Screen
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Klein, A, Pütz-Ata, S, Kölmel, T, and Horneff, G
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ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Depression ist eine Komorbidität bei Patienten mit juveniler idiopathischer Arthritis (JIA) und anderen chronisch-entzündlichen Erkrankungen. In der klinischen Routine wird die Depression wahrscheinlich zu selten erfasst. In einer orientierenden Studie erfolgte ein Screening auf[zum vollständigen Text gelangen Sie über die oben angegebene URL], 46. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 32. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), Wissenschaftliche Herbsttagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2019
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10. Early changes in gene expression and inflammatory proteins in systemic juvenile idiopathic arthritis patients on canakinumab therapy
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Brachat A. H., Grom A. A., Wulffraat N., Brunner H. I., Quartier P., Brik R., McCann L., Ozdogan H., Rutkowska-Sak L., Schneider R., Gerloni V., Harel L., Terreri M., Houghton K., Joos R., Kingsbury D., Lopez-Benitez J. M., Bek S., Schumacher M., Valentin M. -A., Gram H., Abrams K., Martini A., Lovell D. J., Nirmala N. R., Ruperto N., Cuttica R., Emminger W., Lauwerys B., Wouters C., Goffin L., Sztajnbok F., Radominski S., Oliveira S., Haddad E., Kone-Paut I., Desjonqueres M., Fischbach M., Thon A., Foell D., Weibarth-Riedel E., Horneff G., Trauzeddel R., Berner R., Kallinich T., Trachana M., Constantin T., Barash J., Berkun Y., Uziel Y., Corona F., Alessio M., Cimaz R., Viola S., Flato B., Ferrandiz M., Calvo I., Anton J., Robledillos J. C., Gamir M. L., Magnusson B., Hofer M., Unsal E., Erguven M., Ozen S., Wilkinson N., Chieng A., Ramanan A., Foster H., Nistala K., Higgins G., Marzan K., Schikler K., Morris P., Brachat, A. H., Grom, A. A., Wulffraat, N., Brunner, H. I., Quartier, P., Brik, R., Mccann, L., Ozdogan, H., Rutkowska-Sak, L., Schneider, R., Gerloni, V., Harel, L., Terreri, M., Houghton, K., Joos, R., Kingsbury, D., Lopez-Benitez, J. M., Bek, S., Schumacher, M., Valentin, M. -A., Gram, H., Abrams, K., Martini, A., Lovell, D. J., Nirmala, N. R., Ruperto, N., Cuttica, R., Emminger, W., Lauwerys, B., Wouters, C., Goffin, L., Sztajnbok, F., Radominski, S., Oliveira, S., Haddad, E., Kone-Paut, I., Desjonqueres, M., Fischbach, M., Thon, A., Foell, D., Weibarth-Riedel, E., Horneff, G., Trauzeddel, R., Berner, R., Kallinich, T., Trachana, M., Constantin, T., Barash, J., Berkun, Y., Uziel, Y., Corona, F., Alessio, M., Cimaz, R., Viola, S., Flato, B., Ferrandiz, M., Calvo, I., Anton, J., Robledillos, J. C., Gamir, M. L., Magnusson, B., Hofer, M., Unsal, E., Erguven, M., Ozen, S., Wilkinson, N., Chieng, A., Ramanan, A., Foster, H., Nistala, K., Higgins, G., Marzan, K., Schikler, K., and Morris, P.
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Male ,0301 basic medicine ,SJIA ,Juvenile ,Arthritis ,0302 clinical medicine ,Monoclonal ,Gene expression ,Child ,Oligonucleotide Array Sequence Analysis ,Immunoassay ,biology ,Interleukin-18 ,Antibodies, Monoclonal ,Interleukin-1β ,Child, Preschool ,Female ,Interleukin 18 ,Biomarkers ,Canakinumab ,Juvenile idiopathic arthritis ,Adolescent ,Arthritis, Juvenile ,Down-Regulation ,Gene Expression Profiling ,Humans ,Interleukin-6 ,Transcriptome ,Young Adult ,Research Article ,Human ,medicine.drug ,medicine.medical_specialty ,Antibodies, Monoclonal, Humanized ,Antibodies ,03 medical and health sciences ,Juvenile idiopathic arthriti ,Internal medicine ,medicine ,Journal Article ,Preschool ,Interleukin 6 ,030203 arthritis & rheumatology ,Oligonucleotide Array Sequence Analysi ,business.industry ,Microarray analysis techniques ,Interleukin-1 beta ,Biomarker ,medicine.disease ,Rheumatology ,Gene expression profiling ,030104 developmental biology ,Immunology ,biology.protein ,business - Abstract
Novartis Pharma Background: Canakinumab is a human anti-interleukin-1 beta (IL-1 beta) monoclonal antibody neutralizing IL-1 beta-mediated pathways. We sought to characterize the molecular response to canakinumab and evaluate potential markers of response using samples from two pivotal trials in systemic juvenile idiopathic arthritis (SJIA). Methods: Gene expression was measured in patients with febrile SJIA and in matched healthy controls by Affymetrix DNA microarrays. Transcriptional response was assessed by gene expression changes from baseline to day 3 using adapted JIA American College of Rheumatology (aACR) response criteria (50 aACR JIA). Changes in pro-inflammatory cytokines IL-6 and IL-18 were assessed up to day 197. Results: Microarray analysis identified 984 probe sets differentially expressed (>= 2-fold difference P < 0.05) in patients versus controls. Over 50% of patients with >= 50 aACR JIA were recognizable by baseline expression values. Analysis of gene expression profiles from patients achieving = 50 aACR JIA response at day 15 identified 102 probe sets differentially expressed upon treatment (>= 2-fold difference P < 0.05) on day 3 versus baseline, including IL-1 beta, IL-1 receptors (IL1-R1 and IL1-R2), IL-1 receptor accessory protein (IL1-RAP), and IL-6. The strongest clinical response was observed in patients with higher baseline expression of dysregulated genes and a strong transcriptional response on day 3. IL-6 declined by day 3 (>= 8-fold decline P < 0.0001) and remained suppressed. IL-18 declined on day 57 (>= 1.5-fold decline, P
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- 2017
11. Expert consensus on dynamics of laboratory tests for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis
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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
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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.
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- 2016
12. Fluorescence optical imaging in patients with juvenile rheumatic joint diseases – A comparative study with ultrasonography
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Beck, M, Klotsche, J, Glimm, AM, Ohrndorf, S, Werner, S, Horneff, G, Backhaus, M, Trauzeddel, R, Minden, K, and Girschick, H
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musculoskeletal diseases ,ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Background: Valid detection of inflammation in joints is essential in differential diagnosis of joint pain. Juvenile idiopathic arthritis (JIA) is the most common chronic inflammatory rheumatic disease in childhood. Imaging techniques assist in making the right diagnosis, evaluation of treatment response[for full text, please go to the a.m. URL], 45. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 31. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 27. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2017
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13. Häufigkeit von Begleiterkrankungen bei erwachsenen Patienten mit einer JIA
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Klotsche, J, Horneff, G, Betenstehl, N, Haas, JP, Ganser, G, Foeldvari, I, Seipelt, ECD, Tatsis, S, Weidemann, HF, and Minden, K
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ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Die juvenile idiopathische Arthritis (JIA) ist eine chronisch entzündliche Erkrankung der Gelenke, welche in ca. 50% der Patienten bis ins Erwachsenalter persistiert. JIA-Patienten zeigen langfristig Funktionseinschränkungen, eine schlechtere Lebensqualität, eine leicht[zum vollständigen Text gelangen Sie über die oben angegebene URL], 45. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 31. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 27. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2017
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14. Adenosine Deaminase 2 Defekt (infantile Polyarteriitis nodosa) bei einem Kind mit transitorisch ischämischen Attacken, Hirnblutung und Arthritiden
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Horneff, G and Peitz, J
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ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Die infantile Polyarteriitis nodosa ist eine systemische, nekrotisierende Vaskulitis deren Pathogenese kürzlich mit einer autosomal-rezessiv vererbten Mutation in CECR1, dem Gen, das für Adenosindeaminase 2 (ADA2) kodiert, assoziiert wurde. In den meisten Fällen tritt der [zum vollständigen Text gelangen Sie über die oben angegebene URL], 45. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 31. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 27. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2017
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15. Retrospektive Qualitätserhebung zur Transition in der Kinderrheumatologie
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Olbert, F, Wintrich, S, and Horneff, G
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ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Transition ist der geordnete Übergang aus der kinderfachärztlichen Betreuung in die Erwachsenenmedizin. Es herrscht oftmals der Eindruck, es findet kein geordneter Übergang statt und die Patientin/ der Patient ist unzureichend vorbereitet. Daneben bestehen Probleme in[zum vollständigen Text gelangen Sie über die oben angegebene URL], 45. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 31. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 27. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2017
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16. Adalimumab-Monotherapie versus Kombination mit Methotrexat bei juveniler idiopathischer Arthritis. Langzeitdaten aus dem deutschen BiKeR Register
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Klein, A, Becker, I, Minden, K, Haas, JP, Foeldvari, I, Trauzeddel, R, Hospach, A, and Horneff, G
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ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Seit seiner Zulassung für die Therapie der juvenilen idiopathischen Arthritis (JIA) ist Adalimumab (ADA) eine wertvolle Therapieoption, die den Krankheitsverlauf signifikant verbessern kann. Die Bedeutung der Kombinationstherapie mit Methotrexat ist unklar. Methoden: Die Effektivität[zum vollständigen Text gelangen Sie über die oben angegebene URL], 45. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh), 31. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh), 27. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2017
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17. Abatacept in children with juvenile idiopathic arthritis: a randomised, double-blind, placebo-controlled withdrawal trial
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Ruperto N, Lovell DJ, Quartier P, Paz E, Rubio Pérez N, Silva CA, Abud Mendoza C, Burgos Vargas R, Gerloni V, Melo Gomes JA, Saad Magalhães C, Sztajnbok F, Goldenstein Schainberg C, Scheinberg M, Penades IC, Fischbach M, Orozco J, Hashkes PJ, Hom C, Jung L, Lepore L, Oliveira S, Wallace CA, Sigal LH, Block AJ, Covucci A, Martini A, Giannini EH, Paediatric Rheumatology INternational Trials Organization, Pediatric Rheumatology Collaborative Study G.r.o.u.p. Collaborators Huemer C, Meunier BB, Deslandre CJ, Lemelle I, Mouy R, Prieur AM, Horneff G, Huppertz HI, Foeldvari I, Minden K, Ravelli A, Loy A, Cortis E, Falcini F, Nunez AF, Chavez J, Blanco FJ, Hofer M, Eberhard BA, Kivitz A, Punaro M, Olson N, Gardiner L., ALESSIO, MARIA, Ruperto, N, Lovell, Dj, Quartier, P, Paz, E, Rubio Pérez, N, Silva, Ca, Abud Mendoza, C, Burgos Vargas, R, Gerloni, V, Melo Gomes, Ja, Saad Magalhães, C, Sztajnbok, F, Goldenstein Schainberg, C, Scheinberg, M, Penades, Ic, Fischbach, M, Orozco, J, Hashkes, Pj, Hom, C, Jung, L, Lepore, L, Oliveira, S, Wallace, Ca, Sigal, Lh, Block, Aj, Covucci, A, Martini, A, Giannini, Eh, Paediatric Rheumatology INternational Trials, Organization, Collaborators Huemer C, Pediatric Rheumatology Collaborative Study G. r. o. u. p., Meunier, Bb, Deslandre, Cj, Lemelle, I, Mouy, R, Prieur, Am, Horneff, G, Huppertz, Hi, Foeldvari, I, Minden, K, Ravelli, A, Loy, A, Cortis, E, Falcini, F, Alessio, Maria, Nunez, Af, Chavez, J, Blanco, Fj, Hofer, M, Eberhard, Ba, Kivitz, A, Punaro, M, Olson, N, and Gardiner, L.
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Male ,medicine.medical_specialty ,Immunoconjugates ,Adolescent ,Arthritis ,Placebo ,Severity of Illness Index ,law.invention ,Abatacept ,Juvenile Arthritis Disease Activity Score ,Double-Blind Method ,Randomized controlled trial ,law ,Internal medicine ,medicine ,Clinical endpoint ,Humans ,Range of Motion, Articular ,Child ,Infusions, Intravenous ,Tumor Necrosis Factor-alpha ,business.industry ,General Medicine ,medicine.disease ,Arthritis, Juvenile ,Rheumatology ,Surgery ,Treatment Outcome ,Antirheumatic Agents ,Female ,business ,Juvenile rheumatoid arthritis ,medicine.drug - Abstract
Summary Background Some children with juvenile idiopathic arthritis either do not respond, or are intolerant to, treatment with disease-modifying antirheumatic drugs, including anti-tumour necrosis factor (TNF) drugs. We aimed to assess the safety and efficacy of abatacept, a selective T-cell costimulation modulator, in children with juvenile idiopathic arthritis who had failed previous treatments. Methods We did a double-blind, randomised controlled withdrawal trial between February, 2004, and June, 2006. We enrolled 190 patients aged 6–17 years, from 45 centres, who had a history of active juvenile idiopathic arthritis; at least five active joints; and an inadequate response to, or intolerance to, at least one disease-modifying antirheumatic drug. All 190 patients were given 10 mg/kg of abatacept intravenously in the open-label period of 4 months. Of the 170 patients who completed this lead-in course, 47 did not respond to the treatment according to predefined American College of Rheumatology (ACR) paediatric criteria and were excluded. Of the patients who did respond to abatacept, 60 were randomly assigned to receive 10 mg/kg of abatacept at 28-day intervals for 6 months, or until a flare of the arthritis, and 62 were randomly assigned to receive placebo at the same dose and timing. The primary endpoint was time to flare of arthritis. Flare was defined as worsening of 30% or more in at least three of six core variables, with at least 30% improvement in no more than one variable. We analysed all patients who were treated as per protocol. This trial is registered, number NCT00095173. Findings Flares of arthritis occurred in 33 of 62 (53%) patients who were given placebo and 12 of 60 (20%) abatacept patients during the double-blind treatment (p=0·0003). Median time to flare of arthritis was 6 months for patients given placebo (insufficient events to calculate IQR); insufficient events had occurred in the abatacept group for median time to flare to be assessed (p=0·0002). The risk of flare in patients who continued abatacept was less than a third of that for controls during that double-blind period (hazard ratio 0·31, 95% CI 0·16–0·95). During the double-blind period, the frequency of adverse events did not differ in the two treatment groups. Adverse events were recorded in 37 abatacept recipients (62%) and 34 (55%) placebo recipients (p=0·47); only two serious adverse events were reported, both in controls (p=0·50). Interpretation Selective modulation of T-cell costimulation with abatacept is a rational alternative treatment for children with juvenile idiopathic arthritis. Funding Bristol-Myers Squibb.
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- 2008
18. Evidence-based provisional clinical classification criteria for autoinflammatory periodic fevers
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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
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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.
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- 2015
19. Malignome bei juveniler idiopathischer Arthritis im BIKER (Biologika in der Kinderrheumatologie) Register – ein Update
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Horneff, G, Klein, A, Oommen, PT, Hospach, A, Foeldvari, I, Feddersen, I, and Minden, K
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JIA Biologika Malignome ,ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Die Therapie mit TNFα-Inhibitoren stellt eine wesentliche Verbesserung in der Behandlung der juvenilien idiopathischen Arthritis dar. Allerdings führten Fallberichte über Malignome, speziell Lymphome bei mit TNFα-Inhibitoren behandelten Patienten zu Befürchtungen,[zum vollständigen Text gelangen Sie über die oben angegebene URL], 44. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 30. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 26. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2016
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20. Erste Ergebnisse zum drei-Jahres-Outcome der Inzeptionskohorte juvenile idiopathische Arthritis (ICON)
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Listing, M, Niewerth, M, Liedmann, I, Klotsche, J, Sengler, C, Huppertz, HI, Föll, D, Horneff, G, Thon, A, Mönkemöller, K, and Minden, K
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Krankheitsaktivität ,ddc: 610 ,inaktive Erkrankung ,ICON ,Kohortenstudie ,610 Medical sciences ,Medicine ,JIA ,Lebensqualität - Abstract
Einleitung: Hauptziele therapeutischer Interventionen bei der juvenilen idiopathischen Arthritis (JIA) sind das Erreichen einer inaktiven Erkrankung und die Verbesserung der gesundheitsbezogenen Lebensqualität. Nach einem Jahr kinderrheumatologischer Versorgung wies bereits die Hälfte der [zum vollständigen Text gelangen Sie über die oben angegebene URL], 44. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 30. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 26. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2016
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21. Myositis-spezifische Antikörper bei juveniler Dermatomyositis
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Eising, K, Peitz, J, Unterwalder, N, Meisel, C, and Horneff, G
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ddc: 610 ,Autoantikörper ,juvenile Dermatomyositis ,610 Medical sciences ,Medicine - Abstract
Einleitung: Patienten mit einer juvenilen Dermatomyositis (jDM) können Myositis-assoziierte und Myositis-spezifische Autoantikörper aufweisen. Die Heterogenität der Erkrankung, Schwere der Muskel- und Hautbeteiligung, Herz- und Lungenbeteiligung, Kalzinose und Prognose sind mit dem Vorliegen[zum vollständigen Text gelangen Sie über die oben angegebene URL], 44. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 30. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 26. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2016
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22. Ist die langfristige Prognose der JIA abhängig vom Zeitpunkt des Startes einer Biologika Therapie?
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Klotsche, J, Niewerth, M, Foeldvari, I, Bärlin, E, Baumann, C, Striesow, FK, Aries, P, Aringer, M, Haas, JP, Horneff, G, and Minden, K
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ddc: 610 ,Biologika ,Juvenile idiopathische Arthritis ,610 Medical sciences ,Medicine ,Outcome - Abstract
Einleitung: Biologika spielen in der Behandlung der juvenilen idiopathischen Arthritis (JIA) eine immer größere Rolle. Bereits im ersten Jahr der Erkrankung erhält fast jeder dritte Polyarthritis-Patient bzw jeder fünfte JIA-Patient ein Biologikum. Bisher existieren nur wenige Erkenntnisse,[zum vollständigen Text gelangen Sie über die oben angegebene URL], 44. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 30. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 26. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2016
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23. Therapie der systemischen JIA mit Tocilizumab – Daten aus dem deutschen BIKER-Register
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Schulz, AC, Klein, A, Minden, K, Hospach, A, Weller-Heinemann, F, Ganser, G, and Horneff, G
- Subjects
ddc: 610 ,JIA Tocilizumab ,610 Medical sciences ,Medicine ,Etanercept - Abstract
Einleitung: Tocilizumab (TOC) steht seit 2008 mit der Erstzulassung zur Therapie der systemischen juvenilen idiopathischen Arthritis (sJIA) zur Verfügung. Effektivität und Sicherheit in der klinischen Praxis sollen anhand von Registerdaten vergleichendzu einer historischen Kontrolle mit einer[zum vollständigen Text gelangen Sie über die oben angegebene URL], 44. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 30. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 26. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2016
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- View/download PDF
24. Indirekter Vergleich der Ansprechraten von Adalimumab, Etanercept und Golimumab bei der polyartikulären JIA in Abhängigkeit zur Kombination mit Methotrexat – Daten aus publizierten RCTs
- Author
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Horneff, G
- Subjects
ddc: 610 ,Adalimumab ,610 Medical sciences ,Medicine ,JIA ,Golimumab ,Etanercept - Abstract
Einleitung: TNF Inhibitoren (TNFi) werden seit 15 Jahren bei der mittelschweren oder schweren polyartikulären JIA (pJIA) angewendet. Die Bedeutung einer Kombination mit Methotrexat ist nicht systematisch untersucht. Methoden: Vergleichende Analyse von Daten offener Einwaschphasen von Doppelblindstudien[zum vollständigen Text gelangen Sie über die oben angegebene URL], 44. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 30. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 26. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2016
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- View/download PDF
25. Kawasaki oder Morbus Still? Oder Kawasaki und Morbus Still? Oder Morbus Still beginnend als Kawasaki? Eine Fallvorstellung
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Peitz, J, Horneff, G, and Geikowski, T
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ddc: 610 ,Kawasaki Syndrom ,Il18 ,Morbus Still ,610 Medical sciences ,Medicine - Abstract
Einleitung: Die Diagnosen Kawasaki-Syndrom (KS) und sJIA /Morbus Still werden klinisch gestellt. Auch bei Kawasaki-Patienten können initial Arthritis oder Gelenkschmerzen vorliegen, derzeit schätzungsweise bei 7,5%, aber bei bis zu 31% in der Prä-IVIG-Ära. Klinische[zum vollständigen Text gelangen Sie über die oben angegebene URL], 44. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 30. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 26. Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2016
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26. Evidence-based, interdisciplinary guidelines for anti-inflammatory treatment of uveitis associated with juvenile idiopathic arthritis
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Heiligenhaus, Arnd, Michels, H, Schumacher, C, Kopp, I, Neudorf, Ulrich, Niehues, T, Baus, H, Becker, M, Bertram, B, Dannecker, G, Deuter, C, Foeldvari, I, Frosch, M, Ganser, G, Gaubitz, M, Gerdes, G, Horneff, G, Illhardt, A, Mackensen, F, Minden, K, Pleyer, U, Schneider, Manfred, Wagner, N, Zierhut, M, German Ophthalmological Society, Society for Childhood and Adolescent Rheumatology, and German Society for Rheumatology
- Subjects
medicine.medical_specialty ,Pediatrics ,Evidence-based practice ,Adolescent ,Delphi Technique ,Immunology ,Anti-Inflammatory Agents ,Medizin ,MEDLINE ,Alternative medicine ,Arthritis ,Uveitis ,Rheumatology ,Recurrence ,Germany ,Internal medicine ,medicine ,Humans ,Immunology and Allergy ,Cooperative Behavior ,Child ,Patient Care Team ,Evidence-Based Medicine ,business.industry ,Evidence-based medicine ,Guideline ,medicine.disease ,Arthritis, Juvenile ,Ophthalmology ,Treatment Outcome ,Physical therapy ,Interdisciplinary Communication ,business ,Algorithms - Abstract
Uveitis in juvenile idiopathic arthritis (JIA) is frequently associated with the development of complications and visual loss. Topical corticosteroids are the first-choice therapy, and immunosuppression is commonly used. However, treatment has not been standardized. Representatives from the German Ophthalmological Society, Society for Childhood and Adolescent Rheumatology, and the German Society for Rheumatology reached consensus on a standardized treatment strategy according to disease severity in the individual patient. The recommendations were based on a systematic literature analysis in MEDLINE and consensus expert meetings. Evidence and recommendations were graded, and an algorithm for anti-inflammatory treatment and final statements confirmed in a Delphi method. An interdisciplinary, evidence-based treatment guideline for JIA uveitis is presented.
- Published
- 2011
27. Schwere systemische juvenile idiopathische Arthritis und familiäres Mittelmeerfieber mit homozygoter M694V-Mutation im MEFV-Gen
- Author
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Wintrich, S, Peters, D, and Horneff, G
- Subjects
ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Die systemische juvenile idiopathische Arthritis (sJIA) und das familiäre Mittelmeerfieber (FMF) zeigen mit Fieber, Arthritis, Exanthem, generalisierter Lymphadenopathie und Serositis viele Gemeinsamkeiten. Therapieoptionen bei der sJIA sind neben Glucokortikoiden, nichtsteroidalen [zum vollständigen Text gelangen Sie über die oben angegebene URL], 43. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 29. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 25. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2015
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28. Etanercept bei Patienten mit Enthesitis bedingten Arthritis juvenile idiopathische Arthritis: Ergebnisse der Phase-3 Randomisierte Doppelblind REMINDER-Studie
- Author
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Horneff, G, Foeldvari, I, Minden, K, Trauzeddel, R, Kümmerle-Deschner, J, Tenbrock, K, Ganser, G, and Huppertz, HI
- Subjects
ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Die Enthesitis-assoziierte Arthritis (ERA) ist eine Kategorie der juvenilen idiopathischen Arthritis (JIA) charakterisiert durch Enthesitis und Arthritis peripherer Gelenke mit Ähnlichkeiten zur undifferenzierten Spondylarthropathie bei Erwachsenen. Das Ziel dieser Studie war es Wirksamkeit[zum vollständigen Text gelangen Sie über die oben angegebene URL], 43. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 29. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 25. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2015
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29. Kawasaki Syndrom in Deutschland – Neue Therapiestrategie?
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Hospach, T, Neudorf, U, Patel, A, Nossal, R, Enninger, A, Bielack, S, Uhlemann, F, Huppertz, HI, Föll, D, and Horneff, G
- Subjects
ddc: 610 ,610 Medical sciences ,Medicine - Abstract
Einleitung: Bis zu 20% der Patienten mit einem Kawasaki Syndrom (KS) entwickeln ohne adäquate Therapie Koronararterienaneursymata (KAA). Mit der Gabe von Immunglobulinen (IVIG) kann diese Rate auf 4% reduziert werden (1). Beobachtungen an eigenen Patienten zeigen, dass 3 von 59 (5%)[for full text, please go to the a.m. URL], Süddeutscher Kongress für Kinder- und Jugendmedizin; 63. Jahrestagung der Süddeutschen Gesellschaft für Kinder- und Jugendmedizin gemeinsam mit der Süddeutschen Gesellschaft für Kinderchirurgie und dem Berufsverband der Kinder- und Jugendärzte e.V. – Landesverband Baden-Württemberg
- Published
- 2014
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30. IL-6 Inhibition – Daten aus dem deutschen AID
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Bielak, M, Weyandt, N, Haas, JP, Horneff, G, Lutz, T, Lilienthal, E, Kallinich, T, Tenbrock, K, Berendes, R, Dückers, G, Wittkowski, H, Weißbarth-Riedel, E, Winkel, C, Oommen, PT, Neudorf, U, Niehues, T, Föll, D, and Lainka, E
- Subjects
SJIA ,ddc: 610 ,S100 Proteine ,IL-6 Inhibition ,AID ,610 Medical sciences ,Medicine - Abstract
Einleitung: AID (autoinflammatory diseases) sind charakterisiert durch eine unkontrollierte Antwort des angeborenen Immunsystems und eine rekurrierende selbstlimitierende systemische Inflammation. Die SJIA (systemic juvenile idiopathic arthritis) ist eine AID unklarer Ätiologie. Eine wesentliche[for full text, please go to the a.m. URL], 42. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 28. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 24. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2014
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31. Analyse autoinflammatorischer Erkrankungen (AID) unter Behandlung eines Interleukin-1-Inhibitors (Daten aus dem AID-Register)
- Author
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Baehr, M, Haas, JP, Holzinger, D, Horneff, G, Kallinich, T, Weißbarth-Riedel, E, Rietschel, C, Berendes, R, Lankisch, P, Weyandt, N, Küster, RM, Lilienthal, E, Lutz, T, Kümmerle-Deschner, J, Neudorf, U, Niehues, T, and Lainka, E
- Subjects
SJIA ,Anakinra ,ddc: 610 ,Canakinumab ,AID ,CAPS ,610 Medical sciences ,Medicine - Abstract
Einleitung: Zu den autoinflammatorischen Erkrankungen werden u.a. hereditäre rekurrierende Fiebersyndrome (HRF) und bislang noch nicht genetisch determinierte Fiebersyndrome (z.B. SJIA) gezählt. Ihnen gemeinsam ist eine unkontrollierte Aktivierung des unspezifischen Immunsystems, bei der proinflammatorische[for full text, please go to the a.m. URL], 42. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 28. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 24. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2014
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32. Schwere Infektionen sind bei der juvenilen idiopathischen Arthritis (JIA)-Patienten von der Krankheitsaktivität abhängig
- Author
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Horneff, G, Becker, I, Minden, K, Tenbrock, K, Huppertz, HI, and Haas, JP
- Subjects
ddc: 610 ,Infektionen ,Adalimumab ,610 Medical sciences ,Medicine ,Methotrexat ,JIA ,Etanercept - Abstract
Einleitung: Das Risiko für schwere Infektionen ist bereits für JIA-Patienten ohne Immunsuppressiva und Biologika als erhöht bekannt. Untersucht werden sollen jetzt Einflussfaktoren und das zusätzliche Risiko für schwere Infektionen durch TNF-Inhibitoren. Methoden: In der [for full text, please go to the a.m. URL], 42. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 28. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 24. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
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- 2014
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33. Rezidivrate nach Therapieende in Remission – Daten aus dem BIKER Register
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Peitz, J and Horneff, G
- Subjects
ddc: 610 ,Remission ,Jadas ,610 Medical sciences ,Medicine ,JIA ,Flare - Abstract
Einleitung: Remisson ist das formulierte Therapieziel bei der Therapie der JIA. Dies kann unter Einsatz von Methotrexat (MTX) und Biologika für eine große Zahl von Patienten erreicht werden. Bislang stehen wenige Arbeiten zum Verlauf nach Therapieende zur Verfügung. Methoden: Untersucht[for full text, please go to the a.m. URL], 42. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 28. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 24. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2014
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34. Methotrexat und Biologika beeinflussen das Risiko für Uveitis-Schübe: Daten aus dem BIKER-Register
- Author
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Horneff, G, Foeldvari, I, and Becker, I
- Subjects
Uveitis ,ddc: 610 ,Juvenile idiopathische Arthritis ,Adalimumab ,610 Medical sciences ,Medicine ,Methotrexat ,Etanercept - Abstract
Einleitung: Die Uveitis ist eine der wichtigsten extraartikulären Manifestationen der JIA. In offenen Studien erwiesen sich Methotrexat (MTX), Adalimumab (ADA) und Infliximab als wirksam, nicht aber Etanercept (ETA). Untersucht werden soll die Uveitisschubfrequenz unter verscheidnenen Therapien.[for full text, please go to the a.m. URL], 42. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 28. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 24. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2014
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35. Prädiktoren für das Ansprechen auf Methotrexat bei juveniler idiopathischer Arthritis
- Author
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Albarouni, M, Becker, I, and Horneff, G
- Subjects
ddc: 610 ,Prädiktoren ,610 Medical sciences ,Medicine ,Methotrexat ,juvenile idiopathische Arthritis - Abstract
Einleitung: Suche von Prädiktoren für ein Ansprechen auf die Behandlung mit Methotrexat bei juveniler idiopathischer Arthritis-Patienten. Methoden: Mit demographischen, klinischen, Gelenk- und labormedizinischen Variablen von neu mit Methotrexat behandelten Patienten erfolgten bivariate[for full text, please go to the a.m. URL], 42. Kongress der Deutschen Gesellschaft für Rheumatologie (DGRh); 28. Jahrestagung der Deutschen Gesellschaft für Orthopädische Rheumatologie (DGORh); 24. wissenschaftliche Jahrestagung der Gesellschaft für Kinder- und Jugendrheumatologie (GKJR)
- Published
- 2014
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- View/download PDF
36. Rückbildung der Schwerhörigkeit bei einer Patientin mit Muckle-Wells-Syndrom unter Therapie mit Anakinra
- Author
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Klein Ak and Horneff G
- Subjects
Pediatrics ,medicine.medical_specialty ,Anakinra ,Hearing loss ,business.industry ,Amyloidosis ,Cryopyrin-associated periodic syndrome ,medicine.disease ,Surgery ,Muckle–Wells syndrome ,Pediatrics, Perinatology and Child Health ,medicine ,Serum amyloid A ,Osteitis ,medicine.symptom ,business ,Uveitis ,medicine.drug - Abstract
Muckle Wells syndrome is an autoinflammatory disease in the group of cryopyrin associated periodic syndromes (CAPS). We report the case of an 8 year old girl with MWS who presented with remitting fever, urticaria, remitting coxitis, osteitis, bilateral uveitis anterior, elevated levels of C-reactive protein (CRP) and Serum amyloid A (SAA) and progressive sensoneurinal hearing loss. After starting treatment with anakinra, clinical symptoms dissolved almost completely for about two years now. CRP and SAA levels normalized quickly and sustained and as a consequence the risk of amyloidosis may be minimized. Notable is the complete recovery from sensoneurinal hearing loss merely two months after start of treatment. This brings up questions about pathophysiology of sensoneurinal hearing loss in MWS and emphasizes the benefits of an early diagnosis, as an early start of treatment possibly reduces long-term damage.
- Published
- 2010
37. Treatment of autoinflammatory diseases: results from the Eurofever Registry and a literature review
- Author
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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
38. Initial presenting manifestations in 16,486 patients with inborn errors of immunity include infections and noninfectious manifestations
- Author
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Tim Niehues, Catherine Waruiru, Conleth Feighery, Uwe Schauer, Virginie Courteille, Kai Lehmberg, Ingo Müller, I. Esteves, Henner Morbach, Michael Borte, Patrick Hundsdoerfer, Klaus Schwarz, Ewelina Gowin, Alessandro Aiuti, Andreas Holbro, Federica Barzaghi, João Farela Neves, Dagmar Graf, Hannah Tamary, Veneta Milenova, Benedikt Boetticher, Eleonora Gambineri, Vera Goda, Alia Eldash, Jan-Christian Wasmuth, Fabio Candotti, Svetlana O. Sharapova, Markus Metzler, Juergen Brunner, Anna Hilfanova, Brindusa Ruxandra Capilna, Pere Soler-Palacín, Arnau Antolí, Horst von Bernuth, Vassilios Lougaris, Maria Carrabba, Bernd H. Belohradsky, Julian Thalhammer, Nathalie de Vergnes, Peter Olbrich, Peter Kopač, Leif G. Hanitsch, Alexandra Nieters, Filomeen Haerynck, Juliana Gabzdilova, Sezin Aydemir, Rabab El Hawary, Patrick F.K. Yong, Maria Giovanna Danieli, Alberto Tommasini, Sandra Steinmann, Ulrich Baumann, Figen Dogu, Elisabeth Förster-Waldl, Carolina Marasco, Donato Amodio, Lorenzo Lodi, Xavier Solanich, Caterina Cancrini, Brigita Sitkauskiene, Torsten Witte, Clementina Vanessa, Nima Rezaei, Jean-Christophe Goffard, Kirsten Wittke, Emmanouil Liatsis, Helen Baxendale, Susana L. Silva, Bodo Grimbacher, Henrike Ritterbusch, Evangelia Farmaki, Safa Meshaal, Sujal Ghosh, Larysa Kostyuchenko, David Edgar, Simone Cesaro, R Zeuner, Nerea Salmón Rodríguez, Isabella Quinti, Stephan Ehl, Pauline Brosselin, Joerg C. Henes, Pilar Llobet Agulló, Rosa Maria Dellepiane, Andrea Meinhardt, Marina Kojić, Georgios Sogkas, Stephan Borte, Catharina Schuetz, Suheyla Ocak, Karin Marschall, Lukas M. Gasteiger, Stefan Raffac, Sofia Tantou, Sadia Noorani, Matthaios Speletas, Philippe Randrianomenjanahary, Ursula Holzer, Ayca Kiykim, Johannes G. Liese, Angelo Vacca, Gisela Fecker, Ekrem Unal, Koen J. van Aerde, Alba Parra-Martínez, Kaan Boztug, Sophie Stiehler, Sybille Landwehr-Kenzel, Claudio Pignata, Jennifer Neubert, Janine Reichenbach, Shahnaz Parvin, Sarah Goddard, Andrea Schroll, Dirk Holzinger, Asghar Aghamohammadi, Hassan Abolhassani, Johannes Trück, Estela Paz-Artal, Shereen M. Reda, Anna Shcherbina, Maria Raptaki, Jaroslava Orosova, Beata Wolska-Kuśnierz, Tessa Kerre, Gerrit Ahrenstorf, Ben Zion Garty, Dirk Foell, Benjamin Becker, Ulrike F. Demel, Androniki Kapousouzi, Abraham Rutgers, Klaus Warnatz, Gemma Rocamora Blanch, Stephan Rusch, Luis M. Allende, Dalia Abd Elaziz, Safa Baris, Jorisvan Montfrans, Dominik T. Schneider, Raphael Scheible, Juana Gil-Herrera, Gerhard Kindle, Annarosa Soresina, Giovanna Fabio, Uwe Wintergerst, Emilia Faria, Maria Fasshauer, Silvia Ricci, Aisha Elmarsafy, Barbara Pietrucha, Carsten Speckmann, Nizar Mahlaoui, Ulrich Heininger, Isabelle Meyts, Matthew Buckland, Efimia Papadopoulou-Alataki, Robin Kobbe, A Herwadkar, Sebastian F. N. Bode, Ali Sobh, László Maródi, Baldassarre Martire, Chiara Azzari, Maximilian Heeg, Katja Masjosthusmann, Michael H. Albert, Matteo Chinello, Juan Luis Santos-Pérez, Aarnoud Huissoon, Tanya I. Coulter, Hendrik Schulze-Koops, Norbert Graf, Radwa Alkady, Jolanta Bernatoniene, Seraina Prader, Alenka Gagro, Joachim Roesler, Taco W. Kuijpers, Ewa Więsik-Szewczyk, Maria Elena Maccari, Conrad Ferdinand Lippert, Miriam González-Amores, Johannes Dirks, Daniel E Pleguezuelo, Christof M. Kramm, Anders Fasth, Volker Schuster, Olov Ekwall, Nikolaus Rieber, Javier Carbone, Petra Kaiser-Labusch, Diana Ernst, Lucia Augusta Baselli, Luis Ignacio Gonzalez-Granado, Maria Kanariou, Stefanie S. V. Henriet, Sigune Goldacker, Kerstin Felgentreff, Oana Joean, Fine Roosens, Fabian Hauck, Eva C. Schwaneck, Milos Jesenak, Manfred Hoenig, Lenka Kapustova, Christoph Boesecke, Alain Fischer, Sara Pereira da Silva, Julia Körholz, Ansgar Schulz, Carolynne Schwarze-Zander, Mikko Seppänen, Nermeen Galal, Nora Naumann-Bartsch, Tomaz Garcez, Peter Ciznar, Klara M. Posfay-Barbe, Zelimir Pavle Eric, Reinhold E. Schmidt, Hermann J. Girschick, Sabine Heine, Anika-Kerstin Biegner, Annick A. J. M. van de Ven, Stefan Schreiber, J. Merlijn van den Berg, Nurit Assia Batzir, Alexandra Jablonka, Kim Stol, Gregor Dückers, Antonios G.A. Kolios, Ioannis Kakkas, Christian Klemann, Marina N. Guseva, Sofia Grigoriadou, Elif Karakoc-Aydiner, Antonio Marzollo, Peter D. Arkwright, Urs C. Steiner, Sara Sebnem Kilic, Romina Dieli-Crimi, Gergely Kriván, Monika Sparber-Sauer, Marco Cazzaniga, Fulvio Porta, Paraskevi Maggina, Tomas Milota, Robbert G. M. Bredius, Martine Pergent, Klaus Tenbrock, Jana Pachlopnik Schmid, Florentia Dimitriou, Cathal Laurence Steele, Helen Bourne, Anna Bobcakova, Gerd Horneff, Judith Potjewijd, Marc Schmalzing, Tobias Ankermann, Paul Ryan, Oksana Boyarchuk, Necil Kutukculer, Carl Friedrich Classen, Zita Chovancová, Moira Thomas, Cinzia Milito, Michaela Bitzenhofer-Grüber, Faranaz Atschekzei, Eva Hlaváčková, Viviana Moschese, Julie Smet, Hans-Hartmut Peter, Carla Teixeira, Sabine M El-Helou, Suzanne de Kruijf Bazen, Helmut Wittkowski, Donate Jakoby, Marina Garcia-Prat, Esther de Vries, Richard Herriot, Sven Kracker, Alessandro Plebani, Lisa Göschl, Laura Hora Marques, Anna Sediva, Jiri Litzman, Mark M. Gompels, Renate Krüger, Şefika İlknur Kökçü Karadağ, Nadine Binder, Anna Szaflarska, Peter Jandus, Lisa Ibberson, Johann Greil, Ulf Schulze-Sturm, Mehtap Sirin, Aydan Ikinciogullari, Edyta Heropolitańska-Pliszka, Michael E. Weiss, Alla Skapenko, Lukas Wisgrill, Hana Alachkar, Uta Behrends, Silvia Sánchez-Ramón, Maria N. Hatzistilianou, Otilia Petrovicova, Darko Richter, Zoreh Nademi, Jürgen K. Rockstroh, Sohilla Lotfy, Markus G. Seidel, Timothy Ronan Leahy, Audra Blažienė, Translational Immunology Groningen (TRIGR), Paediatric Infectious Diseases / Rheumatology / Immunology, AII - Inflammatory diseases, ARD - Amsterdam Reproduction and Development, University of Zurich, Ehl, Stephan, Thalhammer, J., Kindle, G., Nieters, A., Rusch, S., Seppanen, M. R. J., Fischer, A., Grimbacher, B., Edgar, D., Buckland, M., Mahlaoui, N., Ehl, S., Boztug, K., Brunner, J., Demel, U. F., Forster-Waldl, E., Gasteiger, L. M., Goschl, L., Kojic, M., Schroll, A., Seidel, M. G., Wintergerst, U., Wisgrill, L., Sharapova, S. O., Goffard, J. -C., Kerre, T., Meyts, I., Roosens, F., Smet, J., Haerynck, F., Eric, Z. P., Milenova, V., Gagro, A., Richter, D., Chovancova, Z., Hlavackova, E., Litzman, J., Milota, T., Sediva, A., Elaziz, D. A., Alkady, R. S., El Sayed El Hawary, R., Eldash, A. S., Galal, N., Lotfy, S., Meshaal, S. S., Reda, S. M., Sobh, A., Elmarsafy, A., Brosselin, P., Courteille, V., De Vergnes, N., Kracker, S., Pergent, M., Randrianomenjanahary, P., Ahrenstorf, G., Albert, M. H., Ankermann, T., Atschekzei, F., Baumann, U., Becker, B. C., Behrends, U., Belohradsky, B. H., Biegner, A. -K., Binder, N., Bode, S. F. N., Boesecke, C., Boetticher, B., Borte, M., Borte, S., Classen, C. F., Dirks, J., Duckers, G., El-Helou, S., Ernst, D., Fasshauer, M., Fecker, G., Felgentreff, K., Foell, D., Ghosh, S., Girschick, H. J., Goldacker, S., Graf, N., Graf, D., Greil, J., Hanitsch, L. G., Hauck, F., Heeg, M., Heine, S. I., Henes, J. C., Hoenig, M., Holzer, U., Holzinger, D., Horneff, G., Hundsdoerfer, P., Jablonka, A., Jakoby, D., Joean, O., Kaiser-Labusch, P., Klemann, C., Kobbe, R., Korholz, J., Kramm, C. M., Kruger, R., Landwehr-Kenzel, S., Lehmberg, K., Liese, J. G., Lippert, C. F., Maccari, M. E., Masjosthusmann, K., Meinhardt, A., Metzler, M., Morbach, H., Muller, I., Naumann-Bartsch, N., Neubert, J., Niehues, T., Peter, H. -H., Rieber, N., Ritterbusch, H., Rockstroh, J. K., Roesler, J., Schauer, U., Scheible, R., Schmalzing, M., Schmidt, R. E., Schneider, D. T., Schreiber, S., Schuetz, C., Schulz, A., Schulze-Koops, H., Schulze-Sturm, U., Schuster, V., Schwaneck, E. C., Schwarz, K., Schwarze-Zander, C., Sirin, M., Skapenko, A., Sogkas, G., Sparber-Sauer, M., Speckmann, C., Steinmann, S., Stiehler, S., Tenbrock, K., von Bernuth, H., Warnatz, K., Wasmuth, J. -C., Weiss, M., Witte, T., Wittke, K., Wittkowski, H., Zeuner, R. A., Farmaki, E., Hatzistilianou, M. N., Kakkas, I., Kanariou, M. G., Kapousouzi, A., Liatsis, E., Maggina, P., Papadopoulou-Alataki, E., Raptaki, M., Speletas, M., Tantou, S., Goda, V., Krivan, G., Marodi, L., Abolhassani, H., Aghamohammadi, A., Rezaei, N., Feighery, C., Leahy, T. R., Ryan, P., Batzir, N. A., Garty, B. Z., Tamary, H., Aiuti, A., Amodio, D., Azzari, C., Barzaghi, F., Baselli, L. A., Cancrini, C., Carrabba, M., Cazzaniga, M., Cesaro, S., Chinello, M., Danieli, M. G., Dellepiane, R. M., Fabio, G., Gambineri, E., Lodi, L., Lougaris, V., Marasco, C., Martire, B., Marzollo, A., Milito, C., Moschese, V., Pignata, C., Plebani, A., Porta, F., Quinti, I., Ricci, S., Soresina, A., Tommasini, A., Vacca, A., Vanessa, C., Blaziene, A., Sitkauskiene, B., Gowin, E., Heropolitanska-Pliszka, E., Pietrucha, B., Szaflarska, A., Wiesik-Szewczyk, E., Wolska-Kusnierz, B., Esteves, I., Faria, E., Marques, L. H., Neves, J. F., Silva, S. L., Teixeira, C., Pereira da Silva, S., Capilna, B. R., Guseva, M. N., Shcherbina, A., Bobcakova, A., Ciznar, P., Gabzdilova, J., Jesenak, M., Kapustova, L., Orosova, J., Petrovicova, O., Raffac, S., Kopac, P., Allende, L. M., Antoli, A., Blanch, G. R., Carbone, J., Dieli-Crimi, R., Garcia-Prat, M., Gil-Herrera, J., Gonzalez-Granado, L. I., Agullo, P. L., Olbrich, P., Parra-Martinez, A., Paz-Artal, E., Pleguezuelo, D. E., Rodriguez, N. S., Sanchez-Ramon, S., Santos-Perez, J. L., Solanich, X., Soler-Palacin, P., Gonzalez-Amores, M., Ekwall, O., Fasth, A., Bitzenhofer-Gruber, M., Candotti, F., Dimitriou, F., Heininger, U., Holbro, A., Jandus, P., Kolios, A. G. A., Marschall, K., Schmid, J. P., Posfay-Barbe, K. M., Prader, S., Reichenbach, J., Steiner, U. C., Truck, J., Bredius, R. G., de Kruijf- Bazen, S., de Vries, E., Henriet, S. S. V., Kuijpers, T. W., Potjewijd, J., Rutgers, A., Stol, K., van Aerde, K. J., Van den Berg, J. M., van de Ven, A. A. J. M., Montfrans, J., Aydemir, S., Baris, S., Dogu, F., Ikinciogullari, A., Karakoc-Aydiner, E., Kilic, S. S., Kiykim, A., Kokcu Karadag, S. I., Kutukculer, N., Ocak, S., Unal, E., Boyarchuk, O., Hilfanova, A., Kostyuchenko, L. V., Alachkar, H., Arkwright, P. D., Baxendale, H. E., Bernatoniene, J., Coulter, T. I., Garcez, T., Goddard, S., Gompels, M. M., Grigoriadou, S., Herriot, R., Herwadkar, A., Huissoon, A., Ibberson, L., Nademi, Z., Noorani, S., Parvin, S., Steele, C. L., Thomas, M., Waruiru, C., Yong, P. F. K., and Bourne, H.
- Subjects
0301 basic medicine ,Male ,Pediatrics ,syndromic ,Sex Factor ,Disease ,registry ,medicine.disease_cause ,Cohort Studies ,0302 clinical medicine ,Primary Immunodeficiency Disease ,inborn error of immunity ,Immunology and Allergy ,warning signs ,Age Factor ,Registries ,Family history ,presenting symptom ,Child ,Primary immunodeficiency ,Granuloma ,autoimmune ,immune dysregulation ,inflammatory ,Adult ,Autoimmune Diseases ,Female ,Humans ,Infections ,Lymphoproliferative Disorders ,Middle Aged ,Primary Immunodeficiency Diseases ,Sex Factors ,Age Factors ,10177 Dermatology Clinic ,Infections/epidemiology ,3. Good health ,Settore MED/02 ,Warning signs ,Lymphoproliferative Disorder ,2723 Immunology and Allergy ,Infection ,Human ,medicine.medical_specialty ,Immunology ,610 Medicine & health ,Malignancy ,primary immunodeficiency ,Autoimmune Disease ,03 medical and health sciences ,Immunity ,Autoimmune Diseases/epidemiology ,medicine ,2403 Immunology ,business.industry ,warning sign ,Common variable immunodeficiency ,Granuloma/epidemiology ,Immune dysregulation ,medicine.disease ,Primary Immunodeficiency Diseases/epidemiology ,030104 developmental biology ,Lymphoproliferative Disorders/epidemiology ,Cohort Studie ,business ,030215 immunology - Abstract
BACKGROUND: Inborn errors of immunity (IEI) are rare diseases, which makes diagnosis a challenge. A better description of the initial presenting manifestations should improve awareness and avoid diagnostic delay. Although increased infection susceptibility is a well-known initial IEI manifestation, less is known about the frequency of other presenting manifestations.OBJECTIVE: We sought to analyze age-related initial presenting manifestations of IEI including different IEI disease cohorts.METHODS: We analyzed data on 16,486 patients of the European Society for Immunodeficiencies Registry. Patients with autoinflammatory diseases were excluded because of the limited number registered.RESULTS: Overall, 68% of patients initially presented with infections only, 9% with immune dysregulation only, and 9% with a combination of both. Syndromic features were the presenting feature in 12%, 4% had laboratory abnormalities only, 1.5% were diagnosed because of family history only, and 0.8% presented with malignancy. Two-third of patients with IEI presented before the age of 6 years, but a quarter of patients developed initial symptoms only as adults. Immune dysregulation was most frequently recognized as an initial IEI manifestation between age 6 and 25 years, with male predominance until age 10 years, shifting to female predominance after age 40 years. Infections were most prevalent as a first manifestation in patients presenting after age 30 years.CONCLUSIONS: An exclusive focus on infection-centered warning signs would have missed around 25% of patients with IEI who initially present with other manifestations.
- Published
- 2021
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
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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
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