Browsing by Author "Nielsen, Susan"

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    Application and performance of disease activity indices proposed for patients with systemic sclerosis in an international cohort of patients with juvenile systemic sclerosis
    (2023-04-10) Klotsche, Jens; Torok, Kathryn S.; Kasapcopur, Ozgur; Adrovic, Amra; Terreri, Maria Teresa; Sakamoto, Ana Paula; Katsicas, Maria; Sztajnbok, Flavio; Marrani, Edoardo; Sifuentes-Giraldo, Alberto; Stanevicha, Valda; Anton, Jordi; Feldmann, Brian; Kostik, Mikhail; Nemcova, Dana; Santos, Maria Jose; Appenzeller, Simone; Avcin, Tadej; Battagliotti, Cristina; Berntson, Lillemor; Bica, Blanca; Brunner, Jürgen; Eleftheriou, Despina; Harel, Liora; Horneff, Gerd; Kallinich, Tilmann; Minden, Kirsten; Nielsen, Susan; Patwardhan, Anjali; Helmus, Nicola; Foeldvari, Ivan; Department of Paediatrics
    Objectives: Juvenile systemic sclerosis is a rare childhood disease. Three disease activity indices have been published for adult patients with systemic sclerosis: the European Scleroderma Study Group Index, a modified version of the European Scleroderma Study Group Index and the revised European Scleroderma Trials and Research index. The objective of this study was to determine the feasibility and performance of the three disease activity indices in a prospectively followed cohort of patients with juvenile systemic sclerosis. Methods: The analysis cohort was selected from the prospective international inception cohort enrolling juvenile systemic sclerosis patients. The correlation of the disease activity indices with the physicians’ and the patients’ global assessment of disease activity was determined. The disease activity indices were compared between patients with active and inactive disease. Sensitivity to change between 6- and 12-month follow-up was investigated by mixed models. Results: Eighty percent of the 70 patients had a diffuse cutaneous subtype. The revised European Scleroderma Trials and Research index was highly correlated with the physician-reported global disease activity/parents-reported global disease activity (r = 0.74/0.64), followed by the European Scleroderma Study Group activity index (r = 0.61/0.55) and the modified version of the European Scleroderma Study Group activity index (r = 0.51/0.43). The disease activity indices significantly differed between active and inactive patients. The disease activity indices showed sensitivity to change between 6- and 12-month follow-up among patients who improved or worsened according to the physician-reported global disease activity and the parents-reported global disease activity. Conclusion: Overall, no disease activity score is superior to the other, and all three scores have limitations in the application in juvenile systemic sclerosis patients. Furthermore, research on the concept of disease activity and suitable scores to measure disease activity in patients with juvenile systemic sclerosis is necessary in future.
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    Clinical characteristics and genetic analyses of 187 patients with undefined autoinflammatory diseases
    (2019) Ter Haar, Nienke M.; Eijkelboom, Charlotte; Cantarini, Luca; Papa, Riccardo; Brogan, Paul A.; Kone-Paut, Isabelle; Modesto, Consuelo; Hofer, Michael; Iagaru, Nicolae; Fingerhutová, Sárka; Insalaco, Antonella; Licciardi, Francesco; Uziel, Yosef; Jelusic, Marija; Nikishina, Irina; Nielsen, Susan; Papadopoulou-Alataki, Efimia; Olivieri, Alma Nunzia; Cimaz, Rolando; Susic, Gordana; Stanevica, Valda; Van Gijn, Marielle; Vitale, Antonio; Ruperto, Nicolino; Frenkel, Joost; Gattorno, Marco; Rīga Stradiņš University
    Objectives To describe the clinical characteristics, treatment response and genetic findings in a large cohort of patients with undefined systemic autoinflammatory diseases (SAIDs). Methods Clinical and genetic data from patients with undefined SAIDs were extracted from the Eurofever registry, an international web-based registry that retrospectively collects clinical information on patients with autoinflammatory diseases. Results This study included 187 patients. Seven patients had a chronic disease course, 180 patients had a recurrent disease course. The median age at disease onset was 4.3 years. Patients had a median of 12 episodes per year, with a median duration of 4 days. Most commonly reported symptoms were arthralgia (n=113), myalgia (n=86), abdominal pain (n=89), fatigue (n=111), malaise (n=104) and mucocutaneous manifestations (n=128). In 24 patients, relatives were affected as well. In 15 patients, genetic variants were found in autoinflammatory genes. Patients with genetic variants more often had affected relatives compared with patients without genetic variants (p=0.005). Most patients responded well to non-steroidal anti-inflammatory drugs (NSAIDs), corticosteroids, colchicine and anakinra. Complete remission was rarely achieved with NSAIDs alone. Notable patterns were found in patients with distinctive symptoms. Patients with pericarditis (n=11) were older at disease onset (33.8 years) and had fewer episodes per year (3.0/year) compared with other patients. Patients with an intellectual impairment (n=8) were younger at disease onset (2.2 years) and often had relatives affected (28.6%). Conclusion This study describes the clinical characteristics of a large cohort of patients with undefined SAIDs. Among these, patients with pericarditis and intellectual impairment appear to comprise distinct subsets.
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    Performance of current guidelines for diagnosis of macrophage activation syndrome complicating systemic juvenile idiopathic arthritis
    (2014-10-01) Davì, Sergio; Minoia, Francesca; Pistorio, Angela; Horne, Annacarin; Consolaro, Alessandro; Rosina, Silvia; Bovis, Francesca; Cimaz, Rolando; Gamir, Maria Luz; Ilowite, Norman T.; Kone-Paut, Isabelle; Feitosa De Oliveira, Sheila Knupp; McCurdy, Deborah; Silva, Clovis Artur; Sztajnbok, Flavio; Tsitsami, Elena; Unsal, Erbil; Weiss, Jennifer E.; Wulffraat, Nico; Abinun, Mario; Aggarwal, Amita; Apaz, Maria Teresa; Astigarraga, Itziar; Corona, Fabrizia; Cuttica, Ruben; D'Angelo, Gianfranco; Eisenstein, Eli M.; Hashad, Soad; Lepore, Loredana; Mulaosmanovic, Velma; Nielsen, Susan; Prahalad, Sampath; Rigante, Donato; Stanevicha, Valda; Sterba, Gary; Susic, Gordana; Takei, Syuji; Trauzeddel, Ralf; Zletni, Mabruka; Ruperto, Nicolino; Martini, Alberto; Cron, Randy Q.; Ravelli, Angelo; Rīga Stradiņš University
    Results The study sample included 362 patients with systemic JIA and MAS, 404 patients with active systemic JIA without MAS, and 345 patients with systemic infection. The best capacity to differentiate MAS from systemic JIA without MAS was found when the preliminary MAS guidelines were applied. The 3/5-adapted HLH-2004 guidelines performed better than the 4/5-adapted guidelines in distinguishing MAS from active systemic JIA without MAS. The 3/5-adapted HLH-2004 guidelines and the preliminary MAS guidelines with the addition of ferritin levels ≥500 ng/ml discriminated best between MAS and systemic infections. Conclusion The preliminary MAS guidelines showed the strongest ability to identify MAS in systemic JIA. The addition of hyperferritinemia enhanced their capacity to differentiate MAS from systemic infections. The HLH-2004 guidelines are likely not appropriate for identification of MAS in children with systemic JIA. Objective To compare the capacity of the 2004 diagnostic guidelines for hemophagocytic lymphohistiocytosis (HLH-2004) with the capacity of the preliminary diagnostic guidelines for systemic juvenile idiopathic arthritis (JIA)-associated macrophage activation syndrome (MAS) to discriminate MAS complicating systemic JIA from 2 potentially confusable conditions, represented by active systemic JIA without MAS and systemic infection. Methods International pediatric rheumatologists and hemato-oncologists were asked to retrospectively collect clinical information from patients with systemic JIA-associated MAS and confusable conditions. The ability of the guidelines to differentiate MAS from the control diseases was evaluated by calculating the sensitivity and specificity of each set of guidelines and the kappa statistics for concordance with the physician's diagnosis. Owing to the fact that not all patients were assessed for hemophagocytosis on bone marrow aspirates and given the lack of data on natural killer cell activity and soluble CD25 levels, the HLH-2004 guidelines were adapted to enable the diagnosis of MAS when 3 of 5 of the remaining items (3/5-adapted) or 4 of 5 of the remaining items (4/5-adapted) were present.
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    Pharmacovigilance in juvenile idiopathic arthritis patients treated with biologic or synthetic drugs : combined data of more than 15,000 patients from Pharmachild and national registries
    (2018-12-27) Swart, Joost; Giancane, Gabriella; Horneff, Gerd; Magnusson, Bo; Hofer, Michael; Alexeeva, Ekaterina; Panaviene, Violeta; Bader-Meunier, Brigitte; Anton, Jordi; Nielsen, Susan; De Benedetti, Fabrizio; Kamphuis, Sylvia; Stanevica, Valda; Tracahana, Maria; Ailioaie, Laura Marinela; Tsitsami, Elena; Klein, Ariane; Minden, Kirsten; Foeldvari, Ivan; Haas, Johannes Peter; Klotsche, Jens; Horne, Anna Carin; Consolaro, Alessandro; Bovis, Francesca; Bagnasco, Francesca; Pistorio, Angela; Martini, Alberto; Wulffraat, Nico; Ruperto, Nicolino; Department of Paediatrics
    ackgroundThe availability of methotrexate and the introduction of multiple biological agents have revolutionized the treatment of juvenile idiopathic arthritis (JIA). Several international and national drug registries have been implemented to accurately monitor the long-term safety/efficacy of these agents. This report aims to present the combined data coming from Pharmachild/PRINTO registry and the national registries from Germany (BiKeR) and Sweden.MethodsDescriptive statistics was used for demographic, clinical data, drug exposure, adverse events (AEs) and events of special interest (ESIs). For the Swedish register, AE data were not available.ResultsData from a total of 15,284 patients were reported: 8274 (54%) from the Pharmachild registry and 3990 (26%) and 3020 (20%) from the German and the Swedish registries, respectively. Pharmachild children showed a younger age (median of 5.4versus 7.6 years) at JIA onset and shorter disease duration at last available visit (5.3 versus 6.1-6.8) when compared with the other registries. The most frequent JIA category was the rheumatoid factor-negative polyarthritis (range of 24.6-29.9%). Methotrexate (61-84%) and etanercept (24%-61.8%) were the most frequently used synthetic and biologic disease-modifying anti-rheumatic drugs (DMARDs), respectively. There was a wide variability in glucocorticoid use (16.7-42.1%). Serious AEs were present in 572 (6.9%) patients in Pharmachild versus 297 (7.4%) in BiKeR. Infection and infestations were the most frequent AEs (29.4-30.1%) followed by gastrointestinal disorders (11.5-19.6%). The most frequent ESIs were infections (75.3-89%).ConclusionsThis article is the first attempt to present a very large sample of data on JIA patients from different national and international registries and represents the first proposal for data merging as the most powerful tool for future analysis of safety and effectiveness of immunosuppressive therapies in JIA.Registry registrationThe Pharmachild registry is registered at ClinicalTrials.gov (NCT01399281) and at the European Network of Centres for Pharmacoepidemiology and Pharmacovigilance (ENCePP) (http://www.encepp.eu/encepp/viewResource.htm?id=19362). The BiKeR registry is registered at ENCePP (http://www.encepp.eu/encepp/viewResource.htm?id=20591).