259 research outputs found
Neonatal-onset multisystem inflammatory disease (NOMID) due to a novel S331R mutation of the CIAS1 gene and response to interleukin-1 receptor antagonist treatment
No full textNeonatal-onset multisystem inflammatory disease (NOMID) is due to mutations in the CIAS1 gene. We describe the case of a 5-year-old boy with neonatal onset of urticaria-like rash, chronic fever, laboratory findings of systemic inflammation, hepatosplenomegaly, and chronic CNS inflammation associated with sensorineural deafness. Sequence analysis of exon 3 of the CIAS1 gene revealed a novel C1754A/S33IR Mutation. Since experimental evidence Suggests that patients with cryopyrin-associated periodic syndromes (CAPS) could respond to inhibition of binding of interleukin IL-1 alpha and IL-1 beta to the IL-1 receptor type 1, we treated the child with the IL-1 receptor antagonist anakinra. A remarkable clinical and serological response to therapy was observed, suggesting that pharmacological inhibition of the IL-1 signaling pathway offers an important new treatment option for patients with NOMID. (c) 2006 Wiley-Liss, Inc
sj-pdf-1-jso-10.1177_23971983231164700 – Supplemental material for Application and performance of disease activity indices proposed for patients with systemic sclerosis in an international cohort of patients with juvenile systemic sclerosis
No full textSupplemental material, sj-pdf-1-jso-10.1177_23971983231164700 for Application and performance of disease activity indices proposed for patients with systemic sclerosis in an international cohort of patients with juvenile systemic sclerosis by Jens Klotsche, Kathryn S Torok, Ozgur Kasapcopur, Amra Adrovic, Maria Teresa Terreri, Ana Paula Sakamoto, Maria Katsicas, Flavio Sztajnbok, Edoardo Marrani, Alberto Sifuentes-Giraldo, Valda Stanevicha, Jordi Anton, Brian Feldmann, Mikhail Kostik, Dana Nemcova, Maria Jose Santos, Simone Appenzeller, Tadej Avcin, Cristina Battagliotti, Lillemor Berntson, Blanca Bica, Jürgen Brunner, Despina Eleftheriou, Liora Harel, Gerd Horneff, Tilmann Kallinich, Kirsten Minden, Susan Nielsen, Anjali Patwardhan, Nicola Helmus and Ivan Foeldvari in Journal of Scleroderma and Related Disorders</p
Comparing ultraviolet light A photo(chemo)therapy with Methotrexate protocol in childhood localized scleroderma : evidence from systematic review and meta-analysis approach
No full textOBJECTIVE:
Localized scleroderma is a skin fibrosing disorder that, if untreated, may result in severe disability. The purpose of this systematic review is to compare the present evidence concerning the effectiveness of Methotrexate versus phototherapy, alone or associated with Psoralen, in childhood localized scleroderma.
METHOD:
A systematic search between January 1996 and May 2017 was performed to identify studies investigating the efficacy of Methotrexate (MTX) or phototherapy (UVA) for treating localized scleroderma with onset ≤18 years. Due to a lack of validated clinical criteria, four clinical response criteria were used to assess the treatment efficacy as primary outcome. We determined a combined estimate of the proportion of children responding to MTX and UVA.
RESULTS:
A total of 19 studies was included (8 MTX; 11 UVA). In the methotrexate group, 193 children were included in the analysis; in the phototherapy group, a total of 48 treated children. For both groups age, disease subtype, glucocorticoids (GCs) use, and side effects of treatment were also analyzed. The meta-analysis suggested that UVA and MTX protocols have both a favorable effect in active lesions of childhood localized scleroderma. However, MTX resulted significantly superior to UVA, with or without Psoralen.
CONCLUSION:
Our study supports the combination of MTX and GCs in patients with a high risk of complication. Phototherapy with UVA1 could represent a therapeutic option in patients with limited scleroderma, where lesions do not cross joints and they do not lead to potential cosmetic changes
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