Longitudinal follow-up of mixed connective tissue disease and overlapping autoimmune diseases of childhood onset in the Afro-descendant population of the French West Indies
Overlap autoimmune syndromes (OAS) and mixed connective tissue disease (MCTD) are rare in children. We performed a retrospective, longitudinal and descriptive study of Afro-Caribbean patients from the French W... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 11, 2024 Category: Rheumatology Authors: Arthur Felix, Lindsay Osei, Frederique Delion, Benoit Suzon, Aurore Abel, Moustapha Drame, Yves Hatchuel, Christophe Deligny and Fabienne Louis-Sidney Tags: Short Report Source Type: research
Tocilizumab for treating mevalonate kinase deficiency and TNF receptor-associated periodic syndrome: a case series and literature review
Mevalonate kinase deficiency (MKD) and TNF receptor-associated periodic syndrome (TRAPS) are categorized as systemic autoinflammatory diseases (SAIDs), which are rare diseases characterized by early onset, sev... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 5, 2024 Category: Rheumatology Authors: Yandie Li and Meiping Lu Tags: Case Report Source Type: research
A20 haploinsufficiency in a neonate caused by a large deletion on chromosome 6q
Haploinsufficiency of A20 (HA20) is a rare monogenic disease caused by heterozygous loss-of-function mutations in the tumor necrosis factor alpha-induced protein 3 (TNFAIP3) gene located on chromosome 6q23.3. The... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 5, 2024 Category: Rheumatology Authors: Fan Zhang and Liang Zhang Tags: Review Source Type: research
The 4th NextGen therapies of SJIA and MAS, part 4: it is time for IL-18 based trials in systemic juvenile idiopathic arthritis?
Since IL-18 has recently emerged as a biomarker associated with refractory disease course in SJIA, the focus of the discussion was the feasibility of the biomarker-driven drug development to SJIA. Overall, the... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 5, 2024 Category: Rheumatology Authors: Scott W. Canna and Fabrizio De Benedetti Tags: Meeting report Source Type: research
The 4th NextGen therapies for SJIA and MAS: part 2 phenotypes of refractory SJIA and the landscape for clinical trials in refractory SJIA
Although the introduction of the IL-1 and IL-6 inhibiting biologics in 2012 has revolutionized the treatment and markedly improved outcomes for many patients with SJIA, about 20% of these patients continue to ... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 5, 2024 Category: Rheumatology Authors: Grant Schulert, Sebastiaan J. Vastert and Alexei A. Grom Tags: Meeting report Source Type: research
Proceedings from the 4th NextGen Therapies for SJIA and MAS virtual symposium held February 13 –14, 2022
(Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 5, 2024 Category: Rheumatology Authors: Rashmi Sinha, Fabrizio De Benedetti and Alexei A. Grom Tags: Introduction Source Type: research
Juvenile idiopathic recurrent parotitis (JIRP) treated with short course steroids, a case series study and one decade follow up for potential autoimmune disorder
Juvenile idiopathic recurrent parotitis (JIRP) in children is a condition characterized with recurrent episodes of idiopathic parotid gland inflammation. Since there are no definitive guidelines for diagnosis ... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 4, 2024 Category: Rheumatology Authors: Farhad Salehzadeh, Rasol Molatefi, Ali Mardi and Negin Nahanmoghaddam Tags: Letter to the Editor Source Type: research
A rare manifestation of STING-associated vasculopathy with onset in infancy: a case report
STING-associated vasculopathy with onset in infancy (SAVI) is a rare type I interferonopathy caused by heterozygous variants in the STING gene. In SAVI, STING variants confer a gain-of-function which causes overa... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 4, 2024 Category: Rheumatology Authors: Sophia Weidler, Sarah Koss, Christine Wolf, Nadja Lucas, J ürgen Brunner and Min Ae Lee-Kirsch Tags: Case Report Source Type: research
The 4th NextGen therapies for SJIA and MAS: part 3 clinical trials in refractory SJIA: historic controls as an alternative to a withdrawal design study
The substantial morbidity and mortality associated with refractory systemic JIA underlies the need for new treatment approaches. However, progress in this area has been limited by the difficulty of enrolling t... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 3, 2024 Category: Rheumatology Authors: Fabrizio de Benedetti, Alexei A. Grom and Hermine Brunner Tags: Meeting report Source Type: research
Methotrexate inhibits BMP4 and abrogates the hypertrophic chondrocyte phenotype of synovial fibroblasts in juvenile idiopathic arthritis
Juvenile Idiopathic Arthritis (JIA) induces growth disturbances in affected joints. Fibroblast-like synoviocytes (FLS) play a crucial role in JIA pathogenesis. FLS overexpress bone morphogenetic protein 4 (BMP... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 2, 2024 Category: Rheumatology Authors: Megan M. Simonds, Samuel T. Freer and Anne Marie C. Brescia Tags: Research article Source Type: research
Pediatrics severe low back pain by disc herniation: an uncommon entity
Common severe back pain due to disc herniation is rare in the paediatric population which involves children under eighteen years of age. Paediatric lumbar disc herniation (LDH) cannot be considered the same di... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 2, 2024 Category: Rheumatology Authors: Wendlassida Joelle St éphanie Tiendrebeogo/Zabsonre, Denlewende Sylvain Zabsonre, Fulgence Kabore, Abdoulaye Sanou, Yakouba Haro, Inoussa Zoungrana and Dieu-Donné Ouedraogo Tags: Case Report Source Type: research
Local injection of infliximab into calcinosis lesions in patients with juvenile dermatomyositis (JDM): a clinical trial
Juvenile Dermatomyositis (JDM) is a rare autoimmune disorder that primarily affects muscles and skin. One of the severe complications associated with JDM is calcinosis, and treating this condition presents sig... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 2, 2024 Category: Rheumatology Authors: Reza Shiari, Mitra Khalili, Vahide Zeinali, Niloufar Shashaani, Mohammad Samami and Foroughossadat Hosseini Moghaddamemami Tags: Research article Source Type: research
Predictors of fibrogenesis in children with JIA: a single-center pilot study
Patients with rheumatological diseases are at high risk of developing irreversible fibrotic changes, both articular and extra-articular, as a result of tissue damage caused by the chronic phase of persistent i... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 2, 2024 Category: Rheumatology Authors: Olga Pavlova, Natalia Shevchenko, Sergey Pavlov, Tetiana Holovko and Liudmyla Bogmat Tags: Research article Source Type: research
A rare case of coronary artery complication in a child with systemic juvenile idiopathic arthritis and macrophage activation syndrome: case report and literature review
A rare case of coronary artery involvement in a child with Systemic Juvenile Idiopathic Arthritis (sJIA) complicated by Macrophage Activation Syndrome (MAS) is reported. The patient initially received an inacc... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - January 2, 2024 Category: Rheumatology Authors: Lian Zhang, Yanwen Wei, Ningjing Zeng, Lianyu Wang, Xinying Chen, Jinghua Yang and Xiaolan Xiao Tags: Case Report Source Type: research
Transition readiness among finnish adolescents with juvenile idiopathic arthritis
With chronic diseases, the responsibility for care transfers to adult clinics at some point. Juvenile idiopathic arthritis (JIA) is the most common persistent rheumatic condition in children. A successful tran... (Source: Pediatric Rheumatology)
Source: Pediatric Rheumatology - December 21, 2023 Category: Rheumatology Authors: Mikola Katriina, Rebane Katariina, Kautiainen Hannu and Aalto Kristiina Tags: Research article Source Type: research
