Objectives: To summarise the evidence of colchicine's effects on fertility, pregnancy, and lactation in the treatment of patients with familial Mediterranean fever (FMF).
Methods: Two reviewers and a methodologist conducted the systematic review. Together with an expert in FMF, they established the protocol and the PICOt questions.
Background: Macrophage activation syndrome (MAS) is a severe complication of systemic juvenile idiopathic arthritis (sJIA), driven by excessive activation of T cells and macrophages, resulting in a cytokine storm. IFN-γ and IL-18 play crucial roles, with monocyte and macrophage hyperresponsiveness to IFN-γ amplifying MAS-related inflammation. Familial Mediterranean Fever (FMF), an autosomal recessive disease, is characterized by recurrent fever episodes due to MEFV gene mutations.
View Article and Find Full Text PDFUnlabelled: Systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD) are considered the same disease, but a common approach for diagnosis and management is still missing.
Methods: In May 2022, EULAR and PReS endorsed a proposal for a joint task force (TF) to develop recommendations for the diagnosis and management of sJIA and AOSD. The TF agreed during a first meeting to address four topics: similarity between sJIA and AOSD, diagnostic biomarkers, therapeutic targets and strategies and complications including macrophage activation syndrome (MAS).
Objectives: JIA is the most common rheumatic disease of childhood; the pathogenesis is associated with T-cell activation. T-cell activation can be counterbalanced by signals generated by inhibitory receptors (IRs) such as CTLA-4, PD-1, LAG-3 and TIM-3. Here, we identify the role of IRs in the pathogenesis of different JIA subtypes.
View Article and Find Full Text PDFObjective: We aimed to investigate the presence of monogenic causes of systemic lupus erythematosus (SLE) in our early-onset SLE patients.
Methods: Fifteen pediatric SLE cases who had early disease onset (≤6 years) were enrolled in this study. All patients fulfilled the Systemic Lupus International Collaborating Clinics (SLICC) criteria.
5,6-dimethylxanthenone-4-acetic acid (DMXAA) is a mouse-selective stimulator of interferon gene (STING) agonist exerting STING-dependent anti-tumor activity. Although DMXAA cannot fully activate human STING, DMXAA reached phase III in lung cancer clinical trials. How DMXAA is effective against human lung cancer is completely unknown.
View Article and Find Full Text PDFObjective: The COVID-19 pandemic has affected patient care in general. We aimed to analyze the impact of the pandemic on pediatric rheumatology practice.
Methods: An online survey including 22 questions was created by the representatives of the Emerging RheumatoloGists and rEsearchers (EMERGE) group of the Pediatric Rheumatology European Society (PReS) on SurveyMonkey.
Rheumatology (Oxford)
September 2024
Objective: Patients with Behçet's disease (BD) may experience long-term morbidity caused by various forms of cardiovascular disease. This study aimed to assess the risk for cardiovascular comorbidity in paediatric BD patients with and without vascular involvement, independent of the contribution of traditional risk factors.
Methods: Paediatric patients classified as having BD according to the 2015 Peadiatric BD (PEDBD) criteria were included in the study.
Background: IgA vasculitis (IgAV) is the most common form of childhood vasculitis. A better understanding of its pathophysiology is required to identify new potential biomarkers and treatment targets.
Objective: to assess the underlying molecular mechanisms in the pathogenesis of IgAV using an untargeted proteomics approach.
Pediatric mixed connective tissue disease (MCTD) is a subgroup of overlap syndromes. We aimed to compare the characteristics and outcomes in children with MCTD and other overlap syndromes. All MCTD patients met either Kasukawa or Alarcon-Segovia and Villareal criteria.
View Article and Find Full Text PDFCrimean-Congo hemorrhagic fever (CCHF), endemic in certain regions of the world, is listed as a priority disease with pandemic potential. Since CCHF was first identified in Turkey, children have been known to experience milder disease than adults. However, during the COVID-19 pandemic, we observed an unusually severe disease course, including hemophagocytic lymphohistiocytosis (HLH).
View Article and Find Full Text PDFSemin Arthritis Rheum
February 2023
Background/objectives: The aim of our study is twofold: To evaluate the presentation, diagnosis, clinical course, and management of juvenile dermatomyositis (JDM) in children under three years of age, and to compare with older-onset patients.
Methods: Nine patients with early-onset, and 63 patients with older-onset JDM followed between December 2010 and April 2022 are included. We also reviewed the literature on early-onset JDM from the inceptions of the PubMed/MEDLINE and Scopus databases up to April 1st, 2022.
Pediatric primary antiphospholipid syndrome (APS) is a very rare disease with significant distinctions from the APS in adults. Herein, we present our experience in the diagnosis and treatment of six pediatric primary APS patients, who met the updated Sapporo criteria for the APS diagnosis. One of them was also diagnosed as having probable catastrophic APS (CAPS) due to the involvement of three different organ systems simultaneously.
View Article and Find Full Text PDFRheumatology (Oxford)
February 2023
Objectives: The lower extremity venous wall thickness (VWT) of Behçet's disease (BD) patients was reported to be significantly increased in adults, suggesting its use for the support of BD diagnosis. This prospective study aimed to investigate the lower extremity VWT in childhood-onset definite and incomplete BD patients and compare it to healthy age-matched controls.
Methods: Paediatric patients classified with BD according to the 2015 international paediatric BD criteria in our centre were included in the study.
Background: Coronavirus disease 19 (COVID-19) may have a severe course in children. Multisystem inflammatory syndrome in children (MIS-C) is the post-COVID complication characterized by an exaggerated inflammation, observed in children. However, data on the underlying pathophysiology are sparse.
View Article and Find Full Text PDFAutoimmune diseases have been reported in association with neurofibromatosis type 1 (NF1) in adults. Two children with NF1 and concurrent autoimmune diseases: antimuscle-specific kinase antibody-positive myasthenia and juvenile idiopathic arthritis are reported. The possible mechanisms of autoimmunity in NF1, particularly dysregulation in T lymphocyte proliferation and exposure to free DNA were discussed.
View Article and Find Full Text PDFOTULIN is a linear deubiquitinase that negatively regulates the nuclear factor κB (NF-κB) signaling pathway. Patients with OTULIN deficiency, termed as otulipenia or OTULIN-related autoinflammatory syndrome, present with early onset severe systemic inflammation due to increased NF-κB activation. We aimed to investigate additional disease mechanisms of OTULIN deficiency.
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