Hatice Adiguzel Dundar

Introduction: Chronic nonbacterial osteomyelitis (CNO) is a rare autoinflammatory bone disorder. To standardize management, the Childhood Arthritis and Rheumatology Research Alliance (CARRA) developed three consensus treatment plans (CTPs) (1: methotrexate or sulfasalazine [conventional disease-modifying antirheumatic drugs; DMARDs], 2: tumor necrosis factor (TNF)-alpha inhibitors (TNFi), and 3: bisphosphonates). The Clinical Disease Activity Score (CNO CDAS) was introduced to assess disease activity without relying solely on imaging. Objective: The objectives were to evaluate clinicians’ tendencies in applying CNO-CTPs and to assess treatment responses using CNO CDAS in real-world practice, including therapeutic strategies and outcomes at final follow-up. Methods: A retrospective cohort study of 171 pediatric patients with CNO from 18 centers was conducted. Disease activity was assessed using CDAS at diagnosis, at treatment modification, and at the last visit. This score incorporates clinically active lesions, patient pain, and global assessment. Treatments included NSAIDs, DMARDs, TNFi, and pamidronate. Results: Median age was 10 years at onset and 14 years at last follow-up, with a median follow-up of 36 months. The most frequent symptoms were bone pain (95.3%), activity limitation (67.8%), and fatigue (35.1%). All patients received NSAIDs; methotrexate (85.4%) and TNFi (54.4%) were commonly used. TNF inhibitors were the most used CTP, especially in patients with spinal involvement or higher MRI lesion counts, and they achieved the highest remission rate (40.4%). Of the 89 (52.0%) patients who changed treatment, 93.2% switched from DMARDs to TNFi. At the final follow-up, 62% were in medicated remission, 29.2% were in unmedicated remission, and 8.8% had active disease. CDAS scores significantly improved over time (p < 0.05). Conclusions: CARRA CTPs are effective in clinical practice, with anti-TNF therapy yielding the highest remission rates and marked improvement in CDAS.

Introduction: Juvenile dermatomyositis (JDM) is the most common inflammatory myopathy in childhood and exhibits a heterogeneous disease course. This study aimed to analyse and identify phenotypic clusters by examining the laboratory findings, nailfold capillaroscopy results, and myositis- specific autoantibodies (MSAs) in patients with JDM. Material and methods: This retrospective cohort study included data from patients with JDM treated at the Paediatric Rheumatology Departments of 14 advanced health centres in Turkey. A categorical principal component analysis (CATPCA)-based hierarchical cluster analysis method was employed for clustering. Results: A total of 176 JDM patients were enrolled, and 5 phenotypic clusters were identified using 23 categorical variables. These clusters were interpreted as follows: Cluster A with severe muscle weakness and oesophageal involvement requiring intensive immunosuppressive treatment; Cluster B with amyopathic/hypomyopathic patients; Cluster C with skin manifestations and lung involvement; Cluster D with complicated skin manifestations; and Cluster E with classic JDM. The clinical and laboratory findings and treatments of these 5 clusters were compared. Fatigue, myalgia, photosensiti­vity, Raynaud’s phenomenon, and the use of pulse glucocorticosteroids, intravenous immuno­globulin, and cyclophosphamide treatments differed between the groups (p < 0.001, p = 0.002, p = 0.015, p = 0.036, p = 0.002, p = 0.006, and p = 0.024, respectively). Myositis-specific autoantibodies results were available for 119 patients (65.3%). The most frequent MSAs were antinuclear matrix protein 2 (26.1%) and anti-transcription intermediary factor 1 (20.9%). However, no significant differences were found in MSAs or nailfold capillaroscopy findings. Conclusions: We identified 5 clusters based on patient symptoms and findings. The identification of these 5 clusters can guide more effective treatment strategies in clinical practice. Additionally, these approaches may contribute to improving patients’ quality of life and long-term outcomes by increasing the feasibility of individualised treatment.

Objective: The objective of this study was to evaluate the novel Musculoskeletal Ultrasound Sum Score (MUSS) as a longitudinal marker of disease activity (DA) in patients with JIA within a treat-to-target management approach. Methods: Demographics, clinical, laboratory and US (B Mode, BM; Power Doppler Ultrasound, PDU; scored 0–3, using the paediatric OMERACT score) findings were recorded over a 1-year follow-up in the PRO-KIND cohort. The US imaging of joints was individual to the patient, determined by the treating clinicians (unaware of the study aims) as routine. MUSS (a combination of the highest single BM grade of all examined joints + the highest single PDU grade of all examined joints) was calculated (maximum score 6). Spearman correlations with clinical activity measures and ROC-derived MUSS cut-offs for clinical inactive disease were calculated, using pooled visit-level data. Results: Thirty-three JIA patients were included (oligoarthritis: n = 12, median age 4.4 years; polyarthritis: n = 21, 5.3 years). The median baseline MUSS was similar between subtypes. MUSS values decreased significantly over follow-up, paralleling improvements in JADAS-10 and global assessment scores. MUSS correlated strongly with JADAS-10, physician and parent/patient global scores (Ρ = 0.68–0.81; all P < 0.001) and with ESR in polyarthritis (Ρ = 0.57; P < 0.001). ROC analysis identified a MUSS cut-off of ≥1 as optimal for detecting active disease (specificity 100%, sensitivity 55%). Conclusion: MUSS is a promising, feasible sonographic score for longitudinal monitoring of disease activity in JIA, showing strong correlations with clinical measures and excellent specificity for active disease at a cut-off of ≥1. Validation in independent, prospective cohorts is warranted.

Introduction: Juvenile spondyloarthropathies (JSpA) are a group of chronic inflammatory diseases that differ in their clinical features and course from adult spondyloarthropathies and other subtypes of juvenile idiopathic arthritis (JIA). Therefore, defining disease inactivity in JSpA requires specific criteria. This Delphi study aimed to establish a national consensus on its core clinical, laboratory, and radiological domains. Methods: A total of 27 pediatric rheumatologists participated in the Delphi survey, conducted in two rounds. Participants were asked multiple‐choice and Likert‐type questions regarding their preferences for using domains including anamnesis, laboratory findings, imaging methods, and predefined disease activity scores for assessing inactivity. At the end of each round, the study coordinators determined the “strong consensus” items based on a power analysis of these parameters. Results: The absence of “pain or tenderness in the peripheral joints, lower back and entheseal regions” in anamnesis domain and “tenderness in the peripheral joints, entheseal areas, and hip examination”; “swelling in the peripheral joints; tenderness on sacroiliac compression testing”; and “no reduction in hip RoM examination” in physical examination domain received the highest scores and were accepted as strong consensus. Furthermore, normalization of MRI findings of SIJ and hip/peripheral joint and “physician global score = 0” reached the specified thresholds, resulting in strong consensus following the second round. Conclusions: This Delphi study highlights the need for a multidimensional approach that integrates clinical, radiological, and physician assessments to define disease inactivity in patients with JSpA. The resulting consensus provides a more specific assessment on inactivity defining JSpA patients and reflects a national consensus.

Objective: Juvenile idiopathic arthritis (JIA) is the most common chronic childhood arthritis, with distinct categories based on pathophysiology and clinical manifestations. The age of onset varies by category but is reported to be approximately six years. This study aimed to evaluate the clinical, laboratory and outcome characteristics of patients with infantile-onset JIA. Methods: This multicentre retrospective study included patients with JIA whose symptoms were onset before the age of two. Results: This study included 199 patients with a median age at symptom onset of 17 months and a median age at diagnosis of 20 months. The most common JIA categories were persistent oligoarticular (59.8%), systemic (13.6%) and rheumatoid factor (RF)-negative polyarticular (11.6%). Patients with symptom onset ≤12 months had a significantly higher prevalence of RF-negative polyarticular and systemic JIA, whereas those with onset >12 months had a higher prevalence of persistent oligoarticular JIA. Antinuclear antibody positivity was significantly higher in patients with disease onset >12 months, whereas uveitis development was more common in those with onset ≤12 months. The wrist, hand proximal interphalangeal (PIP) and foot PIP joints were significantly more frequently affected in patients with early-onset disease. At the last visit, 59.8% of the patients were in remission with medication and 18.1% were in remission without medication. Conclusion: This study suggests that patients with infantile-onset JIA exhibit distinct characteristics regarding JIA category, joint involvement and uveitis development, highlighting the need for further research and potential reconsideration of current age thresholds in the JIA classification.

Objectives: This study aimed to evaluate the predictability of the homozygous M694V genotype in paediatric FMF patients and to develop a clinical scoring system to enhance disease management strategies. Methods: This nationwide, multicentre, cross-sectional study included 3981 paediatric FMF patients with biallelic pathogenic variants in exon 10 of the Mediterranean fever gene. Patients were divided into two groups: group 1 (homozygous M694V) and group 2 (other variants). Data were collected from 37 paediatric rheumatology and/or nephrology clinics across Türkiye, covering patients followed between 2014 and 2023. Results: Group 1 had significantly earlier symptom onset (≤3 years: 49.8% vs 43.9%, P < 0.001) and diagnosis (median age: 5 years vs 5.8 years, P < 0.001) compared with group 2. A higher prevalence of family history of FMF was observed in group 1 (P < 0.001). Clinical manifestations, including arthritis (27.5%), erysipelas-like erythema (ELE) (20.3%) and protracted febrile myalgia syndrome (PFMS) (3.6%), were significantly more frequent in group 1 (P < 0.001 for all). Colchicine resistance was also higher in group 1 (18.1% vs 5.1%, P < 0.001). Logistic regression analysis showed that ≤3 years of age at symptom onset, family history, arthritis, myalgia, PFMS, ELE and splenomegaly were independent predictors of the homozygous M694V genotype. A clinical scoring system was proposed based on these findings. Conclusion: This study provides valuable insights into the clinical predictors of the homozygous M694V genotype in paediatric FMF. The proposed scoring system will support clinicians in prognosis assessment and treatment planning, contributing to improved patient outcomes.