Balahan Makay

Objectives: The objective of this study was to develop and test a composite DAS for JDM solely based on parent-reported outcomes (PROs). Methods: The parent JDM Activity Index (ParJDMAI) includes the following four PROs: (1) global assessment of disease activity; (2) assessment of fatigue; (3) assessment of muscle disease activity; (4) assessment of skin disease activity. Each item is weighted on a 0–10 scale, which yields a total score ranging from 0 to 40. Validation procedures were conducted on a multicentre sample of 254 patients with JDM according to the OMERACT filter for outcome measures in rheumatology. Results: The ParJDMAI is short and simple, and is quick, taking <10 minutes to complete and score, which makes it practical for use in standard clinical care. In validation analyses, the tool demonstrated good construct validity, satisfactory internal consistency (Cronbach’s alpha 0.86) and structure (with unambiguous identification of one factor with eigenvalue 2.9 on exploratory factor analysis), strong ability to discriminate between physician-estimated disease activity states (P < 0.001), and fair responsiveness to clinically important change over time (standardized response mean 0.8 among patients judged as improved by the parents). The ParJDMAI correlated strongly with physician-centred measures of disease activity. Conclusion: The ParJDMAI was found to be feasible and to possess good measurement properties. It also proved to potentially serve as a surrogate for physicians’ evaluations. Completion of the ParJDMAI through digital technologies may provide a reliable and pragmatic approach for building a remote patient-monitoring program.

Objectives: This study aimed to evaluate the rate of successful transitions, identify factors associated with early versus late transitions, and diagnosis and treatment changes after transition into adult rheumatology. Patients and methods: In this retrospective study, patients with childhood-onset rheumatic diseases who transitioned from pediatric to adult rheumatology care between January 2013 and January 2023 were screened for a successful transition. Successful transitions were defined as maintaining annual visits to the adult rheumatology clinic after transition. Early transition was defined as less than three months between the last pediatric and first adult rheumatology visits. Results: Out of 2,552 referred patients, 210 (8.2%) patients (117 females, 93 males; mean age: 25.2±5.6 years; range, 18 to 44 years) transitioned successfully. Juvenile idiopathic arthritis and familial Mediterranean fever were the most prevalent rheumatic diseases. The median transition time was four months (interquartile range, 1 to 13 months) in patients with successful transition, and the early transition rate was 46.7%. Receiving biologic disease-modifying antirheumatic drugs was found to be associated with early transition (28.6% vs. 17.0%, p=0.040), and higher education levels and familial Mediterranean fever diagnosis were found to be associated with late transition. The treatment was changed for about half of the patients after transition to adult rheumatology. Patients with juvenile idiopathic arthritis were reclassified in 25 (31.6%) patients as rheumatoid arthritis, in 22 (27.8%) patients as ankylosing spondylitis, in 20 (25.3%) patients as nonradiographic axial spondyloarthritis, and in eight (10.1%) patients as psoriatic arthritis. Conclusion: A successful transition to adult rheumatology is essential for adolescents and young adults with childhood-onset rheumatic diseases. The successful transition rate in this study was relatively low, highlighting the need for standardized transition programs.

Objectives: This study aimed to investigate coronavirus disease 2019 (COVID-19) vaccination rates and factors affecting vaccination in children with rheumatic diseases. Patients and methods: This multicenter cross-sectional survey-based study was conducted between July 2022 and September 2022. Four hundred seventy-four patients (256 females, 218 males; median age: 15 years; interquartile range, 13 to 16 years) were included in the patient group, and 211 healthy children (124 females, 87 males; median age: 15 years; interquartile range, 13 to 16 years) were included in the control group. A questionnaire was administered to the parents face-to-face during routine outpatient visits. Results: Of the patients, 220 were followed up with the diagnosis of autoinflammatory disease, 174 with juvenile idiopathic arthritis, 48 with connective tissue disease, 23 with vasculitis, eight with uveitis, and one with sarcoidosis. In the study group, 256 (54%) patients and 115 (54.5%) healthy children received at least one dose of COVID-19 vaccine. Parents' concern regarding potential side effects of the vaccine was the most common reason for COVID-19 vaccination hesitancy in both groups. The median patient age, follow-up period, colchicine treatment rates, childhood vaccination and influenza vaccination rates, median parental age, parental vaccination rate, and parental education level were higher in vaccinated patients (p

Purpose: Familial Mediterranean fever (FMF) is the most common inherited autoinflammatory syndrome throughout the world. The most frequent genotype-phenotype correlation is in a certain part of exon 10, especially M694V mutation. There are also a group of patients with non-exon 10 mutations, who have a similar clinical spectrum of the disease. We aim to investigate the genotype-phenotype differences between M694V heterozygote mutations and non-exon 10 mutations. Materials and methods: Data charts of children (n=431) with FMF from two tertiary hospitals were reviewed. Patients were divided into two groups with regard to having M694V heterozygote or non-exon 10 mutations. Genotype-phenotype features and response to treatment were compared. Results: There were M694V heterozygote mutations in 128 (29.7%) patients and non-exon 10 mutations in 303 (70.3%) patients. The follow-up period was 54.5 (33-105) months. There was no difference between the age of symptoms onset, the age of diagnosis, and the diagnosis delay time. The family history in patients with M694V heterozygote mutation was statistically positive compared to non-exon 10 mutation group (p=0.001). The symptoms of joint involvement as arthritis and PRAS scores were significantly higher in the M694V heterozygote group (p=0.026 and p=0.001). Additionally, biological agent need due to colchicine unresponsiveness was statistically higher in M694V heterozygote group than group with non-exon 10 mutation (p=0.004). Conclusion: There is a significant difference between children with M694V and non-exon 10 mutations, even when the M694V mutation is present in one allele only. Family history with FMF, musculoskeletal symptoms, and unresponsiveness to colchicine are main parameters.

Objectives: The study aimed to determine the factors that increase the risk of disease flare in patients with juvenile idiopathic arthritis who stopped methotrexate (MTX) monotherapy following inactive disease (ID). Patients and methods: In the retrospective study, files of all juvenile idiopathic arthritis cases between April 1992 and June 2022 were examined. Patients who stopped MTX monotherapy following ID were evaluated. Patients with disease flare and persistent ID were compared. Juvenile idiopathic arthritis subgroup, age of symptom onset, autoantibodies, acute phase reactants, MTX method of use, and withdrawal strategy were recorded. Systemic juvenile idiopathic arthritis patients were excluded from the study due to different clinical symptoms, diagnosis, and treatment methods. Results: Files of 1,036 patients were evaluated, and 107 patients (88 females, 19 males; mean age: 5.9±4.2 years; range, 0.8-16.5 years) were included in the study. The median age at symptom onset was 4.8 (interquartile range [IQR]: 2-7.6) years. In terms of juvenile idiopathic arthritis subgroups, 52 (48.6%) had oligoarticular juvenile idiopathic arthritis, 43 (40.2%) had polyarticular juvenile idiopathic arthritis, and 12 (11.2%) had juvenile psoriatic arthritis. The patients reached ID in nine (IQR: 4.8-17.7) months after starting MTX, and MTX treatment was discontinued after one (IQR: 0.7-1.3) year following ID. The disease flare developed in 59 (55%) of the cases. The ID continued in 48 (45%) patients. In multivariate analysis, the risk of flare was associated with younger symptom onset (odds ratio [OR]=2.2, p=0.006), antinuclear antibody positivity (OR=1.6, p=0.03), higher erythrocyte sedimentation rate (OR=1.01, p=0.04), and C-reactive protein (OR=1, p=0.02) at the MTX onset. No difference was observed between the two groups regarding MTX dose, route of administration, prior and concomitant treatments, time to reach ID, and time and method of MTX discontinuation. Conclusion: In this study, the risk of flare was associated with patient’s characteristics, rather than the administration and discontinuation method of MTX.

Objectives: This study aimed to evaluate the risk of tuberculosis (TB) disease in children receiving biological agents for rheumatologic diseases, focusing on appropriate screening tests in a high-priority country for TB control. Patients and methods: One hundred nine children (56 females, 53 males; range, 3.4 to 16.2 years) who received any biological agent for rheumatologic diseases for more than two years between May 2012 and October 2021 were included in this retrospective study. Patients were screened for TB infection using tuberculin skin test (TST) or interferon-gamma release assay (IGRA). Following the initial evaluation, patients were clinically examined for TB every three months by a comprehensive medical history and physical examination, and every 12 months using TST or IGRA. Results: At the initiation of the biological agent, the patients’ mean age was 12.4±4.5 years. The average follow-up duration was 3.6±1.3 years (range, 2.6 to 10.2 years) for patients treated with biological agents. Each patient had a documented Bacillus Calmette-Guérin vaccination. Before the initiating of therapy, TST was performed alone in 45 (41.3%) patients and in combination with IGRA in 64 (58.7%) patients. In the 64 patients who underwent both TST and IGRA, IGRA revealed nine (14.1%) positive results. Six (66.7%) of these nine patients, however, had negative baseline TST. Four (7.3%) of the 55 individuals whose initial IGRA results were negative also had positive TST results. Overall, no TB disease was observed after a follow-up period. Conclusion: This study reveals that biological agents were not associated with an increased risk of TB disease in closely monitored children. Additionally, the concomitant use of TST and IGRA for screening of TB is reasonable in patients receiving biological agents.

Aim The aim of this study was to investigate the frequency and type of FMF-associated inflammatory diseases in a large FMF pediatric patients and to compare them to those FMF patients without concomitant inflammatory diseases. Materials and methods Familial Mediterranean fever patients enrolled in the Pediatric Rheumatology Academy (PeRA)-Research Group (RG) were included. The patients were divided into two groups according to concomitant inflammatory disease as FMF patients who had a concomitant inflammatory disease (group 1) and FMF patients who did not have a concomitant inflammatory disease (group 1). The clinical findings and treatments were compared between the two groups. Results The study group comprised 3475 patients with FMF. There were 294 patients (8.5%) in group 1 and 3181 patients (91.5%) in group 2. Juvenile idiopathic arthritis (n = 136) was the most common accompanying inflammatory disease. Arthritis, M694V homozygosity, and the need for biological therapy were more frequently observed in Group 1 (p < 0.05). Fever and abdominal pain were more frequently detected in Group 2 (p < 0.05). FMF patients with concomitant inflammatory diseas more frequently demonstrated colchicine resistance. There were no significant differences in the median attack frequency, chest pain, amyloidosis, erysipelas-like erythema, or family history of FMF between the two patient groups. Conclusion To the best of our knowledge, this is the largest pediatric cohort reviewed to date. FMF patients may have different clinical profiles and colchicine responses if they have with concomitant inflammatory diseases. Key points • FMF is associated with some inflammatory comorbidities diseases. • To the best of our knowledge, this is the largest cohort evlauated pediatric FMF associated inflammatory comorbidities diseases reviewed to date

Background/aim: Chronic nonbacterial osteomyelitis (CNO) is a rare disease of unknown etiology and most commonly occurs during childhood or adolescence. The purpose of this study is to collect data on the clinical features, outcomes, and management of the disease and to identify the factors affecting recurrence. Materials and methods: This is a retrospective multicenter cross-sectional study of pediatric patients diagnosed with CNO. A total of 87 patients with a diagnosis of CNO followed for at least 6 months in 8 pediatric rheumatology centers across the country between January 2010 and December 2021 were included in this study. Results: The study included 87 patients (38 girls, 49 boys; median age: 12.5 years). The median follow-up time was 20 months (IQR: 8.5?40). The median time of diagnostic delay was 9.9 months (IQR: 3?24). Arthralgia and bone pain were the most common presenting symptoms. Multifocal involvement was detected in 86.2% of the cases and a recurrent course was reported in one-third of those included in the study. The most commonly involved bones were the femur and tibia. Vertebrae and clavicles were affected in 19.5% and 20.6% of cases, respectively. The erythrocyte sedimentation rate (ESR) values of 60.9% of the patients were above 20 mm/h and the C-reactive protein values of 44.8% were above 5 mg/L. The remission rate was 13.3% in patients using nonsteroidal antiinflammatory drugs and 75.0% in those using biological drugs. Vertebral and mandibular involvement and high ESR values at the time of diagnosis were associated with recurrence. Conclusion: In this multicenter study, CNO with vertebral and mandibular involvement and high ESR at diagnosis were associated with recurrence.