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Background: FMF is the most common autoinflammatory disease. The activation of the pyrin inflammasome is the mainstay of the pathogenesis, which might lead to a specific cell-death mechanism, pyroptosis. Pyroptosis is a programmed inflammatory cell death mediated by gasdermin proteins, featuring cell swelling, membrane rupture, and release of inflammatory contents Aim: In this study we aimed to analyze the cell-death mechanisms in the pathogenesis of FMF attacks. Methods: Twenty-five FMF patients were included, and PFAPA patients (n = 10) and healthy controls (HC, n = 10) served as controls. We collected plasma samples from FMF and PFAPA patients during the attack and the attack-free period. We measured the soluble plasma levels of sFas, sFasL, granzyme A, granzyme B, perforin, granulysin, IL-2, IL-4, IL-10, IL-6, IL-17A, TNF-α, and IFN-γ by commercial pre-defined cytometric bead array kits. Results: There was no significant difference between groups in terms of sex and age between FMF patients and HCs, but PFAPA patients were younger than other groups due to the nature of the disease. We then analyzed the components of apoptosis and pyroptosis. The levels of sFasL (p = 0.035) and granzyme A (p = 0.038) in FMF patients were significantly increased during the attack period and decreased to levels comparable to HCs during the attack-free period. This increase was not seen in the PFAPA patients, with comparable levels with the HC group both during attack period and attack-free period. During the attack period of FMF patients, granzyme B (p = 0.145) and perforin (p = 0.203) levels were also increased; however, the differences were not statistically significant. The levels of sFasL, granzyme A, granzyme B, and perforin were closely correlated with each other during the attack period of FMF patients. Conclusions: Our study on death pathways during an FMF attack, suggests an upregulation in both pyroptosis through the granzyme-gasdermin pathway and apoptosis with the increased FasL and perforin levels, which was different from PFAPA patients. These findings might shed light on the reason for the nature of self-limited attacks, but further studies are needed to prove this hypothesis. [ABSTRACT FROM AUTHOR]

Objectives: We aimed to outline the demographic data, clinical spectrum, and treatment approach of sarcoidosis in a large group of patients and sought to figure out the variations of early-onset (EOS) and late-onset paediatric sarcoidosis (LOS). Methods: The study followed a retrospective-descriptive design, with the analysis of medical records of cases diagnosed as paediatric sarcoidosis. Results: Fifty-two patients were included in the study. The median age at disease onset and follow-up duration were 83 (28.2–119) and 24 (6–48) months, respectively. Ten (19.2%) cases had EOS (before 5th birthday) and 42 (80.7%) cases had LOS. The most common clinical findings at the time of the disease onset were ocular symptoms (40.4%) followed by joint manifestation (25%), dermatological symptoms (13.5%), and features related to multi-organ involvement (11.5%). Anterior uveitis was the most common (55%) one among ocular manifestations. Patients with EOS displayed joint, eye, and dermatological findings more commonly than patients with LOS. The recurrence rate of disease in patients with EOS (5.7%) and LOS (21.1%) were not statistically different (P = .7). Conclusions: Patients with EOS and LOS may present with variable clinical features and studies addressing paediatric sarcoidosis cases in collaboration between disciplines will enhance the awareness of this rare disease among physicians and assist early diagnosis with lesser complications. [ABSTRACT FROM AUTHOR]

Objectives There is no consensus on canakinumab treatment tapering and discontinuation strategies in colchicine-resistant FMF patients. In this study, we aimed to establish a treatment management and discontinuation protocol in paediatric FMF patients treated with canakinumab. Methods Fifty-eight FMF patients treated with canakinumab were included. Since 2020, we have applied a protocol based on our experience whereby canakinumab is administered monthly in the first 6 months, followed by bimonthly for 6 months, and a final period of every 3 months (for 6 months). The patients were divided into two groups: 2012–2019 (group A) and 2020–2022 (group B). Results In group A (n  = 33), the median duration of canakinumab treatment was 2.5 years [interquartile range (IQR) 1.9–3.7]. A total of 25 of 33 patients discontinued canakinumab after a median of 2.1 years (IQR 1.8–3.4). In two patients, canakinumab was restarted because of relapse. In group B (n  = 25), canakinumab was discontinued in 18 patients at the end of 18 months. After a median follow-up of 0.8 years (IQR 0.6–1.1), two patients had a relapse and canakinumab treatment was reinitiated. The remaining 16 patients still have clinically inactive disease and are receiving only colchicine. When we compared the characteristics between groups A and B, there were no significant differences regarding demographics, clinical features, and outcomes. Conclusion This is the largest study in the literature suggesting a protocol for discontinuing canakinumab in paediatric FMF patients. It was possible to discontinue canakinumab successfully in more than half of the patients in 18 months. Thus we suggest that this protocol can be used in paediatric FMF patients. [ABSTRACT FROM AUTHOR]

Objectives: Rice body (RB) formation is an uncommon inflammatory process seen in systemic disorders. In this study, we aimed to assess characteristic features of RBs in pediatric patients. Method: We retrospectively evaluated pediatric patients who underwent joint/extremity magnetic resonance imaging. A systematic literature review was conducted for articles including children with RBs. Results: We found 24 patients (median age 6.1 years; F/M = 2.4) with RBs [23 with juvenile idiopathic arthritis (JIA) and one with arthralgia]. The most prevalent location for RBs was the knee joint (75%). RBs were most frequently seen as diffuse multiple millimetric structures. In three out of five patients with follow-up magnetic resonance imaging, resolution or regression of RBs was observed without surgical intervention. Our literature search identified 13 pediatric patients with RBs. Most (84.6%) had JIA, and the knee joint (71.4%) was the most commonly affected joint. Surgery was preferred in our 3 patients (12.5%) and 10 literature patients (83.3%) in the treatment. Conclusion: Our results showed that RBs were most commonly detected in the knee joint, and most cases were secondary to JIA. Although surgery is used as a treatment option, we observed that RBs can occasionally disappear during follow-up without surgical intervention. [ABSTRACT FROM AUTHOR]

Cogan's syndrome (CS) is a rare inflammatory disease characterized by interstitial keratitis or uveitis, vestibular impairment, and progressive hearing loss, commonly bilateral. Although glucocorticoids are fundamental treatment options, in most cases, hearing loss gradually worsens. Herein we report 2 pediatric cases of CS who were treated with corticosteroids and methotrexate. One patient had a cochlear implant, and the hearing of the other patient improved with treatment. Also, a systematic literature review was conducted for articles including pediatric CS patients. In the literature, 34 articles describing 44 pediatric patients with CS were identified. Sudden hearing loss (95.3%) and ocular symptoms (92.5%) were the most common manifestations in these patients. Also, aortic involvement was present in 19.5% of patients in the literature. Otorhinolaryngologists, ophthalmologists, and pediatricians should collaborate to diagnose and manage CS to prevent progressive hearing loss and eye involvement. [ABSTRACT FROM AUTHOR]

Aims: To examine physical functions, activity, and participation level, and associated factors with participation in children with juvenile idiopathic arthritis (JIA) across the International Classification of Functioning Disability and Health-Children and Youth., Methods: 49 children (Girl/Boy:28/21) aged between 7 and 18 years (Mean: 13.4 ± 3.3) were included. To evaluate body structure/functioning; pain, fatigue, disease activity, and motor functions were assessed. Childhood Health Assessment Questionnaire and Juvenile Arthritis Biopsychosocial and Clinical Questionnaire were used to determine activity level. Child and Adolescent Scale of Participation was used to assess participation., Results: Mild level of pain (2.0 ± 2.3), disease activity (2.0 ± 2.3), and fatigue (4.1 ± 4.0) were recorded. Decrease in motor functions was determined in 75% of children, while 61% of whom had activity-related disability. There was mild to moderate participation restrictions, and participation was significantly associated with age ( r  = -0.29), pain severity ( r  = -0.31), disease activity ( r  = -0.39), motor functions ( r  = 0.33), and activity level ( r  = -0.43), ( p  ˂ 0.05)., Conclusions: Majority of children with JIA have deteriorations in physical functions, activity, and participation. Age, pain, disease activity, motor functions and activity level were associated with participation level. Children with JIA should be regularly evaluated multi-directional and they should be referred to rehabilitation programs to increase functionality and participation.

Objectives: Familial Mediterranean fever (FMF) is characterized by febrile polyserositis attacks. Menstruation could be a trigger for attacks. We aimed to analyze the features of adolescent FMF patients with menstruation-associated attacks and propose a management algorithm., Methods: All female FMF patients who had menarche and visited the Pediatric Rheumatology Unit between January-December 2022, were included into this study. Demographics, general characteristics, and the features of menstrual cycle and FMF attacks were noted., Results: A total of 151 female FMF patients were included. Thirty-five (23.2%) had menstruation-associated attacks. Fever and arthritis were less frequent during the menstruation-associated attacks than the attacks not associated with menstruation in these patients (65.7% vs 88.6%, p= 0.01 and 2.9% vs 20%, p= 0.04; respectively). Patients with menstruation-associated FMF attacks were younger at symptom onset and diagnosis (2.5 vs 5 years, p= 0.004 and 4 vs 7 years, p= 0.01; respectively), had a higher rate of dysmenorrhea (74.3% vs 38.8%, p< 0.001, respectively) and higher pre- and post-menarche attack frequency (4 vs 2 and 10 vs 0, respectively; p< 0.001 for both) than patients whose attacks were not associated with menstruation. The interventions for menstruation-associated attacks included initiating colchicine, increasing the dose of colchicine, switching from coated to compressed colchicine tablets or anti-interleukin 1 drugs, and on-demand non-steroidal anti-inflammatory drugs, on-demand glucocorticoids, and on-demand anakinra. On-demand therapies were beneficial in controlling menstruation-associated attacks., Conclusions: This is the largest cohort of adolescent FMF patients with menstruation-associated attacks. Severe FMF may cause tendency to this association. On-demand therapies could be preferred in the management., (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology.)

Objectives: The transition of adolescents and young adults (AYAs) from pediatric to adult-oriented healthcare may be affected by many factors, including the personal and cultural settings. We aimed to analyze the transition readiness and the factors affecting the transition success in rheumatology., Methods: Patients older than 12 years were included in this prospective study. All filled out the Transition Readiness Assessment Questionnaire (TRAQ) 5.0. AYAs were phone-interviewed after their transfer to adult-oriented healthcare. Drug adherence was evaluated with 4-item Morisky Medication Adherence Scale (MMAS-4). AYAs rated their transitional care experience with visual analogue scale (VAS 0-10; 0, the worst; 10, the best)., Results: A total of 504 TRAQs were filled out by 406 patients (F/M = 1.5). The total TRAQ score was positively correlated with age and higher in the forms filled out by girls than boys (4.2 vs 4.0, respectively; p= 0.005). The transition was successful for 78 (83.9%) out of 93 patients transferred to adult-oriented healthcare. The VAS for the transition process was lower and the post-transfer MMAS-4 score was worse (8 vs 9, p= 0.030 and 3 vs 4, p= 0.020; respectively) in patients whose transition was not successful when compared with the successfully-transitioned ones. The best-performing TRAQ cut-off value was >4.0 for predicting transfer readiness in rheumatology., Conclusion: A TRAQ score of > 4 could be used while deciding about the transfer readiness of AYAs in rheumatology. Improving the AYAs' experience of the transition process and closely monitoring medication adherence during transition are essential for a successful transition., (© The Author(s) 2024. Published by Oxford University Press on behalf of the British Society for Rheumatology.)