Nergis Akay

Purpose: Rheumatic heart disease remains a major cause of cardiovascular morbidity in children. Although echocardiography is central to diagnosis and staging, it does not directly reflect inflammatory processes that may contribute to ongoing valvular damage. This study aimed to evaluate the association between baseline haematologic parameters and persistent rheumatic heart disease stage in children with prior acute rheumatic fever. Methods: In this single-centre retrospective pilot study, 45 children with persistent rheumatic heart disease were classified as Stage A ( n = 23), Stage B ( n = 14), or Stage C ( n = 8) according to the 2023 World Heart Federation echocardiographic staging framework. Baseline laboratory values obtained during acute presentation were analysed. Clinical and laboratory variables were compared across stages using non-parametric tests. Binary logistic regression identified factors associated with advanced disease (Stage B–C vs Stage A). Results: Markers reflecting acute inflammatory activity, including leukocyte counts and derived indices, did not differ significantly among stages. In contrast, red cell distribution width, mean platelet volume, and platelet distribution width differed significantly. In multivariable analysis, red cell distribution width, and mean platelet volume were independently associated with advanced persistent rheumatic heart disease stage, with higher values linked to increased odds of Stage B–C disease. Conclusion: Red cell distribution width and mean platelet volume were associated with advanced stages of persistent paediatric rheumatic heart disease. These widely available haematologic markers may complement echocardiographic assessment. Larger prospective studies are needed to define their clinical utility. Trial registration: Not applicable (retrospective study).

Objective: Childhood cerebrovascular diseases (CVDs) comprise a heterogeneous group of disorders associated with significant neurological morbidity and long-term functional impairment. Despite increasing awareness, epidemiological and outcome data in pediatric populations remain limited. This study aimed to evaluate the demographic characteristics, etiological distribution, clinical presentation, neuroimaging findings, treatment approaches, and long-term outcomes of pediatric patients diagnosed with CVD in a tertiary pediatric neurology center. Methods: This retrospective single-center study included 25 pediatric patients diagnosed with CVD and followed up between 2010 and 2026. Demographic data, clinical findings, etiological factors, neuroimaging characteristics, treatment strategies, and follow-up outcomes were retrospectively reviewed. Functional outcomes were assessed using the Modified Rankin Scale (mRS). Results: The mean age at diagnosis was 8.4 years, and 60% of patients were male. Ischemic stroke was identified in 68% of patients, whereas 32% had hemorrhagic stroke. Hematologic/thrombophilic disorders and vasculopathies represented the most common etiological subgroups. Acute-onset hemiparesis, headache, and seizures were the leading presenting symptoms. Neuroimaging abnormalities were detected in all patients, with multiple lesions observed in 68% and bilateral involvement in 44% of cases. Pediatric intensive care unit admission was significantly more frequent among patients with hemorrhagic stroke (P < .001), and was significantly associated with long-term neurological sequelae development (P = .004). Long-term neurological sequelae were identified in 60% of patients, and post-stroke epilepsy developed in 52%. Mortality was 4%, while the median mRS score at the last follow-up visit was 2. Conclusion: Pediatric CVDs are associated with substantial long-term neurological burden despite relatively low mortality rates. Hemorrhagic events were linked to more severe clinical outcomes and higher intensive care requirements. Early recognition, comprehensive neurovascular imaging, and multidisciplinary long-term follow-up are essential for improving neurological outcomes in affected children. Cite this article as: Sengenc E, Tunc A, Guler S, et al. From acute events to chronic burden: a 16-year single-center experience in pediatric cerebrovascular diseases. Cerrahpaşa Med J 2026, 50, 0098, doi: 10.5152/cjm.2026.26098.

Objective: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome of childhood, and growing evidence links early-life inflammation to neurodevelopment, but whether PFAPA affects attention and behavior at school age is unknown. This study compared parent-reported attention-deficit/hyperactivity disorder (ADHD) symptoms in school-aged children with a preschool PFAPA diagnosis with those of healthy peers and examined associations with PFAPA-related clinical characteristics. Materials and Methods: This cross-sectional study included 96 children (mean age 10.84 Å} 1.64 years) diagnosed with PFAPA during the preschool years and followed at a pediatric rheumatology clinic and 81 healthy controls (10.40 Å} 1.88 years) without chronic disease or tonsillectomy. Attention-deficit/hyperactivity disorder symptoms were assessed with the Revised Conners’ Parent Rating Scale–Short Form (CPRS-R:S). Results: The groups did not differ in age or sex. No significant between-group difference was found on any CPRS-R:S subscale. Within the PFAPA group, an earlier age at symptom onset was weakly but significantly correlated with a higher ADHD Index (ρ = −0.317, P = .002), and this association remained significant after false discovery rate correction (false discovery rate–adjusted P value [pFDR] = 0.048) and multivariable adjustment (β = −0.295, P = .004); subgroup analyses by comorbidity, tonsillectomy, and medication use showed no differences. Conclusion: Children with a preschool diagnosis of PFAPA did not show increased parentreported ADHD symptoms at school age. The weak association with earlier onset warrants cautious interpretation. These findings suggest that the immune–neurodevelopment relationship should be considered in a disease-specific manner, distinguishing PFAPA’s benign, episodic course from chronic autoinflammatory diseases.

Objectives: With advances in genetic testing, monogenic lupus is increasingly recognized, yet disease-specific classification criteria are lacking. We compared all three classification criteria sets in the same monogenic lupus cohort and, for the first time, evaluated their performance across distinct genetic pathways. Methods: This national multicentre study included 88 genetically confirmed monogenic lupus patients from 22 paediatric rheumatology centres across Türkiye. Fulfilment of the AmericanCollege of Rheumatology (ACR)-1997, Systemic Lupus International Collaborating Clinics (SLICC)-2012 and European League Against Rheumatism (EULAR)/ACR-2019 criteria and pathway-based differences in classification performance were assessed. Results: Overall, 74% (n = 65) fulfilled ACR-1997, 70.5% (n = 62) SLICC-2012 and EULAR/ACR-2019 criteria, and 62.5% (n = 55) met all three, whereas 17% (n = 15) met none. Agreement was substantial (κ = 0.63–0.73), with no significant differences between criteria (P > 0.05). Classification performance differed significantly across genetic pathways (P < 0.05), with the highest fulfilment performances in complement deficiencies and the lowest in nucleic acid metabolism and type I interferon pathway defects. Most patients who did not fulfil any classification criteria had nucleic acid metabolism and clearance defects (13/15, 86.7%). Domain-level analyses showed that classification success was mainly driven by mucocutaneous, immunologic and renal domains. Complement and immune-regulation defects showed a more classical lupus phenotype, with most fulfilling all three criteria (78.6%, 22/28 and 77.8%, 14/18), whereas the proportion was lower in type I interferon pathway and nucleic acid metabolism and clearance defects (33.3%, 2/6 and 47.2%, 17/36). No classification criteria were superior within genetic pathways. Conclusion: One-third of genetically confirmed monogenic lupus patients remained unclassified, particularly those with interferon-related and nucleic acid metabolism defects, highlighting pathway-dependent limitations of current classification criteria.

Objectives: To evaluate age-related differences in clinical features, serological profiles, diagnostic approaches, treatment strategies and outcomes among juvenile- and adult-onset dermatomyositis (JDM and AoDM) patients managed at the same tertiary referral centre. Methods: This retrospective cohort included 180 patients with dermatomyositis meeting the 2017 EULAR/ACR classification criteria and followed between 1995 and 2025 at the paediatric and adult rheumatology clinics. Diagnosis before 16 years was classified as JDM. Results: Among 180 patients, 86 had JDM and 94 had AoDM. A bimodal age distribution was observed, with peaks at 6.8 and 45.7 years. 67.8% were female; median follow-up was 5.9 years. Muscle weakness (86.7%) and cutaneous involvement (98.3%) were most common findings. Calcinosis was frequent in JDM (33%) but rare in adults (one case). Both calcinosis and arthritis were significantly associated with JDM (P = 0.007 and P = 0.049). Anti-NXP2 was the leading JDM autoantibody (31.4%, 11/35), whereas anti-synthetase antibodies (34.6%, 9/26) in AoDM. Glucocorticoids were given to both groups; however, steroid-free (40.3% vs 89.6%, P = 0.020) and drug-free remission rates (40.3% vs 16.7%, P = 0.020) were higher in JDM. Malignancy-associated dermatomyositis occurred only in AoDM (n = 25, 26.6%). Age at diagnosis was independently associated with both mortality (OR 1.07 per year, 95% CI: 1.02–1.11) and malignancy (OR 1.05 per year, 95% CI: 1.00–1.10). Conclusion: JDM and AoDM are not merely age-defined variants but display distinct clinical, serological and prognostic profiles. JDM shows calcinosis and better remission and survival, whereas AoDM is strongly associated with malignancy and higher mortality burden, highlighting the need for age‑tailored diagnostic and management strategies.

Objectives: Canakinumab is widely used in colchicine-resistant familial Mediterranean fever (FMF), yet data on interval adjustment strategies and predictors of successful extension remain limited. This study evaluated clinical and inflammatory outcomes across dosing interval groups and identified factors associated with successful interval extension. Methods: This retrospective single-centre study included 60 pediatric patients with colchicine-resistant FMF treated with canakinumab. Patients were stratified into stable interval (group 1, n = 14), successful interval extension (group 2, n = 24) and unsuccessful interval extension (group 3, n = 22). Longitudinal C-reactive protein (CRP) trajectories were analysed using linear mixed-effects models. Clinical outcomes were compared across groups, and predictors of successful interval extension were assessed using multivariable logistic regression with Firth’s penalized method as a sensitivity analysis. Results: Following canakinumab initiation, CRP levels declined rapidly and stabilized after month 3, while the median annual attack rate decreased from 7 (4–12) to 1.1 (0.5–2.1) attacks per patient-year. Inflammatory trajectories did not differ across groups. Despite similar CRP dynamics, complete remission rates differed significantly (57.1%, 45.8% and 27.3% in Groups 1–3, respectively; P = 0.005), and all patients in group 3 experienced attacks. Arthritis at disease onset was independently associated with successful interval extension (OR = 7.14, 95% CI 1.26–40.41, P = 0.026), with consistent direction in Firth analysis (OR = 5.51, 95% CI 1.08–28.23, P = 0.081). Conclusion: Although canakinumab achieves sustained inflammatory suppression, biochemical improvement does not ensure comparable clinical control. Clinical phenotype, particularly arthritis at onset, may guide individualized interval adjustment.

Background/Objectives: Pediatric Takayasu arteritis (PTA) is a rare large-vessel vasculitis with limited data regarding neurological involvement. This study aimed to evaluate neurological manifestations and associated neuroimaging findings in a cohort of children with PTA. Methods: In this retrospective observational study, 22 patients diagnosed with PTA and followed at a tertiary center between January 2000 and April 2025 were included. Neurological symptoms, examination findings, and neuroimaging data were reviewed. Angiographic involvement was classified according to the Numano classification. Results: Neurological involvement was identified in 5 patients (22.7%), including ischemic stroke (n = 3) and hypertensive encephalopathy (n = 2). Neurological symptoms were present in 15 patients (68.2%), with headache being the most common manifestation (54%). Other symptoms included dizziness, paresthesia, visual disturbances, syncope, and seizures. Neuroimaging revealed ischemic lesions in a subset of patients, as well as nonspecific white matter changes. Angiographic evaluation showed a predominance of extensive disease patterns, particularly Type V and Type IV involvement. Conclusions: Neurological manifestations in pediatric Takayasu arteritis are common but often nonspecific. However, severe complications such as stroke and hypertensive encephalopathy may occur and can be the initial presentation. Careful neurological evaluation and the use of neuroimaging are essential for early detection and appropriate management.

Juvenile dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy of childhood, characterized by proximal muscle weakness, pathognomonic cutaneous findings, and multisystem involvement. Over the past decade, significant advances have been made in pathogenesis and treatment of JDM. This review provides a comprehensive update on the etiopathogenesis, clinical features, autoantibody profiles, and treatment of JDM. Type I interferon signaling, vasculopathy, and mitochondrial dysfunction have emerged as interconnected pathogenic mechanisms, and their identification has informed the development of targeted therapeutic strategies. In particular, elucidation of the type I interferon pathway has contributed to disease diagnosis, monitoring of disease activity through interferon-related biomarkers, and the development of novel targeted therapies. Myositis-specific autoantibodies (MSA), detected in approximately 70% of patients, define clinically distinct subgroups; for example, anti-NXP2 is associated with calcinosis, and anti-MDA5 positivity carries a risk of interstitial lung disease. Importantly, MSA subtype influences not only clinical phenotype but also treatment response, underscoring the value of systematic autoantibody testing in guiding therapeutic decisions. A treat-to-target approach and close monitoring of disease activity are recommended. In refractory disease, conventional immunosuppressants and biologic agents are escalated sequentially, with Janus kinase (JAK) inhibitors targeting the type I interferon pathway. More selective interferon blockade with anifrolumab and next-generation B-cell depletion with chimeric antigen receptor T-cell (CAR-T) cell therapy represent emerging options for patients with refractory disease. Calcinosis remains without a standardized treatment procedure, and evidence-based management is limited by the lack of pediatric randomized controlled trials. Prospective, multicenter studies are needed to establish treatment algorithms and improve long-term outcomes in this rare disease. Cite this article as: Aslan E, Kisla Ekinci RM, Torunoglu Z, Akay N, Kasapcopur O. Juvenile dermatomyositis: A review of the literature. ArchRheumatol. Published online July 31, 2026. doi: 10.5152/ArchRheumatol.2026.26552.

Objectives: To assess the effectiveness of canakinumab (CAN) in controlling clinical and laboratory inflammation by achieving complete control of cardinal disease manifestations and full normalization of laboratory inflammatory markers. Methods: Data were obtained from the international AutoInflammatory Disease Alliance (AIDA) network registry, dedicated to monogenic autoinflammatory diseases. The assessment included both retrospective and prospective real-world data. Results: In total, 158 FMF patients treated with CAN were enrolled. Complete clinical-laboratory response was observed in 45.6% of patients at 3 months, 58.6% at 12 months and 55.2% at the last follow-up, after a mean treatment duration of 45 months. Partial response occurred in 16.5%, 12.5% and 16.8% at the same timepoints, respectively. Complete absence of clinical manifestations was observed in more than 80% of patients at each timepoint. Inflammatory markers normalized significantly by the 3-month assessment. The probability of achieving and maintaining complete response and full laboratory control appeared higher in patients reaching these outcomes by 3 months, although it remained substantial in other patients as well. Complete response was associated with a relapsing-remitting disease course and fewer annual attacks. Nearly all patients maintained stable organ damage scores, and therapy discontinuation due to inefficacy was rare (≤6%). Conclusion: CAN is effective in achieving rapid and sustained clinical and laboratory control in FMF, including stringent endpoints of complete response. Early effectiveness may favour better long-term outcomes, but delayed achievement of complete response and full laboratory control is not uncommon. This study confirms CAN as an effective, and durable therapeutic option in FMF.

Objective: The coexistence of psoriasis and juvenile‑onset systemic lupus erythematosus (jSLE) is rare, and data on familial aggregation of psoriasis across pediatric rheumatic diseases are limited. This study evaluated the co-existence of psoriasis in jSLE, its familial clustering, and its association with the jSLE phenotype. Methods: In this single‑center cross‑sectional study, patients with jSLE, familial Mediterranean fever (FMF), and juvenile systemic sclerosis (jSSc) were systematically screened for personal and family histories of psoriasis. Recurrence risk ratios for psoriasis were calculated separately for patients and their relatives within each disease group. Among patients with jSLE, clinical manifestations, laboratory parameters, and disease activity (SLEDAI‑2K) were compared between those with and without personal and/or familial psoriasis. Results: Of 189 patients with pediatric rheumatic diseases included, 94 (49.7%) had jSLE, 73 (38.6%) had FMF, and 22 (11.7%) had jSSc; 69.3% were female, with a higher frequency in jSLE patients (85.1%). Overall, 7,034 individuals (patients and relatives) were systematically screened for psoriasis. Psoriasis was identified in 4 patients (2.1%), all with jSLE (4.3%), and in 25 relatives (0.36%), yielding an overall prevalence of 0.41%. The combined prevalence of psoriasis in jSLE patients and their relatives (0.54%) was significantly higher than in FMF (0.35%) and jSSc (0%) families (p = 0.034). Recurrence risk ratios (λ) for psoriasis in jSLE families were 10.13 for patients and 3.07, 1.16, and 0.67 for first‑, second‑, and third‑degree relatives, respectively; corresponding λ values in FMF families were 0, 1.88, 1.11, and 0.45. Among 94 patients with jSLE, 20 had a personal or family history of psoriasis. However, their clinical signs, laboratory results, and SLEDAI-2K scores showed no significant differences compared with those without a history of psoriasis (p > 0.05). Conclusion: A positive family history of psoriasis is more common in jSLE than in FMF or jSSc, supporting the hypothesis of a shared genetic background between psoriasis and jSLE, but it was not associated with more severe jSLE in this cohort. These findings underscore the importance of routinely assessing familial psoriasis in jSLE and related disorders and warrant confirmation in larger, prospective, population‑based studies.