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.

Nail-fold Capillaroscopic Changes in Children with Juvenile Dermatomyositis and Specific Autoantibodies - Medical Journal of Bakirkoy

Background/Objectives: The effect of nutritional status on the prognosis of Familial Mediterranean Fever (FMF), a hereditary autoinflammatory illness, is unclear. This research aims to investigate whether nutritional status indicators, such as the Controlling Nutritional Status (CONUT) score and the Prognostic Nutritional Index (PNI), differ in kids with FMF compared to healthy kids. It also aims to investigate the possible relation between these indicators and the types of MEFV gene mutations detected in kids with FMF. Methods: The research included 90 kids with FMF and 90 healthy children as controls. The FMF group was further divided into three subgroups based on MEFV gene mutation status. The PNI and CONUT scores of these groups and subgroups were compared. Results: A difference was found in the distribution of CONUT scores in the FMF group compared to the healthy group. However, there was no difference in the distribution of PNI between the two groups. C-reactive protein, triglyceride, and total cholesterol values were higher in the FMF group than in the control group. A difference was also determined between the two groups in the distribution of total cholesterol scores categorized by CONUT score. A negative correlation was found between this categorized score and the number of symptom days. No significant difference was found in the distribution of PNI and CONUT scores among subgroups based on MEFV gene mutation status. Conclusions: In children with FMF, total cholesterol levels should be routinely monitored longitudinally, even if they remain within reference values, to prevent some complications in adulthood.

Background/Objectives: Familial Mediterranean fever (FMF) is the most common hereditary autoinflammatory syndrome, characterized by recurrent fever attacks and serositis. Galectin-3, a β-galactoside-binding lectin involved in inflammation and fibrosis, and presepsin, an established biomarker for bacterial infection and sepsis, have emerged as potential biomarkers for improving diagnostic and prognostic accuracy in autoinflammatory diseases. However, their use in FMF patients is not sufficiently evaluated. This study aims to compare serum galectin-3 and presepsin levels in children with FMF and healthy controls and assess their correlations with conventional acute-phase reactants. Methods: This prospective cross-sectional study included 74 children with confirmed FMF during attack-free periods and 67 age- and gender-matched healthy controls. Clinical and genetic characteristics, complete blood count, C-reactive protein (CRP), serum amyloid-A (SAA), and erythrocyte sedimentation rate (ESR) were recorded. Serum galectin-3 and presepsin levels were measured. Group comparisons and correlation analyses were performed using appropriate statistical tests. Results: Median serum galectin-3 and presepsin was significantly higher in FMF patients than controls (p < 0.001). ESR was significantly higher in FMF patients (p < 0.001), while CRP and SAA showed no significant differences. Correlation analysis revealed a strong positive correlation between galectin-3 and presepsin (r = 0.860, p < 0.001) in FMF patients, with neither correlating with other acute-phase reactants. Conclusions: Galectin-3 and presepsin were found to serve as novel biomarkers reflecting alternative inflammatory pathways in FMF, even during remission. These results, obtained during the attack-free period, indicate the need for further studies to determine the relationship between galectin-3 and presepsin levels and disease activity in FMF.

Background/Objectives: The pathophysiology of juvenile idiopathic arthritis (JIA), the most widespread rheumatologically illness in juvenile period, is shaped by complex interactions between leukocytes and the cytokines they secrete. The aim of this research was to evaluate the severity of sleep disturbances and depression, which are closely associated with many diseases and can negatively impact the course of the illness, in patients with JIA using Beck Depression Inventory (BDI) and Sleep Disturbance Scale for Children (SDSC) scores and to investigate the relationship between these scores and laboratory findings in patients with JIA. Methods: The research involved 58 children with JIA and 71 healthy children as controls. BDI and SDSC scores of these groups were compared with laboratory findings and correlation analysis were performed. Results: In the JIA group, BDI and SDSC scores, C-reactive protein (CRP), red blood cell distribution width (RDW), erythrocyte sedimentation rate, neutrophil, and leukocyte counts, were higher than in the control group, while vitamin D values were lower. A positive relation was determined between BDI and SDSC scores in the JIA group, but no correlation was found in the control group. In the JIA group, both BDI and SDSC scores were found to be negatively related with leukocyte and neutrophil counts. In the control group, the BDI score was determined to be negatively correlated with CRP, vitamin D and RDW levels. Conclusions: Depression and sleep disorders may interact in patients with JIA, and their causal relationship with leukocyte and neutrophil levels should be investigated.

Background/Objectives: Juvenile idiopathic arthritis (JIA) is a chronic autoimmune disorder characterized by joint inflammation, potentially leading to pulmonary involvement. This study aimed to assess pulmonary function in children with JIA compared to controls and identify potential respiratory abnormalities associated with the disease. Methods: This was a prospective cross-sectional study conducted at the Pediatric Rheumatology, Başakşehir Çam and Sakura City Hospital, İstanbul, Türkiye, between July and October 2024. The study included 70 children with JIA and 60 healthy controls aged 6 to 17. Pulmonary function test parameters, such as forced vital capacity (FVC), forced expiratory volume in the 1st second (FEV1), peak expiratory flow (PEF), and FEV1/FVC ratio, were measured using spirometry. Oxygen saturation (SpO₂) was also measured. Results: There were no significant differences in demographic and clinical characteristics between the JIA and control groups (p > 0.05). FVC and FEV1 values were lower in the JIA group, though not significantly (p = 0.831 and p = 0.711). However, PEF was significantly lower in the JIA group than controls (p = 0.005). Children with moderate or high disease activity had significantly lower FVC, FEV1, and FEF 25–75 than those with low disease activity (p < 0.001). Enthesitis-related arthritis patients had higher FVC and FEV1 than other JIA subtypes (p < 0.05). FVC and FEV1 were positively correlated with BMI (p < 0.001). Conclusions: Although PEF values were significantly lower in children with JIA, overall pulmonary function was comparable between the groups. Regular pulmonary monitoring in JIA patients is recommended for early detection and management of respiratory complications.