Mariya P. Koltakova

BACKGROUND. Continuous glucose monitoring (CGM) is becoming the standard of care for children with type 1 diabetes (T1D), yet data on its use in children under 4 years old remain limited. FreeStyle Libre 2 (FSL2) is approved for use from the age of 4, but there is a clinical need for use in younger age groups. OBJECTIVE. To evaluate the accuracy and safety of the FSL2 system when used off-label in children aged 1–4 years with T1D. MATERIALS AND METHODS. The study included 20 children with T1D (mean age 2.8±0.7 years, diabetes duration 1.2±0.8 years, HbA1c 7.1±1.4%). Participants consecutively used two FSL2 sensors over a 28-day period. Accuracy was assessed by comparing FSL2 data to reference capillary blood glucose measurements (≥6 times daily). Analyses included mean absolute relative difference (MARD), agreement rates, and distribution across zones of the Parkes consensus error grid. RESULTS. A total of 2,554 paired measurements were analyzed. Overall MARD was 11.5% (95% CI: 10.6–12.3%). Agreement rates: 74.6% of readings were within ±15%/15 mg/dL, and 84.2% within ±20%/20 mg/dL. A total of 99.9% of readings fell within Zones A+B of the consensus error grid. MARD remained stable over the 14-day sensor wear period (11.9%, 11.1%, 11.7% in the initial, middle and final periods of use). The average sensor wear time was 285.7±95.9 hours. No serious adverse events were reported; local skin reactions were mild and resolved fully without any treatment. CONCLUSION. FSL2 demonstrated clinically acceptable accuracy and a high safety profile in children aged 1–4 years with T1D. The findings support potential extension of FSL2 use in this age group to improve glycemic control and family quality of life.

BACKGROUND : Fast-acting insulin aspart has superior pharmacokinetic properties compared to traditional rapid-acting insulin analogs, but data on its real-world clinical effectiveness in children and adolescents are limited AIM : To evaluate the effectiveness of fast-acting insulin aspart compared to rapid-acting insulin analogs in children and adolescents with type 1 diabetes (T1D) under real-world clinical practice conditions. MATERIALS AND METHODS : A cross-sectional study of 2,188 children and adolescents with T1D aged 1–18 years was conducted. Primary outcomes included glycated hemoglobin (HbA1c) level and time in range (TIR, 3.9–10.0 mmol/L). Statistical analysis involved the Mann-Whitney U test for between-group comparisons and multivariate linear regression to assess independent predictors of outcomes. RESULTS : The median age of participants was 12.0 [9.0; 15.0] years, with diabetes duration of 4.3 [2.3; 7.1] years. Multivariate analysis confirmed an independent association of fast-acting insulin with 0.182% lower HbA1c (95% CI: -0.292; -0.071, p=0.001) and 2.663% higher TIR (95% CI: 1.031; 4.294, p=0.001) after adjustment for age, diabetes duration, and insulin delivery method. The most pronounced benefits were observed in adolescents aged 13–18 years and patients with diabetes duration exceeding 7 years. CONCLUSION : Fast-acting insulin aspart demonstrates statistically significant and clinically relevant advantages in glycemic control among children and adolescents with T1D in real-world clinical practice, supporting its broader use in pediatric populations.

Background: Maturity-onset diabetes of the young (MODY) is a heterogeneous group of monogenic diabetes forms that are frequently misclassified as type 1 or type 2 diabetes due to overlapping phenotypic features. The true prevalence of MODY is likely substantially underestimated. As DNA-based diagnostics become increasingly accessible, an expanding number of novel genetic variants are being identified. Objectives: The aim of this study was to characterize the clinical and genetic features of patients carrying rare variants in the BLK, KLF11, PAX4, PDX1, and CEL genes, with attention to population-specific aspects, family history, and treatment outcomes. Methods: Targeted next-generation sequencing (NGS) using a custom-designed panel covering 27 genes implicated in MODY, neonatal diabetes, and related hereditary syndromes was performed on the Illumina NovaSeq 6000 platform (Illumina). Results: We identified 21 variants in five genes associated with rare MODY subtypes among 24 unrelated patients. MODY9 was diagnosed in two unrelated patients of Russian ethnicity harboring an identical heterozygous missense mutation in exon 5 of the PAX4 gene (HG38, chr7:127615049G>A, c.191C>T, p.Thr64Ile), which has not been previously described in patients with diabetes. MODY11 was diagnosed in a patient carrying the c.773-1G>A variant in the BLK gene. A patient with a de novo c.40_41dupGC (p.Val15Glnfs*41) variant in the KLF11 gene was clinically diagnosed with type 1 diabetes. Conclusion: Our findings expand the current understanding of rare MODY subtypes and contribute to the growing body of evidence on the spectrum and frequency of potentially pathogenic variants in BLK, CEL, KLF11, PDX1, and PAX4 genes across ethnically diverse populations worldwide.

Sarcopenic obesity (SO) is characterized by a decrease of lean mass and increase of adipose tissue and is associated with various metabolic disorders in adults. The influence of the body composition on the metabolic profile in obese children remains unclear as yet. The purpose of the research was to assess body composition and metabolic profile in children with sarcopenic obesity Methods used: cross-sectional, single-center study was conducted in Feb. 2020-Jul. 2022 which included 116 children (55 boys, 61 girls) with simple obesity (SDS BMI 2.5 [2.2;2.7]) aged 7 to 17 y/o (average age 14.2 [12.3;15.5] y/o) divided into two groups depending on the presence of sarcopenic obesity. The group with sarcopenic obesity ("SO+") included 56 children (19 boys, 37 girls) with simple obesity (SDS BMI 2.5 [2.2; 2.6]). The control group ("SO-") consisted of 60 children (36 boys, 24 girls) with constitutionally exogenous obesity (SDS BMI 2.5 [2.2; 2.7]) without sarcopenia. Results: children with sarcopenic obesity were characterized by an increase in adipose tissue (39.1% [36.4; 41.9] vs 30.6% [27.6; 32.4]; p<0.0001), decrease in lean mass (55.6 [44.8; 63.7] vs 45.6 [39.5; 49.7] kg; p<0.0001) and skeletal muscle mass decrease (25.0 [19.2; 28.2] vs 19.4 [16.3; 22.4] kg; p<0.0001) - all compared to the "SO-" group. There were no statistically significant differences in the frequency of detection of impaired glucose tolerance (p=0.672), insulin resistance (p=0.871) and non-alcoholic fatty liver disease (p=0.657) in both groups. Conclusion: sarcopenic obesity in children is characterized by a reduction of lean mass and skeletal muscle mass and is not accompanied by changes in the metabolic profile. It makes difficult to stratify metabolic risks in this group of pediatric patients.

Introduction. The issue of the readiness of adolescents with chronic kidney disease (CKD) for the transition to the adult service in the Russian healthcare system remains unexplored. One of the reasons of this problem is the lack of Russian tools for evaluating patient transition readiness.The goal of this study is to develop Russian-language questionnaires to evaluate the readiness of adolescents for the transition to an adult health service based on the English-language originals.Materials and methods. A literature search was carried out to identify English questionnaires, as well as recommendations for their translation and adaptation. Development of the Russian versions of the questionnaires included the following major stages: preparation, two forward translations, their reconciliation, adaptation and creation of an intermediate version, back-translation into English, cognitive interviewing of the adolescents, proofreading and approval of the final version by the authors of the original English questionnaires. Cognitive interviewing was performed with 10 adolescents with CKD aged 15–17 years.Results. Four English questionnaires were identified. They were studied and comparatively analysed. Translated versions of these questionnaires into foreign languages were revealed. Two most promising questionnaires for translation into Russian were identified: UNC TRxANSITION Index and STARx. Russian versions of these questionnaires were developed based on the international recommendations. Cognitive interviewing provided additional adaptation and linguistic validation of the translated versions based on the adolescents’ opinions. UNC TRxANSITION Index is a provider-administered questionnaire and includes 32 questions. STARx is a self-report questionnaire and includes 18 questions.Conclusions. Russian versions of questionnaires for evaluating adolescents’ transition readiness are available for use by health professionals and social workers. A further study of their psychometric properties and confirmation of the validity of their results in the context of the Russian healthcare system is required.