1. Integrating genetic insights, technological advancements, screening, and personalized pharmacological interventions in childhood obesityRobert Šket, Barbara Slapnik, Primož Kotnik, Klementina Črepinšek, Barbara Čugalj Kern, Tine Tesovnik, Barbara Jenko Bizjan, Blaž Vrhovšek, Žiga Iztok Remec, Maruša Debeljak, Tadej Battelino, Jernej Kovač, 2025, pregledni znanstveni članek Povzetek: Childhood obesity is a significant global health challenge with rising prevalence over the past 50 years, affecting both immediate and long-term health outcomes. The increase in prevalence from 0.7% to 5.6% in girls and 0.9% to 7.8% in boys highlights the urgency of addressing this epidemic. By 2025, it is estimated that 206 million children and adolescents aged 5–19 years will be living with obesity. This review explores the complex interplay of genomics and genetics in pediatric obesity, transitioning from monogenic and polygenic obesity to epigenetics, and incorporating advancements in omics technologies. The evolutionary purpose of adiposity, systemic evaluation of hyperphagia, and the role of various genetic factors are discussed. Technological advancements in genotyping offer new insights and interventions. The integration of genetic screening into clinical practice for early identification and personalized treatment strategies is emphasized.
Ključne besede: hemophilia, wearable, Florio HAEMO, adherence, patient satisfaction
Objavljeno v DiRROS: 27.11.2025; Ogledov: 105; Prenosov: 59
 Celotno besedilo (1,68 MB)
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2. Sex differences in cholesterol levels among prepubertal childrenJan Kafol, Mia Becker, Barbara Čugalj Kern, Jaka Šikonja, Matej Mlinarič, Katarina Sedej, Matej Kafol, Ana Drole Torkar, Jernej Kovač, Tadej Battelino, Urh Grošelj, 2025, izvirni znanstveni članek Povzetek: Background and aims: Sex differences in cholesterol levels are well documented in adults and adolescents, but limited data exist for prepubertal children. This study aimed to evaluate innate sex differences in total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels among prepubertal children, both in the general population and among those with familial hypercholesterolemia (FH). Methods: This cross-sectional study used data from Slovenia’s Universal FH Screening Program. Two populationbased random samples of children undergoing routine cholesterol screening at age 5 years were included from 2014 (N = 3412) and 2023 (N = 4182). In addition, a referred cohort from the Slovenian Hypercholesterolemia Registry (n = 1160, aged <10 years) who underwent genetic testing was analyzed. Results: In both the 2014 and 2023 cohorts, girls had significantly higher TC levels than boys (median difference: 0.10–0.11 mmol/L; p < 0.05). Among FH-negative children in the Registry, girls had on average 0.14 mmol/L higher TC and 0.13 mmol/L higher LDL-C than boys (both p < 0.05). No sex differences were observed in FHpositive children (p = 0.83 for TC; p = 0.82 for LDL-C). In the overall Registry cohort, after adjusting for FH status, girls had 0.11 mmol/L higher TC and 0.10 mmol/L higher LDL-C (both p < 0.05). Conclusion: Prepubertal girls have modestly higher TC and LDL-C than boys, a difference not observed in prepubertal FH-positive children, suggesting that the presence of a pathogenic FH variant may override innate physiological differences in lipid metabolism. These findings support universal early cholesterol screening and suggest that sex-specific reference values may improve early cardiovascular risk assessment in prepubertal FHnegative children.
Ključne besede: sex differences, prepubertal children, total cholesterol, low-density lipoprotein cholesterol, familial hypercholesterolemia
Objavljeno v DiRROS: 17.11.2025; Ogledov: 122; Prenosov: 58
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