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
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2. Enhanced oral glucose tolerance test for early detection of insulin resistance and metabolic complications in children with obesityUrh Grošelj, Jan Kafol, Jaka Šikonja, Matej Mlinarič, Robert Šket, Žiga Iztok Remec, Jernej Kovač, Ana Drole Torkar, Jasna Šuput, Barbka Repič-Lampret, Tadej Battelino, Primož Kotnik, 2025, izvirni znanstveni članek Povzetek: Background and aims: Early detection of insulin resistance (IR) and obesity-related complications is crucial for preventing type 2 diabetes. This study aimed to identify dynamic metabolic biomarkers for more precise early detection of IR and metabolic abnormalities. Methods: This cross-sectional cohort study evaluated IR and metabolic biomarkers in 403 children with obesity (median age 13.18 years, 51.3 % female, 98.5 % with obesity) using an enhanced oral glucose tolerance test (eOGTT). IR was assessed via four indices, with the Matsuda Insulin Sensitivity Index (ISI-M) used as the primary measure. Participants were stratified into quartiles based on ISI-M. Results: Participants with the highest IR (Q1) were older (p = 0.002), had a higher body mass index, were in a more advanced pubertal stage (p < 0.001), and had significantly elevated glucose and insulin levels (p < 0.001 for both) compared to the most insulin sensitive (Q4), with significant differences observed across all quartiles (p < 0.050 for all). Insulin at 120 min demonstrated excellent diagnostic accuracy for IR (AUC=0.958). Triglyceride levels in Q1 showed minimal decline during the eOGTT, while greater declines were observed with increasing insulin sensitivity (p = 0.002 across quartiles), suggesting that a lack of decline in triglycerides may help identify IR. High-sensitivity C-reactive protein levels increased with IR (p = 0.024). Baseline beta-hydroxybutyrate levels were highest in the Q4 and showed the greatest absolute decrease during the eOGTT, compared to Q1 (p < 0.001 for both). Conclusions: We validated established IR markers in children with obesity, while demonstrating that eOGTT may offer improved characterization and earlier identification of those at risk for metabolic complications.
Ključne besede: insulin resistance, oral glucose tolerance test, OGTT, metabolic complications, screening, children, adolescents, obesity
Objavljeno v DiRROS: 11.11.2025; Ogledov: 185; Prenosov: 73
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3. Advances in the management of craniopharyngioma in children and adultsMojca Jensterle Sever, Sončka Jazbinšek, Roman Bošnjak, Mara Popović, Lorna Zadravec-Zaletel, Tina Vipotnik-Vesnaver, Barbara Faganel Kotnik, Primož Kotnik, 2019, pregledni znanstveni članek Povzetek: Childhood and adult-onset craniopharyngioma is a rare embryogenic tumor of the sellar, suprasellar, and parasellar region. Survival rates are high; however, tumor location and treatment sequalae including endocrine deficits, visual impairment, metabolic complications, cognitive and psychosocial deficits can significantly impair patient%s quality of life. There is considerable controversy regarding the optimal management of craniopharyngiomas. Subtotal resection of the tumor followed by targeted irradiation to avoid further hypothalamic damage is currently indicated. Novel insights in the tumor%s molecular pathology present the possibility for targeted therapy possibly decreasing the rate and severity of treatment-associated morbidity. Conclusions. Craniopharyngioma should be seen as a chronic disease. To achieve optimal outcomes a multidisciplinary team of specialized neurosurgeons, neuro-radiologists, neuro-oncologists, pathologists and endocrinologists should be involved in the diagnosis, planning of the surgery, irradiation and long-term follow-up.
Ključne besede: craniopharyngioma, hypopituitarism, metabolic syndrome
Objavljeno v DiRROS: 09.07.2024; Ogledov: 994; Prenosov: 546
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4. Predlog priporočil za celostno rehabilitacijo otrok z možganskim tumorjemLidija Kitanovski, Katja Groleger Sršen, Nataša Kos, Barbara Faganel Kotnik, Primož Kotnik, Ivana Kreft, Lorna Zadravec-Zaletel, Saba Battelino, 2019, objavljeni strokovni prispevek na konferenci (vabljeno predavanje) Ključne besede: pediatrija, onkologija, možganski tumor, otroška onkologija
Objavljeno v DiRROS: 18.09.2019; Ogledov: 3563; Prenosov: 923
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