Št. zadetkov: 30
Pregledni znanstveni članek
Oznake:
familial hypercholesterolemia;polygenic hypercholesterolemia;inflammation;atherosclerosis;carotid intima media thickness;cIMT;C-reactive protein;hsCRP;
Hypercholesterolemia is a major cause of atherosclerosis development and premature cardiovascular disease (CVD). It leads to inflammation, which further accelerates atherosclerosis progression. Familial hypercholesterolemia (FH) is an autosomal dominant disorder characterized by elevated serum LDL-c ...
Leto:
2020
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
autism spectrum disorders;trace elements;ventricular indexes;
Autism spectrum disorder (ASD) belongs to the group of complex developmental disorders. Novel studies have suggested that genetic and environmental factors equally affect the risk of ASD. Identification of environmental factors involved in the development of ASD is therefore crucial for a better und ...
Leto:
2024
Vir:
Repozitorij Univerze v Ljubljani (RUL)
Jan Kafol,
Mia Becker,
Barbara Čugalj Kern,
Jaka Šikonja,
Matej Mlinarič,
Katarina Sedej,
Matej Kafol,
Ana Drole Torkar,
Jernej Kovač,
Tadej Battelino,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
sex differences;prepubertal children;total cholesterol;low-density lipoprotein cholesterol;familial hypercholesterolemia;
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 prepub ...
Leto:
2025
Vir:
Medicinska fakulteta (UL MF)
Fouzia Sadiq,
Saeed Shafi,
Jaka Šikonja,
Madeeha Khan,
Quratul Ain,
Mohammad Iqbal Khan,
Habibur Rehman,
Matej Mlinarič,
Samuel S. Gidding,
Urh Grošelj,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
cardiovascular disease;familial hypercholesterolemia;mapping survey;
Background Familial hypercholesterolemia (FH) is an autosomal inherited disorder characterised by elevated low-density lipoprotein cholesterol and premature cardiovascular events. Despite being declared as a public health priority, FH remains highly underdiagnosed, generally due to the lack of aware ...
Leto:
2023
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Urh Grošelj,
Jan Kafol,
Neža Molk,
Katarina Sedej,
Matej Mlinarič,
Jaka Šikonja,
Urša Šuštar,
Barbara Čugalj Kern,
Jernej Kovač,
Tadej Battelino,
Maruša Debeljak,
Maruša Debeljak
Izvirni znanstveni članek
Oznake:
APOB;children;hypocholesterolemia;next-generation sequencing;prevalence;
Background and aims: In contrast to extensively studied hypercholesterolemia, knowledge of hypocholesterolemia is limited. This study aims to assess the prevalence, clinical characteristics, and genetics of children and adolescents with hypocholesterolemia. Methods: This national prospective cross-s ...
Leto:
2025
Vir:
Repozitorij Univerze v Ljubljani (RUL)
Jaka Šikonja,
Kaja Kobale,
Jan Kafol,
Barbara Čugalj Kern,
Matej Mlinarič,
Ana Drole Torkar,
Jernej Kovač,
Matija Cevc,
Zlatko Fras,
Tadej Battelino,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
child-parent screening;cascade screening;familial hypercholesterolemia;cardiovascular disease;Slovenia;
Background and aims: Cascade familial hypercholesterolemia (FH) screening of parents could reduce the burden cardiovascular disease (CVD) in relatives of index cases by enabling timely diagnosis of FH. Here, we present the positive outcomes of the pilot child-parent cascade screening program in Slov ...
Leto:
2025
Vir:
Medicinska fakulteta (UL MF)
Ana Klinc,
Urh Grošelj,
Matej Mlinarič,
Matjaž Homan,
Gašper Markelj,
Ajda Mezek,
Andreja Širca-Čampa,
Jaka Šikonja,
Tadej Battelino,
Mojca Žerjav-Tanšek,
Ana Drole Torkar
Kratki znanstveni prispevek
Oznake:
glycogen storage disease type 1B;GSD-1b;empagliflozin;SGLT2 inhibitor;neutropenia;
Glycogen storage disease type 1b (GSD-1b) is characterized by neutropenia and neutrophil dysfunction generated by the accumulation of 1,5-anhydroglucitol-6-phosphate in neutrophils. Sodium-glucose co-transporter 2 inhibitors, such as empagliflozin, facilitate the removal of this toxic metabolite and ...
Leto:
2024
Vir:
Medicinska fakulteta (UL MF)
Ajda Skarlovnik,
Tevž Gorjanc,
Jaka Šikonja,
Jan Kafol,
Matej Mlinarič,
Barbara Čugalj Kern,
Ana Drole Torkar,
Jernej Kovač,
Chiara Rodaro,
Tadej Battelino,
Urh Grošelj,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
arterial injury;familial hypercholesterolemia;lipid lower medications;pediatric;preventive medicine;statins;
Background and aims: Individuals with familial hypercholesterolemia (FH) require early lipid-lowering therapy (LLT). We compared rosuvastatin versus ezetimibe treatment and the role of major non-invasive arterial injury markers in children with heterozygous FH.Methods: In this prospective, open-labe ...
Leto:
2026
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Urh 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
Izvirni znanstveni članek
Oznake:
insulin resistance;oral glucose tolerance test;OGTT;metabolic complications;screening;children;adolescents;obesity;
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 coh ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Nika Požun,
Daša Perko,
Violeta Anastasovska,
Tadej Battelino,
Ana Drole Torkar,
Matej Mlinarič,
Žiga Iztok Remec,
Barbka Repič-Lampret,
Domen Trampuž,
Mojca Žerjav-Tanšek,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
newborn screening;NBS;Southeastern Europe;Central Europe;neonatal screening;expanded NBS program;
Newborn screening (NBS) is a well-established public health program that enables early detection and treatment of rare disorders in newborns, preventing severe complications or death. Despite its recognized importance, the scope and implementation of NBS programs vary across Southeastern (SE) and Ce ...
Leto:
2026
Vir:
Medicinska fakulteta (UL MF)