Št. zadetkov: 10
Izvirni znanstveni članek
Oznake:
DFA Alpha 1;atrial fibrillation;coronary artery bypass grafting;heart rate variability;
Background and Objectives: Postoperative atrial fibrillation (AF) is a frequent complication after coronary artery bypass grafting (CABG), and is particularly associated with poor outcomes. Heart rate variability (HRV), a non-invasive marker of autonomic function, has been proposed as a tool to pred ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
anxiety;depression;cardiac rehabilitation;coronary artery disease;myocardial infarction;pulse-wave velocity;endothelial dysfunction;
Background and aims: Coronary artery disease (CAD) is a leading cause of mortality. Depression and anxiety are common in CAD patients and negatively affect quality of life, physical functioning, and adherence to cardiac rehabilitation (CR) programs. This study aimed to identify possible associations ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
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:
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:
Medicinska fakulteta (UL MF)
Quratul Ain,
Jaka Šikonja,
Fouzia Sadiq,
Saeed Shafi,
Jan Kafol,
Tevž Gorjanc,
Urša Šuštar,
Jernej Kovač,
Mohammad Iqbal Khan,
Muhammad Ajmal,
Urh Grošelj,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
cardiovascular disease;cascade screening;consanguineous;familial hypercholesterolemia;homozygous;
Background and aims: Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein cholesterol (LDL-C) levels from birth, significantly increasing the risk of premature cardiac events and mortality. In Pakistan, despite the potential burden of FH, compreh ...
Leto:
2025
Vir:
Medicinska fakulteta (UL MF)
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:
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
Jan Kafol,
Barbara Gnidovec Stražišar,
Ana Drole Torkar,
Matjaž Homan,
Sara Bertok,
Matej Mlinarič,
Jaka Šikonja,
Jernej Kovač,
Mirjana Perković-Benedik,
Tanja Kersnik-Levart,
Mojca Žerjav-Tanšek,
Marina Praprotnik,
Tadej Battelino,
Maruša Debeljak,
Urh Grošelj,
Urh Grošelj
Pregledni znanstveni članek
Oznake:
ARC syndrome;ARCS2;Arthrogryposis–renal dysfunction–cholestasis syndrome;VIPAR;VIPAS39;
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor. Results: We present two related patients from Kosovo, describing the clinical, geneti ...
Leto:
2024
Vir:
Repozitorij Univerze v Ljubljani (RUL)
Urh Grošelj,
Marko Kavčič,
Ana Drole Torkar,
Jan Kafol,
Duško Lainšček,
Roman Jerala,
Matjaž Sever,
Samo Zver,
Gregor Serša,
Maja Čemažar,
Primož Strojan,
Aleš Grošelj,
Mojca Žerjav-Tanšek,
Špela Križanec,
Simona Ivančan,
Tomaž Prelog,
David Gosar,
Jasna Oražem,
Matej Mlinarič,
Sara Bertok,
Jernej Kovač,
Jana Kodrič,
Saba Battelino,
Marko Pokorn,
Alojz Ihan,
Janez Jazbec,
Tadej Battelino,
Damjan Osredkar
Pregledni znanstveni članek
Oznake:
gene therapy;rare genetic diseases;Slovenia;CAR-T cells;cancer;immune gene therapy;
Gene therapy has transitioned from a long-awaited promise to a clinical reality, offering transformative treatments for rare congenital diseases and certain cancers, which have a significant impact on patients’ lives. Current approaches focus on gene replacement therapy, either in vivo or ex vivo, m ...
Leto:
2025
Vir:
Kemijski inštitut (KI)
Mia Becker,
Bernarda Vogrin,
Jan Kafol,
Barbara Čugalj Kern,
Urh Grošelj,
Jernej Završnik,
Matej Mlinarič,
Ana Drole Torkar,
Jaka Šikonja,
Jernej Kovač,
Tadej Battelino,
Zlatko Fras,
Matija Cevc,
Borut Jug,
Barbara Krevel,
Tevž Gorjanc,
Klara Zabkar,
Aljaz Jamnik,
Maruša Debeljak,
Ana Grom,
Tamara Grgic,
Miha Švarc,
Maja Filipič,
Mineja Leban,
Marija Kjoseva Bakarova,
Mateja Šnajder,
Alenka Koren,
Mojca Mir Toplak,
Mojca Ivankovič Kacjan,
Mario Kulaš,
Benjamina Trtnik,
Saša Korez,
Nina Hebar,
Bernarda Vogel,
Vesna Amon Prodnik,
Lidija Pretnar,
Janja Schweiger Nemanič
Izvirni znanstveni članek
Oznake:
hypercholesterolemia;universal screening;preschoolers;total cholesterol;genetic testing;
Familial hypercholesterolemia (FH) is the most common metabolic disease, with prevalence estimated between 1:250 and 1:300. The affected individuals have a significantly higher risk for developing atherosclerosis and cardiovascular disease (CVD) compared to non-affected individuals. Early CVD can be ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije