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Št. zadetkov: 7
Interplay of anxiety, depression, vascular function, and biomarkers in post-myocardial infarction patients
Jan Kafol, Borut Jug, Mojca Božič, Jure Tršan, Daniel Košuta, Marko Novaković
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
Sex differences in cholesterol levels among prepubertal children
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
Prevalence, genetic variants, and clinical implications of hypocholesterolemia in children
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)
Cascade screening of a Pakistani consanguineous familial hypercholesterolemia cohort
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)
Enhanced oral glucose tolerance test for early detection of insulin resistance and metabolic complications in children with obesity
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
Gene therapy of rare diseases as a milestone in medicine
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)
Universal screening for familial hypercholesterolemia in preschool children and their families in Slovenia (FH-FAMILIES)
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
Št. zadetkov: 7
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