Št. zadetkov: 17
Objavljeni strokovni prispevek na konferenci
Oznake:
človeški papilomavirusi;cepljenje;HPV;Slovenija;študenti medicine;Društvo študentov medicine Slovenije;
Aktivnosti študentov medicine za povečanje precepljenosti proti HPV : primer dobre prakse
Leto:
2019
Vir:
Onkološki inštitut Ljubljana (OI)
Izvirni znanstveni članek
Oznake:
nasopharyngeal swab;collection procedure;sample quality;
A nasopharyngeal swab (NPS) is the most frequently collected sample type when molecular diagnosis of respiratory viruses, including SARS CoV-2, is required. An optimal collection technique would provide sufficient sample quality for the diagnostic process and would minimize the discomfort felt by th ...
Leto:
2023
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
funkcionalni hipogonadizem;debelost;semaglutid;functional hypogonadism;obesity;semaglutide;
Aims To compare the effects of semaglutide and testosterone replacement therapy (TRT) on semen quality and parameters of functional hypogonadism (FH) in men with type 2 diabetes mellitus and obesity. Materials and Methods We designed a randomised open-label trial in 25 men with type 2 diabetes (aged ...
Leto:
2024
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
SARS-CoV-2;nasopharyngeal swab;saliva;
A prospective cohort study was conducted during the Delta and Omicron severe acute respiratory syndrome coronavirus type 2 (SARS-CoV-2) epidemic waves from paired nasopharyngeal swab (NPS or NP swab) and saliva samples taken from 624 participants. The study aimed to assess if any differences among p ...
Leto:
2022
Vir:
Medicinska fakulteta (UL MF)
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)
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)
Quratul Ain,
Matija Cevc,
Tatiana Marusic,
Jaka Šikonja,
Fouzia Sadiq,
Urša Šuštar,
Matej Mlinarič,
Jernej Kovač,
Hijab Batool,
Mohammad Iqbal Khan,
Katarina Trebušak Podkrajšek,
Barbara Jenko,
Tadej Battelino,
Zlatko Fras,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
LPL;case series;hypertriglyceridemia;lipoprotein lipase;lipoprotein lipase deficiency;pancreatitis;
Introduction: Hypertriglyceridemia (HTG) is a complex disorder caused by genetic and environmental factors that frequently results from loss-of-function variants in the gene encoding lipoprotein lipase (LPL). Heterozygous patients have a range of symptoms, while homozygous LPL deficiency presents wi ...
Leto:
2024
Vir:
Medicinska fakulteta (UL MF)
Jaka Šikonja,
Jernej Brecelj,
Mojca Žerjav-Tanšek,
Barbka Repič-Lampret,
Ana Drole Torkar,
Simona Primožič,
Neža Lipovec,
Valentina Stefanova,
Sara Bertok,
Jernej Kovač,
Barbara Faganel,
Markéta Tesařová,
Žiga Iztok Remec,
Maruša Debeljak,
Tadej Battelino,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
pediatrija;tirozenemija;presejalno testiranje;tyrosinemia;fumarylacetoacetate hydrolase;nitisinone;dried blood spot;succinylacetone;intronic variant;
Tyrosinemia type 1 (HT1) is an inborn error of tyrosine catabolism that leads to severe liver, kidney, and neurological dysfunction. Newborn screening (NBS) can enable a timely diagnosis and early initiation of treatment. We presented the follow up of the only two Slovenian patients diagnosed with H ...
Leto:
2022
Vir:
Medicinska fakulteta (UL MF)
Katarina Štajer,
Neja Kovač,
Jaka Šikonja,
Matej Mlinarič,
Sara Bertok,
Jernej Brecelj,
Maruša Debeljak,
Jernej Kovač,
Gašper Markelj,
David Neubauer,
Rina Rus,
Mojca Žerjav-Tanšek,
Ana Drole Torkar,
Aleksandra Zver,
Tadej Battelino,
Rosa Jiménez Torres,
Urh Grošelj
Pregledni znanstveni članek
Oznake:
Phosphoribosylpyrophosphate synthetase 1;PRPS1;PRS-I super-activity;PRS-I deficiency;Arts syndrome;X-linked Charcot-Marie-Tooth neuropathy type 5;
Phosphoribosyl pyrophosphate synthetase 1 (PRS–I) is an enzyme involved in nucleotide metabolism. Pathogenic variants in the PRPS1 are rare and PRS-I deficiency can manifest as three clinical syndromes: X-linked nonsyndromic sensorineural deafness (DFN2), X-linked Charcot-Marie-Tooth neuropathy type ...
Leto:
2023
Vir:
Medicinska fakulteta (UL MF)