Št. zadetkov: 46
Pregledni znanstveni članek
Oznake:
newborn screenin;NBS;genomic NBS;rare diseases;public health;personalized medicine;
Background: Newborn screening (NBS) has long been a cornerstone of public health, initially designed to detect a few congenital disorders such as phenylketonuria and congenital hypothyroidism. This early intervention prevents irreversible health consequences. With the advent of genomic technologies, ...
Leto:
2026
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Doktorska disertacija
Oznake:
Hiperholesterolemija;Holesterol;Dislipidemija;Pediatrična populacija;Genetski vzroki za hiperholesterolemijo;Sekvenciranje naslednje generacije;Poligenska hiperholesterolemia;
Uvod: V Sloveniji večina ljudi, ki trpijo za dedno obliko hiperholesterolemije, ni diagnosticirana niti ustrezno zdravljena. Zato je pomembno, da poznamo možne genetske vzroke in da vzpostavimo strategijo za zgodnje odkrivanje družinske hiperholesterolemije (DH) in drugih bolezni, ki se kažejo s pov ...
Leto:
2023
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)
Pregledni znanstveni članek
Oznake:
hypoplastic left heart syndrome;congenital heart defect;prenatal diagnosis;neonatal care;palliative surgery;medical ethic;multidisciplinary care;decision making;
Background: Hypoplastic left heart syndrome (HLHS) was a fatal congenital heart defect (CHD) until the 1980s. Introduction of the Norwood procedure and subsequent Fontan operation significantly improved survival by creating a single-ventricle circulation. Due to the high mortality associated with th ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
ethics;end-of-life care;treatment limitation;primary care;family medicine;emergency medicine;systematic review;
Background Decisions to limit treatment near the end of life are challenging and common in primary healthcare, especially in family and emergency medicine. Objectives This review aimed to [1] examine the evidence on the decision-making process regarding treatment limitation in end-of-life care in fa ...
Leto:
2025
Vir:
Repozitorij Univerze v Ljubljani (RUL)
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)
Pregledni znanstveni članek
Oznake:
spol;tveganje za srčnožilna obolenja;sladkorna bolezen tipa 1;otroci;mladostniki;krvni tlak;hiperglikemija;dislipidemija;kajenje;infekcijske bolezni;
Cardiovascular disease (CVD) is the primary cause of higher and earlier morbidity and mortality in people with type 1 diabetes (T1D) compared to people without diabetes. In addition, women with T1D are at an even higher relative risk for CVD than men. However, the underlying pathophysiology is not w ...
Leto:
2021
Vir:
Medicinska fakulteta (UL MF)
Magistrsko delo
Oznake:
hipoholesterolemija;holesterol;dislipidemija;genetski vzroki hipoholesterolemije;sekvenciranje naslednje generacije;
Dislipidemije povzročajo neravnovesje lipoproteinov v krvi. Njihova zgodnja diagnoza in zdravljenje sta ključnega pomena, saj sta pomemben dejavnik tveganja za razvoj srčno-žilnih bolezni. Primarne hipoholesterolemije so manj raziskana skupina dislipidemij. Zanje so značilne vrednosti celokupnega ho ...
Leto:
2023
Vir:
Biotehniška fakulteta (UL BF)
Jan Kafol,
Jaka Šikonja,
Matej Mlinarič,
Barbara Čugalj Kern,
Mihaela Pricop-Jeckstadt,
Ana Drole Torkar,
Tevž Gorjanc,
Andraž Petek,
Andreja Lakner,
Jernej Kovač,
Tadej Battelino,
Urh Grošelj,
Urh Grošelj
Izvirni znanstveni članek
Oznake:
TSH;low-density lipoprotein cholesterol;familial hypercholesterolemia;LDLR;APOB;subclinical hypothyroidism;
Background and aims Thyroid hormones regulate lipoprotein metabolism—primarily by up-regulating the LDL receptor. Whether TSH relates to LDL-C in hypercholesterolemic children, and whether this depends on familial hypercholesterolemia (FH) status or the underlying defective gene, is uncertain. We ev ...
Leto:
2026
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
redke bolezni;obravnava pacienta;javno zdravje;slovenski zdravstveni sistem;zdravljenje;
Rare diseases (RDs), with distinctive and complex features, pose a serious public health concern and represent a considerable challenge for the Slovenian healthcare system. One of the potential approaches to tackling this problem and treating patients with RDs in a quality and effective manner is to ...
Leto:
2021
Vir:
Medicinska fakulteta (UL MF)