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Št. zadetkov: 18
Opredelitev genetskih vzrokov hiperholesterolemije ter ugotavljanje povezav s kliničnimi značilnostmi pri otrocih in mladostnikih
Urša Šuštar, Urh Grošelj
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)
High-sensitivity C-reactive protein and carotid intima media thickness as markers of subclinical inflammation and atherosclerosis in pediatric patients with hypercholesterolemia
Lana Blinc, Matej Mlinarič, Tadej Battelino, Urh Grošelj
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)
Sex-related differences in cardiovascular disease risk profile in children and adolescents with type 1 diabetes
Darja Šmigoc Schweiger, Tadej Battelino, Urh Grošelj
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)
Ugotavljanje genetskega ozadja hipoholesterolemije in povezav s kliničnimi značilnostmi pri otrocih in mladostnikih
Neža Molk, Maruša Debeljak, Urh Grošelj, Simon Horvat
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)
Towards a comprehensive strategy for the management of rare diseases in Slovenia
Dalibor Stanimirović, Eva Murko, Tadej Battelino, Urh Grošelj, Mojca Žerjav-Tanšek
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)
Evaluation of body mass index, overweight and obesity status, and cholesterol levels in younger children
Urša Šuštar, Olga Kordonouri, Stefan Arens, Jernej Kovač, Katarina Sedej, Tadej Battelino, Urh Grošelj
Kratki znanstveni prispevek
Oznake: otroci;prekomerna teža;debelost;holesterol;
Leto: 2023 Vir: Medicinska fakulteta (UL MF)
ǂThe ǂfirst nationwide study on facing and solving ethical dilemmas among healthcare professionals in Slovenia
Štefan Grosek, Rok Kučan, Jon Grošelj, Miha Oražem, Urh Grošelj, Vanja Ida Govednik, Jaro Lajovic, Ana Borovečki, Blaž Ivanc
Izvirni znanstveni članek
Oznake: healthcare professionals;ethical dilemmas;healthcare ethics committees;waiting periods for diagnostics;waiting periods for treatment;interpersonal relations;Slovenia;
Background Healthcare professionals (HCPs), patients and families are often faced with ethical dilemmas. The role of healthcare ethics committees (HECs) is to offer support in these situations. Aim The primary objective was to study how often HCPs encounter ethical dilemmas. The secondary objecti ...
Leto: 2020 Vir: Medicinska fakulteta (UL MF)
Round table discussion
Igor Pribac , Gregor Torkar , Gregor Majdič , Aleš Belič , Urh Grošelj , Wendy Jarrett , Manica Černe , Simon Horvat
Video in druga učna gradiva
Oznake: biology;medicine
Leto: 2014 Vir: videolectures.net
Hypercholesterolemia in two siblings with resistance to thyroid hormones due to disease-causing variant in thyroid hormone receptor (THRB) gene
Maja Jakič, Magdalena Avbelj, Katarina Trebušak Podkrajšek, Jasna Šuput, Mojca Žerjav-Tanšek, Tadej Battelino, Urh Grošelj
Izvirni znanstveni članek
Oznake: thyroid;resistance to thyroid hormones;RTHB;hyroid hormone receptor;THRB;hypothyroidism;hypercholesterolemia;
Resistance to thyroid hormone beta (RTHβ) is a syndrome characterized by a reduced response of target tissues to thyroid hormones. In 85% of cases, a pathogenic mutation in the thyroid hormone receptor beta (THRB) gene is found. The clinical picture of RTHβ is very diverse; the most common findings ...
Leto: 2020 Vir: Medicinska fakulteta (UL MF)
Data highlighting effects of Ketogenic diet on cardiomyopathy and hepatopathy in Glycogen storage disease Type IIIA
Tatiana Marusic, Mojca Žerjav-Tanšek, Andreja Širca-Čampa, Ajda Mezek, Pavel Berden, Tadej Battelino, Urh Grošelj
Izvirni znanstveni članek
Oznake: inborn genetic diseases;glycogen storage disease;glycogen storage disease type III;cardiomyopathy;hypertrophic diet;ketogenic;
Datasets highlighting effects of ketogenic diet (KD) in a glycogen storage disease type IIIa patient is presented with the longest patient follow up report to date. Now a 15-year old girl with GSD type IIIa, diagnosed at 1 year of age, had initially introduced treatment with diet high carbohydrates, ...
Leto: 2020 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 18
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