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Št. zadetkov: 7
ǂThe ǂimpact of acute hyperglycaemia on the function of cognitive areas in the brain in children with type 1 diabetes mellitus
Jasna Šuput, Magdalena Avbelj
Doktorska disertacija
Oznake: Pediatrija;Disertacije;Sladkorna bolezen;Akutna hiperglikemija;Kognitivne sposobnosti;Prostorski spomin;
POVZETEK 1.8. Uvod Sladkorna bolezen tipa 1 (SB1) je ena najpogostejših kroničnih bolezni otroštva. Slabo urejena sladkorna bolezen vpliva na delovanje možganov. Z raziskavami so ugotovili, da imajo bolniki s SB1 in SB2 med akutno hiperglikemijo nižje dosežke pri govornem in celostnem IQ preizkusu. ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
Endocrine and metabolic complications in a national cohort of Slovene children and adolescents with Duchenne muscular dystrophy
Sončka Jazbinšek, Eva Vrščaj, Jasna Šuput, Tita Butenko, Tanja Loboda, Primož Kotnik, Damjan Osredkar
Izvirni znanstveni članek
Oznake: Duchenne muscular dystrophy;corticosteroid treatment;vamorolone;bone health;linear growth;
Aims: To assess the prevalence of endocrine/metabolic disorders among pediatric Duchenne muscular dystrophy (DMD) patients and identify individuals who would benefit from the new corticosteroid treatment available, vamorolone. Methods: A national pediatric cohort of DMD patients followed at Universi ...
Leto: 2025 Vir: Digitalni repozitorij raziskovalnih organizacij Slovenije
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)
Final adult height in children with central precocious puberty - a retrospective study
Taja Knific, Melisa Lazarevič, Janez Žibert, Nika Obolnar, Nataša Aleksovska, Jasna Šuput, Tadej Battelino, Magdalena Avbelj, Magdalena Avbelj
Izvirni znanstveni članek
Oznake: central precocious puberty,;final adult height;gonadotropin-releasing hormone analog;triptorelin;growth;height prediction;
Background/Aims: Central precocious puberty (CPP) is due to premature activation of the hypothalamic-pituitary-gonadal axis. It predominantly affects girls. CPP leads to lower final height (FH), yet the treatment benefit in girls between 6 and 8 years is equivocal. Our main goal was to evaluate the ...
Leto: 2022 Vir: Zdravstvena fakulteta (UL ZF)
Central TSH dysregulation in a patient with familial non-autoimmune autosomal dominant hyperthyroidism due to a novel thyroid-stimulating hormone receptor disease-causing variant
Jasna Šuput, Maja Jakič, Urh Grošelj, Katarina Trebušak Podkrajšek, Magdalena Avbelj, Mojca Žerjav-Tanšek, Primož Kotnik, Tadej Battelino, Darja Šmigoc Schweiger
Izvirni znanstveni članek
Oznake: familial non-autoimmune autosomal dominant hyperthyroidism;FNAH;TSHR;radioiodine ablation therapy;central hypothyroidism;
Background and Objectives. Familial non-autoimmune autosomal dominant hyperthyroidism (FNAH) is a rare cause of childhood hyperthyroidism. It is caused by the thyroid-stimulating hormone receptor (TSHR) gene variants. So far, only around 40 families with FNAH have been reported. Patients with activa ...
Leto: 2021 Vir: Medicinska fakulteta (UL MF)
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Robert Saho, Vita Dolžan, Mojca Žerjav-Tanšek, Katarina Trebušak Podkrajšek, Jasna Šuput, Sara Bertok, Magdalena Avbelj, Primož Kotnik, Tadej Battelino, Urh Grošelj, Urh Grošelj
Izvirni znanstveni članek
Oznake: congenital adrenal hyperplasia;CAH;CYP21A2;genotype-phenotype;21 hydroxylase deficiency;21-OH deficiency;newborn screening;testicular adrenal rest tumors (TART);
Objective: To analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia. Design and methods: Data were obtained from ...
Leto: 2023 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
Št. zadetkov: 7
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