Št. zadetkov: 10
Doktorska disertacija
Oznake:
sečila;prirojene anomalije;ultrazvočna diagnostika;ultrazvočni mikcijski citogram;pediatrija;
Vloga ultrazvočno izmerjene razdalje med sredino sečnega mehurja in ostijem sečevoda v odkrivanju vezikoureternega refluksa pri otrocih
Leto:
2016
Vir:
Medicinska fakulteta (UL MF)
Doktorska disertacija
Oznake:
nefrologija;Bolezni izločal;Disertacije;Okvare ledvic;Pediatrija;Novorojenčki;Prirojene nepravilnosti;Diagnostika;
Izhodišče in namen: Prirojena dilatacija votlega sistema ledvic (angleško »urinary tract dilatation«, UTD) je ena najpogostejših napak, ugotovljenih z rutinsko ultrazvočno (UZ) preiskavo pri plodu. Včasih lahko UTD privede do ledvične okvare, ki je vodilni razlog za kronično ledvično bolezen pri otr ...
Leto:
2021
Vir:
Medicinska fakulteta (UL MF)
Izvirni znanstveni članek
Oznake:
coenzyme Q10;deficiency;supplementation therapy;end-stage kidney disease;ESKD;genetic kidney disease;hereditary;kidney survival;outcome;proteinuria reduction;
Primary Coenzyme Q10 (CoQ(10)) deficiency is an ultra-rare disorder caused by defects in genes involved in CoQ(10) biosynthesis leading to multidrug-resistant nephrotic syndrome as the hallmark kidney manifestation. Promising early results have been reported anecdotally with oral CoQ(10) supplementa ...
Leto:
2022
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
coenzyme Q10;mitochondria;steroid-resistant nephrotic syndrome;
PPrimary Coenzyme Q10 deficiency is a rare mitochondriopathy with a wide spectrum of organ involvement, including steroid-resistant nephrotic syndrome mainly associated with disease-causing variants in the genes COQ2, COQ6 or COQ8B. We performed a systematic literature review, PodoNet, mitoNET, and ...
Leto:
2022
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Kratki znanstveni prispevek
Oznake:
spinalna mišična atrofija;trombotična mikroangiopatija;gensko zdravljenje;spinal muscular atrophy;gene replacement therapy;onasemnogene abeparvovec;thrombotic microangiopathy;eculizumab;
Introduction: Onasemnogene abeparvovec is one of the three disease-modifying therapies available that can significantly improve the outcome of patients with 5q-spinal muscular atrophy. Therapy-induced thrombotic microangiopathy is an ultra-rare, but potentially life-threatening condition of not yet ...
Leto:
2025
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
hyperoxaluria;infantile;juvenile;transplantation;outcome;
Introduction: Combined or sequential liver and kidney transplantation (CLKT/SLKT) restores kidney function and corrects the underlying metabolic defect in children with end-stage kidney disease in primary hyperoxaluria type 1 (PH1). However, data on long-term outcome, especially in children with inf ...
Leto:
2023
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
antibiotic prophylaxis;antimeningococcal protection;antimeningococcal vaccination;atypical hemolytic uremic syndrome;complement inhibitors;meningococcal infection;
Introduction: C5 inhibitor (C5i) therapy markedly increases susceptibility to invasive meningococcal disease (IMD) by blocking the terminal complement pathway essential for defense against Neisseria meningitidis. Vaccination is recommended for all recipients, yet breakthrough infections persist. Ant ...
Leto:
2026
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
European child healthcare services;nephrology;achievements;needs;workforce;prevention;rehabilitation;
Background: There is a lack of information on the current healthcare systems for children with kidney diseases across Europe. The aim of this study was to explore the different national approaches to the organization and delivery of pediatric nephrology services within Europe. Methods: In 2020, the ...
Leto:
2024
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Izvirni znanstveni članek
Oznake:
pediatric nephrology;healthcare services;referral clinical pathways;urinary tract infections;nephrotic syndrome;acute kidney injury;
Background: Primary, secondary and tertiary healthcare services in Europe create complex networks covering pediatric subspecialties, sociology, economics and politics. Two surveys of the European Society for Paediatric Nephrology (ESPN) in 1998 and 2017 revealed substantial disparities of kidney car ...
Leto:
2024
Vir:
Digitalni repozitorij raziskovalnih organizacij Slovenije
Jan Kafol,
Barbara Gnidovec Stražišar,
Ana Drole Torkar,
Matjaž Homan,
Sara Bertok,
Matej Mlinarič,
Jaka Šikonja,
Jernej Kovač,
Mirjana Perković-Benedik,
Tanja Kersnik-Levart,
Mojca Žerjav-Tanšek,
Marina Praprotnik,
Tadej Battelino,
Maruša Debeljak,
Urh Grošelj,
Urh Grošelj
Pregledni znanstveni članek
Oznake:
ARC syndrome;ARCS2;Arthrogryposis–renal dysfunction–cholestasis syndrome;VIPAR;VIPAS39;
Background: Arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome, a rare autosomal recessive disorder, exhibits genetic heterogeneity with the VIPAS39 gene pathological variants being a distinct contributor. Results: We present two related patients from Kosovo, describing the clinical, geneti ...
Leto:
2024
Vir:
Repozitorij Univerze v Ljubljani (RUL)