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Št. zadetkov: 3
Vpliv samomora pacienta na zdravstvene delavce
Tjaša Šuštar, Aljoša Lapanja, Darja Thaler
Diplomsko delo
Oznake: diplomska dela;zdravstvena nega;samomor;obravnava;vpliv;postvencija;
Uvod: Samomor je eden izmed vodilnih vzrokov smrti po vsem svetu. Obravnava oseb s samomorilnim vedenjem strokovnjakom pogosto predstavlja velik izziv in od njih zahteva posebna znanja in spretnosti. Gre za enega najtežjih dogodkov, ki so jim zdravstveni delavci lahko priča tekom svoje poklicne kari ...
Leto: 2023 Vir: Zdravstvena fakulteta (UL ZF)
Correlation between the serum concentration of vitamin A and disease severity in patients carrying p.G90D in RHO, the most frequent gene associated with dominant retinitis pigmentosa
Tjaša Krašovec, Nina Kobal, Maja Šuštar, Marija Volk, Marko Hawlina, Ana Fakin, Ana Fakin
Izvirni znanstveni članek
Oznake: retinitis pigmentosa;RP;vitamin A;CSNB;NBWD;congenital stationary night blindness;rhodopsin;RHO;sector RP;treatment;
The pathogenic variant p.G90D in RHO is believed to be responsible for a spectrum of phenotypes, including congenital stationary blindness (for the purpose of this study termed night blindness without degeneration; NBWD), Sector RP, Pericentral RP, and Classic RP. We present a correlation between th ...
Leto: 2023 Vir: Medicinska fakulteta (UL MF)
ǂThe ǂclinical spectrum and disease course of DRAM2 retinopathy
Tjaša Krašovec, Marija Volk, Maja Šuštar, Marko Hawlina, Nataša Vidovič-Valentinčič, Ana Fakin, Ana Fakin
Izvirni znanstveni članek
Oznake: DRAM2;inherited retinal dystrophy;genetic spectrum;phenotype variability;genotype– phenotype correlation;fundus autofluorescence imaging;electrophysiology;
Pathogenic variants in DNA-damage regulated autophagy modulator 2 gene (DRAM2) cause a rare autosomal recessive retinal dystrophy and its disease course is not well understood. We present two Slovenian patients harboring a novel DRAM2 variant and a detailed review of all 23 other patients described ...
Leto: 2022 Vir: Medicinska fakulteta (UL MF)
Št. zadetkov: 3
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