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1.
Impaired neurodevelopmental genes in Slovenian autistic children elucidate the comorbidity of autism with other developmental disorders
Danijela Krgović, Mario Gorenjak, Nika Rihar, Iva Opalič, Špela Stangler Herodež, Hojka Gregorič Kumperščak, Peter Dovč, Nadja Kokalj-Vokač, 2022, original scientific article

Abstract: Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with genetics playing a significant role in their etiology. Whole exome sequencing (WES) has become predominant in molecular diagnostics for ASD by considerably increasing the diagnostic yield. However, the proportion of undiagnosed patients still remains high due to complex clinical presentation, reduced penetrance, and lack of segregation analysis or clinical information. Thus, reverse phenotyping, where we first identified a possible genetic cause and then determine its clinical relevance, has been shown to be a more efficient approach. WES was performed on 147 Slovenian pediatric patients with suspected ASD. Data analysis was focused on identifying ultrarare or “single event” variants in ASD-associated genes and further expanded to NDD-associated genes. Protein function and gene prioritization were performed on detected clinically relevant variants to determine their role in ASD etiology and phenotype. Reverse phenotyping revealed a pathogenic or likely pathogenic variant in ASD-associated genes in 20.4% of patients, with subsequent segregation analysis indicating that 14 were de novo variants and 1 was presumed compound heterozygous. The diagnostic yield was further increased by 2.7% by the analysis of ultrarare or “single event” variants in all NDD-associated genes. Protein function analysis established that genes in which variants of unknown significance (VUS) were detected were predominantly the cause of intellectual disability (ID), and in most cases, features of ASD as well. Using such an approach, variants in rarely described ASD-associated genes, such as SIN3B, NR4A2, and GRIA1, were detected. By expanding the analysis to include functionally similar NDD genes, variants in KCNK9, GNE, and other genes were identified. These would probably have been missed by classic genotype–phenotype analysis. Our study thus demonstrates that in patients with ASD, analysis of ultrarare or “single event” variants obtained using WES with the inclusion of functionally similar genes and reverse phenotyping obtained a higher diagnostic yield despite limited clinical data. The present study also demonstrates that most of the causative genes in our cohort were involved in the syndromic form of ASD and confirms their comorbidity with other developmental disorders.
Keywords: reverse phenotyping, single event variants, NDD-associated genes, GRIA1 gene, NR4A2 gene, SIN3B gene, autism, child
Published in DKUM: 12.12.2024; Views: 0; Downloads: 3
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2.
Vpliv socialnih omrežij na nakupno vedenje slovenskih milenijcev
Špela Vesna Opalič, 2023, undergraduate thesis

Abstract: Socialna omrežja so povezala ljudi po vsem svetu in jim omogočila lažjo komunikacijo. Postala so izdaten vir informacij, tudi takšnih o izdelkih in storitvah. Uporablja jih že več kot polovica svetovnega prebivalstva, število uporabnikov pa iz dneva v dan narašča. Nič drugače ni v Sloveniji, kjer je ustvarjen profil na vsaj enem izmed socialnih omrežij, po podatkih iz leta 2019, imelo kar 82 % Slovencev, starih med 16 in 74 let. Podjetja želijo biti tam, kjer so porabniki, zato ne čudi, da na socialnih omrežjih narašča tudi število profilov, ustvarjenih s strani podjetij. Tako kot imajo porabniki z ustvarjanjem vsebin o izdelkih in storitvah moč vplivati še na ostale porabnike, skušajo tudi podjetja vplivati na nakupno vedenje porabnikov in jih prepričati v nakup njihovih izdelkov. Z ustreznim nastopom in pravimi promocijskimi aktivnostmi na socialnih omrežjih lahko učinkovito vplivajo na vse stopnje procesa nakupnega odločanja, katerega rezultat je nakup ali nenakup izdelka. Proces odločanja je zaradi tega za tržnike še posebej pomemben, zato ga tudi v tem diplomskem delu podrobneje obravnavamo. Posredovanje informacij na socialnih omrežjih je popularno tudi zato, ker je mogoče zelo natančno določiti ciljno skupino. Če segmentiramo porabnike po starosti, so milenijci tista generacija, ki je glede na raziskave najtesneje povezana s socialnimi omrežji, zato so milenijci predmet raziskave v empiričnem delu in podrobneje predstavljeni v teoretičnem delu. V empiričnem delu sem s pomočjo ankete spraševala slovenske milenijce o vplivu informacij, pridobljenih na socialnih omrežjih, nanje oziroma na njihovo nakupno vedenje. S preverjanjem zastavljenih raziskovalnih vprašanj sem ugotovila, da tovrstne informacije vplivajo na njihovo nakupno vedenje. K nakupu jih najbolj spodbudijo pozitivni komentarji drugih uporabnikov, objavljene slike ter videoposnetki in tudi to, če nek izdelek na socialnih omrežjih postane zelo popularen. Večina pred nakupom pregleda informacije in »reviewe«, kar tudi vpliva na njihovo nakupno odločitev. To je tudi faza v procesu odločanja, v kateri je vpliv socialnih omrežij nanje oziroma na njihovo nakupno vedenje najbolj opazen, prisoten pa je v vseh petih fazah procesa odločanja. Slovenski milenijci se vpliva informacij na njihovo nakupno vedenje tudi dobro zavedajo. Socialno omrežje, ki s svojimi vsebinami najbolj vpliva na nakupno vedenje slovenskih milenijcev, je Facebook.
Keywords: socialna omrežja, milenijci, nakupno vedenje, proces odločanja
Published in DKUM: 16.10.2023; Views: 410; Downloads: 123
.pdf Full text (1,89 MB)

3.
Analiza strategije nastopa podjetja Gorenje na ruskem trgu : diplomsko delo
Stanko Opalič, 2004, undergraduate thesis

Published in DKUM: 28.09.2007; Views: 2119; Downloads: 249
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