1. Genomic landscape of susceptibility to severe Covid-19 in the Slovenian populationAnja Kovanda, Tadeja Lukežič, Aleš Maver, Hana Vokač Križaj, Mojca Čižek-Sajko, Julij Šelb, Matija Rijavec, Barbara Bitežnik, Boštjan Rituper, Peter Korošec, Borut Peterlin, 2024, original scientific article Abstract: Determining the genetic contribution of susceptibility to severe SARS-CoV-2 infection outcomes is important for public health measures and individualized treatment. Through intense research on this topic, several hundred genes have been implicated as possibly contributing to the severe infection phenotype(s); however, the findings are complex and appear to be population- dependent. We aimed to determine the contribution of human rare genetic variants associated with a severe outcome of SARS-CoV-2 infections and their burden in the Slovenian population. A panel of 517 genes associated with severe SARS-CoV-2 infection were obtained by combining an extensive review of the literature, target genes identified by the COVID-19 Host Genetic Initiative, and the curated Research COVID-19 associated genes from PanelApp, England Genomics. Whole genome sequencing was performed using PCR-free WGS on DNA from 60 patients hospitalized due to severe COVID-19 disease, and the identified rare genomic variants were analyzed and classified according to the ACMG criteria. Background prevalence in the general Slovenian population was determined by comparison with sequencing data from 8025 individuals included in the Slovenian genomic database (SGDB). Results show that several rare pathogenic/likely pathogenic genomic variants in genes CFTR, MASP2, MEFV, TNFRSF13B, and RNASEL likely contribute to the severe infection outcomes in our patient cohort. These results represent an insight into the Slovenian genomic diversity associated with a severe COVID-19 outcome.
Keywords: severe COVID-19, severe outcome of SARS-CoV-2 infection, whole-genome sequencing, genetic susceptibility, rare variants, human rare genomic variants
Published in DiRROS: 11.06.2026; Views: 370; Downloads: 272
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3. Translational research on polygenic risk scores in common neurodegenerative diseases - a scoping review protocolMojca Čižek-Sajko, Jana Suklan, Džanan Osmanović, Borut Peterlin, 2024, original scientific article Abstract: Objective: The purpose of this protocol is to clearly describe the process for the scoping review we plan to conduct on the topic of polygenic risk scores (PRS) in common neurodegenerative diseases. We will present the review's objective, the strategy for evidence search, the data extraction and analysis procedure, and how the results will be presented. Methods: The inclusion criteria for the planned scoping review will focus on evidence sources that involve PRS applied to neurogenerative diseases such as Multiple sclerosis, Parkinson's disease, Alzheimer's disease, and Amyotrophic lateral sclerosis in any phase of translational research, from early development to clinical implementation. This includes its use in risk prediction, early diagnosis, prognosis, and treatment decision-making. The research questions were created based on the population, context, and concept framework. We will consider both peer-reviewed papers and grey literature published in English or German for inclusion. Two independent reviewers will search for information. Concluison: The findings from the scoping review will be presented descriptively and summarized according to the research questions to illustrate the current status of translational research on PRS in common neurodegenerative diseases.
Keywords: evidence gaps, genetic risk score, nervous system diseases
Published in DiRROS: 03.06.2026; Views: 238; Downloads: 163
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4. Microbial diversity in drug-naïve Parkinson’s disease patientsEliša Papić, Valentino Rački, Mario Hero, Ana Nyasha Zimani, Mojca Čižek-Sajko, Gloria Rožmarić, Nada Starčević-Čizmarević, Saša Ostojić, Miljenko Kapović, Goran Hauser, Aleš Maver, Borut Peterlin, Anja Kovanda, Vladimira Vuletić, 2025, original scientific article Abstract: Parkinson’s disease (PD) is a neurological disorder characterized by rigidity, bradykinesia and tremor. Several genetic and environmental causes of PD are known, and there is emerging evidence of the possible contribution of the gut microbiome to the disease onset, severity, and response to therapy. While previous research has shown several differences in the microbiome of PD patients under therapy as opposed to healthy controls, few prospective studies have included drug-naïve patients. In order to evaluate the gut microbiome composition prior to therapy initiation, we collected and performed 16S rRNA gene sequencing of the stool samples from 49 drug-naïve PD patients and compared them to 34 diet and lifestyle-matched controls from the Croatian population (GiOPARK Project). While no significant alpha diversity difference was observed between the patients and controls, the differential relative abundance analysis showed an increase in Bacteroides fluxus, B. interstinalis, B. eggerthii, and Dielma fastidiosa in the drug-naïve PD patients compared to controls, while Alistipes, Barnesiella and Dialister spp. were decreased in patients compared to controls. Despite preserved overall diversity, these changes may indicate early microbial dysbiosis and represent a foundation for future studies exploring microbiome changes across disease progression and treatment.
Keywords: Parkinson’s disease, neurological disorder, gut microbiome, microbial diversity, microbial dysbiosis
Published in DiRROS: 23.02.2026; Views: 648; Downloads: 305
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5. Digitalizacija Obzornika zdravstvene nege in njegova izposoja v knjižnicah v obdobju 2004-2010Ema Dornik, Mojca Čižek-Sajko, Davor Bračko, 2013, original scientific article Abstract: Uvod: Pojavnost revije v elektronskih medijih prispeva k večji prepoznavnosti in vidnosti stroke. Uredništvo Obzornika zdravstvene nege je v letu 2008 pričelo s projektom digitalizacije časopisa v obsegu celotnih besedil. Zanimalo nas je, ali je projekt digitalizacije vplival na izposojo revije v knjižnicah. Metode: Podatke o izposoji smo zbrali iz lokalnih baz podatkov knjižnic, vključenih v sistem COBISS.SI, ki so v letu 2008 imele naročen vsaj en izvod Obzornika zdravstvene nege. V ožji izbor smo vključili prvi dve po številu izposoj na dom in v čitalnico: Knjižnico Zdravstvene fakultete Univerze v Ljubljani ter Knjižnico Fakultete za zdravstvene vede Univerze v Mariboru. Statistična enota je bilo leto izposoje. Za obdelavo podatkov smo uporabili statistični program SPSS 20.0. Rezultati: V obdobju od 2004 do 2010 smo zabeležili največ izposoj Obzornika zdravstvene nege v knjižnicah: Zdravstvene fakultete (3765), Fakultete za zdravstvene vede (3147), Visoke šole za zdravstveno nego Jesenice (331), Univerzitetne knjižnice Maribor (217)in Centralne medicinske knjižnice (133). V opazovanem obdobju smo v prvihdveh po številu izposoj, ki sta skupaj prispevali kar 91 % izposoj, ugotovili upad izposoje Obzornika zdravstvene nege (6,5 % povprečni letni upad) in Zdravstvenega obzornika (15,2 % povprečni letni upad). V teh dveh knjižnicah smo zabeležili tudi porast izposoje, in sicer v letu 2007: 46,9 % za Obzornik zdravstvene nege in 11,8 % za Zdravstveni obzornik. V ostalih knjižnicah upada izposoje ni zaznati. Diskusija in zaključek: Ugotovili smo trend upadanja izposoje Obzornika zdravstvene nege in Zdravstvenega obzornika,kar je lahko odsev in odraz digitalne dobe. Zavoljo večje branosti, prepoznavnosti in podpore praksi zdravstvene in babiške nege je čas, da Obzornik zdravstvene nege postane prostodostopna e-revija.
Keywords: periodika, digitalna doba, trendi izposoj v knjinžicah
Published in DiRROS: 28.01.2026; Views: 571; Downloads: 0 |
6. Samomori med osebami, zbolelimi za levkemijo v otroštvu, v SlovenijiMojca Čižek-Sajko, Uršula Julija Sajko, Berta Jereb, 2012, review article Abstract: Pri osebah, ki so v otroštvu zbolele za rakom, so pogosto prisotne telesne in psihosocialne posledice bolezni ter njenega zdravljenja. Mnoge raziskave so pokazale, da je pri osebah z izkušnjo raka v otroštvu depresivnost in samomorilno vedenje močneje izraženo. V naši raziskavi smo proučili pojavljanje samomorov pri osebah, ki so v otroštvu zbolele za levkemijo, v primerjavi s splošno populacijo v Sloveniji, v obdobju 1978–2010. Pričakovano število samomorov smo izračunali na osnovi kontrolne skupine posameznikov iz splošne populacije, ki je bila s skupino preiskovancev, tj. oseb, ki so v otroštvu zbolele za levkemijo, izenačena po spolu, starosti ob začetku opazovanja, letu začetka opazovanja in dolžini opazovanja. Raziskava je pokazala, da med tistimi, ki so v otroštvu zboleli za levkemijo, v letih 1978–2010 nobena oseba ni storila samomora, kar se statistično značilno ne razlikuje od pričakovanega števila samomorov (0,448) v primerljivi splošni populaciji v Sloveniji. Ugotovitve raziskave nakazujejo, da kljub znano bolj izraženem samomorilnem vedenju med preživelimi raka v otroštvu v Sloveniji v primerjavi s splošno populacijo pojavljanje samomorov pri osebah, zbolelih za levkemijo v otroštvu, ni pogostejše kot v splošni populaciji.
Keywords: levkemija, preživeli bolniki, samomori
Published in DiRROS: 31.08.2018; Views: 5320; Downloads: 1238
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