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182. First report of Diplodia fraxini and Diplodia subglobosa causing canker and dieback of Fraxinus excelsior in SloveniaBenedetto Teodoro Linaldeddu, Carlo Bregant, Lucio Montecchio, Ana Brglez, Barbara Piškur, Nikica Ogris, 2022, kratki znanstveni prispevek Povzetek: Over the last decades the vitality and productivity of European ash trees in Slovenia has been seriously impacted by the onset of canker and dieback disease symptoms on young and old trees, primarily identified as ash dieback caused by Hymenoscyphus fraxineus. Given the limited information available about the aetiology of this emerging disease, a study was carried out to isolate, identify and characterize the fungal species involved in the observed ash symptoms. Field surveys were conducted in five forest sites where 50 symptomatic branch samples were collected. All samples were inspected and used for fungal isolation. Based on morphology, colony appearance and DNA sequence data of the internal transcribed spacer region (ITS), 125 fungal colonies belonging to five species were isolated and identified. Only a few symptomatic ash samples yielded colonies of H. fraxineus, whereas Botryosphaeriaceae species were isolated with a high frequency, with Diplodia fraxini as the dominant species. A pathogenicity test proved that all isolated species were pathogenic on European ash, causing bark lesions and wood discoloration. All Botryosphaeriaceae species isolated in this study are reported for the first time on European ash in Slovenia. Ključne besede: emerging disease, invasive species, Botryosphaeriaceae, pathogenicity Objavljeno v DiRROS: 15.09.2022; Ogledov: 464; Prenosov: 191 Celotno besedilo (851,52 KB) Gradivo ima več datotek! Več... |
183. Smernice za zdravljenje bolnikov z rakom požiralnika in ezofagogastričnega stika (EGS)Franc Anderluh, Marko Boc, Goran Gačevski, Gorana Gašljević, Samo Horvat, Nežka Hribernik, Marija Ignjatović, Ana Jeromen, Jera Jeruc, Peter Korošec, Tanja Mesti, Srdjan Novaković, Irena Oblak, Janja Ocvirk, Martina Reberšek, Nada Rotovnik-Kozjek, Matevž Srpčič, Ajra Šečerov Ermenc, Borut Štabuc, Vaneja Velenik, Neva Volk, Vesna Zadnik, 2022, slovar, enciklopedija, leksikon, priročnik, atlas, zemljevid Ključne besede: rak požiralnika, rak ezofagogastritičnega stika, smernice, zdravljenje Objavljeno v DiRROS: 07.09.2022; Ogledov: 706; Prenosov: 270 Celotno besedilo (3,50 MB) Gradivo ima več datotek! Več... |
184. Identification of spliceogenic variants beyond canonical GT-AG splice sites in hereditary cancer genesVita Šetrajčič Dragoš, Ksenija Strojnik, Gašper Klančar, Petra Škerl, Vida Stegel, Ana Blatnik, Marta Banjac, Mateja Krajc, Srdjan Novaković, 2022, izvirni znanstveni članek Povzetek: Pathogenic/likely pathogenic variants in susceptibility genes that interrupt RNA splicing are a well-documented mechanism of hereditary cancer syndromes development. However, if RNA studies are not performed, most of the variants beyond the canonical GT-AG splice site are characterized as variants of uncertain significance (VUS). To decrease the VUS burden, we have bioinformatically evaluated all novel VUS detected in 732 consecutive patients tested in the routine genetic counseling process. Twelve VUS that were predicted to cause splicing defects were selected for mRNA analysis. Here, we report a functional characterization of 12 variants located beyond the first two intronic nucleotides using RNAseq in APC, ATM, FH, LZTR1, MSH6, PALB2, RAD51C, and TP53 genes. Based on the analysis of mRNA, we have successfully reclassified 50% of investigated variants. 25% of variants were downgraded to likely benign, whereas 25% were upgraded to likely pathogenic leading to improved clinical management of the patient and the family members. Ključne besede: hereditary cancer, RNA sequencing, spliceogenic Objavljeno v DiRROS: 07.09.2022; Ogledov: 489; Prenosov: 250 Celotno besedilo (778,18 KB) Gradivo ima več datotek! Več... |
185. Real-world data on detection of germline and somatic pathogenic/likely pathogenic variants in BRCA1/2 and other susceptibility genes in ovarian cancer patients using next generation sequencingVida Stegel, Ana Blatnik, Erik Škof, Vita Šetrajčič Dragoš, Mateja Krajc, Brigita Gregorčič, Petra Škerl, Ksenija Strojnik, Gašper Klančar, Marta Banjac, Janez Žgajnar, Maja Ravnik-Oblak, Srdjan Novaković, 2022, izvirni znanstveni članek Povzetek: Detection of germline and somatic pathogenic/likely pathogenic variants (PV/LPV) in BRCA genes is at the moment a prerequisite for use of PARP inhibitors in different treatment settings of different tumors. The aim of our study was to determine the most appropriate testing workflow in epithelial ovarian cancer (EOC) patients using germline and tumor genotyping of BRCA and other hereditary breast and/or ovarian cancer (HBOC) susceptibility genes. Consecutive patients with advanced non-mucinous EOC, who responded to platinum-based chemotherapy, were included in the study. DNA extracted from blood and FFPE tumor tissue were genotyped using NGS panels TruSightCancer/Hereditary and TruSight Tumor 170. Among 170 EOC patients, 21.8% had BRCA germline or somatic PV/LPV, and additionally 6.4% had PV/LPV in other HBOC genes. Sensitivity of tumor genotyping for detection of germline PV/LPV was 96.2% for BRCA genes and 93.3% for HBOC genes. With germline genotyping-only strategy, 58.8% of HBOC PV/LPV and 68.4% of BRCA PV/LPV were detected. By tumor genotyping-only strategy, 96.1% of HBOC PV/LPV and 97.4% of BRCA PV/LPV were detected. Genotyping of tumor first, followed by germline genotyping seems to be a reasonable approach for detection of PV/LPV in breast and/or ovarian cancer susceptibility genes in non-mucinous EOC patients. Ključne besede: BRCA, ovarian cancer, tumor genotyping, HBOC Objavljeno v DiRROS: 06.09.2022; Ogledov: 530; Prenosov: 283 Celotno besedilo (2,35 MB) Gradivo ima več datotek! Več... |
186. Cancer patients’ survival according to socioeconomic environment in a high-income country with universal health coverageVesna Zadnik, Tina Žagar, Sonja Tomšič, Ana Mihor, Katarina Lokar, 2022, izvirni znanstveni članek Povzetek: Despite having an established systematic approach to population survival estimation in Slovenia, the influence of socioeconomic environment on cancer patients’ survival has not yet been evaluated. Thus, the main aim of our study was to quantify the potential impact of socioeconomic environment on cancer patients’ survival in our population in the 21st century. The net survival was calculated and stratified into quintiles of Slovenian version of the European Deprivation Index for all adult cancer patients diagnosed between 2004 and 2018 using the national cancer registry data. After accounting for basic demographic variables (age and gender), differences in stage at diagnosis, as well as the impact of the cancer treatment improvements over time, we found that cancer patients in Slovenia with lower socioeconomic status experience worse survival and have higher mortality. In particular, the odds of dying from oral, stomach, colorectal, liver, pancreatic, lung, breast, ovarian, corpus uteri, prostate, and bladder cancers, as well as for melanoma, leukemia, and non-Hodgkin lymphoma, are significantly higher in the socioeconomically most deprived group of patients compared to the most affluent group. The inequalities in cancer burden we found could help decision-makers to better understand the magnitude of this problem. Ključne besede: cancer, population-survival, socioeconomic deprivation, cancer registry Objavljeno v DiRROS: 06.09.2022; Ogledov: 447; Prenosov: 250 Celotno besedilo (1,06 MB) Gradivo ima več datotek! Več... |
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188. Poročilo o preskusu št.: LVG 2022-083 : vzorec št. 2022/00417Ana Brglez, Špela Jagodic, Zina Devetak, Barbara Piškur, 2022, izvedensko mnenje, arbitražna odločba Ključne besede: varstvo gozdov, morfološke analize, bor, Dothistroma, Lecanosticta, rjavenje borovih iglic, rdeča pegavost borovih iglic Objavljeno v DiRROS: 01.09.2022; Ogledov: 425; Prenosov: 0 |
189. Poročilo o preskusu št.: LVG 2022-076 : vzorec št. 2022/00308Barbara Piškur, Ana Brglez, Špela Jagodic, Nikica Ogris, 2022, izvedensko mnenje, arbitražna odločba Ključne besede: varstvo gozdov, morfološke analize, navadna smreka, Picea abies, Macrophomina phaseolina, traheomikoza, venenje sadik iglavcev, polifag Objavljeno v DiRROS: 22.08.2022; Ogledov: 517; Prenosov: 0 |
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