1931. Genetic counselling, BRCA1/2 status and clinico-pathologic characteristics of patients with ovarian cancer before 50 years of ageMirjam Cvelbar, Marko Hočevar, Srdjan Novaković, Vida Stegel, Andraž Perhavec, Mateja Krajc, 2017, izvirni znanstveni članek Povzetek: In Slovenia like in other countries, till recently, personal history of epithelial ovarian cancer (EOC) has not been included among indications for genetic counselling. Recent studies reported up to 17% rate of germinal BRCA1/2 mutation (gBRCA1/2m) within the age group under 50 years at diagnosis. The original aim of this study was to invite to the genetic counselling still living patients with EOC under 45 years, to offer gBRCA1/2m testing and to perform analysis of gBRCA1/2m rate and of clinico-pathologic characteristics. Later, we added also the data of previously genetically tested patients with EOC aged 45 to 49 years. Patients and methods. All clinical data have to be interpreted in the light of many changes happened in the field of EOC just in the last few years: new hystology stage classification (FIGO), new hystology types and differentiation grades classification, new therapeutic possibilities (PARP inhibitors available, also in Slovenia) and new guidelines for genetic counselling of EOC patients (National Comprehensive Cancer Network, NCCN), together with next-generation sequencing possibilities. Results. Compliance rate at the invitation was 43.1%. In the group of 27 invited or previously tested patients with EOC diagnosed before the age of 45 years, five gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within the group was 18.5%. There were 4 gBRCA1 and 1 gBRCA2 mutations detected. In the extended group of 42 tested patients with EOC diagnosed before the age of 50 years, 14 gBRCA1/2 mutations were found. The gBRCA1/2m detection rate within this extended, partially selected group was 33.3%. There were 11 gBRCA1 and 3 gBRCA2 mutations detected. Conclusions. The rate of gBRCA1/2 mutation in tested unselected EOC patients under the age of 50 years was higher than 10%, namely 18.5%. Considering also a direct therapeuthic benefit of PARP inhibitors for BRCA positive patients, there is a double reason to offer genetic testing to all EOC patients younger than 50 years. Regarding clinical data, it is important to perform their re-interpretation in everyday clinical practice, because this may influence therapeutic possibilities to be offered.
Ključne besede: ovarian cancer, BRCA 1/2, genetic counseling
Objavljeno v DiRROS: 24.05.2024; Ogledov: 499; Prenosov: 252
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1932. Leiomyosarcoma of the renal vein : analysis of outcome and prognostic factors in the world case series of 67 patientsMarko Novak, Andraž Perhavec, Katherine E. Maturen, Snežana Pavlović Djokić, Simona Jereb, Darja Eržen, 2017, izvirni znanstveni članek Povzetek: Background Leiomyosarcoma is a rare malignant mesenchymal tumour. Some cases of leiomyosarcoma of the renal vein (LRV) have been reported in the literature, but no analysis of data and search for prognostic factors have been done so far. The aim of this review was to describe the LRV, to analyse overall survival (OS), local recurrence free survival (LRFS) and distant metastases free survival (DMFS) in LRV world case series and to identify significant predictors of OS, LRFS and DMFS. Methods Cases from the literature based on PubMed search and a case from our institution were included. Results Sixty-seven patients with a mean age of 56.6 years were identified; 76.1% were women. Mean tumour size was 8.9 cm; in 68.7% located on the left side. Tumour thrombus extended into the inferior vena cava lumen in 13.4%. All patients but one underwent surgery (98.5%). After a median follow up of 24 months, the OS was 79.5%. LRFS was 83.5% after a median follow up of 21.5 months and DMFS was 76.1% after a median follow up of 22 months. Factors predictive of OS in univariate analysis were surgical margins, while factors predictive of LRFS were inferior vena cava luminal extension and grade. No factors predictive of DMFS were identified. In multivariate analysis none of the factors were predictive of OS, LRFS and DMFS. Conclusions Based on the literature review and presented case some conclusions can be made. LRV is usually located in the hilum of the kidney. It should be considered in differential diagnosis of renal and retroperitoneal masses, particularly in women over the age 40, on the left side and in the absence of haematuria. Core needle biopsy should be performed. Patients should be managed by sarcoma multidisciplinary team. LRV should be surgically removed, with negative margins.
Ključne besede: leiomysarcoma, renal vein, surgery, outcomes, prognostic factors
Objavljeno v DiRROS: 24.05.2024; Ogledov: 499; Prenosov: 314
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1933. Cancer burden in Slovenia with the time trends analysisVesna Zadnik, Maja Primic-Žakelj, Katarina Lokar, Katja Jarm, Urška Ivanuš, Tina Žagar, 2017, izvirni znanstveni članek Povzetek: Background The aim of our study was to describe cancer burden and time trends of all cancers combined, the most frequent as well as the rare cancers in Slovenia. Patients and methods The principal data source was the population-based Cancer Registry of Republic of Slovenia. The cancer burden is presented by incidence and prevalence for the period 1950%2013 and by mortality for years 1985%2013. The time trends were characterized in terms of an average annual percent change estimated by the log-linear joinpoint regression. The Dyba-Hakulinen method was used for estimation of incidence in 2016 and the projections of cancer incidence for the year 2025 were calculated applying the Globocan projection software. Results In recent years, near 14,000 Slovenes were diagnosed with cancer per year and just over 6,000 died; more than 94,000 people who were ever diagnosed with cancer are currently living among us. The total burden of cancer is dominated by five most common cancer sites: skin (non-melanoma), colon and rectum, lung, breast and prostate, together representing almost 60% of all new cancer cases. On average the incidence of common cancers in Slovenia is increasing for 3.0% per year in last decade, but the incidence of rare cancers is stable. Conclusions Because cancer occurs more among the elderly, and additionally more numerous post-war generation is entering this age group, it is expected that the burden of this disease will be growing further, even if the level of risk factors remains the same as today.
Ključne besede: cancer burden, cancer registry, incidence, prevalence
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1934. Electrotransfer of plasmid DNA radiosensitizes B16F10 tumors through activation of immune responseMonika Savarin, Urška Kamenšek, Maja Čemažar, Richard Heller, Gregor Serša, 2017, izvirni znanstveni članek Povzetek: Tumor irradiation combined with adjuvant treatments, either vascular targeted or immunomodulatory, is under intense investigation. Gene electrotransfer of therapeutic genes is one of these approaches. The aim of this study was to determine, whether gene electrotransfer of plasmid encoding shRNA for silencing endoglin, with vascular targeted effectiveness, can radiosensitize melanoma B16F10 tumors. Materials and methods. The murine melanoma B16F10 tumors, growing on the back of C57Bl/6 mice, were treated by triple gene electrotransfer and irradiation. The antitumor effect was evaluated by determination of tumor growth delay and proportion of tumor free mice. Furthermore, histological analysis of tumors (necrosis, apoptosis, proliferation, vascularization, presence of hypoxia and infiltration of immune cells,) was used to evaluate the therapeutic mechanisms. Results. Gene electrotransfer of plasmid silencing endoglin predominantly indicated vascular targeted effects of the therapy, since significant tumor growth delay and 44% of tumor free mice were obtained. In addition, irradiation had minor effects on radioresistant melanoma, with 11% of mice tumor free. The combined treatment resulted in excellent effectiveness with 88% of mice tumor free, with more than half resistant to secondary tumor challenge, which was observed also with the plasmid devoid of the therapeutic gene. Histological analysis of tumors in the combined treatment group, demonstrated similar mode of action of the gene electrotransfer of plasmid encoding shRNA for silencing endoglin and devoid of it, both through the induction of an immune response. Conclusions. The results of this study indicate that irradiation can in radioresistant melanoma tumors, by release of tumor associated antigens, serve as activator of the immune response, besides directly affecting tumor cells and vasculature. The primed antitumor immune response can be further boosted by gene electrotransfer of plasmid, regardless of presence of the therapeutic gene, which was confirmed by the high radiosensitization, resulting in prolonged tumor growth delay and 89% of tumor free mice that were up to 63% resistant to secondary challenge of tumor. In addition, gene electrotransfer of therapeutic plasmid for silencing endoglin has also a direct effect on tumor vasculature and tumors cells; however in combination with radiotherapy this effect was masked by pronounced immune response.
Ključne besede: gene therapy, electrotransfer, plasmid, irradiation, immune response, melanoma
Objavljeno v DiRROS: 24.05.2024; Ogledov: 579; Prenosov: 305
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1935. Poročilo o izvedbi naloge javnega naročila: »Monitoring ogljika v gozdnih tleh, mokriščih in urbanih tleh« - MEJNIK 4 : končno poročiloAleksander Marinšek, Daniel Žlindra, Mitja Ferlan, Erika Kozamernik, Boštjan Mali, Peter Horvat, Eva Zagorac, Nastja Mesarec, Janez Bergant, Borut Vrščaj, Primož Simončič, 2023, končno poročilo o rezultatih raziskav Ključne besede: monitoring, ogljik, gozdna tla, mokrišča, urbana tla
Objavljeno v DiRROS: 24.05.2024; Ogledov: 559; Prenosov: 392
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1936. Poročilo o preskusu št.: LVG 2024-044 : vzorec št. 2024/00102/thTine Hauptman, Špela Hočevar, Barbara Piškur, 2024, izvedensko mnenje, arbitražna odločba Ključne besede: varstvo gozdov, morfološke analize, PP Geosmithia morbida, bolezen tisočerih rakov, vektorji, rtPCR
Objavljeno v DiRROS: 23.05.2024; Ogledov: 413; Prenosov: 0
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1937. Risk based life-cycle planning for flood-resilient critical infrastructureSandra Škarić Palić, I. Stipanovic, E. Ganic, Mirko Kosič, Andrej Anžlin, M. Bacic, M. S. Kovacevic, K. Gavin, 2023, objavljeni znanstveni prispevek na konferenci Povzetek: The paper presents a risk assessment model, developed in the project oVER-FLOw and further implemented in the project CROSScade, for determining the direct and indirect impacts of flooding hazards. As a consequence of flooding, transport infrastructure and flood protection systems can be significantly damaged and cause cascading effects on other infrastructure. To achieve flood resilient infrastructure, it is necessary to assess the vulnerability of critical assets in the affected area. The model uses novel vulnerability assessment methods for embankments and bridges exposed to different flood hazard scenarios allowing the asset owners to understand risk and performance of their infrastructure. Scarce financial resources are allocated on the critical assets allowing significant cost savings and avoiding the waste of non-renewable resources in strengthening large sections which have sufficient resilience. The consequence analysis is based on an improved quantification model for direct and indirect impacts of different flood hazard scenarios used for risk mapping of the affected area.
Ključne besede: flooding, risk assessment, critical infrastructure, economic loss
Objavljeno v DiRROS: 23.05.2024; Ogledov: 530; Prenosov: 343
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1940. Multi-scale and multi-modal imaging study of mantle xenoliths and petrological implicationsMarco Venier, Luca Ziberna, Lucia Mancini, Alexander P. Kao, Federico Bernardini, Giacomo Roncoroni, Sula Milani, Nasrrddine Youbi, Yondon Majigsuren, Angelo De Min, Davide Lenaz, 2024, izvirni znanstveni članek Povzetek: The accurate textural characterization of mantle xenoliths is one of the fundamental steps to understanding the main processes occurring in the upper mantle, such as sub-solidus recrystallization, magmatic crystallization, and metasomatism. Texture, composition, and mineralogy reflect the temperature, pressure, stress conditions, melting, and/or contamination events undergone before and during the entrapment in the host magma. For these reasons, characterizing the three-dimensional (3D) texture of silicate, oxide, sulfide, and glass phases has great importance in the study of mantle xenoliths. We performed a multi-scale and multi-modal 3D textural analysis based on X-ray computed microtomography (µ-CT) data of three mantle xenoliths from different geodynamic settings (i.e., mobile belt zone, pericraton, oceanic hotspot). The samples were selected to represent different, variably complex internal structures composed of grains of different phases, fractures, voids, and fluid inclusions of different sizes. We used an approach structured in increasing steps of spatial and contrast resolution, starting with in-house X-ray µ-CT imaging (spatial resolution from 30 µm down to 6.25 µm) and moving to high-resolution synchrotron X-ray µ-CT at the micrometer scale. We performed a 3D characterization of mantle xenoliths, comparing the results with the analysis of conventional 2D images (thin sections) obtained by optical microscopy and simulating the random sectioning of several thin sections to estimate the probability of correct modal classification. The 3D models allow the extraction of textural information that cannot be quantified solely from thin sections: spinel layering, distribution of silicic glass, and related vesicles. Moreover, high-density volumes identified as sulfides were detected in two xenoliths, showing no relation with the spinel layering in one case and a preferential concentration along fractures in the other. Given the variety of textures and mineral assemblages of mantle xenoliths worldwide, the results are used to suggest experimental and analytical protocols for the characterization of these materials.
Ključne besede: petrology, mantle xenoliths, X-ray microtomography, multi-scale image analysis
Objavljeno v DiRROS: 23.05.2024; Ogledov: 418; Prenosov: 79
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