1. 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: 100; Prenosov: 48
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2. Towards the development of a landslide activity map in SloveniaMateja Jemec Auflič, Krištof Oštir, Tanja Grabrijan, Matjaž Ivačič, Tina Peternel, Ela Šegina, 2024, izvirni znanstveni članek Povzetek: To create the landslide activity map, we implemented and tested the procedure to fully utilise the 6-day repeatability of the Sentinel-1 constellation in three pilot areas in Slovenia for the observation period from 2017 to 2021. The interferometric processing of the Sentinel-1 images was carried out with ENVI SARScape, while the interpretation of the persistent scatterers InSAR data was done in three steps. In the first step, a preliminary interpretation of the landslide areas was performed by integrating the PS InSAR data into a GIS environment with information that could be relevant to explain the movement patterns of the PS InSAR points. In the second step, a field validation was performed to check the PS InSAR in the field and record the potential damage to the objects indicating the slope mass movements. In the third step, the deformations were identified, and areas of significant movement were determined, consisting of clusters of at least 3 persistent scatterers (PS) with a maximum spacing of 10 m. The landslide activity map was created based on the landslide areas categorised into four classes based on the geotechnical analyses, yearly velocity data obtained by PS InSAR, and validation of annual velocity data obtained by in-situ and GNSS monitoring and field observation. A total of 21 polygons with different landslide activities were identified in three study areas. The overall methodology will help stakeholders in the early mapping and monitoring of landslides to increase the urban resilience.
Ključne besede: landslides, EO data, sentinel, time series, methodology, Slovenia
Objavljeno v DiRROS: 30.04.2024; Ogledov: 150; Prenosov: 69
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3. ReSurveyEurope : a database of resurveyed vegetation plots in EuropeIlona Knollová, Milan Chytrý, Helge Bruelheide, Stefan Dullinger, Ute Jandt, Markus Bernhardt-Römermann, Idoia Biurrun, Francesco de Bello, Michael Glaser, Stephan M. Hennekens, Mateja Germ, Aleksandra Golob, Janez Kermavnar, Lado Kutnar, Urban Šilc, 2024, pregledni znanstveni članek Povzetek: Aims We introduce ReSurveyEurope — a new data source of resurveyed vegetation plots in Europe, compiled by a collaborative network of vegetation scientists. We describe the scope of this initiative, provide an overview of currently available data, governance, data contribution rules, and accessibility. In addition, we outline further steps, including potential research questions. Results ReSurveyEurope includes resurveyed vegetation plots from all habitats. Version 1.0 of ReSurveyEurope contains 283,135 observations (i.e., individual surveys of each plot) from 79,190 plots sampled in 449 independent resurvey projects. Of these, 62,139 (78%) are permanent plots, that is, marked in situ, or located with GPS, which allow for high spatial accuracy in resurvey. The remaining 17,051 (22%) plots are from studies in which plots from the initial survey could not be exactly relocated. Four data sets, which together account for 28,470 (36%) plots, provide only presence/absence information on plant species, while the remaining 50,720 (64%) plots contain abundance information (e.g., percentage cover or cover–abundance classes such as variants of the Braun-Blanquet scale). The oldest plots were sampled in 1911 in the Swiss Alps, while most plots were sampled between 1950 and 2020. Conclusions ReSurveyEurope is a new resource to address a wide range of research questions on fine-scale changes in European vegetation. The initiative is devoted to an inclusive and transparent governance and data usage approach, based on slightly adapted rules of the well-established European Vegetation Archive (EVA). ReSurveyEurope data are ready for use, and proposals for analyses of the data set can be submitted at any time to the coordinators. Still, further data contributions are highly welcome.
Ključne besede: biodiversity, monitoring, species richness, vascular plants, vegetation dynamics
Objavljeno v DiRROS: 23.04.2024; Ogledov: 161; Prenosov: 64
Celotno besedilo (6,59 MB)
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4. Endobronchial ultrasound elastography strain ratio for mediastinal lymph node diagnosisAleš Rozman, Mateja Marc-Malovrh, Katja Adamič, Tjaša Šubic, Viljem Kovač, Matjaž Fležar, 2015, izvirni znanstveni članek Ključne besede: cancer staging, elastography, endobronchial ultrasound, lung cancer, needle biopsy
Objavljeno v DiRROS: 23.04.2024; Ogledov: 134; Prenosov: 52
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6. Breast cancer risk prediction using Tyrer-Cuzick algorithm with an 18-SNPs polygenic risk score in a European population with below-average breast cancer incidenceTjaša Oblak, Petra Škerl, Benjamin J. Narang, Rok Blagus, Mateja Krajc, Srdjan Novaković, Janez Žgajnar, 2023, izvirni znanstveni članek Povzetek: Goals: To determine whether an 18 single nucleotide polymorphisms (SNPs) polygenic risk score (PRS18) improves breast cancer (BC) risk prediction for women at above-average risk of BC, aged 40-49, in a Central European population with BC incidence below EU average. Methods: 502 women aged 40-49 years at the time of BC diagnosis completed a questionnaire on BC risk factors (as per Tyrer-Cuzick algorithm) with data known at age 40 and before BC diagnosis. Blood samples were collected for DNA isolation. 250 DNA samples from healthy women aged 50 served as a control cohort. 18 BC-associated SNPs were genotyped in both groups and PRS18 was calculated. The predictive power of PRS18 to detect BC was evaluated using a ROC curve. 10-year BC risk was calculated using the Tyrer-Cuzick algorithm adapted to the Slovenian incidence rate (S-IBIS): first based on questionnaire-based risk factors and, second, including PRS18. Results: The AUC for PRS18 was 0.613 (95 % CI 0.570-0.657). 83.3 % of women were classified at above-average risk for BC with S-IBIS without PRS18 and 80.7 % when PRS18 was included. Conclusion: BC risk prediction models and SNPs panels should not be automatically used in clinical practice in different populations without prior population-based validation. In our population the addition of an 18SNPs PRS to questionnaire-based risk factors in the Tyrer-Cuzick algorithm in general did not improve BC risk stratification, however, some improvements were observed at higher BC risk scores and could be valuable in distinguishing women at intermediate and high risk of BC.
Ključne besede: early breast cancer, polygenic risk score, risk prediction
Objavljeno v DiRROS: 21.03.2024; Ogledov: 148; Prenosov: 42
Celotno besedilo (1,54 MB) |
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9. New marker of angiogenesis CD105 (endoglin): diagnostic, prognostic and therapeutic roleMateja Legan, 2005, pregledni znanstveni članek Povzetek: Background. The well established notion that malignant tumours depend on angiogenesis to grow and metastasize focused the investigators interest on tumour vasculature into visualization and validation. Panendothelial markers (CD31, CD34, F8) and CD105 are differentially expressed in angiogenic and normal vessel endothelial cells. Since the former are excellent markers for the normal vasculature, CD105 (endoglin) is more suitable for identifying tumour angiogenesis. Endoglin is a transforming growth factor (TGF)- beta binding receptor, preferentially expressed on endothelial cells of angiogenic tissues, essential for angiogenesis and vascular development. Conclusions. Tumor microvessel density expressed by CD105 immunohistochemical staining in paraffin-embedded tissue section correlates significantly with tumour aggressiveness and prognosis in many solid tumours. Also, targeting of tumour neovasculature specific antigens offers the possibility of future therapeutic approaches.
Objavljeno v DiRROS: 14.02.2024; Ogledov: 187; Prenosov: 41
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10. Annular pancreas causing extrahepatic biliary obstructionMateja Ogulin, Breda Jamar, 2004, strokovni članek Povzetek: Izhodišča. Anularni pankreas, redka prirojena anomalija, je trak pankreatičnega tkiva, ki obkroža dvanajstnik ali izvenjetrni žolčni vod. Prikazujemo primer anularnega pankreasa, ki je povzročil izvenjetrno zaporo odtoka žolča. Prikaz primera. 46-letna ženska je prišla v urgentno ambulanto zaradi nenadnih bolečin v trebuhu, bruhanja in zlatenice. V zadnjih šestih letih je občasno opazila rumenkasto obarvanje kože, v zadnjem letu pa je občutila napetost v zgornjem delu trebuha, predvsem po mastnih obrokih. Zaključki. Dve ultrazvočni preiskavi, prva pred šestimi meseci, sta pokazali razširitev glavnega izvenjetrnega voda in jetrnih žolčnih izvodil. Vzrok za razširitev je ostal nejasen, tudi po endoskopski ultrazvočni preiskavi. Pri operaciji so našli skoraj popolno zaporo izvenjetrenega žolčnega voda, ki jo je povzročal traček pankreatičnega tkiva.
Objavljeno v DiRROS: 07.02.2024; Ogledov: 222; Prenosov: 40
Celotno besedilo (243,96 KB) |
