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Povzetek: Amyotrophic lateral sclerosis (ALS) is a rapidly progressive adult-onset neurodegenerative disease that is often diagnosed with a delay due to initial non-specific symptoms. Therefore, reliable and easy-to-obtain biomarkers are an absolute necessity for earlier and more accurate diagnostics. Circular RNAs (circRNAs) have already been proposed as potential biomarkers for several neurodegenerative diseases. In this study, we further investigated the usefulness of circRNAs as potential biomarkers for ALS. We first performed a microarray analysis of circRNAs on peripheral blood mononuclear cells of a subset of ALS patients and controls. Among the differently expressed circRNA by microarray analysis, we selected only the ones with a host gene that harbors the highest level of conservation and genetic constraints. This selection was based on the hypothesis that genes under selective pressure and genetic constraints could have a major role in determining a trait or disease. Then we performed a linear regression between ALS cases and controls using each circRNA as a predictor variable. With a False Discovery Rate (FDR) threshold of 0.1, only six circRNAs passed the filtering and only one of them remained statistically significant after Bonferroni correction: hsa_circ_0060762 and its host gene CSE1L. Finally, we observed a significant difference in expression levels between larger sets of patients and healthy controls for both hsa_circ_0060762 and CSE1L. CSE1L is a member of the importin β family and mediates inhibition of TDP-43 aggregation; the central pathogenicity in ALS and hsa_circ_0060762 has binding sites for several miRNAs that have been already proposed as biomarkers for ALS. In addition, receiver operating characteristics curve analysis showed diagnostic potential for CSE1L and hsa_circ_0060762. Hsa_circ_0060762 and CSE1L thus represent novel potential peripheral blood biomarkers and therapeutic targets for ALS.
Ključne besede: amyotrophic lateral sclerosis, ALS, circRNA, biomarker, peripheral blood biomarker, hsa_circ_0060762, CSE1L, biomedicine
Objavljeno v DiRROS: 12.07.2024; Ogledov: 324; Prenosov: 243
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Povzetek: The northern Adriatic Sea is well known for mercury (Hg) contamination mainly due to historical Hg mining which took place in Idrija (Slovenia). The formation of dissolved gaseous mercury (DGM) and its subsequent volatilisation can reduce the amount of Hg available in the water column. In this work, the diurnal patterns of both DGM production and gaseous elemental Hg (Hg0) fluxes at the water-air interface were seasonally evaluated in two selected environments within this area, a highly Hg-impacted, confined fish farm (VN: Val Noghera, Italy) and an open coastal zone less impacted by Hg inputs (PR: Bay of Piran, Slovenia). A floating flux chamber coupled with a real-time Hg0 analyser was used for flux estimation in parallel with DGM concentrations determination through in-field incubations. Substantial DGM production was observed at VN (range = 126.0–711.3 pg L−1) driven by both strong photoreduction and possibly dark biotic reduction, resulting in higher values in spring and summer and comparable concentrations throughout both day and night. Significantly lower DGM was observed at PR (range = 21.8–183.4 pg L−1). Surprisingly, comparable Hg0 fluxes were found at the two sites (range VN = 7.43–41.17 ng m−2 h−1, PR = 0–81.49 ng m−2 h−1), likely due to enhanced gaseous exchanges at PR thanks to high water turbulence and to the strong limitation of evasion at VN by water stagnation and expected high DGM oxidation in saltwater. Slight differences between the temporal variation of DGM and fluxes indicate that Hg evasion is more controlled by factors such as water temperature and mixing conditions than DGM concentrations alone. The relative low Hg losses through volatilisation at VN (2.4–4.6% of total Hg) further confirm that static conditions in saltwater environments negatively affect the ability of this process in reducing the amount of Hg retained in the water column, therefore potentially leading to a greater availability for methylation and trophic transfer.
Ključne besede: Idrija mercury mine, mercury evasion, fish farm, flux chamber, water-air exchange, Adriatic Sea, Idrijski rudnik živega srebra, ribogojnica, pretočna komora, izmenjava voda-zrak, Jadransko morje
Objavljeno v DiRROS: 12.07.2024; Ogledov: 354; Prenosov: 242
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Povzetek: The advances in high-throughput sequencing (HTS) technologies and bioinformatic tools have provided new opportunities for virus and viroid discovery and diagnostics. Hence, new sequences of viral origin are being discovered and published at a previously unseen rate. Therefore, a collective effort was undertaken to write and propose a framework for prioritizing the biological characterization steps needed after discovering a new plant virus to evaluate its impact at different levels. Even though the proposed approach was widely used, a revision of these guidelines was prepared to consider virus discovery and characterization trends and integrate novel approaches and tools recently published or under development. This updated framework is more adapted to the current rate of virus discovery and provides an improved prioritization for filling knowledge and data gaps. It consists of four distinct steps adapted to include a multi-stakeholder feedback loop. Key improvements include better prioritization and organization of the various steps, earlier data sharing among researchers and involved stakeholders, public database screening, and exploitation of genomic information to predict biological properties.
Ključne besede: plant viruses and viroids, high throughput sequencing (HTS), biological characterization, plant health, regulatory agencies, Pest Risk Analysis (PRA), virus disease
Objavljeno v DiRROS: 12.07.2024; Ogledov: 403; Prenosov: 167
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Povzetek: The aim of our study was to evaluate the quality of surgery of Slovenian breast cancer screening program (DORA) using the requested EU standards. Furthermore, we investigated whether regular quality control over the 3-year period improved the quality of surgical management. Patients and methods. Patients who required surgical management within DORA between January 1st, 2016 and December 31st, 2018 were included in the retrospective study. Quality indicators (QIs) were adjusted mainly according to European Society of Breast Cancer Specialists (EUSOMA) and European Breast Cancer Network (EBCN) recommendations. Five QIs for therapeutic and two for diagnostic surgeries were selected. Additionally, variability in achieving the requested QIs among surgeons was analysed. Results. Between 2016 and 2018, 14 surgeons performed 1421 breast procedures in 1398 women. There were 1197 therapeutical (for proven breast cancer) and 224 diagnostic surgical interventions respectively. Overall, the minimal standard was met in two QIs for therapeutic and none for diagnostic procedures. A statistically significant improvement in three QIs for therapeutic and in one QI for diagnostic procedures was observed however, indicating that regular quality control improves the quality of surgery. A high variability in achieving the requested QIs was observed among surgeons, which remained high throughout the study period. Conclusions. Adherence to all selected surgical QIs in patients from screening program is difficult to achieve, especially to those specifically defined for screen-detected lesions. Regular quality control may improve results over time. Reducing the number of surgeons dedicated to breast pathology may reduce variability of management inside the institution.
Ključne besede: breast surgery, mammography, screening program, quality control
Objavljeno v DiRROS: 12.07.2024; Ogledov: 305; Prenosov: 112
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Povzetek: A large proportion of the insects which have invaded new regions and countries are emerging species, being found for the first time outside their native range. Being able to detect such species upon arrival at ports of entry before they establish in non-native countries is an urgent challenge. The deployment of traps baited with broad-spectrum semiochemical lures at ports-of-entry and other high-risk sites could be one such early detection tool. Rapid progress in the identification of semiochemicals for cerambycid beetles during the last 15 years has revealed that aggregation-sex pheromones and sex pheromones are often conserved at global levels for genera, tribes or subfamilies of the Cerambycidae. This possibly allows the development of generic attractants which attract multiple species simultaneously, especially when such pheromones are combined into blends. Here, we present the results of a worldwide field trial programme conducted during 2018–2021, using traps baited with a standardised 8-pheromone blend, usually complemented with plant volatiles. A total of 1308 traps were deployed at 302 sites covering simultaneously or sequentially 13 European countries, 10 Chinese provinces and some regions of the USA, Canada, Australia, Russia (Siberia) and the Caribbean (Martinique). We intended to test the following hypotheses: 1) if a species is regularly trapped in significant numbers by the blend on a continent, it increases the probability that it can be detected when it arrives in other countries/continents and 2) if the blend exerts an effective, generic attraction to multiple species, it is likely that previously unknown and unexpected species can be captured due to the high degree of conservation of pheromone structures within related taxa. A total of 78,321 longhorned beetles were trapped, representing 376 species from eight subfamilies, with 84 species captured in numbers greater than 50 individuals. Captures comprised 60 tribes, with 10 tribes including more than nine species trapped on different continents. Some invasive species were captured in both the native and invaded continents. This demonstrates the potential of multipheromone lures as effective tools for the detection of ‘unexpected’ cerambycid invaders, accidentally translocated outside their native ranges. Adding new pheromones with analogous well-conserved motifs is discussed, as well as the limitations of using such blends, especially for some cerambycid taxa which may be more attracted by the trap colour or other characteristics rather than to the chemical blend.
Ključne besede: pheromone trapping, invasion, early detection, Holarctic, multi-pheromone blend
Objavljeno v DiRROS: 12.07.2024; Ogledov: 346; Prenosov: 344
Celotno besedilo (4,79 MB)
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