Iskanje po repozitoriju

A+ | A- | | SLO | ENG

Povzetek: Endocrine-disrupting chemicals (EDCs), includingknown and unknown parent compounds, their metabolites, andtransformation products, are pervasive in daily life, posingincreasing risks to human health and the environment. Thisstudy employed a high-resolution mass spectrometry-basednontargeted screening approach, integrating polar (HILIC) andreversed-phase separations to expand the chemical space coverageand, supported by open-science tools and resources, evaluatedurinary chemical profiles to assess internal EDC exposure. Among106 annotated biomarkers of exposure, six exhibited significantlyhigher normalized intensities in patients with ovarian malignanciescompared to healthy controls (p < 0.05). This suggests theirgreater exposure to phthalates (diethylhexyl phthalate and diethylphthalate), pesticides (metolachlor metabolite and 4-nitrophenol), a UV filter (benzophenone-1), and an industrial byproduct (4-methyl-2-nitrophenol). These compounds may interfere with hormonal regulation, potentially contributing to cancer development.While these findings highlight potential differences in internal EDC exposure, the study primarily demonstrates the applicability ofnontargeted urinary profiling for chemical exposure assessment. By providing new insights into EDCs burden and its pathologicalimplications, this work contributes to advancing next-generation chemical risk assessment within the European Partnership for theAssessment of Risks from Chemicals initiative and supports the development of preventive strategies to mitigate environmentalcancer risks
Ključne besede: ovarian cancer, biomarkers, exposure, nontargeted screening, high-resolution mass spectrometry, analytical coverage, reversed-phase, HILIC
Objavljeno v DiRROS: 02.12.2025; Ogledov: 137; Prenosov: 73
Celotno besedilo (4,13 MB)
Gradivo ima več datotek! Več...

Povzetek: Introduction Intraoperative microelectrode recording (MER) and intraoperative test stimulation may provide vital information for optimal electrode placement and clinical outcome in movement disorders patients treated with deep brain stimulation (DBS). The aims of this retrospective study were to determine (i) how often the planned (imaging based) placements of electrodes were changed due to MER and intraoperative test stimulation in Parkinson’s disease (PD), dystonia and essential tremor (ET) patients; (ii) whether the frequency of repositioning changed over time; (iii) whether patients’ age or disease duration (in PD) influenced the frequency of repositioning. Methods Data on the planned and the final placement of 141 electrodes in 72 consecutive DBS treated patients (52 PD, 11 dystonia, 9 ET) was collected over the first 8 years of DBS implementation in a single center. An association between the rate of electrode repositioning and the patients’ age, disease duration and the time/year of implementation was explored. Results Analysis of all targets showed a change in final electrode placement in 39.7 % (56/141); 39.8 % (41/103) in PD, 40.9 % (9/22) in dystonia and 37.5 % (6/16) in ET. Annual analysis showed a decrease in rate of repositioning between the centre’s first and eighth year (p = 0.013) of implementation. No correlation was found between electrode repositioning rate and patient age (p = 0.42) nor disease duration (p = 0.09) in PD. Conclusion This retrospective analysis confirms the benefit of MER and intraoperative test stimulation during DBS surgery in determining the final electrode position during the early / initial period of implementing the procedure. Our findings show a learning curve in successful preoperative planning in our centre achieved through experience.
Ključne besede: deep brain stimulation, intraoperative monitoringa, asleep DBS
Objavljeno v DiRROS: 02.12.2025; Ogledov: 129; Prenosov: 56
Celotno besedilo (882,64 KB)
Gradivo ima več datotek! Več...

Povzetek: Background: In Slovenia, patients with suspected tick-borne encephalitis (TBE) were historically referred to infectious diseases (ID), but during the COVID-19 pandemic, there were increased referrals to neurology. This study compared the clinical management of TBE patients between ID specialists and neurologists and assessed patients’ outcomes. Methods: We retrospectively reviewed the clinical, laboratory, and imaging data of 318 adult patients with TBE managed by ID (n = 256; 80.5%) and neurology (n = 62; 19.5%) at a tertiary centre in Slovenia between March 2020 and September 2022 to explore variations in diagnostic and therapeutic approaches by specialty and to assess the severity and outcome of acute illness. Results: Patients referred to ID or neurology did not differ regarding their basic demographic and epidemiologic characteristics or basic laboratory parameters. However, patients referred to neurology more often presented with severe illness, including impaired consciousness and/or focal neurological signs (72.6% vs. 55.5%; p < 0.001). ID specialists used head imaging before lumbar puncture (6.6% vs. 64.5%; p < 0.001), performed microbiological tests other than for TBE (16.0% vs. 51.6%; p < 0.001), and empirically prescribed antimicrobials less often than neurology (5.1% vs. 22.6%; p < 0.001). When adjusting for age, sex, comorbidities, vaccination status, and the severity of acute illness, clinical outcomes were similar between the two groups of patients, but those with more severe acute illness had higher odds for incomplete recovery. Conclusions: Differences in clinical presentation between ID and neurology referrals could only partially explain the narrower diagnostic and therapeutic approach used by ID, which, given the study design, was not associated with adverse outcomes. Additionally, in patients with clinical characteristics suggestive of TBE in endemic areas, tremor in the absence of other focal neurological signs or impaired consciousness may not necessitate head imaging before lumbar puncture. Future prospective studies could help to optimise the management of this clinical syndrome.
Ključne besede: tick-borne encephalitis, clinical management, neuroimaging, outcomes, lumbar puncture
Objavljeno v DiRROS: 02.12.2025; Ogledov: 157; Prenosov: 50
Celotno besedilo (353,23 KB)
Gradivo ima več datotek! Več...

Povzetek: Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, “burdenMC,” which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.2, 95% CI: 3.5–5.3, P < 10−6). BTNL8 encodes an intestinal epithelial regulator of Vγ4+γδ T cells implicated in regulating gut homeostasis. Enrichment was exclusive to MIS-C, being absent in patients with COVID-19 or bacterial disease. Using an available functional test for BTNL8, rare variants from a larger cohort of MIS-C patients (n = 835) were tested which identified eight variants in 18 patients (2.2%) with impaired engagement of Vγ4+γδ T cells. Most of these variants were in the B30.2 domain of BTNL8 implicated in sensing epithelial cell status. These findings were associated with altered intestinal permeability, suggesting a possible link between disrupted gut homeostasis and MIS-C-associated enteropathy triggered by SARS-CoV-2.
Ključne besede: human diseases genetics, Infectious diseases and host defense, innate immunity and inflammation, SARS-Cov-2
Objavljeno v DiRROS: 02.12.2025; Ogledov: 203; Prenosov: 104
Celotno besedilo (6,23 MB)
Gradivo ima več datotek! Več...

Povzetek: Digital twins (DTs) are increasingly adopted in the energy sector, yet existing conceptual frameworks and maturity models remain largely generic, limiting their usefulness for power grid applications with stringent requirements for resilience, security, and lifecycle integration. This paper proposes an upgraded taxonomy of DTs tailored to power grid systems, extending earlier generic frameworks and aligning them with the ISO/IEC30186:2025 maturity model. The taxonomy introduces domain-specific dimensions, including cyber-physical security integration, intelligence level, and multi-layered data architectures, while ensuring compatibility with internationally standardized maturity aspects. A comprehensive literature analysis and co-occurrence study underpin the revisions, ensuring both methodological rigor and relevance to current research and practice. The taxonomy’s analytical and practical value is demonstrated through its application to three real-world DT use cases: KOEN (generation-focused), Elvia (distribution-focused), and Bentley OpenUtilities (lifecycle-integrated). Comparative benchmarking across these cases highlights both commonalities and context-dependent maturity profiles, confirming that DT maturity is not absolute but shaped by organizational objectives, technical architectures, and sectoral priorities. The taxonomy also enables scenario-based reasoning and role-specific insights, supporting cybersecurity analysis, operational decision-making, and business risk evaluation. By combining academic rigor, sector-specific focus, and alignment with international standards, the proposed taxonomy offers a replicable framework for assessing and improving DT maturity in power grids. An interactive tool, openly available on GitHub, further supports its practical application by enabling benchmarking, visualization, and recommendations. In this way, the work contributes both to scholarly discourse on DT conceptualization and to the practical adoption of maturity frameworks by utilities, regulators, and technology providers.
Ključne besede: taxonomy, power grids, digital twin, co-occurrence analysis
Objavljeno v DiRROS: 02.12.2025; Ogledov: 83; Prenosov: 43
Celotno besedilo (6,27 MB)
Gradivo ima več datotek! Več...