251. MicroRNA expression profiles in sinonasal biopsies to support diagnosis of granulomatosis with polyangiitisMilanka Živanović, Alojzija Hočevar, Nina Zidar, Metka Volavšek, Luka Bolha, 2025, izvirni znanstveni članek Povzetek: Objectives: To identify aberrantly expressed microRNAs (miRNAs) in sinonasal tissue biopsies of patients with granulomatosis with polyangiitis (GPA), associate their expression profiles to sinonasal histopathology, and assess their differential expression between subgroups of clinically proven GPA patients, healthy controls and patients exhibiting inflammation of other etiology. Methods: We included formalin-fixed, paraffin-embedded biopsy tissue samples of sinonasal mucosa from 37 patients with clinically proven GPA, 15 patients with inflammation of other etiology and 14 control patients with normal histology. Of the included GPA patients, 20 patients had characteristic GPA-related histological features, while 17 patients displayed non-specific GPA histopathology in their sinonasal biopsy. Assessment of histological parameters was performed using histopathological techniques, and analysis of miRNA expression with miRCURY LNA miRNA miRNome Human PCR Panels and quantitative real-time PCR. Results: We determined expression of 306 miRNAs in sinonasal biopsy samples, which displayed different extent of dysregulation between individual patient groups. Based on their potential to discriminate between the controls, non-GPA and GPA patient subgroups, dysregulation of 11 miRNAs was further assessed, of which miR-1-3p/-21-3p/-93-5p/-155-5p/-1248/-31-3p/-182-5p/-183-5p and let-7b-5p held the potential to stratify patients based on their sinonasal tissue miRNA profile. Notably, several of these miRNAs were associated with the presence of granulomas, vasculitis and necrosis in sinonasal biopsies of GPA patients. Conclusion: Our study identifies novel miRNAs putatively implicated in the pathogenesis of GPA, and highlights dysregulated miRNAs as supporting biomarkers in establishing GPA diagnosis, particularly in the early phases of the disease, or in patients with atypical GPA presentation.
Ključne besede: biomarker, granulomatosis with polyangiitis, inflammation, microRNA, sinonasal tissue
Objavljeno v DiRROS: 03.12.2025; Ogledov: 64; Prenosov: 41
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252. “Challenging but worth it!” : the purpose of participatory research in urban health, an evaluation and derived frameworkMaria Alejandra Rubio, Rok Novak, Laura Hidalgo, Jill Litt, Don Slater, David Kocman, 2026, izvirni znanstveni članek Povzetek: Participatory approaches are becoming paramount to harness the relationship between researchers, government, industry, and civil society to inform programs and policies. However, variability in implementation and limited standardized reporting hinder the systematic evaluation of their effectiveness. This study characterizes participatory methodologies in urban health research and proposes a framework for evaluating and reporting such approaches. Using an explanatory sequential design, this study evaluated 20 participatory pilot studies from the Urban Health Cluster (Horizon 2020 European Commission Programme), combining survey data and semi-structured interviews with project leads. The analysis identified four primary purposes for participatory methods: to assess health-environment correlations; raise awareness; co-create interventions; and assess health-related effects. Case studies exemplify each of these purposes. Findings informed a “purpose framework” nested within a theory-of-change model, which clarifies the rationale behind participatory approaches and maps their processes and intended impacts. The framework includes indicators for purpose, stakeholder involvement, participation mechanisms, facilitators, challenges, expected outcomes, and evaluation strategies, reported across all 20 projects. Public authorities (90 %) and civil society (85 %) are the most frequently engaged stakeholders, typically involved during project identification and deployment. Engagement was facilitated by shared motivation to address local needs, while long-term commitment posed challenges. Our results highlight the limited use of theory-of-change models in current practice and the value of structured frameworks for enhancing the reproducibility and transformative impact of participatory urban health research. The proposed framework can help align participatory methods with a theory of change and foster more effective urban health transformations.
Ključne besede: participatory research, public engagement, standardized reporting, urban health
Objavljeno v DiRROS: 03.12.2025; Ogledov: 115; Prenosov: 57
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254. Information-optimal mixing at low Reynolds numberLuca Cocconi, Yihong Shi, Andrej Vilfan, 2025, izvirni znanstveni članek Povzetek: Mutual information between particle positions before and after mixing provides a universal assumption-free measure of mixing efficiency at low Reynolds number that accounts for the kinematic reversibility of the Stokes equation. For a generic planar shear flow with time-dependent shear rate, we derive a compact expression for the mutual information as a nonlinear functional of the shearing protocol and solve the associated extremization problem exactly to determine the optimal control under both linear and nonlinear constraints, specifically total shear and total dissipation per unit volume. Remarkably, optimal protocols turn out to be universal and time-reversal symmetric in both cases. Our results establish a minimum energetic cost of erasing information in a broad class of nonequilibrium drift-diffusive systems.
Ključne besede: information thermodynamics, mixing enhancement, nonequilibrium statistical mechanics, shear flows
Objavljeno v DiRROS: 03.12.2025; Ogledov: 122; Prenosov: 53
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256. Llimited efficacy of nanoparticle-assisted electroporation for membrane permeabilization and gene electrotransferTamara Polajžer, Matej Kranjc, Slavko Kralj, Maja Caf, Rok Romih, Samo Hudoklin, Federica Rocca, Damijan Miklavčič, 2025, izvirni znanstveni članek Povzetek: Nanoparticles (NPs) were previously explored as enhancers in electroporation due to their potential to locally amplify electric fields near cell mem branes, with gold nanoparticles (AuNPs) in particular showing promise in improving membrane permeability and gene electrotransfer (GET). In this study, we systematically investigated the influence of NP properties—including size, shape, surface functionaliza tion, and material—on electroporation efficacy. Methods: A combined approach using theoretical modeling and experimental validation was employed, encompassing numerical simulations, membrane permeabilization assays, transmission electron microscopy Numerical results revealed that the presence of NPs alters local electric field distributions, but the amplification is highly localized, regardless of NPconductivity or geometry. Experimentally, only two out of six tested NP types produced a statistically significant, yet modest, increase in membrane permeability at one electric f ield intensity. Similarly, GET improvement was observed with only one NP type, with no dependence on concentration or functionalization. Conclusions: Overall, our findings demonstrate that NPs, under tested conditions, do not substantially enhance cell membrane permeability or GET efficacy. These conclusions are supported by both computational modeling and in vitro experiments
Ključne besede: nanodelci, numerični model, elektro tansfer
Objavljeno v DiRROS: 02.12.2025; Ogledov: 145; Prenosov: 62
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257. Packing $d$-dimensional balls into a $d + 1$-dimensional containerHelmut Alt, Sergio Cabello, Otfried Cheong, Ji-won Park, Nadja Seiferth, 2026, izvirni znanstveni članek Povzetek: In this article, we consider the problems of finding in $d + 1$ dimensions a minimum-volume axis-parallel box, a minimum-volume arbitrarily-oriented box and a minimum-volume convex body into which a given set of $d$-dimensional unit-radius balls can be packed under translations. The computational problem is neither known to be NP-hard nor to be in NP. We give a constant-factor approximation algorithm for each of these containers based on a reduction to finding a shortest Hamiltonian path in a weighted graph, which in turn models the problem of stabbing the centers of the input balls while keeping them disjoint. We also show that for $n$ such balls, a container of volume $O(n^{d−1 \over d})$ is always sufficient and sometimes necessary. As a byproduct, this implies that for $d \ge 2$ there is no finite size $(d + 1)$-dimensional convex body into which all $d$-dimensional unit-radius balls can be packed simultaneously.
Ključne besede: packings, translations, unit disks, unit balls, volume
Objavljeno v DiRROS: 02.12.2025; Ogledov: 105; Prenosov: 54
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258. The role of the MTUS1 gene in the development of left ventricular noncompaction cardiomyopathy : a case reportTevž Gorjanc, Jaka Šikonja, Ana Drole Torkar, Mojca Žerjav-Tanšek, Jernej Kovač, Sara Bertok, Maruša Debeljak, Zvezdana Dolenc-Stražar, Marija Meznarič, Jernej Mlakar, Mirko Topalović, Gorazd Mlakar, Tadej Battelino, Urh Grošelj, 2025, drugi znanstveni članki Ključne besede: left ventricular noncompaction cardiomyopathy, microtubule-associated scaffold protein 1 (MTUS1), whole-genome sequencing
Objavljeno v DiRROS: 02.12.2025; Ogledov: 147; Prenosov: 65
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259. Nontargeted urinary profiling strategy for endocrine-disrupting chemicals in women with ovarian malignanciesHelena Plešnik, Žan Rekar, Stefanela Stevanović, Irma Virant-Klun, Senka Imamović-Kumalić, Mateja Sladič, Darja Mazej, Janja Snoj Tratnik, Milena Horvat, Tina Kosjek, 2025, izvirni znanstveni članek 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: 143; Prenosov: 78
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260. TTN:c.12478del in proximal I-band of titin represents a common molecular cause of dilated cardiomyopathy in Slovenian patientsNina Vodnjov, Andraž Cerar, Aleš Maver, Borut Peterlin, Karin Writzl, 2025, izvirni znanstveni članek Povzetek: Background Titin truncating variants (TTNtv-s) are the most common genetic cause of dilated cardiomyopathy (DCM). Only rare TTNtv-s in the constitutively expressed exons of the A-band of the protein titin are associated with DCM according to the guidelines, however, studies in large cohorts of patients with DCM suggest that the region where TTNtv-s are associated with DCM is wider, extending at least into the I-band. The aim of this study was to describe the molecular pathology of TTNtv-s in Slovenian patients with cardiomyopathy and to clinically characterise the most recurrent TTNtv. Results We collected all TTNtv-s identified in patients with cardiomyopathy using next-generation sequencing genetic testing between 2010 and July 2024, resulting in 42 unique variants identified in 54 patients. The TTN:c.12478del variant, affecting not the A-band but the proximal I-band, specifically the cardiac-specific N2Bus region, was found to be the most recurrent variant, present in seven (11.6%) probands with DCM. Genetic characterisation revealed a probable founder origin of the variant. Clinical characterisation of these probands revealed a phenotype consistent with DCM and severely reduced left ventricular ejection fraction in all probands. Three (43%) of the probands had atrial fibrillation and/or non-sustained ventricular tachycardia. Based on literature reports and evidence supporting the pathogenicity of the TTN:c.12478del variant affecting the proximal I-band, we classified all rare TTNtv-s in constitutively expressed exons of the I-band as (likely) pathogenic. Therefore, 33 (78.6%) TTNtv-s were classified as (likely) pathogenic (13 in the I-band, affecting 19 probands and 20 in the A-band affecting 25 probands), meaning that TTNtv-s were identified in 44 genotype-positive Slovenian probands with DCM, explaining 73.3% of the molecular pathology of DCM. Conclusion We report an almost threefold higher diagnostic yield of TTNtv-s in probands with DCM compared to previously reported findings in cohorts of patients with DCM from other populations. We also highlight the need for screening for rare TTNtv-s in the constitutively expressed exons of the I-band and for TTN:c.12478del in patients with DCM in this geographical region.
Ključne besede: Titin, TTNtv, I-band, TTN:c.12478del, dilated cardiomyopathy, DCM
Objavljeno v DiRROS: 02.12.2025; Ogledov: 134; Prenosov: 62
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