211. Newborn screening programs for spinal muscular atrophy worldwide in 2023Eva Vrščaj, Tamara Dangouloff, Damjan Osredkar, Laurent Servais, 2024, izvirni znanstveni članek Povzetek: BackgroundSpinal muscular atrophy is a rare, genetic neuromuscular disorder. Disease-modifying therapies, when administered early, have shown improved outcomes, leading to the implementation of numerous newborn screening programs for spinal muscular atrophy. ObjectiveThe aim of this study was to evaluate the progress in implementing newborn screening for spinal muscular atrophy and therapy accessibility worldwide, after the first paper published in 2021. MethodsWe conducted a survey, contacted experts from 143 countries worldwide, gathered responses from 86 experts from 80 countries. ResultsBy 2023, 31 countries reported established programs, 33 in the beginning of the year 2024; identifying approximately 1176 cases of spinal muscular atrophy. Additionally, the availability of disease-modifying therapies has expanded. At least one therapy is now accessible in 62 countries. Challenges, such as lack of governmental support, resource constraints, and varying healthcare priorities continue to impede implementation in some countries. ConclusionsThe data shows a significant increase in the implementation of newborn screening programs since 2021. The experts are still expressing a strong need for equitable access to standard of care for all the patients globally. Despite all setbacks, collaborative efforts have played a crucial role in newborn screening for spinal muscular atrophy implementation and currently 7% of world newborns are being screened, projections indicate an estimated 18% screening rate by 2028 Ključne besede: newborn screening, spinal muscular atrophy, pre-symptomatic, nusinersen, risdiplam, onasemnogene abeparvovec Objavljeno v DiRROS: 03.12.2025; Ogledov: 120; Prenosov: 52
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212. Mechanisms of tremor-modulating effects of primidone and propranolol in essential tremorKatarina Vogelnik Žakelj, Neža Prezelj, Milica Gregorič Kramberger, Maja Kojović, 2024, izvirni znanstveni članek Povzetek: Introduction: Primidone and propranolol are primary treatments for essential tremor, however the exact mechanisms underlying their efficacy are not fully elucidated. Understanding how these medications alleviate tremor may guide the development of additional pharmacologic treatments. Our prospective observational study employed transcranial magnetic stimulation (TMS) to explore mechanisms of primidone and propranolol effects in essential tremor. Eyeblink classical conditioning (EBCC) was tested as a potential predictor of treatment response. Methods: Patients with essential tremor underwent two evaluations: prior to commencing primidone or propranolol and following a minimum of three months of treatment. Tremor severity was assessed using accelerometry and clinically. TMS was employed to study changes in corticospinal excitability - resting and active motor thresholds, resting and active input/output curves and intracortical excitability - cortical silent period (CSP), short interval intracortical inhibition intensity curve (SICI), long interval intracortical inhibition (LICI), intracortical facilitation (ICF), and short afferent inhibition (SAI). EBCC, a marker of cerebellar function, was studied at baseline. Results: Of the 54 enrolled patients (28 primidone, 26 propranolol), 35 completed both visits. Primidone effect on decreasing hand tremor was associated with decreased corticospinal excitability, prolongation of CSP, increased LICI, increased SAI and decreased SICI. Propranolol effect on hand tremor was associated with decreased corticospinal excitability and increased SAI. Better EBCC at baseline predicted better response to primidone. Conclusions: Primidone exerts its therapeutic effects by blocking voltage-gated sodium channels and by modulating GABA-A and GABA-B intracortical circuits. Propranolol's central effects are likely mediated via noradrenergic modulation of GABA outflow Ključne besede: essential tremor, primidone and propranolol treatments Objavljeno v DiRROS: 03.12.2025; Ogledov: 79; Prenosov: 47
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213. Preverjanje verjetnostne napovedi sanitarnega poseka smreke zaradi podlubnikov v Sloveniji v 2025Nikica Ogris, Maarten De Groot, 2024, drugi znanstveni članki Povzetek: Preverili smo zanesljivost verjetnostne napovedi sanitarnega poseka smreke zaradi podlubnikov v Sloveniji v 2024. Verjetnostni model za napoved sanitarnega poseka smreke zaradi podlubnikov je potrdil visoko zanesljivost (AUC modela = 0,83, AUC napovedi = 0,83). Ugotovili smo optimalni prag za verjetnost sanitarnega poseka, ki ga bomo lahko uporabili pri naslednjih napovedih za bolj jasno določitev območij, kjer se bodo potencialno pojavila žarišča smrekovih podlubnikov. Napoved za leto 2024 smo naredili s pragom 0,45, ki pa se je izkazal za prenizkega, saj je bilo 24,1 % modelskih celic lažno pozitivnih. Optimalen prag za verjetnostni model v letu 2024 je bil 0,50, ki ga predlagamo za izdelavo vseh nadaljnjih verjetnostnih napovedih sanitarnega poseka smreke zaradi podlubnikov v Sloveniji. Ključne besede: gozdovi, varstvo gozdov, navadna smreka, Picea abies, sanitarni posek, napovedi, ogroženost gozdov, modeli, validacija, zmogljivost, zanesljivost, točnost, natančnost, AUC, občutljivost, specifičnost Objavljeno v DiRROS: 03.12.2025; Ogledov: 98; Prenosov: 61
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214. Urban Cycling Lab : a ǂcitizen science protocol for assessing and reducing exposure to environmental stressors among bike commutersMaria Alejandra Rubio, Rok Novak, Janja Snoj Tratnik, Davor Kontić, Gregor Bučar, David Kocman, 2025, izvirni znanstveni članek Povzetek: Bike commuters are regularly exposed to environmental stressors that impact their health and well-being. The Urban Cycling Lab in Ljubljana, developed within an Urban Living Lab and citizen science framework, engaged stakeholders in assessing exposure to particulate matter and noise, and in co-creating strategies to reduce it. This citizen science intervention combined sensor-enhanced ICT tools with behaviour change theory to assess both environmental and behavioural aspects of exposure. Exposure assessment included low-cost personal sensors as well as chemical analysis in biological samples to evaluate environmental exposure, while biochemical analysis of biological samples aimed to evaluate potential biological effects of exposure. Participants collected data using portable sensors and accessed real-time exposure comparisons via the Route Exposure Comparator web app. Biological samples (peripheral blood and spot urine) were collected from each participant at the end of data collection period. Data on sociodemographic characteristics, commuting habits, and environmental health literacy were collected via questionnaires. Ethnographic methods captured participants’ perceptions, route choices, and the intervention’s influence on commuting behaviour. This paper presents the methodology used to implement this intervention and provides a transferable model for participatory environmental exposure assessment. 1. Designed and implemented a citizen science intervention to assess cyclists’ exposure to air pollution and noise using sensor-enhanced ICT tools. 2. Promoted environmentally informed route choices through behaviour change strategies and digital feedback. 3. Applied survey and ethnographic methods to explore commuting behaviours and intervention impact. Ključne besede: personal sensors, environmental exposure assessment Objavljeno v DiRROS: 03.12.2025; Ogledov: 108; Prenosov: 50
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215. The pandemic and counterurbanization : a comparison of Sweden and SloveniaHans Westlund, Maruša Gorišek, Darka Podmenik, Maša Rebernik, 2024, izvirni znanstveni članek Povzetek: Based on the concept of teleworkability, its sluggish determinants of industry structure and workplace culture, and the change in people’s valuation of rural amenities that happened during the pandemic, this paper analyzes their possible influence on counterurbanization during the pandemic in Sweden and Slovenia. We found signs of open (migration) as well as “hidden” counterurbanization (unregistered rural living) in both countries, stronger in Sweden than in Slovenia, and we found indications that industrial structure and national workplace cultures contributed to differences in the strength of the counterurbanization. In both countries, we found indications that the pandemic contributed to a shift in people’s relative valuation of rural vs. urban amenities. Thus, while the sluggish factors contributed to differences in teleworkability between Sweden and Slovenia, the chock implied similar reactions in the shift of the valuation of amenities. Ever since the counterurbanization of the 1970s, studies of the phenomenon have almost solely been completed within countries, and the few international comparisons that have been completed have been based on comparing the results of the national studies. This study is one of the very first ones that compares counterurbanization and its driving forces in two countries within the same analytical framework. Ključne besede: teleworking, teleworkability, counterurbanization Objavljeno v DiRROS: 03.12.2025; Ogledov: 80; Prenosov: 20
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216. Genetic assignment at different geographical levels : a case study in a forest tree species (Pinus pinaster Ait.) using SNP markersSanna Olsson, Delphine Grivet, Marjana Westergren, Santiago C. González-Martínez, Ricardo Alía, Juan José Robledo-Arnuncio, 2025, izvirni znanstveni članek Povzetek: Genetic markers can assist in the identification of the stock origin in different organisms. Comparative studies of forest tree provenances have demonstrated that forest tree populations differ in performance across environments and at multiple geographic levels: populations nested within regions nested within gene pools. These levels are critical for conservation and sustainable use of genetic resources: regions of provenance are key units for seed marketing, while populations guide reproductive material collection under most seed regulations. Despite their potential, genetic methods have rarely been applied to identify forest tree origins due to methodological (sufficient number of highly discriminatory markers) and practical (construction of a baseline composed of a representative selection of samples) challenges. In our study, we analyzed a genomic dataset comprising 10,185 SNPs from 1579 samples of Pinus pinaster, a species with strong population structure, across 86 populations, 45 regions of provenance, and 10 gene pools, to discriminate among these hierarchical levels and assign individuals to them. We used two software packages to evaluate the reliability of our baseline dataset (i.e., reference data) for genetic discrimination and assignment: RUBIAS, which performs genetic stock identification and associated tasks, and assignPOP, implementing a supervised machine-learning genetic-assignment framework. Using numerical validation analyses, we assessed their suitability and limitations for origin inference at each geographical level. Our results indicate that origin assignment is reliable in P. pinaster at the gene pool and region of provenance levels, but less so at the population level, provided that the 10 K SNP markers and a comprehensive genetic baseline are used. Incomplete baselines may result in wrong assignments at any hierarchical level, irrespective of sampling intensity for sampled candidate origins. We provide an extensive and publicly available baseline for P. pinaster, offering a useful tool for the management of forest genetic resources of this economically and ecologically important tree species. Ključne besede: gene pool, genetic assignment, maritime pine, origin identification, region of provenance, SNP marker Objavljeno v DiRROS: 03.12.2025; Ogledov: 108; Prenosov: 56
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217. 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: 55; Prenosov: 36
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218. “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: 103; Prenosov: 51
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220. 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: 109; Prenosov: 46
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