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192. Information-optimal mixing at low Reynolds numberLuca Cocconi, Yihong Shi, Andrej Vilfan, 2025, original scientific article Abstract: 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.
Keywords: information thermodynamics, mixing enhancement, nonequilibrium statistical mechanics, shear flows
Published in DiRROS: 03.12.2025; Views: 107; Downloads: 45
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194. 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, original scientific article Abstract: 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
Keywords: nanodelci, numerični model, elektro tansfer
Published in DiRROS: 02.12.2025; Views: 129; Downloads: 52
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195. Packing $d$-dimensional balls into a $d + 1$-dimensional containerHelmut Alt, Sergio Cabello, Otfried Cheong, Ji-won Park, Nadja Seiferth, 2026, original scientific article Abstract: 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.
Keywords: packings, translations, unit disks, unit balls, volume
Published in DiRROS: 02.12.2025; Views: 91; Downloads: 44
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196. 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, other scientific articles Keywords: left ventricular noncompaction cardiomyopathy, microtubule-associated scaffold protein 1 (MTUS1), whole-genome sequencing
Published in DiRROS: 02.12.2025; Views: 140; Downloads: 62
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197. 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, original scientific article Abstract: 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
Keywords: ovarian cancer, biomarkers, exposure, nontargeted screening, high-resolution mass spectrometry, analytical coverage, reversed-phase, HILIC
Published in DiRROS: 02.12.2025; Views: 125; Downloads: 65
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198. 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, original scientific article Abstract: 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.
Keywords: Titin, TTNtv, I-band, TTN:c.12478del, dilated cardiomyopathy, DCM
Published in DiRROS: 02.12.2025; Views: 123; Downloads: 57
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199. The role of intraoperative monitoring in target selection in deep brain stimulation : a single centre studySandro Ibrulj, Dejan Georgiev, Žiga Samsa, Polona Mušič, Mitja Benedičič, Maja Trošt, 2025, original scientific article Abstract: 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.
Keywords: deep brain stimulation, intraoperative monitoringa, asleep DBS
Published in DiRROS: 02.12.2025; Views: 116; Downloads: 50
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200. Long-term effect and reasons for switching and combining device-aided therapies in Parkinson’s DiseaseDejan Georgiev, Maja Trošt, 2025, review article Abstract: Introduction. In the advanced stages of Parkinson’s disease (PD), when standard drug adjustments fail to sufficiently improve patients’ quality of life, device-aided therapies (DATs) such as deep brain stimulation (DBS), continuous subcutaneous apomorphine infusion (CSAI), levodopa-carbidopa intestinal gel infusion (LCIG), levodopa-carbidopa-entacapone intestinal gel infusion, or continuous subcutaneous foslevodoa-foscarbidopa infusion are beneficial in the long run. However, sometimes patients need to switch or combine DATs due to either adverse events or loss of efficacy. Aim of study. The aim of this article was to summarise the existing data on the long-term efficacy and adverse events of DATs, and to review the data on the rationale and efficacy for switching or combining DATs in advanced PD. State of the art. A total of 50 studies on the long-term efficacy of DBS (N = 28), LCIG (N = 12), CSAI (N = 10) and 13 studies on switching and combining DATs were included in this review. Although the DATs show a favourable long-term effect on the main motor and non-motor symptoms of PD they all feature specific adverse events that need to be considered when deciding which DAT to offer to a particular patient. Occasionally, switching or combining DATs is recommended, e.g. if the first DAT shows inadequate symptom control, or due to adverse events. The choice of the second DAT depends above all on the main problems of the first DAT being correctly recognised. Clinical implications. DATs are a safe and long-term effective option for the treatment of advanced PD. Switching and/or combining DATs is recommended for patients in whom the first treatment option is not optimal. Future directions. Future studies are warranted to address the unresolved issues related to long-term efficacy, side effect profile and switching and combination of DATs in multicentric studies and using advanced analytical approaches such as machine learning.
Keywords: advanced Parkinson’s Disease, device-aided therapies, long-term effect of device-aided therapies
Published in DiRROS: 02.12.2025; Views: 101; Downloads: 50
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