1. Impaired neurodevelopmental genes in Slovenian autistic children elucidate the comorbidity of autism with other developmental disordersDanijela Krgović, Mario Gorenjak, Nika Rihar, Iva Opalič, Špela Stangler Herodež, Hojka Gregorič Kumperščak, Peter Dovč, Nadja Kokalj-Vokač, 2022, original scientific article Abstract: Autism spectrum disorders (ASD) represent a phenotypically heterogeneous group of patients that strongly intertwine with other neurodevelopmental disorders (NDDs), with genetics playing a significant role in their etiology. Whole exome sequencing (WES) has become predominant in molecular diagnostics for ASD by considerably increasing the diagnostic yield. However, the proportion of undiagnosed patients still remains high due to complex clinical presentation, reduced penetrance, and lack of segregation analysis or clinical information. Thus, reverse phenotyping, where we first identified a possible genetic cause and then determine its clinical relevance, has been shown to be a more efficient approach. WES was performed on 147 Slovenian pediatric patients with suspected ASD. Data analysis was focused on identifying ultrarare or “single event” variants in ASD-associated genes and further expanded to NDD-associated genes. Protein function and gene prioritization were performed on detected clinically relevant variants to determine their role in ASD etiology and phenotype. Reverse phenotyping revealed a pathogenic or likely pathogenic variant in ASD-associated genes in 20.4% of patients, with subsequent segregation analysis indicating that 14 were de novo variants and 1 was presumed compound heterozygous. The diagnostic yield was further increased by 2.7% by the analysis of ultrarare or “single event” variants in all NDD-associated genes. Protein function analysis established that genes in which variants of unknown significance (VUS) were detected were predominantly the cause of intellectual disability (ID), and in most cases, features of ASD as well. Using such an approach, variants in rarely described ASD-associated genes, such as SIN3B, NR4A2, and GRIA1, were detected. By expanding the analysis to include functionally similar NDD genes, variants in KCNK9, GNE, and other genes were identified. These would probably have been missed by classic genotype–phenotype analysis. Our study thus demonstrates that in patients with ASD, analysis of ultrarare or “single event” variants obtained using WES with the inclusion of functionally similar genes and reverse phenotyping obtained a higher diagnostic yield despite limited clinical data. The present study also demonstrates that most of the causative genes in our cohort were involved in the syndromic form of ASD and confirms their comorbidity with other developmental disorders.
Keywords: reverse phenotyping, single event variants, NDD-associated genes, GRIA1 gene, NR4A2 gene, SIN3B gene, autism, child
Published in DKUM: 12.12.2024; Views: 0; Downloads: 3
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2. Single-cell transcriptomic and targeted genomic profiling adjusted for inflammation and therapy bias reveal CRTAM and PLCB1 as novel hub genes for anti-tumor necrosis factor alpha therapy response in Crohn’s diseaseMario Gorenjak, Boris Gole, Larisa Goričan, Gregor Jezernik, Uršula Prosenc Zmrzljak, Cvetka Pernat Drobež, Pavel Skok, Uroš Potočnik, 2024, original scientific article Abstract: The lack of reliable biomarkers in response to anti-TNFα biologicals hinders
personalized therapy for Crohn’s disease (CD) patients. The motivation behind our study is to shift
the paradigm of anti-TNFα biomarker discovery toward specific immune cell sub-populations using
single-cell RNA sequencing and an innovative approach designed to uncover PBMCs gene expression
signals, which may be masked due to the treatment or ongoing inflammation; Methods: The singlecell
RNA sequencing was performed on PBMC samples from CD patients either naïve to biological
therapy, in remission while on adalimumab, or while on ustekinumab but previously non-responsive
to adalimumab. Sieves for stringent downstream gene selection consisted of gene ontology and
independent cohort genomic profiling. Replication and meta-analyses were performed using publicly
available raw RNA sequencing files of sorted immune cells and an association analysis summary.
Machine learning, Mendelian randomization, and oligogenic risk score methods were deployed to
validate DEGs highly relevant to anti-TNFα therapy response; Results: This study found PLCB1 in
CD4+ T cells and CRTAM in double-negative T cells, which met the stringent statistical thresholds
throughout the analyses. An additional assessment proved causal inference of both genes in response
to anti-TNFα therapy; Conclusions: This study, jointly with an innovative design, uncovered
novel candidate genes in the anti-TNFα response landscape of CD, potentially obscured by therapy
or inflammation.
Keywords: inflammatory bowel diseases, Crohn’s disease, tumor necrosis factor alpha, adalimumab, single-cell gene expression analysis
Published in DKUM: 10.12.2024; Views: 0; Downloads: 3
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3. Numerical analysis of low-enthalpy deep geothermal energy extraction using a novel gravity heat pipe designUrban Gselman, Vid Peršak, Darko Goričanec, 2024, original scientific article Abstract: Geothermal energy, derived from the Earth’s internal heat, can be harnessed due to the
geothermal gradient between the Earth’s interior and its surface. This heat, sustained by radiogenic
decay, varies across regions, and is highest near volcanic areas. In 2020, 108 countries utilised
geothermal energy, with an installed capacity of 15,950 MWe for electricity and 107,727 MWt for
direct use in 2019. Low-enthalpy sources require binary systems for power production. Open-loop
systems face issues like scaling, difficult water treatment, and potential seismicity, while closed-loop
systems, using abandoned petroleum or gas wells, reduce costs and environmental impacts greatly.
The novel geothermal gravity heat pipe (GGHP) design eliminates parasitic power consumption by
using hydrostatic pressure for fluid circulation. Implemented in an abandoned well in north-east
(NE) Slovenia, the GGHP uses a numerical finite difference method to model heat flow. The system
vaporises the working fluid in the borehole, condenses it at the surface, and uses gravitational flow
for circulation, maintaining efficient heat extraction. The model predicts that continuous maximum
capacity extraction depletes usable heat rapidly. Future work will explore sustainable heat extraction
and potential discontinuous operation for improved efficiency.
Keywords: geothermal energy, geothermal gravity heat pipe, numerical modelling, single well closed-loop heat exchanger
Published in DKUM: 03.09.2024; Views: 41; Downloads: 6
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4. Single-tray VLM vs dual-tray VLM : quantitative throughput comparisonGoran Đukić, Tihomir Opetuk, Brigita Gajšek, Tone Lerher, 2021, original scientific article Abstract: In this paper quantitative comparison of resulting throughputs for single-tray and dual-tray VLM devices is presented. Comparison is based on mathematical models for throughput approximating dual command times of VLM's crane, for selected parameters of VLM device (height and crane's velocity) and selected picking times per delivered tray. Analysis showed that throughput increase achieved by using dual-tray VLM's depends mostly on the average picking time relative to the expected dual command time of the VLM's crane. Highest improvements are possible for picking time equal to expected dual command time and amounts over 80%, however for extremely low or high picking times improvements are significantly reduced.
Keywords: order-picking, throughput model, vertical lift module systems, quantitative analysis, intralogistics, dual-tray VLM, single-tray VLM
Published in DKUM: 12.08.2024; Views: 48; Downloads: 9
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6. Recycling of acetate and ammonium from digestate for single cell protein production by a hybrid electrochemical-membrane fermentation processDanfei Zeng, Yufeng Jiang, Carina Schneider, Yanyan Su, Claus Hélix-Nielsen, Yifeng Zhang, 2023, original scientific article Keywords: resource reclamation, single cell protein, electrodialysis, forward osmosis, Saccharomyces cerevisiae
Published in DKUM: 10.05.2024; Views: 180; Downloads: 18
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7. Current control of battery pack modules in parallel connection according to SoCMario Vražić, Antonio Persic, Peter Virtič, Tomislav Ivanis, 2023, original scientific article Abstract: Electric vehicles, especially cars, have been in the spotlight for some time now. In the focus of environmentalists, engineers, users, media, etc. With the growth and advancement of the market for such vehicles, other electric vehicles are also focussing on. One of such vehicles is boats, particularly smaller boats up to 8–10 meters in length. Of course, the biggest problem here is charging. The general idea is to use battery modules that can be easily carried and enable hot swapping. This paper investigates scenarios and simulations of the control system for hot swapping of the battery module. Simulations of connection of two and three battery modules to parallel operation and current control are presented in this paper, as well as applied control rules.
Keywords: battery pack, battery modules, parallel connection, Bidirectional multiple input single output synchronous DC/DC converter, BMISO DC/DC converter, Hotplugin, Smart SoC control, Advanced SoC control
Published in DKUM: 08.04.2024; Views: 370; Downloads: 15
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8. Three-Phase load current reconstruction using singleshunt current measurement and modified vector modulation for three-level DC-AC converter : doctoral dissertationHaris Kovačević, 2022, doctoral dissertation Abstract: This doctoral thesis focuses on the development of Space Vector Modulation (SVM) techniques adjusted for single-shunt current measurement and applied to the three-level three-phase voltage source inverter. Based on the single-shunt current measurement, three-phase load currents are then reconstructed.
An overview of existing multilevel topologies and their main operating principles is provided within the thesis. To evaluate proposed SVM techniques adjusted for single-shunt current measurement, a three-level three-phase diode clamped voltage source inverter topology is selected. The main advantages of the selected topology are high efficiency, reduced semiconductor stress, the low capacitance of DC-link capacitors, etc. To reconstruct the three-phase load currents, a single-shunt is positioned inside the middle branch of the DC-link.
An overview of existing modulation techniques for two-level and multilevel inverters is provided within the thesis. To reconstruct three-phase load currents, three SVM methods are proposed within the thesis. Due to the lack of a current measurement window, while the voltage vector is positioned near sector or region boundary areas, additional modifications are required. The first SVM method shifts the SVM signals to ensure the minimum current measurement window needed for measurement with minimum additional vector injection. Such an approach ensures the high modulation index values greater than 0.8 with the smallest current ripple due to the SVM signal symmetry. The second method intentionally injects the colinear voltage vector into the existing vector combination to ensure the minimum time window required for current measurement. As a drawback, a smaller modulation index compared to the first method can be achieved. As an advantage, a very low modulation index of less than 0.2 can be achieved. The third method simplifies the second method by using a single SVM pattern. Such a method can be used only for very low modulation indexes and can be applied for two-level and three-level inverters.
The proposed SVM methods are implemented within the Digital Signal Processor (DSP). Experimental results confirm the proper operation of the proposed methods applied to the three-level diode clamped voltage source inverter.
Keywords: single-shunt, three-level inverter, SVM modification, current reconstruction, vector injection
Published in DKUM: 09.03.2023; Views: 396; Downloads: 62
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9. Foreign insolvent debtor : some essential questions a creditor is facing in international collective insolvency proceedingsJorg Sladič, 2012, original scientific article Abstract: Creditors in international trade are often faced with issues of an insolvent foreign debtor who often has property and assets in several states. In such a case creditors are faced with difficulties of international collective insolvency proceedings. The introductory parts of the article examines the standard questions like the question of a single, universal property of an individual or legal person and on the other hand the principles of territoriality and universality in public international law as far as the effects of foreign collective insolvency proceedings are concerned. The article then deals with issues of the centre of main interests as the point of contact and issues opened with the application of the lex concursus.
Keywords: private international law, insolvency law, principle of territoriality, principle of universality, principle of single universal assets and property, recognition of decisions of foreign courts rendered in collective insolvency proceedings, recognition of effects of a foreign collective insolvency proceedings, centre of main interests
Published in DKUM: 01.08.2018; Views: 1079; Downloads: 57
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10. Numerical modeling of floating prefabricated vertical drains in layered soilIkhya Ikhya, Helmut Schweiger, 2012, original scientific article Abstract: This paper presents a comparison of field measurements and a numerical model of settlements based on the construction of an embankment on soft soil for the Cirebon Power Plant Project in Indonesia, where prefabricated vertical drains (PVDs) were installed. In the numerical model, floating PVDs in two soil layers for two- and one-way drainage conditions are examined in order to determine the optimum penetration depth. In this study, good agreement between the field measurements of the settlements and the numerical prediction could be achieved. An interesting result of this study is that the differences in the stiffness and/or the permeability in the unimproved area below the PVD tip have a significant influence on the optimum penetration depth (L/H) in the two-soil-layer condition. The numerical study showed that it is possible to use floating PVDs in single drainage conditions if the second layer is stiffer and/or more permeable than the first layer.
Keywords: two soil layers, floating prefabricated vertical drain, double and single drainage, numerical model, soft clay, consolidation
Published in DKUM: 13.06.2018; Views: 1247; Downloads: 95
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