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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: 190; Prenosov: 100
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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: 76; Prenosov: 36
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Povzetek: Background: Therapeutic plasma exchange (TPE) removes coagulation factors and leads to depletion coagulopathy. The aim of the study was to compare hemostasis between TPE procedures without coagulation factor replacement (electrolyte group), the partial replacement of fibrinogen with fibrinogen concentrates (fibrinogen group) and partial coagulation factors replacement with fresh frozen plasma (partial FFP group). Methods: A total of 73 TPE procedures in patients with fibrinogen levels 1–2 g/L were divided into three study groups depending on clinically estimated bleeding risk. Standard coagulation and ROTEM® tests were performed before and after TPE. Results: Fibrinogen levels before TPE (p = 0.88) and after TPE (p = 0.33) were comparable between the fibrinogen and partial FFP groups. INR and ROTEM® parameters reflected moderately worse hemostasis after TPE with fibrinogen-only replacement compared to partial FFP replacement, which could result in increased bleeding risk. In the electrolyte group, most laboratory tests confirmed the most deranged hemostasis after TPE, as compared to fibrinogen or partial FFP replacement. A mild allergic reaction to FFP infusion was noted during one TPE. No clinically significant bleeding occurred in any of the study groups. Conclusions: Fibrinogen concentrate supplementation and partial FFP replacement can both maintain fibrinogen levels > 1 g/L after TPE, but modest differences in classical coagulation tests and bedside ROTEM® tests favor FFP replacement (NCT03801135).
Ključne besede: therapeutic plasma exchange, coagulation, fibrinogen concentrate, fresh frozen plasma, bleeding risk
Objavljeno v DiRROS: 01.12.2025; Ogledov: 123; Prenosov: 61
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Povzetek: Introduction: IgA vasculitis (IgAV) can present as skin-limited or systemic disease, which can be severe in adults. Predictive markers for visceral involvement are suboptimal. Considering haptoglobin's role as an acute phase reactant, we evaluated whether its differential expression in IgAV patients' skin and leukocytes is also reflected systemically in a larger cohort of adult IgAV patients. Additionally, soluble form of haptoglobin scavenger receptor CD163 was measured in IgAV patient serum. Methods: We re-analyzed RNA sequencing data from leukocytes and skin biopsies of treatment-naïve adult IgAV patients: (1) IgAV nephritis (n = 3), (2) skin-limited IgAV (n = 3), and healthy controls (n = 3). Haptoglobin serum level was measured in 178, and haptoglobin genotyping was performed in 91 treatment-naïve adult IgAV patients. Serum sCD163 was measured in 60 IgAV patients and 22 HC. Results: Transcriptomic data of leukocytes and skin of IgAV nephritis patients identified haptoglobin as a hub gene, based on protein-protein interaction network. Haptoglobin serum level was elevated in IgAV patients with nephritis or gastrointestinal involvement compared to other IgAV patients. Patients who relapsed during follow-up had decreased haptoglobin serum level at disease presentation compared to non-relapsing patients. Haptoglobin genotyping did not show differences between genotype groups regarding clinical presentation and laboratory parameters. Serum sCD163 was significantly higher in IgAV nephritis patients compared to HC. Conclusion: We identified haptoglobin as a novel marker of visceral involvement and relapse in adult IgAV, while sCD163 is linked to renal involvement. Further studies will confirm the clinical utility of haptoglobin as biomarker in IgAV. Key Points • Haptoglobin expression is upregulated in leukocytes and skin of adult IgAV with renal involvement. • Haptoglobin serum level is elevated in IgAV patients with visceral involvement. • Patients with IgAV relapse have lower haptoglobin at disease presentation.
Ključne besede: hepatoglobin, IgA vasculitis, transcription data, biomarker
Objavljeno v DiRROS: 01.12.2025; Ogledov: 130; Prenosov: 56
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Povzetek: We present the Global Impacts Dataset of Invasive Alien Species (GIDIAS), a global dataset of 22865 records including impacts of invasive alien species on nature, nature’s contributions to people, and good quality of life. Records include positive and negative impacts, neutral impacts (studies were carried out, but no impacts were documented), non-directional impacts (i.e., change without detriments or benefits for native species or people), and finally, some records of alien species where no studies were found that assessed their impacts (indicating data gaps). Records cover 3353 invasive alien species from all major taxa (plants, vertebrates, invertebrates, microorganisms) and all continents and realms (terrestrial, freshwater, marine). The data were compiled to serve as robust evidence for chapter 4 “Impacts of invasive alien species on nature, nature's contributions to people, and good quality of life” of the global assessment report on invasive alien species by the Intergovernmental Science-Policy Platform on Biodiversity and Ecosystem Services (IPBES; available on Zenodo at https://doi.org/10.5281/zenodo.7430731). The dataset is provided in a machine-readable CSV file (file name GIDIAS_20250417_machine_read.csv), with special language characters retained where used (UTF-8 format). The dataset is also provided in Excel format (file name GIDIAS_20250417_Excel.xlsx). Metadata is provided in Excel format, including descriptors for each variable (file name GIDIAS_metadata_20250417.xlsx). Additional explanations for GIDIAS is stored in Microsoft Word format (docx) and contains (1) a short description of the principles of Environmental and Socio-Economic Impact Classification for Alien Taxa (EICAT, SEICAT), (2) a description of the variables included in the Global Impacts Dataset of Invasive Alien Species GIDIAS, and (3) a compilation of the search strategies and datasets included in the Global Impact Dataset of Invasive Alien Species (GIDIAS).
Ključne besede: invasive alien species, research data
Objavljeno v DiRROS: 01.12.2025; Ogledov: 149; Prenosov: 61
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