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Abstract: Background: In Slovenia, patients with suspected tick-borne encephalitis (TBE) were historically referred to infectious diseases (ID), but during the COVID-19 pandemic, there were increased referrals to neurology. This study compared the clinical management of TBE patients between ID specialists and neurologists and assessed patients’ outcomes. Methods: We retrospectively reviewed the clinical, laboratory, and imaging data of 318 adult patients with TBE managed by ID (n = 256; 80.5%) and neurology (n = 62; 19.5%) at a tertiary centre in Slovenia between March 2020 and September 2022 to explore variations in diagnostic and therapeutic approaches by specialty and to assess the severity and outcome of acute illness. Results: Patients referred to ID or neurology did not differ regarding their basic demographic and epidemiologic characteristics or basic laboratory parameters. However, patients referred to neurology more often presented with severe illness, including impaired consciousness and/or focal neurological signs (72.6% vs. 55.5%; p < 0.001). ID specialists used head imaging before lumbar puncture (6.6% vs. 64.5%; p < 0.001), performed microbiological tests other than for TBE (16.0% vs. 51.6%; p < 0.001), and empirically prescribed antimicrobials less often than neurology (5.1% vs. 22.6%; p < 0.001). When adjusting for age, sex, comorbidities, vaccination status, and the severity of acute illness, clinical outcomes were similar between the two groups of patients, but those with more severe acute illness had higher odds for incomplete recovery. Conclusions: Differences in clinical presentation between ID and neurology referrals could only partially explain the narrower diagnostic and therapeutic approach used by ID, which, given the study design, was not associated with adverse outcomes. Additionally, in patients with clinical characteristics suggestive of TBE in endemic areas, tremor in the absence of other focal neurological signs or impaired consciousness may not necessitate head imaging before lumbar puncture. Future prospective studies could help to optimise the management of this clinical syndrome.
Keywords: tick-borne encephalitis, clinical management, neuroimaging, outcomes, lumbar puncture
Published in DiRROS: 02.12.2025; Views: 144; Downloads: 46
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Abstract: 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.
Keywords: human diseases genetics, Infectious diseases and host defense, innate immunity and inflammation, SARS-Cov-2
Published in DiRROS: 02.12.2025; Views: 184; Downloads: 96
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Abstract: 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.
Keywords: taxonomy, power grids, digital twin, co-occurrence analysis
Published in DiRROS: 02.12.2025; Views: 74; Downloads: 36
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Abstract: 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).
Keywords: therapeutic plasma exchange, coagulation, fibrinogen concentrate, fresh frozen plasma, bleeding risk
Published in DiRROS: 01.12.2025; Views: 119; Downloads: 60
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Abstract: 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.
Keywords: hepatoglobin, IgA vasculitis, transcription data, biomarker
Published in DiRROS: 01.12.2025; Views: 126; Downloads: 54
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