551. Genetic variability in sodium-glucose cotransporter 2 and glucagonlike peptide 1 receptor effect on glycemic and pressure control in type 2 diabetes patients treated with SGLT2 inhibitors and GLP-1RA in the everyday clinical practiceGašper Tonin, Katja Goričar, Tanja Blagus, Andrej Janež, Vita Dolžan, Jasna Klen, 2025, original scientific article Abstract: We investigated the impact of genetic polymorphisms in the GLP1R and SLC5A2 genes on the response to treatment with glucagon-like peptide-1 receptor (GLP-1R) agonists and sodium-glucose co-transporter-2 (SLGT2) inhibitors in patients with type 2 diabetes mellitus (T2DM) in everyday clinical practice.In our prospective interventional cohort open-label real-world genetic association study (DRKS-ID: DRKS00034478, https://drks.de/search/en/trial/DRKS00034478), we enrolled 161 clinically well-defined T2DM patients who received SGLT2 inhibitors and/or GLP-1R agonists alongside other medications for 3-6 months. The study's primary outcomes (HbA1c, body mass, and blood pressure) were measured before the treatment and at the follow-up at 3-6 months. GLP1R rs6923761, rs10305420, and SLC5A2 rs9934336 genotypes were determined by competitive allelespecific polymerase chain reaction. In patients receiving GLP-1R agonists, we analyzed the effect of GLP1R polymorphisms on the patients' response to treatment, while in patients receiving SGLT2 inhibitors, we analyzed the impact of the SLC5A2 polymorphism on the treatment effect.Treatment with prescribed antihyperglycemic drugs improved all primary outcomes (p < 0.050). The normal GLP1R rs6923761 G allele was associated with a greater reduction in HbA1c with GLP-1R agonists treatment than the polymorphic A allele in the dominant model (p = 0.029).The prevalent polymorphic A allele of GLP1R rs6923761 polymorphism was associated with the clinically relevant lower glycemic response to GLP-1R agonists. The described impact extends to everyday clinical practice, indicating that knowledge of these genetic polymorphisms could facilitate the development of targeted and personalized therapy in managing T2DM.
Keywords: polymorphism, type 2 diabetes, treatment response
Published in DiRROS: 17.11.2025; Views: 135; Downloads: 64
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552. Genomic reanalysis of a pan-European rare-disease resource yields new diagnosesSteven Laurie, Wouter Steyaert, Elke De Boer, Kiran Polavarapu, Nika Schuermans, Anna K. Sommer, German Demidov, Aleš Maver, Borut Peterlin, 2025, original scientific article Abstract: Genetic diagnosis of rare diseases requires accurate identification and interpretation of genomic variants. Clinical and molecular scientists from 37 expert centers across Europe created the Solve-Rare Diseases Consortium (Solve-RD) resource, encompassing clinical, pedigree and genomic rare-disease data (94.5% exomes, 5.5% genomes), and performed systematic reanalysis for 6,447 individuals (3,592 male, 2,855 female) with previously undiagnosed rare diseases from 6,004 families. We established a collaborative, two-level expert review infrastructure that allowed a genetic diagnosis in 506 (8.4%) families. Of 552 disease-causing variants identified, 464 (84.1%) were single-nucleotide variants or short insertions/deletions. These variants were either located in recently published novel disease genes (n = 67), recently reclassified in ClinVar (n = 187) or reclassified by consensus expert decision within Solve-RD (n = 210). Bespoke bioinformatics analyses identified the remaining 15.9% of causative variants (n = 88). Ad hoc expert review, parallel to the systematic reanalysis, diagnosed 249 (4.1%) additional families for an overall diagnostic yield of 12.6%. The infrastructure and collaborative networks set up by Solve-RD can serve as a blueprint for future further scalable international efforts. The resource is open to the global rare-disease community, allowing phenotype, variant and gene queries, as well as genome-wide discoveries.
Keywords: rare diseases, identification, interpretation, genetic diagnosis, genomic variants
Published in DiRROS: 17.11.2025; Views: 115; Downloads: 65
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553. Postnatal levels of glycated albumin and glycated hemoglobin A1c in mothers of large-for-gestational-age newbornsMojca Železnik, Alenka Trampuš-Bakija, Darja Paro Panjan, Aneta Soltirovska Šalamon, 2024, original scientific article Abstract: Background: Gestational diabetes mellitus (GDM) is an important cause of macrosomia. The value of glycated albumin (GlyA) has been demonstrated to be a useful marker of glycemic control in pregnancy and a predictor of adverse perinatal outcomes. The aim of this study was to investigate the relationship between the postnatal levels of GlyA and glycated hemoglobin A1c (HbA1c) regarding the prenatal diagnosis of GDM in mothers of large-for-gestational-age (LGA) newborns. Methods: The study included mothers and their LGA newborns born between July 2017 and September 2019. The mothers were grouped according to the prenatal diagnosis of GDM, and measurements of GlyA and HbA1c levels in their serum were performed on the first day after delivery of a LGA newborn. Results: A total of 61 LGA newborns and their mothers were enrolled in the study. The median GlyA level was higher, at 16.4% (81.0 µmol/L), whereas the HbA1c level was lower in the group without a prenatal diagnosis of GDM; the differences between groups regarding the GlyA and HbA1c levels were not significant (p > 0.05). The postnatal level of maternal GlyA was positively correlated with birth weight (β = 0.022, p = 0.007), but no correlation with the presence of other adverse perinatal outcomes was found. Conclusion: Mothers of LGA newborns who were not diagnosed with GDM during pregnancy had higher median levels of GlyA and lower HbA1c levels than mothers with prenatal diagnosis of GDM. Values of GlyA in mothers were positively correlated with the birth weight of their newborns but no correlation with other adverse perinatal outcomes was found. Our results indicate the potential value of GlyA for screening of GDM in the last trimester of pregnancy.
Keywords: gestational diabetes mellitus, glycated albumin, glycated hemoglobin, large for gestational age, newborn
Published in DiRROS: 17.11.2025; Views: 145; Downloads: 64
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554. Overall hemostatic potential as a marker of subclinical hypercoagulability in treated psoriasis patientsEva Klara Merzel Šabović, Tadeja Kraner Šumenjak, Mojca Božič Mijovski, Miodrag Janić, 2025, original scientific article Abstract: Background: Psoriasis is associated with increased cardiovascular risk, possibly mediated by inflammation-induced hemostatic dysregulation and hypercoagulability. However, these changes are often difficult to detect with conventional markers. Objectives: To assess hypercoagulability in patients with psoriasis using the Overall Hemostatic Potential (OHP) test, a global integrative test for coagulation and fibrinolysis. Methods: We studied 80 psoriasis patients (54 men, 26 women, aged 30– 45 years) receiving effective topical or systemic treatments (methotrexate, adalimumab, secukinumab or guselkumab) and compared them with 20 healthy controls. We measured OHP, its components — overall coagulation potential (OCP) and overall fibrinolytic potential (OFP) and selected hemostatic markers (platelet count, mean platelet volume, platelet-to-lymphocyte ratio, P-selectin, D-dimer and fibrinogen). Results: Psoriasis patients had significantly higher OHP levels, primarily due to decreased OFP, while OCP levels were comparable to the control group — indicating a hypercoagulable state due to impaired fibrinolysis. Other conventional hemostatic markers showed no significant differences. OHP and OFP correlated with residual inflammatory activity, BMI, waist circumference, visceral adiposity and fibrinogen levels, suggesting a relationship between subclinical inflammation, metabolic parameters and hemostatic imbalance. Conclusion: The OHP test reveals a hypercoagulable state in psoriasis patients even in the absence of abnormal standard coagulation markers. OHP could be a practical and sensitive tool to stratify cardiovascular risk in psoriasis, especially in patients with concomitant metabolic disease or persistent inflammation.
Keywords: psoriasis, hypercoagulability, overall hemostatic potential, OHP, fibrinolysis, obesity
Published in DiRROS: 17.11.2025; Views: 146; Downloads: 61
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555. Sex differences in cholesterol levels among prepubertal childrenJan Kafol, Mia Becker, Barbara Čugalj Kern, Jaka Šikonja, Matej Mlinarič, Katarina Sedej, Matej Kafol, Ana Drole Torkar, Jernej Kovač, Tadej Battelino, Urh Grošelj, 2025, original scientific article Abstract: Background and aims: Sex differences in cholesterol levels are well documented in adults and adolescents, but limited data exist for prepubertal children. This study aimed to evaluate innate sex differences in total cholesterol (TC) and low-density lipoprotein cholesterol (LDL-C) levels among prepubertal children, both in the general population and among those with familial hypercholesterolemia (FH). Methods: This cross-sectional study used data from Slovenia’s Universal FH Screening Program. Two populationbased random samples of children undergoing routine cholesterol screening at age 5 years were included from 2014 (N = 3412) and 2023 (N = 4182). In addition, a referred cohort from the Slovenian Hypercholesterolemia Registry (n = 1160, aged <10 years) who underwent genetic testing was analyzed. Results: In both the 2014 and 2023 cohorts, girls had significantly higher TC levels than boys (median difference: 0.10–0.11 mmol/L; p < 0.05). Among FH-negative children in the Registry, girls had on average 0.14 mmol/L higher TC and 0.13 mmol/L higher LDL-C than boys (both p < 0.05). No sex differences were observed in FHpositive children (p = 0.83 for TC; p = 0.82 for LDL-C). In the overall Registry cohort, after adjusting for FH status, girls had 0.11 mmol/L higher TC and 0.10 mmol/L higher LDL-C (both p < 0.05). Conclusion: Prepubertal girls have modestly higher TC and LDL-C than boys, a difference not observed in prepubertal FH-positive children, suggesting that the presence of a pathogenic FH variant may override innate physiological differences in lipid metabolism. These findings support universal early cholesterol screening and suggest that sex-specific reference values may improve early cardiovascular risk assessment in prepubertal FHnegative children.
Keywords: sex differences, prepubertal children, total cholesterol, low-density lipoprotein cholesterol, familial hypercholesterolemia
Published in DiRROS: 17.11.2025; Views: 158; Downloads: 80
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556. Environmental evaluation of residential heating : comparative life cycle assessment of two heating systemsJanez Turk, Andreea Oarga-Mulec, Patricija Ostruh, Andraž Ceket, 2025, original scientific article Abstract: The purpose of the study is to evaluate the environmental performance of two systems for space heating and hot water provision in a residential building. In both cases, a ground-source heat pump is used. In the baseline system, the heat pump is driven by electrical power from the grid. In the alternative system, photovoltaic thermal collectors are integrated into the building for domestic hot water preparation and the production of electricity. Excess heat produced in the summer is introduced to the borehole and extracted later, in the cooler part of the year. Environmental benchmarking of the two systems was conducted using the Life Cycle Assessment method. A cradle-to-grave approach was applied, taking into account all life cycle stages of the system and its operation over 20 years. Results show that the alternative system yields significantly lower impacts in terms of Global Warming Potential (36% decrease) and Resources (36% decrease). In terms of Human Health, the decrease is minor (6%). However, in terms of Ecosystem, the alternative system shows a 47% higher impact than the baseline system. This increase is primarily attributed to the additional components required in the alternative configuration.
Keywords: LCA, GWP, heat pump, thermal energy storage, photovoltaic thermal collectors, heating, domestic hot water
Published in DiRROS: 17.11.2025; Views: 138; Downloads: 73
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557. Statistical learning improves classification of limestone provenanceRok Brajkovič, Klemen Koselj, 2025, original scientific article Abstract: Determining the lithostratigraphic provenance of limestone artefacts is challenging. We addressed the issue by analysing Roman stone artefacts, where previously traditionalpetrological methods failed to identify the provenance of 72% of the products due to the predominance of micrite limestone. We applied statistical classification methods to 15 artefacts using linear discriminant analysis, decision trees, random forest, and support vector machines. The latter achieved the highest accuracy, with 73% of the samples classified to the same stratigraphic member as determined by the expert. We improved classification reliability and evaluated it by aggregating the results of different classifiers for each stone product. Combining aggregated results with additional evidence from paleontological data or precise optical microscopy leads to successful provenance determination. After a few samples were reassigned in this procedure, a support vector machine correctly classified 87% of the samples. Strontium isotope ratios (87Sr/86Sr) proved particularly effective as provenance indicators. We successfully assigned all stone products to local sources across four lithostratigraphic members, thereby confirming local patterns of stone use by Romans. We provide guidance for future use of statistical learning in provenance determination. Our integrated approach, combining geological and statistical expertise, provides a robust framework for challenging provenance determination.
Keywords: antiquity, micrite limestone, machine learning, statistics, R, regio X, artefacts, Ig area
Published in DiRROS: 17.11.2025; Views: 123; Downloads: 30
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558. The formation and properties of large-surface-area intergranular mesoporous Al2O3 particlesKlara Šparlek, Romana Cerc Korošec, Goran Dražić, Anton Meden, Erika Švara Fabjan, 2025, original scientific article Abstract: Mesoporous γ-Al2O3 with pores formed between nanocrystals was synthesized via the hydrothermal method, varying the ethanolamines (monoethanolamine, diethanolamine, triethanolamine), pH values (6.5, 7.5, 8.5) and the temperature of the thermal treatment. Characterization techniques, including nitrogen physisorption, X-ray powder diffraction (XRD), Fourier-transform infrared spectroscopy (FT-IR), thermogravimetric-differential scanning calorimetry-mass spectrometry (TG-DSC-MS), and transmission electron microscopy (TEM), were employed to study the textural and structural properties of the materials. Thermal treatment at 500 ◦C produced mesoporous γ-Al2O3 with pores formed between nanoparticles. The materials synthesized with triethanolamine exhibited the narrowest pore size distribution and the highest specific surface area, particularly at higher pH values. The thermal treatment temperature significantly influenced the textural properties and crystallinity, with γ-Al2O3 retained up to 900 ◦C and the transformation to non-porous α-Al2O3 occurring at 1300 ◦C. These results demonstrate the critical role of synthesis parameters in understanding and optimizing the pore size and phase stability of mesoporous alumina.
Keywords: mesoporous Al2O3, hydrothermal method, intergranular porosity, ethanolamines, influence of pH, temperature of thermal treatment
Published in DiRROS: 17.11.2025; Views: 160; Downloads: 100
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559. Test methods for chloride diffusivity of blended cement pastes : a review by RILEM TC 298-EBDNeven Ukrainczyk, Thomas Bernard, Arezou Babaahmadi, Liming Huang, Christoph Zausinger, Anthony Soive, Stéphanie Bonnet, Fabien Georget, Maruša Mrak, Sabina Dolenec, Tobias Völker, Prannoy Suraneni, William Wilson, 2025, original scientific article Abstract: The use of supplementary cementitious materials (SCM) is an important part of the roadmap for reducing CO2 emissions and extending the service life of reinforced concrete structures. To accelerate the adoption of SCMs, the RILEM Technical Committee 298-EBD evaluates scaled-down cement paste test methods to assess the effect of SCM on resistance to chloride and sulfate ingress and reactivity, which are critical to concrete durability. This review focuses on methods for measuring chloride diffusivity and is divided into four sections: diffusivity models and parameters, diffusion test methods (including NMR and chloride measurements), migration test methods and implications for future research. Key insights highlight the complexities of multi-species ionic and molecular diffusion/migration, including various binding interactions, and compares the different measurement methodologies. The review also addresses the test scale and aggregate effects, noting the pros and cons of testing at the paste, mortar, and concrete scales. The review underscores the need for further investigation into testing protocols and the influence of SCM on chloride diffusion, emphasizing that comprehensive testing across different scales provides complementary information for assessing durability performance.
Keywords: cements, chloride, SCMs
Published in DiRROS: 17.11.2025; Views: 112; Downloads: 51
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560. Experimental investigations of internal macro-scale convection in the loose-fill wood fiber insulation layer of a full-scale wall elementMartin Veit, Hicham Johra, Nikolaj Rask, Simon M. Roesgaard, Rasmus Lund Jensen, 2026, original scientific article Abstract: With increasing restrictions on the energy efficiency of buildings, thicker insulation layers are installed in new and refurbished buildings to reduce heat losses. Previous studies have indicated that internal macro-scale convection cells can occur in thick porous insulation layers, decreasing the thermal performance of the envelope component. The focus of previous studies has been on horizontal insulation layers, most often composed of glass wool. Therefore, there is a lack of empirical data for loose-fill insulation and, in particular, bio-based materials, which have the potential of being more sustainable than conventional ones. The present investigation of this paper looks at the possibility of internal macro-scale convection inside loose-fill wood fiber insulation in a full-scale vertical wall element, with the modified Rayleigh number in the current investigation being between 20 and 45 and exhibiting internal convection in all cases. The experimental results show good agreement in terms of heat flux and temperature distribution with numerical simulations where the macro-scale convection is modelled explicitly. It also indicates that internal macro-scale convection can be modelled with existing building physics simulation tools, such as COMSOL. Finally, the internal macro-scale convection increases the effective U-value by up to 90 % for the highest temperature difference in steady-state conditions. This effect appears to diminish under dynamic boundary conditions, with a calculated effective U-value being within the uncertainty of the steady-state case with the lowest temperature difference, indicating that it might be less influential under real conditions.
Keywords: thermal performance, internal convection, performance gap, insulation materials
Published in DiRROS: 17.11.2025; Views: 134; Downloads: 68
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