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Abstract: Introduction: Skeletal dysplasia (SD) is a large and heterogeneous group of rare genetic disorders that affects bone and cartilage growth. These disorders are diagnosed based on radiographic, clinical, and molecular criteria. However, the diagnostics is challenging due to clinical and genetic heterogeneity. We present the experience of systematic use of comprehensive genetic testing in the national health system and the molecular epidemiology of SD in Slovenia. Methods: We retrospectively reviewed 470 patients with clinical features of SD, including prenatal, childhood, and adult patients referred for diagnostic genetic evaluation to the national genetic reference center over ten years. In 262 patients, whole exome or whole genome sequencing was performed, while direct gene sequencing was performed in 208 patients with a specific clinical diagnosis. Results: A definitive genetic diagnosis using NGS was achieved in 50% (n=131) of patients. Among the positive cases, 49.61% initially presented with a nonspecific diagnosis of SD, and genetic testing contributed to establishing the diagnosis. Moreover, we demonstrated high genetic heterogeneity in our SD cohort with 66 distinct causative genes, resulting in different types of SD. In detail, we detected 132 causative variants, of which 29 were novel, which expanded the mutational spectrum of SD. Furthermore, pathogenic copy number variants (CNVs) were identified in 4.55% of the total number of variants, highlighting the importance of CNV analysis in expanding the yield of molecular diagnosis of SD. Conclusion: With the systematic use of WES and WGS, we have significantly improved the diagnostic yield of SD in the national health system and access to genetic testing. Moreover, we found significant genetic heterogeneity, and we report the genetic epidemiology of SD in the Slovenian population.
Keywords: CNV, copy number variants, NGS, next-generation sequencing, diagnostic yield, molecular pathology, prenatal diagnosis, rare genetic diseases, skeletal dysplasia
Published in DiRROS: 10.11.2025; Views: 178; Downloads: 88
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Abstract: Medium- and high-entropy alloys (MEAs and HEAs) are the basis of unique electrocatalysts for hydrogen-evolution reactions (HERs) due to their tunable chemical compositions and microstructures. Here, various Cantor MEAs (CoFeNi, CoFeNiMn, CoFeNiCr) and a HEA (CoFeNiMnCr) made up of affordable non-noble transitional metals with different structures (primary matrix and secondary phases, grain sizes, lattice parameters) were successfully synthesized with an inert-gas melting process. A close correlation was established between their physicochemical properties (elemental composition, microstructure, crystal structure) and the hydrogen-binding ability of the elements in the alloy on the electrocatalytic HER activity and stability in alkaline and acidic media. Advanced performances of electrocatalysts toward HERs were revealed in a specially designed electrochemical cell. Effectively identifying these electrocatalytic trends lays the groundwork for the strategic design of multi-component alloy electrocatalysts for practical HERs.
Keywords: water-spliting, hydrogen-binding energy, medium-entropy alloys, high-entropy alloys, spillover effect
Published in DiRROS: 10.11.2025; Views: 200; Downloads: 90
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Abstract: Background: Acute myocarditis (AM) affects myocardial structure and function, assessed by cardiac magnetic resonance late gadolinium enhancement (CMR-LGE) and speckle tracking echocardiography (STE), respectively; however, the correlation between the two techniques at the segmental level is inconsistent. We studied natural heterogeneity and anatomical orientation mismatch as potential causes of correlation discrepancy. Methods: A total of 30 AM patients underwent left ventricle LGE-CMR and STE measurement, acquiring 18 segmental values depicting edema extent and peak longitudinal strain, respectively. Baseline segmental correlation was compared to average patient segmental correlation and to segmental correlation after spatial resolution reduction achieved by averaging adjacent segments in four successive iterations, where the degree of spatial resolution reduction was evaluated based on the relative decrease in segmental standard deviation. Results: Baseline segmental correlation was weak, i.e., r = 0.24 (p < 0.05) but improved in fitted SLGE and SpLS baseline correlation (r0 = 0.44, p < 0.05) and in average patient correlation (r = 0.55, p < 0.05). Iterative spatial resolution reduction increased the correlation to r1 = 0.49 and r2 = 0.51 and then decreased it to r3 = 0.11 (p < 0.05) and r4 = 0.07 (p > 0.05), with corresponding decreases in segmental standard deviation relative to baseline from σ0 = 12.87 to σ/σ0 = 0.68, 0.51, 0.38, and 0.29 in SLGE values and σ0 = 4.77 to σ/σ0 = 0.57, 0.41, 0.31, and 0.23 in SpLS. Conclusions: Improved correlation in average patients is associated with natural heterogeneity, which indicates a need to develop more robust indicators of ventricular function. The improved correlation in moderate spatial resolution reduction indicates a potential solution for anatomic orientation mismatch between CMR-LGE and STE techniques.
Keywords: acute myocarditis, anatomical orientation mismatch, cardiac magnetic resonance, late gadolinium enhancement, natural heterogeneity, segmental peak systolic strain, spatial resolution reduction, speckle tracking echocardiography
Published in DiRROS: 10.11.2025; Views: 173; Downloads: 83
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Abstract: The hydrophobic character of rice seeds protects them from quick water adsorption and, thus, premature germination. This property is, however, a drawback in modern agriculture, where rapid and uniform germination represents a high-quality trait. A method for rapid hydrophilization of the Lomello variety of rice is presented. The rice seeds were treated with low-pressure gaseous plasma to tailor the wettability. The treatment of seeds with hulls with oxygen plasma afterglow enabled the super-hydrophilic surface finish within 10 ms. Such extremely fast hydrophilization was attributed to irreversible surface oxidation by neutral oxygen atoms whose flux onto the seeds was approximately 3 × 1023 m−2s−1. Dehulled seeds were made super-hydrophilic by subsequent treatments with hydrogen and oxygen plasma, and the required dose of O atoms was between 2 × 1023 and 6 × 1024 m−2. Larger doses caused a loss of the super-hydrophilicity. Hydrophilization kinetics is proposed and supported by measuring surface wettability, morphology, and composition using various techniques. The hydrophobic recovery of seeds with hulls is marginal within the first few days after plasma treatments, but dehulled seeds lose the super-hydrophilic surface finish within a few minutes after the plasma treatment when stored at ambient conditions.
Keywords: rice seed, water adsorption, surface treatment, wettability, super-hydrophilicity
Published in DiRROS: 10.11.2025; Views: 176; Downloads: 88
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Published in DiRROS: 10.11.2025; Views: 163; Downloads: 76
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