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442. The role of preconception parental health on embryo quality - preliminary results of a prospective study using non-invasive preimplantation genetic testing for aneuploidyMaja Tomic, Eda Vrtačnik-Bokal, Martin Štimpfel, 2025, izvirni znanstveni članek Povzetek: In this study, we aimed to correlate embryonic ploidy status studied with non-invasive preimplantation genetic testing for aneuploidy with the basic patient characteristics of the infertile couple to gain insight into the effects of parental physical health on embryo ploidy. We recruited 131 couples, who were stratified into 4 groups based on female age. We gathered general patient characteristics of the couple and determined the female’s hormonal status. We included 316 embryos in our study. Embryos were either transferred in the uterus in a fresh cycle or vitrified for later use. We collected spent embryo culture medium on either day 5 or 6 and performed whole genome amplification before using Next Generation Sequencing. Pregnancy outcomes were noted and cross-referenced with patient characteristics and the embryo’s ploidy status in a retrospective manner. While we have indirectly observed a level of maternal contamination, we nevertheless found a significant correlation between embryo ploidy status and cell free deoxyribonucleic acid concentration in spent embryo culture, as well a correlation between female age and embryo ploidy status. We observed a significant correlation between male body mass index and cell free deoxyribonucleic acid concentration in spent embryo culture medium and between male body mass index and pregnancy outcome. We illustrated a connection between male body mass index and cell free deoxyribonucleic acid, independent of female markers. This is the first study to observe not only female but male parameters in correlation to cell free deoxyribonucleic acid.
Ključne besede: non-invasive preimplantation genetic testing, aneuploidy, next-generation sequencing, embryo ploidy, male weight, female age, body mass index
Objavljeno v DiRROS: 26.11.2025; Ogledov: 118; Prenosov: 63
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445. Effect of tirzepatide-induced weight loss on adipose tissue in obesity : rationale and design of the randomized placebo-controlled Tirzepatide Brown and Beige Adipose Tissue Activation (TABFAT) trialRok Herman, Mojca Jensterle Sever, Simon Horvat, Luka Ležaič, Žiga Snoj, Igor Pušnik, Katja Goričar, Andrej Cör, Luka Pušnik, Vid Mlačnik, Lara Hanželič, Andrej Janež, 2025, izvirni znanstveni članek Povzetek: Background Obesity is a complex disease marked by excessive, dysfunctional adipose tissue accumulation. Recent research underscores the pivotal role of brown adipose tissue (BAT) in metabolic health and its potential as a thera- peutic target for obesity management. Emerging preclinical and clinical evidence suggests that second-generation anti-obesity drugs, especially dual agonists such as tirzepatide, may enhance BAT activity. Additionally, beige adipose tissue, derived from white adipose tissue (WAT), may contribute significantly to whole-body thermogenesis, yet its role remains underexplored. Methods This investigator-initiated, randomized, placebo-controlled clinical trial aims to evaluate the effects of tirzepatide on BAT activity and WAT browning in premenopausal women with obesity. Thirty-four participants will be randomized 1:1 to receive either tirzepatide or a placebo for 24 weeks. Primary outcomes include changes in BAT volume and activity, assessed using 18F-FDG-PET/CT, MRI, and infrared thermography, as well as the induction of WAT browning, evaluated through changes in mRNA expression patterns and histomorphometric alterations in subcuta- neous adipose tissue samples. Secondary outcomes will involve the assessment of whole-body composition, resting energy expenditure, and various metabolic health markers, correlated with thermogenic adipose tissue changes. Comparative analysis of BAT assessment methods will refine protocols for research and clinical use. Discussion This study is the first to systematically explore the potential of pharmacological obesity management to enhance BAT activity and induce WAT browning. Results may establish thermogenic adipose tissue augmentation as a novel mechanism of action for second-generation anti-obesity medications.
Ključne besede: brown adipose tissue, beige adipose tissue, pancreas resection, tirzepatide, obesity
Objavljeno v DiRROS: 26.11.2025; Ogledov: 134; Prenosov: 78
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447. Edge and defect effects on charge distribution in collapsed ▫$MoS_2$▫ nanotubesMatjaž Malok, Janez Jelenc, Anja Pogačnik Krajnc, Maja Remškar, 2025, izvirni znanstveni članek Povzetek: Molybdenum disulfide (MoS2) has emerged as a promising material for next-generation electronics and optoelectronic devices. MoS2 nanotubes (NTs) and their collapsed ribbon-like shapes (collapsed NTs) synthesized via chemical vapour transport (CVT) under chemical equilibrium typically exhibit low structural defect densities. However, defects and surface damage can arise during device fabrication or operation, leading to a significant degradation in performance, stability, and operational lifetime. These imperfections also induce hysteresis, which adversely affects the device switching behaviour. While the influence of charge trapping at the MoS2/substrate interfaces, on the MoS2 surface, and at intrinsic defects, such as sulfur vacancies and dangling bonds, on device performance has been extensively studied, MoS2 NTs, with their unique curved morphology, introduce additional charge-trapping mechanisms not observed in planar MoS2 structures. In this work, a combination of scanning tunnelling microscopy (STM), Kelvin probe force microscopy (KPFM), and conductive atomic force microscopy (cAFM) was employed to examine how structural irregularities, including terminated layers, surface-grown flakes or NTs, and highly strained areas, affect charge injection, redistribution, and the resulting effects on electrical characteristics in collapsed NTs. The results reveal that structural defects act as charge traps, scattering centres, and transport barriers, giving rise to a reduced carrier mobility, localized charge accumulation, and spatially inhomogeneous charge distribution. These findings underscore the crucial role of structural and electrical characterization with nanoscale resolution in the design of defecttolerant, high-performance devices based on transition metal dichalcogenides (TMDs)
Ključne besede: nanoscale characterization, structural defects, charge trapping, nanotubes
Objavljeno v DiRROS: 26.11.2025; Ogledov: 118; Prenosov: 35
Celotno besedilo (1,00 MB) |
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450. Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndromeNina Žakelj, David Gosar, Špela Miroševič, Stephan Sanders, Alicia Ljungdhal, Sayeh Kohani, Shouhe Huang, Roman Jerala, Duško Lainšček, Vida Forstnerič, Petra Sušjan, Jasna Oražem, Damjan Osredkar, 2025, izvirni znanstveni članek Povzetek: CTNNB1 neurodevelopmental syndrome is a rare disorder caused by de novo heterozygous variants in the CTNNB1 gene encoding β-catenin. This study aims to characterize genetic variants in individuals with CTNNB1 neurodevelopmental syndrome, systematically assess the spectrum of clinical phenotypes using standardized measures and explore potential genotype-phenotype correlations. In this cross-sectional cohort study, individuals diagnosed with CTNNB1 neurodevelopmental syndrome underwent structured interviews using standardized scales to evaluate motor skills, speech, communication, feeding abilities, visual function, neurodevelopment, and psychopathology. Genetic variants were analyzed, and in a subset of cases, the impact of β-catenin variants on the Wnt/β-catenin signaling pathway was assessed. Across the 127 included participants (mean age: 70 months; range: 7–242 months) from 20 countries, we identified 88 different variants of the CTNNB1 gene, 87 of which were predicted to lead to loss of CTNNB1 function. Functional assays demonstrated reduced Wnt signaling activity, including 11 variants that also exhibited a dominant-negative effect. One missense variant demonstrated a gain-of-function effect. Dominant-negative variants were not clearly associated with a distinct phenotype, however, those with missense variants presented a milder phenotype, including earlier achievement of independent walking, fewer motor impairments, better conceptual and social skills, improved communication, and fewer feeding difficulties. This study describes genetic, functional, and phenotypic characteristics in individuals with CTNNB1 neurodevelopmental syndrome. Further investigation into the genotypic and phenotypic characteristics of this syndrome and their interrelationships is essential to deepen our understanding of the disorder and inform the development of targeted therapies.
Ključne besede: CTNNB1 neurodevelopmental syndrome, β-catenin, genotype, phenotype, genotype-phenotype correlations
Objavljeno v DiRROS: 26.11.2025; Ogledov: 197; Prenosov: 73
Celotno besedilo (2,95 MB)
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