Search Results (9,237)

Congenital cataracts (CCs) are a leading cause of preventable childhood blindness, with genetic factors playing a crucial role in their etiology. Nance–Horan syndrome (NHS) is a rare X-linked dominant disorder associated with CCs but is often underdiagnosed due to variable expressivity, particularly in female carriers. Objective: This study aimed to explore the genetic landscape of CCs in a Swiss cohort, focusing on two novel NHS and one novel GJA8 variants and their phenotypic presentation. Methods: Whole-exome sequencing (WES) was conducted on 20 unrelated Swiss families diagnosed with CCs. Variants were analyzed for pathogenicity using genetic databases, and segregation analysis was performed. Clinical data, including cataract phenotype and associated systemic anomalies, were assessed to establish genotype–phenotype correlations. Results: Potentially pathogenic DNA sequence variants were identified in 10 families, including three novel variants, one in GJA8 (c.584T>C) and two NHS variants (c.250_252insA and c.484del). Additional previously reported variants were detected in CRYBA1, CRYGC, CRYAA, MIP, EPHA2, and MAF, reflecting genetic heterogeneity in the cohort. Notably, NHS variants displayed significant phenotypic variability, suggesting dose-dependent effects and X-chromosome inactivation in female carriers. Conclusions: NHS remains underdiagnosed due to its variable expressivity and the late manifestation of systemic features, often leading to misclassification as isolated CC. This study highlights the importance of genetic testing in unexplained CC cases to improve early detection of syndromic forms. The identification of novel NHS and GJA8 variants provides new insights into the genetic complexity of CCs, emphasizing the need for further research on genotype–phenotype correlations. Full article

Catalytic and bioelectrocatalytic properties of four white rot fungal laccases (Trametes hirsuta, ThL; Coriolopsis caperata, CcL; Steccherinum murashkinskyi, SmL; and Antrodiella faginea, AfL) from different orthologous groups were comparatively studied in homogeneous reactions of electron donor substrate oxidation and in a heterogeneous reaction of dioxygen electroreduction. The ThL and CcL laccases belong to high-redox-potential enzymes (E⁰_T1 = 780 mV), while the AfL and SmL laccases are medium-redox-potential enzymes (E⁰_T1 = 620 and 650 mV). We evaluated the efficiency of laccases in mediatorless bioelectrocatalytic dioxygen reduction by the steady-state potential (E_ss), onset potential (E_onset), half-wave potential (E_1/2), and the slope of the linear segment of the polarization curve. A good correlation was observed between the T1 center potential of the laccases and their electrocatalytic characteristics; however, no correlation with the homogeneous reactions of electron donor substrates’ oxidation was detected. The results obtained are discussed in the light of the known data on the three-dimensional structures of the laccases studied. Full article

Equestrian sports play a significant economic role in the horse industry. In recent years, numerous equine viruses have emerged, among which are equine Pegiviruses and the re-emerging Equine coronavirus (ECoV). These viruses are distributed globally and primarily cause subclinical infections with unknown morbidity, even if ECoV can occasionally induce febrile and diarrheic episodes. To broaden the data on the Italian equine population, a study was conducted to assess their prevalence in two distinct horse populations belonging to the Carabinieri Corps (CC) and the Italian Army (IA) of the Italian Armed Forces (IAF). Samples consisted of blood serum and rectal swabs of 436 horses collected within the national surveillance program for equine infectious anemia and gastrointestinal parasite monitoring and analyzed for Pegivirus (caballi and equi) and ECoV by Real-Time RT PCR. The prevalence detected were 6.56% and 3.53%, respectively, for Pegivirus caballi and equi for the IA, while for the CC, they were 10.13% and 0.84%. Only one sample tested positive for ECoV belonging to a horse of the CC. Phylogenetic analyses were carried out on the PCR-positive samples that were sequenced using Sanger protocols. Understanding the epidemiology of these viruses is essential for evaluating the implementation of effective prevention strategies. Full article

The objective of this study was to evaluate the physical-hydric properties of a Planosol under an Integrated Crop–Livestock–Forest (ICLF) system in the Agreste region of Paraíba, Brazil, after eight years of implementation, and to compare them with areas under a conventional cropping system and secondary native vegetation. The experiment was conducted at the experimental station located in Alagoinha, in the Agreste mesoregion of the State of Paraíba, Brazil. The experimental design adopted was a randomized block design (RBD) with five treatments and four replications (5 × 4 + 2). The treatments consisted of: (1) Gliricidia (Gliricidia sepium (Jacq.) Steud) + Signal grass (Urochloa decumbens) (GL+SG); (2) Sabiá (Mimosa caesalpiniaefolia Benth) + Signal grass (SB+SG); (3) Purple Ipê (Handroanthus avellanedae (Lorentz ex Griseb.) Mattos) + SG (I+SG); (4) annual crop + SG (C+SG); and (5) Signal grass (SG). Two additional treatments were included for statistical comparison: a conventional cropping system (CC) and a secondary native vegetation area (NV), both located near the experimental site. The CC treatment showed the lowest bulk density (1.23 g cm⁻³) and the lowest degree of compaction (66.3%) among the evaluated treatments, as well as a total porosity (TP) higher than 75% (0.75 m³ m⁻³). In the soil under the integration system, the lowest bulk density (1.38 g cm⁻³) and the highest total porosity (0.48 m³ m⁻³) were observed in the SG treatment at the 0.0–0.10 m depth. High S-index values (>0.035) and a low relative field capacity (RFc < 0.50) and K_θ indicate high structural quality and low soil water storage capacity. It was concluded that the SG, I+SG, SB+SG, and CC treatments presented the highest values of soil bulk and degree of compaction in the layers below 0.10 m. The I+SG and C+SG treatments showed the lowest hydraulic conductivities and macroaggregation. The SG and C+SG treatments had the lowest available water content and available water capacity across the three analyzed soil layers. Full article

Minimizing carbon dioxide emissions is crucial due to the generation of energy from fossil fuels. The significance of carbon capture and storage (CCS) technology, which is highly successful in mitigating carbon emissions, has increased. On the other hand, hydrogen is an important energy carrier for storing and transporting energy, and technologies that rely on hydrogen have become increasingly promising as the world moves toward a more environmentally friendly approach. Nevertheless, the integration of CCS technologies into power production processes is a significant challenge, requiring the enhancement of the combined power generation–CCS process. In recent years, there has been a growing interest in process intensification (PI), which aims to create smaller, cleaner, and more energy efficient processes. The goal of this research is to demonstrate the process intensification potential and to model and simulate a hybrid integrated–intensified adsorptive-membrane reactor process for simultaneous carbon capture and hydrogen production. A comprehensive, multi-scale, multi-phase, dynamic, computational fluid dynamics (CFD)-based process model is constructed, which quantifies the various underlying complex physicochemical phenomena occurring at the pellet and reactor levels. Model simulations are then performed to investigate the impact of dimensionless variables on overall system performance and gain a better understanding of this cyclic reaction/separation process. The results indicate that the hybrid system shows a steady-state cyclic behavior to ensure flexible operating time. A sustainability evaluation was conducted to illustrate the sustainability improvement in the proposed process compared to the traditional design. The results indicate that the integrated–intensified adsorptive-membrane reactor technology enhances sustainability by 35% to 138% for the chosen 21 indicators. The average enhancement in sustainability is almost 57%, signifying that the sustainability evaluation reveals significant benefits of the integrated–intensified adsorptive-membrane reactor process compared to HTSR + LTSR. Full article

Considering the challenges posed by traditional continuous control set model predictive control (CCS-MPC) calculations, this paper proposes an event-triggered-based model predictive control (ET-MPC). First, a novel tracking error state-space model is proposed to improve tracking performance. Second, a reduced-order extended state observer (RESO) is designed to estimate and compensate for the total disturbances, thereby effectively improving robustness against the variations of the load resistance and reference voltage. At the same time, RESO significantly reduces computational complexity and accelerates the convergence speed of state estimation. Subsequently, an event trigger mechanism is introduced to enhance the MPC with a threshold function for the converter status. Finally, the reduced-order extended state observer-based model predictive control (RESO-MPC) is compared with the proposed ET-MPC through experiments. The ripple voltage of ET-MPC is within 2%, and the computational burden is reduced by more than 57%, verifying the effectiveness of the proposed ET-MPC. Full article

Wool has distinctive biological, physical, and chemical properties that contribute to its value both for the sheep and in global fibre and textile markets. Its fibres are primarily composed of proteins, principally keratin and keratin-associated proteins (KAPs). To better comprehend the genes that underpin key wool traits, this study examined the keratin-associated protein 36-1 gene (KRTAP36-1) in Chinese Tan lambs. We identified three previously reported alleles of the gene (named A, B and C) that were present in the lambs studied, with genotype frequencies as follows: 2.0% (n = 5; AA), 6.9% (n = 17; AB), 13.8% (n = 34; AC), 8.9% (n = 22; BB), 33.4% (n = 82; BC) and 35.0% (n = 86; CC). The frequencies of the individual alleles in the Chinese Tan lambs were 12.4%, 29.1% and 58.5% for alleles A, B and C, respectively. The three alleles were in Hardy–Weinberg Equilibrium. In an association analysis, it was revealed that allele C was associated with variation in the mean fibre curvature of the fine wool of the Chinese Tan lambs, but this association was not observed in their heterotypic hair fibres. This finding suggests that KRTAP36-1 might be differentially expressed in the wool follicles that produce the two fibre types, and that along with other KRTAP genes, it may be involved in determining fibre curvature and the distinctive curly coat of the lambs. Full article

In chili cultivation, obstacles to continuous cropping significantly compromise crop yield and soil health, whereas crop rotation can enhance the microbial environment of the soil and reduce disease incidence. However, its effects on the diversity of rhizosphere soil microbial communities are not clear. In this study, we analyzed the composition and characteristics of rhizosphere soil microbial communities under chili continuous cropping (CC) and chili–cotton crop rotation (CR) using high-throughput sequencing technology. CR treatment reduced the alpha diversity indices (including Chao1, Observed_species, and Shannon index) of bacterial communities and had less of an effect on fungal community diversity. Principal component analysis (PCA) revealed distinct compositional differences in bacterial and fungal communities between the treatments. Compared with CC, CR treatment has altered the structure of the soil microbial community. In terms of bacterial communities, the relative abundance of Firmicutes increased from 12.89% to 17.97%, while the Proteobacteria increased by 6.8%. At the genus level, CR treatment significantly enriched beneficial genera such as RB41 (8.19%), Lactobacillus (4.56%), and Bacillus (1.50%) (p < 0.05). In contrast, the relative abundances of Alternaria and Fusarium in the fungal community decreased by 6.62% and 5.34%, respectively (p < 0.05). Venn diagrams and linear discriminant effect size analysis (LEfSe) further indicated that CR facilitated the enrichment of beneficial bacteria, such as Bacillus, whereas CC favored enrichment of pathogens, such as Firmicutes. Fusarium solani MG6 and F. oxysporum LG2 are the primary chili root-rot pathogens. Optimal growth occurs at 25 °C, pH 6: after 5 days, MG6 colonies reach 6.42 ± 0.04 cm, and LG2 5.33 ± 0.02 cm, peaking in sporulation (p < 0.05). In addition, there are significant differences in the utilization spectra of carbon and nitrogen sources between the two strains of fungi, suggesting their different ecological adaptability. Integrated analyses revealed that CR enhanced soil health and reduced the root rot incidence by optimizing the structure of soil microbial communities, increasing the proportion of beneficial bacteria, and suppressing pathogens, providing a scientific basis for microbial-based soil management strategies in chili cultivation. Full article

In the context of achieving low-carbon goals, building low-carbon energy systems is a crucial development direction and implementation pathway. Renewable energy is favored because of its clean characteristics, but the access may have an impact on the power grid. Microgrid technology provides an effective solution to this problem. Uncertainty exists in single microgrids, so multiple microgrids are introduced to improve system stability and robustness. Electric carbon trading and profit redistribution among multiple microgrids have been challenges. To promote energy commensurability among microgrids, expand the types of energy interactions, and improve the utilization rate of renewable energy, this paper proposes a cooperative operation optimization model of multi-microgrids based on the green certificate and carbon trading mechanism to promote local energy consumption and a low carbon economy. First, this paper introduces a carbon capture system (CCS) and power-to-gas (P2G) device in the microgrid and constructs a cogeneration operation model coupled with a power-to-gas carbon capture system. On this basis, a low-carbon operation model for multi-energy microgrids is proposed by combining the local carbon trading market, the stepped carbon trading mechanism, and the green certificate trading mechanism. Secondly, this paper establishes a cooperative game model for multiple microgrid electricity carbon trading based on the Nash negotiation theory after constructing the single microgrid model. Finally, the ADMM method and the asymmetric energy mapping contribution function are used for the solution. The case study uses a typical 24 h period as an example for the calculation. Case study analysis shows that, compared with the independent operation mode of microgrids, the total benefits of the entire system increased by 38,296.1 yuan and carbon emissions were reduced by 30,535 kg through the coordinated operation of electricity–carbon coupling. The arithmetic example verifies that the method proposed in this paper can effectively improve the economic benefits of each microgrid and reduce carbon emissions. Full article

In the last decades, numerous approaches have been explored for the cross-coupling of biaryl building blocks depending on the presence of boron sources. In fact, these changes have been catalyzed by transition metal complexes. This review focuses on the progress of the last decade in transition metal-catalyzed C–X borylation and direct C–H borylation, with emphasis on nickel-catalyzed C–H borylation, as effective and affordable protocols for the borylation of aryl substrates. In addition, Suzuki-type cross-coupling by activation of C–H, C–C, or C–N bonds is also reported. This study then offers an overview of recent advances for the synthesis of bi- and multi-aryls found in synthetic molecular complexes and natural products using the transition metal-catalyzed one-pot Miyaura-type C–X and C–H borylation–Suzuki coupling sequence. Full article

Background/Objectives: Low folate intake before and during pregnancy increases the risk of neural tube defects and other adverse outcomes. Gene variants such as MTHFR 677C>T (rs1801133) may increase risks associated with suboptimal folate intake. Our objective was to use BALB/cJ Mthfr^677C>T mice to evaluate the effects of the TT genotype and low folate diets on embryonic development and MTHFR protein expression in pregnant mice. Methods: Female 677CC (mCC) and 677TT (mTT) mice were fed control (2 mg folic acid/kg (2D)), 1 mg folic acid/kg (1D) and 0.3 mg folic acid/kg (0.3D) diets before and during pregnancy. Embryos and maternal tissues were collected at embryonic day 10.5. Embryos were examined for developmental delays and defects. Methyltetrahydrofolate (methylTHF) and total homocysteine (tHcy) were measured in maternal plasma, and MTHFR protein expression was evaluated in maternal liver. Results: MethylTHF decreased due to the experimental diets and mTT genotype. tHcy increased due to 0.3D and mTT genotype; mTT 0.3D mice had significantly higher tHcy than the other groups. MTHFR expression was lower in mTT liver than mCC. MTHFR protein expression increased due to low folate diets in mCC mice, whereas in mTT mice, MTHFR expression increased only due to 1D. Developmental delays were increased in the litters of mTT mice fed 1D and 0.3D. Conclusions: The Mthfr^677C>T mouse models the effects of the MTHFR 677TT genotype in humans and provides a folate-responsive model for examination of the effects of folate intake and the MTHFR 677C>T variant during gestation. Full article

It is crucial to clarify the grassland carrying capacity (CC) and the balance between grass and livestock under different scenarios for ecological protection and sustainable development in the Three River Headwaters Region (TRHR). This study focused on the TRHR and used livestock data, MODIS Net Primary Productivity (NPP) data, and artificial supplementary feeding data to analyze grassland CC and explore changes in the grass–livestock balance across various scenarios. The results showed that the theoretical CC of edible forage under complete grazing conditions was much lower than that of crude protein under nutritional carrying conditions. Furthermore, without increasing the grazing intensity of natural grasslands, artificial supplementary feeding reduced overstocking areas by 21%. These results suggest that supplementary feeding effectively addresses the imbalance between forage supply and demand, serving as a key measure for achieving sustainable grassland livestock husbandry. Despite the effective mitigation of grassland degradation in the TRHR due to strict grass–livestock balance policies and ecological restoration projects, the actual livestock CC exceeded the theoretical capacity, leading to overgrazing in some areas. To achieve desired objectives, more effective grassland management strategies must be implemented in the future to minimize spatiotemporal conflicts between grasses and livestock and ensure the health and stability of grassland ecosystems. Full article

Background/Objectives: Variations in hair length are observed in many dog breeds, as determined by the canine FGF5 gene. Long-haired Akitas, which are disqualified under breeding standards of Akitas, are sometimes born to short-haired parents and may have been subjected to treatments compromising animal welfare. Here, we aimed to identify an FGF5 variant associated with hair coat variations in Akitas in Japan, and to assess how welfare of this breed can be improved by carefully planned breeding. Methods: DNA samples were obtained from 60 Akitas in 2021 (modern Akitas) and 73 Akitas in the 1970s and the 1980s (classic Akitas). Sanger sequencing was performed on all exons and exon–intron junctions of the FGF5 gene to determine the causative variant of long hair in Akitas. A real-time PCR assay was developed to genotype FGF5:c.578C>T in modern and classic Akitas. Using 54 dogs from modern Akitas, scores (1 to 10) of hair length were compared among the three genotypes (C/C, C/T, and T/T). Results: Sanger sequencing revealed that the canine FGF5:c.578C>T variant was associated with long hair in Akitas in Japan. Genotyping revealed that the frequency of the mutant T allele was 0.350 in modern Akitas, which was significantly higher (p < 0.001) than in classic Akitas (0.212). The three genotypes were not in Hardy–Weinberg equilibrium (HWE) in modern Akitas but were in HWE in classic Akitas. There were significant differences in hair length scores among the three genotypes (p < 0.001) and between the C/C and C/T genotypes (p < 0.005). There was no significant difference in the scores between male and female dogs. Conclusions: This study revealed that a causative variant that determines the long hair trait of Akitas in Japan was the FGF5:c.578C>T variant, which was inherited in an incompletely dominant manner. Akita dog breeders were more likely to select heterozygous C/T dogs based on the appearance of the hair coat for breeding dogs with an ideal fluffy hair coat. This might result in a high mutant T allele frequency and the production of undesired long-haired Akitas with T/T, which may create welfare problems. Genetic testing for this variant is necessary to improve welfare and conserve the Akita breed. Full article

DFT calculations at the B3LYP/aug-cc-pVDZ level of theory on some aromatic substrates showed that in the HOMO (Highest Occupied Molecular Orbital) of nitrobenzene, the atomic coefficients are not in agreement with the meta-directing behavior of this compound. The atomic coefficients are the same in the ortho and in the meta positions. The HOMO (or NHOMO (Next Occupied Molecular Orbital) in the case of benzaldehyde) is not in agreement with the experimental results when deactivating, meta-orienting compounds are considered. Mulliken charges sometimes are not able to explain the observed reactivity. Hirshfeld charges allow us to predict the orientation of the attack of an electrophile on the aromatic ring, with the exception of nitrobenzene. Both HOMO atomic coefficients and charges are in agreement with the experimental results when deactivating, ortho-para orienting, and activating compounds are tested. Full article

As the scale of shipboard power systems expands, their vulnerability becomes increasingly prominent. Identifying vulnerable points in ship power grids is essential for enhancing system stability, optimizing overall performance, and ensuring safe navigation. To address this issue, this paper proposes an algorithm based on fuzzy local dimension and topology (FLDT). The algorithm distinguishes contributions from nodes at different radii and within the same radius to a central node using fuzzy sets, and then derives the final importance value of each node by combining the local dimension and topology. Experimental results on nine datasets demonstrate that the FLDT algorithm outperforms degree centrality (DC), closeness centrality (CC), local dimension (LD), fuzzy local dimension (FLD), local link similarity (LLS), and mixed degree decomposition (MDD) algorithms in three metrics: network efficiency (NE), largest connected component (LCC), and monotonicity. Furthermore, in a ship power grid experiment, when 40% of the most important nodes were removed, FLDT caused a network efficiency drop of 99.78% and reduced the LCC to 2.17%, significantly outperforming traditional methods. Additional experiments under topological perturbations—including edge addition, removal, and rewiring—also show that FLDT maintains superior performance, highlighting its robustness to structural changes. This indicates that the FLDT algorithm is more effective in identifying and evaluating vulnerable points and distinguishing nodes with varying levels of importance. Full article