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BACKGROUND: Bartter syndrome type 1, an autosomal recessive genetic disorder, is caused by pathogenic loss-of-function variants in the SLC12A1 gene. It is characterized by metabolic alkalosis and prenatal-onset polyuria leading to polyhydramnios. METHODS: We identified pathogenic gene in a 12-day-old newborn boy with Bartter syndrome type 1 using whole-exome sequencing. Sanger sequencing validated the identified variants. A minigene assay was performed to investigate the effect of a novel splice site variant on pre-mRNA splicing. RESULTS: We found a compound heterozygous variants in the SLC12A1 gene, consisting of a known pathogenic missense mutation (NM_000338: c.769 G>A; p.Gly257Ser) and a novel splice site variant (c.1684+1 G>A). In silico predictions and an in vitro minigene splicing assay demonstrated that the splicing variant c.1684+1 G>A abolished a consensus splice donor site of SLC12A1 intron 13, resulting in complete exon 13 skipping, translational frameshift, and premature termination codon, ultimately leading to loss of SLC12A1 function. CONCLUSION: Using a cell-based in vitro assay, we revealed the aberrant effect of the pathogenic splicing variant SLC12A1 c.1684+1 G>A on pre-mRNA splicing. Our findings expand the gene mutation spectrum of Bartter syndrome type 1, providing a basis for genetic diagnosis and the development of genetic medicines.

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RNA secondary structure (RSS) of primary microRNAs (pri-miRNAs) is a key determinant for miRNA production. Here we report that RNA helicase (RH) Brr2a, best known as a spliceosome component, modulates the structural complexity of pri-miRNAs to fine tune miRNA yield. Brr2a interacts with microprocessor component HYL1 and its loss reduces the levels of miRNAs derived from both intron-containing and intron-lacking pri-miRNAs. Brr2a binds to pri-miRNAs in vivo and in vitro. Furthermore, Brr2a hydrolyses ATP and the activity can be significantly enhanced by pri-miRNAs. Consequently, Brr2a unwinds pri-miRNAs in vitro. Moreover, Brr2a variants with compromised ATPase or RH activity are incapable of unwinding pri-miRNA, and their transgenic plants fail to restore miRNA levels in brr2a-2. Importantly, most of tested pri-miRNAs display distinct RSS, rendering them unsuitable for efficient processing in brr2a mutants vs Col-0. Collectively, this study reveals that Brr2a plays a non-canonical role in miRNA production beyond splicing regulation.

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Background: KIDINS220 encodes a transmembrane scaffold protein, kinase D-interacting substrate of 220 kDa, that regulates neurotrophin signaling. Variants in KIDINS220 have been linked to spastic paraplegia, intellectual disability, nystagmus, and obesity (SINO) syndrome or prenatal fatal cerebral ventriculomegaly and arthrogryposis (VENARG). This study aimed to investigate the genotype-phenotype correlation of pathogenic KIDINS220 variants. Methods: We performed whole-exome sequencing on a patient with SINO syndrome and epilepsy. Identified pathogenic variants were confirmed using Sanger sequencing and evaluated with in silico tools. A comprehensive literature review was conducted to analyze the genetic and phenotypic data of both the newly diagnosed patient and previously reported cases with KIDINS220 variants. Results: We identified novel compound heterozygous variants in KIDINS220, c.1556C > T (p.Thr519Met) and c.2374C > T (p.Arg792*), in the patient. Our analysis revealed that biallelic loss-of-function variants in KIDINS220 are associated with VENARG or autosomal recessive SINO (AR-SINO), whereas carboxy-terminal truncated variants that escape nonsense-mediated mRNA decay and lack amino acid residues 1507-1529 are linked to autosomal dominant SINO (AD-SINO). Patients with AR-SINO exhibit more severe clinical features compared to those with AD-SINO. Conclusions: Our study expands the spectrum of KIDINS220 variants associated with AR-SINO and provides a valuable genotype-phenotype correlation for pathogenic KIDINS220 variants.

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Objective: The aim of the study was to systematically evaluate the therapeutic effect of nurse-led telepsychological intervention on patients with postpartum depression. Methods: PubMed, Embase, CINAHL, Web of Science, the Cochrane Library, Chinese Biomedical Literature Database, China National Knowledge Infrastructure, Wanfang Database, and China VIP database were searched for articles on the effectiveness of remote psychological intervention in improving postpartum depression. The search time was limited from the establishment of the database to December 2023. The literature was screened, and data were extracted. The Cochrane risk of bias assessment tool was used to evaluate the quality of randomized controlled trials that met standards, and RevMan5.4 was used for meta-analysis. Results: A total of 14 studies involving 1765 patients from 9 countries were included. Meta-analysis results showed that compared with routine care, telepsychological intervention can alleviate maternal depression (Standard Mean Difference [SMD] = -0.60, 95% CI [-0.91, -0.29], I 2 = 88%, P < .01). Sensitivity and subgroup analyses revealed that 3 studies using the Edinburgh Postpartum Depression Scale evaluation tool were the source of heterogeneity in the meta-analysis. Conclusion: Telepsychological postpartum depression intervention can effectively improve postpartum depression, indicating that it has a certain clinical application value.

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Aging often accompanies cognitive and mood disturbances. Emerging evidence indicates that specific probiotics mitigate cognitive and mood dysfunctions. Strains within Lactococcus, a subgroup of probiotics, including Lactococcus lactis and Lactococcus cremoris are shown beneficial effects on brain functions via the gut microbiota-brain axis (GBA). Our previous study identified two Lactococcus strains (L. lactis WHH2078 and L. cremoris WHH2080) with the ability to promote the secretion of gut 5-hydroxytryptophan (5-HTP), the precursor of the GBA mediator 5-hydroxytryptamine (5-HT). In this study, the modulatory effects of WHH2078 and WHH2080 on cognitive and mood alternations were investigated in aged mice. Oral administration of WHH2078 and WHH2080 (1 × 109 CFU/mL/day) in aged mice (12-month-old) for 12 weeks significantly improved cognitive and depressive-and anxiety-like behaviors. The neuronal loss, the 5-HT metabolism dysfunction, and the neuroinflammation in the hippocampus of aged mice were restored by WHH2078 and WHH2080. the disturbances in the serum tryptophan metabolism in aged mice were unveiled by metabolomics, notably with decreased levels of 5-HT and 5-HTP, and increased levels of kynurenine, 3-hydroxykynurenine, and indolelactic acid, which were reversed by WHH2078 and WHH2080. Regarding the gut microbial community, WHH2078 and WHH2080 restored the increased abundance of Firmicutes, Desulfobacterota, and Deferribacterota and the decreased abundance of Bacteroidota and Actinobacteriota in aged mice. The beneficial effects of the two strains were linked to the modulation of 5-HT metabolism and gut microbiota. Our findings point to the potential role of Lactococcus strains with 5-HTP-promoting abilities as therapeutic approaches for age-related cognitive and mood disorders.

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Introduction: Verticillium dahliae causes a devastating Verticillium wilt disease on hundreds of plant species worldwide, including cotton. Understanding the interaction mechanism between V. dahliae and its hosts is the prerequisite for developing effective strategies for disease prevention. Methods: Here, based on the previous observation of an xylosidase-encoding gene (VdxyL3) in V. dahliae being obviously up-regulated after sensing root exudates from a cotton variety susceptible to this pathogen, we investigated the function of VdxyL3 in the growth and pathogenesis of V. dahliae by generating its deletion-mutant strains (ΔVdxyL3). Results: Deleting VdxyL3 led to increased colony expansion rate, conidial production, mycelial growth, carbon and nitrogen utilization capacities, and enhanced stress tolerance and pathogenicity of V. dahliae. VdxyL3 is a secretory protein; however, VdxyL3 failed to induce cell death in N. benthamiana based on transient expression experiment. Transcriptomic analysis identified 1300 genes differentially expressed (DEGs) between wild-type (Vd952) and ΔVdxyL3 during infection, including 348 DEGs encoding secretory proteins, among which contained 122 classical secreted proteins and 226 non-classical secreted proteins. It was notable that of the 122 classical secretory proteins, 50 were carbohydrate-active enzymes (CAZymes) and 58 were small cysteine rich proteins (SCRPs), which were required for the pathogenicity of V. dahliae. Conclusion: The RNA-seq data thus potentially connected the genes encoding these proteins to the pathogenesis of V. dahliae. This study provides an experimental basis for further studies on the interaction between V. dahliae and cotton and the pathogenic mechanism of the fungus.

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The assembly and patterning engineering in two-dimensional (2D) materials hold importance for chip-level designs incorporating multifunctional detectors. At present, the patterning and stacking methods of 2D materials inevitably introduce impurity instability and functional limitations. Here, the space-confined chemical vapor deposition method is employed to achieve state-of-the-art kirigami structures of self-assembled WS2, featuring various layer combinations and stacking configurations. With this technique as a foundation, the WS2 nano-kirigami is integrated with metasurface design, achieving a photodetector with bidirectional polarization-sensitive detection capability in the infrared spectrum. Nano-kirigami can eliminate some of the uncontrollable factors in the processing of 2D material devices, providing a freely designed platform for chip-level multifunctional detection across multiple modules.

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CO2 capture and sequestration based on hydrate technology are considered supplementary approaches for reducing carbon emissions and mitigating the greenhouse effect. Direct CO2 hydrate formation and CH4 gas substitution in natural gas hydrates are two of the main methods used for the sequestration of CO2 in hydrates. In this Review, we introduce the crystal structures of CO2 hydrates and CO2-mixed gas hydrates and summarize the interactions between the CO2 molecules and clathrate hydrate/H2O frames. In particular, we focus on the role of diffraction techniques in analyzing hydrate structures. The kinetic and thermodynamic properties then are introduced from micro/macro perspectives. Furthermore, the replacement of natural gas with CO2/CO2-mixed gas is discussed comprehensively in terms of intermolecular interactions, influencing factors, and displacement efficiency. Based on the analysis of related costs, risks, and policies, the economics of CO2 capture and sequestration based on hydrate technology are explained. Moreover, the difficulties and challenges at this stage and the directions for future research are described. Finally, we investigate the status of recent research related to CO2 capture and sequestration based on hydrate technology, revealing its importance in carbon emission reduction.

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Solar steam generation (SSG) is a promising technique that may find applications in seawater desalination, sewage treatment, etc. The core component for SSG devices is photothermal materials, among which biomass-derived carbon materials have been extensively attempted due to their low cost, wide availability, and diversified microstructures. However, the practical performance of these materials is not satisfactory because of the multifaceted structural requirements for photothermal materials in SSG scenarios. In this work, cactus stems, which possess abundant and multiscaled pores for simultaneous sunlight gathering and water evaporation, are applied as the photothermal structure for SSG devices after mild heat treatment. Consequently, the SSG device based on the carbonized cactus stems delivers high performance (an absorption rate of 93.7% of the solar spectrum, an evaporation rate of 2.02 kg m-2 h-1, and an efficiency of 91.4% under one solar irradiation). We anticipate that the material can be a potential candidate for efficient SSG devices and may shed light on the sustainable supply of water.

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In this study, hydrochars were prepared at varying temperatures with distinct mixing ratio, and then the hydrochars were characterized and evaluated for heavy metals to ascertain its potential as a soil conditioner. The application of elevated temperatures resulted in a reduction in the yield of hydrochars, whereas the incorporation of coffee grounds led to an increase in the yield. The blended hydrochar displays elevated ash, fixed carbon, and diminished H/C, O/C, and (O + N)/C ratios, indicating enhanced stability in soil treatment and potential for enhanced soil fertility. The application of hydrothermal carbonization facilitated the stabilization of heavy metals within the sewage sludge, with the stabilizing effect being enhanced by the addition of coffee grounds. Following the application of SCC as a soil conditioner to the heavy metal-contaminated soil for a period of 90 days, it was observed that the heavy metals Cu, Cr, and Ni present in the contaminated soil underwent a transition from an unstable to a stable speciation. Of the treatments tested, AK15 was identified as the most effective, demonstrating a significant reduction in the risk of leaching and biotoxicity associated with Cu, Cr, and Ni in the contaminated soil.

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Cross-dehydrogenative couplings (CDC) present an efficient strategy for the assembly of biorelevant heterocycles, but are thus far largely limited to toxic transition metals and rather harsh reaction conditions. In sharp contrast, we, herein report on a mild photoelectrocatalyzed CDC-[4+2] annulation enabling the synthesis of functionalized isothiochromenes enabled by a proton-coupled electron transfer (PCET) strategy. The transformative photoelectrocatalysis obviated toxic transition-metal, high reaction temperatures, and stoichiometric chemical redox reagents. This approach was characterized by exceedingly mild conditions, ample substrate scope, and a commercially available catalyst. Gram-scale reactions and a telescoped synthesis route reflected the unique potential in the green synthesis of important S-heterocycles.

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Depression is one of the most common psychiatric conditions worldwide, with an annual escalation in prevalence. The serotonin (5-Hydroxytryptamine [5-HT]) metabolism through the gut-brain axis has been revealed to be related to the development of depression. Our previous study demonstrated that Lactococcus lactis WHH2078 alleviated depression in mice by shaping the gut microbiome composition and 5-HT metabolism. However, little research has explored the synergistic effects of probiotics and natural mental health-improving products. In this study, three natural products (saffron, l-theanine, and phosphatidylserine), either individually or in combination, were orally administrated for 4 weeks in chronic restraint stress (CRS)-induced mice, and their depressive behaviors, hippocampal 5-HT, and serum corticosterone were assessed. Saffron demonstrated improvement of the depressive-like behaviors via multiple behavioral tests and reversed the declined concentration of 5-HT and increased concentration of corticosterone. Following an initial screening, saffron was chosen to be combined with WHH2078, referred to as WHHMOOD™. Furthermore, the effects of WHHMOOD were evaluated in mice with depressive-like behaviors. WHHMOOD reduced immobility time in the forced swimming test and tail suspension test, increased the time spent in the central area in open field test, and reduced the serum corticosterone level. Besides, WHHMOOD improved the CRS-induced gut microbial dysbiosis by reversing gut microbial diversity and the abundances of Ligilactobacillus, Candidatus Arthromitus, and Erysipelatoclostridium. Compared to WHH2078, WHHMOOD treatment significantly increased the travel distance and hippocampal 5-HT level in mice. In conclusion, WHHMOOD exhibited prophylactic effects on depressive-like in CRS mice, which may act as a promising agent for improving the symptoms of depression.

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The flattened bamboo board (FB) represents a promising innovation in the bamboo industry. To address the challenges of flammability and hygroscopicity, composite coatings consisting of melamine (MEL), phytic acid (PA), cerium ions (Ce3+), and sodium laurate (La) are assembled on the FB surface through an in-situ impregnation strategy. The resulting MEL/PA-Ce3+@La FB exhibits exceptional flame retardancy. It achieves a V-0 rating in the vertical burning test (UL-94) and boasts a high limiting oxygen index (LOI) value of 38.5 %. The coated FB exhibits superhydrophobicity, evidenced by a water contact angle of 156.5°, which can be attributed to the in-situ growth of PA-Ce3+ complexes (for constructing micro/nanoscale coarse structures) and the modification with La (for reducing surface energy).This superhydrophobic surface imparts both self-cleaning and anti-mold properties to the coated FB. Moreover, the coated FB exhibits excellent mechanical stability, withstanding 36 cycles of sandpaper abrasion and tape peeling without losing its hydrophobicity. In summary, this work provides an innovative strategy for the bamboo processing industry to produce flattened bamboo boards with combined flame retardancy, superhydrophobic and anti-mold properties. Such versatility holds significant potential to facilitate the utilization of flattened bamboo boards in the construction and decorative materials industries.

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Freeze-thaw (FT) aging can change the physicochemical characteristics of microplastics (MPs). The toxic impacts of FT-aged-MPs to soil invertebrates are poorly understood. Here the toxic mechanisms of FT-aged-MPs were investigated in earthworms after 28 d exposure. Results showed that FT 50 µm PE-MPs significantly increased reactive oxygen species (ROS) by 5.78-9.04 % compared to pristine 50 µm PE-MPs (41.80-45.05 ng/mgprot), whereas FT 500 µm PE-MPs reduced ROS by 7.52-7.87 % compared to pristine 500 µm PE-MPs (51.44-54.46 ng/mgprot). FT-PP-MPs significantly increased ROS and malondialdehyde (MDA) content in earthworms by 14.82-44.06 % and 46.75-110.21 %, respectively, compared to pristine PP-MPs (40.56-44.66 ng/mgprot, 0.41-2.53 nmol/mgprot). FT-aged PE- and PP-MPs caused more severe tissue damage to earthworms. FT-aged PE-MPs increased the alpha diversity of the gut flora of earthworms compared to pristine MPs. Earthworm guts exposed to FT-aged-MPs were enriched with differential microbial genera of contaminant degradation capacity. FT-PE-MPs affected membrane translocation by up-regulating lipids and lipid-like molecules, whereas FT-PP-MPs changed xenobiotic biodegradation and metabolism by down-regulating organoheterocyclic compounds compared to the pristine PE- and PP-MPs. This study concludes that FT-aged MPs cause greater toxicity to earthworms compared to pristine MPs.

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Because of the lack of good seedling positioning during vegetable grafting, there are issues such as high labor costs and long grafting time. This article proposes a negative pressure suction seedling positioning method for seed leaves based on the characteristic parameters of cucumber spike wood, and designs a flexible adsorption positioning mechanism for spike wood. Firstly, the ventral surface curve trajectories of cucumber cotyledons were extracted using Matlab software, and then a shape-adaptive design was applied to the attachment surface of the flexible suction positioning mechanism, and a computational fluid dynamics model of the airflow field was established. By combining Fluent simulation analysis with orthogonal experiments, the effect of suction hole diameter, vacuum negative pressure value, suction hole quantity, and suction hole depth on the adsorption effect of the suction head was analyzed, the main and secondary factors and operational indicators that affect the adsorption effect are evaluated. The optimal parameter combination: suction hole diameter of 1.5 mm, vacuum negative pressure value of 2 kPa, suction hole quantity of 42, and suction hole depth of 2 mm, has been found. A verification experiment was conducted on a test bench, and the experimental results show that the success rate of leaf absorption using the optimal parameter combination is 97.69%, which indicates that the suction head is designed reasonably and meets the requirements of grafting.

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Recently, many reagents have been introduced to accelerate the formation of highly reactive intermediate Mn species from permanganate (KMnO4), thereby improving the oxidation activity of KMnO4 towards pollutants. However, most studies have mainly focused on sulfur-containing reducing agents (e.g., bisulfite and sodium sulfite), with little attention paid to nitrogen-containing reducing agents. This study found that hydroxylamine (HA) and hydroxylamine derivatives (HAs) can facilitate KMnO4 in pollutant removal. Taking sulfamethoxazole (SMX) as a target contaminant, the effect of pH, SMX concentration, KMnO4 and HA dosages, and the molar ratio of HA and KMnO4 on the degradation of SMX in the KMnO4/HA process was systematically investigated. Quenching experiments and probe analysis revealed MnO2-catalyzed KMnO4 oxidation, Mn(III) and reactive nitrogen species as the primary active species responsible for SMX oxidation in the KMnO4/HA system. Proposed transformation pathways of SMX in the KMnO4/HA system mainly involve hydroxylation and cleavage reactions. The KMnO4/HA system was more conducive to selective oxidation of SMX, 2,4-dichlorophenol, and several other pollutants, but reluctant to bisphenol S (BPS). Overall, this study proposed an effective system for eliminating pollutants, while providing mechanistic insight into HA-driven KMnO4 activation for environmental remediation.

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Onychomycosis in infants is a rare fungal infection. The condition is frequently linked to congenital or secondary immunodeficiency, as well as exposure to contaminated environments. In this report, we present a case of infant onychomycosis, likely infected during birth delivery from the mother with vaginal candidiasis. However, both the infant and the mother recovered spontaneously without any treatment over several months.

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Background: Percutaneous nephrolithotomy (PCNL) is thought to have an increased risk of infectious complications. This study evaluates the predictability of preoperative midstream urine culture (PMUC), stone culture (SC), and renal pelvis urine culture (RPUC) for post-PCNL systemic inflammatory response syndrome (SIRS) or urosepsis. Method: After literature search in electronic databases (Embase, PubMed, Ovid, Science Direct, and Springer), studies were selected by following precise eligibility criteria. The quality of included studies was assessed, and meta-analyses of proportions were performed to seek culture positivity rates and incidence rates of post-PCNL SIRS/urosepsis. Meta-analyses of odds ratios (OR) were performed to evaluate the odds of positivity between SC and PMUC or RPUC, and the odds of post-PCNL SIRS/urosepsis with SC versus PMUC or RPUC. Results: Nineteen studies (4829 patients) were included. Positivity rates of PMUC, SC, and RPUC were 16 % [95 % CI: 12, 20], 21 % [95 % CI: 16, 26] and 10 % [95 % CI: 7, 14] respectively. The odds of positivity were significantly higher for SC compared to PMUC (OR 1.37 [95%CI: 1.02, 1.84]; p = 0.037) or RPUC (OR 1.65 [95%CI: 1.25, 2.18] p < 0.0001). The incidence of post-PCNL SIRS and urosepsis was 21 % [95%CI: 17, 25] and 6 % [95%CI: 3, 10] respectively. The odds of post-PCNL SIRS were significantly higher with SC compared to PMUC (OR 2.45 [95%CI: 1.12, 5.38] p = 0.025) or RPUC (OR 2.10 [95%CI: 1.33, 3.30]; p = 0.001) positivity. The odds of developing urosepsis after PCNL were not significantly different between SC and PMUC positivity (OR 1.874 [95 % CI: 0.943, 3.723]; p = 0.073). Conclusion: The risk of post-PCNL SIRS is found higher with SC than with PMUC or RPUC positivity. However, the risk of urosepsis may not be different between SC and PMUC.

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l-Valine, an essential amino acid, serves as a valuable compound in various industries. However, engineering strains with both high yield and purity are yet to be delivered for microbial l-valine production. We engineered a Corynebacterium glutamicum strain capable of highly efficient production of l-valine. We initially introduced an acetohydroxy acid synthase mutant from an industrial l-valine producer and optimized a cofactor-balanced pathway, followed by the activation of the nonphosphoenolpyruvate-dependent carbohydrate phosphotransferase system and the introduction of an exogenous Entner-Doudoroff pathway. Subsequently, we weakened anaplerotic pathways, and attenuated the tricarboxylic acid cycle via start codon substitution in icd, encoding isocitrate dehydrogenase. Finally, to balance bacterial growth and l-valine production, an l-valine biosensor-dependent genetic circuit was established to dynamically repress citrate synthase expression. The engineered strain Val19 produced 103 g/L of l-valine with a high yield of 0.35 g/g glucose and a productivity of 2.67 g/L/h. This represents the highest reported l-valine production in C. glutamicum via direct fermentation and exhibits potential for its industrial-scale production, leveraging the advantages of C. glutamicum over other microbes.