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Background Primary carnitine deficiency (PCD) is an autosomal recessive rare disorder of carnitine cycle and carnitine transport caused by pathogenic variants in the SLC22A5 gene. The prevalence of PCD is unclear. This study aimed to estimate the carrier frequency and genetic prevalence of PCD using Genome Aggregation Database (gnomAD) data. Methods The pathogenicity of SLC22A5 variants was interpreted according to the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. The minor allele frequency (MAF) of the variants of the SLC22A5 gene in 807,162 individuals was examined to estimate the global prevalence of PCD in nine ethnicities: African/African American (afr), Admixed American (amr), East Asian (eas), Non-Finnish European (nfe), South Asian (sas), Ashkenazi Jewish (asj), Middle Eastern (mid), Finnish (fin) and Remaining individuals (rmi). The global and population-specific carrier frequency and genetic prevalence of PCD were calculated using the Hardy–Weinberg equation. Results Total of 213 pathogenic/likely pathogenic variants (PV/LPV) of the SLC22A5 gene were identified according to the ACMG standards and guidelines. The global carrier frequency and genetic prevalence of PCD were 10.6 per thousand (1/95) and 28.2 per million (1/35427), respectively. Conclusions The prevalence of PCD is estimated to be 1/35,000 globally, with a range of between 1/450,000 and 1/20,000 depending on ethnicity.

Background The genus Takifugu includes highly valued fish species known for their delicate flavor, making them popular in multiple countries. However, many species from this genus face significant threats. In order to better understand the genetic diversity and evolutionary dynamics of Takifugu , a syntelog-based pan-genome and graph genome were constructed using the data of seven Takifugu species. Results The analysis of 28,085 syntelog groups (SGs) composed of protein-coding genes revealed that only 57.3% of the SGs were shared among all individuals, whereas the remaining genes presented presence-absence variation (PAV) across the seven genomes. Using the graph genome as a reference, a population of 160 Takifugu individuals was analyzed, from which 20,133,471 SNPs, 4,606,141 Indels, and 152,200 SVs were identified. The gene flow analysis revealed directional gene flow from Takifugu bimaculatus and Takifugu flavidus to Takifugu oblongus . Notably, a 51-bp insertion in the ABCB9 gene differed significantly in frequency between the two migratory populations, suggesting the potential role of this gene in the migratory behavior of these species. Additionally, the expression profiles from 13 tissues or organs (brain, gallbladder, gill, gonad, heart, kidney, liver, muscle, pituitary, skin, spleen, stomach, and swim bladder) revealed a unique expression pattern in the liver, with the tissue-specific genes exhibiting evolutionary conservation to varying degrees. The highest proportion of core genes was found in the pituitary, whereas the lowest was found in the spleen. Conclusions This study provides comprehensive genomic resources that enhance the understanding of the genetic diversity and evolutionary dynamics of Takifugu species. The findings offer insights for research on both breeding and conservation of Takifugu .

Photosynthesis of hydrogen peroxide (H₂O₂) by selective oxygen reduction is a green and cost-effective alternative to the energy-intensive anthraquinone process. Although inexpensive polymeric graphitic carbon nitride (g-C₃N₄) exhibits the ability to produce H₂O₂, its disordered and amorphous structure leads to a high recombination rate of photogenerated carriers and hinders charge transfer between layers. Herein, we predict that stacked polymeric g-C₃N₄ with ion intercalation (K⁺ and I⁻) can improve carrier separation and transfer by multiscale computational simulations. The electronic structures of g-C₃N₄ were tailored and modified by intercalating K⁺ and I⁻ into the layer-by-layer structures. Guided by the computational predictions, we achieved efficient solar-driven H₂O₂ production by employing this facile and ion-intercalated crystalline g-C₃N₄. An H₂O₂ production rate of 13.1 mM g−1 h−1 and an apparent quantum yield of 23.6% at 400 nm were obtained. The synergistic effects of crystallinity regulation and dual interstitial doping engineering triggered the formation of new light absorption centers, the establishment of rapid charge diffusion channels, and the enhancement of two-electron oxygen reduction characteristics. This work sheds light on the dual tuning of crystallinity and electronic structure and broadens the design principles of organic-conjugated polymer photocatalysts for environmental remediation and energy conservation.

Abstract Aromatic amines (AAs), ubiquitous in industrial applications, pose significant environmental hazards due to their resistance to conventional wastewater treatments. Peracetic acid (PAA)-based advanced oxidation processes (AOPs) have been proposed as effective strategies for addressing persistent AA contaminants. While the organic radicals generated in these systems are believed to be selective and highly oxidative, acetate residue complicates the evaluation of AA removal efficiency. In this work, we explored transformation pathways of AAs in a representative Co(II)-catalyzed PAA system, revealing five side reactions (i.e. nitrosation, nitration, coupling, dimerization, and acetylation) that yield 17 predominantly stable and toxic by-products. The dominant reactive species was demonstrated as Co–OOC(O)CH3, which hardly facilitated ring-opening reactions. Our findings highlight the potential risks associated with PAA-based AOPs for AA degradation and provide insights into selecting suitable catalytic systems aimed at efficient and by-product-free degradation of pollutants containing aromatic –NH2.

The unique extracellular electron transfer (EET) ability has positioned electroactive bacteria (EAB) as a major class of cellular chassis for genetic engineering aimed at favorable environmental, energy, and geoscience applications. However, previous efforts to genetically enhance EET ability have often impaired the basal metabolism and cellular growth due to the competition for the limited cellular resource. Here, we design a quorum sensing-based population-state decision (PSD) system for intelligently reprogramming the EET regulation system, which allows the rebalanced allocation of the cellular resource upon the bacterial growth state. We demonstrate that the electron output from Shewanella oneidensis MR-1 could be greatly enhanced by the PSD system via shifting the dominant metabolic flux from initial bacterial growth to subsequent EET enhancement (i.e., after reaching a certain population-state threshold). The strain engineered with this system achieved up to 4.8-fold EET enhancement and exhibited a substantially improved pollutant reduction ability, increasing the reduction efficiencies of methyl orange and hexavalent chromium by 18.8- and 5.5-fold, respectively. Moreover, the PSD system outcompeted the constant expression system in managing EET enhancement, resulting in considerably enhanced electron output and pollutant bioreduction capability. The PSD system provides a powerful tool for intelligently managing extracellular electron transfer and may inspire the development of new-generation smart bioelectrical devices for various applications.

Photosynthesis of hydrogen peroxide (H 2 O 2 ) by selective oxygen reduction is a green and cost-effective alternative to the energy-intensive anthraquinone process. Although inexpensive polymeric graphitic carbon nitride (g-C 3 N 4 ) exhibits the ability to produce H 2 O 2 , its disordered and amorphous structure leads to a high recombination rate of photogenerated carriers and hinders charge transfer between layers. Herein, we predict that stacked polymeric g-C 3 N 4 with ion intercalation (K + and I – ) can improve carrier separation and transfer by multiscale computational simulations. The electronic structures of g-C 3 N 4 were tailored and modified by intercalating K + and I – into the layer-by-layer structures. Guided by the computational predictions, we achieved efficient solar-driven H 2 O 2 production by employing this facile and ion-intercalated crystalline g-C 3 N 4 . An H 2 O 2 production rate of 13.1 mM g −1 h −1 and an apparent quantum yield of 23.6% at 400 nm were obtained. The synergistic effects of crystallinity regulation and dual interstitial doping engineering triggered the formation of new light absorption centers, the establishment of rapid charge diffusion channels, and the enhancement of two-electron oxygen reduction characteristics. This work sheds light on the dual tuning of crystallinity and electronic structure and broadens the design principles of organic-conjugated polymer photocatalysts for environmental remediation and energy conservation.

Aromatic amines (AAs), ubiquitous in industrial applications, pose significant environmental hazards due to their resistance to conventional wastewater treatments. Peracetic acid (PAA)-based advanced oxidation processes (AOPs) have been proposed as effective strategies for addressing persistent AA contaminants. While the organic radicals generated in these systems are believed to be selective and highly oxidative, acetate residue complicates the evaluation of AA removal efficiency. In this work, we explored transformation pathways of AAs in a representative Co(II)-catalyzed PAA system, revealing five side reactions (i.e. nitrosation, nitration, coupling, dimerization, and acetylation) that yield 17 predominantly stable and toxic by-products. The dominant reactive species was demonstrated as Co-OOC(O)C[H.sub.3], which hardly facilitated ring-opening reactions. Our findings highlight the potential risks associated with PAA-based AOPs for AA degradation and provide insights into selecting suitable catalytic systems aimed at efficient and by-product-free degradation of pollutants containing aromatic -N[H.sub.2].

Fine aggregates are sensitive parts to skeleton structure of mixture and decrease rutting resistance of asphalt mixtures. In order to evaluate the high temperature performance of mixtures with different fine aggregate (2.36mm and 1.18mm) content, 16 gradations were investigated. Flow number test and rutting test was conducted to evaluate anti-rutting performance of mixtures. Then, interference coefficient was put forward to analyze interference rule of high temperature performance. The results show that high temperature performance was improved with the increasing size of nominal maximum aggregate size; the interference effects of fine aggregate ( 2.36mm and 1.18 mm ) is inversely proportional to nominal maximum aggregate size.

The lung Is an Important open organ and the primary site of respiration. Many life.threatening diseases develop in the lung, e.g., pneumonia, asthma, chronic obstructive pulmonary diseases （COPDs）, pulmonary fibrosis, and lung cancer. In the lung, innate Immunity serves as the frontline in both anti-irritant response and anti-tumor defense and is also critical for mucosal homeostasis; thus, it plays an important role In containing these pul- monary diseases. Innate lymphoid cells （ILCs）, charac. terized by their strict tissue residence and distinct function in the mucosa, are attracting Increased atten. tion In innate Immunity. Upon sensing the danger slg- nals from damaged epithelium, ILCs activate, proliferate, and release numerous cytoklnes with specific local functions; they also participate in mucosal immune- surveillance, Immune-regulation, and homeostasis. However, when their functions become uncontrolled, ILCs can enhance pathological states and Induce dis- eases. In this review, we discuss the physiologicel and pathological functions of ILC subsets 1 to 3 in the lung, and how the pathogenic environment affects the func- tion and plasticity of ILCs.

The aim of this study was to investigate the prognostic value of the lymphocyte-to-monocyte ratio (LMR) in patients undergoing hepatectomy and to compare it to established biomarkers including the neutrophil-to-lymphocyte ratio (NLR) and platelet-to-lymphocyte ratio (PLR). Medical records were retrospectively analyzed for 652 HCC patients undergoing hepatectomy at the Affiliated Tumor Hospital of Guangxi Medical University and the First People’s Hospital of Changde between April 2004 to April 2012. The correlation between the LMR and clinical variables were analyzed in Kaplan-Meier log-rank survival analysis and then multivariate Cox regression models trying to find relation with disease-free survival (DFS) and overall survival (OS). The area under the ROC curve (AUC) of the LMR(AUC:0.627) for predicting long-term survival was greater than that of the NLR(AUC:0.600) and the PLR(AUC:0.520).Multivariate analysis showed LMR to be an independent risk factor for OS (P = 0.002), and the NLR and PLR were not independently significant. Subgroup analysis also showed that LMR was significantly associated with poor DFS and OS in patients positive for HBsAg or with cirrhosis (both P < 0.001).Elevated preoperative LMR is an independently associated with poor OS and DFS in HCC patients following curative resection and appears to be superior to NLR and PLR.