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Abstract This study aimed to identify potential markers that can predict Parkinson’s disease with mild cognitive impairment (PDMCI). We retrospectively collected general demographic data, clinically relevant scales, plasma samples, and neuroimaging data (T1-weighted magnetic resonance imaging (MRI) data as well as resting-state functional MRI [Rs-fMRI] data) from 173 individuals. Subsequently, based on the aforementioned multimodal indices, a support vector machine was employed to investigate the machine learning (ML) classification of PD patients with normal cognition (PDNC) and PDMCI. The performance of 29 classifiers was assessed based on various combinations of indicators. Results demonstrated that the optimal classifier in the validation set was composed by clinical + Rs-fMRI+ neurofilament light chain, exhibiting a mean Accuracy of 0.762, a mean area under curve of 0.840, a mean sensitivity of 0.745, along with a mean specificity of 0.783. The ML algorithm based on multimodal data demonstrated enhanced discriminative ability between PDNC and PDMCI patients.

Abstract There is an urgent need to identify predictive biomarkers of Parkinson’s disease (PD) with cognitive impairment (PDCI) in order to individualize patient management, ensure timely intervention, and improve prognosis. The aim of this study was to screen for these biomarkers by comparing the plasma proteome and metabolome of PD patients with or without cognitive impairment. Proteomics and metabolomics analyses were performed on a discover cohort. A machine learning model was used to identify candidate protein and metabolite biomarkers of PDCI, which were validated in an independent cohort. The predictive ability of these biomarkers for PDCI was evaluated by plotting receiver operating characteristic curves and calculating the area under the curve (AUC). Moreover, we assessed the predictive ability of these proteins in combination with neuroimaging. In the discover cohort (n = 100), we identified 25 protein features with best results in the machine learning model, including top-ranked PSAP and H3C15. The two-proteins were used for model construction, achieving an Area under the curve (AUC) of 0.951 in the train set and AUC of 0.981 in the test set. Similarly, the model gives a rank list of endogenous metabolite features, Glycocholic Acid and 6-Methylnicotinamide were two top features. Combining these two markers further got the AUC of 0.969 in train set and 0.867 in the test set. To validate the performance of the protein biomarkers, we performed targeted analysis of selected proteins (H3C15 and PSAP) and proteins likely associated with PDCI (NCAM2 and LAMB2) using parallel reaction monitoring in validation cohort (n = 116). The AUC of the classifier built with H3C15 and PSAP is 0.813. Moreover, when combining H3C15, PSAP, NCAM2, and LAMB2, the model achieved AUC of 0.983 in the train set, AUC of 0.981 in the test set, and AUC of 0.839 in the validation set. Furthermore, we verified that these protein markers we discovered can improve the predictive effect of neuroimaging on PDCI: the classifier built with neuroimaging features had AUC of 0.833, which improved to 0.905 when combined with H3C15. Taken together, our integrated proteomics and metabolomics analysis successfully identified potential biomarkers for PDCI. Additionally, H3C15 showed promise in enhancing the predictive performance of neuroimaging for cognitive impairment.

Background IgA vasculitis (IgAV), previously known as Henoch-Schönlein purpura, is an IgA-mediated systemic small vessel vasculitis that tends to be more severe in adults than in children. Early diagnosis of IgAV involving the gastrointestinal tract remains difficult, especially in patients who present with gastrointestinal symptoms before purpura. This study aims to systematically analyze the abdominal imaging and endoscopic features of adult patients with abdominal IgAV, providing assistance to clinicians in the early recognition of this condition.Patients and Methods This multicenter retrospective study was conducted in three large tertiary hospitals in China from January 2017 to January 2024. A total of 108 adult patients with abdominal IgAV, who had complete abdominal imaging and/or endoscopy results, were enrolled. The clinical manifestations, abdominal imaging findings, endoscopic characteristics, and serological indicators of the patients were analyzed.Results The median age of the patients was 40 years (IQR: 26–55), with a male-to-female ratio of 2:1. Acute abdominal pain was the most common presenting symptom (100 patients, 92.59%). Bowel wall thickening was the most frequent finding on abdominal imaging (50/86 patients, 58.14%). Gastrointestinal endoscopy showed findings of congestion and erosion (32/67 patients, 47.76%), and erosion with ulcers (21/67 patients, 31.34%). Among patients with both imaging and endoscopic results, the duodenum (28/51 patients, 54.90%) and ileum (28/51 patients, 54.90%) were the most commonly affected sites. Laboratory findings revealed elevated white blood cell count (WBC), neutrophil-to-lymphocyte ratio (NLR), C-reactive protein (CRP), D-dimer and fibrinogen levels, along with decreased albumin level. Comparing patients with gastrointestinal symptoms versus purpura as the initial symptom, those with gastrointestinal symptoms had higher levels of WBC (p

Abstract Background Jianli pig, a renowned indigenous breed in China, has the characteristics of a two-end black (TEB) coat color, excellent meat quality, strong adaptability and increased prolificacy. However, there is limited information available regarding the genetic diversity, population structure and genomic regions under selection of Jianli pig. On the other hand, the genetic mechanism of TEB coat color has remained largely unknown. Results In this study, the whole genome resequencing of 30 Jianli pigs within a context of 153 individuals representing 13 diverse breeds was performed. The population structure analysis revealed that Jianli pigs have close genetic relationships with the Tongcheng pig breed, their geographical neighbors. Three methods (observed heterozygosity, expected heterozygosity, and runs of homozygosity) implied a relatively high level of genetic diversity and, a low inbreeding coefficient in Jianli compared with other pigs. We used Fst and XP-EHH to detect the selection signatures in Jianli pigs compared with Asian wild boar. A total of 451 candidate genes influencing meat quality (CREBBP, ADCY9, EEPD1 and HDAC9), reproduction (ESR1 and FANCA), and coat color (EDNRB, MITF and MC1R), were detected by gene annotation analysis. Finally, to fine-map the genomic region for the two-end black (TEB) coat color phenotype in Jianli pigs, we performed three signature selection methods between the TEB coat color and no-TEB coat color pig breeds. The current study, further confirmed that the EDNRB gene is a candidate gene for TEB color phenotype found in Chinese pigs, including Jinhua pigs, and the haplotype harboring 25 SNPs in the EDNRB gene may promote the formation of TEB coat color. Further ATAC-seq and luciferase reporter assays of these regions suggest that the 25-SNPs region was a strong candidate causative mutation that regulates the TEB coat color phenotype by altering enhancer function. Conclusion Our results advanced the understanding of the genetic mechanism behind artificial selection, and provided further resources for the protection and breeding improvement of Jianli pigs.

Polymer solid-state electrolytes (PSSEs) are promising for solving the safety problem of Lithium (Li) metal batteries (LMBs). However, PSSEs with low modulus in nature are prone to be penetrated by lithium dendrites, resulting in short circuit of LMBs. Here, we design and prepare piezoelectric BaTiO3 doped polyacrylonitrile (PAN@BTO) quasi-solid-state electrolytes (PQSSEs) by electrostatic spinning method to suppress dendritic growth. The piezoelectric polymer electrolytes are squeezed by nucleation and growth processes of Li dendrites, which can generate a piezoelectric electric field to regulate the deposition of Li+ ions and eliminate lithium bud. Consequently, piezoelectric PAN@BTO PQSSEs enables highly stable Li plating/stripping cycling for over 2 000 h at 0.15 mA/cm2 at room temperature (RT, 25 °C). Also, LiFePO4|PAN@BTO|Li full cells demonstrate excellent cycle performance (136.9 mA·h/g and 78% retention after 600 cycles at 0.5 C) at RT. Moreover, LiFePO4|PAN@BTO|Li battery show extremely high safety and can still work normally under high-speed impact (2 Hz, ∼30 kPa). We construct an in-situ cell monitoring system and disclose that the mechanism of suppressed lithium dendrite is originated from the generation of opposite piezoelectric potential and the feedback speed of intermittent piezoelectric potential signals is extremely fast.

Collecting large-scene synthetic aperture radar (SAR) images with targets of interest (TOI) has been a challenging task. To embed TOI slices into measured large scenes can be a good solution. Current methods for SAR TOI slice generation are mainly based on a single data source. Poor background variability of generated images leads to difficulty in naturally embedding TOI slices into large scenes. This article presents a SAR target background conversion network (BCNet), which combines TOI slices with large-scene slices under the same operating condition. The background of TOI slices is converted to large-scene background while preserving the target scattering characteristics to enhance the target background diversity and variability. Background conversion is a special image style transfer, and BCNet uses CycleGAN as the baseline model. The problem that the baseline model may result in target missing is analyzed by Bayesian theory, and then, a new loss function Bysloss is designed to preserve the characteristics of target shadow and scattering center. A new image fusion module has been developed to generate training data for robust background conversion. In addition, the generated high-quality background conversion images are used for two-way recognition performance verification, large scene, and generated TOI slices fusion verification, respectively. The experimental results have shown that the generated data can be successfully used for SAR automatic target recognition in few-shot conditions, and also have strong potential in generating large-scene SAR images with TOI, SAR deception jamming, and augmenting the target detection dataset.

Silicon-based anodes with high theoretical capacity have intriguing potential applications for high energy density lithium-ion batteries (LIBs), while suffer from immense volumetric change and brittle solid-state electrolyte interface that causes collapse of electrodes. Here, a stress-dissipated conductive polymer binder (polyaniline with citric acid, PC) is developed to enhance the mechanical electrochemical performance between Si nanoparticles (SiNPs) and binders. Benefiting from the stable triangle network node of citric acid and a considerable distributed of hydroxyl groups, the PC binder can effectively dissipate the stress from SiNPs, thus providing an excellent cyclic stability of Si anodes. Both experimental results and theoretical calculation demonstrate the enhanced adhesion between binders and SiNPs could bond the particles tightly to form a robust electrode. The as-fabricated Si anode exhibits outstanding structural stability upon long-term cycles that exhibit a highly reversible capability of 1 021 mA·h·g−1 over 500 cycles at a current density of 0.5 C (1 C = 4 200 mA·g−1). Evidently, this stress-dissipated binder design will provide a promising route to achieve long-life Si-based LIBs.

Marine industry agglomeration can promote regional economic development. This paper used panel data of 11 provinces and cities in coastal areas, measured the level of marine industry agglomeration by using the locational entropy method and empirically analyzed the influencing factors of marine industry agglomeration by using a fixed-effect model. The research found that: (1) there was obvious spatial heterogeneity in marine industry agglomeration. It had formed a primary industrial agglomeration area dominated by Hainan and Fujian, a secondary industrial agglomeration area headed by Tianjin, and a tertiary industrial agglomeration area headed by Shanghai. Hainan, Tianjin and Shanghai were strong agglomeration areas for China's marine industries but the level of agglomeration had slowed down. (2) Resource endowments, potential markets, labor scale, degree of opening up and fixed asset investment had significantly improved the level of marine industry agglomeration. Lower levels of science and technology innovation constrained the development of the marine secondary industry, the lack of highly educated personnel had restricted the agglomeration of marine industries. And the development of secondary and tertiary industries was no longer dependent on traditional infrastructure. Advantageous industries should be developed according to local conditions and the scale of agglomeration be moderately controlled, marine science and technology innovation and talent team building should be accelerated to promote the agglomeration and development of marine industry.

Background and Objectives: While there exists a significant wastage of platelets on one side (volatile demands and short lifetime), there is also a shortage for use on the other (lack of donors and emergency transfusions). A new centralized management system was established to tackle this dilemma. Methods: To assess the function of this system, data were collected from the Fengxian Blood Bank (FBB) Collection and Supply Information System during 2016 and 2018, then analyzed by IBM SPSS Statistics version 20. Results: Since implementing the centralized management system, a total of 1340 units of apheresis platelets were distributed by FBB. However, the number of units collected was 2737, twice as much as what had been distributed. With the aid of the system, the excess of 1644 units of apheresis platelets were transferred to the Shanghai Blood Center (SBC) inventory at their disposal. On the other hand, 247 units (included in 1340 distributed units) were compensated by SBC during the platelet shortage. In addition, the hospital demand meeting rate shows a significant increase from 82.61% to 99.78%, especially for type AB which increases from 62% to 100%. Conclusions: In conclusion, the centralized management system vastly improved the efficiency of platelet collection and distribution by the regional supply and demand. Such success would be a superb example of blood banks facing similar problems.

In order to break the limitation of plasma nitriding technology, which can only be applied to a few non-metallic gaseous elements, the “double glow discharge phenomenon” was defined and then the “double glow plasma surface metallurgy technology” was invented. This double glow plasma surface metallurgy technology can use any element of the Periodic Table for surface alloying of metallic materials. Countless surface alloys with special physical and chemical properties have been produced on the surfaces of conductive materials. By using the double glow discharge phenomenon, a series of new double glow plasma technologies have been developed to apply to surface metallurgy, graphene technology, brazing, sintering, arc plasma surface alloying, nanotechnology, cleaning, carburizing without hydrogen, and so on. This article briefly introduces the basic principles, functions, and characteristics of each technology. The application prospects and development directions of plasma in metallic materials and the machinery manufacturing industry will also be discussed.

Based on the panel data of 11 coastal provinces (autonomous regions and municipalities) from 2009 to 2018, this paper used the panel simultaneous equation model to empirically investigate the impact and transmission mechanism of marine technological innovation on marine economic growth using the three-stage least squares method. The research results showed that: (1) The impact of marine scientific and technological innovation on marine economic growth had dual paths. Marine scientific and technological innovation could not only directly promote marine economic growth, but also indirectly affect marine economic growth through the upgrading of marine industrial structure; (2) Eastern and southern marine science and technology innovation and industrial structure upgrading in the marine economic circle significantly promoted marine economic growth, while marine technological innovation in the northern marine economic circle had no significant impact on marine economic growth; (3) Human capital had played a significant role in promoting marine economic growth, and the promotion effect on the northern marine economic circle was stronger. In the future, the quality of human capital should be further improved, the marine science and technology innovation system should be improved, the transformation of innovation achievements should be accelerated, and the rational upgrade of the marine industrial structure should be promoted.

In order to improve the comprehensive utilization rate of V2O5 form vanadium titanomagnetite concentrates, the direct leaching and the roasting-leaching tests were carried out using titanium white waste acid byorthogonal experiment method. The results of direct leaching experiment show that the liquid-solid ratio is the most important factor affecting the leaching rate of V2O5, and the concentration of titanium white waste acid is the least. The 71.05% vanadium can be leached under the experimental condition of 20% of titanium white waste acid, 90℃ for 90 min with a liquid-to-solid ratio of 5. The results of roasting-leaching experiment show that the effects of roasting temperature, K2CO3 ratio, Na2CO3 ratio and roasting time on the leaching rate of V2O5 are from large to small. When the conditions of roasting time of 2 h, roasting temperature of 1000℃, Na2CO3 ratio of 10%, and K2CO3 ratio of 10%, and the leaching rate of V2O5 can reach 84.48%.

Objective To analyze the difference of circulating threshold (Ct) of polymerase chain reaction (PCR) in blood station laboratories during the external quality assessment, and to put forward suggestions for the quality improvement of participating laboratories. Methods From 2018 to 2021, the blood station laboratories participated in the external laboratory quality assessment of CITIC including blood screening items with nucleic acid testing method. The data of Roche diagnostic reagent group were used as the source, and the detected Ct values of three groups of quality control samples of HBV A subtype (400 IU/mL), HCV 1b subtype (400 IU/mL) and HIV B genotype (500 IU/mL) were used as the objects. The data were grouped according to quality control (sample) batches, reagent batches and different laboratories. Using the statistical method of variance analysis (assuming P

Objective: This study aims to investigate the prognostic value and economic benefit of coronary angiography-derived fractional flow reserve (caFFR) guided percutaneous coronary intervention (PCI) in patients with coronary artery disease. Methods: All patients with coronary artery disease (CAD) who underwent coronary angiography in our center between April 2021 and November 2021 were retrospectively enrolled and divided into the caFFR guidance group (n = 160) and angiography guidance group (n = 211). A threshold of caFFR≤0.8 was used for revascularization. Otherwise, delayed PCI was preferred. The patients were prospectively followed up by telephone or outpatient service at six months for major adverse cardiovascular events (MACE) of all-cause death, myocardial infarction or target vessel revascularization, stent thrombosis, and stroke. All in-hospital expenses were recorded, including initial hospitalization and re-hospitalization related to MACE. Results: There was no significant difference in the baseline characteristics between the two groups. There were 2 (1.2%) patients in the caFFR guidance group and 5 (2.4%) patients in the angiography guidance group with MACE events during the following six months. Compared with angiography guidance, caFFR guidance reduced the revascularization rate (63.7% vs. 84.4%, p = 0.000), the average length of stents implanted (0.52 ± 0.88 vs. 1.1 ± 1.4, P

Abstract Pigs not only function as a major meat source worldwide but also are commonly used as an animal model for studying human complex traits. A large haplotype reference panel has been used to facilitate efficient phasing and imputation of relatively sparse genome-wide microarray chips and low-coverage sequencing data. Using the imputed genotypes in the downstream analysis, such as GWASs, TWASs, eQTL mapping and genomic prediction (GS), is beneficial for obtaining novel findings. However, currently, there is still a lack of publicly available and high-quality pig reference panels with large sample sizes and high diversity, which greatly limits the application of genotype imputation in pigs. In response, we built the pig Haplotype Reference Panel (PHARP) database. PHARP provides a reference panel of 2012 pig haplotypes at 34 million SNPs constructed using whole-genome sequence data from more than 49 studies of 71 pig breeds. It also provides Web-based analytical tools that allow researchers to carry out phasing and imputation consistently and efficiently. PHARP is freely accessible at http://alphaindex.zju.edu.cn/PHARP/index.php . We demonstrate its applicability for pig commercial 50 K SNP arrays, by accurately imputing 2.6 billion genotypes at a concordance rate value of 0.971 in 81 Large White pigs (~ 17 × sequencing coverage). We also applied our reference panel to impute the low-density SNP chip into the high-density data for three GWASs and found novel significantly associated SNPs that might be casual variants.

Efficacy of immunotherapy in hepatocellular carcinoma (HCC) is blocked by its high degree of inter‐ and intra‐tumor heterogeneity and immunosuppressive tumor microenvironment. However, the correlation between tumor heterogeneity and immunosuppressive microenvironment in HCC has not been well addressed. Here, we endeavored to dissect inter‐ and intra‐tumor heterogeneity in HCC and uncover how they contribute to the immunosuppressive microenvironment. We performed consensus molecular subtyping with non‐negative matrix factorization (NMF) clustering to stratify the inter‐heterogeneity profile of HCC tumors. We grouped HCC tumors from the Cancer Genome Atlas (TCGA) patients into three subtypes (S1, S2 and S3), where S1 was characterized as a ‘hot tumor’ profile with high expression level of T cell genes and rate of immune scores. S2 was characterized as a ‘cold tumor’ profile with the highest tumor purity score, and S3 as an ‘immunosuppressed tumor’ profile with the poorest prognosis and a high expression level of immunosuppressive genes such as cytotoxic T‐lymphocyte‐associated protein‐4, TIGIT, and PDCD1. Moreover, we combined weighted gene co‐expression network analysis and single‐cell regulatory network inference and clustering (SCENIC) in the single‐cell dataset of the S3‐like subtype (CS3) and identified a transcription factor, BATF, which could upregulate immunosuppressive genes. Finally, we identified a cell interaction network in which a myeloid‐derived suppressor cell‐like macrophage subtype could promote the formation of immunosuppressive T‐cells.

Abstract The wide‐spread proliferation of aqueous MXene‐based supercapacitor has been largely shadowed by the limited cell potential window (typically in the range of 0–0.6 V). To address this baffling issue, designing asymmetric supercapacitor (ASC) is proposed as a rational strategy to enlarge the potential window (thus energy density) of individual cell in aqueous electrolytes. To this date, however, it still remains a great challenge to develop easy fabricating, 3D nanostructured, and pseudocapacitive cathode materials that can perfectly match with MXene anode materials. In this work, we propose a supramolecular strategy to construct conducting polymer hydrogel (CPH) with highly interconnected 3D nanostructures and large pseudocapacitance, which can finely match with 2D Ti3C2Tx. The as‐assembled CPH//Ti3C2Tx ASC with CPH cathode and MXene anode can operate in a broadened potential window of 1.15 V in aqueous PVA/H2SO4 gel electrolyte with remarkably improved energy density of 16.6 μWh/cm2 (nine times higher than that of symmetric MXene supercapacitor). Additionally, this ASC exhibits outstanding cyclic stability with no trackable performance decay over 30,000 galvanostatic charge and discharge cycles. It is demonstrated in this work that employing positive CPH electrode is a feasible yet promising strategy to enhance the potential window and energy density of aqueous MXene supercapacitors.

Video Synthetic Aperture Radar (SAR) presents great potential in ground moving target detection and tracking through high frame rate and high-resolution imaging. Target Doppler energy is essential for traditional SAR Ground Moving Target Indication (SAR-GMTI), as the target shadow can also be used for detection in video SAR. However, neither of these detection methods can stand alone to achieve robust detection in video SAR, owing to the distortion or smearing of target energy and its shadow. This paper presents the processing results of airborne video SAR real data using the Faster Region-based Convolutional Neural Network (Faster R-CNN) and the traditional track association based on dual-domain joint detection as proposed in the literature. These two approaches successfully utilize the feature and space time information of target Doppler energy and shadow in the detection of a maneuvering target.

The comprehensive utilization of metallurgical mineral solid waste is an important part of building a green and low-carbon circular economy system. In this paper, the vanadium-extracted and discarded slag is used as raw material, and the vanadium-extracted and discarded slag solar thermal collector coating is prepared by iron removal, ball milling, beating, and spraying. As the medium, the heat collection performance at different inclination angles was studied. The results show that when the inclination angle is 30°, the heat collection efficiency of the vanadium-extracted spoil coated heat collector plate is the best, which can reach 84.69%. The heat collection efficiency of the titanium film-coated collector plate is 6.81% lower. It shows that the vanadium-extracted waste slag used as a solar collector coating has a feasible technology, low price and important significance for solid waste reuse.

Bisphenol AF (BPAF) is a newly identified contaminant in the environment that has been linked to impairment of the male reproductive system. However, only a few studies have systematically studied the mechanisms underlying BPAF-induced toxicity in testicular Sertoli cells. Hence, this study primarily aims to explore the toxic mechanism of BPAF on the porcine Sertoli cell line (ST cells). The effects of various concentrations of BPAF on ST cell viability and cytotoxicity were evaluated using the Counting Kit-8 (CCK-8) assay. The results demonstrated that exposure to a high concentration of BPAF (above 50 μM) significantly inhibited ST cell viability due to marked cytotoxicity. Flow cytometry analysis further confirmed that BPAF facilitated apoptosis and induced cell cycle arrest in the G2/M phase. Moreover, BPAF exposure upregulated the expression of pro-apoptotic markers BAD and BAX while downregulating anti-apoptotic and cell proliferation markers BCL-2, PCNA, CDK2, and CDK4. BPAF exposure also resulted in elevated intracellular levels of reactive oxygen species (ROS) and malondialdehyde (MDA), alongside reduced activities of the antioxidants glutathione (GSH), catalase (CAT), and superoxide dismutase (SOD). Furthermore, the ROS scavenger N-acetyl-L-cysteine (NAC) effectively blocked BPAF-triggered apoptosis and cell cycle arrest. Therefore, this study suggests that BPAF induces apoptosis and cell cycle arrest in ST cells by activating ROS-mediated pathways. These findings enhance our understanding of BPAF’s role in male reproductive toxicity and provide a foundation for future toxicological assessments.

Meat quality is one of the most important economic traits in pig breeding and production, and intramuscular fat (IMF) content is the major factor in improving meat quality. The IMF deposition in pigs is influenced by transcriptional regulation, which is dependent on chromatin accessibility. However, how chromatin accessibility plays a regulatory role in IMF deposition in pigs has not been reported. Xidu black is a composite pig breed with excellent meat quality, which is an ideal research object of this study. In this study, we used the assay for transposase-accessible chromatin using sequencing (ATAC-seq) and RNA sequencing (RNA-seq) analysis to identify the accessible chromatin regions and key genes affecting IMF content in Xidu black pig breed with extremely high and low IMF content. First, we identified 21,960 differential accessible chromatin peaks and 297 differentially expressed genes. The motif analysis of differential peaks revealed several potential cis-regulatory elements containing binding sites for transcription factors with potential roles in fat deposition, including Mef2c, CEBP, Fra1, and AP-1. Then, by integrating the ATAC-seq and RNA-seq analysis results, we found 47 genes in the extremely high IMF (IMF_H) group compared with the extremely low IMF (IMF_L) group. For these genes, we observed a significant positive correlation between the differential gene expression and differential ATAC-seq signal (r2 = 0.42). This suggests a causative relationship between chromatin remodeling and the resulting gene expression. We identified several candidate genes (PVALB, THRSP, HOXA9, EEPD1, HOXA10, and PDE4B) that might be associated with fat deposition. Through the PPI analysis, we found that PVALB gene was the top hub gene. In addition, some pathways that might regulate fat cell differentiation and lipid metabolism, such as the PI3K-Akt signaling pathway, MAPK signaling pathway, and calcium signaling pathway, were significantly enriched in the ATAC-seq and RNA-seq analysis. To the best of our knowledge, our study is the first to use ATAC-seq and RNA-seq to examine the mechanism of IMF deposition from a new perspective. Our results provide valuable information for understanding the regulation mechanism of IMF deposition and an important foundation for improving the quality of pork.

The aim of this study was to investigate the genetic parameters and genetic architectures of six milk production traits in the Shanghai Holstein population. The data used to estimate the genetic parameters consisted of 1,968,589 test-day records for 305,031 primiparous cows. Among the cows with phenotypes, 3,016 cows were genotyped with Illumina Bovine SNP50K BeadChip, GeneSeek Bovine 50K BeadChip, GeneSeek Bovine LD BeadChip v4, GeneSeek Bovine 150K BeadChip, or low-depth whole-genome sequencing. A genome-wide association study was performed to identify quantitative trait loci and genes associated with milk production traits in the Shanghai Holstein population using genotypes imputed to whole-genome sequences and both fixed and random model circulating probability unification and a mixed linear model with rMVP software. Estimated heritabilities (h2) varied from 0.04 to 0.14 for somatic cell score (SCS), 0.07 to 0.22 for fat percentage (FP), 0.09 to 0.27 for milk yield (MY), 0.06 to 0.23 for fat yield (FY), 0.09 to 0.26 for protein yield (PY), and 0.07 to 0.35 for protein percentage (PP), respectively. Within lactation, genetic correlations for SCS, FP, MY, FY, PY, and PP at different stages of lactation estimated in random regression model were ranged from -0.02 to 0.99, 0.18 to 0.99, 0.04 to 0.99, 0.04 to 0.99, 0.01 to 0.99, and 0.33 to 0.99, respectively. The genetic correlations were highest between adjacent DIM but decreased as DIM got further apart. Candidate genes included those related to production traits (DGAT1, MGST1, PTK2, and SCRIB), disease-related (LY6K, COL22A1, TECPR2, and PLCB1), heat stress–related (ITGA9, NDST4, TECPR2, and HSF1), and reproduction-related (7SK and DOCK2) genes. This study has shown that there are differences in the genetic mechanisms of milk production traits at different stages of lactation. Therefore, it is necessary to conduct research on milk production traits at different stages of lactation as different traits. Our results can also provide a theoretical basis for subsequent molecular breeding, especially for the novel genetic loci.

Efficient and excellent nanoparticles are required for the degradation of organic dyes in photocatalysis. In this study, silver–manganese oxide nanoparticles (Ag-Mn-NPs) were synthesized through a wet chemical precipitation method and characterized as an advanced catalyst that has enhanced photocatalytic activity under sunlight irradiation. The nanoparticles were characterized using scanning electron microscopy (SEM), XRD, UV–vis light spectra, and energy-dispersive X-ray (EDX) spectroscopy, revealing their spherical and agglomerated form. The EDX spectra confirmed the composition of the nanoparticles, indicating their presence in oxide form. These bimetallic oxide nanoparticles were employed as photocatalysts for the degradation of malachite green (MG) dye under sunlight irradiation in an aqueous medium. The study investigated the effects of various parameters, such as irradiation time, catalyst dosage, recovered catalyst dosage, dye concentration, and pH, on the dye’s photodegradation. The results showed that Ag-Mn oxide nanoparticles exhibited high photocatalytic activity, degrading 92% of the dye in 100 min. A longer irradiation time led to increased dye degradation. Moreover, a higher catalyst dosage resulted in a higher dye degradation percentage, with 91% degradation achieved using 0.0017 g of the photocatalyst in 60 min. Increasing the pH of the medium also enhanced the dye degradation, with 99% degradation achieved at pH 10 in 60 min. However, the photodegradation rate decreased with increasing dye concentration. The Ag-Mn oxide nanoparticles demonstrate excellent potential as a reliable visible-light-responsive photocatalyst for the efficient degradation of organic pollutants in wastewater treatment.

Abstract Background China is the country with the most abundant swine genetic resources in the world. Through thousands of years of domestication and natural selection, most of pigs in China have developed unique genetic characteristics. Finding the unique genetic characteristics and modules of each breed is an essential part of their precise conservation. Results In this study, we used the partial least squares method to identify the significant specific SNPs of 19 local Chinese pig breeds and 5 Western pig breeds. A total of 37,514 significant specific SNPs (p

The impact of voltage sag on sensitive devices is related to the time when the sag occurs. However, the point-on-wave of a sag is uncertain. Therefore, this paper presents a novel approach to evaluate the voltage sag severity considering a random point-on-wave. First, the uncertainty of equipment malfunction is revealed. Second, under a given residual voltage, the relationship between the point-on-wave and the duration that the device can withstand is described with a fitting curve. Third, a voltage sag probabilistic index is proposed to describe the severity. The evaluation procedure is also presented. Finally, three types of releasers are tested and analyzed to determine the effectiveness of the proposed method. The evaluation method can help instruct electrical engineers establish more well-grounded sag mitigation proposals.

Detection of amplification of the MYCN gene is essential for determining optimal treatment and estimating prognosis of patients with neuroblastoma (NB). DNA FISH with neuroblastoma tissues or patient‐derived bone marrow cells is the standard clinical practice for the detection of MYCN amplification. As tumor cells may often be unavailable, we developed a method to detect MYCN amplification in the plasma of patients with neuroblastoma. Taking single‐copy NAGK DNA as reference, we used real‐time quantitative PCR (qPCR) to determine the MYCN/NAGK ratio in the plasma of 115 patients diagnosed with NB. An increased MYCN/NAGK ratio in the plasma was consistent with MYCN amplification as assessed by DNA FISH. The AUC for a MYCN/NAGK ratio equal to 6.965 was 0.943, with 86% sensitivity and 100% specificity. Beyond the threshold of 6.965, the MYCN/NAGK ratio correlated with a heavier tumor burden. Event‐free and overall survival of two years were significantly shortened in stage 4 patients with a MYCN/NAGK ratio higher than 6.965. Plasma MYCN/NAGK ratios increased in patients with progressive disease and relapse. Thus, we conclude that the determination of the plasma MYCN/NAGK ratio by qPCR is a noninvasive and reproducible method to measure MYCN amplification in patients with NB.

Abstract Background Risk factors related to mortality due to invasive pneumococcal disease (IPD) have been unveiled previously, but early clinical manifestations of IPD based on prognosis remain uncovered. Methods The demographic characteristics, clinical features, serotype, antibiotic susceptibility, and outcomes of 97 hospitalized children with laboratory-confirmed IPD from Suzhou, China, were collected and analyzed retrospectively. Results The median age was 0.69 (0.49–1.55) years in the non-survivor group compared with 2.39 (0.90–3.81) years in the survivor group. The mortality of 97 children with laboratory-confirmed IPD was 17.5% (17/97), and 53.6% of them were aged less than 2 years. Pathogens were mainly from the blood and cerebrospinal fluid, and sepsis was the most frequent type. Statistically significant differences were found in hyperpyrexia, vomiting, anorexia, lethargy, poor perfusion of extremities, Hb level, and Plt count between the nonsurvival and survival groups. Further, the multivariate regression analysis showed that early signs, including hyperpyrexia, vomiting, anorexia, lethargy, and poor perfusion of extremities, were independent risk factors for the in-hospital mortality of children with laboratory-confirmed IPD. The mortality was also associated with antimicrobial sensitivity in pneumococcal isolates. The microbes in 1/17 (5.9%) children who were prescribed an antibiotic showed antimicrobial sensitivity in the nonsurvival group, compared with 21/80 (26.3%) children who survived. The most common serotypes identified were 6B (35.3%, 6/17), 14 (23.5%, 4/17), 19F (23.5%, 4/17), 19A (5.9%, 1/17), 23F (5.9%, 1/17), and 20 (5.9%, 1/17) in the nonsurvival group. The coverage of IPD serotypes of the 7-valent pneumococcal conjugate vaccine (PCV7) was 88.2% (15/17), while that of the 13-valent S. pneumoniae vaccine (PCV13) was 94.1% (16/17) of the coverage in the nonsurvival group. Conclusions Recurrent hyperpyrexia, vomiting, anorexia, lethargy, and poor perfusion of extremities in the early stage were independent predictors for the in-hospital mortality of children with laboratory-confirmed IPD. Appropriate use of antibiotics and PCV immunization were the keys to improve the outcome of IPD.

The aim of this study was to detect evidence for signatures of recent selection in the Jinhua pig genome. These results can be useful to better understand the regions under selection in Jinhua pigs and might shed some lights on groups of genes that control production traits. In the present study, we performed extended haplotype homozygosity (EHH) tests to identify significant core regions in 202 Jinhua pigs. A total of 26 161 core regions spanning 636.42 Mb were identified, which occupied approximately 28% of the genome across all autosomes, and 1 158 significant (P

In the long history of science and technology development, one goal is to diffuse solid alloy elements into the surface of steel materials to form surface alloys with excellent physical and chemical properties. On the basis of plasma nitriding technology, double glow plasma surface metallurgy technology has answered this challenge. This technology, which seems to be a modern-day alchemy, can use any element in the Periodic Table of chemical elements, including solid metal elements and their combinations, to form many types of surface alloyed layers with high hardness, wear resistance, corrosion resistance, and high temperature oxidation resistance on various metal materials. For example, nickel base alloys, stainless steels, and high speed steels are formed on the surfaces of ordinary carbon steels; high hardness, wear resistance, and high temperature oxidation resistance alloys are formed on the surface of the titanium alloy. This article briefly introduces the formation and principle of double glow plasma surface metallurgy technology and summarizes the experimental results and industrial applications. The significance and development prospect of this technology are discussed.

Deregulated Wnt/β-catenin signaling is one of the main genetic alterations in human hepatocellular carcinoma (HCC). Comprehensive genomic analyses have revealed that gain-of-function mutation of CTNNB1, which encodes β-catenin, and loss-of-function mutation of AXIN1 occur in approximately 35% of human HCC samples. Human HCCs with activation of the Wnt/β-catenin pathway demonstrate unique gene expression patterns and pathological features. Activated Wnt/β-catenin synergizes with multiple signaling cascades to drive HCC formation, and it functions through its downstream effectors. Therefore, strategies targeting Wnt/β-catenin have been pursued as possible therapeutics against HCC. Here, we review the genetic alterations and oncogenic roles of aberrant Wnt/β-catenin signaling during hepatocarcinogenesis. In addition, we discuss the implication of this pathway in HCC diagnosis, classification, and personalized treatment.

The primary purpose of the current study was to assess the genetic diversity, runs of homozygosity (ROH) and ROH islands in a Chinese composite pig and explore hotspot regions for traces of selection. First, we estimated the length, number, and frequency of ROH in 262 Xidu black pigs using the Porcine SNP50 BeadChip and compared the estimates of inbreeding coefficients, which were calculated based on ROHs (FROH) and homozygosity (FHOM). Our result shows that a total of 7,248 ROH exceeding 1Mb were detected in 262 pigs. In addition, Sus scrofa chromosome (SSC) 8 and SSC10, respectively, has the highest and lowest chromosome coverage by ROH. These results suggest that inbreeding estimation based on total ROH may be a useful method, especially for crossbreed or composite populations. We also calculated an inbreeding coefficient of 0.077 from the total ROH. Eight ROH islands were found in this study. These ROH islands harbored genes associated with fat deposition, muscular development, reproduction, ear shape, and adaptation, such as TRAF7, IGFBP7, XPO1, SLC26A8, PPARD, and OR1F1. These findings may help to understand the effects of environmental and artificial selection on the genome structure of composite pigs. Our results provide a basis for subsequent genomic selection (GS), and provides a reference for the hybrid utilization of other pig breeds.

Abstract Background Neuroblastoma is the most common extracranial solid tumor of childhood. The high rate of recurrence is associated with a low survival rate for patients with high-risk neuroblastoma. There is thus an urgent need to identify effective predictive biomarkers of disease recurrence. Methods A total of 116 patients with high-risk neuroblastoma were recruited at Beijing Children’s Hospital between February 2015 and December 2017. All patients received multidisciplinary treatment, were evaluated for the therapeutic response, and then initiated on maintenance treatment. Blood samples were collected at the beginning of maintenance treatment, every 3 months thereafter, and at the time of disease recurrence. Plasma levels of cell-free DNA (cfDNA) were quantified by qPCR. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the ability of plasma cfDNA concentration to predict recurrence. Results Of the 116 patients, 36 (31.0%) developed recurrence during maintenance treatment. The median time to recurrence was 19.00, 9.00, and 8.00 months for patients who had achieved complete response (n = 6), partial response (n = 25), and stable disease (n = 5), respectively, after multidisciplinary treatment. The median plasma cfDNA concentration at the time of recurrence was significantly higher than the concentration in recurrence-free patients throughout maintenance treatment (29.34 ng/mL vs 10.32 ng/mL). Patients recorded a plasma cfDNA level ≥ 29 ng/mL an average of 0.55 months before diagnosis of disease recurrence. ROC analysis of the power of plasma cfDNA to distinguish between patients with or without recurrence yielded an area under the curve of 0.825, with optimal sensitivity and specificity of 80.6 and 71.3%, respectively, at a cfDNA level of 12.93 ng/mL. Conclusions High plasma cfDNA concentration is a potential molecular marker to signal disease recurrence in patients with high-risk neuroblastoma.

Objective Porcine respiratory disease is one of the most important health problems causing significant economic losses. To understand the genetic basis for susceptibility to swine enzootic pneumonia (EP) in pigs, we detected 102,809 single nucleotide polymorphisms in a total of 249 individuals based on genome-wide sequencing data. Methods Genome comparison of susceptibility to swine EP in three pig breeds (Jinhua, Erhualian, and Meishan) with two western lines that are considered more resistant (Duroc and Landrace) using cross-population extended haplotype homozygosity and F-statistic (FST) statistical approaches identified 691 positively selected genes. Based on quantitative trait loci, gene ontology terms and literature search, we selected 14 candidate genes that have convincible biological functions associated with swine EP or human asthma. Results Most of these genes were tested by several methods including transcription analysis and candidate genes association study. Among these genes: cytochrome P450 1A1 and catenin beta 1 (CTNNB1) are involved in fertility; transforming growth factor beta receptor 3 plays a role in meat quality traits; Wnt family member 2, CTNNB1 and transcription factor 7 take part in adipogenesis and fat deposition simultaneously; plasminogen activator, urokinase receptor (completely linked to AXL receptor tyrosine kinase, r2 = 1) plays an essential role in the successful ovulation of matured oocytes in pigs; colipase like 2 (strongly linked to SAM pointed domain containing ETS transcription factor, r2 = 0.848) is involved in male fertility. Conclusion These adverse genes susceptible to swine EP may be selected while selecting for economic traits (especially reproduction traits) due to pleiotropic and hitchhiking effect of linked genes. Our study provided a completely new point of view to understand the genetic basis for susceptibility or resistance to swine EP in pigs thereby, provides insight for designing sustainable breed selection programs. Finally, the candidate genes are crucial due to their potential roles in respiratory diseases in a large number of species, including human.

This paper addresses the asynchronous control design problem for discrete-time Markov switching Lur’e systems. First, to schedule the information transmission and data collisions by the limited shared channel, the round-robin protocol is adopted in scheduling the information exchange order. Second, considering that the system mode cannot be identified to controller, a mode observer is employed to evaluate the system mode by menas of a hidden Markov model. To address this issue, the mode-dependent stochastic Lur’e type Lyapunov functional is analyzed, and several sufficient criteria with prescribed performance are attained to guarantee the stochastically stable of the resulting discrete-time MSLSs. Finally, the effectiveness and applicability of the gained technique is verified by a practical example.

Abstract Background Hepatocellular carcinoma (HCC) is a leading cause of cancer related deaths worldwide. The PI3K cascade is one of the major signaling pathways underlying HCC development and progression. Activating mutations of PI3K catalytic subunit alpha (PIK3CA) and/or loss of Pten often occur in human HCCs. Serum and glucocorticoid kinase 3 (SGK3) belongs to the SGK family of AGK kinases and functions in parallel to AKT downstream of PI3K. Previous studies have shown that SGK3 may be the major kinase responsible for the oncogenic potential of PIK3CA helical domain mutants, such as PIK3CA(E545K), but not kinase domain mutants, such as PIK3CA(H1047R). Methods We investigated the functional contribution of SGK3 in mediating activated PIK3CA mutant or loss of Pten induced HCC development using Sgk3 knockout mice. Results We found that ablation of Sgk3 does not affect PIK3CA(H1047R) or PIK3CA(E545K) induced lipogenesis in the liver. Using PIK3CA(H1047R)/c-Met, PIK3CA(E545K)/c-Met, and sgPten/c-Met murine HCC models, we also demonstrated that deletion of Sgk3 moderately delays PIK3CA(E545K)/c-Met driven HCC, while not affecting PIK3CA(H1047R)/c-Met or sgPten/c-Met HCC formation in mice. Similarly, in human HCC cell lines, silencing of SGK3 reduced PIK3CA(E545K) -but not PIK3CA(H1047R)- induced accelerated tumor cell proliferation. Conclusion Altogether, our data suggest that SGK3 plays a role in transducing helical domain mutant PIK3CA signaling during liver tumor development.

Laiwu pigs, distinguished by their high intramuscular fat of 7–9%, is an indigenous pig breed of China, and recent studies also found that Laiwu pigs showed high resistance to Porcine circovirus type 2. However, with the introduction of commercial varieties, the population of Laiwu pigs has declined, and some lineages have disappeared, which could result in inbreeding. Runs of homozygosity (ROH) can be used as a good measure of individual inbreeding status and is also normally used to detect selection signatures so as to map the candidate genes associated with economically important traits. In this study, we used data from Genotyping by Genome Reducing and Sequencing to investigate the number, length, coverage, and distribution patterns of ROH in 93 Chinese Laiwu pigs and identified genomic regions with a high ROH frequency. The average inbreeding coefficient calculated by pedigree was 0.021, whereas that estimated by all detected ROH segments was 0.133. Covering 13.4% of the whole genome, a total of 7,508 ROH segments longer than 1 Mb were detected, whose average length was 3.76 Mb, and short segments (1–5 Mb) dominated. For individuals, the coverage was in the range between 0.56 and 36.86%. For chromosomes, SSC6 had the largest number (n = 688), and the number of ROH in SSC12 was the lowest (n = 215). Thirteen ROH islands were detected in our study, and 86 genes were found within those regions. Some of these genes were correlated with economically important traits, such as meat quality (ECI1, LRP12, NDUFA4L2, GIL1, and LYZ), immunity capacity (IL23A, STAT2, STAT6, TBK1, IFNG, and ITH2), production (DCSTAMP, RDH16, and GDF11), and reproduction (ODF1 and CDK2). A total of six significant Gene Ontology terms and nine significant Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways were identified, most of which were correlated with disease resistance and biosynthesis processes, and one KEGG pathway was related to lipid metabolism. In addition, we aligned all of the ROH islands to the pig quantitative trait loci (QTL) database and finally found eight QTL related to the intramuscular fat trait. These results may help us understand the characteristics of Laiwu pigs and provide insight for future breeding strategies.

Tree species composition of forest stand is an important indicator of forest inventory attributes for assessing ecosystem health, understanding successional processes, and digitally displaying forest biodiversity. In this study, we acquired high spatial resolution multispectral and RGB imagery over a subtropical natural forest in southwest China using a fixed-wing UAV system. Digital aerial photogrammetric (DAP) technique was used to generate multi-spectral and RGB derived point clouds, upon which individual tree crown (ITC) delineation algorithms and a machine learning classifier were used to identify dominant tree species. To do so, the structure-from-motion method was used to generate RGB imagery-based DAP point clouds. Then, three ITC delineation algorithms (i.e., point cloud segmentation (PCS), image-based multiresolution segmentation (IMRS), and advanced multiresolution segmentation (AMRS)) were used and assessed for ITC detection. Finally, tree-level metrics (i.e., multispectral, texture and point cloud metrics) were used as metrics in the random forest classifier used to classify eight dominant tree species. Results indicated that the accuracy of the AMRS ITC segmentation was highest (F1-score = 82.5 %), followed by the segmentation using PCS (F1-score = 79.6 %), the IMRS exhibited the lowest accuracy (F1-score = 78.6 %); forest types classification (coniferous and deciduous) had a higher accuracy than the classification of all eight tree species, and the combination of spectral, texture and structural metrics had the highest classification accuracy (overall accuracy = 80.20 %). In the classification of both eight tree species and two forest types, the classification accuracies were lowest when only using spectral metrics, indicated that the texture metrics and point cloud structural metrics had a positive impact on the classification (the overall accuracy and kappa accuracy increased by 1.49–4.46 % and 2.86–6.84 %, respectively).

The Jiangquhai (JQ) pig breed is one of the most widely recognized pig populations in China due to its unique and dominant characteristics. In this study, we examined the extent of Linkage disequilibrium (LD) and haplotype block structure of the JQ pig breed, and scanned the blocks for possible genes underlying important QTLs that could either be responsible for some adaptive features in these pigs or might have undergone some selection pressure. We compared some of our results with other Chinese and Western pig breeds. The results show that the JQ breed had the highest total block length (349.73 Mb ≈ 15% of its genome), and the coverage rate of blocks in most of its chromosomes was larger than those of other breeds except for Sus scrofa chromosome 4 (SSC4), SSC6, SSC7, SSC8, SSC10, SSC12, SSC13, SSC14, SSC17, SSC18, and SSCX. Moreover, the JQ breed had more SNPs that were clustered into haplotype blocks than the other breeds examined in this study. Our shared and unique haplotype block analysis revealed that the Hongdenglong (HD) breed had the lowest percentage of shared haplotype blocks while the Shanzhu (SZ) breed had the highest. We found that the JQ breed had an average r2 > 0.2 at SNPs distances 10–20 kb and concluded that about 120,000–240,000 SNPs would be needed for a successful GWAS in the breed. Finally, we detected a total of 88 genes harbored by selected haplotype blocks in the JQ breed, of which only 4 were significantly enriched (p-value ≤ 0.05). These genes were significantly enriched in 2 GO terms (p-value < 0.01), and 2 KEGG pathways (p-value < 0.02). Most of these enriched genes were related to health. Also, most of the overlapping QTLs detected in the haplotype blocks were related to meat and carcass quality, as well as health, with a few of them relating to reproduction and production. These results provide insights into the genetic architecture of some adaptive and meat quality traits observed in the JQ pig breed and also revealed the pattern of LD in the genome of the pig. Our result provides significant guidance for improving the statistical power of GWAS and optimizing the conservation strategy for this JQ pig breed.

Genetic characterization of Chinese indigenous pig breeds is essential to promote scientific conservation and sustainable development of pigs. Here, we systematically surveyed the genomes of 75 unrelated Diannan small-ear (DSE) pigs from three diverse regions (Yingjiang County, Jinping County, and Sipsongpanna in Yunnan Province) to describe their population structures, genetic diversity, inbreeding coefficients, and selection signatures. First, these individuals were sequenced and genotyped using the genome reducing and sequencing (GGRS) protocol. A total of 438,038 autosomal single-nucleotide polymorphisms (SNPs) were obtained and used for subsequent statistical analysis. The results showed that these DSE pigs were clearly differentiated into three separate clades revealed by the population structure and principal component analysis, which is consistent with their geographical origins. Diannan small-ear pigs owned lower genetic diversity when compared with some other pig breeds, which demonstrated the need to strengthen the conservation strategies for DSE pigs. In addition, the inbreeding coefficients based on runs of homozygosity (ROH) length (FROH) were calculated in each ROH length categories, respectively. And the results indicated that the ancient (up to 50 generations ago) inbreeding had greater impacts than recent (within the last five generations) inbreeding within DSE pigs. Some candidate selection signatures within the DSE pig population were detected through the ROH islands and integrated haplotype homozygosity score (iHS) methods. And genes associated with meat quality (COL15A1, RPL3L, and SLC9A3R2), body size (PALM2-AKAP2, NANS, TRAF7, and PACSIN1), adaptability (CLDN9 and E4F1), and appetite (GRM4) were identified. These findings can help to understand the genetic characteristics and provide insights into the molecular background of special phenotypes of DSE pigs to promote conservation and sustainability of the breed.

Abstract Background Cockayne syndrome (CS) is a rare autosomal recessive disorder which displays multiorgan dysfunction, especially within the nervous system including psychomotor retardation, cerebral atrophy, microcephaly, cognitive dysfunction, mental retardation, and seizures. Many genetic variations reported were related to this syndrome, but splicing mutations with cardiac anomalies have not been found in previous studies. Methods Herein, we described a pair of brothers and sisters who present essential manifestations of CS including premature feature, developmental delay, growth failure, microcephaly, and characteristic facial features, such as sunken eyes and a beaked nose. Interestingly, the brother also presented with atypical features which included cardiac anomalies such as left atrioventricular enlargement and cardiac dysfunction such as dilated cardiomyopathy. In addition, whole exome sequencing and RNA sequencing were employed to analyze their genetic landscape. Results WES analysis showed that these two cases carried double unreported heterozygous spliced mutations in the excision repair cross‐complementing group 8 (ERCC8, also known as CSA, NM_000082) gene, which were c.78‐2 (IVS1) A>T and c.1042‐1 (IVS10) G>A, respectively. Moreover, transcript sequencing analysis validated these mutation sites. In this study, Gene Ontology enrichment and KEGG pathway analyses from RNA sequencing demonstrated similarities but some differences when compared with previous studies. Conclusion For patients with Cockayne syndrome, cardiac changes need to be monitored carefully, especially for cases with splicing mutations of the ERCC8 gene.

Selector is considered as a promising solution to solve sneak-path current for high-density 3-Dimensional (3D) memories. However, bidirectional selector with fast speed and long lifetime is still extremely needed. In this work, 2D material of graphene oxide containing epoxide, hydroxyl and carboxyl (-COOH, -OH, >C=O) is assembled with HfO2 to form a flexible bi-layer selector. Interestingly, the selector exhibits excellent uniformity, fast switching speed (~160 ns) and remarkable endurance of ~5×108 cycles. Moreover, no performance degradation is observed for more than 103 times with the bending radii ranging from 40 mm to 20 mm. The high uniformity and excellent endurance may be attributed to the insulating interface layer at the HfO2/GO interface, which plays a vital role on the connection/disrupt of conductive filament (CF). Thus, the incorporation of GO into HfO2 selector may be a feasible way to achieve a promising HfO2-based selector, which have potential applications in high-density 3D integration for flexible electronics.

Abstract Background Fibroblast growth factor 23 (FGF23) and insulin-like growth factor binding protein 7 (IGFBP-7) are suggested to be biomarkers for predicting acute kidney injury (AKI). We compared them with proposed AKI biomarker of cystatin C (CysC), and aimed (1) to examine whether concentrations of these biomarkers vary with age, body weight, illness severity assessed by pediatric risk of mortality III score, and kidney function assessed by estimated glomerular filtration rate (eGFR), (2) to determine the association between these biomarkers and AKI, and (3) to evaluate whether these biomarkers could serve as early independent predictors of AKI in critically ill children. Methods This prospective single center study included 144 critically ill patients admitted to the pediatric intensive care unit (PICU) regardless of diagnosis. Serum and spot urine samples were collected during the first 24 h after PICU admission. AKI was diagnosed based on the AKI network (AKIN) criteria. Results Twenty-one patients developed AKI within 120 h of sample collection, including 11 with severe AKI defined as AKIN stages 2 and 3. Serum FGF23 levels were independently associated with eGFR after adjustment in a multivariate linear analysis (P

Jinhua pig, a well-known Chinese indigenous breed, has evolved as a pig breed with excellent meat quality, greater disease resistance, and higher prolificacy. The reduction in the number of Jinhua pigs over the past years has raised concerns about inbreeding. Runs of homozygosity (ROH) along the genome have been applied to quantify individual autozygosity to improve the understanding of inbreeding depression and identify genes associated with traits of interest. Here, we investigated the occurrence and distribution of ROH using next-generation sequencing data to characterize autozygosity in 202 Jinhua pigs, as well as to identify the genomic regions with high ROH frequencies within individuals. The average inbreeding coefficient, based on ROH longer than 1 Mb, was 0.168 ± 0.052. In total, 18,690 ROH were identified in all individuals, among which shorter segments (1–5 Mb) predominated. Individual ROH autosome coverage ranged from 5.32 to 29.14% in the Jinhua population. On average, approximately 16.8% of the whole genome was covered by ROH segments, with the lowest coverage on SSC11 and the highest coverage on SSC17. A total of 824 SNPs (about 0.5%) and 11 ROH island regions were identified (occurring in over 45% of the samples). Genes associated with reproduction (HOXA3, HOXA7, HOXA10, and HOXA11), meat quality (MYOD1, LPIN3, and CTNNBL1), appetite (NUCB2) and disease resistance traits (MUC4, MUC13, MUC20, LMLN, ITGB5, HEG1, SLC12A8, and MYLK) were identified in ROH islands. Moreover, several quantitative trait loci for ham weight and ham fat thickness were detected. Genes in ROH islands suggested, at least partially, a selection for economic traits and environmental adaptation, and should be subject of future investigation. These findings contribute to the understanding of the effects of environmental and artificial selection in shaping the distribution of functional variants in the pig genome.