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Abstract Background and objectives Congenital heart defect (CHD) is one of the most common birth defects. The aim of this cohort study was to evaluate the prevalence of chromosomal abnormalities and the clinical utility of chromosomal microarray analysis (CMA) in fetuses with different types of CHD, aiming to assist genetic counseling and clinical decision-making. Methods In this study, 642 fetuses with CHD were enrolled from a single center over a six-year period (2017–2022). Both conventional karyotyping and CMA were performed simultaneously on these fetuses. Results The diagnostic yield of CMA in fetuses with CHD in our study was 15.3% (98/642). Our findings revealed a significant increase in the diagnostic yield of CMA compared to karyotyping in fetuses with CHD. Among CHD subgroups, the diagnostic yields were high in complex CHD (34.9%), conotruncal defects (28.6%), right ventricular outflow tract obstructive defects (RVOTO) (25.9%), atrioventricular septal defects (AVSD) (25.0%) and left ventricular outflow tract obstructive defects (LVOTO) (24.1%), while those in other CHD (10.6%) and septal defects (10.9%) were relatively low. The overall detection rate of clinically significant chromosomal abnormalities was significantly higher in the non-isolated CHD group compared to the isolated CHD group (33.1% vs. 9.9%, P

Vascular smooth muscle cells (VSMCs) are integral to the pathophysiology of cardiovascular diseases (CVDs). Enhancer of zeste homolog 2 (EZH2), a histone methyltransferase, plays a crucial role in epigenetic regulation of VSMCs gene expression. Emerging researches suggest that EZH2 has a dual role in VSMCs, contingent on the pathological context of specific CVDs. This mini-review synthesizes the current knowledge on the mechanisms by which EZH2 regulates VSMC proliferation, migration and survival in the context of CVDs. The goal is to underscore the potential of EZH2 as a therapeutic target for CVDs treatment. Modulating EZH2 and its associated epigenetic pathways in VSMCs could potentially ameliorate vascular remodeling, a key factor in the progression of many CVDs. Despite the promising outlook, further investigation is warranted to elucidate the epigenetic mechanisms mediated by EZH2 in VSMCs, which may pave the way for novel epigenetic therapies for conditions such as atherosclerosis and hypertension.

BackgroundThe mechanism of pulmonary arterial hypertension (PAH) after surgery/intervention for isolated venticlular septal defect (VSD) in children is unknown. Reliable prognostic indicators for predicting postoperative PAH are urgently needed. Prognostic nutration index (PNI) is widely used to predict postoperative complications and survival in adults, but it is unclear whether it can be used as an indicator of prognosis in children.MethodsA total of 251 children underwent VSD repair surgery or interventional closure in Hunan Children's Hospital from 2020 to 2023 were collected. A 1:1 propensity score matching (PSM) analysis was performed using the nearest neighbor method with a caliper size of 0.2 Logistics regression analysis is used to examine factors associated with the development of PAH.ResultsThe cut-off value for PNI was determined as 58.0. After 1:1 PSM analysis, 49 patients in the low PNI group were matched with high PNI group. Children in the low PNI group had higher risk of postoperative PAH (P = 0.002) than those in the high PNI group. Multivariate logistics regression analysis showed that PNI (RR: 0.903, 95% CI: 0.816–0.999, P = 0.049) and tricuspid regurgitation velocity (RR: 4.743, 95% CI: 1.131–19.897, P = 0.033) were independent prognostic factors for the development of PAH.ConclusionPNI can be used as a prognostic indicator for PAH development after surgery/intervention in children with isolated VSD.

This paper introduces an innovative cooperative model for energy efficiency retrofitting that incorporates carbon emission rights, addressing critical financial constraints in Energy Performance Contracting (EPC). By employing the fuzzy analytic hierarchy process (F-AHP) to evaluate risk assessment indicators and stakeholder contributions and utilizing the enhanced Shapley method for equitable benefit distribution, the model demonstrates significant improvements in financing and efficiency for energy conservation projects. The findings are as follows: (1) the energy efficiency retrofit model, which integrates carbon emission rights, effectively alleviates the financial constraints and fosters energy conservation and emission reduction in guaranteed-savings EPC projects; (2) the enhanced Shapley method is deemed appropriate for the equitable distribution of energy-saving benefits among stakeholders; (3) when compared with the traditional model and the benefit allocation-absent carbon rights, the energy-saving benefits of the energy efficiency retrofit model incorporating carbon emission rights are higher in individual and overall terms. The findings of this study offer a viable solution to financing challenges faced by stakeholders in such projects and delineate a pragmatic approach for enterprises to enhance energy efficiency and reduce emissions.

The Greenhouse Gases Monitoring Instrument is based on the spectroscopic principle of spatial heterodyne spectroscopy technology and has the characteristics of no moving parts, a hyperspectral resolution, and a large luminous flux. The instrumental line shape function is one of the most important parameters characterizing the features of the instrument, and it plays a vital role in the system error analysis of the instrument’s measurements. To accurately obtain the instrumental line shape function of a spatial heterodyne spectrometer during the on-orbit period and improve the accuracy of gas concentration retrieval, this study develops a method to model and characterize the characteristics of the instrumental line shape function, including modulation loss and phase error. This study employs the solar calibration spectrum in the 1.568–1.583 μm bands to conduct iterative calculations of the instrumental line shape function error model. After the instrumental line function is updated, the average relative deviation is reduced from 1.83% to 0.756% between the theoretical and measured solar spectra. Additionally, the average relative deviation is reduced from 7.049% to 2.106% between the GMI nadir and theoretical nadir spectra. The findings demonstrate that updating the instrumental line shape function mitigates the impact of variations in the spectrometer’s instrumental line shape due to alterations in the orbital environment. This study offers a dependable reference for both the enhancement and oversight of a spectrometer’s instrumental line shape function, along with an investigation of shifts in instrument parameters.

Abstract Background With the increasing aging population, dementia has become a significant socioeconomic burden. However, the effects of albumin on delayed recall (DR) impairment remain unclear, and there are limited reports on sex and race differences in this relationship. This study aimed to investigate the association between albumin levels and DR impairment in older adults. Methods A total of 1507 normal cognitive function and 553 DR impairment from the National Health and Nutrition Examination Survey (NHANES) 2011–2014 were included in this cross‐sectional analysis. Participants aged 60 years and above were assessed using the Consortium to Establish a Registry for Alzheimer's Disease DR (CERAD‐DR) test to evaluate cognitive function. Participants were categorized into DR impairment and normal cognitive function groups according to their CERAD‐DR scores. Logistic regression analyses, generalized additive models, and fitted smoothing curves were utilized for data analysis. Results After adjusting for potential confounders, a negative association was found between albumin levels and cognitive function (odds ratio [OR] = 0.60, 95% confidence interval [CI] 0.41–0.87). Subgroup analysis stratified by sex, race/ethnicity, and age revealed that the negative association remained significant in men (OR = 0.53, 95%CI 032–0.87), Blacks (OR = 0.35, 95%CI 0.17–0.74), and the age group of 60–70 years (OR = 0.48, 95%CI 0.28–0.81). However, no significant association was observed in women (OR = 0.72, 95%CI 0.41–1.28), whites (OR = 0.58, 95%CI 0.31–1.07), or Mexican Americans (OR = 1.11, 95%CI 0.35–3.46), as well as the age group of 71–80 years (OR = 0.62, 95%CI 0.37–1.03). Conclusions Our study suggests that elevated albumin levels are associated with a decreased incidence of cognitive function impairment, particularly in older men and Blacks. This finding indicates that maintaining high levels of albumin may be beneficial for cognitive function in older adults.

Background and purpose: Intellectual disability-7 (MRD7) is a subtype disorder of intellectual disability (MRD) involving feeding difficulties, hypoactivity, and febrile seizures at an age of early onset, then progressive intellectual and physical development deterioration. We purposed to identify the underlying causative genetic factors of three individuals in each Chinese family who presented with symptoms of intellectual disability and facial dysmorphic features. We provided prenatal diagnosis for the three families and genetic counseling for the prevention of this disease.Methods: We collected retrospective clinical diagnostic evidence for the three probands in our study, which included magnetic resonance imaging (MRI), computerized tomography (CT), electroencephalogram (EEG), and intelligence tests for the three probands in our study. Genetic investigation of the probands and their next of kin was performed by Trio-whole exome sequencing (WES). Sanger sequencing or quantitative PCR technologies were then used as the next step to verify the variants confirmed with Trio-WES for the three families. Moreover, we performed amniocentesis to explore the state of the three pathogenic variants in the fetuses by prenatal molecular genetic diagnosis at an appropriate gestational period for the three families.Results: The three probands and one fetus were clinically diagnosed with microcephaly and exhibited intellectual developmental disability, postnatal feeding difficulties, and facial dysmorphic features. Combining probands’ clinical manifestations, Trio-WES uncovered the three heterozygous variants in DYRK1A: a novel variant exon3_exon4del p.(Gly4_Asn109del), a novel variant c.1159C>T p.(Gln387*), and a previously presented but rare pathogenic variant c.1309C>T p.(Arg437*) (NM_001396.5) in three families, respectively. In light of the updated American College of Medical Genetic and Genomics (ACMG) criterion, the variant of exon3_exon4del and c.1159C>T were both classified as likely pathogenic (PSV1+PM6), while c1309C>T was identified as pathogenic (PVS1+PS2_Moderate+PM2). Considering clinical features and molecular testimony, the three probands were confirmed diagnosed with MRD7. These three discovered variants were considered as the three causal mutations for MRD7. Prenatal diagnosis detected the heterozygous dominant variant of c.1159C>T p.(Gln387*) in one of the fetuses, indicating a significant probability of MRD7, subsequently the gestation was intervened by the parents’ determination and professional obstetrical operation. On the other side, prenatal molecular genetic testing revealed wild-type alleles in the other two fetuses, and their parents both decided to sustain the gestation.Conclusion: We identified two novel and one rare mutation in DYRK1A which has broadened the spectrum of DYRK1A and provided evidence for the diagnosis of MRD7 at the molecular level. Besides, this study has supported the three families with MRD7 to determine the causative genetic factors efficiently and provide concise genetic counseling for the three families by using Trio-WES technology.

Abstract Microwave photonic sensors are promising for improving sensing resolution and speed of optical sensors. In this paper, a high-sensitivity, high-resolution temperature sensor based on microwave photonic filter (MPF) is proposed and demonstrated. A micro-ring resonator (MRR) based on silicon-on-insulator is used as the sensing probe to convert the wavelength shift caused by temperature change to microwave frequency variation via the MPF system. By analyzing the frequency shift with high-speed and high-resolution monitors, the temperature change can be detected. The MRR is designed with multi-mode ridge waveguides to reduce propagation loss and achieves an ultra-high Q factor of 1.01 × 106. The proposed MPF has a single passband with a narrow bandwidth of 192 MHz. With clear peak-frequency shift, the sensitivity of the MPF-based temperature sensor is measured to be 10.22 GHz/°C. Due to higher sensitivity and ultra-narrow bandwidth of the MPF, the sensing resolution of the proposed temperature sensor is as high as 0.019 °C. Graphical Abstract

ObjectiveTo determine the reasons why pulmonary hypertension (PH) children refused vaccination against COVID-19, evaluate the safety and efficacy of COVID-19 vaccine in PH children.Study designThis retrospective cohort study included congenital heart disease-associated pulmonary arterial hypertension (CHD-PAH) and bronchopulmonary dysplasia associated PH (BPD-PH) children who were divided into vaccinated group and non-vaccinated group. Univariate logistic regression analysis and multivariate logistic regression analysis were conducted to explore the reasons why PH children refused COVID-19 vaccine. Then, the prevalence, the number of symptoms, and the severity of COVID-19 disease were compared between the vaccinated and unvaccinated groups.ResultWe included 73 children and 61 children (83.6%) were unvaccinated. The main reasons for not being vaccinated were fear of worsening of existing diseases (31%). Age

Abstract Background Status epilepticus (SE) is a neurological emergency associated with high mortality and morbidity. Many SE episodes cannot be quickly and effectively terminated with current medications. miRNA-Let-7i, a member of the miRNA-Let-7 family, has been found to be associated with a variety of brain pathophysiological and neurological diseases. However, its role in SE remains elusive and requires further clarification. Methods The expression of miRNA-Let-7i was detected in temporal lobe epilepsy (TLE) patients and SE model rats using the real-time quantitative polymerase chain reaction (RT-qPCR) method. Behavioral assays were performed in pilocarpine-induced SE model, and a whole-cell current clamp technique was employed to examine neuronal excitability. Neuronal apoptosis was evaluated by Nissl staining and terminal deoxynucleotidyl transferase-mediated dUTP end-labeling (TUNEL) assays. Results The expression of miRNA-Let-7i was significantly reduced in the cortex and hippocampus of SE rats. The miRNA-Let-7i agomir and antagomir effectively regulated the levels of miRNA-Let-7i. In particular, the agomir significantly reduced the degree of SE and prolonged the latent period of SE, whereas the antagomir increased the degree of seizures and shortened the latent period. In addition, the agomir significantly decreased the frequency of action potentials, while the antagomir significantly increased it. Nissl staining and TUNEL assays demonstrated that the agomir increased the survival and decreased the apoptosis, while the antagomir had the opposite effects. In addition, a Toll-like receptor 4 (TLR4) inhibitor rescued the effects of antagomir on SE behavior and expression of IL-6 and TNF-α. Similar results on miRNA-Let-7i expression and effects of TLR4 inhibition were found in brain tissues of TLE patients. Conclusions The miRNA-Let-7i − TLR4 regulatory pathway is involved in SE, which provides insights into the pathogenesis of SE.

Cucumber belongs to the family Cucurbitaceae (melon genus) and is an annual herbaceous vegetable crop. Cucumber is an important cash crop that is grown all over the world. From morphology to cytology, from canonical genetics to molecular biology, researchers have performed much research on sex differentiation and its regulatory mechanism in cucumber, mainly in terms of cucumber sex determination genes, environmental conditions, and the effects of plant hormones, revealing its genetic basis to improve the number of female flowers in cucumber, thus greatly improving the yield of cucumber. This paper reviews the research progress of sex differentiation in cucumber in recent years, mainly focusing on sex-determining genes, environmental conditions, and the influence of phytohormones in cucumber, and provides a theoretical basis and technical support for the realization of high and stable yield cultivation and molecular breeding of cucumber crop traits.

Abstract Background Previous epidemiological studies have indicated that high‐density lipoprotein cholesterol (HDL‐C) is inversely associated with the risk of cardiovascular disease. However, this issue has aroused controversy in recent years. Besides, the relationship between HDL‐C and the risk of total stroke in sex and race is less clear. Thus, we aimed to examine the association between different ranges of HDL‐C and the risk of total stroke in adults over 40 years old. Methods This cross‐sectional study was conducted on a sample of 8643 participants (4222 men and 4421 women) aged ≥40 years old from the National Health and Nutrition Examination Survey 2007–2016. HDL‐C was an independent variable and stroke was a dependent variable in this study, with the other variables as potential effect modifiers. To examine the associations between them, we used multivariate logistical regression models and smooth curve fittings, as well as subgroup analyses. Results HDL‐C was inversely associated with stroke when HDL‐C was less than 1.55 mmol/L (odds ratio [OR] = 0.36, 95% confidence interval [CI] :0.21–0.62, p .05). Stratified by race/ethnicity and sex, the subgroup analyses demonstrated that HDL‐C was inversely associated with stroke in men and Whites, but no significant differences among women, Mexicans, blacks, and other races. Conclusion We found a nonlinear relationship between HDL‐C and total stroke. Our study reveals a range of inverse associations between HDL‐C and stroke (HDL‐C

Coal-fired power plants, as major anthropogenic CO2 emission sources, constitute one of the largest contributors to global greenhouse gas emissions. Accurately calculating the dispersion process of CO2 emissions from these point sources is crucial, as it will aid in quantifying CO2 emissions using remote sensing measurements. Employing the Lagrangian Particle Dispersion Theory Model (LPDTM), our study involves modeling CO2 diffusion from point sources. Firstly, we incorporated high-resolution DEM (Digital Elevation Model) and artificial building elements obtained through the Adaptive Deep Learning Location Matching Method, which is involved in CO2 simulation. The accuracy of the results was verified using meteorological stations and aircraft measurements. Additionally, we quantitatively analyzed the influence of terrain and artificial building characteristics on high spatial resolution atmospheric CO2 diffusion simulations, revealing the significance of surface characteristics in dispersion modeling. To validate the accuracy of the LPDTM in high-resolution CO2 diffusion simulation, a comparative experiment was conducted at a power plant in Yangzhou, Jiangsu Province, China. The simulated result was compared with observation from aerial flights, yielding the R2 (Correlation Coefficient) of 0.76, the RMSE (Root Mean Square Error) of 0.267 ppm, and the MAE (Mean Absolute Error) of 0.2315 ppm for the comparison of 73 pixels where the plume intersected with flight trajectories. The findings demonstrate a high level of consistency between the modeled CO2 point source plume morphology and concentration quantification and the actual observed outcomes. This study carried out a quantitative assessment of the influence of surface features on high-resolution atmospheric CO2 point source diffusion simulations, resulting in an enhanced accuracy of the simulated CO2 concentration field. It offers essential technological and theoretical foundations for the accurate quantification of anthropogenic CO2 emissions using top-down approaches.

Abstract Objective This study aimed to compare the diagnostic value of the single or combined applications of transient elastography (TE) and multivariate indicators with biopsy for the detection of liver fibrosis in children caused by chronic hepatitis B (CHB). Methods This study included 148 CHB children treated at Hunan Children’s Hospital from January 1st 2015 to December 31st 2018, aged from 0.83 to 14.58 years old. All patients underwent liver biopsy (LB), of which 43 patients underwent TE. Multiple clinical data, including aspartate aminotransferase (AST), alanine aminotransferase (ALT), Platelet (PLT), and HBV-deoxyribonucleic acid (HBV DNA) of all patients were collected. The diagnostic values for CHB of TE and its combinations with these indicators were measured. The patients were classified in two ways: no hepatic fibrosis group (F0) versus fibrosis group (F ≥ 1), and no significant hepatic fibrosis group (F

ObjectiveEveryone in life will experience resource scarcity, which causes self-discrepancy. It is widely known that individuals participate in reactive consumption to solve the problems of self-discrepancy and resources scarcity. This kind of consumption may be symbolically related to the essence of the resource scarcity or may occur in an unrelated domain. This study proposes a theory for "filling up" one's resource scarcity through high-intensity sensory consumption (HISC).MethodsWe used different methods, including one-way analysis of variance (ANOVA), linear regression, mediating effect, and moderating effect, to test the four hypotheses. Four experiments in the study were conducted from May 2022 and August 2022 and involved undergraduates from a university and volunteers recruited online. All participants are adults and verbally agree to participate voluntarily. Study 1a (N = 96 (male 47, female 49), participants from a business school in China) measured resource scarcity in the laboratory experiments and verified the effect of resource scarcity on consumer HISC preference by using linear regression (H1). Study 1b (N = 191 (male 98, female 93), students and teachers from a university in China) measured resource scarcity in the laboratory experiments and manipulated positively and negatively valenced experiences. Using the PROCESS SPSS Mode l, we verified that negatively valenced stimuli also lead to higher levels of arousal, which in turn restores the self-discrepancy caused by resource scarcity (H2). Study 2 (an online experiment, N = 182 (male 91, female 91), participants from China) manipulated the resource scarcity in a color sensory stimulant context, replicating the preliminary effect and examined the mediating effect of the self-worth by using the PROCESS SPSS Mode 4 (H3). Study 3 (an online experiment, N = 251 (male 125, female 126), participants from China) manipulated resource scarcity and self-acceptance in the tactile sensory experience, and tested the moderating effect of self-acceptance by using the PROCESS SPSS Mode 8 (H4).ResultsFour studies suggest that not only do individuals facing resources scarcity prefer HISC but also that this consumption is mediated and moderated by self-worth and self-acceptance, respectively. This preference for HISC is negated when individuals have high self-acceptance traits. The findings are tested in the auditory domain (as evidenced by a propensity for louder volume), the visual domain (as evidenced by a propensity for more intense colors), and the tactile domain (as evidenced by a propensity for more intense need for touch). The findings also demonstrate that individual preferences for HISC is shown to operate regardless of the valence (positive valence vs. negative valence) of the sensory consumption.ConclusionsAcross four experiments, we find that individuals who are subjected to resource scarcity show a preference for high-intensity sensory consumption in the auditory, visual, and tactile domains. We also find that both negatively and positively valenced sensory stimuli have the same impact on resource-scarce individuals' preference for HISC. Furthermore, we demonstrate that the sense of self-worth significantly mediates the effect of resource scarcity on HISC. Finally, we reveal that self-acceptance moderates the effect of resource scarcity on HISC preference.

Abstract Background This study aimed to probe and verify aberrantly methylated and expressed genes in hepatoblastoma and to analyze their interactions with tumor immune microenvironment. Methods Aberrantly methylated and expressed genes were obtained by comprehensively analyzing gene expression and DNA methylation profiles from GSE81928, GSE75271 and GSE78732 datasets. Their biological functions were predicted by the STRING and Metascape databases. CIBERSORT was utilized for inferring the compositions of tumor-infiltrating immune cells (TIICs) in each sample. Correlation between hub genes and immune cells was then analyzed. Hub genes were validated in hepatoblastoma tissues via western blot or immunohistochemistry. After transfection with sh-NOTUM, migration and invasion of HuH-6 and HepG2 cells were investigated. The nude mouse tumorigenesis model was constructed. Results Totally, 83 aberrantly methylated and expressed genes were determined in hepatoblastoma, which were mainly involved in metabolic and cancer-related pathways. Moreover, their expression was liver-specific. 13 hub genes were screened, which were closely related to immune cells in hepatoblastoma tissues. Among them, it was confirmed that AXIN2, LAMB1 and NOTUM were up-regulated and SERPINC1 was down-regulated in hepatoblastoma than normal tissues. NOTUM knockdown distinctly weakened migration and invasion of HuH-6 and HepG2 cells and tumor growth in vivo. Conclusions This study identified aberrantly methylated and expressed signatures that were in relation to immune microenvironment in hepatoblastoma. Targeting NOTUM hub gene could suppress migration and invasion of hepatoblastoma cells. Thus, these aberrantly methylated and expressed genes might act as therapeutic agents in hepatoblastoma therapy.

Background and aimsConcurrent hearing and genetic screening of newborns have been widely adopted as an effective strategy in early diagnosis and intervention for hearing loss in many cities in China. Here, we aimed to firstly explore the efficacy of combining conventional hearing screening with genetic screening among the large-scale newborns in Jiangxi Province.MethodsA total of 24,349 newborns from Jiangxi Maternal and Child Health Hospital were enrolled in our study from April 2021 to June 2022. Newborn hearing screening was conducted using otoacoustic emission (OAE) and automated auditory brainstem response (AABR). Meanwhile, newborn dried blood spots were collected and twenty common variants in four genes, including GJB2, SLC26A4, MT-RNR1(12SrRNA), and GJB3, were screened using a BGISEQ-500 next generation sequencing platform. Whole coding regions sequencing of GJB2 and SLC26A4 were performed by Sanger sequencing and NGS, respectively. Following up of hearing for the newborns was undertaken by phone interviews.ResultsAmong the 24,349 newborns, 7.00% (1,704/24,349) were bilaterally or unilaterally referred in their initial hearing screening, whereas 1.30% (316/24,349) exhibited bilateral or unilateral hearing loss in the repeated screening. Genetic screening revealed that 4.813% (1,172/24,349) of the screened newborns were positive for at least one mutant allele (heterozygote, homozygote, or compound heterozygote in one gene, mtDNA homoplasmy or heteroplasmy and combined variants in different genes). A total of 1,146 individuals were identified with mutant allele in one gene, including 525 of GJB2, 371 of SLC26A4, 189 as homoplasmic or heteroplasmic of MT-RNR1, and 61 of GJB3, indicating that GJB2 and SLC26A4 are the most common endemic deafness-associated genes among newborns in Jiangxi Province. Nineteen newborns were detected with combined heterozygous variants in different genes, with “c.235delC heterozygous and c.919-2A > G heterozygous” as the most prevalent genotype. Additionally, seven newborns were screened as homozygotes or compound heterozygotes responsible for congenital or late-onset prelingual hearing loss, including three cases with GJB2 c.235delC homozygous and one with SLC26A4 c.919-2A > G homozygous variant, one case with compound heterozygous variants for GJB2 and two with compound heterozygous variants for SLC26A4. Coding regions sequencing of GJB2 or SLC26A4 for overall 265 infants revealed that 14 individuals were identified as compound heterozygote with a second pathogenic variant not screened by our genetic panel.ConclusionsHerein our study firstly investigated the efficacy of concurrent hearing screening and genetic screening of common hearing impairment variants among large-scale newborns in Jiangxi Province. Concurrent screening provides a more comprehensive approach for management of congenital or delayed onset prelingual hearing loss and prevention of drug-induced hearing impairment for newborns at risk as well as their maternal relatives. An insight into the molecular epidemiology for hearing loss genes among Jiangxi population will also be beneficial to the genetic counseling and birth defect prevention.

Background and aims: Hemoglobinopathy associated with the HBB gene, with its two general subtypes as thalassemia and abnormal hemoglobin (Hb) variants, is one of the most prevalent hereditary Hb disorders worldwide. Herein we aimed to elucidate the prevalence of ß-thalassemia and abnormal hemoglobin variants and the prenatal diagnosis of the HBB gene in Jiangxi Province, southern central China.Methods: Hematological indices and capillary Hb electrophoresis were conducted for 136,149 subjects who were admitted to Jiangxi Maternal and Child Health Hospital and requested for hemoglobinopathy investigation. Routine α- and ß-globin genotyping were performed by gap-polymerase chain reaction (Gap-PCR) and reverse dot-blot (RDB) hybridization for the 11,549 individuals suspected to be thalassemia carriers. For participants whose genotypes could not explain their hematological indices, further Sanger sequencing and Gap-PCR were conducted for the detection of rare or novel variants in related globin genes. Prenatal diagnosis was performed for 77 pregnant couples both carrying ß-thalassemia trait at appropriate gestational ages.Results: Among the 11,549 subjects, 2,548 individuals were identified with HBB-associated hemoglobinopathy based on molecular analysis. A total of 2,358 subjects were identified as ß-thalassemia heterozygous carriers and nine cases were diagnosed as compound heterozygous ß-thalassemia. Additionally, 125 cases were detected with composite α- and ß-thalassemia and the remaining 56 individuals with abnormal Hb variants in the HBB. A total of 35 types of variants were identified in the HBB gene, including 26 types of ß-thalassemia and nine types of abnormal Hb variants. Four novel variants were firstly reported, including one variant in HBA2 and three variants in HBB. Overall, 77 prenatal samples underwent ß-thalassemia molecular diagnosis; 20 fetuses were identified with normal ß-thalassemia genotypes, 30 fetuses as ß-thalassemia heterozygotes, 11 as homozygotes, and 16 as compound heterozygotes in HBB.Conclusion: We have demonstrated a relatively high prevalence rate at 1.872% of ß-hemoglobinopathies including common and rare ß-thalassemia as well as abnormal Hb variants among large child-bearing population in the Jiangxi area of southern central China for the first time. Our data presents that prenatal diagnosis is an effective way to prevent and control birth defects of ß-thalassemia.

Detecting and classifying defects on unpatterned wafers is a key part of wafer front-end inspection. Defect inspection schemes vary depending on the type and location of the defects. In this paper, the structure of the prototype is designed to meet the requirements of wafer surface and edge defect inspection. This prototype has four inspection channels: scattering, reflection, phase, and contour, with two working conditions: surface and edge inspection. The key structure of the prototype was simulated using Ansys. The simulation results show that the maximum deformation of the optical detection subsystem is 19.5 μm and the fundamental frequency of the prototype is 96.9 Hz; thus, these results meet the requirements of optical performance stability and structural design. The experimental results show that the prototype meets the requirements of the inspection sensitivity better than 200 nm equivalent PSL spherical defects.

Background and PurposeInfantile neuroaxonal dystrophy (INAD) is a subtype of PLA2G6-Associated Neurodegeneration (PLAN) with an age of early onset and severe clinical phenotypes of neurodegeneration. Individuals affected with INAD are characterized by rapid progressive psychomotor deterioration, neuroregression, and hypotonia followed by generalized spasticity, optic atrophy, and dementia. In this case, we aimed to identify the underlying causative genetic factors of a Chinese family with two siblings who presented with walking difficulty and inability to speak. We provided a prenatal diagnosis for the family and information for the prevention of this genetic disease.MethodsRetrospective clinical information and magnetic resonance imaging (MRI) findings of the proband were collected. Trio-whole exome sequencing (WES) including the proband and his parents was performed to explore the genetic causes, while Sanger sequencing was subsequently used to validate the variants identified by Trio-WES in the pedigree. Furthermore, prenatal molecular genetic diagnosis was carried out through amniocentesis to investigate the status of pathogenic mutations in the fetus by Sanger sequencing at an appropriate gestational age.ResultsThe two siblings were both clinically diagnosed with rapid regression in psychomotor development milestones. Brain MRI showed cerebellar atrophy and typical bilaterally symmetrical T2/FLAIR hyperintense signal changes in periventricular areas, indicating periventricular leukomalacia, and myelin sheath dysplasia. Trio-WES revealed two heterozygous variants in PlA2G6 associated with clinical manifestations in the proband: a novel maternally inherited variant c.217C>T (p.Gln73*) and a previously reported paternally inherited recurrent pathogenic variant c.1894C>T (p.Arg632Trp). These two heterozygous mutations were also detected in the younger brother who had similar clinical features as the proband. The novel variant c.217C>T was classified as “pathogenic (PVS1 + PM2 + PP3),” while the variant c.1894C>T was “pathogenic” (PS1 + PM1 + PM2 + PM3 + PP3) based on the latest American College of Medical Genetics and Genomics (ACMG) guidelines on sequence variants. Combining the molecular evidence and clinical phenotypes, the diagnosis of INAD was established for the two affected siblings. The two variants that were identified were considered the causative mutations for INAD in this family. Prenatal diagnosis suggested compound heterozygous mutations of c.217C>T and c.1894C>T in the fetus, indicating a high risk of INAD, and the parents chose to terminate the pregnancy.ConclusionWe identified a novel pathogenic mutation that broadens the mutation spectrum of PLA2G6 and will provide clues for the molecular diagnosis of INAD. Furthermore, our study has helped to elucidate the causative genetic factors of this Chinese family with INAD effectively and efficiently by using the emerging Trio-WES strategy and providing precise genetic counseling for this family.

Multifocal atrial tachycardia (MAT) is defined as irregular P-P, R-R, and P-R intervals, isoelectric baseline between P waves, and ventricular rate over 100 beats/min. Although the prognosis of pediatric MAT in most patients is favorable, adverse outcomes of MAT have been reported, such as cardiogenic death (3%), respiratory failure (6%), or persistent arrhythmia (7%), due to delayed diagnosis and poorly controlled MAT. Previous studies demonstrated that pediatric MAT is associated with multiple enhanced automatic lesions located in the atrium or abnormal automaticity of a single lesion located in the pulmonary veins via multiple pathways to trigger electrical activity. Recent studies indicated that pediatric MAT is associated with the formation of a re-entry loop, abnormal automaticity, and triggering activity. The occurrence of pediatric MAT is affected by gestational disease, congenital heart disease, post-cardiac surgery, pulmonary hypertension, and infectious diseases, which promote MAT via inflammation, redistribution of the autonomic nervous system, and abnormal ion channels. However, the pathogenesis of MAT needs to be explored. This review is aimed to summarize and analyze the pathogenesis in pediatric MAT.

The wafer eccentricity deviation caused by misalignment between the center of the wafer and rotary table will lead to edge image distortion and quality degradation of the defect signals during automated inspection. However, wafer end jump and edge topography change will bring great challenges to the accurate measurement of micrometer deviations. A new wafer eccentricity deviation measurement method based on line-scanning chromatic confocal sensors (LSCCSs) is proposed. Firstly, the LSCCS with Z-axis submicron resolution used in the experiment acquires the 3D profile height of the wafer edge as the turntable rotates, and the edge distance is calculated at each rotation angle. Secondly, a robust Fourier-LAR fitting method is used to fit edge distance serial to reduce sensitivity to outliers. Finally, the wafer eccentricity deviation that is equal to the wafer center coordinate can be calculated using the wafer eccentricity deviation model. In the simulated experiment, the results show that the eccentricity deviation measurement accuracy was insensitivity to noise and reached the micron level. Additionally, the measurement uncertainty of eccentricity deviation coordinate Xw,Yw was (0.53 µm, 1.4 µm) in the actual data of the 12-inch wafers.

Satellite remote sensing is currently the best monitoring means to obtain global carbon source and sink data. The United States, Japan, China and other countries are vigorously developing spaceborne detection technology. However, the important factors that restrict the application of greenhouse gas satellite remote sensing technology include the limited accuracy of data products. How to improve the retrieval level of greenhouse gas payloads is a problem that needs to be solved urgently. One effective way to improve data quality is to carry out satellite ground synchronous authenticity verification and system error correction. This paper mainly aims at the shortcomings of the existing TCCON and the portable verification equipment EM27/SUN, and develops a High-Resolution Fourier Transform Spectrometer (HRFTS) based on dynamic collimation technology. Through the gas absorption method and the band scanning method of the hyperspectral monochromatic light source, the instrument’s absorption spectrum measurement capability and the Instrument Line Shape (ILS) are demonstrated. The instrument’s spectral resolution is consistent with the on-orbit greenhouse gas satellite load, reaching 0.26 cm−1. For the interference data obtained by the spectrometer, spectral restoration processing, data quality control and inversion algorithm optimization were carried out to solve the problems of baseline correction, spectral fine registration, and environmental parameter profile reconstruction, and cross comparison experiments with EM27/SUN were carried out simultaneously. Finally, for the gases monitoring instrument (GMI) of the GF5-02 satellite launched on 7 September 2021, the first satellite ground synchronization verification experiment with high space-time matching was carried out. The results showed that the CO2 column concentration deviation of the satellite ground synchronization inversion was about 1.5 ppm, and the CH4 column concentration deviation was about 11.3 ppb, which verified the on-orbit detection accuracy of the GMI, and laid a foundation for the subsequent satellite inversion algorithm optimization and systematic error correction.

The O2 A-band night glow can be used to retrieve the temperature in the range of 80–120 km in the mesosphere and lower thermosphere (MLT). From the full spectrum of A-band night glow, the band used to retrieve temperature is selected based on the sensitivity of the emission line on temperature, taking into account the compromise relationship between the spectral band and resolution, inversion efficiency, and inversion accuracy. The non-linear iterative inversion method based on optimization theory is adopted for the retrieval of temperature. Meanwhile, considering the stability of inversion, Tikhonov regularization matrix is added as a constraint, and the optimal estimation inversion algorithm is optimized to suppress the influence of measurement noise on results. Through the recovering simulated noisy spectra from an interferometer, the temperature profile with vertical resolution better than 2 km and an average accuracy better than 2 K is obtained by the optimized inversion method in this paper. In addition, the influence of a priori constraints on the inversion accuracy is studied, and a priori accuracy limits the inversion accuracy. When a priori accuracy is controlled within ±5 K, the average temperature inversion accuracy can be optimized to 1.35 K, which is better than the accuracy of OSIRIS on Odin at 90–105 km.

Polyphenols from edible seaweeds display various health benefits which have not been adequately studied. This study aimed to characterize the composition of extractable polyphenol-rich components (EPCs) and non-extractable polyphenol-rich components (NEPCs) from three edible seaweeds (i.e., Laminaria japonica, Ulva lactuca, and Porphyra tenera) and evaluate their anti-inflammatory capacities in activated macrophages and anticancer properties in colon cancer cells. Both EPCs and NEPCs from three edible seaweeds against lipopolysaccharides (LPS) stimulated nitric oxide in activated macrophages. Immunoblotting and qRT-PCR indicated that EPCs and NEPCs regulated the expression levels of proinflammatory enzymes, proinflammatory cytokines, and antioxidant enzymes in macrophages. Furthermore, EPCs and NEPCs lowered the viability of colon cancer cells, while normal colon cells were not affected. Additionally, EPCs and NEPCs induced cellular apoptosis and led to G0/G1 cell cycle arrest in HCT116 cells. Overall, these results provide a rationale for future animal and human studies designed to examine the anti-inflammatory and chemopreventive capacities of polyphenols-rich components from L. japonica, U. lactuca, and P. tenera.

Gracilaria rubra is rich in bioactive compounds with various potential health benefits. This study aimed to elucidate the profile of both extractable bioactive components (EBCs) and non-extractable bioactive components (NEBCs) of G. rubra and determine their anti-colon cancer and anti-inflammatory activities. Both EBCs and NEBCs displayed strong suppressive effects on the viability of HCT116 cells, which causes cell cycle arrest, induces cellular apoptosis, and regulates the expression of cyclin-dependent kinases (CDKs) and tumor suppressor proteins. Additionally, EBCs and NEBCs from G. rubra displayed anti-inflammatory functions via inhibiting the production of nitric oxide (NO), reactive oxygen species (ROS), and proinflammatory cytokines in activated macrophages and regulating the expression levels of cyclooxygenase-2 (COX-2), inducible nitric oxide synthase (iNOS), NADPH-quinone oxidoreductase-1 (NQO-1), and heme oxygenase 1 (HO-1). These findings provide a rationale for animal and human studies designed to evaluate the chemopreventive and anti-inflammatory potential of these bioactive compounds from G. rubra.

Abstract Potassium-ion hybrid capacitors (KIHCs) have attracted increasing research interest because of the virtues of potassium-ion batteries and supercapacitors. The development of KIHCs is subject to the investigation of applicable K+ storage materials which are able to accommodate the relatively large size and high activity of potassium. Here, we report a cocoon silk chemistry strategy to synthesize a hierarchically porous nitrogen-doped carbon (SHPNC). The as-prepared SHPNC with high surface area and rich N-doping not only offers highly efficient channels for the fast transport of electrons and K ions during cycling, but also provides sufficient void space to relieve volume expansion of electrode and improves its stability. Therefore, KIHCs with SHPNC anode and activated carbon cathode afford high energy of 135 Wh kg−1 (calculated based on the total mass of anode and cathode), long lifespan, and ultrafast charge/slow discharge performance. This study defines that the KIHCs show great application prospect in the field of high-performance energy storage devices.

Prenatal diagnosis is an important means of early diagnosis of genetic diseases, which can effectively reduce the risk of birth defects. Free fetal cells, as a carrier of intact fetal genetic material, provide hope for the development of high-sensitivity and high-accuracy prenatal diagnosis technology. However, the number of fetal cells is small and it is difficult to apply clinically. In recent years, noninvasive prenatal diagnosis (NIPD) technology for fetal genetic material in maternal peripheral blood has developed rapidly, which makes it possible to diagnose genetic diseases by fetal cells in maternal peripheral blood. This article reviewed the current status of fetal cell separation and enrichment technology and its application in noninvasive prenatal diagnosis technology.

High salinity restricts plant growth and geographic distribution. Plant intracellular Na+/H+ (NHX) antiporters have critical roles in plant development and stress response. However, the molecular functions of RmNHXs in Rosa multiflora remain unclear. In this study, we identified 11 putative RmNHXs in R. multiflora according to the genome-wide analysis. The RmNHXs were classified into three classes. Most of the RmNHXs were responsive to salt stress, with the greatest upregulation being observed in RmNHX2. RmNHX2 was localized at the tonoplast. RmNHX2 overexpression resulted in the enhanced salt tolerance in tobacco, whereas virus-induced gene silencing (VIGS) of RmNHX2 in R. multiflora elevated salt susceptibility. Under salt treatment, the transgenic tobaccos achieved less reactive oxygen species (ROS) accumulation and higher activities of antioxidant enzymes, which complied with the upregulated expressions of antioxidant genes. Moreover, RmNHX2-overexpression lines had a lower level of Na+, a higher level of K+, and a lower Na/K ratio. In contrast to the mentioned, VIGS of RmNHX2 in R. multiflora exhibited the opposite phenotype, accompanied by a compromised salt tolerance. Regarded together, these results demonstrate that RmNHX2 enhances plant salt tolerance by maintaining proper ion homeostasis, as well as by accelerating ROS scavenging.

The Greenhouse gases Monitoring Instrument on GaoFen-5 satellite-II (GMI-II) uses spatial heterodyne spectroscopy (SHS) for quantitative monitoring of atmospheric greenhouse gases (GHG). Unlike the traditional SHS, the interferometer component of the GMI-II was designed with zero optical path difference offset, effectively improving spectral resolution while maintaining the same detector specifications. The secondary imaging system with non-isometric scaling of spatial and spectral dimensions was designed to decrease the integration time of a frame image or improve the spectral signal-to-noise ratio (SNR) under the same integration time. This paper introduces the design, manufacture, adjustment methods, and test results of the main performance indexes of the GMI-II that indicate that the spectral resolution of the O2 A-band detection channel is better than 0.6 cm−1 and other channels are better than 0.27 cm−1. Under the typical radiance of other carbon monitors’ on-orbit statistics, the spectral SNR of the GMI-II is more than 300. These test results demonstrate that the GMI-II can be well adapted to quantitative remote sensing monitoring of atmospheric GHG.

Exports are a crucial driving force of China’s economic growth; however, researchers have yet to verify whether they can effectively improve the high-quality economic development. Based on interprovincial panel data from 2000 to 2019, in this study, we constructed a high-quality economic development indicator system through the entropy weight method, and we adopted the linear regression model and dynamic panel threshold model to empirically test the export trade effect on the high-quality economic development as well as its mechanism. We also probed the impact of the heterogeneous absorptive capacity on the high-quality economic development. According to our research findings, China’s export trade has substantially promoted the high-quality economic development level by, from the viewpoint of the action path, positively influencing the economic, open, and coordination subsystems. The influence of the export trade on the high-quality economic development has a substantial single-threshold effect on the heterogeneous absorptive capacity; that is, when the threshold variables that represent the regional absorptive capacity (the economic level, R&D intensity, and technological gap) are all higher than the threshold value, the export trade has a substantial positive impact on the high-quality economic development level. The research conclusions of this paper provide new ideas for the development of high-quality economic systems as well as a useful reference for China in its formulation of more targeted foreign trade policies.

The Greenhouse Gas Monitoring Instrument (GMI), carried by Gaofen 5 (GF5-01), and the Hyperspectral Observation Satellite (GF5-02) were successfully launched on 9 May 2018, and September 7, 2021, respectively, and are the only passive greenhouse gas payloads in China that can regularly obtain effective detection data in-orbit at this stage. Before launch, the research team carried out much laboratory calibration work and designed an on-board calibration system based on solar radiation sources which guarantees the quantitative accuracy of the payload data to the greatest extent. In order to more effectively meet the high frequency calibration requirements over the whole life cycle of the payload, the research team carried out research using the on-track site calibration method based on digital calibration field network technology, and the obtained calibration coefficient effectively complements the laboratory and on-board calibration results. The working principle of the GMI is quite different from that of a traditional imaging payload. Spatial heterodyne spectroscopy (SHS) is used to detect the absorption spectrum of greenhouse gases, has a large field of view and is non-imaging and hyperspectral. The existing fixed-site alternative calibration methods cannot fully meet the requirements of calibration tasks. In this paper, we propose a set of global digital calibration radiation field screening criteria that can meet the characteristics of the GMI and design a method to calculate the site calibration coefficients of non-absorption spectral channels according to the characteristics of hyperspectral data. Based on the historical observation data of the GMI, the initial calibration calculation of the payload launch was carried out, and the calibration results of four spectral channels of the GMI were obtained: The calibration coefficient range of the O2 channel is 1.05–1.15, the mean value is 1.10 and the standard deviation is 2.72%; the calibration coefficient of the CO2-1 channel is 1.05–1.13, the mean value is 1.09 and the standard deviation is 2.64%; the calibration coefficient of the CH4 channel is 1.08–1.10, the mean value is 1.11 and the standard deviation is 2.73%; the calibration coefficient of the CO2-2 channel is 1.09–1.14, the mean value is 1.12 and the standard deviation is 2.93%. The above results show that the radiation performance of each channel of the GMI shows no significant attenuation during this period, that the site calibration coefficient has no significant fluctuation and that the in-orbit operation state is stable.

The gram-negative facultative anaerobic bacteria Salmonella enterica serovar Typhimurium (hereafter S. Typhimurium) has always been considered as one candidate of anti-tumor agents or vectors for delivering drug molecules. In this study, we compared several widely studied S. Typhimurium strains in their anti-tumor properties aiming to screen out the best one for further optimization and use in cancer therapy. In terms of the motility, virulence and anti-tumor efficacy, the three strains 14028, SL1344, and UK-1 were similar and obviously better than LT-2, and UK-1 showed the best phenotypes among them. Therefore, the strain UK-1 (D) was selected for the following studies. Its auxotrophic mutant strain (D1) harboring ∆aroA and ∆purM mutations was further optimized through the modification of lipid A structure, generating a new strain named D2 with stronger immunostimulatory activity. Finally, the ∆asd derivative of D2 was utilized as one live vector to deliver anti-tumor molecules including the angiogenesis inhibitor endostatin and apoptosis inducer TRAIL and the therapeutic and toxic-side effects were evaluated in mouse models of colon carcinoma and melanoma. After intraperitoneal infection, engineered Salmonella bacteria equipped with endostatin and/or TRAIL significantly suppressed the tumor growth and prolonged survival of tumor-bearing mice compared to PBS or bacteria carrying the empty plasmid. Consistently, immunohistochemical studies confirmed the colonization of Salmonella bacteria and the expression of anti-tumor molecules inside tumor tissue, which were accompanied by the increase of cell apoptosis and suppression of tumor angiogenesis. These results demonstrated that the beneficial anti-tumor efficacy of attenuated S. Typhimurium bacteria could be improved through delivery of drug molecules with powerful anti-tumor activities.

In order to grasp the development laws of carbon efficiency and help China to achieve the dual-carbon goal as soon as possible, we used the super-efficiency EBM model to calculate the total factor carbon efficiency of cities, based on panel data for 283 prefecture-level cities in China from 2004 to 2019. The spatiotemporal variations in carbon efficiency were analyzed using the Dagum Gini coefficient, LISA aggregation and standard deviational ellipse. The dynamic evolution trends were analyzed using kernel density estimation and the spatial Markov chain. The results showed that the overall difference in total factor carbon efficiency between the 283 cities decreased, and the difference within the three regions was greater than that between regions. The total factor carbon efficiency of the cities had a significant spatial correlation, and the spatial distribution patterns showed a centripetal aggregation from northeast to southwest. The dynamic evolution characteristics of the carbon emission intensity in different regions were quite different and the polarization of eastern and central cities was more obvious. There was a significant path dependence effect on the transition probability of total factor carbon efficiency between cities, and the carbon efficiency level of neighboring cities could affect the transition probability of the carbon efficiency of the cities. Based on the above conclusions, we also put forward relevant policy recommendations for technological changes on the energy supply side, innovative development patterns and the governance of regional policies.

This study investigated the management and clinical outcomes along with associated factors of posterior reversible encephalopathy syndrome (PRES) in childhood hematologic/oncologic diseases. We present data from children with hematologic/oncologic diseases who developed PRES after treatment of the primary disease with chemotherapy and hematopoietic stem cell transplantation (HSCT) at 3 medical centers in Changsha, China from 2015 to 2020, and review all previously reported cases with the aim of determining whether this neurologic manifestation affects the disease prognosis. In the clinical cohort of 58 PRES patients, hypertension [pooled odds ratio (OR) = 4.941, 95% confidence interval (CI): 1.390, 17.570; P = 0.001] and blood transfusion (OR = 14.259, 95% CI: 3.273, 62.131; P = 0.001) were significantly associated with PRES. Elevated platelet (OR = 0.988, 95% CI: 0.982, 0.995; P < 0.001), hemoglobin (OR = 0.924, 95% CI: 0.890, 0.995; P < 0.001), and blood sodium (OR = 0.905, 95% CI: 0.860, 0.953; P < 0.001), potassium (OR = 0.599, 95% CI: 0.360, 0.995; P = 0.048), and magnesium (OR = 0.093, 95% CI: 0.016, 0.539; P = 0.008) were protective factors against PRES. Data for 440 pediatric PRES patients with hematologic/oncologic diseases in 21 articles retrieved from PubMed, Web of Science, and Embase databases and the 20 PRES patients from our study were analyzed. The median age at presentation was 7.9 years. The most common primary diagnosis was leukemia (62.3%), followed by solid tumor (7.7%) and lymphoma (7.5%). Most patients (65.0%) received chemotherapy, including non-induction (55.2%) and induction (44.8%) regimens; and 86.5% used corticosteroids before the onset of PRES. Although 21.0% of patients died during follow-up, in most cases (93.2%) this was not attributable to PRES but to severe infection (27.3%), underlying disease (26.1%), graft-vs.-host disease (14.8%), multiple organ dysfunction syndrome (8.0%), and respiratory failure (3.4%). PRES was more common with HSCT compared to chemotherapy and had a nearly 2 times higher mortality rate in patients with oncologic/hematologic diseases than in those with other types of disease. Monitoring neurologic signs and symptoms in the former group is therefore critical for ensuring good clinical outcomes following treatment of the primary malignancy.

Enterococcus faecalis is a Gram-positive opportunistic pathogen that could cause pneumonia and bacteremia in stroke patients. The development of antibiotic resistance in hospital-associated E. faecalis is a formidable public health threat. Bacteriophage therapy is a renewed solution to treat antibiotic-resistant bacterial infections. However, bacteria can acquire phage resistance quite quickly, which is a significant barrier to phage therapy. Here, we characterized a lytic E. faecalis bacteriophage Vb_EfaM_LG1 with lytic activity. Its genome did not contain antibiotic resistance or virulence genes. Vb_EfaM_LG1 effectively inhibits E. faecalis growth for a short period, and phage resistance developed within hours. However, the combination of antibiotics and phage has a tremendous synergistic effect against E. faecalis, prevents the development of phage resistance, and disrupts the biofilm efficiently. Our results show that the phage-antibiotic combination has better killing efficiency against E. faecalis.

Objective Contrast extravasation (CE) after endovascular therapy (EVT) is commonly present in acute ischaemic stroke (AIS) patients. Substantial uncertainties remain about the relationship between CE and the outcomes of EVT in patients with AIS. Therefore, we aimed to evaluate this association.Design A systematic review and meta-analysis of published studies were performed.Data source We systematically searched the Medline and Embase databases for relevant clinical studies. The last literature search in databases was performed in June 2020.Eligibility criteria for study selection We included studies exploring the associations between CE and the outcomes of EVT in patients with AIS undergoing EVT.Data extraction and synthesis Two reviewers extracted relevant information and data from each article independently. We pooled ORs with CIs using a random-effects meta-analysis to calculate the associations between CE and outcomes of EVT. The magnitude of heterogeneity between estimates was quantified with the I2 statistic with 95% CIs.Results Fifteen observational studies that enrolled 1897 patients were included. Patients with CE had higher risks of poor functional outcome at discharge (2.38, 95% CI 1.45 to 3.89 p=0.001; n=545) and poor functional outcome at 90 days (OR 2.16, 95% CI 1.20 to 3.90; n=1194). We found no association between CE and in-hospital mortality (OR 0.95, 95% CI 0.27 to 3.30; n=376) or 90-day mortality (OR 1.38, 95% CI 0.81 to 2.36; n=697) after EVT. Moreover, CE was associated with higher risks of post-EVT intracranial haemorrhage (ICH) (OR 6.68, 95% CI 3.51 to 12.70; n=1721) and symptomatic ICH (OR 3.26, 95% CI 1.97 to 5.40; n=1092).Conclusions This systematic review and meta-analysis indicates that in patients with AIS undergoing EVT, CE is associated with higher risks of unfavourable functional outcomes and ICH. Thus, we should pay more attention to CE in patients with AIS undergoing EVT.

Typhoon Rammasun landed on the southern coastal region of Guangdong and Hainan Provinces on 18 July 2014, and is the strongest recorded typhoon since the 1970s in China. It caused enormous losses in human lives, property, and crop yields in two provinces; however, its impact on forests and subsequent recovery has not yet been assessed. Here we detected forest damage area and severity from Typhoon Rammasun using Landsat 8 OLI imagery, the Random Forest (RF) machine-learning algorithm, and univariate image differencing (UID) methods, and the controlling factors on damage severity and canopy greenness recovery were further analyzed. The accuracy evaluations against sample plot data indicated that the RF approach can more accurately detect the affected forest area and damage severity than the UID-based methods, with higher overall accuracy (94%), Kappa coefficient (0.92), and regression coefficient (R2 = 0.81; p < 0.01). The affected forest area in Guangdong and Hainan was 13,556 km2 and 3914 km2, accounting for 13.8% and 18.5% total forest area, respectively. The highest affected forest fractions reached 70% in some cities or counties. The proportions of severe damage category accounted for 20.85% and 21.31% of all affected forests in Guangdong and Hainan, respectively. Our study suggests that increasing tree density and choosing less sensitive tree species would reduce damage from typhoons in vulnerable areas such as fringe, scattered, and high-slope forests. The canopy greenness of damaged forests recovered rapidly within three months for both provinces; however, management strategies should still be applied in the severely damaged areas to sustain forest functions since the persistent forest canopy structure and biomass may require a longer time to recover.

Cucumber (Cucumis sativus L.), belonging to the gourd family (Cucurbitaceae), is one of the major vegetable crops in China. Conventional genetic breeding methods are ineffective for improving the tolerance of cucumber to various environmental stresses, diseases, and pests in the short term, but bio-engineering technologies can be applied to cucumber breeding to produce new cultivars with high yield and quality. Regeneration and genetic transformation systems are key technologies in modern cucumber breeding. Compared with regeneration systems, genetic transformation systems are not yet fully effective, and the low efficiency of genetic transformation is a bottleneck in cucumber cultivation. Here, we systematically review the key factors influencing the regeneration and genetic transformation of cucumber plants, including the selection of genotype, source of explants and forms of exogenous hormones added to the medium, the methods of transgene introduction and co-cultivation, and selection methods. In addition, we also focus on recent advances in the study of molecular mechanisms underlying important agronomic traits using genetic transformation technology, such as fruit length, fruit warts, and floral development. This review provides reference information for future research on improvements in cucumber varieties.

Background: Cerebral small vessel disease (SVD) is prevalent in the population, especially among elderly individuals. Substantial uncertainties remain about the clinical relevance of SVD with outcomes of mechanical thrombectomy (MT) in acute ischemic stroke (AIS).Objectives: This systematic review and meta-analysis was performed to evaluate the association between SVD and clinical outcomes in patients with AIS undergoing MT.Methods: We systematically searched the Medline, Embase, and Cochrane databases for relevant clinical studies. The exposure of SVD mainly included leukoaraiosis, cerebral microbleeds (CMBs), and lacunes. The pooled OR was used to calculate the association between each subtype of SVD and outcomes of MT. The primary outcome was poor functional outcome, which was defined as a modified Rankin Scale score (mRS) ≥3 at 90 days after MT. The secondary outcomes included mortality at 90 days, in-hospital mortality, intracranial hemorrhage (ICH) and symptomatic intracranial hemorrhage (sICH), successful recanalization and futile recanalization (FR), early neurological improvement, and early neurological deterioration (END) after MT.Results: Overall, 20 studies with 5,189 patients with AIS undergoing MT were included. High leukoaraiosis burden (HLB) at baseline was associated with increased risks of poor functional outcome at 90 days (OR 2.70, 95% CI 2.01–3.63; p < 0.001; 10 studies; n = 2,004), in-hospital mortality (OR 4.06, 95% CI 1.48–11.13; p = 0.006; 2 studies; n = 314), FR (OR 5.00, 95% CI 2.86–8.73; p < 0.001; 3 studies; n = 493), and END (OR 2.65, 95% CI 1.09–6.45; 1 study; n = 273) after MT. HLB (VSS 3–4 or FS ≥ 2) at baseline was not associated with mortality at 90 days, ICH, or sICH after MT. CMBs at baseline were found to be associated with increased risks of poor functional outcome at 90 days (OR 1.84, 95% CI 1.17–2.90; p = 0.008; 2 studies; n = 1,924) after MT. We found no association between the presence of lacunes and poor functional outcome at 90 days after MT.Conclusions: In patients with AIS undergoing MT, HLB and CMBs were associated with increased risks of unfavorable outcomes after MT.

Y chromosome represents masculinization. The extra Y chromosome of XYY patients usually leads to over-masculinization phenotypes. The occurrence of several DSD cases with XYY in blood is controversial. Is XYY associated with disorder of sex development (DSD)? What is the mechanism behind DSD in males with XYY in blood? To this end, this study retrospectively analyzed blood-karyotype data of 4,437 DSD male children and karyotypes data of 6,259 newborn males as the control. Exome sequencing (ES) was performed to test whether the patients with DSD and with XYY in blood had other variants on known DSD-genes. Testicular biopsy was performed. Fluorescence in situ hybridization (FISH) was used to test whether a sex chromosome mosaicism was present in the oral epithelial cells or gonad tissue of patients with DSD and with XYY in blood. Among 4,437 DSD males who received cytogenetic evaluation, 14 patients with 47,XYY were identified. By contrast, five individuals among the 6,259 controls had 47,XYY. XYY in blood is more frequent among males with DSD than in other males (p = 0.004). The XYY karyotypes were confirmed again by GTG-banding in blood samples and by FISH performed on oral epithelial cells. ES on seven XYY DSD patients was successfully performed, but results did not identify any pathogenic variant on 55 known DSD genes. Gonad biopsy (n = 3) revealed testicular dysplasia and true hermaphroditism. FISH of gonad tissues (n = 3) showed that all of the samples had mosaic for X/XY/XYY. This study is the first to investigate the relationship between XYY in blood and DSD. The knowledge that XYY is in the blood and in oral cells have X/XY/XYY mosaicism in gonadal tissue is new for both researchers and clinicians who seek to understand the genetic basis of DSD males.

This study explored the changes in the photosynthetic characteristics of the Fengdan peony under high-temperature stress to provide a reference for understanding the tolerance of peony plants under heat stress. In this study, the effects of high-temperature stress (40 °C) on the photosynthetic characteristics of the Fengdan leaves were studied. At 25 °C, the net photosynthetic rate (Pn), stomatal conductance (Gs), and transpiration rate (Tr) of the leaves decreased gradually with the increase in heat stress time, and intercellular CO2 concentration (Ci) decreased first and then increased. High-temperature stress reduced the light energy absorption (ABS/RC) and capture (TRO/RC), light energy for electron transport (ETO/RC), and heat dissipation (DIO/RC) per unit leaf area. The maximum photochemical efficiency (FV/FM), leaf photochemical performance index (PIabs), the probability that captured excitons can transfer electrons to other electron acceptors in the electron transport chain beyond QA (ψO), and the quantum yield for electron transport (φEo), decreased gradually. The results showed that high temperatures damaged the photosynthetic capacity of the peony leaves and destroyed the photosynthetic apparatus of leaves. This study provides a reference for understanding the photosynthetic characteristics and tolerance of peony plants under heat stress.

A cost-effective spectrum sharing architecture is proposed to enable the legacy noncognitive secondary system to coexist with the primary system. Specifically, we suggest to install a few intermediate nodes, namely, the cognitive relays, to conduct the spectrum sensing and coordinate the spectrum access. To achieve the goal of win-win between primary and secondary systems, the cognitive relay may act as a cooperator for both of them, and an Opportunistic Cognitive Relaying (OCR) scheme is specially devised. In this scheme, the cognitive relay opportunistically switches among three different working modes, that is, Relay for Primary Link (RPL), Relay for Secondary Link (RSL), or Relay for Neither of the Links (RNL), respectively, based on the channel-dependent observation of both systems. In addition, the transmit power for cognitive relay and secondary transmitter in each mode are optimally determined by maximizing the transmission rate of secondary system while keeping or even reducing the outage probability of primary system. Simulation results validate the efficiency of the proposed spectrum sharing scheme.

The utilization of TiO2 nanolayers that possess excellent biocompatibility and physical properties in DNA sensing and sequencing remains largely to be explored. To examine their applicability in gene sequencing, a comprehensive study on the interaction of DNA oligonucleotides with TiO2 nanolayers was performed through adsorption and desorption experiments. TiO2 nanolayers with 10 nm thickness were fabricated via magnetron sputtering onto a 6-inch silicon wafer. A simple chip block method, validated via quartz crystal microbalance experiments with dissipation monitoring (QCM-D), was proposed to study the adsorption behaviors and interaction mechanisms under a variety of critical influencing factors, including DNA concentration, length, and type, adsorption time, pH, and metal ions. It is determined that the adsorption takes 2 h to reach saturation in the MES solution and the adsorption capacity is significantly enhanced by lowering the pH due to the isoelectric point being pH = 6 for TiO2. The adsorption percentages of nucleobases are largely similar in the MES solution while following 5T = 5G > 5C > 5A in HEPES buffer for an adsorption duration of 2.5 h. Through pre-adsorption experiments, it is deduced that DNA oligonucleotides are horizontally adsorbed on the nanolayer. This further demonstrates that mono-, di-, and tri-valent metal ions promote the adsorption, whereas Zn2+ has strong adsorption by inducing DNA condensation. Based on the desorption experiments, it is revealed that electrostatic force dominates the adsorption over van der Waals force and hydrogen bonds. The phosphate group is the main functional group for adsorption, and the adsorption strength increases with the length of the oligonucleotide. This study provides comprehensive data on the adsorption of DNA oligonucleotides onto TiO2 nanolayers and clarifies the interaction mechanisms therein, which will be valuable for applications of TiO2 in DNA-related applications. [ABSTRACT FROM AUTHOR]

Objective. To assess the effectiveness of atrioventricular valve regurgitation (AVVR) detection using color Doppler in the four‐chamber view (4CV) for identifying atrioventricular septal defects (AVSDs) during 11–13 + 6 weeks' gestation. This study compares AVVR detection to conventional 2D ultrasound and investigates associations between AVSD and increased nuchal translucency thickness (NT), as well as additional cardiac, extracardiac, and chromosomal abnormalities in the first trimester. Materials and Methods. This prospective study analyzed data from singleton pregnancies diagnosed with AVSD at 11–13 weeks gestation. It included routine ultrasound examinations focusing on fetal anatomy, NT measurement, and blood flow analysis across AVVR using both color and directional power Doppler. Evaluations targeted the 4CV and the three‐vessel and trachea views (3VT). Ratios such as LAVV/RAVV and main pulmonary artery‐to‐aorta (PA/AO) diameter were also calculated. Results. Over three years, 452 fetuses were diagnosed with congenital heart disease in the first trimester, including 25 cases of AVSD (21 complete, 1 partial, and 3 intermediate). Seventeen cases were isolated AVSDs, 13 associated with heterotaxia syndrome, one with tetralogy of Fallot, and two survived. Among these, 92% showed AVVR, 61.54% had NT above the 95th percentile, and 32.0% lacked a nasal bone. AVVR was a more reliable indicator of AVSD than other ultrasonic markers. Conclusion. AVSD exhibits a diverse range of clinical presentations. A comprehensive review of both intracardiac and extracardiac anomalies is essential. AVVR detected during NT scanning in the first trimester can confirm the presence of AVSD. [ABSTRACT FROM AUTHOR]