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AIM: To identify genetic defects in a Chinese family with congenital posterior polar cataracts and assess the pathogenicity. METHODS: A four-generation Chinese family affected with autosomal dominant congenital cataract was recruited. Nineteen individuals took part in this study including 5 affected and 14 unaffected individuals. Sanger sequencing targeted hot-spot regions of 27 congenital cataract-causing genes for variant discovery. The pathogenicity of the variant was evaluated by the guidelines of American College of Medical Genetics and InterVar software. Confocal microscopy was applied to detect the subcellular localization of fluorescence-labeled ephrin type-A receptor 2 (EPHA2). Co-immunoprecipitation assay was implemented to estimate the interaction between EphA2 and other lens membrane proteins. The mRNA and protein expression were analyzed by reverse transcription-polymerase chain reaction (qRT-PCR) and Western blotting assay, respectively. The cell migration was analyzed by wound healing assay. Zebrafish model was generated by ectopic expression of human EPHA2/p.R957P mutant to demonstrate whether the mutant could cause lens opacity in vivo. RESULTS: A novel missense and pathogenic variant c.2870G>C was identified in the sterile alpha motif (SAM) domain of EPHA2. Functional studies demonstrated the variant's impact: reduced EPHA2 protein expression, altered subcellular localization, and disrupted interactions with other lens membrane proteins. This mutant notably enhanced human lens epithelial cell migration, and induced a central cloudy region and roughness in zebrafish lenses with ectopic expression of human EPHA2/p.R957P mutant under differential interference contrast (DIC) optics. CONCLUSION: Novel pathogenic c.2870G>C variant of EPHA2 in a Chinese congenital cataract family contributes to disease pathogenesis.

Abstract Background Early identification of populations at high cardiovascular disease (CVD) risk and improvement of risk factors can significantly decrease the probability of CVD development and improve outcomes. Insulin resistance (IR) is a CVD risk factor. The triglyceride glucose (TyG) index is a simple and reliable index for evaluating IR. However, no clinical studies on the prognostic value of the TyG index in a high risk CVD population have been conducted. This study evaluated the relationship between the TyG index and prognosis in a high risk CVD population. Methods This study enrolled 35,455 participants aged 35–75 years who were at high CVD risk and visited selected health centers and community service centers between 2017 and 2021. Their general clinical characteristics and baseline blood biochemical indicators were recorded. The TyG index was calculated as ln[fasting triglyceride (mg/dl)× fasting blood glucose (mg/dl)/2]. The endpoints were all-cause death and cardiovascular death during follow-up. Cox proportional hazard models and restricted cubic spline (RCS) analysis were used to evaluate the correlation between the TyG index and endpoints. Results In the overall study population, the mean age of all participants was 57.9 ± 9.6 years, 40.7% were male, and the mean TyG index was 8.9 ± 0.6. All participants were divided into two groups based on the results of the RCS analysis, with a cut-off value of 9.83. There were 551 all-cause deaths and 180 cardiovascular deaths during a median follow-up time of 3.4 years. In the multivariate Cox proportional hazard model, participants with a TyG index ≥ 9.83 had a higher risk of all-cause death (Hazard ratio [HR] 1.86, 95% Confdence intervals [CI] 1.37–2.51, P

By investigating the absolute sensitivity and maximum dilution ratio of commercially available kits, three kinds of rapid detection kit products with the best effect were selected. Fried peanuts, roasted peanuts and peanut butter were taken as representative substrates to optimize the pre-treatment conditions of samples and the reaction conditions of kits. Unified technical evaluation was conducted according to the performance indexes in The Technical Specification for Evaluation of Rapid Food Detection Methods, and the detection limit, sensitivity, specificity, false negative rate, false positive rate, relative accuracy and consistency analysis of reference methods of all brands of rapid test kits were investigated. Our findings could provide scientific basis for the rapid determination and evaluation standard of aflatoxin B1 colloidal gold in peanut and its products.

AIM: To evaluate the feasibility of promoting genetic detection for granular corneal dystrophy type 2 (GCD2) by a questionnaire conducted among citizens in five cities in China. METHODS: The data were collected by questionnaire, and analyzed by Chi-square test and one-tailed t test in IBM SPSS statistics. RESULTS: Based on the survey data on the awareness of GCD2 genetic detection in this study and the positive predictive analysis report of the citizens in five cities in China, the vast majority (84.2%) of respondents had never heard of it and did not know that GCD2 patients have been prohibited from performing excimer surgery that can deteriorate GCD2 patients’ condition even leading to blindness. Though 3.4% of patients understood GCD2 very much, they have no idea that GCD2 could not be 100% accuracy diagnosed by the conventional inspection methods. CONCLUSION: It is feasible and necessary to use GCD2 genetic detection as an excimer preoperative examination project. In order to promote the development of detection project, a few improvements should be carried out in terms of the promoting efforts, costs, and research progress.

Majiagou landslide, a major ancient landslide in Three Gorges Reservoir region, is located in the high earthquake area of southwest China. The 2013 Badong earthquake caused an obvious deformation of landslide monitored by the sliding inclinometer. A strong earthquake may induce the reactivation of ancient landslide. So, it is necessary to research the seismic dynamic response of Majiagou landslide. For this purpose, discontinuous deformation analysis (DDA), improved by introducing the artificial joint and viscous boundary, is applied in this study. The displacements at monitoring points caused by Badong earthquake are calculated and compared with the field data, verifying the numerical method and model. Further, a strong earthquake with the peak acceleration of 1 g is assumed to act on the landside, the initiation and evolution process of landslide is simulated, and the movement features of landslide are discussed. The dynamic failure of landslide and the local amplification of seismic wave can be embodied, indicating that the improved DDA provides an alternative approach for analyzing the seismic dynamic response of jointed rock.

The facile synthesis of large size borophene is highly desirable, especially in reserving green energy by borophene-based Li-ion batteries (LIBs). In this study, an easy method of synthesizing a series of nickel foam (NF) deposited with borophene sheets without the use of catalysts is reported via an improved chemical vapor deposition (CVD) process. During the CVD process, the B2O2 vapor was moved to the heated nickel foam and converted into Ni3B and crystalline B under an H2 atmosphere. Numerous micron-sized lamellar borophene with thicknesses of less than 2 nm were deposited on the surface of the nickel foam, and the borophene sheets displayed ultrathin and transparency. Deep microstructural analysis revealed the crystalline nature of pure B in the as-obtained borophene sheets, and the β12-phase is dominant. The β12-borophene holds great potential for designing high-capacity anode material for LIBs. When the nickel foam-supported borophene sheets were directly used as a self-supporting binder-free anode material for LIBs, the NF framework not only hindered the aggregation of borophene sheets and alleviated the strain change during the lithiation/delithiation process but also provided a three-dimensional highway conductive network for fast electron transport. The fabricated electrodes exhibit superior lithium storage capacity and cyclic stability than blank NF electrodes. However, the results suggest that this is still far lower than the theoretical lithium storage capacity of the boron anode. The kinetics analysis combined with density functional theory calculations demonstrated that slow electron and ion transportation in the electrodes is attributed to the existence of the Ni3B phase and deactivated borophene. This study may provide vital guidance for designing high-performance borophene-based LIBs. [ABSTRACT FROM AUTHOR]

Xylooligosaccharides (XO), derived from the alkaline (NaOH) extractant of Mikania micrantha, were produced using multiple staged membrane separation and enzymatic xylanolysis. Staged nanofiltration (NMX), ultrafiltration (EUMX), and centrifugation (EMX) processes for the ethanol precipitates were conducted. NMX recovered 97.26% of total xylose and removed 73.18% of sodium ions. Concentrations of total xylose were raised from 10.98 to 51.85 mg/mL by the NMX process. Recovered xylan-containing solids were hydrolyzed by the recombinant Paenibacillus xylanase. 68% XO conversions from total xylose of NMX was achieved in 24 hours. Xylopentaose (DP 5) was the major product from NMX and EMX hydrolysis. Xylohexaose (DP 6) was the major product from EUMX hydrolysis. Results of the present study suggest the applicability for XO production by nanofiltration, as NMX gave higher XO yields compared to those from a conventional ethanol-related lignocellulosic waste conversion process.

By investigating the absolute sensitivity and maximum dilution ratio of commercially available kits, three kinds of rapid detection kit products with the best effect were selected. Fried peanuts, roasted peanuts and peanut butter were taken as representative substrates to optimize the pre-treatment conditions of samples and the reaction conditions of kits. Unified technical evaluation was conducted according to the performance indexes in The Technical Specification for Evaluation of Rapid Food Detection Methods, and the detection limit, sensitivity, specificity, false negative rate, false positive rate, relative accuracy and consistency analysis of reference methods of all brands of rapid test kits were investigated. Our findings could provide scientific basis for the rapid determination and evaluation standard of aflatoxin B1 colloidal gold in peanut and its products. [ABSTRACT FROM AUTHOR]