PRPF3

Purpose. To characterize the clinical and molecular genetic characteristics of a large, multigenerational Chinese family showing different phenotypes. Methods. A pedigree consisted of 56 individuals in 5 generations was recruited. Comprehensive ophthalmic examinations were performed in 16 family members affected. Mutation screening of CYP4V2 was performed by Sanger sequencing. Next-generation sequencing (NGS) was performed to capture and sequence all exons of 47 known retinal dystrophy-associated genes in two affected family members who had no mutations in CYP4V2. The detected variants in NGS were validated by Sanger sequencing in the family members. Results. Two compound heterozygous CYP4V2 mutations (c.802-8_810del17insGC and c.992A>C) were detected in the proband who presented typical clinical features of BCD. One missense mutation (c.1482C>T, p.T494M) in the PRPF3 gene was detected in 9 out of 22 affected family members who manifested classical clinical features of RP. Conclusions. Our results showed that two compound heterozygous CYP4V2 mutations caused BCD, and one missense mutation in PRPF3 was responsible for adRP in this large family. This study suggests that accurate phenotypic diagnosis, molecular diagnosis, and genetic counseling are necessary for patients with hereditary retinal degeneration in some large mutigenerational family

Evaluation of Alpha-Ketoglutarate Supplementation on the Improvement of Intestinal Antioxidant Capacity and Immune Response in Songpu Mirror Carp (Cyprinus carpio) After Infection With Aeromonas hydrophila

As an intermediate substance of the tricarboxylic acid cycle and a precursor substance of glutamic acid synthesis, the effect of alpha-ketoglutarate on growth and protein synthesis has been extensively studied. However, its prevention and treatment of pathogenic bacteria and its mechanism have not yet been noticed. To evaluate the effects of alpha-ketoglutarate on intestinal antioxidant capacity and immune response of Songpu mirror carp, a total of 360 fish with an average initial weight of 6.54 ± 0.08 g were fed diets containing alpha-ketoglutarate with 1% for 8 weeks. At the end of the feeding trial, the fish were challenged with Aeromonas hydrophila for 2 weeks. The results indicated that alpha-ketoglutarate supplementation significantly increased the survival rate of carp after infection with Aeromonas hydrophila (P < 0.05), and the contents of immune digestion enzymes including lysozyme, alkaline phosphatase and the concentration of complement C4 were markedly enhanced after alpha-ketoglutarate supplementation (P < 0.05). Also, appropriate alpha-ketoglutarate increased the activities of total antioxidant capacity and catalase and prevented the up-regulation in the mRNA expression levels of pro-inflammatory cytokines including tumor necrosis factor-α, interleukin-1β, interleukin-6, and interleukin-8 (P < 0.05). Furthermore, the mRNA expression levels of toll-like receptor 4 (TLR4), and nuclear factor kappa-B (NF-κB) were strikingly increased after infection with Aeromonas hydrophila (P < 0.05), while the TLR4 was strikingly decreased with alpha-ketoglutarate supplementation (P < 0.05). Moreover, the mRNA expression levels of tight junctions including claudin-1, claudin-3, claudin-7, claudin-11 and myosin light chain kinases (MLCK) were upregulated after alpha-ketoglutarate supplementation (P < 0.05). In summary, the appropriate alpha-ketoglutarate supplementation could increase survival rate, strengthen the intestinal enzyme immunosuppressive activities, antioxidant capacities and alleviate the intestinal inflammation, thereby promoting the intestinal immune responses and barrier functions of Songpu mirror carp via activating TLR4/MyD88/NF-κB and MLCK signaling pathways after infection with Aeromonas hydrophila

Does Digital Agricultural Technology Extension Service Enhance Sustainable Food Production? Evidence from Maize Farmers in China

This research aims to investigate the average and heterogeneous impacts of digital agricultural technology extension service use on eco-efficiency among 1302 maize-producing farmers from a major maize-producing area in Northeast China in 2022. The slack-based measure model with undesirable outputs is applied to calculate the eco-efficiency of maize production. To obtain an unbiased estimation of the average effect, the self-selection problem generated by observable and unobservable factors is solved by the endogenous switching regression model. Quantile regression is utilized to analyze the heterogeneous effect. Notably, the mediated effects model is utilized to examine the potential mechanism between them. Our findings indicate that digital agricultural technology extension service use can increase maize production’s eco-efficiency. Digital agricultural technology extension service users would have reduced the eco-efficiency of the service by 0.148 (21.11%) if they had not used it. Digital agricultural technology extension service nonusers would have improved the eco-efficiency of the service by 0.214 (35.20%) if they had used it. The robustness check reconfirms the results. Moreover, digital agricultural technology extension service use is more helpful for maize farmers who have lower eco-efficiency than those who have higher eco-efficiency. Digital agricultural technology extension service use can improve the eco-efficiency of maize production through the application of organic fertilizers, green pesticides, and biodegradable agricultural films. There are policy implications of these findings: there is an argument for using the publicity of the digital agricultural technology extension service to encourage farmers to use sustainable inputs; additionally, it might be worthwhile to implement a categorized promotion strategy based on the different real-world situations

Sodium Iodate Influences the Apoptosis, Proliferation and Differentiation Potential of Radial Glial Cells In Vitro

Background/Aims: Sodium iodate (NaIO3)-induced acute retinal injury is typically used as an animal model for degenerative retinal disease; however, how NaIO3 influences the apoptosis, proliferation and differentiation of endogenous retinal stem cells is unknown. Methods: We exposed a radial glial cells (RGCs) line (L2.3) to different NaIO3 concentrations and determined the influence of NaIO3 on apoptosis, proliferation, and differentiation using flow cytometry and immunofluorescence assays. We used a real-time polymerase chain reaction assay to analyze the levels of mRNAs encoding GSK-3β, AXIN2, β-catenin, TGF-β1, SMAD2, SMAD3, NOG (Noggin), and BMP4. Results: Cell density decreased dramatically as a function of the NaIO3 dose. NaIO3 increased apoptosis, inhibited mitosis, proliferation, and the Wnt/β-catenin pathway. CHIR99021 (Wnt agonist) treatment efficiently reversed the effects of NaIO3 on the apoptosis and proliferation of RGCs. The number of neuronal class III β-tubulin-positive cells decreased markedly, whereas that of glial fibrillary acidic protein-positive cells increased significantly when RGCs were exposed to NaIO3. During differentiation, the Nog mRNA level decreased and transforming growth factor-β1 (Tgf-β1) and Smad2/3 mRNA levels increased significantly when RGCs were exposed to NaIO3. Conclusion: NaIO3 increased apoptosis, influenced the proliferation of RGCs and drove them toward astrocytic differentiation, likely through inhibition of the Wnt/β-catenin and noggin pathways and activation of the TGF-β1/SMAD2/3 pathway

Highly Efficient Photocatalytic Hydrogen on CoS/TiO2 Photocatalysts from Aqueous Methanol Solution

The photocatalyzed water splitting reaction in aqueous methanol solution is an efficient preparation method for hydrogen and methanal under mild conditions. In this work, metal sulfide-loaded TiO2 photocatalysts for hydrogen and methanol production were synthesized by hydrothermal method (180°C/12 h) and characterized by X-ray diffraction (XRD), UV-visible diffuse reflectance spectroscopy (DRS), scanning electron microscopy (SEM), and energy-dispersive X-ray spectroscopy (EDX). The crystal structures of the samples are the typical anatase phase of TiO2 and exhibit a spherical morphology. When TiO2 was loaded with CoS, ZnS, and Bi2S3, respectively, the resulting catalysts showed photocatalytic activities for water decomposition to hydrogen in aqueous methanol solution under 300 W Xe lamp irradiation. Among the photocatalysts with various compositions, the 20 wt% CoS/TiO2 sample with a 2.1 eV band gap showed the maximum photocatalytic activity for the photocatalytic reaction, which indicated that CoS improved the separation ratio of photoexcited electrons and holes. The enhanced activity can be attributed to the intimate junctions that are formed between CoS and TiO2, which can reduce the electron-hole recombination. The production rate of hydrogen with 20 wt% CoS/TiO2 photocatalyst was about 5.6 mmol/g/h, which was 67 times higher than that of pure TiO2. The formation rate of HCHO was 1.9 mmol/g/h with 98.7% selectivity. Moreover, the CoS/TiO2 photocatalyst demonstrated good reusability and stability. In the present study, it is demonstrated that CoS can act as an effective cocatalyst to enhance the photocatalytic hydrogen and methanal production activity of TiO2. The highly improved performance of the CoS/TiO2 composite was mainly ascribed to the efficient charge separation

Effects of the Surface Charge of Graphene Oxide Derivatives on Ocular Compatibility

The incorporation of functional groups endows graphene oxide (GO) with different surface charges, which plays important roles in biological interactions with cells. However, the effect of surface charge of GO derivatives on ocular biocompatibility has not been fully elucidated. Previously, we found that positively, negatively and neutrally charged PEGylated GO (PEG-GO) nanosheets exerted similar effect on the viability of ocular cells. In this work, we performed in vitro and in vivo studies to comprehensively study the effect of surface charge of PEG-GO on ocular compatibility. The in vitro results showed that the cellular uptake efficacy of negatively charged PEG-GO nanosheets was significantly decreased compared with positively charged and neutrally charged analogs. However, three kinds of PEG-GO nanosheets produced similar amounts of intracellular reactive oxygen species and showed similar influence on mitochondrial membrane potential. By analysis of global gene expression profiles, we found that the correlation coefficients between three kinds of PEG-GO-treated cells were more than 0.98. Furthermore, in vivo results showed that all these PEG-GO nanosheets had no significant toxicity to ocular structure and function. Taken together, our work suggested that surface charge of PEG-GO exerted negligible effect on its ocular compatibility, except for the cellular uptake. Our work is conducive to understanding the relationship between surface charge and biocompatibility of GO derivatives

Association between Plasma HMGB-1 and Silicosis: A Case-Control Study

High-mobility group box-1 (HMGB-1) has been associated with fibrotic diseases. However, the role of HMGB-1 in silicosis is still uncertain. In this study, we conducted a case-control study involving 74 patients with silicosis and 107 age/gender-matched healthy controls in China. An Enzyme-linked immunosorbent assay (ELISA) was used to examine the concentrations of plasma HMGB-1 among all subjects. A logistic regression model and receiver operating characteristic curve (ROC) analysis were performed to assess the relationships between HMGB-1 and silicosis. We observed that plasma HMGB-1 concentrations were significantly increased in silicosis patients when compared with healthy controls (p < 0.05). Each 1 ng/mL increase in plasma HMGB-1 was positively associated with increased odds of silicosis, and the odds ratio (OR) (95% confidence interval) was 1.86 (1.52, 2.27). Additionally, compared with subjects with lower HMGB-1 concentrations, increased odds of silicosis were observed in those with higher HMGB-1 concentrations, and the OR was 15.33 (6.70, 35.10). Nonlinear models including a natural cubic spline function of continuous HMGB-1 yielded similar results. In ROC analyses, we found that plasma HMGB-1 >7.419 ng/mL had 81.6% sensitivity and 80.4% specificity for silicosis, and the area under the curve (AUC) was 0.84. Our results demonstrated that elevated plasma HMGB-1 was positivity associated with increased OR of silicosis

Analysis of the Influence of Structure and Parameters of Axial Piston Pump on Flow Pulsation

In view of the working principle of a swashplate axial piston pump, a simulation model of the piston pump was built in AMESim and its output flow pulsation characteristics were simulated and analyzed. We mainly analyzed the influence of the speed of the prime mover, the swashplate angle, the diameter of the piston, and port plate structure on the flow pulsation of the piston pump. The result of this research shows that the port plate structure, the swashplate angle, and the speed of the prime mover have an important influence on the flow pulsation of the piston pump. In order to effectively reduce the flow pulsation generated by the piston pump and reduce the noise generated in the process of flow distribution, the opening of the pre-compression angle and misalignment angle of the port plate of the piston pump must be reduced appropriately and the swashplate angle and the rotation speed of the prime mover should be controlled within a certain range. The flow pulsation of the axial piston pump decreases with the increase of the piston number and the decrease in the misalignment angle. The research results provide a reference for reducing the flow pulsation of the axial piston pump