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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.
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The development of inertial confinement fusion (ICF) experiments necessitates the diagnostic instrument to have multiple frames with a high spatial and temporal resolution for the two-dimensional detection of the hot spot at the implosion end of the ICF. The existing sampling two-dimensional imaging technology in the world has superior performance; however, its subsequent development requires a streak tube with large lateral magnification. In this work, an electron beam separation device was designed and developed for the first time. The device can be used without changing the structure of the streak tube. It can be combined directly with the corresponding device and matched with a special control circuit. Based on the original transverse magnification, 1.77 times the secondary amplification can be achieved, which is conducive to expanding the recording range of the technology. The experimental results showed that the static spatial resolution of the streak tube after the inclusion of the device can still reach 10 lp/mm.
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In order to realize in situ multi-frame framing, this paper designed and developed a large-waist framing converter tube. The size ratio between the waist and the object was about 1.16:1. The subsequent test results showed that the static spatial resolution of the tube could reach 10 lp/mm (@ 72.5%) under the premise of this adjustment, and the transverse magnification could reach 2.9. Once the MCP (Micro Channel Plate) traveling wave gating unit is equipped at the output end, it is expected to promote the further development of in situ multi-frame framing technology.
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For an electron-optical imaging system with wide beam focusing, the calculation of the field curvature can be performed only theoretically and requires the specific analytical expressions of the axial potential distribution in the streak tube and its corresponding derivatives, making the calculation cumbersome. Even when the electron trajectory is tracked using the numerical calculation method, the calculated results cannot be verified experimentally. A method for measuring the field curvature of the streak tube based on the spherical fluorescent screen is proposed for the first time, to the best of our knowledge. This method can directly measure the field curvature from the experimental image without requiring information on the internal structure of the streak tube, which is extremely useful for the design of the subsequent image reconstruction algorithm.
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Through the immobilized biosorption of activated carbon and Paenibacillus polymyxa GA1 by sodium alginate, this paper take advantage of the orthogonal experiment to investigate the adsorption characteristics of sodium alginate. According to the research, the optimal preparation conditions were as following: the mass fraction of sodium alginate was 2.5%; the amount of carbon and bacteria was 1:20 and 1:2, respectively; under the preparation condition, the adsorption rate could reach to 93.74%. The adsorption conditions of the immobilized beads were: pH 5, temperature 30 degrees C and Pb2+ with an initial concentration of 300 mg x L(-1). Moreover, the immobilized activated carbon and GA1 improved their application range of pH, temperature and the initial concentration of Pb2+. Based on the equilibrium curve, it showed that the adsorption of Pb2+ was a rapid process within 30 min and gradually reached leveling within 2 h. What's more, the equilibrium curve could be well described by Langmuir model and Freundlich model, which be consisted mainly of monolayer adsorption, and the maximum monolayer adsorption amount was 370.37 mg x g(-1). Finally, the desorption result showed that the immobilized beads could be recycled effectively.