GJB2 mutation spectrum in 2063 Chinese patients with nonsyndromic hearing impairment

Background: Mutations in GJB2 are the most common molecular defects responsible for autosomal recessive nonsyndromic hearing impairment (NSHI). The mutation spectra of this gene vary among different ethnic groups. Methods: In order to understand the spectrum and frequency of GJB2 mutations in the Chinese population, the coding region of the GJB2 gene from 2063 unrelated patients with NSHI was PCR amplified and sequenced. Results: A total of 23 pathogenic mutations were identified. Among them, five (p.W3X, c.99delT, c.155_c.158delTCTG, c.512_c.513insAACG, and p.Y152X) are novel. Three hundred and seven patients carry two confirmed pathogenic mutations, including 178 homozygotes and 129 compound heterozygotes. One hundred twenty five patients carry only one mutant allele. Thus, GJB2 mutations account for 17.9% of the mutant alleles in 2063 NSHI patients. Overall, 92.6% (684/739) of the pathogenic mutations are frame-shift truncation or nonsense mutations. The four prevalent mutations; c.235delC, c.299_c.300delAT, c.176_c.191del16, and c.35delG, account for 88.0% of all mutantalleles identified. The frequency of GJB2 mutations (alleles) varies from 4% to 30.4% among different regions of China. It also varies among different sub-ethnic groups. Conclusion: In some regions of China, testing of the three most common mutations can identify at least one GJB2 mutant allele in all patients. In other regions such as Tibet, the three most common mutations account for only 16% the GJB2 mutant alleles. Thus, in this region, sequencing of GJB2 would be recommended. In addition, the etiology of more than 80% of the mutant alleles for NSHI in China remains to be identified. Analysis of other NSHI related genes will be necessary

Phytotoxicity and Accumulation of Copper-Based Nanoparticles in Brassica under Cadmium Stress

The widespread use of copper-based nanoparticles expands the possibility that they enter the soil combined with heavy metals, having a toxic effect and posing a threat to the safety of vegetables. In this study, single and combined treatments of 2 mg/L Cd, 20 mg/L Cu NPs and 20 mg/L CuO NPs were added into Hoagland nutrient solution by hydroponics experiments. The experimental results show that copper-based Nanoparticles (NPs) can increase the photosynthetic rate of plants and increase the biomass of Brassica. Cu NPs treatment increased the Superoxide Dismutase (SOD), Peroxidase (POD) and catalase (CAT) activities of Brassica, and both NPs inhibited ascorbate peroxidase (APX) activity. We observed that Cd + Cu NPs exhibited antagonistic effects on Cd accumulation, inhibiting it by 12.6% in leaf and 38.6% in root, while Cd + CuO NPs increased Cd uptake by 73.1% in leaves and 22.5% in roots of Brassica. The Cu content in the shoots was significantly negatively correlated with Cd uptake. The Cd content of each component in plant subcellular is soluble component > cytoplasm > cell wall. Cu NPs + Cd inhibited the uptake of Zn, Ca, Fe, Mg, K and Mn elements, while CuO NPs + Cd promoted the uptake of Mn and Na elements. The results show that copper-based nanoparticles can increase the oxidative damage of plants under cadmium stress and reduce the nutritional value of plants

2011): The role of EDTA on Cadmium phytoextraction in a Cadmiumhyperaccumulator Rorippa globosa

Enhanced phytoextraction technologies have been proposed as an effective approach to the decontamination of heavy metals in soils. In this study, the application of ethylene diamine tetraacetic acid (0.5 and 1.0 g/kg EDTA) at preflowering stage depressed Rorippa globosa growth and Cd uptake, the dry biomass, Cd concentration and total metal accumulation (TMC) of shoots at the concentration of 1.0 g/kg EDTA resulted in 39.6, 3.1 and 41.0% reduction, respectively, relative to the control. In contrast, when EDTA was added at flowering and mature stages, it facilitated plant production and Cd absorption. Especially for 1.0 g/kg EDTA applied at mature stage, the maximum of shoot dry biomass, Cd concentration, TMC and remediation ratio (RR) were obtained, which were 4.7 g/pot, 210.3 mg/kg, 982.4 µg/pot and 1.6, respectively. Therefore, the moderate concentration of EDTA (1.0 g/kg) applied at optimal growing stage (mature stage) of R. globosa was more effective in increasing phytoextraction of Cd from contaminated soils

Phytoremediation of heavy metal contaminated saline soils using halophytes: current progress and future perspectives

Soil salinity is a destructive environmental stressor that greatly reduces plant growth and productivity. In recent years, large tracts of farmland in arid and semiarid regions have been simultaneously affected by salinity and heavy metal pollution, arousing widespread environmental concern. Phytoremediation, defined as the use of plants to remove pollutants from the environment and/or to render them harmless, is a low cost, environmentally friendly, and effective method for the decontamination of soils polluted by heavy metals. Halophytes, which can survive and reproduce in high salt environments, are potentially ideal candidates for phytoremediation of heavy metal-contaminated saline soils. In this review, we discuss the current progress on the use of halophytes, their tolerance mechanisms to salt and heavy metal toxicity, and their potential for phytoremediation in heavy metal-contaminated saline soils. The relative mechanisms are discussed and the future perspectives are proposed.The accepted manuscript in pdf format is listed with the files at the bottom of this page. The presentation of the authors' names and (or) special characters in the title of the manuscript may differ slightly between what is listed on this page and what is listed in the pdf file of the accepted manuscript; that in the pdf file of the accepted manuscript is what was submitted by the author

Influence and mechanism of Zn2+ on fluorite/calcite in sodium hexametaphosphate flotation system

Fluorite and calcite have similar surface properties and natural floatability, so their flotation separation has always been a problem faced by the beneficiation industry. The key to flotation separation is the choice of depressants. Sodium hexametaphosphate (SHMP) has a good effect on fluorite calcite selective inhibition. In this paper, the effects of Zn2+ on the selective inhibition of SHMP in the flotation process of fluorite and calcite were studied through single mineral and artificial mixed mineral flotation experiments. Solution chemical calculation, X-ray photoelectron spectroscopy (XPS), Fourier Transform Infrared spectroscopy (FT-IR) and Time of Flight Secondary Ion Mass Spectrometry (ToF-SIMS) analyses investigated the mechanism of action of Zn2+, which had the most significant negative effect on the selective inhibition of SHMP. The results show that the main components of SHMP inhibiting minerals are HPO42- and H2PO4-, which can react with Ca active sites on the mineral surface to form hydrophilic Ca(H22PO4)2 and CaHPO4, while Zn2+ The presence of HPO42- in solution resulted in the formation of stable ZnHPO4 complexes, thereby weakening the inhibitory effect of SHMP on minerals

Microstructural Evolution and Mechanical Evaluation of a Laser-Induced Composite Coating on a Ni-Based Superalloy during Thermal Exposure

A Ni−17Mo−7Cr-based superalloy was laser surface-modified to improve its tribological properties. Si particles were employed as coating materials. Si melted on the surface of the alloy during the process, triggering the formation of Mo6Ni6C carbides and Ni−Si intermetallics. A defect-free coating obtained was mostly made up of primary Mo6Ni6C and γ-Ni31Si12, as well as a eutectic structure of β1-Ni3Si and α-Ni-based solid solution (α-Ni (s.s)). The volume fraction of hard reinforcements (Mo6Ni6C, γ-Ni31Si12, and β1-Ni3Si) reached up to 85% in the coating. High-temperature microstructural stability of the coating was investigated by aging the coating at 1073 K for 240−480 h, to reveal its microstructural evolution. In addition, the mechanical performance of the coating was investigated. The nanoscale elastic modulus and hardness of Mo6Ni6C, γ-Ni31Si12, and α-Ni (s.s) were characterized using the nanoindentation tests. The nanoscratch tests were performed to measure the local wear resistance of the coating. Lastly, the Vickers hardness distribution across the cross-section of the coating before and after thermal exposure was compared. The work performed provides basic information understanding the microstructural evolution and mechanical performance of laser-induced coatings on Ni-based superalloys