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Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness

null

《医学前沿（英文）》 2016年第10卷第2期页码 137-142 doi: 10.1007/s11684-016-0449-8

摘要：

Hearing impairment is considered as the most prevalent impairment worldwide. Almost 600 million people in the world suffer from mild or moderate hearing impairment, an estimated 10% of the human population. Genetic factors play an important role in the pathogenesis of this disorder. Hereditary hearing loss is divided into syndromic hearing loss (associated with other anomalies) and non-syndromic hearing loss (not associated with other anomalies). Approximately 80% of genetic deafness is non-syndromic. On the basis of the frequency of hearing loss, hereditary non-syndromic hearing loss can be divided into high-, mid-, low-, and total-frequency hearing loss. An audiometric finding of mid-frequency sensorineural hearing loss, or a “bowl-shaped” audiogram, is uncommon. Up to now, merely 7 loci have been linked to mid-frequency hearing loss. Only four genetic mid-frequency deafness genes, namely, DFNA10 (EYA4), DFNA8/12 (TECTA), DFNA13 (COL11A2), DFNA44 (CCDC50), have been reported to date. This review summarizes the research progress of the four genes to draw attention to mid-frequency deafness genes.

关键词： hereditary non-syndromic hearing loss mid-frequency hearing loss deafness genes

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Ionically Imprinting-Based Copper (Ⅱ) Label-Free Detection for Preventing Hearing Loss Article

Huan Wang, Hui Zhang, Xiaoli Zhang, Hong Chen, Ling Lu, Renjie Chai

《工程（英文）》 doi: 10.1016/j.eng.2023.09.001

摘要：

Copper is a microelement with important physiological functions in the body. However, the excess copper ion (Cu²⁺) may cause severe health problems, such as hair cell apoptosis and the resultant hearing loss. Therefore, the assay of Cu²⁺ is important. We integrate ionic imprinting technology (IIT) and structurally colored hydrogel beads to prepare chitosan-based ionically imprinted hydrogel beads (IIHBs) as a low-cost and high-specificity platform for Cu²⁺ detection. The IIHBs have a macroporous microstructure, uniform size, vivid structural color, and magnetic responsiveness. When incubated in solution, IIHBs recognize Cu²⁺ and exhibit a reflective peak change, thereby achieving label-free detection. In addition, benefiting from the IIT, the IIHBs display good specificity and selectivity and have an imprinting factor of 19.14 at 100 lmol∙L^–1. These features indicated that the developed IIHBs are promising candidates for Cu²⁺ detection, particularly for the prevention of hearing loss.

关键词： Structural color Microfluidics Ionic imprinting Label-free detection Hearing loss

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Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function

《医学前沿（英文）》 doi: 10.1007/s11684-023-1006-x

摘要： Highly clinical and genetic heterogeneity of neurodevelopmental disorders presents a major challenge in clinical genetics and medicine. Panoramic variation analysis is imperative to analyze the disease phenotypes resulting from multilocus genomic variation. Here, a Pakistani family with parental consanguinity was presented, characterized with severe intellectual disability (ID), spastic paraplegia, and deafness. Homozygosity mapping, integrated single nucleotide polymorphism (SNP) array, whole-exome sequencing, and whole-genome sequencing were performed, and homozygous variants in TMEM141 (c.270G>A, p.Trp90*), DDHD2 (c.411+767_c.1249-327del), and LHFPL5 (c.250delC, p.Leu84*) were identified. A Tmem141^{p.Trp90*/p.Trp90*} mouse model was generated. Behavioral studies showed impairments in learning ability and motor coordination. Brain slice electrophysiology and Golgi staining demonstrated deficient synaptic plasticity in hippocampal neurons and abnormal dendritic branching in cerebellar Purkinje cells. Transmission electron microscopy showed abnormal mitochondrial morphology. Furthermore, studies on a human in vitro neuronal model (SH-SY5Y cells) with stable shRNA-mediated knockdown of TMEM141 showed deleterious effect on bioenergetic function, possibly explaining the pathogenesis of replicated phenotypes in the cross-species mouse model. Conclusively, panoramic variation analysis revealed that multilocus genomic variations of TMEM141, DDHD2, and LHFPL5 together caused variable phenotypes in patient. Notably, the biallelic loss-of-function variants of TMEM141 were responsible for syndromic ID.

关键词： neurodevelopmental disorder autosomal recessive intellectual disability consanguinity spastic paraplegia hearing loss TMEM141

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Alternative splicing of inner-ear-expressed genes

null

《医学前沿（英文）》 2016年第10卷第3期页码 250-257 doi: 10.1007/s11684-016-0454-y

摘要：

Alternative splicing plays a fundamental role in the development and physiological function of the inner ear. Inner-ear-specific gene splicing is necessary to establish the identity and maintain the function of the inner ear. For example, exon 68 of Cadherin 23 (Cdh23) gene is subject to inner-ear-specific alternative splicing, and as a result, Cdh23(+68) is only expressed in inner ear hair cells. Alternative splicing along the tonotopic axis of the cochlea contributes to frequency tuning, particularly in lower vertebrates, such as chickens and turtles. Differential splicing of Kcnma1, which encodes for the α subunit of the Ca²⁺-activated K⁺ channel (BK channel), has been suggested to affect the channel gating properties and is important for frequency tuning. Consequently, deficits in alternative splicing have been shown to cause hearing loss, as we can observe in Bronx Waltzer (bv) mice and Sfswap mutant mice. Despite the advances in this field, the regulation of alternative splicing in the inner ear remains elusive. Further investigation is also needed to clarify the mechanism of hearing loss caused by alternative splicing deficits.

关键词： alternative splicing inner ear hearing loss hair cells

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Loss of liver kinase B1 causes planar polarity defects in cochlear hair cells in mice

null

《医学前沿（英文）》 2016年第10卷第4期页码 481-489 doi: 10.1007/s11684-016-0494-3

摘要：

The tumor suppressor gene liver kinase B1 (LKB1), also called STK11, encodes a serine/threonine kinase. LKB1 plays crucial roles in cell differentiation, proliferation, and polarity. In this study, LKB1 conditional knockout mice (LKB1^Pax2 CKO mice) were generated using Pax2-Cre mice to investigate the function of LKB1 in inner ear hair cells during early embryonic period. LKB1^Pax2 CKO mice died perinatally. Immunofluorescence and scanning electron microscopy revealed that stereociliary bundles in LKB1^Pax2 CKO mice were clustered and misoriented, respectively. Moreover, ectopic distribution of kinocilium bundles resulting from abnormal migration of kinocilium was observed in the mutant mice. The orientation of stereociliary bundles and the migration of kinocilia are critical indicators of planar cell polarity (PCP) of hair cells. LKB1 deficiency in LKB1^Pax2 CKO mice thus disrupted hair cell planar polarity during embryonic development. Our results suggest that LKB1 is required in PCP formation in cochlear hair cells in mice.

关键词： LKB1 stereociliary bundles kinocilium planar cell polarity hearing mice

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复杂机械结构中高频动响应能量有限元方法研究

祝丹晖,解妙霞,孔祥杰,张文博,陈花玲

《中国工程科学》 2013年第15卷第1期页码 106-112

摘要：

从理论研究和应用研究两个方面追踪了国内外关于能量有限元的发展现状，并指出能量有限元已趋向于预示越来越复杂的结构动响应；接下来介绍本课题组近年来利用能量有限元方法针对实际复杂结构及复杂载荷环境中的高频动响应问题所做的研究工作，主要包括3个部分：一是在考虑多种传递波功率流耦合的情况下，发展了圆柱壳、截锥壳等复杂结构的高频响应能量有限元方法，从而得到了此类结构的中高频局部动响应特性；二是考虑在脉动载荷、混响室等复杂环境中，利用能量有限元方法并结合能量边界元方法预示了结构的高频振动特性和声振耦合特性；三是开发了能量有限元的计算软件，为其大规模应用奠定了基础。最后指出了能量有限元方法目前存在的问题和进一步研究的方向。

关键词：中高频响应能量有限元方法声振响应预示机械结构动力学

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Alternate partial root-zone irrigation with high irrigation frequency improves root growth and reducesunproductive water loss by apple trees in arid north-west China

Shaoqing DU, Ling TONG, Shaozhong KANG, Fusheng LI, Taisheng DU, Sien LI, Risheng DING

《农业科学与工程前沿（英文）》 2018年第5卷第2期页码 188-196 doi: 10.15302/J-FASE-2017176

摘要： Alternate partial root-zone irrigation (APRI) can improve water use efficiency in arid areas. However, the effectiveness and outcomes of different frequencies of APRI on water uptake capacity and physiological water use have not been reported. A two-year field experiment was conducted with two irrigation amounts (400 and 500 mm) and three irrigation methods (conventional irrigation, APRI with high and low frequencies). Root length density, stomatal conductance, photosynthetic rate, transpiration rate, leaf water use efficiency, midday stem and leaf water potentials were measured. The results show that in comparison with conventional irrigation, APRI with high frequency significantly increased root length density and decreased water potentials and stomatal conductance. No differences in the above indicators between the two APRI frequencies were detected. A significantly positive relationship between stomatal conductance and root length density was found under APRI. Overall, alternate partial root-zone irrigation with high frequency has a great potential to promote root growth, expand water uptake capacity and reduce unproductive water loss in the arid apple production area.

关键词： alternate partial root-zone irrigation apple tree leaf water use efficiency root length density stomatal conductance water potential

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Experimental study on seismic behavior of mid-rise RC shear wall with concealed truss

Wanlin CAO, Jianwei ZHANG, Jingna ZHANG, Min WANG,

《结构与土木工程前沿（英文）》 2009年第3卷第4期页码 370-377 doi: 10.1007/s11709-009-0062-x

摘要： In this paper, mid-rise shear wall with concealed truss was proposed. This new composite shear wall includes two kinds of composition: one is the composition of two bearing systems, including truss and shear wall, and the other is the composition of two materials, including steel and concrete. Therefore, it is a double composite shear wall. The experimental study on the seismic behavior of six 1/3 scale mid-rise shear walls, including an ordinary mid-rise shear wall, a mid-rise shear wall with steel frame, and four mid-rise shear wall with concealed truss made of different materials, was studied. Based on the experimental study, the stiffness and its attenuation, bearing capacity, ductility, hysteretic property, energy dissipation, and failure phenomena of each shear wall were contrastively analyzed. The formulas of bearing capacity and stiffness were established. The results obtained from the formulas and those from experiment are in good agreement. Some suggestions for seismic design of shear wall are given in this paper. The experimental results show that the seismic behavior of the mid-rise shear wall with steel frame and that of every truss with different materials is obviously improved.

关键词： reinforced concrete profile steel concealed truss mid-rise shear wall seismic behavior

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Review of recent advances of polymer based dielectrics for high-energy storage in electronic power devices from the perspective of target applications

Wenjie Sun, Jiale Mao, Shuang Wang, Lei Zhang, Yonghong Cheng

《化学科学与工程前沿（英文）》 2021年第15卷第1期页码 18-34 doi: 10.1007/s11705-020-1939-4

摘要： Polymer-based dielectric capacitors are widely-used energy storage devices. However, although the functions of dielectrics in applications like high-voltage direct current transmission projects, distributed energy systems, high-power pulse systems and new energy electric vehicles are similar, their requirements can be quite different. Low electric loss is a critical prerequisite for capacitors for electric grids, while high-temperature stability is an essential pre-requirement for those in electric vehicles. This paper reviews recent advances in this area, and categorizes dielectrics in terms of their foremost properties related to their target applications. Requirements for polymer-based dielectrics in various power electronic equipment are emphasized, including high energy storage density, low dissipation, high working temperature and fast-response time. This paper considers innovations including chemical structure modification, composite fabrication and structure re-design, and the enhancements to material performances achieved. The advantages and limitations of these methods are also discussed.

关键词： dielectric capacitors polymer-based dielectrics energy density dielectric loss working temperature frequency response

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A survey of decorative materials on the energy consumption of mid-rise residential buildings in Mashad

Masoud Taheri SHAHRAEIN, Lihua ZHAO, Qinglin MENG

《结构与土木工程前沿（英文）》 2010年第4卷第4期页码 490-497 doi: 10.1007/s11709-010-0068-4

摘要： Polyvinylchloride (PVC) panel is one of the most favorite decorative materials that has been popularly applied as finishing of ceiling in residential buildings. It is about five years that the people incline to redecorate the ceiling of old buildings with PVC panel in big cities of Iran, such as Mashad. In this study, the influence of ceiling PVC panel on the cooling and heating loads of studied apartment were determined by software DeST-h. In addition, the summer natural ventilation of the mentioned apartment is investigated by determining the wind speed into the apartment through the computational fluid dynamics (CFD) software. The evaluation of environment indoor wind velocity showed that most of the apartment space is a comfortable zone. The results of studied building analyses demonstrated that using PVC panel on the ceiling can decline the energy consumption of the penthouse (fifth level) of the investigated building, which is about 3.7% and 7% for studied methods of without and with air layer, respectively. In addition, although the existence of air layer can decline the cooling and heating loads, the increase in air layer thickness did not show significant decrease on building energy consumption. However, the PVC panel is expensive and is not suitable to be used for ceiling thermal insulation, but adding a thin layer of air between ceiling and PVC panel can be a good step toward sustainable building, when the people are inclined to utilize it as a decorative ceiling.

关键词： residential apartments natural ventilation energy consumption decorative materials Mashad

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Synthesis of mid-dicarboxy polystyrene by ATRP and formation of ionic-bonded supramolecules

YU Tao, WANG Yun, LU Dairen, BAI Ruke, LU Weiqi

《化学科学与工程前沿（英文）》 2007年第1卷第2期页码 140-145 doi: 10.1007/s11705-007-0026-4

摘要： Dimethyl 4, 6-bis (bromomethyl) isophthalate was synthesized by bromomethylation, oxidation, esterification and bromination of 1, 3-dimethylbenzene. This was used to initiate the atom transfer radical polymerization of styrene successfully. Results showed that the process had some of the good characteristics of controlled/living free radical polymerization. The molecular weight of the obtained polymer increased linearly with monomer conversion, its molecular weight distribution was very narrow, and a linear relationship between ln([]/[]) and polymerization time was found. A well-defined novel structural polystyrene containing two ester groups in the mid-main chain was prepared with controlled molecular weight and narrow polydispersity. The structure of the polymer was confirmed by H-NMR spectra. After being hydrolyzed, dicarboxy polystyrene was obtained and used to form ionic-bonded supramolecules with 1-dodecanamine as a model of the star-shaped supramolecules. The supramolecules formed were characterized by Fourier transform infrared (FTIR) spectrum.

关键词： controlled molecular conversion bromination relationship isophthalate

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Power fluctuation and power loss of wind turbines due to wind shear and tower shadow

Binrong WEN, Sha WEI, Kexiang WEI, Wenxian YANG, Zhike PENG, Fulei CHU

《机械工程前沿（英文）》 2017年第12卷第3期页码 321-332 doi: 10.1007/s11465-017-0434-1

摘要：

The magnitude and stability of power output are two key indices of wind turbines. This study investigates the effects of wind shear and tower shadow on power output in terms of power fluctuation and power loss to estimate the capacity and quality of the power generated by a wind turbine. First, wind speed models, particularly the wind shear model and the tower shadow model, are described in detail. The widely accepted tower shadow model is modified in view of the cone-shaped towers of modern large-scale wind turbines. Power fluctuation and power loss due to wind shear and tower shadow are analyzed by performing theoretical calculations and case analysis within the framework of a modified version of blade element momentum theory. Results indicate that power fluctuation is mainly caused by tower shadow, whereas power loss is primarily induced by wind shear. Under steady wind conditions, power loss can be divided into wind farm loss and rotor loss. Wind farm loss is constant at 3α(3α−1)R²/(8H²). By contrast, rotor loss is strongly influenced by the wind turbine control strategies and wind speed. That is, when the wind speed is measured in a region where a variable-speed controller works, the rotor loss stabilizes around zero, but when the wind speed is measured in a region where the blade pitch controller works, the rotor loss increases as the wind speed intensifies. The results of this study can serve as a reference for accurate power estimation and strategy development to mitigate the fluctuations in aerodynamic loads and power output due to wind shear and tower shadow.

关键词： wind turbine wind shear tower shadow power fluctuation power loss

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Turnover and loss of nitrogenous compounds during composting of food wastes

YANG Yanmei, ZHANG Xiangfeng, YANG Zhifeng, XI Beidou, LIU Hongliang

《环境科学与工程前沿（英文）》 2008年第2卷第2期页码 251-256 doi: 10.1007/s11783-008-0042-8

摘要： Few people have so far explored into the research of the dynamics of various nitrogenous compounds (including water-soluble nitrogen) in composting of food wastes. This study aimed to investigate the solid-phase nitrogen, water-soluble nitrogen, nitrogen loss together with ammonia volatilization in the process of food wastes composting. A laboratory scale static aerobic reactor in the experiment was employed in the composting process of a synthetic food waste, in which sawdust was used as the litter amendment. In the experiment, oxygen was supplied by continuous forced ventilation for 15 days. The results have shown that the concentrations of total nitrogen and organic nitrogen decrease significantly in the composting process, whereas NH-N concentration increases together with little fluctuation in NO-N. After composting, the total content of the water-soluble nitrogen compounds in the compost greatly increased, the total nitrogen loss amounted to 50% of the initial nitrogen, mainly attributed to ammonia volatilization. 56.7% of the total ammonia volatilization occurred in the middle and late composting of the thermophilic stage. This suggested that the control at the middle and late composting of thermophilic stage is the key to nitrogen loss in the food waste compost.

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我国中长期发电供应能力研究

白建华, 辛颂旭

《中国工程科学》 2011年第13卷第6期页码 65-74

摘要：

结合我国能源资源储量、禀赋特点和能源发展相关政策，对我国中长期发电供应能力进行了全面的分析，包括燃煤发电、水电、核能发电、风力发电、太阳能发电、生物质能发电和天然气发电的供应能力。在此基础上，以社会总体成本最小为原则，对我国中长期电源结构调整进行了研究，同时研判了我国中长期电源发展布局。

关键词：发电供应能力中长期电源结构电源布局

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Winner determination problem with loss-averse buyers in reverse auctions

Xiaohu QIAN, Min HUANG, Yangyang YU, Xingwei WANG

《工程管理前沿（英文）》 2017年第4卷第2期页码 212-220 doi: 10.15302/J-FEM-2017019

摘要： Reverse auctions have been widely adopted for purchasing goods and services. This paper considers a novel winner determination problem in a multiple-object reverse auction in which the buyer involves loss-averse behavior due to uncertain attributes. A corresponding winner determination model based on cumulative prospect theory is proposed. Due to the NP-hard characteristic, a loaded route strategy is proposed to ensure the feasibility of the model. Then, an improved ant colony algorithm that consists of a dynamic transition strategy and a Max-Min pheromone strategy is designed. Numerical experiments are conducted to illustrate the effectiveness of the proposed model and algorithm. We find that under the loaded route strategy, the improved ant colony algorithm performs better than the basic ant colony algorithm. In addition, the proposed model can effectively characterize the buyer’s loss-averse behavior.

关键词： reverse auction loss aversion winner determination improved ant colony algorithm

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标题作者时间类型操作

Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness

null

期刊论文

Ionically Imprinting-Based Copper (Ⅱ) Label-Free Detection for Preventing Hearing Loss

Huan Wang, Hui Zhang, Xiaoli Zhang, Hong Chen, Ling Lu, Renjie Chai

期刊论文

Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function

期刊论文

Alternative splicing of inner-ear-expressed genes

null

期刊论文

Loss of liver kinase B1 causes planar polarity defects in cochlear hair cells in mice

null

期刊论文

复杂机械结构中高频动响应能量有限元方法研究

祝丹晖,解妙霞,孔祥杰,张文博,陈花玲

期刊论文

Alternate partial root-zone irrigation with high irrigation frequency improves root growth and reducesunproductive water loss by apple trees in arid north-west China

Shaoqing DU, Ling TONG, Shaozhong KANG, Fusheng LI, Taisheng DU, Sien LI, Risheng DING

期刊论文

Experimental study on seismic behavior of mid-rise RC shear wall with concealed truss

Wanlin CAO, Jianwei ZHANG, Jingna ZHANG, Min WANG,

期刊论文

Review of recent advances of polymer based dielectrics for high-energy storage in electronic power devices from the perspective of target applications

Wenjie Sun, Jiale Mao, Shuang Wang, Lei Zhang, Yonghong Cheng

期刊论文

A survey of decorative materials on the energy consumption of mid-rise residential buildings in Mashad

Masoud Taheri SHAHRAEIN, Lihua ZHAO, Qinglin MENG

期刊论文

Synthesis of mid-dicarboxy polystyrene by ATRP and formation of ionic-bonded supramolecules

YU Tao, WANG Yun, LU Dairen, BAI Ruke, LU Weiqi

期刊论文

Power fluctuation and power loss of wind turbines due to wind shear and tower shadow

Binrong WEN, Sha WEI, Kexiang WEI, Wenxian YANG, Zhike PENG, Fulei CHU

期刊论文

Turnover and loss of nitrogenous compounds during composting of food wastes