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Research progress in pathogenic genes of hereditary non-syndromic mid-frequency deafness
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《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
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
《医学前沿(英文)》 2024年 第18卷 第1期 页码 81-97 doi: 10.1007/s11684-023-1006-x
关键词: neurodevelopmental disorder autosomal recessive intellectual disability consanguinity spastic paraplegia hearing loss TMEM141
基于离子印迹的二价铜离子非标记检测平台预防听力损失 Article
王欢, 张慧, 张小莉, 陈红, 陆玲, 柴人杰
《工程(英文)》 2024年 第33卷 第2期 页码 276-282 doi: 10.1016/j.eng.2023.09.001
铜是一种微量元素,在体内具有重要的生理功能。然而,过量的铜离子(Cu2+)可能会导致严重的健康问题,例如毛细胞凋亡,进而造成听力损失。因此,对Cu2+的测定具有重要意义。在本文中,我们将离子印迹技术与结构色水凝胶微球相结合,制备了基于壳聚糖的离子印迹水凝胶微球(IIHBs),并将其作为低成本、高特异性的Cu2+检测平台。这些IIHBs具有内部贯穿的大孔微纳结构,宏观尺寸均匀、颜色明亮,同时还具备磁响应性。将其孵育于Cu2+溶液中时,IIHB可以识别Cu2+并表现出反射峰变化,从而实现无标记检测。此外,受益于离子印迹技术,IIHBs 显示出良好的特异性和选择性,在Cu2+浓度为100 μmol∙L–1时印迹因子为19.14 。这些特征表明,所开发的 IIHBs有望用于Cu2+检测,进而预防听力损失。
Alternative splicing of inner-ear-expressed genes
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《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
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.
Loss of liver kinase B1 causes planar polarity defects in cochlear hair cells in mice
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《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
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 (LKB1Pax2 CKO mice) were generated using Pax2-Cre mice to investigate the function of LKB1 in inner ear hair cells during early embryonic period. LKB1Pax2 CKO mice died perinatally. Immunofluorescence and scanning electron microscopy revealed that stereociliary bundles in LKB1Pax2 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 LKB1Pax2 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
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
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
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
关键词: reverse auction loss aversion winner determination improved ant colony algorithm
A novel energy loss model and optimization design of the coin chute flection curve
Qinghua LIANG, Jinqiu MO, Weizhong GUO
《机械工程前沿(英文)》 2012年 第7卷 第1期 页码 38-46 doi: 10.1007/s11465-012-0311-x
In this paper, we propose a novel design model based on the energy loss of the coin (ELM model) to optimize the flection curve, which is widely used in coin operated machines. Two different kinds of energy loss models are analyzed according to dynamic characteristics of the coin falling movement. The flection curve is constructed based on cubic quasi-uniform B-spline with the data points and end points derivatives as inputs, and the curve model is governed and affected by energy loss equations, allowing to minimize the total energy loss before the coin arrives at the detecting position, thus to reduce the energy loss and collisions between the coin and the flection, thus to improve the testing accuracy. A case study with a typical Chinese currency coin shows the effectiveness of the model using GA optimization toolbox.
关键词: flection curve B-spline energy loss model (ELM model) optimization design
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
K Sathish KUMAR,S NAVEEN
《能源前沿(英文)》 2014年 第8卷 第4期 页码 434-442 doi: 10.1007/s11708-014-0313-y
关键词: distribution system reconfiguration (DFR) power loss reduction catfish particle swarm optimization (catfish PSO) radial structure
Yifu ZHANG,Hongwen LI,Jin HE,Qingjie WANG,Ying CHEN,Wanzhi CHEN,Shaochun MA
《农业科学与工程前沿(英文)》 2016年 第3卷 第2期 页码 161-170 doi: 10.15302/J-FASE-2016104
关键词: infiltration initial soil water content rainfall simulation soil loss straw mulching
Erhui GUO,Liding CHEN,Ranhao SUN,Zhaoming WANG
《环境科学与工程前沿(英文)》 2015年 第9卷 第2期 页码 279-287 doi: 10.1007/s11783-014-0667-8
关键词: riparian vegetation patterns soil nutrient distribution nutrient loss management
《医学前沿(英文)》 2021年 第15卷 第3期 页码 460-471 doi: 10.1007/s11684-021-0861-6
关键词: low-carbohydrate diet obesity nonalcoholic fatty liver disease continuous glucose monitoring mean sensor glucose
A novel approach to minimizing material loss for computer numerical control flank-regrinding of worn
《机械工程前沿(英文)》 2023年 第18卷 第3期 doi: 10.1007/s11465-023-0757-z
关键词: flank-regrinding worn end mill wheel position and orientation material loss over-cut
标题 作者 时间 类型 操作
Panoramic variation analysis of a family with neurodevelopmental disorders caused by biallelic loss-of-function
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
Winner determination problem with loss-averse buyers in reverse auctions
Xiaohu QIAN, Min HUANG, Yangyang YU, Xingwei WANG
期刊论文
A novel energy loss model and optimization design of the coin chute flection curve
Qinghua LIANG, Jinqiu MO, Weizhong GUO
期刊论文
Turnover and loss of nitrogenous compounds during composting of food wastes
YANG Yanmei, ZHANG Xiangfeng, YANG Zhifeng, XI Beidou, LIU Hongliang
期刊论文
Power system reconfiguration and loss minimization for a distribution systems using “Catfish PSO” algorithm
K Sathish KUMAR,S NAVEEN
期刊论文
Effect of mulching with maize straw on water infiltration and soil loss at different initial soil moistures
Yifu ZHANG,Hongwen LI,Jin HE,Qingjie WANG,Ying CHEN,Wanzhi CHEN,Shaochun MA
期刊论文
Effects of riparian vegetation patterns on the distribution and potential loss of soil nutrients: a case
Erhui GUO,Liding CHEN,Ranhao SUN,Zhaoming WANG
期刊论文
Low-carbohydrate diets lead to greater weight loss and better glucose homeostasis than exercise: a randomized
期刊论文