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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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Loss coefficient of nitrogenous non-point source pollution under various precipitation conditions

CHENG Hongguang, HAO Fanghua, REN Xiyan, YANG Shengtian, XIONG Wen, LEI Shaoping

《环境科学与工程前沿（英文）》 2008年第2卷第2期页码 230-235 doi: 10.1007/s11783-008-0043-7

摘要： In this study, calibrations of non-point source (NPS) pollution models are performed based on Black River basin historical real-time runoff data, sedimentation record data, and NPS sources survey information. The concept of NPS loss

关键词： information concept non-point historical real-time sedimentation

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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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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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美国发布新规定以降低助听器购买门槛

Mitch Leslie

《工程（英文）》 2022年第14卷第7期页码 7-9 doi: 10.1016/j.eng.2022.05.008

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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

摘要：

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

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Power system reconfiguration and loss minimization for a distribution systems using “Catfish PSO” algorithm

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

摘要： One of the very important ways to save electrical energy in the distribution system is network reconfiguration for loss reduction. Distribution networks are built as interconnected mesh networks; however, they are arranged to be radial in operation. The distribution feeder reconfiguration is to find a radial operating structure that optimizes network performance while satisfying operating constraints. The change in network configuration is performed by opening sectionalizing (normally closed) and closing tie (normally opened) switches of the network. These switches are changed in such a way that the radial structure of networks is maintained, all of the loads are energized, power loss is reduced, power quality is enhanced, and system security is increased. Distribution feeder reconfiguration is a complex nonlinear combinatorial problem since the status of the switches is non-differentiable. This paper proposes a new evolutionary algorithm (EA) for solving the distribution feeder reconfiguration (DFR) problem for a 33-bus and a 16-bus sample network, which effectively ensures the loss minimization.

关键词： distribution system reconfiguration (DFR) power loss reduction catfish particle swarm optimization (catfish PSO) radial structure

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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

《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

摘要： Mulching and soil water content (SWC) have a significant impact on soil erosion, and this study investigated the effect of straw mulching on water infiltration and soil loss under different initial SWC treatments in a rainfall simulation experiment conducted in northern China. Increasing initial SWC can decrease soil infiltration and increase soil loss. During an 80 mm rainfall event (80 mm·h for 60 min), 8%, 12% and 16% initial SWC treatments decreased cumulative infiltration by 8.7%, 42.5% and 58.1%, and increased total sediment yield by 44, 146 and 315 g, respectively, compared to 4% initial SWC. However, in all the straw mulching treatments, there was no significant difference in stable infiltration rate between the different initial SWC treatments. For all initial SWC treatments, straw mulching of 30% or more significantly enhanced water infiltration by over 31% and reduced soil loss by over 49%, compared to the unmulched treatment. Taking into consideration the performance of no-till planters, a maize straw mulching rate of 30% to 60% (1400–3100 kg·hm ) is recommended for the conservation of water and soil in northern China.

关键词： infiltration initial soil water content rainfall simulation soil loss straw mulching

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Effects of riparian vegetation patterns on the distribution and potential loss of soil nutrients: a case

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

摘要： A riparian ecosystem is an ecological transition zone between a river channel and terrestrial ecosystems. Riparian ecosystems play a vital role in maintaining stream health and bank stabilization. The types of riparian vegetation have changed greatly because of human activities along the Wenyu River. This study examines the impact of riparian vegetation patterns on water pollution due to soil nutrient loss. Four riparian vegetation patterns from the river channel to the upland were chosen as the focus of this study: grassland, cropland, grassland-cropland, and grassland-manmade lawn. The different distributions of soil nutrients along vegetation patterns and the potential risk of nutrient loss were observed and compared. The results showed that riparian cropland has the lowest value of total nitrogen (TN), total phosphorus (TP), available nitrogen (AN), available phosphorus (AP), and organic matter (OM), but it has the highest soil bulk density (BD). The distributions of soil TN, TP, AN, AP, and OM exhibited a declining trend from the upland toward the river channel for riparian cropland, whereas a different trend was observed for the riparian grassland. The vegetation patterns of grassland-cropland and grassland-manmade lawn show that the grassland in the lower slope has more nutrients and OM but lower soil BD than the cropland or manmade lawn in the upper slope. So, the lower-slope grassland may intercept and infiltrate surface runoff from the upland. The lower-slope grassland has higher levels of soil TN, TP, AN, and AP, and thus it may become a new source of nutrient loss. Our results suggest that the management of the riparian vegetation should be improved, particularly in densely populated areas, to control soil erosion and river pollution.

关键词： riparian vegetation patterns soil nutrient distribution nutrient loss management

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Low-carbohydrate diets lead to greater weight loss and better glucose homeostasis than exercise: a randomized

《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

摘要： Lifestyle interventions, including dietary adjustments and exercise, are important for obesity management. This study enrolled adults with overweight or obesity to explore whether either low-carbohydrate diet (LCD) or exercise is more effective in metabolism improvement. Forty-five eligible subjects were randomly divided into an LCD group (n=22) and an exercise group (EX, n=23). The subjects either adopted LCD (carbohydrate intake<50 g/day) or performed moderate-to-vigorous exercise (≥30 min/day) for 3 weeks. After the interventions, LCD led to a larger weight loss than EX (−3.56±0.37 kg vs. −1.24±0.39 kg, P<0.001), as well as a larger reduction in fat mass (−2.10±0.18 kg vs. −1.25±0.24 kg, P=0.007) and waist circumference (−5.25±0.52 cm vs. −3.45±0.38 cm, P=0.008). Both interventions reduced visceral and subcutaneous fat and improved liver steatosis and insulin resistance. Triglycerides decreased in both two groups, whereas low-density lipoprotein cholesterol increased in the LCD group but decreased in the EX group. Various glycemic parameters, including serum glycated albumin, mean sensor glucose, coefficient of variability (CV), and largest amplitude of glycemic excursions, substantially declined in the LCD group. Only CV slightly decreased after exercise. This pilot study suggested that the effects of LCD and exercise are similar in alleviating liver steatosis and insulin resistance. Compared with exercise, LCD might be more efficient for weight loss and glucose homeostasis in people with obesity.

关键词： low-carbohydrate diet obesity nonalcoholic fatty liver disease continuous glucose monitoring mean sensor glucose

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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

Loss coefficient of nitrogenous non-point source pollution under various precipitation conditions

CHENG Hongguang, HAO Fanghua, REN Xiyan, YANG Shengtian, XIONG Wen, LEI Shaoping

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

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

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

美国发布新规定以降低助听器购买门槛

Mitch Leslie

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

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

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