We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected broth...We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation （c.647G→A） in the POU3F4 gene caused a substitu- tion from glycine to glutamic acid at position 216 （p.G216E）, and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the c.647G→A mutation in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families.展开更多
The Yangtze River is the mother river of China.To promote the aquatic ecosystem protection of the great river,the Project of Yangtze Fisheries Resources and Environment Investigation(2017-2021)supported by the Ministr...The Yangtze River is the mother river of China.To promote the aquatic ecosystem protection of the great river,the Project of Yangtze Fisheries Resources and Environment Investigation(2017-2021)supported by the Ministry of Agriculture and Rural Affairs,P.R.China carried out by 24 institutes and universities that located in the Yangtze River basin surveys the status of(1)fish species composition and spatial distribution,(2)current fish abundance,(3)endangered fishes,(4)Yangtze finless porpoise,(5)aquatic eco-environments,(6)water-level fluctuation areas,(7)capture fisheries and recreational fisheries of the Yangtze River mainstream and 10 of its main tributaries,including Yalong River,Heng River,Min River(including Dadu River),Chishui River,Tuo River,Jialing River,Wu River,Han River,Dongting Lake and Poyang Lake.The results showed that there were 443 fish species(belonging to 163 genus,37 families,and 18 orders)before 2017,but only 323 fish species(including 15 new recorded exotic species)were recorded in the project of 2017-2021.Among them,Cyprinus carpio,Carassius auratus,Hypophthalmichthys molitrix,Pelteobagrus fulvidraco,Coilia brachygnathus,Silurus asotus,Saurogobio dabryi,Ctenopharyngodon idellus,Pelteobagrus nitidus,Hemiculter leucisculus,Siniperca chuatsi,Coreius heterodon,Culter alburnus,Parabramis pekinensis,and Aristichthys nobilis were the dominant species across the whole Yangtze River system.It is estimated that there were 886 million individuals weighing 124.8 million kg,merely equivalent to 27.3%of the resources in 1950s,30.9%of the resources in 1960s,or 58.7%of the resources in 1980s.In the new list of protected fishes that recorded in the Yangtze River system,only 15 of 29 were collected in this project of 2017-2021.Psephurus gladius has been affirmed to be Extinct by International Union for Conservation of Nature(IUCN).The wild individuals of Tenualosa reevesii and Luciobrama macrocephalus have disappeared for many years and maybe have been extinct already.Acipenser dabryanus has been affirmed to展开更多
An unexpected super mei-yu struck in 2020 in the Yangtze-Huaihe River basin,southern Korea,and southern Japan(hereafter referred to as the mei-yu regions),causing many casualties and huge economic losses.The super mei...An unexpected super mei-yu struck in 2020 in the Yangtze-Huaihe River basin,southern Korea,and southern Japan(hereafter referred to as the mei-yu regions),causing many casualties and huge economic losses.The super mei-yu was characterized by a remarkably early onset(around 1 June),late withdrawal(around 1 August),and intense rainfalI during the mei-yu season.The precipitation in the early onset and late withdrawal stages contributed more than half of the total mei-yu-period precipitation over the mei-yu regions in 2020.In this study,the authors explored the dominant remote forcing of the mei-yu early onset and late withdrawal to understand the mechanisms of this super mei-yu.The early onset can mainly be attributed to an early northward-shifted East Asian jet stream(EAJS).The late withdrawal mainly resulted from the stagnant EAJS and the western North Pacific subtropical high(WPSH) during 10 July to 1 August.Specifically,North Atlantic sea surface temperature anomalies(SSTAs) excited a Rossby wave,which was steered by atmospheric anomalies related to the western North Pacific SSTAs,causing the early northward-shifted EAJS and generating an early onset.The record-breaking warm SSTAs over the North Indian Ocean to South China Sea and the reduced sea-ice concentration(SIC) over the Laptev-East Siberian Sea played important roles in causing the stagnant WPSH and EAJS during July,which led to the late withdrawal.Meanwhile,the SIC anomalies may have caused the inhomogeneous rainfall distribution in the mei-yu regions.Furthermore,projection results suggest that the probability of a late mei-yu withdrawal similar to the 2020 case will increase in the future.Finally,potential predictors of an extreme mei-yu are discussed.展开更多
In situ synchrotron X-ray radiography was used to study the effect of direct current（DC） on the grain nucleation and growth of Sn-50 wt.%Pb alloy. The results showed that applying DC adequately during solidification...In situ synchrotron X-ray radiography was used to study the effect of direct current（DC） on the grain nucleation and growth of Sn-50 wt.%Pb alloy. The results showed that applying DC adequately during solidification could effectively enhance the grain nucleation and inhibit its growth. Imaging of comparative experiments with varying DC intensity indicated that the final grain size, determined by the competition between grain nucleation and growth, was sensitively dependent on the DC intensity. It was found that the average grain size was decreased from 1632 to 567 μm with DC density of 1.5 A/mm^2 compared to the case without DC. Beyond this value, raising the current density may cause a significant decrease in the nucleation rate, and thus lead to a coarsening of the grain structure.展开更多
Central Asia,a crucible of prehistoric and historical Trans-Eurasian interactions,has been pivotal in shaping cultural exchanges,population dynamics,and genetic admixture.Recent insights from ancient DNA studies have ...Central Asia,a crucible of prehistoric and historical Trans-Eurasian interactions,has been pivotal in shaping cultural exchanges,population dynamics,and genetic admixture.Recent insights from ancient DNA studies have shed light on the extensive population turnover within this region,encompassing a spectrum of groups from Paleolithic huntergatherers to Holocene herders and the nomadic pastoralist empires of historical times.The genomic analysis of ancient pathogens across the Eurasian steppe has further deepened our understanding of pathogen origins,clonal expansions,and the intricate processes of host-pathogen coevolution in relation to varying pathogen exposures and their spread.We consolidate the latest findings pertaining to the ancient human and pathogen genomes of Central Asia,elucidating their profound influence on the genomic tapestry of contemporary Central Asians.A notable gap in the current genomic databases for Central Asia is underscored,particularly within the scope of genomics-driven precision medicine.We stress the urgent need for the development of extensive,region-specific genomic resources that hold promise for revealing the genetic blueprints underlying human traits and diseases,refining polygenic scoring models for predictive medicine,and bolstering genomic research endeavors across Central Asia.展开更多
Previous studies on genetic diseases predominantly focused on protein-coding variations, overlooking the vast noncoding regions in the human genome. The development of high-throughput sequencing technologies and funct...Previous studies on genetic diseases predominantly focused on protein-coding variations, overlooking the vast noncoding regions in the human genome. The development of high-throughput sequencing technologies and functional genomics tools has enabled the systematic identification of functional noncoding variants. These variants can impact gene expression, regulation, and chromatin conformation, thereby contributing to disease pathogenesis. Understanding the mechanisms that underlie the impact of noncoding variants on genetic diseases is indispensable for the development of precisely targeted therapies and the implementation of personalized medicine strategies. The intricacies of noncoding regions introduce a multitude of challenges and research opportunities. In this review, we introduce a spectrum of noncoding variants involved in genetic diseases, along with research strategies and advanced technologies for their precise identification and in-depth understanding of the complexity of the noncoding genome. We will delve into the research challenges and propose potential solutions for unraveling the genetic basis of rare and complex diseases.展开更多
OBJECTIVE: To test the reliability and validity of dermatology life quality index(DLQI) in simplified Chinese language by assessing the quality of life(QoL) in HIV(human immunodeficiency virus)/AIDS(Acquired immunodef...OBJECTIVE: To test the reliability and validity of dermatology life quality index(DLQI) in simplified Chinese language by assessing the quality of life(QoL) in HIV(human immunodeficiency virus)/AIDS(Acquired immunodeficiency syndrome) patients with pruritic papular eruption(PPE). METHODS: A study of simplified-Chinese-versiond from10 questions with the principal component analysis and the contribution rate of the 3 common factors was 59.95%. CONCLUSION: The simplified-Chinese-version DIQL is an acceptable and valid scale for HIV/AIDS patients with PPE. It can be used to evaluate the QoL of HIV/AIDS patients with PPE in China.展开更多
基金supported by the funding from the National High Technology Research and Development Program of China (863 Program) to Huijun Yuan (No.2007AA02E466)Key Project of National Natural Science Foundation of China to Huijun Yuan (Nos.81030017, 30571018) and Xuezhong Liu (No. 30528025)
文摘We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation （c.647G→A） in the POU3F4 gene caused a substitu- tion from glycine to glutamic acid at position 216 （p.G216E）, and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the c.647G→A mutation in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families.
文摘The Yangtze River is the mother river of China.To promote the aquatic ecosystem protection of the great river,the Project of Yangtze Fisheries Resources and Environment Investigation(2017-2021)supported by the Ministry of Agriculture and Rural Affairs,P.R.China carried out by 24 institutes and universities that located in the Yangtze River basin surveys the status of(1)fish species composition and spatial distribution,(2)current fish abundance,(3)endangered fishes,(4)Yangtze finless porpoise,(5)aquatic eco-environments,(6)water-level fluctuation areas,(7)capture fisheries and recreational fisheries of the Yangtze River mainstream and 10 of its main tributaries,including Yalong River,Heng River,Min River(including Dadu River),Chishui River,Tuo River,Jialing River,Wu River,Han River,Dongting Lake and Poyang Lake.The results showed that there were 443 fish species(belonging to 163 genus,37 families,and 18 orders)before 2017,but only 323 fish species(including 15 new recorded exotic species)were recorded in the project of 2017-2021.Among them,Cyprinus carpio,Carassius auratus,Hypophthalmichthys molitrix,Pelteobagrus fulvidraco,Coilia brachygnathus,Silurus asotus,Saurogobio dabryi,Ctenopharyngodon idellus,Pelteobagrus nitidus,Hemiculter leucisculus,Siniperca chuatsi,Coreius heterodon,Culter alburnus,Parabramis pekinensis,and Aristichthys nobilis were the dominant species across the whole Yangtze River system.It is estimated that there were 886 million individuals weighing 124.8 million kg,merely equivalent to 27.3%of the resources in 1950s,30.9%of the resources in 1960s,or 58.7%of the resources in 1980s.In the new list of protected fishes that recorded in the Yangtze River system,only 15 of 29 were collected in this project of 2017-2021.Psephurus gladius has been affirmed to be Extinct by International Union for Conservation of Nature(IUCN).The wild individuals of Tenualosa reevesii and Luciobrama macrocephalus have disappeared for many years and maybe have been extinct already.Acipenser dabryanus has been affirmed to
基金supported by the National Natural Science Foundation of China [grant number 42088101]the Major Program of the National Natural Science Foundation of China [grant number 41991283]。
文摘An unexpected super mei-yu struck in 2020 in the Yangtze-Huaihe River basin,southern Korea,and southern Japan(hereafter referred to as the mei-yu regions),causing many casualties and huge economic losses.The super mei-yu was characterized by a remarkably early onset(around 1 June),late withdrawal(around 1 August),and intense rainfalI during the mei-yu season.The precipitation in the early onset and late withdrawal stages contributed more than half of the total mei-yu-period precipitation over the mei-yu regions in 2020.In this study,the authors explored the dominant remote forcing of the mei-yu early onset and late withdrawal to understand the mechanisms of this super mei-yu.The early onset can mainly be attributed to an early northward-shifted East Asian jet stream(EAJS).The late withdrawal mainly resulted from the stagnant EAJS and the western North Pacific subtropical high(WPSH) during 10 July to 1 August.Specifically,North Atlantic sea surface temperature anomalies(SSTAs) excited a Rossby wave,which was steered by atmospheric anomalies related to the western North Pacific SSTAs,causing the early northward-shifted EAJS and generating an early onset.The record-breaking warm SSTAs over the North Indian Ocean to South China Sea and the reduced sea-ice concentration(SIC) over the Laptev-East Siberian Sea played important roles in causing the stagnant WPSH and EAJS during July,which led to the late withdrawal.Meanwhile,the SIC anomalies may have caused the inhomogeneous rainfall distribution in the mei-yu regions.Furthermore,projection results suggest that the probability of a late mei-yu withdrawal similar to the 2020 case will increase in the future.Finally,potential predictors of an extreme mei-yu are discussed.
基金supported by the National Key Research and Development Program of China (No. 2016YFB0701203)the National Natural Science Foundation of China (Nos. 51525401, 51690163, 51601028, 51401044)Dalian Support Plan for Innovation of High-level Talents (Top and Leading Talents, 2015R013)
文摘In situ synchrotron X-ray radiography was used to study the effect of direct current（DC） on the grain nucleation and growth of Sn-50 wt.%Pb alloy. The results showed that applying DC adequately during solidification could effectively enhance the grain nucleation and inhibit its growth. Imaging of comparative experiments with varying DC intensity indicated that the final grain size, determined by the competition between grain nucleation and growth, was sensitively dependent on the DC intensity. It was found that the average grain size was decreased from 1632 to 567 μm with DC density of 1.5 A/mm^2 compared to the case without DC. Beyond this value, raising the current density may cause a significant decrease in the nucleation rate, and thus lead to a coarsening of the grain structure.
基金supported by the National Natural Science Foundation of China(82202078)supported by the Major Project of the National Social Science Foundation of China(23&ZD203)+7 种基金the Open Project of the Key Laboratory of ForensicGenetics of the Ministry of Public Security(2022FGKFKT05)the Center for Archaeological Science of Sichuan University(23SASA01)supported by the 1‧3‧5 Project for Disciplines of Excellence,West China Hospital,Sichuan University(ZYJC20002)the Sichuan Science and Technology Program(2024NSFSC1518)supported by the National Key Research and Development Program of China(No.2023YFC2605400)the National Natural Science Foundation of China(32288101,32030020)the Shanghai Science and Technology Commission Program(23JS1410100)the Office of Global Partnerships(Key Projects Development Fund).
文摘Central Asia,a crucible of prehistoric and historical Trans-Eurasian interactions,has been pivotal in shaping cultural exchanges,population dynamics,and genetic admixture.Recent insights from ancient DNA studies have shed light on the extensive population turnover within this region,encompassing a spectrum of groups from Paleolithic huntergatherers to Holocene herders and the nomadic pastoralist empires of historical times.The genomic analysis of ancient pathogens across the Eurasian steppe has further deepened our understanding of pathogen origins,clonal expansions,and the intricate processes of host-pathogen coevolution in relation to varying pathogen exposures and their spread.We consolidate the latest findings pertaining to the ancient human and pathogen genomes of Central Asia,elucidating their profound influence on the genomic tapestry of contemporary Central Asians.A notable gap in the current genomic databases for Central Asia is underscored,particularly within the scope of genomics-driven precision medicine.We stress the urgent need for the development of extensive,region-specific genomic resources that hold promise for revealing the genetic blueprints underlying human traits and diseases,refining polygenic scoring models for predictive medicine,and bolstering genomic research endeavors across Central Asia.
基金supported by the National Key Research and Development Program of China(82030030)the 1·3·5 Project for Disciplines of Excellence,West China Hospital+1 种基金Sichuan University(ZYJC20002)to H.YuanSichuan Science and Technology Program(2022YFS0211)to K.Wu.
文摘Previous studies on genetic diseases predominantly focused on protein-coding variations, overlooking the vast noncoding regions in the human genome. The development of high-throughput sequencing technologies and functional genomics tools has enabled the systematic identification of functional noncoding variants. These variants can impact gene expression, regulation, and chromatin conformation, thereby contributing to disease pathogenesis. Understanding the mechanisms that underlie the impact of noncoding variants on genetic diseases is indispensable for the development of precisely targeted therapies and the implementation of personalized medicine strategies. The intricacies of noncoding regions introduce a multitude of challenges and research opportunities. In this review, we introduce a spectrum of noncoding variants involved in genetic diseases, along with research strategies and advanced technologies for their precise identification and in-depth understanding of the complexity of the noncoding genome. We will delve into the research challenges and propose potential solutions for unraveling the genetic basis of rare and complex diseases.
基金Supported by the National Special S&T Program on Major Infectious Diseases(No.2008ZX 10005-003,No.2012ZX10004905-003-003)Innovation Scientists and Technicians Troop Construction Projects of Zhengzhou City(No.10CXTD140)
文摘OBJECTIVE: To test the reliability and validity of dermatology life quality index(DLQI) in simplified Chinese language by assessing the quality of life(QoL) in HIV(human immunodeficiency virus)/AIDS(Acquired immunodeficiency syndrome) patients with pruritic papular eruption(PPE). METHODS: A study of simplified-Chinese-versiond from10 questions with the principal component analysis and the contribution rate of the 3 common factors was 59.95%. CONCLUSION: The simplified-Chinese-version DIQL is an acceptable and valid scale for HIV/AIDS patients with PPE. It can be used to evaluate the QoL of HIV/AIDS patients with PPE in China.
