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| 1 | GJB2 mutation spectrum in deaf population in a typical southeastern area of China显示文摘Mutations in GJB2 gene are the most frequently found mutations in patients with nonsyndromic hearing impairment. However, the spectrum and prevalence of mutations in this gene vary among different ethnic groups. In China, 30,000 infants are born with congenital hearing impairment annually. In order to provide appropriate genetic testing and counseling to the families, we investigated the molecular etiology of nonsyndromic deafness in 103 unrelated school children attending Nantong School for the Deaf and Mute in Jiangsu Province, China. The coding exon of the GJB2 gene was PCR amplified and sequenced. Sixty two GJB2 mutant alleles were identified in 35.9% (37/103) of the patients. Twenty five patients carried two pathogenic mutations and 12 patients carried one mutant allele. The 235delC was the most common mutation accounting for 69.4% (43/62) of GJB2 mutant alleles. The GJB2 mutant alleles accounted for 30.1% (62/206) of all chromosomes responsible for nonsyndromic hearing impairment. Testing of the 3 most prevalent deleterious frame shift mutations in this cohort detected 100% of all GJB2 mutant alleles. These results demonstrate that an effective genetic testing of GJB2 gene for patients and families with nonsyndromic hearing impairment is possible. | DAI Pu1*, YOU Yi-wen2*, CUI Jing-hong2*, YU Fei1, HAN Bing 1, KANG Dong-yang1, YUAN Hui-jun1, HAN Dong-yi1, 1. Department of Otolaryngology, PLA General Hospital, Beijing, People’s Republic China, 100853 2. Department of Otolaryngology, Nantong University Affiliated Hospital, Nantong, Jiangsu Province, People’s Republic China, 226001 *Pu Dai, Yiwen You, Jinghong Cui contribute equally to this paper | 2006 | Journal of Otology2006，1，2： | 10 |
| 2 | Mitochondrial DNA A1555G mutation screening using a testing kit method and its significance in preventing aminoglycoside-related hearing loss显示文摘To report a new screening method for mitochondrial DNA 1555A→G mutation and the results of genotype analysis in 19 maternal inherited deafness pedigrees. Method Five hundred and forty-six non-syndromic neuro-sensory hearing loss patients were tested for 1555A→G mutation using a new compact testing kit, which allows clear distinction between wild type and 1555 A→G mutated mtDNAs. Results Nineteen subjects among the 546 patients (3.48%) were found to carry mtDNA A1555G mutation. The results were confirmed by sequencing in an ABI 3100 Avant sequencer. Conclusions Maternal inherited deafness families are a frequently seen in outpatient group. The detection of mtDNA 1555 A→G mutation with a low cost, ready to use detection kit is needed and suitable in China for large scale screening and preventive testing before usage of aminoglycoside antibiotics. | LIU Xin,1 DAI Pu,1* HUANG Deliang,1 YUAN Huijun,1 LI Weiming,1 YU Fei,1 ZHANG Xin,1 KANG Dongyang,1 CAO Juyang,1 YANG Weiyan,1 HAN Dongyi,1 JIN Zhengce2, GUAN Minxin3 1. Department of Otolaryngology, Chinese PLA General Hospital, Beijing, China2. Weihai Aomaier Gene Technological CO.,LTD.,Weihai,Shandong 264200, China.3. Division and Program in Human Genetics and Center for Hearing and Deafness Research, Cincinnati Children’s Hospital Medical Center, Cincinnati, Ohio, USA | 2006 | Journal of Otology2006，1，1： | 7 |
| 3 | Cerebrospinal fluid phosphorylated tau,visinin-like protein-1,and chitinase-3-like protein 1 in mild cognitive impairment and Alzheimer’s disease显示文摘Background:Visinin-like protein-1(VILIP-1)and chitinase-3-like protein 1(CHI3L1 or YKL-40)in cerebrospinal fluid(CSF)are newly discovered markers indicating neuronal damage and microglial activation,respectively.Phosphorylated tau(p-tau)reflects the neuropathology of Alzheimer’s disease(AD)and is useful as diagnostic markers for AD.However,it is unknown whether these biomarkers have similar or complementary information in AD.Methods:We stratified 121 participants from the Alzheimer’s Disease Neuroimaging Initiative(ADNI)database into cognitively normal(CN),stable mild cognitive impairment(sMCI),progressive MCI(pMCI),and dementia due to AD.Analysis of covariance(ANOVA)and chi-square analyses,Spearman correlation,and logistic regression models were performed to test the demographic,associations between biomarkers,and diagnostic accuracies,respectively.Linear mixed-effects models were used to evaluate the effects of CSF amyloid-β(Aβ)on above biomarkers within diagnostic groups,the combination of diagnostic group and Aβstatus as predictor,and CSF biomarkers as predictors of AD features,including cognition measured by Mini–Mental State Examination(MMSE)and brain structure and white matter hyperintensity(WMH)measured by magnetic resonance imaging(MRI).Results:P-tau,VILIP-1,and YKL-40 were all predictors of AD diagnosis,but combinations of biomarkers did not improve the diagnostic accuracy(AUC 0.924 for p-tau,VILIP-1,and YKL-40)compared to p-tau(AUC 0.922).P-tau and VILIP-1 were highly correlated(r=0.639,p<0.001)and strongly associated with Aβpathology across clinical stages of AD,while YKL-40 was correlated with Aβpathology in CN and AD groups.VILIP-1 was associated with acceleration of cognitive decline,hippocampal atrophy,and expansion of ventricles in longitudinal analyses.YKL-40 was associated with hippocampal atrophy at baseline and follow-up,while p-tau was only associated with worsening WMH at baseline.Conclusions:CSF levels of p-tau,VILIP-1,and YKL-40 may have utility for discriminating between cognitively normal subjects and patients with AD.Increased levels of both VILIP-1 and YKL-40 may be associated with disease degeneration.These CSF biomarkers should be considered for future assessment in the characterization of the natural history of AD. | Hua Zhang Kok Pin Ng Joseph Therriault Min Su Kang Tharick APascoal Pedro Rosa-Neto Serge Gauthier the Alzheimer’s Disease Neuroimaging Initiative | 2018 | Translational Neurodegeneration2018，7，1： | 5 |
| 4 | 基于工作地点的分组干预对高血压控制的影响:一项随机临床研究显示文摘基于工作地点的干预可能为一种管理高血压的有效方法。但是目前缺少针对中国工作人群高血压控制情况的研究。本研究旨在评估基于工作地点的多组分别干预策略对改善血压控制的影响。研究设计及受试者:研究者在2013年1月至2014年12月于中国20个城区的60个工作地点进行了一系列高血压管理的随机临床试验。工作地点随机分为干预组(n=40)和对照组(n=20)。每个工作地点的受试者都需要完成一项横断面调查。 | 袁源(摘译) 叶鹏(审校) Wang Z Wang X Shen Y Li S Chen Z Zheng C Kang Y Jiang L Hao G Chang C Gao R | 2020 | 中华高血压杂志2020，28，6： | 3 |
| 5 | T-DNA insertional mutagenesis for activation tagging in rice显示文摘 | JEONG D H AN S KANG H G | 2002 | Plant Physiol2002，130，4： | 3 |
| 6 | 血根碱对肉鸡生长性能、相对器官重量、盲肠菌群、血清胆固醇水平以及肉品质的影响显示文摘研究旨在探索日粮添加血根碱(SGV)对肉鸡生长性能、相对器官重量、盲肠菌群、血清胆固醇水平和腿肌丙二醛含量的影响。选用840日龄雄性肉鸡(罗斯品种)饲养于28个稻草垫上,随机分为4个处理:玉米-豆粕型基础对照日粮、基础日粮中添加卑霉素10 ppm作为生长促进剂(AGP)、基础日粮中添加SGV 20 ppm(SGV20)和50 ppm(SGV50)。与饲喂基础日粮的肉鸡相比,基础日粮中添加AGP组、SGV20组和SGV50组的肉鸡最终体重(BW)、日增重、饲料转化率(FCR)显著改善(P<0.05)。与对照组相比,SGV20喂养组的肉鸡相对空肠重量显著降低(P<0.05),所有添加SGV组肉鸡相对空肠或回肠长度显著升高(P<0.05)。SGV20组较对照组肉鸡肠道菌群有所改变,尤其是盲肠乳酸菌数增加,但AGP组无改变。SGV20组或SGV50组肉鸡的总胆固醇水平较对照组显著降低(P<0.05),控制饮食物显著降低(P<0.05)。添加SGV后,作为脂质过氧化反应指示剂的腿肌丙二醛含量显著降低(P<0.05)。研究表明,在肉鸡日粮中补充SGV 20或50 ppm可以提高肉鸡生长性能,改变多种生物和生理参数,如相对器官重量、血清胆固醇水平、肠道菌群和肉品质。 | Lee K W Kim J S Oh S T Kang C W An B K | 2015 | 饲料博览2015，0，3： | 2 |
| 7 | Finite element analysis and design in stainless steel sheet forming and its experimental comparison显示文摘 | Lei L P Hwang S M Kang B S | 2001 | Journal of Materials Processing Technology2001，110，1： | 2 |
| 8 | Dry slinding wear behavior of spray deposited AlCuMn alloy and AlCuMn/SiCp composite显示文摘 | GUI M S KANG B LEE J M | 2000 | J Mater Sci2000，35，： | 2 |
| 9 | Performance of ILU preconditioning techniques in simulating anisotropic diffusion in the human brain显示文摘 | Kang N Zhang J Carlson E S | 2004 | Future Generation Computer Systems2004，20，4： | 2 |
| 10 | Lanthanum-substituted bismuth titanate for use in non-volatile memories 显示文摘 | PARK B H KANG B S NOH T W | 1999 | Nature1999，401，： | 2 |
| 11 | 大当归中4个具神经保护作用的新的二氢吡喃香豆素显示文摘 | Kang S Y 徐嵬(摘) 杨秀伟(校) | 2006 | 国外医药(植物药分册)2006，21，1： | 2 |
| 12 | Oxidative stress with an activation of the renin–angiotensin system in human vascular endothelial cells as a novel mechanism of uric acid-induced endothelial dysfunction显示文摘 | Min-A Yu Laura G Sánchez-Lozada Richard J Johnson Duk-Hee Kang | 2010 | Journal of Hypertension2010，，6： | 2 |
| 13 | 分子束外延高Mg掺杂GaN的发光特性显示文摘采用分子束外延技术在蓝宝石衬底上制备Mg掺杂的立方相p-GaN,并对其不同温度下的光致发光光谱进行了研究.实验观察到高Mg掺杂GaN中施主受主对发光的反常温度行为.理论分析表明,高Mg掺杂GaN中施主受主对的发光受到陷阱与受主间竞争俘获非平衡空穴过程和空穴隧穿输运过程的影响. | 宋航 Park S H Kang T W Kim T W | 1999 | 发光学报1999，20，2： | 2 |
| 14 | An Object-Oriented Anthropometric Databases for Developing a Man Model显示文摘 | E S Jung Kang Dongeok | 1995 | International Journal of Industrial Ergonomics1995，15，： | 2 |
| 15 | Development of high conductive lead(Pb)-free conducting adhesives显示文摘 | Kang S K Rai R S | 1998 | IEEE Trans Compon Packg Manuf Tech1998，21，1： | 2 |
| 16 | Effects of limited irrigation on yield and water use efficiency of winter wheat in the Loess Plateau of China显示文摘 | Kang S Z Zhang L Liang Y L | 2002 | Agricultural Water Management2002，55，： | 1 |
| 17 | Improved serpentine laminating micromixer with enhanced local advection显示文摘 | PARK J M KIM D S KANG T G | 2008 | Microfluidics and Nanofluidics2008，4，6： | 1 |
| 18 | Cecropin A - magainin 2 hybrid peptides having potent antimicrobial activity with low hemolytic effect显示文摘 | Shin S Y Kang J H Lee M K | 1998 | Biochem Mol Biol Int1998，44，6： | 1 |
| 19 | Drop on Demand Solder Droplet Jetting System for Fabricating Microstructure显示文摘 | LEE T M KANG T G YANG J S | 2008 | Electronics Packaging Manufacturing2008，31，3： | 1 |
| 20 | Impaired angiogenesis in the aging kidney:vascular endothelial growth factor and thrombespondin-1 in renal disease显示文摘 | Kang DH Anderson S Kim YC | 2001 | Am J Kidney Dis2001，37，3： | 1 |
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