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The genetic load for hereditary hearing impairment in chinese population and its clinical implication

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Journal of Otology 2009年第2期4卷 98-105页

作者： WANG Qiu-ju 1,2, RAO Shao-qi 1, 3, GUO Yu-fen 4, LI Qing-zhong 5, ZHAO Hui 1, ZHAO Li-dong 1, YUAN Hu 1, ZONG Liang 1, LIU Qiong 1, ZHAO Ya-li 6, WANG Da-yong 1, HAN Ming-kun 1, JI Yu-bin 1, LI Jian-qiang 1, LAN Lan 1, YANG Wei-yan 1, SHEN Yan 2,6, HAN Dong-yi 1 1 Department of Otorhinolaryngology-Head and Neck Surgery, and Institute of Otolaryngology, chinese People’s Liberation Army General Hospital, Beijing, 100853 china 2 chinese national human genome center, Beijing, 100176 china 3 Department of Medical Statistics and Epidemiology, School of Public health, Sun Yat-Sen University, Guangzhou, 510080, china 4 Department of Otorhinolaryngology, Head and Neck Surgery, Second Hospital of Lanzhou University, Lanzhou 730030, china 5 Department of Otolaryngology, EYE & ENT hospital of Fudan University, shanghai, 200031,china 6 Institute of Basic Medical Sciences, chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005 china Department of Otorhinolaryngology–Head and Neck Surgery and Institute of Otolaryngology Chinese People’s Liberation Army General Hospital Beijing 100853 China chinese national human genome center Beijing 100176 China Department of Medical Statistics and Epidemiology School of Public Health Sun Yat–Sen University Guangzhou 510080 China Department of Otorhinolaryngology Head and Neck Surgery Second Hospital of Lanzhou UniversityLanzhou 730030 China Department of Otolaryngology EYE & ENT hospital of Fudan University Shanghai 200031China Institute of Basic Medical Sciences Chinese Academy of Medical Sciences and Peking Union Medical College Beijing 100005 China

Objective To understand the genetic load in the chinese population for improvement in diagnosis, prevention and rehabilitation of deafness. Methods DNA samples, immortalized cell lines as well as detailed clinical and audiometric data were collected through a national genetic resources collecting network. Two conventional genetic approaches were used in the studies. Linkage analysis in X chromosome and autosomes with microsatellite markers were performed in large families for gene mapping and positional cloning of novel genes. Candidate gene approach was used for screening the mtDNA 12SrRNA, GJB2 and SLC26A4 mutations in population -based samples. Results A total of 2,572 chinese hearing loss families or sporadic cases were characterized in the reported studies, including seven X-linked, one Y-linked, 28 large and multiplex autosomal dominant hearing loss families, 607 simplex autosomal recessive hereditary hearing loss families, 100 mitochondrial inheritance families, 147 GJB2 induced hearing loss cases, 230 cases with enlarged vestibular aqueduct (EVA) syndrome, 169 sporadic cases with auditory neuropathy, and 1,283 sporadic sensorineural hearing loss cases. Through linkage analysis or sequence analysis, two X-linked families were found transmitting two novel mutations in the POU3F4 gene, while another X -linked family was mapped onto a novel locus, nominated as AUNX1 (auditory neuropathy, X-linked locus 1). The only Y-linked family was mapped onto the DFNY1 locus(Y-linked locus 1, DFNY1). Eight of the 28 autosomal dominant families were linked to various autosomal loci. In population genetics studies, 2,567 familial cases and sporadic patients were subjected to mutation screening for three common hearing loss genes: mtDNA 12S rRNA 1555G, GJB2 and SLC26A4. The auditory neuropathy cases in our samples were screened for OTOF gene mutations. Conclusions These data show that the chinese population has a genetic load on hereditary hearing loss. Establishing personalize

关键词： Hereditary hea ring loss linkage analysis DFNY1 AUNX1 auditory neuropathy enlarged vestibular aqueduct senserineural hearing loss genetic epidemiology

Comparative genomic hybridization (CGH) microarray reveals genetic diversity among the main epidemic leptospira interrogans in china

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Comparative genomic hybridization (CGH) microarray reveals g...

首届全国微生物基因组学学术研讨会

作者： Ping He, Yue-Ying Sheng, Yao-Zhou Shi, Xiu-Gao Jiang, Jin-Hong Qin, Zhi-Ming Zhang, Guo-Ping Zhao, Xiao-Kui Guo Department of microbiology and parasitology. shanghai Jiaotong university, shanghai 20025, china national engineering center for biochip at shanghai, Zhangjiang High Tech Park, 201203, china.

Leptospira species colonize a significant proportion of rodent populations worldwide and produce life-threatening infections in accidental hosts, including humans. Comparative genomic hybridization (CGH) microarray analysis was used to compare the gene content of L. interrogans serovar Lai strain Lai with the gene contents of other L. interrogans strains. Missing genes in a tested strain were detected on a microarray slide spotted with 3,528 open reading frames (ORFs) of L. interrogans serovar Lai strain Lai. For 11 strains subjected to the CGH microarray analyses 280 ORFs were found to be absent in at least one strain. The common backbone of the L. interrogans genome was estimated to contain about 2,948 ORFs. The strain-specific genes include genes encoding cell surface structures, metabolism genes and Cellular processes. Genes involved in O-antigen synthesis were highly divergent in strains belonging to the different serogroups, which revealed that antigenic differences between the serogroups are due to genes in the rfb locus. Examination of the genomic context of the strain-specific genes suggests that many are horizontally acquired. The data demonstrated that the CGH microarray technique is useful for genomic comparisons.

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Effects of glycyrrhetinic acid on collagen metabolism of hepatic stellate cells at different stages of liver fibrosis in rats

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World Journal of Gastroenterology 2001年第1期7卷 115-119页

作者： Ji Yao Wang Qi Sheng Zhang Ji Sheng Guo Mei Yu Hu Department of Gastroenterology, Zhongshan Hospital, Medical center, Fu Dan University shanghai Medical University), shanghai 200032, china Department of Internal Medicine Zhongshan Hospital Medical Center Fu Dan University Shanghai 200032 China.

INTRODUCTIONLiver fibrosis is a dynamic course leading tocirrhosis from a various chronic liver diseases. Thepathological basis of fibrosis is the disturbance ofproduction and degradation of the extracellularmatrix (E... 详细信息

关键词： Administration, Topical Animals Anti-Inflammatory Agents Carbon Tetrachloride Cell Division Collagen Type I Collagen Type III Collagenases disease Models, Animal Gene Expression Glycyrrhetinic Acid Liver Cirrhosis Plasmids Procollagen Proline RNA, Messenger Rats Rats, Sprague-Dawley Research Support, Non-U.S. Gov't Thymidine Tritium

EPIDEMIOLOGICAL CHARACTERS AND CONTROL STRATEGY OF CYSTICERCOSIS IN china

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EPIDEMIOLOGICAL CHARACTERS AND CONTROL STRATEGY OF CYSTICERC...

第十九届国际动物学大会

作者： Y.D Chen. L.G. Xu and X.N. Zhounational Institute of Parasitic diseases chinese center for disease Control and Prevention shanghai 20025 PR china

＜正＞Cysticercosis is a common and prevalent parasitic zoo-nosis in china. In order to understand more on the disease epidemiology, this review is focused on the disease transmission and disease burden of human in-

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Egr-1 decreases adipocyte insulin sensitivity by tilting PI3K/Akt and MAPK signal balance in mice

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Egr-1 decreases adipocyte insulin sensitivity by tilting PI3...

“细胞活动生命活力”——中国细胞生物学学会全体会员代表大会暨第十二次学术大会

作者： Xiao Yu~(3#),Ning Shen~(1#),Ming-Liang Zhang~(4#),Fei-Yan Pan~1,Chen Wang~4,Wei-Ping Jia~4,Chang Liu~3,Qian Gao~1, Xiang Gao~1,Bin Xue~1,Chao-Jun Li~(1,2) 1.MOE Key laboratory of Model Animals for disease Study,Model Animal Research center and the Medical School of Nanjing University,national Resource center for Mutant Mice.Nanjing 210061,china 2.Zhcjiang Provincial Key Lab for Technology & Application of Model Organisms,School of Life Sciences,Wenzhou Medical College, University Park,Wenzhou 325035,china. 3.The Jiangsu Key laboratory for Molecular and Medical Biotechnology,College of Life Sciences,Nanjing Normal University,Nanjing 210046,china 4.Department of Endocrinology and Metabolism,shanghai Diabetes Institute shanghai Clinical center of Diabetes shanghai Key laboratory of Diabetes Mellitus,shanghai Jiao Tong University Affiliated Sixth People’s Hospital,shanghai 200233,china

It is well-known that insulin can activate both PDK/Akt pathway,which is responsible for glucose uptake,and MAPK pathway,which is crucial for insulin resistance *** it is unclear exactly how the two pathways coordinate to regulate insulin sensitivity upon hyperinsulinism stress of type 2 diabetes mellitus(T2DM).Here we show that an early response transcription factor Egr-1 could tilt the signaling balance by blocking PI3K/Akt signaling through PTEN and augmenting Erk/MAPK signaling through GGPPS,resulting in insulin resistance in ***-1,PTEN and GGPPS are upregulated in the fat tissue of T2DM patients and db/db ***-1 overexpression in epididymal fat induced systematic insulin resistance in wild-type mice,and loss of Egr-1 function improved whole-body insulin sensitivity in diabetic mice,which is mediated by Egr-1 controlled PDK/Akt and Erk/MAPK signaling balance. Therefore,we have revealed,for the first time,the mechanism by which Egr-1 induces insulin resistance under hyperinsulinism stress,which provides an ideal pharmacological target since inhibiting Egr-1 can simultaneously block MAPK and augment PDK/Akt activation during insulin stimulation.

关键词： Egr-1 GGPPS insulin rsistance

中国难治性全身型重症肌无力诊断和治疗专家共识(2024版)

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中华神经科杂志 2024年第8期57卷 840-847页

作者：中国罕见病联盟神经罕见病专业委员会中国罕见病联盟重症肌无力协作组中华医学会神经病学分会神经肌肉病学组赵重波焉传祝岳耀先不详复旦大学附属华山医院神经内科华山医院罕见病中心国家神经疾病医学中心上海200040 山东大学齐鲁医院神经内科济南250012 青岛市疑难罕见病中心青岛266035 山东大学齐鲁医院(青岛)

难治性全身型重症肌无力(gMG)是对常规免疫治疗药物反应有限、不能耐受药物不良反应或病情易反复、难以达到治疗目标的一类疾病。为了便于在临床研究中对其诊断标准形成共识,为难治性gMG的诊疗方案及新型靶向药物的规范使用提供参考依据... 详细信息

难治性全身型重症肌无力(gMG)是对常规免疫治疗药物反应有限、不能耐受药物不良反应或病情易反复、难以达到治疗目标的一类疾病。为了便于在临床研究中对其诊断标准形成共识,为难治性gMG的诊疗方案及新型靶向药物的规范使用提供参考依据,中国罕见病联盟神经罕见病专业委员会、中国罕见病联盟重症肌无力协作组和中华医学会神经病学分会神经肌肉病学组的相关专家基于当前最佳循证证据,结合我国的国情,讨论并制订了中国难治性gMG诊断和治疗专家共识(2024版),内容包括难治性gMG的诊断标准、危险因素、抗体复核、合并疾病鉴别及治疗等。

关键词：重症肌无力诊断治疗共识

Physical mapping of a rice lesion mimic gene

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Physical mapping of a rice lesion mimic gene

第十三届全国植物基因组学大会

作者： Yufeng Jing,Bin Han~* national center For Gene Research,Cas,500 Cao Bao Road shanghai 200233,P,R,china

Lesion mimic mutants in plants form spontaneous lesions in the absence of pathogen *** withγ-ray,we isolated a rice *** mutant displayed spontaneous disease-like lesions on leaf in the absence of any *** mutant is a ...

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中国自身免疫性胰腺炎诊治指南(上海,2023)

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中华胰腺病杂志 2024年第2期24卷 81-93页

作者：国家消化系统疾病临床医学研究中心(上海) 免疫与炎症全国重点实验室中国医师协会胰腺病学专业委员会中华医学会消化病学分会胰腺疾病学组《中华胰腺病杂志》编辑委员会李兆申李汛郭晓钟廖专辛磊蔡亦李胡良李宏宇吴东不详海军军医大学第一附属医院消化内科上海200433 兰州大学第一医院普外科兰州730000 北部战区总医院消化内科沈阳110840 海军军医大学第一附属医院海军特色医学中心北部战区总医院北京协和医院

自身免疫性胰腺炎(AIP)是一种由免疫介导的、特殊类型的慢性胰腺炎,可合并全身多器官的损害,临床表现复杂多样,诊治仍具有一定困难。本指南结合国内外AIP最新指南和研究进展,针对AIP的诊断、治疗、随访和预后4个方面,共提出20条推荐意见... 详细信息

自身免疫性胰腺炎(AIP)是一种由免疫介导的、特殊类型的慢性胰腺炎,可合并全身多器官的损害,临床表现复杂多样,诊治仍具有一定困难。本指南结合国内外AIP最新指南和研究进展,针对AIP的诊断、治疗、随访和预后4个方面,共提出20条推荐意见,旨在规范和提高我国AIP的诊治水平,改善患者预后。

关键词：自身免疫性胰腺炎 IgG4相关性疾病指南多学科诊治

Expert consensus on COVID-19 vaccination in children

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World Journal of Pediatrics 2021年第5期17卷 449-457页

Coronavirus disease 2019(COVID-19)is a public health disaster that has not been encountered for a hundred *** January 12,2020,the World health Organization(WHO)confirmed and named the coronavirus which caused unexplained pneumonia as 2019 novel coronavirus(2019-nCoV).Since then,the disease caused by this virus had been named as coronavirus disease 2019(COVID-19).On February 11,2020,the International Committee on Taxonomy of Viruses announced that the English name of the novel coronavirus was severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)[1].At present,SARS-CoV-2 infection is still rampant *** of September 10,2021,there were about 222 million confirmed cases of COVID-19 and more than 4.5 million deaths worldwide[2].According to the American centers for disease Control and Prevention,by July 29,2021,4.19 million pediatric COVID-19 cases had been reported in the United States。

关键词： acute vaccination respiratory