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Mutation analysis and prenatal diagnosis of EXT1 gene mutations in Chinese patients with multiple osteochondromas

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Chinese Medical Journal 2011年第19期124卷 3054-3057页

作者： ZHU Hai-yan HU Ya-li yanG ying WU Xing ZHU Rui-fang ZHU Xiang-yu DUAN Hong-lei zhanG ying ZHOU Jin-yong Prenatal Diagnosis Center Department of Obstetrics and Gynecology the Affiliated Drum Tower Hospital of Nanjing University School of Medicine Nanjing Jiangsu 210008 China Department of Laboratory Medicine the Affiliated Drum Tower Hospital of Nanjing University School of Medicine Nanjing Jiangsu 210008 China

Background Multiple osteochondromas （MO）, an inherited autosomal dominant disorder, is characterized by the presence of multiple exostoses on the long bones. MO is caused by mutations in the EXT1 or EXT2 genes which encode glycosyltransferases implicated in heparin sulfate *** In this study, efforts were made to identify the underlying disease-causing mutations in patients from two MO families in *** Two novel EXT1 gene mutations were identified and no mutation was found in EXT2 gene. The mutation c.497T〉A in exon 1 of the EXT1 gene was cosegregated with the disease phenotype in family 1 and formed a stop codon at amino acid site 166. The fetus of the proband was diagnosed negative. In family 2, the mutation c. 1430-1431delCC in exon 6 of the EXT1 gene would cause frameshift and introduce a premature stop codon after the reading frame being open for 42 amino acids. The fetus of this family inherited this mutation from the *** Mutation analysis of two MO families in this study demonstrates its further application in MO genetic counseling and prenatal diagnosis.

关键词： multiple osteochondromas EXT1 mutation prenatal diagnosis

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基于双波长法的光声光谱气体检测（英文）

红外与毫米波学报 2018年第2期37卷 173-176页

作者：季焱易迎彦黎敏吕海飞文晓艳李玉林武汉理工大学理学院物理系湖北武汉430070 武汉精昱光电科技有限公司湖北武汉430070

光声光谱法是检测气体最灵敏的方法,气体浓度检测精度可达到ppt量级,但这需要复杂的实验系统和昂贵的器材,不利于在工程实践上使用.本文基于可调激光器的电流调制特性,提出了一种在测量气体吸收谱的吸收零点和吸收峰之间有效切换波长的... 详细信息

光声光谱法是检测气体最灵敏的方法,气体浓度检测精度可达到ppt量级,但这需要复杂的实验系统和昂贵的器材,不利于在工程实践上使用.本文基于可调激光器的电流调制特性,提出了一种在测量气体吸收谱的吸收零点和吸收峰之间有效切换波长的简单调制方法.当激光功率为2.1 m W时,甲烷气体浓度的测量极限可达到0.46 ppm,测量结果证明了双波长法的可行性.

关键词：光声光谱双波长法电流调制

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血管周围脂肪组织的影像学研究进展

中国医学影像学杂志 2022年第12期30卷 1304-1308页

作者：刘颖顾艳徐州医科大学附属连云港医院放射科江苏连云港222004

血管周围脂肪组织与血管壁之间存在复杂的、双向的旁分泌和血管分泌信号通路,病变段血管壁分泌的炎症因子和氧化产物可以影响血管周围脂肪细胞的表型;血管周围脂肪组织分泌脂肪因子发挥协同作用,共同促进病变段血管壁炎症反应。因此,血... 详细信息

血管周围脂肪组织与血管壁之间存在复杂的、双向的旁分泌和血管分泌信号通路,病变段血管壁分泌的炎症因子和氧化产物可以影响血管周围脂肪细胞的表型;血管周围脂肪组织分泌脂肪因子发挥协同作用,共同促进病变段血管壁炎症反应。因此,血管周围脂肪组织的定量和定性研究在血管炎症方面具有重要价值,并可以为心脑血管缺血性疾病的评估提供参考。本文对近年血管周围脂肪组织的研究进展进行综述。

关键词：血管周围脂肪组织动脉粥样硬化斑块心脑血管疾病正电子发射断层显像术磁共振成像影像组学综述

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一种基于完全2DPCA的二次特征选择方法

计算机工程 2008年第3期34卷 223-224,227页

作者：武妍夏莹同济大学计算机科学与技术系上海200092

提出一种基于完全二维主元分析(2DPCA)的二次特征选择方法用于人脸识别。该方法针对PCA及其改进方法的不足,结合完全2DPCA方法,用免疫算法和基于最近邻分类器的5阶交叉验证方法完成对人脸特征二次选择。基于ORL人脸数据库和Yale人脸数... 详细信息

提出一种基于完全二维主元分析(2DPCA)的二次特征选择方法用于人脸识别。该方法针对PCA及其改进方法的不足,结合完全2DPCA方法,用免疫算法和基于最近邻分类器的5阶交叉验证方法完成对人脸特征二次选择。基于ORL人脸数据库和Yale人脸数据库的实验结果表明,该方法识别效果较好。

关键词：人脸识别完全二维主元分析免疫算法最近邻分类器

Improved mammalian family phylogeny using gap-rare multiple sequence alignment:A timetree of extant placentals and marsupials

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Zoological Research 2023年第6期44卷 1064-1079页

作者： Gao-Ming Liu Qi Pan Juan Du Ping-Fen Zhu Wei-Qiang Liu Zi-Hao Li Ling Wang Chun-yan Hu Yi-Chen Dai Xiao-Xiao zhang zhan zhang yang Yu Meng Li Peng-Cheng Wang Xiao Wang Ming Li Xu-Ming Zhou Key Laboratory of Animal Ecology and Conservation Biology Institute of ZoologyChinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China School of Life Sciences University of Science and Technology of ChinaHefeiAnhui 230026China College of Life Sciences Nanjing Normal UniversityNanjingJiangsu 210023China

The timing of mammalian diversification in relation to the Cretaceous-Paleogene(KPg)mass extinction continues to be a subject of substantial *** studies have either focused on limited taxonomic samples with available whole-genome data or relied on short sequence alignments coupled with extensive species *** the present study,we improved an existing dataset from the landmark study of Meredith et al.(2011)by filling in missing fragments and further generated another dataset containing 120 taxa and 98 exonic *** these two datasets,we then constructed phylogenies for extant mammalian families,providing improved resolution of many conflicting ***,the timetrees generated,which were calibrated using appropriate molecular clock models and multiple fossil records,indicated that the interordinal diversification of placental mammals initiated before the Late Cretaceous ***,intraordinal diversification of both extant placental and marsupial lineages accelerated after the KPg boundary,supporting the hypothesis that the availability of numerous vacant ecological niches subsequent to the mass extinction event facilitated rapid ***,our results support a scenario of placental radiation characterized by both basal cladogenesis and active interordinal divergences spanning from the Late Cretaceous into the Paleogene.

关键词： Mammals Phylogeny Diversification Evolutionary model

The role of Dby mRNA in early development of male mouse zygotes

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Asian Journal of Andrology 2010年第4期12卷 567-577页

作者： Chen-Jiang Yao Wang-Jie Xu Xiu-Li Gong ying Zhou Zhi-Qiang yan Zi-Jue Zhu Zhao-Xia Wang Qiao-Li Li Xin-Bin Guo Lian-Yun Wang Duan Ma Zhong-Dong Qiao Department of Biological Science and Technology Key Laboratory of Developmental Genetics ＆ Neuropsychiatric Diseases Ministry of Education School of Life Science ＆ Biotechnology Shanghai Jiao Tong University Shanghai 200240 China Shanghai Institute of Medical Genetics Shanghai Jiao Tong University Shanghai 200240 China School of Medicine Fudan University Shanghai 200030 China

Ejaculated mammalian spermatozoa contain a complex yet specific population of mRNA. However, the possible roles that mRNA has in early zygotic and embryonic development remain unclear. We found that Dby mRNA is selectively retained in capacitated mouse spermatozoa, and is transferred into the oocyte during fertilization by reverse transcription-polymerase chain reaction even though no DBY protein expression is detected. The cellular location ofDby mRNA is seen in the post-acrosome region, and it comprises nearly half of the mouse spermatozoa in in situ hybridization. In contrast, transcripts of the control gene, Smcy, are not detected in capacitated mouse spermatozoa, although the H-Y antigen encoded by Smcy is expressed on the surface of the spermatozoa. In our microinjection experiment, the zygotic development rate of the as-Dby male pronucleus injection group was significantly lower than that of the as-Smcy male pronucleus injection group （35.9% vs. 95%, P = 0.001） and the as-Dby female pronucleus injection group （35.9% vs. 93.8%, P = 0.001）. The rate of male-developed zygotes was also lower than that of the as-Smcy male pronucleus injection group （17.4% vs. 57.9%, P = 0.002） and the as-Dby female pronucleus injection group （17.4% vs. 54.1%, P = 0.002）. Thus, we conclude that Dby mRNA is selectively retained in capaci- tated mouse spermatozoa, and it has an important role in the early zygotic development of male mouse zygotes. This might imply that spermatozoa mRNA is involved in early zygotic and embryonic stages of reproduction.

关键词： Dby early zygotic development function mRNA spermatozoa

Intermediate-Band Solar Cells Based on InAs/GaAs Quantum Dots

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Chinese Physics Letters 2011年第3期28卷 218-220页

作者： yanG Xiao-Guang yanG Tao WANG Ke-Fan GU Yong-Xian JI Hai-Ming XU Peng-Fei NI Hai-Qiao NIU Zhi-Chuan WANG Xiao-Dong CHEN yan-Ling WANG zhan-Guo Key Laboratory of Semiconductor Materials Science Institute of SemiconductorsChinese Academy of SciencesBeijing 100083 The State Key Laboratory for Superlattices and Microstructures Institute of SemiconductorsChinese Academy of SciencesBeijing 100083 Engineering Research Center for Semiconductor Integrated Technology Institute of SemiconductorsChinese Academy of SciencesBeijing 100083

We report the fabrication of intermediate-band solar cells(IBSCs)based on quantum dots(QDs),which consists of a standard P-I-N structure with multilayer stacks of InAs/GaAs QDs in the *** with conventional GaAs single-junction solar cells,the IBSCs based on InAs/GaAs QDs show a broader photo-response spectrum(>1330 nm),a higher short-circle current(about 53%increase)and a stronger radiation *** results have important applications for realizing high efficiency solar cells with stronger radiation hardness.

关键词： InAs/GaAs Solar Quantum

维生素D缺乏与Graves病相关性的研究进展

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中国骨质疏松杂志 2018年第6期24卷 826-830页

作者：詹先琴王燕新疆医科大学研究生学院新疆乌鲁木齐830000 新疆维吾尔自治区人民医院内分泌科新疆乌鲁木齐830000

维生素D作为维持机体钙磷代谢平衡的重要激素,对机体骨与矿物质盐代谢起着重要的调节作用。近年来研究发现Graves病患者体内维生素D水平偏低,这可能预示着Graves病患者机体内将出现一系列骨代谢紊乱的发生,测量Graves病患者体内维生素D... 详细信息

维生素D作为维持机体钙磷代谢平衡的重要激素,对机体骨与矿物质盐代谢起着重要的调节作用。近年来研究发现Graves病患者体内维生素D水平偏低,这可能预示着Graves病患者机体内将出现一系列骨代谢紊乱的发生,测量Graves病患者体内维生素D水平,有助于Graves病相关骨质疏松的治疗和预防。此外,还有研究者发现维生素D缺乏可能参与Graves病的发生发展,而补充维生素D可能有助于Graves病的预防和治疗。本文将对维生素D与Graves病相关性及其可能存在的机制的研究新进展进行综述。

关键词：维生素D GraVeS病自身免疫性疾病促甲状腺激素受体抗体骨质疏松

Paeonol Improves Lipopolysaccharide-induced Microcirculatory Disturbance in Rat Mesentery

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World Journal of Traditional Chinese Medicine 2015年第1期1卷 37-44页

作者： Lei Dong Ang Li Mei-Li Duan Kai Sun Yu-ying Liu Ming-Xia Wang Chuan-She Wang Jing-Yu Fan Jing-yan Han Department of Critical Care Medicine Beijing Friendship Hospital Capital Medical University Tasly Microcirculation Research Center Peking University Health Science Center Department of Integration of Chinese and Western Medicine School of Basic Medical Sciences Peking University Key Laboratory of Microcirculation State Administration of Traditional Chinese Medicine of China Key Laboratory of Stasis and Phlegm of State Administration of Traditional Chinese Medicine

Objective: To investigate the effect of paeonol on lipopolysaccheride(LPS)-induced rat mesenteric microcirculatory ***: Male Wistar rats were randomly distributed into 5 groups(n=6 in each): Sham group, LPS group, paeonol group, paeonol+LPS group, and LPS+paeonol group. Endotoximia model was conducted by continuous LPS infusion. Changes in mesenteric microcirculatory variables, including diameter of venule, velocity of red blood cells in venule, leukocyte adhesion, free radicals produced in venule and albumin leakage from venule, were observed through an inverted intravital microscope. Meanwhile, the expression of myeloperoxidase(MPO), CD18,intercellular adhesion molecule-1(ICAM-1), toll-like receptor 4(TLR4), nuclear factor-kappa B p65 subunit(NF-κB p65), activator protein-1(AP-1), and Jun N-terminal kinase(JNK) was assessed by Western ***: After infusion of LPS, the number of leukocytes adherent to venular wall, the intensity of dihydrorhodamine 123(DHR)fluorescence in the venular walls, and albumin leakage from venules were significantly increased, whereas the red blood cell velocity in venule was decreased. All the manifestations were significantly reduced by pre-treatment and post-treatment with paeonol. Moreover, paeonol significantly attenuated the expression of MPO, CD18, ICAM-1, TLR4, NF-κB p65, AP-1 and JNK in rat mesentery after ***: The results demonstrated that paeonol could protect from and ameliorate the microcirculation disturbance induced by LPS.

关键词： Paeonol Microcirculation Leukocyte adhesion Albumin leakage