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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2015年第11期16卷 963-968页

作者： Zhe zhang Ye FENG Dan YE Cheng-jiang LI Feng-qin DONG Ying TONG Department of Endocrinology the First Affiliated Hospital School of Medicine Zhejiang University Department of Neurosurgery the First Affiliated Hospital School of Medicine Zhejiang University

Congenital X-linked adrenal hypoplasia （AHC） is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism （HHG） during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 （DAX-1） mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation （1268dela） of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype.

关键词： Congenital X-linked adrenal hypoplasia Primary adrenal insufficiency Hypogonadotropic hypogonadism

CTSK基因突变导致致密性成骨不全症一家系研究

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中华内分泌代谢杂志 2019年第7期35卷 586-590页

作者：张晓亚章振林上海交通大学附属第六人民医院骨质疏松和骨病专科骨代谢病和遗传研究室200233 同济大学附属同济医院内分泌科上海200065

本研究分析由于组织蛋白酶K(cathepsin K, CTSK)基因突变导致的致密性成骨不全症一先证者及其家系成员的临床特征,旨在提高对该罕见病的认识。该家系先证者为8岁男性,非近亲婚配后代,身高116.6 cm(-2SD),牙列紊乱,胫骨骨折2次,全身骨骼... 详细信息

本研究分析由于组织蛋白酶K(cathepsin K, CTSK)基因突变导致的致密性成骨不全症一先证者及其家系成员的临床特征,旨在提高对该罕见病的认识。该家系先证者为8岁男性,非近亲婚配后代,身高116.6 cm(-2SD),牙列紊乱,胫骨骨折2次,全身骨骼密度升高,全外显子组测序和Sanger测序证实其携带CTSK基因复合杂合突变,其中位于5号外显子的杂合错义突变(c.440C>T)为新生突变,导致***147Val(A147V),另一个位于6号外显子的缺失突变(c.778dela)遗传自先证者父亲,导致***260AlafsX15;先证者母亲及妹妹未携带上述突变。临床上,致密性成骨不全症需与石骨症和其他类型的骨硬化症鉴别。

关键词：致密性成骨不全症组织蛋白酶K基因复合杂合突变

Endoplasmic reticulum stress and proteasome pathway involvement in human podocyte injury with a truncated COL4A3 mutation

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Chinese Medical Journal 2019年第15期132卷 1823-1832页

作者： Hui-Di zhang Jian-Ni Huang Yun-Zi Liu Hong Ren Jing-Yuan Xie Nan Chen Department of Nephrology Institute of Nephrology Ruijin Hospital Shanghai Jiao Tong University School of Medicine Shanghai 200025 China

Background:Collagen type Ⅳ(COL4)-related nephropathy includes a variety of kidney diseases that occur with or without extra-renal manifestations caused by COL4A3-5 *** studies revealed several novel mutations,including three COL4A3 missense mutations (G619R,G801R,and C1616Y) and the COL4A3 chr:228172489dela c.4317dela ***1440ProfsX87 frameshift mutation that resulted in a truncated NC1 domain (hereafter named COL4A3 c.4317dela);however,the mutation mechanisms that lead to podocyte injury remain *** study aimed to further explore the mutation mechanisms that lead to podocyte ***:Wild-type (WT) and four mutant COL4A3 segments were constructed into a lentiviral plasmid,then stably transfected into human ***-time polymerase chain reaction and Western blotting were applied to detect endoplasmic reticulum stress (ERS)-and apoptosis-related mRNA and protein ***,human podocytes were treated with MG132 (a proteasome inhibitor) and brefeldin A (a transport protein inhibitor).The human podocyte findings were verified by the establishment of a mus-Col4a3 knockout mouse monoclonal podocyte using clustered regularly interspaced short palindromic repeats/CRISPR-associated protein 9 (CRISPR/Casg) ***:Our data showed that COL4A3 mRNA was significantly overexpressed in the lentivirus stably transfected ***,the COL4A3 protein level was significantly increased in all groups except the COL4A3 c.4317dela *** to the other test groups,the COL4A3 c.4317dela group showed excessive ERS and *** treated with MG 132 showed remarkably increased intra-cellular expression of the COL4A3 c.4317dela ***132 intervention improved higher ERS and apoptosis levels in the COL4A3 c.4317dela *** monoclonal podocytes with COL4A3 chr:82717932insA c.4852insA ***1618ThrfsX4 were successfully acquired;this NC1-truncated mutation suggested a higher level of ERS and relatively remarkable

关键词： Collagen type Ⅳ-related nephropathy COL4A3 mutation Podocyte injury Proteasome pathway MG132 Endoplasmic reticulum stress

Shashi-Pena综合征1家系遗传学分析

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中华实用诊断与治疗杂志 2024年第6期38卷 618-622页

作者：史停停任增果杨科秦利涛雷星星霍晓东张冰廖世秀王莉郑州大学人民医院河南省人民医院医学遗传研究所河南郑州450003 河南大学人民医院河南省人民医院医学遗传研究所河南郑州450003

目的分析1家系Shashi-Pena综合征患儿的临床资料,探讨其遗传学病因,对该家系进行遗传咨询及产前诊断。方法 2022年4月河南省人民医院诊治1家系Shashi-Pena综合征患儿,收集临床资料,采集先证者及其父母外周血,行染色体G显带核型分析及... 详细信息

目的分析1家系Shashi-Pena综合征患儿的临床资料,探讨其遗传学病因,对该家系进行遗传咨询及产前诊断。方法 2022年4月河南省人民医院诊治1家系Shashi-Pena综合征患儿,收集临床资料,采集先证者及其父母外周血,行染色体G显带核型分析及全外显子组测序,采用生物信息学软件分析可疑致病性突变位点,检索ExAC、1000Genomes、gnomeAD数据库对基因突变位点进行比对,采用Sanger测序法验证致病基因突变情况。应用UCSC软件分析人、黑猩猩、恒河猴、狼、牛、小鼠、大鼠7个物种基因突变位点的保守性,应用Swiss-Model软件分析基因突变位点的蛋白结构,依据ACMG指南对突变进行致病性评级。采集先证者母亲羊水,行基因检测并培养羊水细胞行胎儿染色体核型分析,胎儿出生后随访至6个月龄。结果先证者存在智力障碍、语言运动发育迟缓、大头畸形及特殊面容等表现。先证者存在ASXL2基因c.1230dela(***410Asnfs*13)杂合突变;先证者父母该位点均为野生型,该突变为首次报道的新发突变。人、黑猩猩、恒河猴、狼、牛、小鼠、大鼠7个物种ASXL2基因编码的第410位氨基酸均呈高度保守;ASXL2基因c.1230dela位点突变为移码突变,导致ASXL2蛋白结构改变;该突变在ExAC、1000Genomes、gnomeAD数据库均未见收录;ACMG指南评级为致病性突变。结合该家系患儿临床表现、遗传特征、基因测序及致病性分析结果,诊断为ASXL2基因突变引起的Shashi-Pena综合征。胎儿未携带ASXL2基因c.1230dela突变,染色体核型分析未见明显异常;出生后随访至6个月龄,未出现特殊面容,发育未见明显异常。结论 ASXL2基因c.1230dela(***410Asnfs*13)杂合突变是该家系Shashi-Pena综合征患儿的遗传学病因,可为该家系夫妇遗传咨询及胎儿产前诊断提供依据。

关键词： Shashi-Pena综合征 ASXL2基因全外显子组测序产前诊断

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大滞后系统中仿人智能二自由度控制

微计算机信息 2007年第22期23卷 43-45页

作者：张洲张玲郑恩让陕西科技大学陕西咸阳712081

针对大时滞系统,提出了一种仿人智能二自由度控制方法.该方法通过使用仿人智能控制器代替PID控制器,使系统的鲁棒性和抗扰性得到明显改善。仿真研究结果表明,即使对于大纯滞后且有扰动的系统,其参数与结构发生变化时,系统仍能获得较好... 详细信息

针对大时滞系统,提出了一种仿人智能二自由度控制方法.该方法通过使用仿人智能控制器代替PID控制器,使系统的鲁棒性和抗扰性得到明显改善。仿真研究结果表明,即使对于大纯滞后且有扰动的系统,其参数与结构发生变化时,系统仍能获得较好的控制性能。

关键词：滞后系统二自由度控制仿人智能控制

Differences of Matrix Metalloproteinase 2 Expression between Left and Right Ventricles in Response to Nandrolone Decanoate and/or Swimming Training in Mice

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Chinese Medical Journal 2018年第2期131卷 207-212页

作者： Ying Bai Xu-Bo Shi Yu-Qiong zhang Yue-Li Wang Xin-Yao Liu Maria Asuncion Esteve-Pastor Cardiovascular Center Beijing Tongren Hospital Capital Medical University Beijing 100730 China Department of Echocardiography Beijing Anzhen Hospital Capital Medical university National Clinical Research Center for Cardiovascular Diseases Beijing 100029 China Department of Cardiology Hospital Clinico Universitario Virgen'dela Arrixaca Instituto Murciano de Investigacion Biosanitaria (IMIB-Arrixaca) CIBER-CV Murcia 30120 Spain

Background： Matrix metalloproteinase （MMP）-2 plays an important role in the remodeling of left ventricles （LVs） and right ventricles （RVs）. We investigated the differences of MMP-2 expression between LV and RV in response to nandrolone dccanoate （ND）, swimming training （ST）, and combined ND and ST （NS） in mice, based on their structural, functional, and biochemical characteristics. Methods： Totally 28 male C57B1 mice （6 weeks old; 20-23 g） were divided into four groups, including the control （n = 7）, ND （n = 6）, ST （n = 8）, and NS （n = 7） groups. After respective treatments for 8 weeks, echocardiographic examination was used to assess the cardiac structure and function. Van Gieson stain was used to examine the fibrosis of LV and RV in response to different treatments, and Western blotting analysis was performed to explore different MMP-2 expressions between LV and RV in response to ND and/or ST. Analysis of variance was used for comparing the four groups. Results： At 8 weeks, right ventricular dimension/body weight in the ND group was larger than the other three groups （F = 7.12, P 〈 0.05） according to the echocardiographic examination. Fibrosis induced by ND administration was increased more in RV （2.59%） than that in LV （2.21%）. MMP-2 expression of the ND group in RV was significantly greater than the control and NS groups in RV and the corresponding ND group in LV. Conclusion： The experimental data support the hypothesis that ND administration induces greater MMP-2 expression increase in RV compared to LV, leading to consequent RV dilation.

关键词： Fibrosis Matrix Metalloproteinase 2 Nandrolone Decanoate Swimming Training

Identification of FECH gene multiple variations in two Chinese patients with erythropoietic protoporphyria and a review

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Journal of Zhejiang University-Science B(Biomedicine & Biotechnology) 2016年第10期17卷 813-820页

作者： zhang-biao LONG Yong-wei WANG Chen YANG Gang LIU Ya-li DU Guang-jun NIE Yan-zhong CHANG Bing HAN Department of Hematology Peking Union Medical College HospitalChinese Academy of Medical Sciences and Peking Union Medical College Laboratory of Molecular Iron Metabolism College of Life ScienceHebei Normal University Chinese Academy of Sciences Key Laboratory for Biomedical Effects of Nanomaterials and Nanosafety National Center for Nanoscience and Technology

Erythropoietic protoporphyria（EPP）, an autosomal dominant disease, is caused by partial deficiency of ferrochelatase（FECH）, which catalyzes the terminal step of heme biosynthesis because of loss-of-function mutations in the FECH gene. To date, only a few cases have been described in Asia. In this study, we describe the clinical features of two Chinese patients with EPP, with diagnosis confirmed by the increase of free protoporphyrin in erythrocytes, detection of plasma fluorescence peak at 630–634 nm, and analysis of FECH gene mutations. Using gene scanning, we identified a small deletion in the FECH gene（c.973 dela） in one proband（patient A） and a pathogenic FECH mutation（c.1232 GT） in the other（patient B） and also observed some nucleotide variations（c.798 CG, c.921 AG, IVS1-23 CT, IVS3＋23 AG, IVS9＋35 CT, and IVS3-48 TC） in these patients. The family pedigree of patient A was then established by characterization of the genotype of the patient＇s relatives. We also analyzed the potential perniciousness of the missense mutation with bioinformatic software, Polyphen and Sift. In summary, Chinese EPP patients have similar manifestations to those of Caucasians, and identification of the Chinese FECH gene mutations expands the FECH genotypic spectrum and may contribute to genetic counseling.

关键词： Erythropoietic protoporphyria Chinese patients Clinical manifestation Ferrochelatase Missense mutations

珠三角经济发展方式转变对海峡西岸经济区的启示

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科技管理研究 2014年第14期34卷 210-216,220页

作者：许梅枝张向前华侨大学人力资源管理系福建泉州362021

经济发展方式转变是海峡西岸经济区经济发展的必然要求。珠江三角洲通过调整产业结构,积极发展现代服务业和高新技术产业、实施产业和劳动力双转移并改造传统产业,加快区域一体化,推进地方特色经济发展促进经济发展方式转变。当前海西... 详细信息

经济发展方式转变是海峡西岸经济区经济发展的必然要求。珠江三角洲通过调整产业结构,积极发展现代服务业和高新技术产业、实施产业和劳动力双转移并改造传统产业,加快区域一体化,推进地方特色经济发展促进经济发展方式转变。当前海西经济发展面临产业结构不合理、自主创新能力不足等问题并制约了其经济发展方式转变,未来可积极借鉴珠三角地区的经验,贯彻落实政府政策,通过构建创新体系、提高自主创新能力、调整产业结构、大力发展服务业、打造海西一体化经济圈、促进闽台合作等措施促进海西经济发展方式转变,促进海峡西岸经济区跨越发展。

关键词：珠三角海峡西岸经济区转变经济发展方式启示

联盟与多偶婚:作为政治范畴的媵妾制与巴力婚

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民族学刊 2018年第4期9卷 79-89,126-128页

作者：黄子逸张亚辉厦门大学人文学院人类学与民族学系

基于葛兰言关于上古中国封建社会一夫多妻制的研究梳理,本文讨论了多偶婚研究在政治人类学中的价值意义。通过比较上古中国的媵妾制和古代阿拉伯的巴力婚这两种多偶婚形式所代表的两种联结社会的不同方式,可以看到群婚制的不同发展方向... 详细信息

基于葛兰言关于上古中国封建社会一夫多妻制的研究梳理,本文讨论了多偶婚研究在政治人类学中的价值意义。通过比较上古中国的媵妾制和古代阿拉伯的巴力婚这两种多偶婚形式所代表的两种联结社会的不同方式,可以看到群婚制的不同发展方向对于不同文明早期形态的形塑至为关键。在上古中国,"华夏"作为封建贵族联盟的"通婚圈",其形塑了上古中国社会的一种整体性,而贵族联姻的媵妾制则是维系这种等级性的联盟关系之产物。

关键词：多偶婚媵妾制巴力婚葛兰言(***)

病痛体验与秩序感知的转换:医学人类学视野中的白裤瑶仪式治疗

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西南边疆民族研究

西南边疆民族研究 2023年第1期 5-14页

作者：张琪四川大学公共管理学院

理解仪式治疗何以有效,需走出“社会—心理”的共性生物视角,从“文化逻辑”切入考察信仰者对“疾病”与“治疗”的双重文化建构。在白裤瑶的信仰中,疾病本质上是人与阴间“德拉”的关系异常造成的身体构成异常,这套宗教宇宙观将抽象疾... 详细信息

理解仪式治疗何以有效,需走出“社会—心理”的共性生物视角,从“文化逻辑”切入考察信仰者对“疾病”与“治疗”的双重文化建构。在白裤瑶的信仰中,疾病本质上是人与阴间“德拉”的关系异常造成的身体构成异常,这套宗教宇宙观将抽象疾病进行具体化的还原处理,排解对疾病认知不清的恐惧;治疗本质上是神灵修缮人与“德拉”的关系并恢复人的身体构成,神灵的超越性为治疗提供了技术和道德上的风险控制,缓解疗效无法预期的焦虑。白裤瑶的仪式治疗向病患阐明的是人在宇宙世界稳定存在的秩序条件,从而将“治疗疾病”转换为“重建秩序”,淡化对身体病痛的关注,引导病患通过感知存在意义上的秩序来确认自身的安全。

关键词：仪式治疗秩序白裤瑶瑶族