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四川省低体重儿发生因素分析

华西医科大学学报 1995年第2期26卷 210-214页

作者： Liang Juan Wu Yanqiao Miao Lei(Cooperating Group for birth defects Monitoring in Sichuan Province) 华西医科大学附属第二医院中国出生缺陷监测中心

对１９８６年１０月至１９８７年９月期间四川省１１１６７６例围产儿中的低体重儿及其发生因素进行了流行病学调查。结果：低体重儿８１７７例，发生率７３．２２‰；低体重儿死亡５１６例，死亡率７９．８９‰；孕妇年龄、胎数及城乡... 详细信息

对１９８６年１０月至１９８７年９月期间四川省１１１６７６例围产儿中的低体重儿及其发生因素进行了流行病学调查。结果：低体重儿８１７７例，发生率７３．２２‰；低体重儿死亡５１６例，死亡率７９．８９‰；孕妇年龄、胎数及城乡生活水平影响低体重儿的发生。３５岁以上孕妇所生低体重儿发生率为１００．９４‰，双胎、三胎及其以上的低体重儿发生率分别为３３１．５３‰，２６５．９６‰，乡村低体重儿发生率为９４．９１‰。

关键词：低体重儿围产儿发生率病因学流行病学四川

A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in Germany

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Genomics, Proteomics & Bioinformatics 2016年第4期14卷 181-190页

作者： Thomas Pickardt Eva Niggemeyer Ulrike M.M.Bauer Hashim Abdul-Khaliq Competence Network for Congenital Heart defects Investigators national Register for Congenital Heart defects 13353 BerlinGermany Saarland University Medical Center Department of Paediatrie Cardiology66421 HomburgGermany Competence Network for Congenital Heart defects 13353 BerlinGermany

Congenital heart disease （CHD） is the most fi＇equent birth defect （0.8% 1% of all live births）. Due to the advance in prenatal and postnatal early diagnosis and treatment, more than 90% of these patients survive into adulthood today. However, several mid- and long-term morbidi- ties are dominating the follow-up of these patients. Due to the rarity and heterogeneity of the phenotypes of CHD, multicenter registry-based studies are required. The CHD-Biobank was established in 2009 with the aim to collect DNA from patients and their parents （trios） or fi＇om affected families, as well as cardiovascular tissues from patients undergoing corrective heart surgery for cardiovascular malformations. Clinical/phenotype data are matched to the International Paediatric and Congenital Cardiac Code （IPCCC） and the International Statistical Classification of Diseases and Related Health Problems 10th Revision （ICD-10）. The DNA collection currently comprises samples from approximately 4200 participants with a wide range of CHD phenotypes. The collection covers about 430 trios and 120 families with more than one affected member. The cardiac tissue collection comprises 1143 tissue samples [Yore 556 patients alter open heart surgery. The CHD-Biobank provides a comprehensive basis for research in the field of CHD with high standards of data privacy, IT management, and sample logistics.

关键词： Congenital heart defects Multi-center research Biorepository Genetic research DNA

葡萄糖-6-磷酸脱氢酶缺乏症新生儿筛查、诊断和治疗专家共识

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中华儿科杂志 2017年第6期55卷 411-414页

作者：顾学范上海交通大学医学院附属新华医院 200092 上海市儿科医学研究所小儿内分泌/遗传科 200092

葡萄糖-15-磷酸脱氢酶（glucose-6-phosphate dehydrogenase，G6PD）缺乏症是由于红细胞膜的G6PD缺陷，导致红细胞戊糖磷酸途径中谷胱甘肽还原酶的辅酶-还原型烟酰胺腺嘌呤二核苷酸磷酸（NADPH）生成减少，使得维持红细胞膜稳定性的还... 详细信息

葡萄糖-15-磷酸脱氢酶（glucose-6-phosphate dehydrogenase，G6PD）缺乏症是由于红细胞膜的G6PD缺陷，导致红细胞戊糖磷酸途径中谷胱甘肽还原酶的辅酶-还原型烟酰胺腺嘌呤二核苷酸磷酸（NADPH）生成减少，使得维持红细胞膜稳定性的还原型谷胱甘肽生成减少而不能抵抗氧化损伤，最终导致红细胞破坏并溶血的一种遗传病。

关键词：葡萄糖-6-磷酸脱氢酶缺乏症新生儿筛查还原型烟酰胺腺嘌呤二核苷酸红细胞膜稳定性谷胱甘肽还原酶还原型谷胱甘肽专家治疗

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产前诊断实验室质量指标专家共识

中华医学遗传学杂志 2020年第12期37卷 1321-1325页

作者：无强荣陶炯王莉范歆张瑞雪王治国中国医院协会临床检验专业委员会出生缺陷防控实验技术与管理学组西北妇女儿童医院上海交通大学第一人民医院河南省人民医院广西壮族自治区妇幼保健院北京医院国家老年医学中心/国家卫生健康委临床检验中心/中国医学科学院老年医学研究院

产前诊断是指对胎儿进行先天性缺陷和遗传性疾病的诊断,涉及遗传咨询、医学影像、生化免疫、细胞和分子遗传学技术等内容。本文主要讨论产前遗传学诊断,即通过有创的方法,如绒毛取材术、羊膜腔穿刺术和脐血管穿刺术等,获得胎儿样本进行... 详细信息

产前诊断是指对胎儿进行先天性缺陷和遗传性疾病的诊断,涉及遗传咨询、医学影像、生化免疫、细胞和分子遗传学技术等内容。本文主要讨论产前遗传学诊断,即通过有创的方法,如绒毛取材术、羊膜腔穿刺术和脐血管穿刺术等,获得胎儿样本进行细胞遗传学和分子遗传学分析,最终确定胎儿是否患有某种遗传性疾病。产前诊断流程复杂,包括检测前的遗传咨询与知情同意、标本采集与递送、实验室检测与质量控制、报告发放与解读、报告后的遗传咨询与随访等,参与的机构和人员多,是需要多部门、多学科协作的系统工程。此外,产前诊断实验室的质量控制难以量化,因此迫切需要规范其流程,通过评价流程中各个环节的工作质量,进而对不同的地区进行同质化管理。

关键词：先天性缺陷羊膜腔穿刺术产前诊断遗传性疾病遗传学诊断遗传咨询多学科协作细胞遗传学

Materials and Sustainable Development

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Advances in Manufacturing 1998年第2期2卷 3-11页

作者： Shi Changxu (national Natural Science Foundation of China) Member of Chinese Academy of Sciences and Chinese Academy of Engineering National Natural Science Foundation of China Beijing

Sustainable development refers to the establishment of resources saving industrial system and pursuing clean production; the promotion of efficiency of energy utilization and the development of new energy and renewable energy resources; the improvement of ecological environment and the continuous increase in agriculture and forest production; the reduction of environmental pollution and the decrease of the greenhouse effect, and the promotion of social sustainable development including birth control and improvement of the quality of population. They are all related to materials either directly or indirectly. In the present article, four topics are emphasized: 1. Effective utilization of natural resources and recycling of wastes should be emphasized. 2. Clean production of materials to minimize environmental pollution is urgent. 3. Development of materials systems based on elements which are abundant on the earth should be consi dered. 4. Development of advanced materials and novel process is a major way of saving resources and reducing environmental pollution.

关键词： materials sustainable development

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上海市围生儿出生缺陷的调查分析

上海医科大学学报 1992年第1期19卷 51-56页

作者：上海市出生缺陷监测协作组上海市出生缺陷监测协作组上海

在上海市(1986年10月～1987年9月)的75756例围生儿出生缺陷的监测中发现,有缺陷者1012例,发生率为13.36‰,与遗传有关的缺陷占65.22％,发生率为8.71‰。其中多基因遗传性畸形最多,其次为单基因遗传性及染色体病,发生率分别为总数的4.37... 详细信息

在上海市(1986年10月～1987年9月)的75756例围生儿出生缺陷的监测中发现,有缺陷者1012例,发生率为13.36‰,与遗传有关的缺陷占65.22％,发生率为8.71‰。其中多基因遗传性畸形最多,其次为单基因遗传性及染色体病,发生率分别为总数的4.37‰、3.58‰和0.77‰。多数畸形随产妇育龄增高而有增加倾问,以多发性畸形及Down综合征为显著。产妇育龄≥35岁,畸形的发生率显著上升。建议年龄≥35岁的孕妇,以及曾分娩过缺陷儿的孕妇,均需作产前诊断监护,如有不良妊娠,应予终止,以利优生。

关键词：出生缺陷遗传学围生儿

Photo-induced effect in the layered perovskite manganite La_(1.2)Sr_(1.8)Mn_(1.8)Co_(0.2)O_(7)

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Science China(Physics,Mechanics & Astronomy) 2004年第1期47卷 113-120页

作者： ZHANG Ruili1, DAI Jianming1, SONG Wenhai1, MA Yongqing1, YANG Jie1 & SUN Yuping1,2 1. Key Laboratory of Internal Friction and defects in Solids, Institute of Solid State Physics, Chinese Academy of Sciences, Hefei 230031, China 2. national Laboratory of Solid State Microstructures, Nanjing University, Nanjing 210008, China Correspondence should be addressed to Zhang Ruili (email: rlzhang@***) Received September 1, 2003 1. Key Laboratory of Internal Friction and defects in Solids Institute of Solid State Physics Chinese Academy of Sciences 230031 Hefei China 2. national Laboratory of Solid State Microstructures Nanjing University 210008 Nanjing China

It is helpful to study the photo-induced effect in the perovskite manganites not only for elucidating the mechanism of colossal magnetoresistance (CMR) effect but also for potential applications in technology. The laser-induced effect in the Co doping layered perovskite manganites La1.2Sr1.8Mn1.8Co0.2O7 is studied in this paper and the obtained results are also compared with that gained in the Nd-doping manganites with cubic perovskite structure.

关键词： laser, layered perovskite manganites, photo-induced effect, spin-state.

An Examination on Atomic-level Stress Calculations by Nanoindentation Simulation via the Quasicontinuum Method

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Journal of Materials Science & Technology 2010年第1期26卷 56-64页

作者： Yufei Shao and Shaoqing Wang Shenyang national Laboratory for Materials Science, Institute of Metal Research, Chinese Academy of Sciences, Shenyang 110016, China [a] Shenyang national Laboratory for Materials Science Institute of Metal Research Chinese Academy of Sciences Shenyang 110016 China

Nanoindentation simulations on single crystals AI and Cu via the quasicontinuum method have been performed. Two kinds of atomic-level local stress calculation methods, i.e. the coarse-grained local stress and the virial local stress, are employed to calculate the stress state of the contact area. Various comparisons between the coarse-grained local stress and the virial local stress have been made. Firstly, the averaged normal stress beneath the contact surface calculated by coarse-grained method agrees well with continuum mechanical pressure measurement, while the virial method gives unphysical results sometimes. Secondly, the coarsegrained results reflect the indenter size effect on the critical shear stress quite accurately, while the virial calculations fail. Thirdly, the distribution of maximum shear stress of the coarse-grained method predicts the defects nucleation locations reliably, while the distribution of virial local stress gives an incorrect prediction sometimes. Thus it is concluded that the coarse-grained method can offer a more reliable description of the local stress states of atoms in spatially inhomogeneous solids.

关键词： Nanoindentation Atomistic stress Quasicontinuum

26 803例中期妊娠妇女血清筛查胎儿染色体异常的结果分析

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中华医学杂志 2007年第35期87卷 2476-2480页

作者：无胡娅莉江苏省出生缺陷干预项目组南京大学医学院附属鼓楼医院妇产科 210008

目的评价江苏省以人群为基础的中期妊娠母血清筛查胎儿染色体异常的效率。方法采用分层抽样和整群抽样相结合的多阶段抽样方法,在江苏省苏南、苏中、苏北地区以乡(镇)或街道为单位,抽取95个项目点,抽样时间为1年。项目点所有妊娠15～20... 详细信息

目的评价江苏省以人群为基础的中期妊娠母血清筛查胎儿染色体异常的效率。方法采用分层抽样和整群抽样相结合的多阶段抽样方法,在江苏省苏南、苏中、苏北地区以乡(镇)或街道为单位,抽取95个项目点,抽样时间为1年。项目点所有妊娠15～20周的妇女接受母血清甲胎蛋白(AFP)、人绒毛膜促性腺激素游离β亚单位(f-βHCG)检测,同时 B 超确定孕龄,在孕妇体重校正的基础上,计算胎儿染色体异常的风险值。对高风险者,在知情同意的基础上进行确诊检查。随访所有活产儿至出生后的0.5～4岁。结果 95个项目点1年中共有妊娠妇女27313名,参与产前筛查者26803例,占同期总妊娠妇女的98%。孕妇平均年龄25.1岁,≥35岁者占1.7%。母血清筛查为唐氏综合征高风险者1244例、爱德华综合征高风险者105例,筛查阳性率分别占筛查人群的5%、0.4%。最终妊娠结局显示染色体异常胎儿及婴幼儿共20例,其中唐氏综合征9例、爱德华综合征5例,其他染色体异常6例。本组中期妊娠母血清 AFP、f-β HCG 联合筛查唐氏综合征的检出率为56%(5/9),爱德华综合征检出率80%(4/5)。结论在严格质量控制的基础上,妊娠中期母血清AFP、f-βHCG 二联筛查胎儿染色体异常有较高的检出率,但良好的筛查成本效益比与目标出生缺陷的人群发病率有关。

关键词：唐氏综合征畸形妊娠中期产前诊断