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Implementing comprehensive genetic carrier screening in China―Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China

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Pediatric Investigation 2018年第1期2卷 30-36页

作者： yiping shen Xiaoxia Qiu Baohen Gui sheng He Hefeng Huang Jingjie Xue Xiangming Xu Xue Zhang Lin He Research Institute for Birth Defect Prevention and Control Guangxi Maternal and Child Health Hospital Guangxi China Department of Medical genetics at Shanghai Children's Medical Center Shanghai Jiao Tong University School of Medicine Shanghai ChinaDivision of Genetics and Genomics at Boston Children's Hospital Harvard Medical School Boston USA Research Institute for Birth Defect Prevention and Control Guangxi Maternal and Child Health Hospital Guangxi China The International Peace Maternity and Child Health Hospital School of Medicine Shanghai Jiao Tong University Shanghai ChinaInstitute of Embryo-Fetal Original Adult Disease Shanghai Key Laboratory for Reproductive Medicine School of Medicine Shanghai Jiao Tong University Shanghai China March of Dimes Birth Defects Foundation of China Department of Medical Genetics School of Basic Medical Sciences Southern Medical University Guangzhou Guangdong ChinaGuangdong Technology and Engineering Research Center for Molecular Diagnostics of Human Genetic Diseases Guangzhou Guangdong China Guangdong Key Laboratory of Biological Chip Guangzhou Guangdong China The Research Center for Medical Genomics China Medical University Shenyang ChinaMcKusick-Zhang Center for Genetic Medicine State Key Laboratory of Medical Molecular Biology Institute of Basic Medical Sciences Chinese Academy of Medical Sciences School of Basic Medicine Peking Union Medical College Beijing China Bio-X Institute Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education) Shanghai Jiao Tong University Shanghai China

Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next-generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening. The authors propose a comprehensive carrier screening program as a main component of the first-tier measure in preventing severe genetic disorders and birth defects in China. We discussed the key principles and important aspects to ensure the success of such a program. The authors believe this program will play a pivotal role in our endeavor for a healthier nation.

关键词： Carrier screening Next generation sequencing Birth defect Genetic disease

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Functional divergences of natural variations of TaNAM-A1 in controlling leaf senescence during wheat grain filling

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Journal of Integrative Plant Biology 2024年第6期66卷 1242-1260页

作者： Longxi Zhou Guowei Chang Chuncai shen Wan Teng Xue He Xueqiang Zhao Yanfu Jing Zhixiong Huang yiping Tong Key Laboratory of Seed Innovation Institute of Genetics and Developmental SciencesChinese Academy of SciencesBeijing 100101China University of Chinese Academy of Sciences Beijing 100049China The Innovative Academy of Seed Design Chinese Academy of SciencesBeijing 100101China

Leaf senescence is an essential physiological process related to grain yield potential and nutritional *** leaf duration(GLD)after anthesis directly reflects the leaf senescence process and exhibits large genotypic differences in common wheat;however,the underlying gene regulatory mechanism is still ***,we identified TaNAM-A1 as the causal gene of the major loci q GLD-6A for GLD during grain filling by map-based *** assays and TILLING mutant analyses demonstrated that TaNAM-A1 played a critical role in regulating leaf senescence,and also affected spike length and grain ***,the functional divergences among the three haplotypes of TaNAM-A1 were systematically *** varieties with TaNAM-A1d(containing two mutations in the coding DNA sequence of TaNAM-A1)exhibited a longer GLD and superior yield-related traits compared to those with the wild type *** three haplotypes were functional in activating the expression of genes involved in macromolecule degradation and mineral nutrient remobilization,with TaNAM-A1a showing the strongest activity and TaNAM-A1d the ***-A1 also modulated the expression of the senescencerelated transcription factors TaNAC-S-7A and ***016-3A enhanced the transcriptional activation ability of TaNAM-A1a by protein–protein interaction,thereby promoting the senescence *** study offers new insights into the fine-tuning of the leaf functional period and grain yield formation for wheat breeding under various geographical climatic conditions.

关键词： allelic variation leaf senescence map-based cloning TaNAM-A1 transcription factor Triticum aestivum

Fatigue reliability analysis of kiln welded shell

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Engineering Sciences 2010年第4期8卷 52-57页

作者： Li Xuejun shen yiping Dhillon B. S. Hunan Provincial Key Laboratory of Health Maintenance for Mechanical Equipment Hunan University of Science and Technology Xiangtan Hunan 411201 China Department of Mechanical Engineering University of Ottawa Ontario Ottawa K1N6N5 Canada

This paper presents a probabilistic reliability method for the welded shell during crack growth. The crack growth model incorporated with a failure assessment diagram（FAD） , which can provides a better estimation of the critical crack length, is developed to describe fatigue failure. All variables for particular welded joints of the shell are studied. Among them, the stress variables are based on the calculated stress by using the finite element （FE） code ANSYS. Fatigue reliability analysis of the welded shell is performed by using the Monte Carlo simulation method. The failure probability curve of the example kiln is significantly useful to determine the repair schedule of shell cracks.

关键词： fatigue reliability welded shell crack growth FAD Monte Carlo ANSYS

Efficacy and advantages of modified Traditional Chinese Medicine treatments based on"kidney reinforcing"for chronic aplastic ane-mia:a randomized controlled clinical trial

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Journal of Traditional Chinese Medicine 2016年第4期36卷 434-443页

作者： Wu Dijiong shen yiping Ye Baodong Fang Bingmu Lin shengyun Chen Zhilu Jiang Huifang Feng Changwei He Lüyuan Gao Yanting Liu Yonglin Liu Yonghua Zhu Jiajia Wu Liqiang Shao Keding Zhou Yuhong Department of Hematology Zheji-ang Provincial Hospital of Traditional Chinese MedicineHangzhou 310006China Department of Hematology People's Hospital of Lishui CityLishui 323000China Department of Hematology Tongde Hospital of Zhejiang ProvinceHangzhou 310007China Department of Hematology Taizhou Hos-pital of Zhejiang ProvinceTaizhou 318000China Department of Hematology Jinhua Hospital ofTraditional Chinese MedicineJinhua 321017China

OBJECTIVE:To compare the efficacy of modified treatments based on "kidney reinforcing" in the management of chronic aplastic anemia(CAA),and explore their advantages and ***:One hundred and eleven patients with CAA were randomly divided into three groups:kidney reinforcing alone(KA),"kidney reinforcing and Qi tonifying"(KQ),and "kidney reinforcing and blood circulation invigorating"(KC).Normal and positive control groups were also *** patients were treated for 6 months(two courses).Hemograms,Traditional Chinese Medicine(TCM) syndrome scores,and therapeutic effects were assessed,and changes in T-lymphocyte subsets,regulatory T cells and cytokines were ***:The KQ and KC groups had lower TCM syndrome scores than the positive control group after 6 months(P < 0.05).The KQ group had a higher overall efficacy than the positive control group after 3 months(P < 0.05),while platelet counts increased in the KC group after 6 months(P < 0.05).CD3+ T-lymphocyte ratios decreased only in the KQ group,while CD3 + CD4 + CD8-Tlymphocytes increased only in the KC group after 6 months(P <0.05).Levels of interferon-γ,tumor necrosis fac-tor-α,interleukin(IL)-2 and IL-6 decreased and levels of IL-4 and IL-10 increased in all treated groups after 6 *** of IL-6 in the KQ and KC groups were lower than those in the positive control group(P < 0.05).CONCLUSION:Treatments based on kidney reinforcing have a rebalancing effect on cytotoxic and T helper cells,and regulate expression of interferon-γ,IL-2,IL-6 and *** may be more effective in treating CAA,and KC may have an advantage in platelet recovery.

关键词： Anemia,aplastic Reinforcing Qi strengthening kidney Reinforcing kidney nourish ing blood Randomized controlled trial

Life prediction for rolling contact fatigue crack initiation of kiln wheels

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Engineering Sciences 2010年第4期8卷 58-64页

作者： shen yiping Wang Songlai Li Xuejun B. S. Dhillon Hunan Provincial Key Laboratory of Health Maintenance for Mechanical Equipment Hunan University of Science and Technology Xiangtan Hunan 411201 China Department of Mechanical Engineering University of Ottawa Ottawa Ontario K1N6N5 Canada

This paper investigates the rolling contact fatigue of kiln wheels with respect to the axis line deflection, which is linear with the applied supporting loads on wheels. Fatigue crack initiation criteria for elastic shakedown, plastic shakedown and ratcheting material responses are applied to assess wheels responses with two sets of axial line deflection. The finite element simulations are performed by using the bilinear material mode for nonlinear and kinematic hardening in ANSYS 11.0. By comparing the results from different critera, it is showed that the low-cycle fatigue is the predominated failure. Results from different axial line deflections indicate that the optimum adjustment can greatly enhance the whole life of the supporting structure.

关键词： rolling contact fatigue crack initiation finite element simulation axis line deflection shakedown map

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复杂边界几何体的结构网格生成方法

计算机辅助设计与图形学学报 2013年第5期25卷 724-730页

作者：代星崔汉国沈意平罗欣海军工程大学动力工程学院机械工程系武汉430033 华中科技大学数字制造装备与技术国家重点实验室武汉430074

高质量的结构网格能够有效地提高有限元分析的精度.针对受限于结构网格节点分布的特殊要求,使当前的结构网格生成方法无法直接应用于边界复杂的几何体这一问题,提出结构网格生成方法.对于边界复杂的多边形区域,依据边界顶点分类,在计算... 详细信息

高质量的结构网格能够有效地提高有限元分析的精度.针对受限于结构网格节点分布的特殊要求,使当前的结构网格生成方法无法直接应用于边界复杂的几何体这一问题,提出结构网格生成方法.对于边界复杂的多边形区域,依据边界顶点分类,在计算空间内将边界简化为规则形状,在简化的多边形区域内进行分割并填充结构网格,再将其映射回原区域;对于边界特殊的三角形、圆形区域,依据边界节点分布计算分割线,将原区域分割为简单的四边形区域组合,再对各四边形区域分别进行结构网格填充;对于不同区域网格的连接,将区域边界相连并设置棱边方向,通过转化相应的棱边方向矩阵得出棱边方向闭合的多边形边界,在多边形边界内填充结构网格形成不同区域网格间的有效过渡.实例验证结果表明,该方法稳定、高效,能够解决复杂边界几何体的结构网格划分问题.

关键词：有限元分析网格自动划分结构网格网格映射

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大型多支承回转窑筒体系统的动力响应分析

机械强度 2008年第6期30卷 878-883页

作者：沈意平李学军褚福磊湖南科技大学机械设备健康维护省重点实验室湘潭411201 清华大学精密仪器与机械学系北京100084

回转窑运行中筒体、滚圈、托轮及轴承系统耦合成复杂的多支承动力学系统,运行轴线动态变化和冲击突变载荷将给设备带来复杂振动,从而加速疲劳破坏,增加设备故障率。文中采用传递矩阵法,首先建立回转窑筒体系统的动力学模型,再推导各类... 详细信息

回转窑运行中筒体、滚圈、托轮及轴承系统耦合成复杂的多支承动力学系统,运行轴线动态变化和冲击突变载荷将给设备带来复杂振动,从而加速疲劳破坏,增加设备故障率。文中采用传递矩阵法,首先建立回转窑筒体系统的动力学模型,再推导各类激励作用下筒体系统振动的传递矩阵修正响应列阵,最后建立系统的动力响应方程,从而找到计算动载荷和轴线检测动态误差的基本方程。

关键词：多支承回转窑动态轴线传递矩阵响应列阵

Chromosomal Localization of a Quail Homeobox Gene: Quox-1

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Wuhan University Journal of Natural Sciences 1997年第4期2卷 127-128页

作者： Liu Ting Wang Yaping shen yiping Zhang Xiyuan Xue Zhigang

Quox 1 is an Antp like homeobox gene of quail embryo whose expression occurs throughout the developing central nevous system. Using a Dig labeled probe, we localized quox 1 gene on the terminal region of the long... 详细信息

关键词： Quox 1 gene ISH quail localization

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回转窑支承滚圈疲劳寿命与轴线关系及预测

机械工程学报 2006年第10期42卷 65-69页

作者：李学军沈意平褚福磊湖南科技大学机械设备健康维护省重点实验室湘潭411201 清华大学精密仪器与机械学系北京100084

在定量分析回转支承滚圈疲劳状态中引入载荷比概念,用有限元法分析不同载荷比和垂直载荷下滚圈的应力分布规律,推导滚圈最大等效应力和当量应力与载荷比的线性关系式。根据支承载荷与轴线偏差的线性关系式,得出滚圈疲劳损伤和寿命与轴... 详细信息

在定量分析回转支承滚圈疲劳状态中引入载荷比概念,用有限元法分析不同载荷比和垂直载荷下滚圈的应力分布规律,推导滚圈最大等效应力和当量应力与载荷比的线性关系式。根据支承载荷与轴线偏差的线性关系式,得出滚圈疲劳损伤和寿命与轴线偏差的关系。结合现场实例介绍根据检测回转窑的运行轴线,预测滚圈疲劳寿命的方法,为回转窑的合理维护与调整提供理论依据。研究表明,合理地调整回转窑运行轴线能有效提高滚圈的疲劳寿命,并减少滚圈疲劳断裂事故的发生。

关键词：回转窑载荷比轴线偏差疲劳寿命预测