Constitutional 11p15 abnormalities, including heritable imprinting center mutations, cause nonsyndromic Wilms tumor

Constitutional abnormalities at the imprinted 11p15 growth regulatory region cause syndromes characterized by disordered growth, some of which include a risk of Wilms tumor. We explored their possible contribution to nonsyndromic Wilms tumor and identified constitutional 11p15 abnormalities in genomic lymphocyte DNA from 13 of 437 individuals (3%) with sporadic Wilms tumor without features of growth disorders, including 12% of bilateral cases (P = 0.001) and in one familial Wilms tumor pedigree. No abnormality was detected in 220 controls (P = 0.006). Abnormalities identified included H19 DMR epimutations, uniparental disomy 11p15 and H19 DMR imprinting center mutations (one microinsertion and one microdeletion), thus identifying microinsertion as a new class of imprinting center mutation. Our data identify constitutional 11p15 defects as one of the most common known causes of Wilms tumor, provide mechanistic insights into imprinting disruption and reveal clinically important epigenotype-phenotype associations. The impact on clinical management dictates that constitutional 11p15 analysis should be considered in all individuals with Wilms tumor.     

Microring-Assisted Coupling Between Dissimilar Waveguides

The use of microring resonators to assist in the evanescent field coupling between dissimilar waveguides is proposed and analyzed. Theoretical analysis based on the coupled mode theory and nu-merical example show that complete cross power transfers can be obtained near the microring resonances. Applications of the device include power dividers, low-power thermo-optic or electro-optic switches, and modulators.     

给排水工程专家系统（WTPES）不精确推理策略

从知识和证据的不确定性，可信度值的更新及传播等方面进行分析，介绍专家系统不精确推理技术在给排水工程中的应用情况，以ＷＴＰＥＳ软件包为例，介绍知识库结构及不精确推理模型的建立方法。     

彩色多普勒超声在腹壁下动脉穿支选择中的应用

验证彩色多普勒超声对腹壁下动脉穿支血管术前探查的有效性,寻找腹壁下动脉穿支术前优势穿支的选择标准。利用彩色多普勒超声探查腹壁下动脉穿支皮瓣行乳房再造患者52例,重点记录穿支血管穿腹直肌前鞘点的体表投影、口径、血流信息,并通过分析比较以上信息,选择优势穿支。结果52例患者腹壁下动脉穿支穿腹直肌前鞘点于超声下均可显示,平均每侧下腹部3支,距脐平均(5.7±2.09)cm,其中条件适用于显微外科的穿支平均口径(0.95±0.32)cm,血流峰速平均约16.4 cm/s,阻力指数平均0.7。术中优势穿支采用率92.31%。说明高频彩色多普勒超声适用于腹壁下动脉穿支皮瓣术前血管探查,可精确指导穿支的术前选择,辅助手术方案制定以及皮瓣设计。     

Effective Approach to Elevate the Intelligence of Management Decision System

Based on the sticking point of the low intelligence of the existing management decision system, this paper puts forward the idea of enriching and refining the knowledge of the system and endowing it with the ability to learn by means of adopting three types of heterogeneous knowledge representation and knowledge management measures. At length, this paper outlines the basic framework of an intelligence system for the sake of management decision problem.     

Simulation and uniform design-based automatic generation of risk scenarios

This paper presents a methodology for automatically generating risk scenarios for dynamic reliability applications in which some dynamic characteristics(e.g.,the order,timing and magnitude of events,the value of relevant process parameters and initial conditions) have a significant influence on the evolution of the system.The main idea of the methodology is:(i) making the system model "express itself" through simulation by having the model driven by an elaborated simulation engine;(ii) exploiting uniform design to pick out a small subset of representative design points from the space of relevant dynamic characteristics;(iii) for each selected design point,employing a depth-first systematic exploration strategy to cover all possible scenario branches at each branch point.A highly dynamic example adapted from the literature(a chemical batch reactor) is studied to test the effectiveness of the proposed methodology.     

A genome-wide association study identifies susceptibility loci for Wilms tumor

Wilms tumor is the most common renal malignancy of childhood. To identify common variants that confer susceptibility to Wilms tumor, we conducted a genome-wide association study in 757 individuals with Wilms tumor (cases) and 1,879 controls. We evaluated ten SNPs in regions significantly associated at P < 5 × 10(-5) in two independent replication series from the UK (769 cases and 2,814 controls) and the United States (719 cases and 1,037 controls). We identified clear significant associations at 2p24 (rs3755132, P = 1.03 × 10(-14); rs807624, P = 1.32 × 10(-14)) and 11q14 (rs790356, P = 4.25 × 10(-15)). Both regions contain genes that are plausibly related to Wilms tumorigenesis. We also identified candidate association signals at 5q14, 22q12 and Xp22.     

阿姆河右岸某跨境气田增压必要性及优化研究

针对阿姆河右岸某跨境气田井口压力平输压、资源流失、压力分布不均衡、增压投资大、审批难以及地面增压工程基建人员不足等影响产能目标完成的难题，开展了增压开采必要性和增压方案优化工作，研究表明，增压开采势在必行，集中增压、分期建设的增压方案最优：（1） 集中增压将所有压缩机部署在同一增压站内，分期建设既能降低资源流失，亦能缓解基建人员不足的问题；（2） 通过优化产能剖面和安装流程切换装置，增压总需求功率能降至43 MW，压缩机数量和利用率达到最优，实现了投资最小化、效益最大化。该方案已经获得资源国审批，13 台压缩机分两期投产运行，产能建设目标得以顺利完成，有效指导了地面增压工程的有序推进，提高了气田的开发效果。