Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency—misdiagnosis by direct sequence analysis using a PCR product

Molecular diagnostic tests are becoming a routine analysis in many laboratories. These modern analyses are widely used in clinical medicine, forensic, genetic and prenatal diagnosis and also in preimplantation genetic diagnosis. The accuracy of analysis is highly dependent on the success achieved in minimising genotyping errors. The pitfalls in molecular diagnostic tests can be due to a simple technique such as the polymerase chain reaction (PCR) used universally. This technique is routinely used for its apparent accuracy, but it is also a well-known source of errors. We report an error introduced during PCR reaction that leads to a wrong sequence result and consequently to a ‘false’ molecular result in a next prenatal diagnosis in a family with severe factor VII (FVII) deficiency. This error was verified using an unsuitable primer design in a rich repetitive sequence of the FVII gene that leads to a false annealing and then to a wrong molecular diagnosis. It is essential to link closely molecular data with clinical and phenotype analysis in order to avoid false-negative or false-positive results, which is of great importance to diagnosis and molecular prevention. Copyright © 2003 John Wiley & Sons, Ltd.     

基于SOM-SVM组合分类器的涂层防护性能研究

目的为避免EIS,EN技术可能出现的问题,建立一个准确、高效的评价模型,以探究现役军用有机涂层防护性能。方法利用电化学阻抗谱(EIS)、电化学噪声(EN)技术分析了两种军车有机涂层在循环暴露试验中的腐蚀行为,提取低频阻抗模值|Z|_(0.1 Hz)与涂层噪声电阻R_n两种电化学评价参数作为自组织神经网络(SOM)的输入训练样本,同时结合支持向量机(SVM)方法建立涂层防护性能组合分类器。结果将涂层失效过程自适应地分为涂层防护性能良好、防护性能下降、基本失效三个阶段。结论所建立的SOM-SVM组合分类器对于辅助分析涂层防护性能具有可行性。     

矢量毫米波系统中非线性补偿技术研究

目的针对矢量毫米波系统中因传输链路和光电转换带来的非线性问题,提出一个基于维特拉级数的非线性均衡方案。方法首先给出该方案的基本原理,然后搭建一个射频载波频率为40 GHz、传输信号为5Gbaud 16QAM的矢量毫米波仿真系统,分析基于维特拉级数的非线性模型各阶非线性项的贡献,并比较在不同传输距离情况下,该方案相对于仅采用线性均衡方案对系统性能的提升。结果在传输距离为10 km时,该方案能够将平台误码率降低到10~(-3)以下。结论该方案明显提升了系统的性能。     

A Variance Estimator for Constrained Estimates of Change in Relative Categorical Frequencies

Consistent estimators of change and state becomes an issue when sample data come from a mix of permanent and temporary observation units. A joint maximum likelihood estimator of state and change creates estimates of state that depend on antecedent viz. posterior survey results and may differ from estimates of state derived from a single-date analysis of the sample data. A constrained estimator of change in relative categorical frequencies that eliminates this potential inconsistency is proposed and a model based estimator of their sampling variance is developed. The performance of the constrained estimator is quantified against six criteria and a joint maximum likelihood estimator in simulated sampling from 15 populations with three combinations of permanent and temporary samples, four to six categorical class attributes, and constant size between sampling dates. Bias of the constrained estimators was negligible but larger than for joint maximum likelihood estimators. Mean absolute deviations and variances of constrained estimators were generally at par with the joint estimators. Constrained estimators of root mean square errors and achieved coverage of nominal confidence intervals of constrained estimators were occasionally better. A generalized variance function for the constrained estimates of change is provided as a computational shortcut.     

Comparison of Two Manual Methods of Nitrogen Dioxide Determination in Ambient Air

Sodium arsenite (modified Jacobs and Hochheiser method; hereafter referred as SA), the most widely used manual monitoring method for determination of nitrogen dioxide (NO₂) in ambient air, particularly in developing countries has been evaluated and compared with US EPA recommended equivalent method of TGS-ANSA (hereafter referred as ANSA). NO₂ concentrations generated from laboratory test atmosphere were analyzed by these two methods and were compared statistically. Laboratory evaluations showed that SA method has high sensitivity to different sampling conditions, which normally vary during actual field monitoring. Hence, correction factors for absorption efficiency were estimated for SA and ANSA methods. Absorption efficiency of NO₂ in SA method was found to be much lower (64%) as against the reported value of 82% at the method recommended sampling conditions, whereas for ANSA method, it was found 1.0 as against the reported value of 0.93. After applying derived correction factors, both the methods produced almost similar concentration values of NO₂.     

对大气采样误差的理论研究

环境监测数据是环境保护工作的基础,监测仪器设备的精良及监测方法的科学性则是获得优质数据的保障工具.本文运用数学方法对目前广泛使用的采样仪器进行了采样误差的分析研究,指出了改善仪器和改善监测方法去获取更精确数据的途径.     

CODMn重新稀释取样体积的推定

对原CODMn法测地表水二次取样体积进行了推导，建立了实际适用取样体积公式，具有一定的适用性。     

环境科学研究中两变量非线性相关时的线性回归方程

以环境科学研究两变量非线性相关的问题为对象，讨论建立线性回归方程的方法。有绝对误差均方和最小的最小二乘法、相对误差最小的新回归法。以简易的方法，建立相关性好、误差小的回归方程。介绍了两变量各种非线性相关时的线性回归方程在环境科学研究中的应用。     

碱性闪石类质同象的向量空间

用结构分析法确定闪石中阳离子的占位已为人们所熟知，本文采用44个碱性闪石的化学分析数据，通过逐步回归分析，从统计学的角度来分析碱性闪石各晶位中阳离子占位率之间的相关性，从而进一步探讨其类质同象的规律，分析表明：碱性问石中作为独立变量的阳离子并非如通常认为的多而杂，如果把碱性闪石类质同象看成一个随机线性向量，则其空间的维数很可能小于10，上述理论计算同时还表明：1．有可能直接用化学分析结果按概率方法对闪石进行定名；2.有可能选择X射线粉末图大于10条特征峰的强度作统计分析来估算闪石中阳离子的占位率。     

常压塔塔顶腐蚀关键参量相关性分析与预测

预测常压塔顶回流罐切水的关键离子浓度可以为常压塔顶系统工艺防腐提供技术指导。收集了某炼厂2014-2016年常压装置的生产实时工艺参数、原料及产品采样数据、水质分析化验参数,采用线性插值方法对不同时间尺度的数据进行补全。通过线性相关性分析获得了影响常压塔顶回流罐切水总铁离子浓度、pH的主要因素,并基于深度学习、支持向量机回归、粒子群优化方法建立了腐蚀关键参量预测模型。结果表明,pH值和总铁离子浓度的相关因素大部分重叠,与原料性质及产品馏出温度较强相关;建立的回归模型预测精度高,在训练集和预测集上,总铁离子浓度预测值与测量值最大偏差分别为4. 4%和9. 8%,pH值预测值与测量值最大偏差分别为0. 9%和1. 1%。