Prenatal diagnosis of spinal muscular atrophy in Russia

Ninety-two families with spinal muscular atrophy (SMA) applied for genetic counselling and further prenatal diagnosis. To minimize expenses, only one tightly linked informative marker was determined in the course of preliminary examination, and non-radioactive allele detection was preferably used. Four prenatal diagnoses of SMA type I, four of SMA type II, and one of SMA type III were made. This trial programme shows the considerable requirements, importance, and potential effectiveness of prenatal prediction of SMA in Russia.     

Neural tube defects in trisomy 18

In a retrospective survey, the incidence of neural tube defects in liveborn trimsomy 18 was found to be 6·2 per cent. Based on these data one would expect to find trisomy 18 in 1 of the 117 patients with myeloidysplasia; the incidence of trisomy 18 in dysraphic fetuses would be anticipated to be higher. These observations underscore the need for amniocentesis karyotyping of fetuses with neural tube defects, and the importance of careful examination of infants born with neural tube defects.     

Technical and theoretical considerations in the HLA typing of amniotic fluid cells for prenatal diagnosis and paternity testing

HLA typing of amniotic fluid cells has been used for the prenatal diagnosis of the HLA linked diseases congenital adrenal hyperplasia (21-OH-deficiency (21-OH-def) type) and complement C4 deficiency and it has also been used for the prenatal de termination of paternity. There are, however, technical difficulties in this test associated with the weak expression of some B locus antigens on amniotic fluid cells, and theoretical difficulties related to associations between particular HLA antigens and the 21-OH-def allele. Since certain HLA-B locus antigens are found in significantly increased frequencies among patients with 21-OH-def, there is a relatively high incidence of HLA-B homozygosity among the patients and over 40 percent of the parents of these patients share one or more HLA-B locus antigens. Results of some prenatal HLA typing tests may thus be difficult to interpret, and supplementary tests should be used whenever possible. HLA typing of amniotic cells is, however, the only available procedure for prenatal diagnosis of C4 deficiency and it is the best available procedure for prenatal determination of paternity. A modification of our original procedure allows HLA typing to be performed with increased numbers of HLA typing sera, and sera with optimum reactivity for amniotic fluid cells have now been selected for the definition of most of the more commonly expressed HLA antigens. Although amniotic fluid cells do not express DR antigens, amniotic fluid cells can be typed for the HLA-linked marker glyoxalase I (GLO) and this may be the informative for prenatal diagnosis in some cases.     

Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

武钢金山店铁矿某通风系统项目评估

介绍了金山店铁矿通风系统多级站和机站设计；阐述了该项目的施工，检测及通风效果评估情况；对安全生产提出了全面，系统的建议。     

小径薄壁管射线透照布置方法

小径薄壁管广泛用于工艺管道中，在对其进行无损探伤时，一般采用双壁双影椭圆成像法和双壁重叠成像法，针对小径薄壁管对接焊缝透照成像的特殊要求，具体介绍双壁双影椭圆成像法的透照布置方法。     

Dynamic Bayesian networks for reliability evaluation of subsea wellhead connector during service life based on Monte Carlo method

The subsea wellhead connector is a critical connection component between subsea Christmas tree and subsea wellhead for preventing the leakage of oil and gas in the subsea production system. Excited by cyclical loadings due to environmental forces and the other support forces, the subsea wellhead connector is prone to the failure, which could lead to the loss of subsea tree or wellhead integrity and even catastrophic accidents. With the Monte Carlo simulation method, this paper presents a reliability analysis approach based on dynamic Bayesian Networks, aiming to assess the failure probability of the subsea wellhead connector during service life. Take the driving ring component of the subsea wellhead connector as an example to demonstrate the reasonability of the proposed model. The generation data is processed by the transform between the numerical value and the state variable. Based on the stress-strength interference theory, the structure reliability of the driving ring with 96.26% is achieved by the proposed model with the consideration the aging of the material strength and the most influential factors are figured out. Meanwhile, the corresponding control measures are proposed effectively reduce the failure risk of the subsea wellhead connector during service life.     

风电场对米波雷达系统的影响研究

目的针对目前风电场对米波雷达的潜在威胁,研究风电场的有源干扰、无源散射、遮蔽对米波雷达系统的影响,为评估风电场对米波雷达系统的影响提供技术指导。方法根据风力发电机的工作原理和结构,对风电场的有源干扰进行实际测试,就风电场有源干扰对米波雷达系统周边背景噪声的影响进行分析,提出一系列应对有源干扰的措施;利用散射、刃峰绕射、多普勒效应等理论,就无源散射、遮蔽等因素对米波雷达系统的影响进行仿真计算和分析。结果风电场将引起米波雷达系统周边背景噪声恶化、虚警率提高、探测距离缩减、测向和测速误差等,导致米波雷达性能下降。结论风电场对米波雷达系统存在着巨大威胁,在米波雷达台站附近规划建设风电场前应进行严格的技术评估,保证国家经济建设和雷达系统性能不受影响。     

机载武器及其双配套设备可靠性鉴定试验方案的分析

通过分析机载武器的使用特点和情况,并结合实验室开展机载武器可靠性鉴定试验的已有经验,对该类装备的可靠性鉴定试验的方案进行了分析和讨论,对试验样件在充足或不足的条件下进行试验的各种试验方案进行了深入分析。指出了各种方案的优缺点,对比了各种试验方案的特点。最后给出了机载武器可靠性鉴定统计试验方案的选取原则。     

带缝金属腔体内包含非线性组件的耦合效应分析

目的对带缝金属腔体内连接非线性组件的系统级耦合效应进行分析。方法在外界电磁激励源的作用下,采用全波混合算法解决腔体内部场强分布问题,并利用高阶FDTD方法求解线缆上的感应电压和电流,得到流入非线性组件的信号,然后建立非线性组件的频域黑箱模型,结合S-参数,得到非线性组件端口的功率响应,最后通过仿真实验验证方法的有效性。结果通过系统耦合效应分析建模,建立仿真模型,得到了非线性组件的响应曲线。结论该系统级的耦合效应分析方法可以分析得到非线性组件作为二端口或多端口时的输出功率响应,对系统级的耦合研究具有重要意义。