Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.     

Chorionic villus sampling—short-term versus long-term culture in a subtle 2; 18 translocation

Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture.     

Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

Prenatal diagnosis of cleft lip and palate by ultrasound

Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross-section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.     

铁路运输安全事故灰色预测方法研究

近年来 ,我国铁路运输发展迅猛 ,尤其是列车运行多次提速 ,列车运行密度加大 ,对铁路运输安全管理不断提出了新的要求。依靠科技进步 ,尽量防止或减少安全事故的发生 ,要应用安全信息技术 ,使安全管理人员对铁路运输安全现状及未来事故发展趋势有所了解 ,提高安全防范意识及事故处理能力 ,同时还要不断提高员工的安全意识和安全文化素质 ,这些方法对于提高安全管理水平 ,降低事故的发生 ,保护人民的生命安全与健康具有重要意义。铁路运输安全事故预测技术就可很好解决上述问题。笔者应用灰色预测理论 ,建立了铁路运输安全事故预测模型 ,开发了安全事故预测软件系统 ,并以某铁路运输企业为例 ,介绍了研制的灰色预测系统软件的应用效果     

中国交通安全技术分析

笔者在分析和比较中、美、日等国道路交通现状、交通安全的发展趋势、已采取相应对策及其实施效果的基础上 ,对我国现阶段交通特点、交通安全的状况、交通安全技术特征以及发展趋势进行了研讨和分析 ,并强调在交通安全管理的总体框架下 ,交通安全技术手段的提高是我国交通安全管理面临的迫切需要解决的问题 ,从而提出只有通过实施分阶段的、递进的安全管理对策和开展长效管理 ,提高交通安全技术 ,建立“点—线—面”的立体控制系统和道路交通安全保障体系 ,才能提高我国交通系统的整体安全性能     

青藏高原多年冻土区铁路路堤变形特征研究

路堤的稳定是公路、铁路等行车安全的保证。路堤变形通过路基—轨道—车辆大系统的相互作用而影响行车安全。冻胀、融沉是多年冻土地区路堤变形的重要形式。多年冻土区的路基变形问题是至今仍未彻底解决的一大难题。青藏铁路穿越 5 5 0km多年冻土区 ,为研究多年冻土区路堤变形特征 ,笔者对青藏铁路某试验段进行变形监测并对监测数据进行分析。结果表明铁路路堤的修建改变了多年冻土原来的水热平衡 ,天然冻土上限的变化导致路堤产生变形。同时 ,变形特征还受路堤边坡的坡向、降水量和地基土类型等因素的制约。在此基础上 ,提出几点减少多年冻土区铁路路堤变形的一些看法和建议。     

在实践中不断提高安全预评价的质量

笔者结合建设项目劳动安全预评价的工作实践 ,分析了安全预评价中存在的主要问题 ,介绍了首都经贸大学劳动安全卫生评价中心在安全预评价工作中的有益探索和成功经验 ,提出了进一步提高安全预评价质量的建议 ,努力寻求一条使安全预评价质量持续改进、不断提高的有效途径。     

铅芯橡胶支座等效线性分析模型参数的研究

针对目前铅芯橡胶支座等效线性分析模型动力参数选取不够合理的现状 ,笔者通过对铅芯橡胶支座水平动态试验分析 ,系统研究了铅芯橡胶支座等效线性分析模型参数与其几何结构及外加动力荷载特性的关系。研究结果表明 :铅芯橡胶支座等效线性分析模型参数 (水平耗能、等效刚度及等效阻尼比 )主要由其本身的几何构造及组成材料决定 ,且在往复加、卸载循环过程中具有较好的稳定性。笔者对试验数据进行数学统计分析 ,归纳出一些经验公式 ,为其等效线性化动力分析模型参数的合理选取提供了计算方法 ,从而提高其动力分析结果的安全性。