Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings

Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20–22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C→T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

Denaturing high-performance liquid chromatography (DHPLC)-based prenatal diagnosis for tuberous sclerosis

Tuberous sclerosis (TSC) is a frequent autosomal-dominant condition (affecting 1 in 6000 individuals) caused by various mutations in either the hamartin (TSC1) or the tuberin gene (TSC2). This allelic and non-allelic heterogeneity makes genetic counseling and prenatal diagnosis difficult, especially as a significant proportion of TSC cases are due to de novo mutations. For this reason the identification of the disease causing mutation is mandatory for accurate counseling, yet current mutation detection methods such as single-strand conformation polymorphism (SSCP) or denaturing gradient gel electrophoresis (DGGE) are labor intensive with limited detection efficiency. Denaturing high-performance liquid chromatography (DHPLC) is a high-throughput, semi-automated mutation detection system with a reported mutation detection rate close to 100% for PCR fragments of up to 800 bp. We used a recently described DHPLC assay allowing the efficient detection of mutations in TSC1 to analyze the DNA extracted from a chorion villus sample in order to perform a prenatal diagnosis for TSC. The fetus was found not to have inherited the deleterious mutation and the DHPLC diagnosis was confirmed by haplotype analysis. This represents the first DHPLC-based prenatal diagnosis of a genetic disease. Copyright © 2001 John Wiley & Sons, Ltd.     

单元板式轨道扣件刚度突变对行车安全性的影响分析

为研究单元板式无砟轨道扣件刚度整体及局部突变对行车安全的影响,指导扣件系统的养护维修,利用有限元方法和轮轨耦合系统动力学原理,建立车辆-轨道-路基系统垂向耦合动力学模型。研究扣件系统整体刚度突变和局部刚度突变对列车的振动特性和轮轨垂向作用力的影响规律。结果表明:扣件刚度从20 kN/mm增加到80 kN/mm时,轮对和转向架的振动加速度分别增加40.1%和28.2%,轮轨垂向力增加28.4%,车体变化不大;当局部扣件刚度突变时,车体、轮对、转向架的振动加速度和轮轨垂向力均较基本刚度(50 kN/mm)有所增大。扣件刚度整体突变以及局部突变均会对列车振动特性和轮轨垂向作用力产生不利的影响,建议及时对扣件系统进行养护检修,以保证行车的平稳性和安全性。