Selective feticide of the affected twin by fetoscopic air embolism

Three twin pregnancies, each with one affected fetus (by microcephaly, haemophilia A and spina bifida respectively) were encountered. Selective feticide was performed at the patient's request by injection of filtered air into an umbilical vessel by fetoscopy. The method was successful in all three pregnancies two of which resulted in a live, healthy baby.     

Prenatal interphase FISH diagnosis of PLP1 duplication associated with Pelizaeus–Merzbacher disease

A submicroscopic genomic duplication in Xq22.2 that contains the entire proteolipid protein 1 gene (PLP1) is responsible for the majority of Pelizaeus–Merzbacher disease (PMD) patients. We previously developed an interphase FISH assay to screen for PLP1 duplications in PMD patients using peripheral blood and lymphoblastoid cell lines. This assay has been utilized as a clinical diagnostic test in our cytogenetics laboratory. To expand usage of the interphase FISH assay to prenatal diagnosis of PLP1 duplications, we examined three PMD families with PLP1 duplications utilizing aminiotic fluid samples. In two families the FISH assay revealed fetuses with PLP1 duplications, whereas the other fetus showed a normal copy number of PLP1. Haplotype analyses, as well as an additional FISH analysis using postnatal blood samples, confirmed the results of the prenatal analyses. Our study demonstrates utility of the interphase FISH assay in the prenatal diagnosis of PLP1 duplications in PMD. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal sonographic appearance of Beare-Stevenson cutis gyrata syndrome: two- and three-dimensional ultrasonographic findings

Beare-Stevenson cutis gyrata syndrome is characterized by craniofacial anomalies, particularly craniosynostosis, ear defects, cutis gyrata, acanthosis nigricans, anogenit anomalies, skin tags, and prominent umbilical stump. The prenatal two- and three-dimensional ultrasonographic findings of this rare condition is reported. The detection was made at 32 weeks of gestation in a woman with polyhydramnios and fetal head anomaly. The ultrasound appearance and postnatal follow‒up are presented. Copyright © 2001 John Wiley & Sons, Ltd.     

Trisomy 10: ultrasound features and natural history after first trimester diagnosis

We report on the ultrasound features and natural history of trisomy 10. At 12 weeks' gestation in a routine scan examination, the fetus presented with increased nuchal translucency thickness, mild skin oedema, bilateral pleural effusion, marked micrognathia, cardiomegaly, unilateral talipes and reversed A-wave in the ductus venosus blood flow. Karyotyping on chorionic villus sampling (CVS) led to the diagnosis of trisomy 10, which was confirmed by fetal blood sampling at 22 weeks' gestation. As the parents opted to continue with the pregnancy, the natural history and following ultrasound features are described. This is the third case of trisomy 10 in the literature reporting on the physical features. The most frequent ultrasound findings presented in trisomy 10 are increased nuchal translucency, micrognathia, renal agenesis, facial cleft, limbabnormalities, cardiac defects and early severe growth retardation. Copyright © 2001 John Wiley & Sons, Ltd.     

Analysis of acylcarnitines in maternal urine for prenatal diagnosis of glutaric aciduria type 2

The urinary acylcarnitine profiles of two mothers whose first children were diagnosed to have glutaric aciduria type 2 (multiple acyl-CoA dehydrogenation deficiency, electron transfer flavoprotein (ETF) deficiency) were analysed in the second pregnancy. Large volumes of tigrylcarnitine and isovalerylcarnitine and a little glutarylcarnitine were detected. Each fetus was also diagnosed to be abnormal by enzyme activity and immunoassay of ETF protein. The acylcarnitines in the mothers' urine disappeared in 1 week after labour or artificial abortion. Acylcarnitines were never detected in the urine of controls.     

Cooperatively breeding superb fairy-wrens show no facultative manipulation of offspring sex ratio despite plausible benefits

We report a long-term study of offspring sex ratios in the cooperatively breeding superb fairy-wren Malurus cyaneus. Detailed study of this species had revealed a suite of potentially strong selection pressures on the sex ratio. First, females gain substantial fitness benefits from the presence of helpers; so females without male helpers would benefit from any strategy that increased the probability of recruiting help, such as overproduction of sons (local resource enhancement hypothesis), but large numbers of helper males compete among themselves, favouring the production of daughters (local resource competition). Second, daughters fledged early in the season have far greater chances of recruitment to the breeding population than late-fledged daughters, so mothers would benefit from production of daughters early in the breeding season (early bird hypothesis). Third, extra-group mate choice imposes strong sexual selection on males, suggesting that females mating with attractive sires could benefit from investing in sons (sexual selection hypothesis). However, the predictions from these and other sex ratio hypotheses were rejected. The only convincing evidence for manipulation of the sex ratio was a slight bias towards sons (11 sons to 10 daughters) that occurred regardless of context. This result does not support current theory.     

企业安全生产标准化体系的成长性态诊断

为了诊断企业安全生产标准化体系成长性态,将安全生产标准化内化为企业的安全管理方法,基于过程管理的基本理论,按照行为特性与工作流程,从策划行为域、实施行为域、可信度行为域3个层次界定安全生产标准化的体系结构;其次,从成熟度级别、共同特性和通用活动3个构成要素划分成长性态层次结构;然后,将安全生产标准化的体系结构和成长性态层次标识为企业安全生产标准化水平的二维结构,提出基于模糊区间的安全生产标准化体系成长性态诊断方法.结果表明,调查企业的安全生产标准化体系成长性态诊断结果位于规范级,但存在不平衡问题,在评估与确立安全目标、安全培训、细化安全目标要求、交底与配备资源和可信度论据等方面诊断值较低,需要加以改进.     

基于iLME+Geoi-RF模型的四川省PM2.5浓度估算

高分辨率PM2.5空间分布数据对动态监测和控制PM2.5污染具有重要意义.选取Himawari-8气溶胶光学厚度(AOD)、ERA5气象再分析资料、DEM、土地利用数据、夜光遥感数据、增强型植被指数和人口数据等作为估算变量,使用改进的重采样法进行数据匹配,并提出改进的线性混合模型(iLME)结合地理智能随机森林(Geoi-RF)构建组合模型估算PM2.5浓度.结果表明:①在选取的估算变量中,气溶胶光学厚度、气压、温度、相对湿度和边界层高度是影响2016年四川省PM2.5浓度的重要因素,其相关系数分别为0.65、0.58、0.55、0.54和0.35.②iLME+Geoi-RF模型精度相较其他模型有较大提升,模型拟合Rl2、RMSR 和 MAE 分别为0.98、3.25 μg·m-3和 1.98 μg·m-3,交叉验证 R2、RMSR 和 MAE 分别为0.89、7.95 μg·m-3和4.81μg·m-3.该模型可获取更高精度的四川省PM2.5时空分布特征,为区域空气质量评估、人体暴露风险评价和环境污染治理提供更加合理地科学参考.③2016年四川省PM2.5浓度存在显著的季节性差异,各季节PM2.5浓度大小关系为:冬季＞秋季＞春季＞夏季.2016年四川省月均PM2.5浓度总体上呈先降后升的"V"型趋势,最小值在6月,最大值在12月,8月和11月有微小起伏.在空间分布上四川省PM2.5浓度总体上呈东高西低和局部污染程度较高的特点,高值区主要分布在城市快速发展和人口密集的东部地区,低值区主要分布在经济发展落后和人口稀疏的西部地区.④虽然不同模型估算出的PM2.5浓度整体分布基本一致,但iLME+Geoi-RF模型能更准确有效地估算本研究区污染的空间分布.     

一种应用于不均衡小样本集的石化设备故障智能诊断方法

针对实际生产中,石化设备故障呈现出“不均衡小样本”特性,致使传统诊断模型适用性不足,准确率低下这一问题,基于一类支持向量机(One-Class SVM)和遗传算法优化的支持向量机(GA-SVM),提出一种分步诊断策略。利用One-Class SVM构建超球诊断模型,可在没有任何故障先例的前提下实现异常状态辨识和未知故障甄别,提升算法对不均衡监测数据(正常样本数量远超故障样本数量)的适用性;利用GA-SVM,针对小样本故障数据集构建并优化智能诊断模型,判别故障模式,降低算法对大量有标签故障样本的依赖。故障诊断实验结果表明,该方法能够在不均衡小样本场景中显著降低漏报率、误报率和误诊率,对实验数据和工程数据的诊断准确率分别达99%和100%。     

基于人工免疫算法的离散隐马尔科夫故障诊断模型优化

目的解决离散隐马尔科夫模型在行星齿轮箱故障诊断中的自适应性和泛化性问题。方法建立人工免疫优化模型,将包含易被误判样本的多样本集作为抗原,以其正确识别率为适应度函数,不断对初始观测矩阵进行增殖、变异和选择,获得识别率最高时的初始观测矩阵,利用人工免疫算法对隐马尔科夫故障诊断模型的初始观测矩阵进行优化。结果将该方法应用于行星齿轮箱的故障诊断中,通过不同工况下的对比试验、单样本和多样本优化对比试验,验证了优化后的隐马尔科夫故障诊断模型的诊断效果。结论优化后的隐马尔科夫故障诊断模型具有更好的适应性,诊断精度显著提高。