Heterogeneity in fetal akinesia deformation sequence (FADS): autopsy confirmation in three 20–21-week fetuses

Fetal akinesia deformation sequence (FADS) is a rare condition characterized by intrauterine growth retardation (IUGR), congenital limb contractures, pulmonary hypoplasia, hydramnios and craniofacial abnormalities. The present report comprises an autopsy study of three fetuses to illustrate the variable clinical manifestations and neuropathological findings. Fetus 1 had arthrogryposis and no movement on fetal ultrasound examination. Aborted at 21 weeks, the fetus showed micrognathia, bilateral joint contracture with pterygia at the elbow and axilla. Growth retardation and pulmonary hypoplasia were not major features. Neuropathologic examination revealed anterior horn cell loss and lateral corticospinal tract degeneration in spinal cord, with marked muscular atrophy. Fetus 2, 20 weeks' gestation, had fetal akinesia, nuchal thickening, left pleural effusion, and Dandy-Walker malformation on ultrasound examination. Autopsy showed low-set ears, ocular hypertelorism, cleft palate, flexion contractures with pterygia over axilla, elbow and groin, pulmonary hypoplasia, Dandy-Walker malformation, unremarkable spinal cord and skeletal muscle. Fetus 3, 21 weeks' gestation, was aborted for fetal akinesia, neck and limb webbing and severe arthrogryposis. At autopsy, similar facial abnormalities, contracture and pterygia in neck and multiple major joints were found. Borderline pulmonary hypoplasia and severe lumbar scoliosis were also present. The brain, spinal cord and muscle were unremarkable. In these three fetuses, the prenatal ultrasound and autopsy findings were characteristic of FADS. Neurogenic spinal muscular atrophy was the basis of fetal akinesia in Case 1. Dandy-Walker malformation was present in Case 2, but the pathogenetic mechanism of fetal akinesia was not clear as spinal cord and muscle histology appeared normal. The etiology of akinesia was undetermined in Case 3; no extrinsic or intrinsic cause was identified. Copyright © 2002 John Wiley & Sons, Ltd.     

Residual risk for cytogenetic abnormalities after prenatal diagnosis by interphase fluorescence in situ hybridization (FISH)

Results from conventional cytogenetic studies on 21 609 amniotic fluid specimens were analyzed retrospectively to determine the residual risk for a cytogenetic abnormality if interphase FISH, capable of only detecting aneuploidy for chromosomes 13, 18, 21, X and Y, was performed and did not reveal an abnormality. Detection rates (the probability of detecting a cytogenetic abnormality when an abnormality is present) and residual risks (the likelihood of a cytogenetic abnormality, in view of normal interphase FISH results) were calculated for the four major clinical indications for prenatal diagnosis (advanced maternal age, abnormal maternal serum screen indicating increased risk for trisomy 18 or trisomy 21, abnormal maternal serum screen indicating increased risk for neural tube defects and ultrasound abnormality). Differences in detection rates were observed to depend on clinical indication and presence or absence of ultrasound abnormalities. The detection rate ranged from 18.2 to 82.6% depending on the clinical indication. The detection rates of abnormalities significant to the pregnancy being evaluated (i.e. abnormalities excluding familial balanced rearrangements and familial markers) were between 28.6 and 86.4%. The presence of ultrasound abnormalities increased the detection rate from 72.2 to 92.5% for advanced maternal age and from 78.6 to 91.3% for abnormal maternal serum screen, indicating increased risk for trisomy 18 or trisomy 21. With regard to residual risk, the risk for a clinically significant abnormality decreased from 0.9–10.1%, prior to the interphase FISH assay, to a residual risk of 0.6–1.5% following a normal interphase FISH result in the 4 groups studied. Providing patients with detection rates and residual risks, most relevant to their situation (clinical indication and presence or absence of ultrasound abnormality) during counseling, could help them better understand the advantages and limitations of interphase FISH in their prenatal diagnostic evaluation. Copyright © 2003 John Wiley & Sons, Ltd.     

农业灌溉用水经济价值及其影响因素——基于剩余价值法和陕西关中地区农户调研数据

灌溉水经济价值是农业用水定价的重要基础。根据陕西关中地区农户调研数据,采用剩余价值法计算得到小麦、玉米和苹果灌溉水经济价值均值分别为0.66 元/m³、0.84 元/m³、3.17 元/m³。以该结果作为水价调整上限与现状水价比较,小麦和玉米的水价上调空间介于0.24~0.71元/m³,苹果的水价调整空间介于2.72~3.04 元/m³之间。使用分位数模型对影响因素的研究发现：（1）仅在灌溉水经济价值较低时,农户和家庭特征以及土地分散程度有显著影响;（2）在灌溉水经济价值较高时,增强农户节水意识以及加入用水者协会将能有效提升灌溉用水经济价值;（3）粮食转为经济作物、进行农业水价综合改革在所有分位点上均呈显著正向影响。本文可为研究区域农业用水分类定价及改善用水效率提供参考。     

先进冷喷涂技术的应用及展望

首先介绍了冷喷涂技术的原理及特点,在此基础上,重点讨论了冷喷涂技术在不同领域的应用。最后,结合我国冷喷涂技术的发展现状,提出了冷喷涂技术的发展方向,并指出发展先进冷喷涂技术符合我国先进技术的发展需求,有助于提高我国制造业的综合水平。     

海滨核电建造期可剥涂层的临时防护性能研究

目的 考察可剥涂层在海洋大气环境下的大型工程建造中的临时防护作用。方法 对来自两个厂家的可剥涂层进行了为期12周的耐候性试验,对可剥涂层在不锈钢及碳钢/环氧两种基底上的可剥离性、防护性和氟氯残留量进行了测试。结果 两个厂家的涂层在外观、耐蚀性、附着力等方面的试验结果没有明显差异,涂层的剥离强度均低于0.05 kN/m,涂层剥离后不锈钢表面的氟氯离子残留量远低于15 ?g/dm2,试验周期内环氧漆色差变化较小。结论 两个厂家的可剥涂层在光泽、硬度和剥离强度等测试方面的结果上存在差异,但对环氧漆均有着较好的防护作用,试验期内剥离性良好,且无有害化学元素残留,具有较高的工程应用价值。     

气候变化和人类活动对东部沿海地区NDVI变化的影响分析

植被是陆地生态系统的重要组成部分,特别是在人类活动密集地区,良好的植被覆盖对于维持区域生态环境稳定、增进居民生活福祉和促进社会经济可持续发展意义重大.基于归一化植被指数(NDVI)、气温、降水和太阳辐射数据,采用趋势分析、偏相关分析和残差分析等方法,探究了1982～2019年中国东部沿海地区NDVI时空变化特征及其与气候因子的关系,评估了气候因素和人类活动等非气候因素对NDVI变化的影响.结果表明：(1)1982～2019年研究区NDVI变化趋势具有明显区域性、阶段性和季节性差异,就区域平均而言,2000年以前(第一阶段)的生长季NDVI比2001年以后(第二阶段)增加更快,而两阶段春季NDVI增加速率均为各季节最快;(2)同一阶段NDVI与各气候因子的关系在不同季节存在差异,而同一季节NDVI的主要气候控制因子在不同阶段也不一致,并且NDVI与气候因子的关系具有很大空间差异.总体上,1982～2019年研究区生长季NDVI的增加与气温的持续上升关系紧密,第二阶段降水和太阳辐射的增加也产生了积极作用;(3)相比于人类活动等非气候因素的影响,气候变化对近38年来研究区生长季NDVI变化的...     

Al13形态在混凝中的作用机制

从铝的水解形态转化角度考察了铝盐在高碱度和高有机物浓度水体中的混凝行为.结果表明,铝盐的混凝效能是与混凝过程中的Al₁₃含量成正比.高投药量时氯化铝(AlCl₃)既可以有效调节水体pH值又能在混凝过程中原位水解产生较多的Al₁₃形态,因而混凝效能要高于聚合氯化铝(PACl).在铝盐混凝中,调节pH值到6～7之间可以控制铝形态分布从而达到提高混凝效能和减少残留铝的目的.在调节pH值强化混凝的方法中使用传统铝盐的效果要好于无机高分子絮凝剂.     

西安地铁车站深基坑变形规律FLAC模拟研究

开展西安地铁深基坑变形规律理论与监测的研究对指导西北地区深基坑信息化施工具有重要价值。本文以西安地铁2号线某车站深基坑工程为背景,完成了车站深基坑施工监测方案设计,对深基坑施工过程进行了FLAC计算模拟,重点研究了桩体变形、钢支撑轴力、基坑周边地表变形规律。结果表明,复杂环境下城市地铁车站站深基坑明挖施工时,现场监测是信息化安全施工的保证,采用钻孔灌注桩和钢支撑的复合围护方案作为车站深基坑的围护结构是合理的,土方分层开挖方式和钢支撑预应力施加是减少空间效应保证安全施工的重要措施。桩身水平位移特别是桩顶水平位移是围护结构变形特性的直接反映,围护桩变形最大的地方为基坑中部到三分之二基坑深度处。基坑围护结构附近的地面隆起量明显小于基坑中部的隆起量,随着开挖深度增大,隆起量逐渐由基坑中部最大转变为两边大中间小的型式。     

超前支架迈步过程稳定控制方法研究

为提高巷道超前支架迈步前移过程的稳定性和安全性,建立一种基于液压油液体积平均释放原则的迈步稳定控制方法。用软件仿真及样机实测的方法,检验所提出控制方法的控制效果。结果表明,与传统的直线、对数曲线、指数曲线的阀芯位移控制方法相比,应用所建立的方法,设备迈步过程支撑力波动最小,稳定过程耗时最短,为2.2 s,顶板变形量最小,最大值约为4.74 mm。而采用对数曲线控制方式效果最差,稳定过程耗时3.8 s,顶板变形量最大值达到9.48 mm。     

移动式环保公厕车防震抗风安全性研究

移动式环保公厕车工作地点范围广、环境复杂,且没有地基固定,要求其具有特别高的抗地震能力、抗风载变形能力。利用有限元仿真的方法,研究了移动式环保公厕车在不同地震载荷、风力载荷条件下的变形和应力状况,分析了地震载荷和风力载荷对移动式环保公厕车破坏程度和破坏机理,对比了单一载荷作用与复合载荷作用的区别,从而为移动式环保公厕车使用环境的选择、安全检查的合理安排等提供有力的参考依据。