Prenatal diagnosis of Pallister-Killian syndrome and literature review

Pallister-Killian syndrome (PKS) is a rare sporadic genetic disorder usually caused by mosaicism of an extra isochromosome of 12p (i(12p)). This retrospective study analysed the prenatal ultrasound manifestations and molecular and cytogenetic results of five PKS foetuses. Samples of amniotic fluid and/or cord blood, skin biopsy and placenta were collected. Conventional karyotyping and single nucleotide polymorphism array (SNP array) were performed on all the amniotic fluid or cord blood samples. Copy number variants sequencing (CNV-seq) and fluorescence in situ hybridization (FISH) were also used for the validation for one foetus. All the five foetuses were from pregnancies with advanced parental age. Two foetuses involved structural abnormalities and one foetus had only soft markers, all of which included increased nuchal translucency. The rest two foetuses had normal ultrasounds in the second trimester, which has rarely been reported before. The karyotype revealed typical i(12p) in four cases and a small supernumerary marker chromosome consisting of 12p and 20p in the remaining one case. The proportion of cells with i(12p) ranged from 0 to 100% in cultural cells, while SNP array results suggested 2−4 copies of 12p. For one foetus, metaphase FISH showed normal results, but the interphase FISH suggested cell lines with two, three and four copies of 12p in the amniotic fluid. Advanced parental age may be an important risk factor for PKS, and there were no typical ultrasound manifestations related to PKS. A combination of karyotype analysis and molecular diagnosis is an effective method for the diagnosis of PKS.     

大鼠尾壳核衰老变化定量分析：Ⅱ.多巴胺（DA）系统

本实验结果表明:衰老大鼠(26—27月龄)尾壳核多巴胺(DA)神经末梢膨体较成年组(3—4月龄)明显减少,而单个膨体内DA含量较成年组显著增多,提示纹状体DA系统在衰老过程中可能具有一定的代偿机制。本文对其意义进行了讨论。     

垂直绿化生态效益研究综述

全球气候变化和城市化背景下城市生态环境问题越发凸显，面对日趋紧张的土地资源现状，垂直绿化建设成为重要的城市绿地补充手段，对改善城市环境具有重要意义。垂直绿化具有多种生态效益，且其效益发挥受到多因素共同影响。如何统筹协调生态效益和影响因素之间的复杂关系，以使其综合生态效益最大化，是当前垂直绿化建设亟待解决的科学问题之一。基于文献综述法归纳了不同生态效益的机制及其关键影响因素，并对多效益和多影响因素进行了综合分析。结果表明，垂直绿化具有缓解城市热岛、建筑节能减排、固碳、净化空气、降噪、截留雨水和支持生物多样性等七种主要生态效益，并受到植被特征、设施结构特征、气象条件、空间格局等多方面因素的共同影响。基于对效益和影响因素的综合分析，进一步提出了两点规划思路：首先，关注环境需求和效益供给的耦合关系能够更加科学合理地指导区域垂直绿化建设布局。其次，关注生态效益间的关系，以区域关键生态环境问题为导向进行效益权衡并结合考虑其影响因素的重要性程度能为规划设计提供有效建议。     

Fisher information for a multivariate extreme value distribution

Explicit algebraic formulae for the Fisher information matrixof the multivariate extreme value distribution with generalisedextreme value margins and logistic dependence structure aregiven.     

澜沧江梯级开发下鱼类支流生境替代效果

作为干流高坝水电开发导致鱼类生境丧失的一种补偿措施，支流替代生境近年来被广泛应用于受工程影响河段的土著鱼类保护，但替代支流发挥怎样的保护效果及干流对其的影响仍不清楚。以实施了澜沧江梯级生境替代的支流基独河与罗梭江为研究对象，并选择了邻近的对照支流，通过对鱼类调查数据的分析对比，揭示了各支流鱼类种类组成与群落结构的差异特征，初步阐明了梯级开发下鱼类支流生境替代效果以及干流工程建设对其的影响。结果表明：澜沧江支流替代生境对干流鱼类具有明显的保护作用，支流生境修复后鱼类物种丰富度明显提高，罗梭江土著鱼类、特有鱼类物种数分别增加了12种、7种，基独河则是7种、2种，替代生境能为澜沧江土著鱼类、部分濒危特有鱼类和洄游鱼类提供完成生活史的关键栖息地。干流对支流生境替代保护有着重要影响，罗梭江、基独河与邻近干流鱼类群落的Bray-Curtis相似性分别为21.76%、10.73%,支流河口段保持“河相”是支流生境替代保护效果可持续的关键。综合考虑生境替代保护的效益与投入，建议今后开展此类保护措施时优先选择库尾河相区的支流。