Prenatal diagnosis in a family with X-linked hydrocephalus

The neural cell adhesion molecule L1 is a transmembrane glycoprotein belonging to the immunoglobulin superfamily of cell adhesion molecules (CAMs). Its expression is essential during embryonic development of the nervous system and it is involved in cognitive function and memory. Mutations in the L1CAM gene are responsible for four related L1 disorders; X-linked hydrocephalus/HSAS (H ydrocephalus as a result of S tenosis of the A queduct of S ylvius), MASA (M ental retardation, A phasia, S huffling gait, and A dducted thumbs) syndrome, X-linked complicated spastic paraplegia type I (SPG1) and X-linked A genesis of the C orpus C allosum (ACC). These four disorders represent a clinical spectrum that varies both between and within families. The main clinical features of this spectrum are C orpus callosum hypoplasia, mental R etardation, A dducted thumbs, S pastic paraplegia and H ydrocephalus (CRASH syndrome). Since there is no biochemically assayed disease marker, molecular analysis of the L1CAM gene is the only means of confirming a clinical diagnosis. Most L1CAM mutations reported to date are point mutations (missense, nonsense, splice site) and only a few patients with larger rearrangements have been documented. We have characterised a rare intragenic deletion of the L1CAM gene in a sample of DNA extracted from a chorionic villus biopsy (CVB) performed at 12 weeks' gestation. Copyright © 2005 John Wiley & Sons, Ltd.     

A Sediment Budget for an Urbanizing Watershed, 1951‐1996, Montgomery County, Maryland,U.S.A.1

Abstract: Despite widespread interest, few sediment budgets are available to document patterns of erosion and sedimentation in developing watersheds. We assess the sediment budget for the Good Hope Tributary, a small watershed (4.05 km²) in Montgomery County, Maryland, from 1951‐1996. Lacking monitoring data spanning the period of interest, we rely on a variety of indirect and stratigraphic methods. Using regression equations relating sediment yield to construction, we estimated an upland sediment production of 5,700 m³ between 1951 and 1996. Regression equations indicate that channel cross‐sectional area is correlated with the extent of development; these relationships, when combined with historical land use data, suggest that upland sediment yield was augmented by 6,400 m³ produced by enlargement of first‐order and second‐order stream channels. We used dendrochronology to estimate that 4,000 m³ of sediment was stored on the floodplain from 1951‐1996. The sediment yield from the watershed, obtained by summing upstream contributions, totals 8,100 m³ of sediment, or 135 tons/km²/year. These results indicate that upland erosion, channel enlargement, and floodplain storage are all significant components of the sediment budget of our study area, and all three are approximately equal in magnitude. Erosion of “legacy” floodplain sediments originally deposited during poor agricultural practices of the 19th and early 20th Centuries has likely contributed between 0 and 20% of the total sediment yield, indicating that these remobilized deposits are not a dominant component of the sediment yield of our study area.     

中国国土空间规划法律体系：问题检视与框架重构

通过对现行空间规划法律规范的体系性检视,发现由于立法策略、部门立法以及规划立法依附性等原因,其存在顶层立法付之阙如、外部结构冗杂扁平、内部规范碎片冲突等问题。遵循领域法、发展法以及体系化逻辑,国土空间规划立法应以现实问题与治理现代化为导向,在突破部门法壁垒的同时注重法制发展的接续性,力求实现国土空间规划法律体系的形式协调与价值融贯。构建国土空间规划法律体系,对内应确立国土空间规划法的基本法地位并辅之以配套立法,对外应注重与国土空间开发保护法等相关立法、国土空间政策与技术标准的衔接,最终构架起一个主轴明确、层次严密、差序有别的圆锥状国土空间规划法律体系。     

Importance of timely metadata curation to the global surveillance of genetic diversity

Genetic diversity within species represents a fundamental yet underappreciated level of biodiversity. Because genetic diversity can indicate species resilience to changing climate, its measurement is relevant to many national and global conservation policy targets. Many studies produce large amounts of genome-scale genetic diversity data for wild populations, but most (87%) do not include the associated spatial and temporal metadata necessary for them to be reused in monitoring programs or for acknowledging the sovereignty of nations or Indigenous peoples. We undertook a distributed datathon to quantify the availability of these missing metadata and to test the hypothesis that their availability decays with time. We also worked to remediate missing metadata by extracting them from associated published papers, online repositories, and direct communication with authors. Starting with 848 candidate genomic data sets (reduced representation and whole genome) from the International Nucleotide Sequence Database Collaboration, we determined that 561 contained mostly samples from wild populations. We successfully restored spatiotemporal metadata for 78% of these 561 data sets (n = 440 data sets with data on 45,105 individuals from 762 species in 17 phyla). Examining papers and online repositories was much more fruitful than contacting 351 authors, who replied to our email requests 45% of the time. Overall, 23% of our email queries to authors unearthed useful metadata. The probability of retrieving spatiotemporal metadata declined significantly as age of the data set increased. There was a 13.5% yearly decrease in metadata associated with published papers or online repositories and up to a 22% yearly decrease in metadata that were only available from authors. This rapid decay in metadata availability, mirrored in studies of other types of biological data, should motivate swift updates to data-sharing policies and researcher practices to ensure that the valuable context provided by metadata is not lost to conservation science forever.     

玛纳斯河水质参数时空变化规律与趋势分析

干旱区水环境质量的好坏直接决定着绿洲经济建设的水平.通过对玛纳斯河15年来的水质监测资料的分析、研究,从中寻找出该流域的地表及地下水质变化规律与发展趋势.研究结果表明：玛河径流形成区及山前倾斜平原区水质一直保持在一级未受污染级别;山前倾斜平原区地下水中挥发酚以及氮素含量逐年上升,但总体水质仍然保持在一级未受污染级别的范围.     

沿固体木板面火蔓延状况的影像测量方法研究

本文就火在固体木板面蔓延的影像测量方法进行了研究，提出了利用彩色序列影像进行固体木板表面火蔓延状况测量的新方法，通过对垂直木板面和倾斜木板面火蔓延的实际测量试验，验证了该方法的有效性。     

16S rRNA基因技术在环境科学领域中的应用

随着分子生物学的发展，16S rRNA基因技术被逐渐应用到环境科学领域中。目前在环境保护和治理中，该技术主要被用于鉴定污染物的生物降解菌和分析环境样品中的微生物群落多样性，由于它不必将微生物培养分离出来，也就避免了在培养过程中可能出现的微生物去失的情况。本文对16S rRNA基因技术及其在环境科学领域中的应用现状和发展作了一简要介绍，并对16S rRNA基因技术存在的不足进行了讨论。     

水解酸化-UASB-SBR组合法处理印染废水

根据印染废水的特性，提出了水解酸化－UASB－SBR组合法处理的处理方法。该不的实际应用表明，废水CDO用2500－4500mg/L降至80－150mg/L,BOD5，可由600－1000mg/L降至30-40mg/L，色度可由100－600倍降至50－60倍，该法具有以废治废，投资少，运用费用低，操作简单的特点。     

非线性时序法在城市大气污染预测中的应用

建立城市大气污染预测模型是治理城市大气污染的重要工作。在简述时间序列方法基本原理的基础上，分析了系数为变量的自回归滑动平均（ARMA）模型、截断ARMA模型，和残差为自回归综合滑动平均（ARIMA）的半参数方法等城市大气污染预测模型。以法国某城市为例，分别采用AR模型和系数为变量的AR模型对大气污染进行了预测。通过比较预测结果可知，基于非线性时间序列方法的城市大气污染预测模型可以提高预测精度，降低预测误差。     

中国安全经济贡献率的计量分析

安全经济贡献率的准确计算对于指导国家安全投入力度和宏观安全决策起着重要作用。为了准确计算中国安全生产对经济的贡献率,以弥补以往经验取值方法的局限,笔者通过建立计量经济学模型,获得了精确的安全产出与安全投入的函数关系,并得出我国安全生产规模报酬递增的结论。在此基础上又建立时间序列模型,预测出我国2005年的安全经济贡献率为3.01%,安全投入产出比为1.00∶1.81。从预测结果来看,计量模型收到了满意的结果,对国家宏观安全决策具有一定的指导意义。