Early ultrasound diagnosis of Neu–Laxova syndrome

We report the mid-trimester prenatal diagnosis of Neu–Laxova syndrome (NLS) in two at risk families utilizing serial sonographic examinations. Ultrasound and pathologic findings from seven affected pregnancies, the largest case series of NLS to date, are presented. One fetus had anencephaly and incomplete rachischisis, an anomaly that has not been previously reported in association with NLS. Ultrasonographic detection of severe intrauterine growth restriction (IUGR), abnormally postured limbs, microcephaly, and edema allowed prenatal diagnosis of NLS in five of these at risk pregnancies during the mid-trimester. Growth curves derived from serial sonograms reveal abnormalities of all standard biometric measurements. The growth discrepancy was most pronounced in the measurements of the biparietal diameter, which were consistently less than two standard deviations below the mean across all gestational ages. This case series confirms that aberrant growth and anomalies may be detected sufficiently early in gestation to permit prenatal diagnosis of NLS. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of primary anophthalmia with a 3q27 interstitial deletion involving SOX2

We report an interstitial deletion of chromosome 3q26-q28 in a fetus in which anophthalmia had been detected prenatally. FISH analysis, using BAC clones encompassing the SOX2 locus, showed that SOX2 gene was involved in the chromosomal breakpoint of the deletion. This case confirms that haploinsufficiency for SOX2 plays a crucial role in human eye development and emphasizes the necessity of careful chromosomal analysis, including FISH analysis of the 3q region, in case of prenatal discovery of anophthalmia. Copyright © 2004 John Wiley & Sons, Ltd.     

Water Resource Management in Botswana: Balancing Sustainability and Economic Development*

Botswana is a rapidly developing country in southern Africa. Over the last three decades, diamond mining and tourism have provided double-digit rates of economic growth. Yet most of Botswana’s land is in the Kalahari desert where the climate is subject to sustained periods of severe drought. In this environment, water resources are the most crucial of all environmental resources. Water use directly affects economic development because water utilization impacts all the major national economic sectors. A sustainable water use resource management plan must stretch several decades into the future to assure the availability of adequate supplies of water to future generations while not compromising the ability of the current generation to reasonable rates of economic development. Yet thinking about sustainability is present in Botswana water policy mostly only in rhetoric. A series of cultural traditions and political constraints, coupled with bureaucratic managerial weaknesses, serve to maintain a system of water allocation that is unsustainable in the long run and inefficient in the short-term. Unless sustainable water use patterns are adopted, the results for the short-term, as well as the long-term, will be devastating. Drawing on data obtained through a series of interviews with government officials, leaders of non-governmental organizations (NGOs), and water resource researchers, this paper explores water policy in Botswana within the larger context of sustainable natural resource management practice and the pressures of economic development. This research was partially funded under U.S. Department of State, College and University Affiliations Grant # ASCS-1095.     

基于人地耦合系统的国土空间重塑

地理系统主要研究地球表层人与环境相互作用的机理,强调人地关系、自然和人文要素的综合,即人地耦合系统。地理系统在国土空间中的应用主要由地理决策、地理模拟、地理工程所组成,并且相互作用构成了地理治理。国土空间是自然与人类所共同实践的物质载体,人类被自然所塑造的程度并不亚于自身塑造自然的程度,以人地耦合系统为核心的地理系统理论成为国土空间规划与整治修复的理论基础。基于人地耦合系统的国土空间重塑最终以地理治理的形式反映在人类作用于自然环境的各种活动中。经过改革开放40年的发展,中国国土空间已基本形成了较为稳定的格局,形成了经济区、贫困区、小城镇为主的三种形态空间。中国的城镇化发展与发达国家有所不同,是城市化、城镇化、乡村化“三化耦合”并存的状态。必须重视泛第三极、环中国南海、东北亚—北极等以“一带一路”全球空间为基础的战略区域研究。基于人地耦合系统理论与国土空间价值均衡理论,国土空间重塑的基础科学问题是人地耦合系统演化机理与驱动机制。国土空间规划可以划分为三种类型：发展型规划、控制型规划和修复型规划。国土空间的保护与治理包括以土地利用为核心的国土空间全域整治,以生态文明为核心的国土空间系统修复,以社会和谐为核心的国土空间综合治理。人地耦合系统最终的发展目标是形成人类与自然相互作用的命运共同体。     

农业文化遗产地“三产”融合度评价——以云南红河哈尼稻作梯田系统为例

工业化和城市化过程中,城乡经济差距日益拉大,农村衰落已成为城市化过程中各国面临的共同问题。2015年中央政府提出了“农村一二三产业融合发展”推动农村经济发展的政策,引起了众多学科研究者从不同角度开展研究,但相关研究多以理论探讨为主。农业文化遗产地作为一个以遗产保护为前提的特殊农村地区,如何推动一二三产业（下称“三产”）融合发展,如何量化“三产”融合度,研究尚待深入。基于对农业文化遗产特点、资源特征以及农业文化遗产保护要求等方面的分析,阐释了农业文化遗产地“三产”融合发展的概念和内涵,并构建了由产业融合度与劳动力融合度组成的农业文化遗产地“三产”融合度评价方法体系及具体核算方法。以云南红河哈尼稻作梯田系统十大片区所在的8个乡镇为对象进行评价,结果表明,产业融合度分项指数间越均衡则产业融合度越高;各乡镇分项指数和产业融合度的数值皆很小,有巨大的“三产”融合发展空间;新街镇一二三产业的劳动力融合度领先,其中第三产业贡献率最大;农业文化遗产地“三产”的产业融合与劳动力融合有较高的正相关性（r=0.67）,显著水平在10%以下（P=0.069<0.1）。推动“三产”融合发展可以有效促进农民在本地就业,对于保护农业文化遗产有着重要意义。     

Global Warming and Global Dioxide Emission: An Empirical Study

In this paper, the dynamic relationship between global surface temperature (global warming) and global carbon dioxide emission (CO₂) is modelled and analyzed by causality and spectral analysis in the time domain and frequency domain, respectively. Historical data of global CO₂emission and global surface temperature anomalies over 129 years from 1860–1988 are used in this study. The causal relationship between the two phenomena is first examined using the Sim and Granger causality test in the time domain after the data series are filtered by ARIMA models. The Granger causal relationship is further scrutinized and confirmed by cross-spectral and multichannel spectral analysis in the frequency domain. The evidence found from both analyses proves that there is a positive causal relationship between the two variables. The time domain analysis suggests that Granger causality exists between global surface temperature and global CO₂emission. Further, CO₂emission causes the change in temperature. The conclusions are further confirmed by the frequency domain analysis, which indicates that the increase in CO₂emission causes climate warming because a high coherence exists between the two variables. Furthermore, it is proved that climate changes happen after an increase in CO₂emission, which confirms that the increase in CO₂emission does cause global warming.     

Second-trimester maternal serum alpha-fetoprotein (MSAFP) iselevated in women with adverse pregnancy outcome associated with inherited thrombophilias

Obstetric complications, such as severe pre-eclampsia, fetal growth restriction, abruptio placentae, or stillbirth are associated with abnormally elevated second-trimester maternal serum alpha-fetoprotein (MSAFP) and β subunit of human chorionic gonadotrophin (βhCG). This has been attributed to placental abnormalities. Women with thrombophilias have been shown to have abnormalities of the placenta resulting in adverse pregnancy outcome in these patients. The purpose of the present study was to evaluate whether women with pregnancy complications and inherited thrombophilias have abnormally elevated second-trimester MSAFP or βhCG. Sixty-two women with pregnancy complications were tested for inherited thrombophilias several months after delivery. The thrombophilia group included 29 women with pregnancy complications and an inherited thrombophilia and the control group included 33 other patients without thrombophilia. Patients in the thrombophilia group had a higher median MoM MSAFP compared to the controls (1.337 vs 1.086, p=0.0516). The incidence of abnormally elevated MSAFP (>2.5 MoM) was also significantly higher in the thrombophilia group compared to controls (21% vs 3%, p=0.04). Neither the median MoM βhCG nor the incidence of abnormally elevated βhCG were significantly different between the groups. We conclude that second trimester MSAFP, but not βhCG, is abnormally elevated in patients with thrombophilia and obstetric complications. Copyright © 2001 John Wiley & Sons, Ltd.     

A new report of mesomelic camptomelia,polydactyly and Dandy–Walker complex in siblings

Two male siblings with several malformations are reported. The anomalies detected in both fetuses were mesomelic camptomelia, postaxial hexadactyly and Dandy–Walker complex. There was only one similar previous report in the literature. This combination could represent a specific pattern of malformation or a new syndrome, with different variants. The parents' consanguinity and the recurrence in a subsequent pregnancy suggest an autosomal recessive inheritance pattern. Copyright © 2003 John Wiley & Sons, Ltd.     

21世纪住区建设

面对世界发展趋势和中国建设高潮期,21世纪住宅建设需体现可持续发展,引入信息技术和新材料等高新技术,适应居住生活的发展。本文概述了当前世界发展趋势和国家住宅建设目标,住宅建设面临的科技问题,着重论述21世纪住区建设的规划设计原则。