Amniotic fluid acetylcholinesterase measurement in the prenatal diagnosis of open neural tube defects. Second report of the collaborative acetylcholinesterase study

Seventeen centres from Australia, Britain, France, and the United States collaborated in a study to compare amniotic fluid acetylcholinesterase (AChE) determination by gel electrophoresis and amniotic fluid alpha-fetoprotein (AFP) measurement as diagnostic tests for open neural tube defects. The study was based on 32 642 women with singleton pregnancies (including 428 with open spina bifida and 238 with anencephaly) who had an amniocentesis at 13–24 weeks' gestation. The AChE test yielded a detection rate for open spina bifida of 99 per cent (95 per cent confidence interval 98–100 per cent), 98 per cent for anencephaly (95 per cent confidence interval 96–100 per cent), and a false-positive rate of 0.34 per cent (95 per cent confidence interval 0.28–0.40 per cent) excluding miscarriages, intrauterine death, and serious fetal abnormalities. The false-positive rate was 0.30 per cent among the 13 centres that used a specific AChE inhibitor in the test. Comparable rates for the AFP test were less favourable. (For example, the open spina bifida detection rate was 90 per cent and the false-positive rate was 0.46 per cent using the cut-off levels specified in the U.K. Collaborative AFP Study.) The AChE false-positive rate was lower in samples that were not bloodstained (0.16 per cent) than in those that were (2.4 per cent). It was higher in women who had an amniocentesis on account of a raised maternal serum AFP level (0.56 per cent) than in those who had one for other reasons (0.29 per cent). The best results were obtained by a combination of the two tests, an effective and economical policy being to perform the AFP measurement on all amniotic fluid samples and an AChE test on samples with AFP levels greater than or equal to 2.0 multiples of the normal median (about 5 per cent of all samples). Using this policy, the open spina bifida detection rate was 96 per cent and the false-positive rate was 0.14 per cent (0.06 per cent for samples that were not bloodstained and 1.2 per cent for those that were; 0.40 per cent for women with raised serum AFP levels and 0.09 per cent for other women). This policy offers a useful improvement to the prenatal diagnosis of open spina bifida.     

Prenatal diagnosis by in situ hybridization on uncultured amniocytes: Reduced sensitivity and potential risk of misdiagnosis in blood-stained samples

Maternal cell contamination was assessed in 18 macroscopically blood-stained amniotic fluid samples from male fetuses. The samples were analysed by double-target fluorescent in situ hybridization (ISH) with Y and X chromosome-specific probes. The only sample with an aberrant karyotype (47, XY, +18) was also analysed by hybridization with a chromosome 18-specific probe. An interpretation of extensive maternal cell contamination was made in two samples, one of which was the sample with trisomy 18. ISH with the chromosome 18-specific probe on this latter sample showed that the sensitivity of the ISH method for chromosome enumeration of uncultured amniotic fluid samples may be reduced in bloodstained samples. It was calculated that by using ISH for chromosome enumeration of the two extensively contaminated samples, a case of trisomy 21 might have been overlooked in both samples, while a case of trisomy 18 might only have been overlooked in one of the samples. It is concluded that ISH should not be used for chromosome enumeration of uncultured amniotic fluid samples that are macroscopically blood-stained without further technical developments.     

Early amniocentesis at 11–14 weeks' gestation for the diagnosis of fetal chromosomal abnormality—a clinical evaluation

Early arnniocentesis between 11 and 14 weeks' gestation was offered to 110 women at risk of a chromosomally abnormal fetus due to maternal age. Four were found to be unsuitable for the procedure, and 106 early amniocenteses were performed. In 102 cases, clear amniotic fluid was obtained with a single tap. There were two dry taps and two bloodstained tapis; sampling was repeated in three of these cases before 15 weeks. In the fourth case, placental biopsy was performed at 16 weeks. Thus, we were able to obtain a satisfactory sample in all but three cases(2.8 percent). Karyotyping of cells harvested from the early amniotic fluid samples was successful in all the 105 cases. Cell culture from the initial samples revealed a normal karyotype in 99 cases, two balanced translocations, two tetraploid karyotypes, and two cases of pseudomosaicism. Of the 105 pregnancies successfully sampled, there have been two losses to date (1–8 per cent). Two further patients presented with premature rupture of membranes, both pregnancies having successful outcomes. Sixty-two babies have delivered to date, with four congenital anomalies. There were no respiratory problems. Twenty-nine pregnancies are continuing without known complications, and details are not yet available on the remaining 12. The results indicate that early arnniocentesis may replace the traditional test at 15–17 weeks.     

Amniotic fluid acetylcholinesterase measurements: Comparing immunochemical and polyacrylamide gel techniques

In the present study, a recently reported immunochemical technique for measuring acetylcholinesterase (AChE) in amniotic fluid utilizing the 4F19 antibody was compared with the widely utilized polyacrylamide gel technique to determine whether the immunochemical assay provided an advantage in separating unaffected pregnancies from those associated with open spina bifida (OSB) and open ventral wall defects (OVWD). The study included (1) 73 amniotic fluid samples from unaffected pregnancies [alpha-fetoprotein (AFP) < 2 MoM] with no visible gel AChE band, (2) nine bloodstained samples from unaffected pregnancies (AFP 2·2–4·0 MoM) with visible gel AChE bands, (3) 18 samples associated with OSB (AFP 2·2–7·0 MoM) with visible gel AChE bands, and (4) 20 samples associated with OVWD (AFP 3·2–53·5 MoM) with visible gel AChE bands. The immunochemical assay produced ranges of measurements in the four respective categories as follows: (1) 2–60 arbitrary units (AU): (2) 14–69 AU, (3) 61–593 AU, and (4)22–476 AU. Eight of the nine unaffected pregnancies with visible gel AChE bands had immunochemical measurements below the highest measurement for the samples with no visible AChE band (60 AU), as did five out of 20 OVWD pregnancies. Two of the OSB cases had values of 61 and 62 AU. These data indicate that the 4F19 specific monoclonal antibody to AChE is capable of distinguishing unaffected from affected pregnancies with reasonable reliability but that more work needs to be done to establish the extent of overlap between the unaffected and affected populations.     

Sustainability issues in sheet metal forming processes: an overview

Environmental sustainability in manufacturing is nowadays an urgent and remarkable issue and the main concerns are related to more efficient use of materials and energy.In sheet metal forming processes there is still a lack of knowledge in this field mainly due to the need of a proper modelling of sustainability issues and factors to be taken into account. The aim of this paper is mainly to underline the state of the art from a forming point of view about the sustainability contributions offered in any phase of a product life cycle. Actually, a lack in terms of comprehensive contributions is present in the technical literature, thus, the authors try to give a sort of holistic vision aimed to provide basic guidelines in order to help in identifying the possible solutions with regard to all the phases of a forming product life cycle. The main attention was paid to sheet metal forming technologies. The paper gives an overview of the main topics concerning sheet metal forming problems related to energy and resource efficiency with the aim to stress the principal contributions which may derive from such processes to environmental performances of manufacturing.     

QUICKScan as a quick and participatory methodology for problem identification and scoping in policy processes

Policy making is required in cases in which a public good needs to be either maintained or created, and private or civil initiatives cannot deal alone with this. Policy making thus starts with a phase of problem identification and determining whether there is a problem that needs to be dealt with. Rapidly evolving contexts exert influence on policy makers who have to take decisions much faster and more accurately than in the past, also facing greater complexity. There is a need for a method that lowers the lead time of the exploratory phase of the policy cycle. At the same time the method should create a joint understanding of the most important interactions. This paper proposes QUICKScan, a method, process and spatially explicit tool, to jointly scope policy problems in a participatory setting, investigate the most important interactions and feedbacks and assesses the state of knowledge and data of relevance to the problem. QUICKScan uses strongly moderated participatory workshops bringing together a wide range of stakeholders relevant to the policy issue. These moderated workshops jointly build an expert system in a spatially explicit tool using functionality of bayesian belief networks, python programming, simple map algebra and knowledge matrices, with a strong focus on visualization of results. QUICKScan has been applied in 70 different applications in a range of different policy contexts, stakeholders and physical locations. Through these applications participants were able to internalize the knowledge that was usually handed to them in briefs and reports, to develop a joint understanding of the main interactions and their link to impacts and to develop a problem statement and solution space in a reduced lead time. Ultimately, QUICKScan demonstrates another role of science, not solely as a knowledge production, but also facilitating the knowledge consumption.     

“The commons” as a dynamic variable in understanding strategic alliances of scale: A groundwater case study in Pajaro Valley,California

Groundwater, a critical resource in many parts of the world, is often characterized as a common pool resource (Brozovic et al., 2006). Multiple individuals utilize groundwater from a basin, and each person has the capacity to reduce the quantity or quality available to others. We turn to a case study of the Pajaro Groundwater Basin in Central California to re-envision the characterization of “commons.” While providing a useful frame from which to analyze groundwater depletion in the Pajaro, we find Common Pool Resource (CPR) theory to be imprecise in its approach to a geographic scale. The notion of the “commons” is central to CPR studies, but there is wide divergence in what the “commons” constitutes, both spatially and socially (Laerhoven and Ostrom, 2007). Rather than propose a normative definition for the “commons,” we suggest that the “commons” as a geographic category is socially constructed and dynamically active over time, akin to the analytic of scale as developed within the fields of political ecology and geography. This move from situating the “commons” as a fixed and discrete geographic area to that which is constantly changing and relational helps us to better understand the ways in which water users collaborate and communicate around shared groundwater sources.     

Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency—misdiagnosis by direct sequence analysis using a PCR product

Molecular diagnostic tests are becoming a routine analysis in many laboratories. These modern analyses are widely used in clinical medicine, forensic, genetic and prenatal diagnosis and also in preimplantation genetic diagnosis. The accuracy of analysis is highly dependent on the success achieved in minimising genotyping errors. The pitfalls in molecular diagnostic tests can be due to a simple technique such as the polymerase chain reaction (PCR) used universally. This technique is routinely used for its apparent accuracy, but it is also a well-known source of errors. We report an error introduced during PCR reaction that leads to a wrong sequence result and consequently to a ‘false’ molecular result in a next prenatal diagnosis in a family with severe factor VII (FVII) deficiency. This error was verified using an unsuitable primer design in a rich repetitive sequence of the FVII gene that leads to a false annealing and then to a wrong molecular diagnosis. It is essential to link closely molecular data with clinical and phenotype analysis in order to avoid false-negative or false-positive results, which is of great importance to diagnosis and molecular prevention. Copyright © 2003 John Wiley & Sons, Ltd.     

土壤中多环芳烃的SPMD辅助解吸行为研究

为了开发一种表征土壤中憎水性有机污染物解吸及生物有效性的新方法,建立了半透膜被动采样装置（SPMD）研究土壤中有机污染物解吸行为的方法,利用SPMD分析了多环芳烃菲、芘和苯并［a］芘在3种不同性质土壤中的辅助解吸行为.结果表明,SPMD是一种很好地表征土壤中憎水性有机污染物解吸及生物有效性的手段. SPMD辅助解吸多环芳烃的效率与土壤有机质及多环芳烃性质有关.随着土壤有机质含量的降低,土壤中菲和芘的SPMD解吸率逐渐升高,对于10 mg/kg染毒水平,当土壤有机质含量由18.68%降低到0.3%时,2种化合物的解吸率分别由56.45%和48.28%上升到接近100%;但是对于苯并［a］芘,粘土表现出明显的滞留能力,在有机质含量（0.3%）很低、粘土含量（39.05%）较高的3号土壤中,苯并［a］芘的解吸率仅有66.97%.不同多环芳烃SPMD辅助解吸率差别很大,随着土壤有机质含量的降低,以及污染物浓度的提高,菲和芘的解吸差异逐渐缩小,而苯并［a］芘与上述2种多环芳烃的差异很大,主要是由于苯并［a］芘具有高度亲脂性,并且分子较大,造成其容易滞留在粘土的微孔及有机质的致密结构中.     

安丘-莒县断裂莒县盆地段晚第四纪以来的活动特征

野外调查研究结果表明,安丘-莒县断裂莒县盆地段是一条晚第四纪以来强烈活动的断层.根据断层走向、活动时代及活动性质的变化,可分为两段.董家坡-武家曲坊段和武家曲坊-太湖段,总长度约30km.从滑动速率的分布来看,董家坡-武家曲坊段全新世早期右旋水平滑动速率为1.83mm/a,垂直滑动速率大约为0.37mm/a;全新世晚期右旋水平滑动速率为0.86mm/a,垂直滑动速率大约为0.17mm/a.武家曲坊-太湖段晚更新世早期断裂右旋水平滑动速率为2.78mm/a,垂直滑动速率为0.65mm/a.全新世晚期右旋水平滑动速率为1.37mm/a.垂直滑动速率为0.18mm/a.上述资料表明,安丘～莒县断裂带盆地段的断裂活动无论是时间上还是空间上都有差异,晚更新世以来断裂的活动性有减弱的趋势,全新世时期断裂的活动北段比南段强.     

A participatory approach to the establishment of a baseline scenario for a reforestation Clean Development Mechanism project

This paper is part of a two-year study to investigate the feasibility of initiating a Clean Development Mechanism (CDM) project in an indigenous community of Eastern Panamá, Ipetí-Emberá. We use participatory mapping and matrices as well as household surveys to develop a land-use/land-cover baseline scenario and examine the role of local participation in assessing land-use change. In Ipetí, land-use change has not occurred in a linear way over the last decades, and our data unveils socio-economic factors as potential key drivers of change. The concordance that we observed between geographic information and individual and collective perceptions of land-use change substantiates the possibility of using local knowledge in the establishment of baseline data for CDM projects. Our calculations suggest that the total carbon (C) stocks in the Tierra Colectiva (TC) of Ipetí-Emberá in 2004 represents a 47% reduction from the estimated C stock at the onset of settlement in the early 1970’s. Results from the participatory assessments predict that, in 2024 and in absence of a CDM project, the C stocks will decline from 301,859 t C in 2004 to 155,730 t C, which constitutes a reduction of 52%. The scenario with CDM estimates C stocks of 305,853 t C for 2024, a value slightly superior to the 2004 value. In the TC there is ground to believe that cattle ranching is likely to become an ever more important activity as the population is young and growing and cannot easily move elsewhere. Forests tend to be cleared for cultivation while pastures are established on short fallows. Our baseline scenario underlines the potential for a CDM project to make a significant difference in the future C stocks of this landscape.     

First-trimester prenatal diagnosis in quintuplets: A practical approach using step-by-step embryo reduction

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.     

Social capital accumulation and the role of the researcher: An example of a transdisciplinary visioning process for the future of agriculture in Europe

Transdisciplinarity is a demanding paradigm, considered by many in the literature as the way to move forward in terms of science and policy integration. In this paper we present the example of a tailored transdisciplinary (TD) process to tackle a key topic of European policy – the future of agriculture at the regional level. This phased process was followed in seven regions across Europe and involved the co-construction of future visions, engaging both researchers and a range of relevant stakeholders. This paper presents results based on a critical reflection made by researchers and stakeholders in Portugal and Scotland, throughout the participatory process. These results provide insights into the roles and responsibilities of researchers and stakeholders in TD processes. One main conclusion is that accumulated social capital can be essential to initiate and maintain a TD process, and requires a commitment between the research community and the surrounding society. Our analysis demonstrates the challenges of implementing a TD process within the temporal frame/boundaries of a research project and the added value of having transdisciplinarity as part of the long term strategy of a research group, not just one part of a specific project. Not acknowledging this may lead to disappointment and fatigue amongst those connecting with researchers. We also found that researchers position themselves differently in a TD process depending on their soft skills, experience and knowledge about transdisciplinarity; hence we call attention to the need to work more explicitly with these skills in the research environment and to present this concept in an early stage of researcher training, if better transdisciplinarity is to be achieved.     

Can community-based governance strengthen citizenship in support of climate change adaptation? Testing insights from Self-Determination Theory

Motivation plays a powerful role in guiding human decision-making and behaviour, including adaptation to climate change. This study aimed to determine whether community-based governance would increase behavioural support, in the form of donation behaviour, for a climate change adaptation trust fund. A sample of 548 Australians was randomly assigned to view one of two governance scenarios: (1) a community-based scenario in which community members were afforded a high level of autonomy in designing and allocating funding within a trust fund to help their community adapt to climate change, or (2) a government-centred scenario in which decision making regarding the trust fund remained with government officials. Path analysis revealed that the community-based scenario produced significantly higher levels of perceived autonomy support within the study’s participants. High levels of perceived autonomy support predicted higher levels of autonomous motivation (indicating stronger citizenship) and lower levels of amotivation, a motivational pattern, which, in turn, predicted greater willingness to donate to the climate change adaptation trust. Results are interpreted in terms of Self-Determination Theory and Motivational Crowding Theory.     

中国北方农牧交错带气候变化特点及未来趋势——基于观测和模拟资料的综合分析

中国北方农牧交错带是中国生态文明建设的一个重点地区。准确评估其气候变化趋势对于该区域可持续发展至关重要。本文的研究目的是在揭示1971-2015年气候变化特征的基础上,分析区域2006-2050年气候变化趋势。为此,本文综合观测和模拟数据分析了区域1971-2015年的历史气候变化以及2006-2050年的未来气候变化。研究发现：1971-2015年,中国北方农牧交错带气候变化呈暖干化趋势,年均气温的增长速率为0.39 ℃/10 a,年降水量的变化速率为-4.60 mm/10 a。2006-2050年,区域气候变化将呈暖湿化趋势,区域总体年均气温的增长速率为0.20~0.50 ℃/10 a,年降水量的变化速率为1.49~15.59 mm/10 a。同时,如果不有效控制温室气体排放,区域气候系统的不稳定性将加剧。2006-2050年,随着温室气体排放浓度的不断增加,区域增温速率从0.25 ℃/10 a增长至0.48 ℃/10 a,降水变化速率从3.97 mm/10 a增长至14.58 mm/10 a。因此,需要高度重视中国北方农牧交错带气候变化的减缓和适应问题,以促进该区域的可持续发展。     

天津地区相对海平面变化最新进展及发展趋势分析

相对海平面上升是一个缓慢、渐进过程,但长期的积累可以使得上升幅度相当可观,从而加剧风暴潮、海岸侵蚀、海水入侵和咸潮等灾害致灾程度。基于验潮位监测和卫星观测结果显示,全球海平面在20世纪中期平均上升1.5~2.0 mm/a,而近30年中国沿海海平面上升速率为2.6~2.7 mm/a,高于全球平均值。渤海湾天津地区由于地面沉降显著,而导致相对海平面大幅度上升。滨海地区地面沉降速率在未来50至100年内可能会稳定在1.0~2.0 cm/a范围,结合目前海平面上升速率2.7 mm/a,总的相对海平面上升速率处于12.7~22.7 mm/a范围。由此估计,到2050年,天津地区相对海平面将比2012年高出48.3~86.3 cm,而到2100年,将比2012年高出111.8~199.8 cm。     

Contexualising the tool development process through a knowledge brokering approach: The case of climate change adaptation and agriculture

This article applies a ‘knowledge brokering’ approach to contextualise the development of an integrated computer modelling tool into the real world policy context of adaptation of agriculture to climate change at the EU level. In particular, the article tests a number of knowledge brokering strategies described and theorised in the literature, but seldom empirically tested. The article finds that while the policy context can be used to identify a theoretically informed knowledge brokering strategy, in practice a strategy's ‘success’ is more informed by practical considerations, such as whether the tool development process is knowledge or demand driven. In addition, in practice the knowledge brokering process is found to be dynamic and messy, which is not always apparent in the literature. The article goes on to question the perception that there is always a need (or a desire) to bridge the gap between researchers and policy makers in the tool development process. Rather than a problem of design and communication, the science policy interface may be characterised more by a high level of competition between researchers and research organisations to have their tool legitimised by its use in the policy making process.     

On the confluence of city living,energy saving behaviours and direct residential energy consumption

The purpose of this study is to shed light on the connection between income, dwelling type, tenure type and city living, in terms of both a household’s energy saving behaviours and direct residential energy consumption. This study employs data from the Household Energy Consumption Survey, Australia. Using a seemingly unrelated regression (SUR) system of equations the results reveal some key mechanisms which may allow householders to realise lower levels of energy consumption and hence lower carbon emissions. The results indicate that there are characteristics unique to living in a city that are linked to higher levels of direct residential energy consumption. On a number of measures (e.g. household income, tenure type and dwelling type), the results point to a lower likelihood of engaging in energy saving behaviours in cities. Also, depending on the number of energy saving behaviours, these actions have the potential to more than offset higher direct residential energy consumption of householders residing in separate houses. Coupled with these findings renters, a more vulnerable social group, are found to be significantly disadvantaged, suffering from a much lower adaptive capacity. Specifically, householders who rent their home are 77% less likely to have solar electricity. A result which may reflect differences in access to opportunity. Further, householders who rent are less likely to engage in energy saving actions. A finding which may reflect difference in ontological security and the greater psychological burden associated with undertaking energy saving behaviours (a barrier) borne by renters not shared with home owners.     

Response to displaced neighbours in a territorial songbird with a large repertoire

Neighbour recognition allows territory owners to modulate their territorial response according to the threat posed by each neighbour and thus to reduce the costs associated with territorial defence. Individual acoustic recognition of neighbours has been shown in numerous bird species, but few of them had a large repertoire. Here, we tested individual vocal recognition in a songbird with a large repertoire, the skylark Alauda arvensis. We first examined the physical basis for recognition in the song, and we then experimentally tested recognition by playing back songs of adjacent neighbours and strangers. Males showed a lower territorial response to adjacent neighbours than to strangers when we broadcast songs from the shared boundary. However, when we broadcast songs from the opposite boundary, males showed a similar response to neighbours and strangers, indicating a spatial categorisation of adjacent neighbours’ songs. Acoustic analyses revealed that males could potentially use the syntactical arrangement of syllables in sequences to identify the songs of their neighbours. Neighbour interactions in skylarks are thus subtle relationships that can be modulated according to the spatial position of each neighbour.     

内蒙古气温变暖停滞对其影响因子变化的响应

采用中心聚类、M-K检验等方法,以内蒙古地区为例,利用全球Pacific Decadal Oscillation（PDO）、Multivariate ENSO Index（MEI）等大空间尺度数据以及内蒙古及其周边70个气象站1951~2016年平均最低气温、平均气温、平均最高气温、风速、大气压等站点数据,定性、定量揭示变暖停滞的变化特征及其对影响因子变化的响应.结果表明：研究区各分区3类气温在1981~1993年间发生升温突变,此后1998~2008年间陆续发生变暖停滞.不同类型气温在不同分区与各影响因子的相关性优劣有所不同,如平均最低气温与AMO、PDO、MEI、太阳总辐射、风速、大气压的相关性最好,平均气温次之,平均最高气温最差;西部区气温与AMO、PDO、MEI、太阳总辐射相关性较好,中部区气温则与AMO、风速相关性较好等.整体上,1990s~2000s,随各分区AMO上升驱缓、PDO处于正位相阶段但呈下降趋势或处于负位相时、MEI值与太阳总辐射下降、风速、大气压、相对湿度的持续下降/上升及之后的趋势转变,各分区气温发生变暖停滞,如当AMO开始整体进入上升趋缓阶段,风速持续减小8~13a,倾向率达到-0.26~-0.11m/（s·10a）时,平均气温发生变暖停滞.平均最低气温对3类影响因子变化的响应最敏感,平均气温次之.气温变暖停滞是多种影响因子共同作用的结果.本研究丰富了该方面研究成果,对气候变化研究及防灾减灾等有一定借鉴意义.