Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after trans-abdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99·1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2·0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2·3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.     

农场协作以提高可持续发展力

本文表明农场主之间的联合经营体(partnership arrangements)可能是保障农场经济生存能力和提高效益的途径之一.本文讨论了三种不同协作类型的经验分析,并强调了与协作经营关联的环境改善.在第一个案例中,对牛奶场和种植农场的协作进行了分析,结果表明多样化的提高和轮作具有实质的潜在效益,当协作包括机械时,其潜在效益更高.第二个例子论及生猪育崽和精饲管理的外部综合条件.协作利润源于生物因子和技术因子两方面,诸如提高生长率和增加猪舍的利用率等.最后,本文对一组种植农场协作进行了评估,认为效益的增加主要得益于机械费用的减少和/或来自其它因素的收益,如轮作和管理、营销策略等的改善.     

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

北方高纬度地区生态系统动态、生物多样性管理及社会政策

由于受到众多因素大规模作用的影响,高纬度地区生态系统的变化异常活跃.这些地区的生态系统非常脆弱,各种全球变化过程都在影响着可更新林木资源持续生产和当地社会赖以生存的动植物资源丰度.本文对于北半球高纬度地区生态系统的一些新认识及其(所包含的)意义进行了讨论,并对提高生态系统的恢复力所采取的必要管理措施进行了探讨.认为在生态系统面临各种变化和干扰时系统管理的焦点应该从系统的恢复转移到系统功能的维系上来.生物多样性的作用是确保生态系统在经历干扰和重组时能够进行重组和发展,这一作用应该在系统管理与相关的方针政策中得到重视.强调应重新考虑现在的生态保护区的概念以发展一些动态的管理方法,使生态系统在面临环境变化时能够进行可持续的管理.而高纬度地区一些土著人习惯性的生态保护区的特点与那些对保护区进行动态保护的观点往往是一致的.针对高纬度地区动态景观中的生物多样性管理我们提出了新的发展方向,并从非传统的观点方面为其提供了经验例证.这些非传统的观点与看法可能会有助于提高生物多样性可持续管理和生态系统功能发挥的潜力.     

BSE in the UK: Why the Risk Communication Strategy Failed

The 2000 BSE Inquiry report points out that the most serious failure of the UK Government was one of risk communication. This paper argues that the government's failure to communicate the risks BSE posed to humans to a large degree can be traced back to a lack of transparency in the first risk assessment by the Southwood Working Party. This lack of transparency ensured that the working party's risk characterization and recommendations were ambiguous and thus hard to interpret. It also meant that uncertainties were not addressed in a satisfactory way. In the recommendations, the attitude to uncertainty was implicit rather than explicit.The risk communication based on the report amplified these flaws. Most importantly, it did not address the uncertainty at all. Apparently, the reason for this was fear of overreaction by the public. However, the result was counter-productive, because the risk communication did not then appear trustworthy. Later risk assessments and risk communication omitted to correct these flaws. Indeed, the fact that, following receipt of new information, advisory experts and policy makers had changed their views of the risk to humans was never clearly communicated to the public. There seemed to be little faith in the public's ability to reach a balanced judgment regarding the uncertainties.In the concluding section of the paper, this analysis is compared with the food standards agency's (FSA's) approach to BSE. The intervention of this agency was seen as one of the more important efforts to restore consumer confidence in British beef. And the agency certainly appears to be committed to openness and to addressing scientific uncertainty. However, using the risk of BSE in sheep as a case study, the paper shows that transparency – i.e., the clear presentation of factual and normative claims and assumptions underlying advice, and openness about the reasoning based on these claims and assumptions – is less than fully achieved in the FSA's work.     

Landscape trajectory of natural boreal forest loss as an impediment to green infrastructure

Loss of natural forests by forest clearcutting has been identified as a critical conservation challenge worldwide. This study addressed forest fragmentation and loss in the context of the establishment of a functional green infrastructure as a spatiotemporally connected landscape-scale network of habitats enhancing biodiversity, favorable conservation status, and ecosystem services. Through retrospective analysis of satellite images, we assessed a 50- to 60-year spatiotemporal clearcutting impact trajectory on natural and near-natural boreal forests across a sizable and representative region from the Gulf of Bothnia to the Scandinavian Mountain Range in northern Fennoscandia. This period broadly covers the whole forest clearcutting period; thus, our approach and results can be applied to comprehensive impact assessment of industrial forest management. The entire study region covers close to 46,000 km² of forest-dominated landscape in a late phase of transition from a natural or near-natural to a land-use modified state. We found a substantial loss of intact forest, in particular of large, contiguous areas, a spatial polarization of remaining forest on regional scale where the inland has been more severely affected than the mountain and coastal zones, and a pronounced impact on interior forest core areas. Salient results were a decrease in area of the largest intact forest patch from 225,853 to 68,714 ha in the mountain zone and from 257,715 to 38,668 ha in the foothills zone, a decrease from 75% to 38% intact forest in the inland zones, a decrease in largest patch core area (assessed by considering 100-m patch edge disturbance) from 6114 to 351 ha in the coastal zone, and a geographic imbalance in protected forest with an evident predominance in the mountain zone. These results demonstrate profound disturbance of configuration of the natural forest landscape and disrupted connectivity, which challenges the establishment of functional green infrastructure. Our approach supports the identification of forests for expanded protection and conservation-oriented forest landscape restoration.     

Chlorine cycling and the fate of Cl in terrestrial environments

Environmental Science and Pollution Research - Chlorine (Cl) in the terrestrial environment is of interest from multiple perspectives, including the use of chloride as a tracer for water flow and...     

The first direct evidence of a Late Devonian coelacanth fish feeding on conodont animals

We describe the first known occurrence of a Devonian coelacanth specimen from the lower Famennian of the Holy Cross Mountains, Poland, with a conodont element preserved in its digestive tract. A small spiral and phosphatic coprolite (fossil excrement) containing numerous conodont elements and other unrecognized remains was also found in the same deposits. The coprolite is tentatively attributed to the coelacanth. Although it is unclear whether the Late Devonian coelacanth from Poland was an active predator or a scavenger, these finds provide the first direct evidence of feeding on conodont animals by early coelacanth fish, and one of the few evidences of feeding on these animals known to date. It also expands our knowledge about the diet and trophic relations between the Paleozoic marine animals in general.