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.     

气候变化对景观和区域过程的影响及其对气候系统的反馈

北极生态系统的生物和物理过程会在不同的时间、空间尺度上对地球生态系统产生反馈作用,并与之相互影响.气候变化对北极地区的影响及其对全球气候系统的反馈主要存在着四种潜在机制反照率改变、生态系统对温室气体的排放或吸收、甲烷类温室气体的排放、影响海洋暖流淡水量的增长.这些反馈机制在某种程度上是由生态系统的分布和特征,尤其是大规模植被区域变化来控制的.通过少量全年的CO2通量测量表明,目前在地理分布上碳源区要比碳汇区要多.根据目前现有的关于CH4排放源地信息表明,景观规模上的CH4排放量对北极地区的温室效应平衡至关重要.北极地区的能量和水量平衡在变化的气候下,也是一个很重要的反馈机制.植被密度以及分布范围的增加会导致反射率的下降,因而会使地表吸收更多的能量.其效果可能会抵消由于极地沙漠地带向极地苔原带的的转化,或极地苔原带向极地森林带的转化,而造成的植被总净初级生产力碳沉降能力的提高而引起的负反馈.永久冻土带的退化对示踪气体动力学有着很复杂的影响.在不连续的永久冻土带地区,升温将会导致其完全消失.依赖于当地水文条件,温室气体排放可能由于气候环境变的干燥或湿润而使得其通量有所变化.总的来说,影响反馈的各种过程复杂的相互作用,以及这些过程随着时间地点的变化,加之数据的缺乏,又会在陆地生态系统气候变化对气候系统产生反馈作用的净效应估计上,产生许多的不确定性,这种不确定性将会影响到一些反馈的大小和方向.     

The Danish eulerian hemispheric model — a three-dimensional air pollution model used for the arctic

A three-dimensional Eulerian hemispheric air pollution model, the Danish Eulerian Hemispheric Model (DEHM), is in development at the National Environmental Research Institute (NERI). The model has been used to study long-range transport of air pollution in the Northern Hemisphere. The present version of the model includes long-range transport of sulphur dioxide (SO₂) and particulate sulphate (SC₄²⁻. The chemistry in the model is described by a simple linear oxidation of SO₂ to SO₄²⁻, and the wet deposition of SO₂ and SO₄⁻ is estimated based on the amount of precipitation, which is calculated from the contents of liquid cloud water (see Christensen, Air Pollution Modelling and its Applicatioons, Vol. X, pp. 119–127, Vol. XI, pp. 249–256, Plenum press, New York; 1995, Ph.D. thesis, National Environmental Research Institute, Denmark). The model has been used to study the air pollution in the Arctic. Results from yr simulation with an analysis of the results is presented: the model results are verified by comparisons, to measurements not only from the Arctic region but also from Europe and Canada. Some examples of episodes in the Arctic including analysis of the meteorological conditions during the episodes are presented. Finally, the model has been used to estimate the contribution from the different source regions on the northern hemisphere to the Arctic sulphur pollution.     

Effects on the function of Arctic ecosystems in the short- and long-term perspectives

Historically, the function of Arctic ecosystems in terms of cycles of nutrients and carbon has led to low levels of primary production and exchanges of energy, water and greenhouse gases have led to low local and regional cooling. Sequestration of carbon from atmospheric CO2, in extensive, cold organic soils and the high albedo from low, snow-covered vegetation have had impacts on regional climate. However, many aspects of the functioning of Arctic ecosystems are sensitive to changes in climate and its impacts on biodiversity. The current Arctic climate results in slow rates of organic matter decomposition. Arctic ecosystems therefore tend to accumulate organic matter and elements despite low inputs. As a result, soil-available elements like nitrogen and phosphorus are key limitations to increases in carbon fixation and further biomass and organic matter accumulation. Climate warming is expected to increase carbon and element turnover, particularly in soils, which may lead to initial losses of elements but eventual, slow recovery. Individual species and species diversity have clear impacts on element inputs and retention in Arctic ecosystems. Effects of increased CO2 and UV-B on whole ecosystems, on the other hand, are likely to be small although effects on plant tissue chemisty, decomposition and nitrogen fixation may become important in the long-term. Cycling of carbon in trace gas form is mainly as CO2 and CH4. Most carbon loss is in the form of CO2, produced by both plants and soil biota. Carbon emissions as methane from wet and moist tundra ecosystems are about 5% of emissions as CO2 and are responsive to warming in the absence of any other changes. Winter processes and vegetation type also affect CH4 emissions as well as exchanges of energy between biosphere and atmosphere. Arctic ecosystems exhibit the largest seasonal changes in energy exchange of any terrestrial ecosystem because of the large changes in albedo from late winter, when snow reflects most incoming radiation, to summer when the ecosystem absorbs most incoming radiation. Vegetation profoundly influences the water and energy exchange of Arctic ecosystems. Albedo during the period of snow cover declines from tundra to forest tundra to deciduous forest to evergreen forest. Shrubs and trees increase snow depth which in turn increases winter soil temperatures. Future changes in vegetation driven by climate change are therefore, very likely to profoundly alter regional climate.     

Determination of PAH sources in dated sediments from Green Bay, Wisconsin, by a chemical mass balance model

Six sediment cores were collected from Green Bay, Wisconsin, in order to identify possible sources of polycyclic aromatic hydrocarbons (PAHs) by a chemical mass balance (CMB) model. The cores which were obtained in 1995 had total PAH concentrations between 8.04 and 0.460 ppm. 210Pb and 137Cs dating was used to determine historical trends of PAH inputs, and elemental carbon particle analysis was done to characterize particles from combustion of coal, wood and petroleum. The results show that coke burning, highway dust, and wood burning are likely sources of PAHs to Green Bay. The contribution of coke oven emissions (CB) for the Green Bay cores is in the range of 5 to 90%. The overall highway dust (HWY) contribution is between 5 and 70%. There is a maximum (approximately 67%) contribution of HWY around 1988 which is in agreement with the historical US petroleum consumption. The wood burning (WB) contribution is between 1 to 30%, except in core GB-A where a maximum (approximately 50%) is found around 1994. The average relative errors of measurement for x2 equal to the number of degrees of freedom, are 52.5, 56.2, 36.2, 52.3, and 42.8 (df = 3) for the Green Bay cores A, B, C, E, and F, respectively. The sums of the contribution factors are less than one, indicating gain of inert biological or other bulk material between source and receptor. The results of carbon particles for Green Bay core D show that coal, oil, and wood burning are consistent with the CMB modeling results.     

45,X karyotype: May the diagnosis be suspected on ultrasonic examination in the second trimester of pregnancy?

We report three cases of Turner's syndrome with cystic hygromata, which were diagnosed by routine ultrasound scanning before amniocentesis in the second trimester of pregnancy. Maternal and amniotic level of alpha-fetoprotein were normal. Karyotyping carried out afterwards showed a 45,X karyotype. Our data indicate, that cystic hygromata in Turner's syndrome may coexist with a normal amniotic fluid AFP, thus questioning the theory of leakage from the hygroma. It remains to be investigated if all cases of Turner's syndrome present a cystic hygroma in utero.     

基本原理,概念及评估办法

引言 人们普遍认为,全球气候变暖在北极将进一步放大,由于平流层臭氧修复的可能延误,紫外线B(UV-B)辐射可能继续增加,北极环境及其居民可能特别易受这类环境变化的影响.上述共识促进了对气候变化影响的国际评估工作.北极气候影响评估(ACIA)是一项为时4年的研究,结果出版了一篇重要的科研报告[1]并产生了其他的成果.在本文以及本期Ambio专刊下面的文章中,我们提供了报告中针对北极陆地生态系统(从树线群落交错带到极地荒漠)的部分研究成果.     

Differing Modes of Biotic Connectivity within Freshwater Ecosystem Mosaics

We describe a collection of aquatic and wetland habitats in an inland landscape, and their occurrence within a terrestrial matrix, as a “freshwater ecosystem mosaic” (FEM). Aquatic and wetland habitats in any FEM can vary widely, from permanently ponded lakes, to ephemerally ponded wetlands, to groundwater‐fed springs, to flowing rivers and streams. The terrestrial matrix can also vary, including in its influence on flows of energy, materials, and organisms among ecosystems. Biota occurring in a specific region are adapted to the unique opportunities and challenges presented by spatial and temporal patterns of habitat types inherent to each FEM. To persist in any given landscape, most species move to recolonize habitats and maintain mixtures of genetic materials. Species also connect habitats through time if they possess needed morphological, physiological, or behavioral traits to persist in a habitat through periods of unfavorable environmental conditions. By examining key spatial and temporal patterns underlying FEMs, and species‐specific adaptations to these patterns, a better understanding of the structural and functional connectivity of a landscape can be obtained. Fully including aquatic, wetland, and terrestrial habitats in FEMs facilitates adoption of the next generation of individual‐based models that integrate the principles of population, community, and ecosystem ecology.     

Assessing the Impacts of Long-Range Sulfur and Nitrogen Deposition on Arctic and Sub-Arctic Ecosystems

For more than a decade, anthropogenic sulfur (S) and nitrogen (N) deposition has been identified as a key pollutant in the Arctic. In this study new critical loads of acidity (S and N) were estimated for terrestrial ecosystems north of 60° latitude by applying the Simple Mass Balance (SMB) model using two critical chemical criteria (Al/Bc = 1 and ANC_le = 0). Critical loads were exceeded in large areas of northern Europe and the Norilsk region in western Siberia during the 1990s, with the more stringent criterion (ANC_le = 0) showing the larger area of exceedance. However, modeled deposition estimates indicate that mean concentrations of sulfur oxides and total S deposition within the Arctic almost halved between 1990 and 2000. The modeled exceeded area is much reduced when currently agreed emission reductions are applied, and almost disappears under the implementation of maximum technically feasible reductions by 2020. In northern North America there was no exceedance under any of the deposition scenarios applied. Modeled N deposition was less than 5 kg ha⁻¹ y⁻¹ almost across the entire study area for all scenarios; and therefore empirical critical loads for the eutrophying impact of nitrogen are unlikely to be exceeded. The reduction in critical load exceedances is supported by observed improvements in surface water quality, whereas the observed extensive damage of terrestrial vegetation around the mining and smelter complexes in the area is mainly caused by direct impacts of air pollution and metals.