Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis. Copyright © 2009 John Wiley & Sons, Ltd.     

Investigation of the concentration and isotopic composition of inputs and outputs of Pb in waters at an upland catchment in NE Scotland

As a consequence of the accumulation of anthropogenic Pb in upland catchments, there has been much recent concern about the potential mobilisation and transport of Pb from the soils to receiving waters and also the possible harmful effects that this might have on aquatic biota. This paper presents the findings of a two-year study of Pb behaviour in an organic-rich upland catchment at Glensaugh in NE Scotland. Pb inputs to the catchment were characterised by direct measurements of Pb concentration and (206)Pb/(207)Pb ratios in rain water and interception. Pb outputs from the catchment were calculated from measurements on stream water samples taken from the two main streams, the Cairn Burn and Birnie Burn. The relative contribution of Pb from groundwater and throughflow, under different flow conditions (base flow and high flow), to stream waters was investigated via analysis of springs sourced from groundwater and of waters flowing through the various soil horizons (S (surface), A, B, C, and D), respectively. The outcome of intensive sampling and analysis over the two-year time period was that, even with marked reduction in Pb inputs over the past two decades, the catchment was still acting as a net sink for the current atmospheric deposition. Although the Pb isotopic signature for stream water is very similar to that for the contemporaneous rain water ((206)Pb/(207)Pb approximately 1.15-1.16), only a small portion of the rain water is transferred directly to stream water. Instead, the Pb input is transferred to the stream waters mainly via groundwater and it was also confirmed that the latter had a similar Pb isotopic signature. From the Pb isotopic measurements on throughflow waters, however, Pb being removed via the streams contained some previously deposited Pb, i.e. mobilisation of a small portion of soil-derived anthropogenic Pb was occurring. These findings are important not only with respect to the source/sink status of the catchment but also for calculation of the extent of retention of the current atmospheric Pb inputs, which must take account of the release of previously deposited Pb from the catchment soils, a process occurring mainly under high flow conditions.     

Functional divergence in heat shock response following rapid speciation of Fucus spp. in the Baltic Sea

In the Baltic Sea, the broadly distributed brown alga Fucus vesiculosus coexists in sympatry over part of its range (south west Gulf of Bothnia) with the Baltic endemic F. radicans sp. nov, while further north in colder and lower-salinity areas of the Baltic F. radicans occurs alone (north west Gulf of Bothnia). F. radicans appears to have arisen via rapid speciation from F. vesiculosus within the recent history of the Baltic (ca. 7500 BP). Possible functional divergence between the two species was investigated by comparing stress-responsive gene expression in a common-garden experiment. The experiment used two allopatric populations of Fucus vesiculosus from the Skagerrak (North Sea) and Central Baltic, as well as F. radicans from the same Central Baltic site. The two species in sympatry displayed divergent heat shock responses, while F. vesiculosus populations from allopatric sites did not. F. radicans was more sensitive to heat shock at 25°C, either alone or together with high irradiance and desiccation, than Baltic or Skagerrak F. vesiculosus. The results indicate that rapid functional divergence in the inducible heat shock response has occurred between sympatric species on a timescale of thousands of years.     

The statistical merits of various methods of calculating transfer coefficients between environmental media--development of the ideal formula for data-sets with a log-normal distribution

The statistical treatment of data-sets from environmental pollutant studies in which different measurements are combined to produce averages or comparative factors (e.g., transfer coefficients (TCs), input-output balance values) are considered here, with particular reference to the analysis of data from input-output balance studies of pollutants such as PCBs in animals and humans. Many methods of statistical analysis ignore the fact that all measurements are subject to error, and generally assume that the normal distribution applies to all data-sets, which is commonly inappropriate for environmental (and particularly biological system) data. Considerably different estimations can be obtained by applying different, commonly used, statistical methods, as shown in a simulation study presented here and when applied to data from an input-output balance study of PCBs in humans. Alternative average and combined factor estimators for the treatment of data from these types of studies that give considerable advantages in terms of bias and the ease of assessment of accuracy are proposed.     

Assessing the economics of pre-fragmentation material recovery within the UK

The 2006 end-of-life vehicles (ELVs) directive target for the recycled and reused material content of an ELV has been undertaken using the current recovery infrastructure within the UK. The current expectation is that the conformance for the 2006 recycling target will be mainly achieved using existing post-fragmentation separation technologies rather than manually disassembling vehicles into their constituent materials. With the economic pressure of the current legislative targets weighing heavily on end-of-life stakeholders, and the further increase of recycling levels for 2015, it is important to understand “when” and “if” manual dismantling activities become economically viable within a dramatically changing vehicle recovery industry. This paper describes a method of costing the dismantling of specific makes and models of vehicle due for retirement in 2015, and discusses the economic implications of such practice and possible strategic directions for pre-fragmentation vehicle recovery.     

Sustainable energy investments: contributions of the Global Environment Facility

Addressing energy, economic and environment security is a pressing challenge for nations worldwide. Global energy demand is projected to increase by 45% during the next 20 years, with the fastest growth in developing and transition countries. Over the past two decades, the Global Environment Facility (GEF) has invested in a portfolio of sustainable energy projects with an emphasis on energy efficiency, renewable energy, and urban transport. These projects address many different national priorities including infrastructure, technologies, policies, best practices, institutions, and capacity building. Since 1991, more than US2,735 billion has been invested in energy sector projects with an additional US2,735 billion has been invested in energy sector projects with an additional US17.118 billion in co-financing from governments and the private sector. US1,186 billion, together with US1,186 billion, together with US7,092 billion in co-finance, has been invested in energy efficiency projects that deploy new technologies, develop institutional and human capacity, disseminate best practices, and build public awareness and understanding. GEF renewable energy investments of US1,298 billion, with co-financing of US1,298 billion, with co-financing of US7,555 billion, have advanced demonstration and deployment of solar thermal heating, solar thermal power, photovoltaics, wind power, geothermal energy, small hydropower, biomass, and combined technologies and best practices across 5 continents. The GEF has invested US251 million (with US251 million (with US2,471 billion in co-finance) in urban transport projects that address transport strategies, infrastructure, and mobility technology solutions. These energy efficiency, renewable energy and urban transport projects contributed to the direct reduction of about 1.7 billion tons of greenhouse gas emissions. Other tangible environmental benefits also flowed from these GEF investments. Case studies of representative projects are presented to illustrate lessons learned from the energy efficiency, renewable, energy, and urban transport investments. Experiences from GEF investments can inform development and implementation of future sustainable energy investments.     

The missing pieces for better future predictions in subarctic ecosystems: A Torneträsk case study

Arctic and subarctic ecosystems are experiencing substantial changes in hydrology, vegetation, permafrost conditions, and carbon cycling, in response to climatic change and other anthropogenic drivers, and these changes are likely to continue over this century. The total magnitude of these changes results from multiple interactions among these drivers. Field measurements can address the overall responses to different changing drivers, but are less capable of quantifying the interactions among them. Currently, a comprehensive assessment of the drivers of ecosystem changes, and the magnitude of their direct and indirect impacts on subarctic ecosystems, is missing. The Torneträsk area, in the Swedish subarctic, has an unrivalled history of environmental observation over 100 years, and is one of the most studied sites in the Arctic. In this study, we summarize and rank the drivers of ecosystem change in the Torneträsk area, and propose research priorities identified, by expert assessment, to improve predictions of ecosystem changes. The research priorities identified include understanding impacts on ecosystems brought on by altered frequency and intensity of winter warming events, evapotranspiration rates, rainfall, duration of snow cover and lake-ice, changed soil moisture, and droughts. This case study can help us understand the ongoing ecosystem changes occurring in the Torneträsk area, and contribute to improve predictions of future ecosystem changes at a larger scale. This understanding will provide the basis for the future mitigation and adaptation plans needed in a changing climate.Electronic supplementary materialThe online version of this article (10.1007/s13280-020-01381-1) contains supplementary material, which is available to authorized users.     

Organohalogen chemicals in human blood from the United Kingdom

Blood serum from 154 volunteers at 13 UK locations in 2003 were analysed for a range of PCBs, organochlorine pesticides and PBDEs. HCB, p,p'-DDE and p,p'-DDT and beta-HCH were the dominant organochlorine pesticides in most samples. BDEs 47, 99, 100, 153, 154 and 183 were the most regularly detected PBDEs. This study is the first report of BDE209 in UK human blood (found in 11 samples, range < 15-240 ng/g lipid). Concentration and age correlated for the less easily metabolised PCBs, p,p'-DDT and p,p'-DDE, HCB and HCHs. With increasing age females tended to have lower concentrations of the more chlorinated PCBs than males. Similar PBDE concentrations, and distributions, to those reported in the general population in Sweden in 2002 were found, despite differences in historical PBDE production and usage. There is increasing regulation to control persistent and bioaccumulative chemicals, and establishing human exposure will help to identify substances which should be urgently phased out.     

In-situ application of colloidal activated carbon for PFAS-contaminated soil and groundwater: A Swedish case study

Soil and groundwater contamination by per- and polyfluoroalkyl substances (PFAS) has been a significant concern to human health and environmental quality. Remediation of contaminated sites is crucial to prevent plume expansion but can prove challenging due to the persistent nature of PFAS combined with their high aqueous mobility. In this case study, we investigated the potential of colloidal activated carbon (CAC) for soil stabilization at the pilot scale, aiming to entrap PFAS and prevent their leaching from soil into groundwater. Monitoring of the site revealed the presence of two potential sources of PFAS contamination at concentrations up to 23 μg L⁻¹ for ∑₁₁PFAS in groundwater. After CAC application, initial results indicated a 76% reduction of ∑₁₁PFAS and high removal rates for long-chain PFAS, such as perfluorooctane sulfonic acid and perfluorooctanoic acid. A spike in concentrations was noticed 6 months after injection of CAC, showing a rebound of the plume and a reduction of treatment effectiveness. Based on long-term monitoring data, the treatment effectiveness for ∑₁₁PFAS dropped to 52%. The rebound of concentrations was attributed to the plume bypass of the barrier due to the presence of high conductivity zones, which likely occurred because of seasonal changes in groundwater flow directions or the CAC application at the site. This demonstrates the need for a detailed and accurate hydrogeological understanding of contaminated sites before designing and applying stabilization techniques, especially at sites with high geologic and hydrologic complexity. The results herein can serve as a guideline for treating similar sites and help avoid potential pitfalls of remedial efforts.