Prenatal diagnosis of Myhre syndrome with a heterozygous pathogenic variant in SMAD4 gene presented with thick nuchal translucency and cardiac abnormalities

Prenatal testing was performed in a 39-year-old Chinese pregnant woman referred for increased nuchal translucency measuring 5.7 mm. Non-invasive prenatal testing and SNP array study on amniotic fluid samples were normal. Whole exome sequencing (WES) was initiated further as the fetus had pericardial effusion of 1.2 mm, thickened myocardium over the right ventricular lateral wall and aberrant right subclavian artery. A detailed fetal echocardiogram also revealed persistent left superior vena cava and dilated coronary sinus at 20 weeks. From whole exome sequencing of the trio, a de novo heterozygous variant NM_005359.5(SMAD4): c.1499T>C (p.Ile500Thr) was detected. This pathogenic variant has been reported in the postnatal case cohort of Myhre syndrome. This condition is characterized by facial dysmorphism, intellectual disability, hearing loss, skeletal abnormalities and potential life threatening respiratory or cardiovascular manifestations. Termination of pregnancy was performed at 23 weeks. Small chins, pre-axial polydactyly, brachydactyly and clinodactyly were noted in the abortus. Ultrasound findings of increased nuchal translucency, thickened myocardium and pericardial effusion prompted further genetic evaluation for the prenatal diagnosis of Myhre syndrome by whole exome sequencing.     

Material flow analysis of paper in Korea. Part I. Data calculation model from the flow relationships between paper products

The flows of paper are analyzed throughout the papermaking processes, with the year 2007 and Korea defined as the system boundaries. In practice, the statistical data on the production, import and export of paper or pulp can be collected with relative ease from the government and industrial associations. However, the input data regarding the volumes of pulp and wastepaper used in different paper products, such as newsprint, printing papers, sanitary and household papers, specialty papers, and corrugating board base, are difficult to obtain because such information is generally kept confidential in the course of corporate operations.The production processes of paper products in Korea are modeled using information on raw materials, their compositions and production yields of products in order to identify and quantify the amounts of pulp and wastepaper used in each paper product. The material flows of paper are then analyzed based on the calculation model derived from the correlation of input and output flows between the individual processes throughout the entire paper lifecycle. Accuracy analysis using both mean absolute error (MAE) and mean absolute percent error (MAPE) is conducted to verify the amounts of pulp and wastepaper calculated from the proposed model against the volumes of domestically consumed pulp and wastepaper provided in the national statistics. Although the calculated values for the past (i.e., the 1980s and 1990s) differ to some degree from the statistical values, the data for the 2000s have a relatively higher level of accuracy, with the MAPE of the total pulp and recycling volume at 5.39% and 5.30%, respectively, thus validating the adequacy of the proposed modeling method. The proposed calculation model can be effectively used in the material flow analysis (MFA) of paper to reduce the burden of data collection and obtain relatively accurate results.     

Ashes to ashes,and dust to dust: Is scattering garden the sustainable destination for cremated ashes?

Environmental Science and Pollution Research - Cremation is commonly practiced around the world because it requires small space for the disposal of ashes. Among various options for ash disposal,...     

Interactions of mycorrhizal fungi with Pteris vittata (As hyperaccumulator) in As-contaminated soils

A greenhouse trial was conducted to investigate the role of arbuscular mycorrhizas (AM) in aiding arsenic (As) uptake and tolerance by Pteris vittata (As hyperaccumulator) and Cynodon dactylon (a multi-metal root accumulator). Plants inoculated with lived and killed native mycorrhizas isolated from an As mine site were grown in a sterile and slightly acidic soil. The infectious percentage of mycorrhizas (0 mg/kg As: 26.4%, 50 mg/kg As: 30.3%, 100 mg/kg As: 40.6%) and the average biomass of shoots in infected P. vittata increased (0 mg/kg As: 2.45 g/pot, 50 mg/kg As: 2.48 g/pot, 100 mg/kg As: 10.9 g/pot) according to the increase of As levels when compared to control. The indigenous mycorrhizas enhanced As accumulation (0 mg/kg As: 3.70 mg/kg, 50 mg/kg As: 58.3 mg/kg; 100 mg/kg As: 88.1 mg/kg) in the As mine populations of P. vittata and also sustained its growth by aiding P absorption. For C. dactylon, As was mainly accumulated in mycorrhizal roots and translocation to shoots was inhibited.     

POTENTIAL CLIMATE CHANGE IMPACTS ON MOUNTAIN WATERSHEDS IN THE PACIFIC NORTHWEST1

ABSTRACT: Global climate change due to the buildup of greenhouse gases in the atmosphere has serious potential impacts on water resources in the Pacific Northwest. Climate scenarios produced by general circulation models (GCMs) do not provide enough spatial specificity for studying water resources in mountain watersheds. This study uses dynamical downscaling with a regional climate model (RCM) driven by a GCM to simulate climate change scenarios. The RCM uses a subgrid parameterization of orographic precipitation and land surface cover to simulate surface climate at the spatial scale suitable for the representation of topographic effects over mountainous regions. Numerical experiments have been performed to simulate the present-day climatology and the climate conditions corresponding to a doubling of atmospheric CO₂ concentration. The RCM results indicate an average warming of about 2.5°C, and precipitation generally increases over the Pacific Northwest and decreases over California. These simulations were used to drive a distributed hydrology model of two snow dominated watersheds, the American River and Middle Fork Flathead, in the Pacific Northwest to obtain more detailed estimates of the sensitivity of water resources to climate change. Results show that as more precipitation falls as rain rather than snow in the warmer climate, there is a 60 percent reduction in snowpack and a significant shift in the seasonal pattern of streamflow in the American River. Much less drastic changes are found in the Middle Fork Flathead where snowpack is only reduced by 18 percent and the seasonal pattern of streamflow remains intact. This study shows that the impacts of climate change on water resources are highly region specific. Furthermore, under the specific climate change scenario, the impacts are largely driven by the warming trend rather than the precipitation trend, which is small.     

Understanding the total life cycle cost implications of reusing structural steel

Reuse of structural steel could be an environmentally superior alternative to the current practice, which is to recycle the majority (88%) of scrap steel. In spite of the potential benefits, and in a time when “sustainability” and “climate change” are critical societal issues, the question arises: why are greater rates of structural steel reuse not being observed? One of the major factors in the rate of structural steel reuse is how decision-makers understand the life cycle implications of their choice to recycle steel rather than reuse it. This paper contributes towards our understanding of these implications, particularly the cost implications, of reuse as an alternative to recycling by presenting a streamlined life cycle analysis and identifying the major contributors to each process. The results of a case study indicate that a significant reduction in some life cycle impact metrics (greenhouse gas emissions, water use) can result from reusing structural steel rather than recycling it. The largest contributors to the life cycle impact of recycling were the shredding, melting, and forming sub-processes. The largest contributor to reuse was the deconstruction sub-process. A total life cycle cost analysis is performed to understand the cost of damages to the environment and human health in combination with the cost of construction activities. Sensitivity and uncertainty analyses are also conducted to quantify variability in the results and determine economic conditions where the two processes have an equal cost.     

Water quality guidelines for chemicals: learning lessons to deliver meaningful environmental metrics

Many jurisdictions around the globe have well-developed regulatory frameworks for the derivation and implementation of water quality guidelines (WQGs) or their equivalent (e.g. environmental quality standards, criteria, objectives or limits). However, a great many more still do not have such frameworks and are looking to introduce practical methods to manage chemical exposures in aquatic ecosystems. There is a potential opportunity for learning and sharing of data and information between experts from different jurisdictions in order to deliver efficient and effective methods to manage potential aquatic risks, including the considerable reduction in the need for aquatic toxicity testing and the rapid identification of common challenges. This paper reports the outputs of an international workshop with representatives from 14 countries held in Hong Kong in December 2011. The aim of the workshop and this paper was to identify ‘good practice’ in the development of WQGs to deliver to a range of environmental management goals. However, it is important to broaden this consideration to cover often overlooked facets of implementable WQGs, such as demonstrable field validation (i.e. does the WQG protect what it is supposed to?), fit for purpose of monitoring frameworks (often an on-going cost) and finally how are these monitoring data used to support management decisions in a manner that is transparent and understandable to stakeholders. It is clear that regulators and the regulated community have numerous pressures and constraints on their resources. Therefore, the final section of this paper addresses potential areas of collaboration and harmonisation. Such approaches could deliver a consistent foundation from which to assess potential chemical aquatic risks, including, for example, the adoption of bioavailability-based approaches for metals, whilst reducing administrative and technical burdens in jurisdictions.     

Tissue-based environmental quality benchmarks and standards

Although the use of tissue concentrations (residues) of chemical contaminants as the dose metric to characterize chemical toxicity to aquatic organisms has been gaining acceptance over the past 20 years, tissue concentrations are less commonly used in water quality management and have yet to be formally adopted as benchmarks or environmental quality standards (EQS). This synthesis paper addresses advantages and disadvantages for the development and application of tissue-based EQS as an alternative and supplement to exposure-based EQS determined with water and sediment concentration data. Tissue-based EQS can be readily developed in parallel with conventional toxicity tests, and achieved by quantification of chemical concentrations in tissue alongside traditional concentration-response toxicity testing. Tissue-residue toxicity metrics can be used as benchmarks for screening and monitoring water and sediment quality, to derive equivalent water or sediment EQS, and for ecological risk assessments and weight of evidence approaches for assessing ecosystem impairment. Tissue-based toxicity metrics and associated EQS provide several advantages; however, there are some limitations to consider and key knowledge gaps to fill.     

Arbuscular mycorrhizal fungi enhance both absorption and stabilization of Cd by Alfred stonecrop (Sedum alfredii Hance) and perennial ryegrass (Lolium perenne L.) in a Cd-contaminated acidic soil

A greenhouse pot experiment was conducted to compare the phytoextraction efficiencies of Cd by hyper-accumulating Alfred stonecrop (Sedum alfredii Hance) and fast-growing perennial ryegrass (Lolium perenne L.) from a Cd-contaminated (1.6 mg kg⁻¹) acidic soil, and their responses to the inoculations of two arbuscular mycorrhizal (AM) fungal strains, Glomus caledonium 90036 (Gc) and Glomus mosseae M47V (Gm). Ryegrass and stonecrop were harvested after growing for 9 and 27 wk, respectively. Without AM fungal inoculation, the weekly Cd extraction by stonecrop (8.0 μg pot⁻¹) was 4.3 times higher than that by ryegrass (1.5 μg pot⁻¹). Both Gc and Gm significantly increased (P < 0.05) root mycorrhizal colonization rates, soil acid phosphatase activities, and available P concentrations, and thereby plant P absorptions (except for Gm-inoculated ryegrass), shoot biomasses, and Cd absorptions (except for Gm-inoculated stonecrop), while only Gc-inoculated stonecrop significantly accelerated (P < 0.05) the phytoextraction efficiency of Cd by 78%. In addition, both Gc and Gm significantly decreased (P < 0.05) phytoavailable Cd concentrations by 21–38% via elevating soil pH. The results suggested the potential application of hyper-accumulating Alfred stonecrop associated with AM fungi (notably Gc) for both extraction and stabilization of Cd in the in situ treatment of Cd-contaminated acidic soil.     

广州城市污泥中重金属的含量、排放通量及农用风险评价

分析了广州市中心城区5个主要的污水处理厂污泥的基本理化性质和7种重金属(Cr、Cu、Mn、Ni、Pb、Cd和Zn)在不同雨期的浓度变化,估算了广州市污水处理厂污泥重金属的年排放通量,并对其污泥农用做了潜在风险评价。结果表明,各污水厂污泥均达到《城镇污水处理厂污染物排放标准》(GB 18918-2002)对重金属的排放要求,污泥的基本理化性质满足《城镇污水处理厂污泥处置农用泥质》(CJ/T309-2009)标准,沥滘、猎德、京溪和大坦沙污水厂的污泥重金属满足CJ/T309-2009要求,而西朗污水处理厂2013年12月采集的污泥中Cu和Cd未达标。通过估算,广州市污水处理厂污泥中Cr、Cu、Mn、Ni、Pb、Cd和Zn的年排放通量分别为16.1、18.8、90.3、5.9、7.9、0.2和48.3 t。通过Hakanson生态风险评估,污泥在农用过程中除西朗污水处理厂污泥重金属危害为中等风险,其他厂污泥属于低风险。