Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Optimisation of a PMAxx™-RT-qPCR Assay and the Preceding Extraction Method to Selectively Detect Infectious Murine Norovirus Particles in Mussels

Human noroviruses are a major cause for gastroenteritis outbreaks. Filter-feeding bivalve molluscs, which accumulate noroviruses in their digestive tissues, are a typical vector for human infection. RT-qPCR, the established method for human norovirus detection in food, does not allow discrimination between infectious and non-infectious viruses and can overestimate potentially infectious viral loads. To develop a more accurate method of infectious norovirus load estimation, we combined intercalating agent propidium monoazide (PMAxx™)-pre-treatment with RT-qPCR assay using in vitro-cultivable murine norovirus. Three primer sets targeting different genome regions and diverse amplicon sizes were used to compare one-step amplification of a short genome fragment to three two-step long-range RT-qPCRs (7 kbp, 3.6 kbp and 2.3 kbp amplicons). Following initial assays performed on untreated infectious, heat-, or ultraviolet-inactivated murine noroviruses in PBS suspension, PMAxx™ RT-qPCRs were implemented to detect murine noroviruses subsequent to their extraction from mussel digestive tissues; virus extraction via anionic polymer-coated magnetic beads was compared with the proteinase K-dependent ISO norm. The long-range RT-qPCR process detecting fragments of more than 2.3 kbp allowed accurate estimation of the infectivity of UV-damaged murine noroviruses. While proteinase K extraction limited later estimation of PMAxx™ pre-treatment effects and was found to be unsuited to the assay, magnetic bead-captured murine noroviruses retained their infectivity. Genome copies of heat-inactivated murine noroviruses differed by 2.3 log₁₀ between RT-qPCR and PMAxx™-RT-qPCR analysis in bivalve molluscs, the PMAxx™ pre-treatment allowing a closer approximation of infectious titres. The combination of bead-based virus extraction and PMAxx™ RT-qPCR thus provides a more accurate model for the estimation of noroviral bivalve mollusc contamination than the conjunction of proteinase K extraction and RT-qPCR and has the potential (once validated utilising infectious human norovirus) to provide an added measure of security to food safety authorities in the hazard assessment of potential bivalve mollusc contamination.

     

Application of CGP-cross route process for microstructure refinement and mechanical properties improvement in steel sheets

A modified method of severe plastic deformation (SPD) entitled constrained groove pressing-cross route (CGP-CR) was introduced for imposing a high magnitude of equivalent strain of about 2.32 per pass on the sheet form samples. The major benefit of this improved route compared to previous common route was the more homogeneity of strain in the rolling (RD) and transverse (TD) directions of sheets. In this study, low carbon steel samples were used for examination of evolutions in microstructure and mechanical properties during SPD via CGP-CR process. Mechanical properties improvement were measured by tensile and macro hardness tests. The results indicate that CGP-CR process can effectively improve tensile strength; and also, yield stress and hardness of as-received low carbon steel samples were improved up to about 100% after two deformation passes. Also, high magnitude of inhomogeneity can be observed in hardness distribution through first pass of the process which diminishes in the subsequent passes. Microstructural evolutions during process were monitored by optical microscopy observations and X-ray diffraction analysis. The results demonstrate that initial ferritic microstructure with grain size of about 30 μm was refined to a 225 nm cell structure after two passes of CGP-CR process.     

Characteristics and recent trends of sulfur dioxide at urban, rural, and background sites in North China: Effectiveness of control measures

SO₂ measurements made in recent years at sites in Beijing and its surrounding areas are performed to study the variations and trends of surface SO₂ at different types of sites in Northern China. The overall average concentrations of SO₂ are (16.8 ± 13.1) ppb, (14.8 ± 9.4) ppb, and (7.5 ± 4.0) ppb at China Meteorological Administration (CMA, Beijing urban area), Gucheng (GCH, relatively polluted rural area, 110 km to the southwest of Beijing urban area), and Shangdianzi (SDZ, clean background area, 100 km to the northeast of Beijing urban area), respectively. The SO₂ levels in winter (heating season) are 4-6 folds higher than those in summer. There are highly significant correlations among the daily means of SO₂ at different sites, indicating regional characteristics of SO₂ pollution. Diurnal patterns of surface SO₂ at all sites have a common feature with a daytime peak, which is probably caused by the downward mixing and/or the advection transport of SO₂-richer air over the North China Plain. The concentrations of SO₂ at CMA and GCH show highly significant downward trends (-4.4 ppb/yr for CMA and -2.4 ppb/yr for GCH), while a less significant trend (-0.3 ppb/yr) is identified in the data from SDZ, reflecting the character of SDZ as a regional atmospheric background site in North China. The SO₂ concentrations of all three sites show a significant decrease from period before to after the control measures for the 2008 Olympic Games, suggesting that the SO₂ pollution control has long-term effectiveness and benefits. In the post-Olympics period, the mean concentrations of SO₂ at CMA, GCH, and SDZ are (14.3 ± 11.0) ppb, (12.1 ± 7.7) ppb, and (7.5 ± 4.0) ppb, respectively, with reductions of 26%, 36%, and 13%, respectively, compared to the levels before. Detailed analysis shows that the differences of temperature, relative humidity, wind speed, and wind direction were not the dominant factors for the significant differences of SO₂ between the pre-Olympics and post-Olympics periods. By extracting the data being more representative of local or regional characteristics, a reduction of up to 40% for SO₂ in polluted areas and a reduction of 20% for regional SO₂ are obtained for the effect of control measures implemented for the Olympic Games.     

Management strategies to mitigate the impacts of climate change on sea turtle’s terrestrial reproductive phase

Climate change poses a serious threat to sea turtles (Cheloniidae) as their terrestrial reproductive phase is only successful within a limited range of environmental and physical conditions. These conditions are likely to become less optimal as climate change progresses. To date, management and conservation of sea turtles has focused almost entirely on non-climatic stressors, due at least in part to practitioners not knowing what strategies to take and the feasibility and risks of potential strategies. To aid the management of sea turtles in a changing environment, we identified management strategies via a focus workshop and surveys to mitigate the impacts of climate change to the terrestrial reproductive phase of sea turtles. The effectiveness, ecological risks and potential social and logistical constraints associated with implementing each of the identified management strategies is discussed. Twenty management strategies were identified; strategies varied from habitat protection to more active and direct manipulation of nests and the nesting environment. Based on our results, we suggest a three-pronged approach to sea turtle conservation in light of climate change, where managers and researchers should: 1) enhance sea turtle resilience to climate change by mitigating other threats; 2) prioritise implementing the ‘no regret’ and ‘reversible’ management strategies identified here; and 3) fill the knowledge gaps identified to aid the trial and implementation of the potential strategies identified here. By combining these three approaches our collective toolkit of sea turtle management strategies will expand, giving us an array of viable approaches to implement as climate change impacts become more extreme.     

Economic benefits from decreased mercury emissions: Projections for 2020

Anthropogenic processes have increased the exposure of humans and wildlife to toxic methyl mercury (MeHg). Mercury emissions will increase by about 25% between 2005 and 2020, if the present trajectory is maintained. A global assessment of societal damages caused by the ingestion of methyl mercury, based merely on loss of IQ (Intelligence Quotient), suggests that the annual cost will be approximately US$3.7 billion (2005 dollars) in 2020. The corresponding cost of damages resulting from the inhalation of methyl mercury is estimated at US$2.9 million (2005 dollars). Under a higher degree of emission control such as in the case of the Extended Emission Control (EXEC) and the Maximum Feasible Technological Reduction (MFTR) scenarios, total emissions could decrease in the period 2005–2020 by about 50–60%. The corresponding annual benefits in 2020 are estimated to be about US$1.8–2.2 billion (2005 dollars). Large economic benefits can be achieved by reducing global mercury emissions.     

Hybridization between wheat (Triticum aestivum) and the wild species Aegilops geniculata and A. biuncialis under experimental field conditions

Hybridization between Aegilops geniculata, A. biuncialis and bread wheat Triticum aestivum has been evaluated during two seasons under simulated field conditions to estimate the field hybridization rate under Central Spain conditions. The mean frequencies of hybridization between A. biuncialis and A. geniculata with wheat were 0.34% and 0.31%, respectively. Data from 10 hybrid plants for each combination showed that hybrids can be partially fertile by backcrossing with wheat parent, with percent averages of 3.17 grains/spikelets for A. biuncialis × wheat hybrids and 2.87 grains/spikelets for A. geniculata × wheat hybrids. Self-pollination, although at very low rates, was also possible in hybrids. The potential risks associated with natural hybridization in the context of transgenic wheat cultivation are discussed.     

Integrated strategies to reduce vulnerability and advance adaptation,mitigation, and sustainable development

Determinants of adaptive and mitigative capacities (e.g., availability of technological options, and access to economic resources, social capital and human capital) largely overlap. Several factors underlying or related to these determinants are themselves indicators of sustainable development (e.g., per capita income; and various public health, education and research indices). Moreover, climate change could exacerbate existing climate-sensitive hurdles to sustainable development (e.g., hunger, malaria, water shortage, coastal flooding and threats to biodiversity) faced specifically by many developing countries. Based on these commonalities, the paper identifies integrated approaches to formulating strategies and measures to concurrently advance adaptation, mitigation and sustainable development. These approaches range from broadly moving sustainable development forward (by developing and/or nurturing institutions, policies and infrastructure to stimulate economic development, technological change, human and social capital, and reducing specific barriers to sustainable development) to reducing vulnerabilities to urgent climate-sensitive risks that hinder sustainable development and would worsen with climate change. The resulting sustainable economic development would also help reduce birth rates, which could mitigate climate change and reduce the population exposed to climate change and climate-sensitive risks, thereby reducing impacts, and the demand for adaptation. The paper also offers a portfolio of pro-active strategies and measures consistent with the above approaches, including example measures that would simultaneously reduce pressures on biodiversity, hunger, and carbon sinks. Finally it addresses some common misconceptions that could hamper fuller integration of adaptation and mitigation, including the notions that adaptation may be unsuitable for natural systems, and mitigation should necessarily have primacy over adaptation.