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.     

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.     

Preparing future engineers for challenges of the 21st century: Sustainable engineering

The field of engineering is changing rapidly as the growing global population puts added demands on the earth's resources: engineering decisions must now account for limitations in materials and energy as well as the need to reduce discharges of wastes. This means educators must revise courses and curricula so engineering graduates are prepared for the new challenges as practicing engineers. The Center for Sustainable Engineering has been established to help faculty members accommodate such changes through workshops and new educational materials, including a free access website with peer-reviewed materials.     

Integrated environmental assessment and pollution prevention in Vietnam: the case of anthracite production

Using the concept of life cycle analysis, the whole life cycle of anthracite production in Vietnam was assessed and the environmental “hot-spots” were identified. These include (i) dust pollution at coal transfer points or piles in storage; (ii) noise pollution resulting from the usage of heavy equipment, and (iii) high volume of acid and turbid mine water discharged into the environment.Pollution prevention and treatment options were identified and discussed in this study which consists of wet treatment of dust, planning, collection and treatment of mine water, planting of trees for dust and noise reduction as well as minimization of erosion. Some recommendations are made for pollution abatement from coal production and improvement of anthracite production in the region.     

Unemployment effects of climate policy

This paper models the unemployment effects of restrictions on greenhouse gas emissions, embodying two of the most significant types of short-term economic imperfections that generate unemployment: sectoral rigidities in labor mobility and sectoral rigidities in wage adjustments. A labor policy is also analyzed that would reduce the direct negative economic effects of the emissions restrictions.The politics of limiting greenhouse gas emissions are often dominated by relatively short-term considerations. Yet the current economic modeling of emissions limitations does not embody economic features that are likely to be particularly important in the short term, in particular, the politically sensitive unemployment rate. Moreover, only a few of these studies also consider policies that would offset the negative direct economic effects of emissions restrictions. For plausible estimates of the parameters, the model shows that, with the labor market imperfections, if there were no offsetting policies, the reductions in GNP in the U.S. in the first 10 years after emissions restrictions were imposed would be as much as 4%. However, if there were two policies, instead of just one: a counteracting labor market policy, as well as the emissions restrictions, the negative direct economic effects could be completely eliminated.     

Power matters in closing the phenotyping gap

Much of our understanding of physiology and metabolism is derived from investigating mouse mutants and transgenic mice, and open-access platforms for standardized mouse phenotyping such as the German Mouse Clinic (GMC) are currently viewed as one powerful tool for identifying novel gene-function relationships. Phenotyping or phenotypic screening involves the comparison of wild-type control mice with their mutant or transgenic littermates. In our study, we explored the extent to which standardized phenotyping will succeed in detecting biologically relevant phenotypic differences in mice generated and provided by different collaborators. We analyzed quantitative metabolic data (body mass, energy intake, and energy metabolized) collected at the GMC under the current workflow, and used them for statistical power considerations. Our results demonstrate that there is substantial variability in these parameters among lines of wild-type C57BL/6 (B6) mice from different sources. Given this variable background noise in mice that serve as controls, subtle phenotypes in mutant or transgenic littermates may be overlooked. Furthermore, a phenotype observed in one cohort of a mutant line may not be reproducible (to the same extent) in mice coming from a different environment or supplier. In the light of these constraints, we encourage researchers to incorporate information on intrastrain variability into future study planning, or to perform advanced hierarchical analyses. Both will ultimately improve the detectability of novel phenotypes by phenotypic screening. Carola W. Meyer and Ralf Elvert contributed equally to this work.     

Mitigation and adaptation synergy in forest sector

Mitigation and adaptation are the two main strategies to address climate change. Mitigation and adaptation have been considered separately in the global negotiations as well as literature. There is a realization on the need to explore and promote synergy between mitigation and adaptation while addressing climate change. In this paper, an attempt is made to explore the synergy between mitigation and adaptation by considering forest sector, which on the one hand is projected to be adversely impacted under the projected climate change scenarios and on the other provide opportunities to mitigate climate change. Thus, the potential and need for incorporating adaptation strategies and practices in mitigation projects is presented with a few examples. Firstly, there is a need to ensure that mitigation programs or projects do not increase the vulnerability of forest ecosystems and plantations. Secondly, several adaptation practices could be incorporated into mitigation projects to reduce vulnerability. Further, many of the mitigation projects indeed reduce vulnerability and promote adaptation, for example; forest and biodiversity conservation, protected area management and sustainable forestry. Also, many adaptation options such as urban forestry, soil and water conservation and drought resistant varieties also contribute to mitigation of climate change. Thus, there is need for research and field demonstration of synergy between mitigation and adaptation, so that the cost of addressing climate change impacts can be reduced and co-benefits increased.     

MR imaging of the fetal musculoskeletal system

Magnetic resonance imaging (MRI) appears to be increasingly used, in addition to standard ultrasonography for the diagnosis of abnormalities in utero. Previous studies have recently drawn attention to the technical refinement of MRI to visualize the fetal bones and muscles. Beyond commonly used T2-weighted MRI, echoplanar, thick-slab T2-weighted and dynamic sequences, and three-dimensional MRI techniques, are about to provide new imaging insights into the normal and the pathological musculoskeletal system of the fetus. This review emphasizes the potential significance of MRI in the visualization of the fetal musculoskeletal system. © 2012 John Wiley & Sons, Ltd.