Rapid whole exome sequencing in pregnancies to identify the underlying genetic cause in fetuses with congenital anomalies detected by ultrasound imaging

Objective

The purpose of this study was to explore the diagnostic yield and clinical utility of trio-based rapid whole exome sequencing (rWES) in pregnancies of fetuses with a wide range of congenital anomalies detected by ultrasound imaging.

Methods

In this observational study, we analyzed the first 54 cases referred to our laboratory for prenatal rWES to support clinical decision making, after the sonographic detection of fetal congenital anomalies. The most common identified congenital anomalies were skeletal dysplasia (n = 20), multiple major fetal congenital anomalies (n = 17) and intracerebral structural anomalies (n = 7).

Results

A conclusive diagnosis was identified in 18 of the 54 cases (33%). Pathogenic variants were detected most often in fetuses with skeletal dysplasia (n = 11) followed by fetuses with multiple major fetal congenital anomalies (n = 4) and intracerebral structural anomalies (n = 3). A survey, completed by the physicians for 37 of 54 cases, indicated that the rWES results impacted clinical decision making in 68% of cases.

Conclusions

These results suggest that rWES improves prenatal diagnosis of fetuses with congenital anomalies, and has an important impact on prenatal and peripartum parental and clinical decision making.     

An Alternative Approach to Photochemical Ozone Creation Potentials Applied under European Conditions

ABSTRACT

Photochemical ozone creation potential (POCP) values for 83 different volatile organic compounds (VOCs), including CO and CH₄, were calculated under different environmental conditions representative for Europe. These calculations show that variations in POCP values are large between different types of chemical environments and that POCP values for VOCs should be presented as ranges instead of single values. POCP ranges are based on the extremes of the POCP values and are defined with the intention to include all POCP values an individual VOC will obtain in any European environment where O₃ formation is of environmental concern. The POCP ranges indicate large differences in O₃ production between individual VOCs, which justifies the use of this ranking scale instead of treating all VOCs as a homogeneous group of species in abatement strategies.

Both the average O₃ production over 96 hr and the maximum contribution to the O₃ concentration were studied. The most efficient O₃ producers were found to be iso-prene, 2-methyl-2-butene, and acrolein. As a group, the alkenes are the most potent O₃ producers, followed by higher alkanes and then the aromatics. The calculated values show a good agreement with previously calculated POCP values under northern European conditions.     

南非志愿举措的发展

采取少数几个小的志愿步骤 南非的志愿举措大部分是由于公司经营所在的不确定法规环境的结果.环境立法的确存在,但过去执法不力,这部分地由于工业界和政府都认为增长和就业机会是与环境管理相冲突的,而且前者优于后者.希望随着可持续发展的信息得到更好的理解,那些冲突类别将成为过去的事情.     

Science-practice interactions linked to climate adaptation in two contexts: municipal planning and forestry in Sweden

This paper examines the science-practice interface in the process of adapting to climate change in society. This paper analyses science-based stakeholder dialogues with climate scientists, municipal officers and private individual forest owners in Sweden, and examines how local experts both share scientific knowledge and experience and integrate it into their work strategies and practices. The results demonstrate how local experts jointly conceptualise climate adaptation, how scientific knowledge is domesticated among local experts in dialogue with scientific experts, the emergence of anchoring devices, and the boundary-spanning functions that are at work in the respective sectors.     

Long-term stability of decontamination effect in recreational areas near the town Novozybkov, Bryansk Region, Russia

In 1995 and 1997, experimental decontamination campaigns were carried out in two recreational areas, Novie Bobovichi and Guta-Muravinka, near the town of Novozybkov, Bryansk Region, Russia. These areas were strongly affected by the Chernobyl fallout in 1986. In order to examine the long-term stability of the clean-up procedures, a programme has been carried out to continuously monitor the radiological situation in and around the decontaminated areas. This follow-up program consists of regular (1-3 times per year) measurements of absorbed gamma-dose rate in air (DR) at reference indoor and outdoor locations, repeated DR measurements on a grid, and gamma-spectrometric analysis of soil and other environmental samples. Very similar dynamics of the Chernobyl-related DR, mostly attributed to radiocaesium decay, were found in all the locations. For the period under study (September 1995-May 2003), the half-lives (years) for the reduction in radiocaesium-dependent DR contribution due to contaminant migration (in the following termed 'DRM half-lives') were, respectively, 52+/-26, 57+/-23, 43+/-21, 46+/-15, and 80+/-56 for the following locations: untreated outdoors, treated outdoors, untreated indoors, treated indoors, and undisturbed forest-grassland plots outside the recreational areas. These relatively high values of the current DRM half-lives correspond very well with the results of soil core analyses, which showed no time-dependent changes in the mean mass depths of the (137)Cs distribution, neither at treated nor at undisturbed plots. The following signs of natural restoration of the disturbed forest-meadow ecosystems have been observed at treated areas: formation of a new litter layer, development of grassy spots, mushroom growths and new generations of pines and birches. The levels of the (137)Cs content in grass and mushrooms from treated plots were one or two orders of magnitude lower, than those registered in the samples from untreated areas. The follow-up study demonstrates the long-term stability and efficiency of the decontamination carried out. There are two main reasons for the sustainment of the effects: careful implementation of adequate clean-up procedures and natural strong fixation of radiocaesium in soil-associated matrices of the ecosystems.     

Requirements of future models for inhabited areas

Models for inhabited areas are used in a variety of applications for accidental or continuous releases of radioactivity to atmosphere. Pathways of interest are external exposure from radioactive material in the cloud or deposited on indoor and outdoor surfaces and people, inhalation from the plume and from material resuspended from the ground. In developing a model for inhabited areas it is necessary to consider what the end users may need and ensure that the model is appropriate for the application; different levels of detail may be appropriate for different applications. This paper considers the main processes governing exposure in inhabited areas, commenting on the extent to which we understand them and how well current models reflect this understanding. It also identifies where the authors believe future modelling is needed and the key areas where the current inhabited area models could be improved.     

基因学与动物生态学相结合:了解动物育种中的驯化、行为及可持续性的新途径

动物行为是动物福利的核心部分,是可持续的动物育种的基础.在驯化过程中,动物已在行为和一系列其它显著特性方面产生适应性.我们对原鸡和白莱亨蛋鸡(为产蛋而选,间接为产肉而选)的行为进行了比较.原鸡在群居、探索、抗捕食和进食试验方面表现出更积极的行为.对一只原鸡与白莱亨鸡杂交后代进行的定量特性位点(QTLs)基因组扫描显示,不同的特性具有一些明显的或启示性的QTLs.一些生产QTLs与行为QTLs相重合,表明生物多向性效应对育种显型的发展也许是重要的.我们定位了一种基因,它对成为啄毛行为受害者方面有强烈影响,而啄毛是一种有害的行为紊乱现象.现代基因学配以行为分析,也许有益于未来设计出更加可持续的育种方式,培育出耐力更强的动物.