Genetic diagnosis and clinical evaluation of severe fetal akinesia syndrome

Objective

In this retrospective study, we describe the clinical course, ultrasound findings and genetic investigations of fetuses affected by fetal akinesia.

Materials and Methods

We enrolled 22 eukaryotic fetuses of 18 families, diagnosed with fetal akinesia between 2008 and 2016 at the Department of Obstetrics and Feto-Maternal Medicine at the Medical University of Vienna. Routine genetic evaluation included karyotyping and chromosomal microarray analysis. Retrospectively, exome sequencing was performed in the index case of 11 families, if stored DNA was available. Confirmation analyses and genetic diagnosis of siblings were performed by using Sanger sequencing.

Results

Whole exome sequencing identified pathogenic variants of CNTN1, RYR1, NEB, GLDN, HRAS and TNNT3 in six cases of 11 families. In three of these families, the variants were confirmed in the respective sibling.

Conclusions

The present study demonstrates a high diagnostic yield of exome sequencing in fetuses affected by akinesia syndrome, especially if family history is positive. Still, in a large part the underlying genetic cause remained unknown, whereas precise clinical evaluation in combination with exome sequencing shows to be the best tool to find the disease causing variants.     

Methods for control of indoor air quality

This report presents results of a review of available methods for control of environmental hazards applied to indoor air pollutants. Indoor air pollution originates from transport of ambient outdoor air contaminants into occupied spaces by natural infiltration ventilation, or by mechanical ventilation using outdoor makeup air, plus contributions from indoor emission sources. When air exchange with the external ambient environment is reduced to conserve energy, contributions from indoor emission sources may dominate indoor air pollutant levels. This paper identifies alternative methods available to control indoor air pollutant exposures. The performance characteristics of ventilation systems and of air cleaning devices used in mixed modes for ventilation of occupied spaces are described. Models for predicting effectiveness of several alternative modes are reviewed, with field trial validation results cited where available. Results of previous confined-space studies are briefly reviewed as points of departure for consideration of necessary air quality, ventilation, and air cleaning. Understanding of indoor air contaminant generation and controls is aided by examination of earlier studies of indoor air quality, using modern perspectives on occupational environmental health and hygiene.     

Amazonian forest loss and the long reach of China’s influence

This paper explores China’s role in deforestation in Latin America. Brazil’s Amazon region contains vast natural resources including land, timber, minerals and hydroelectric potential. China’s strong economy and large demands relative to domestic supplies of these resources mean that China has become Brazil’s largest trading partner, primarily for natural resources. The paper examines how China influences deforestation in Brazilian Amazonia in a variety of ways, including through the direct influence of Chinese enterprises through land purchases and other mechanisms. This paper finds that the rapid rise in exports of soy and beef products to China are two of the major drivers of Amazonian deforestation in Brazil. The paper further argues that Chinese purchases of agricultural and forest land and Chinese imports of commodities such as timber and aluminum also cause environmental impacts in Amazonia. Chinese financing and investment in Amazonian infrastructure such as railways and mineral processing facilities have additional impacts.     

Environmental effects of new herbicides for vegetation control in forestry

Environmental fate of and toxicity data for ammonium ethyl carbamoylphosphonate [fosamine ammonium], N-(phosphonomethyl)glycine [glyphosate], and 3-cyclohexyl-6-(dimethylamino)-1-methyl-1,3,5-triazine-2,4(1H, 3H)-dione [hexazinone] which appear promising for vegetation control in forestry are reviewed. None of the three herbicides is very persistent in soil, with half-lives reported of about 7–10 days for fosamine ammonium, 8–19 weeks for glyphosate, and 1–6 months for hexazinone, depending on soil type and climatic conditions. Degradation in soil is primarily via microbial routes. Whereas hexazinone is a very mobile herbicide (with mobility dependent on soil type), fosamine ammonium and glyphosate are strongly adsorbed and not readily leached in many soil types. Based on bioassay results, the three herbicides exhibit “very low” to “low” toxicity. Fosamine ammonium is not mutagenic and was not teratogenic when fed to pregnant rats at 10,000 ppm. Data on hexazinone indicate no carcinogenic effect in rats, negative in bacterial and mammalian point mutation assays, and not embryotoxic or teratogenic at up to 5000 ppm in diet of rats. The three herbicides have minimum-to-nil effect on soil microorganisms and exhibit little or no potential for bioaccumulation. Limitations of the available data are discussed and suggestions are made for future studies.     

Food,feed, and fuelwood resources of Nepal: A GIS evaluation

A GIS-based land evaluation model was developed to determine the food, feed, and fuelwood sufficiency of all districts in Nepal. Resource surpluses or deficits were calculated for each district for 1981, the year for which the national land resource data were available. Of the three resources, feed supplies were found to be the most critical. Feed deficits occurred in 57% of all districts in 1981, while food and fuelwood deficits occurred in less than 10% of all districts. Different scenarios were carried out for the year 2000 to estimate the magnitude of future resource deficits, assuming resource use and yields in Nepal remain constant in the face of growing population and livestock numbers. Linking resource data with spreadsheet and GIS systems provides a new way to understand and evaluate resources at the district and national levels. To more fully capture the usefulness of this approach, information on rates of change in productivity and land use is needed.