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.     

Effect of sewage sludge content on gas quality and solid residues produced by cogasification in an updraft gasifier

In the present work, the gasification with air of dehydrated sewage sludge (SS) with 20wt.% moisture mixed with conventional woody biomass was investigated using a pilot fixed-bed updraft gasifier. Attention was focused on the effect of the SS content on the gasification performance and on the environmental impact of the process. The results showed that it is possible to co-gasify SS with wood pellets (WPs) in updraft fixed-bed gasification installations. However, at high content of sewage sludge the gasification process can become instable because of the very high ash content and low ash fusion temperatures of SS. At an equivalent ratio of 0.25, compared with wood pellets gasification, the addition of sewage sludge led to a reduction of gas yield in favor of an increase of condensate production with consequent cold gas efficiency decrease. Low concentrations of dioxins/furans and PAHs were measured in the gas produced by SS gasification, well below the limiting values for the exhaust gaseous emissions. NH(3), HCl and HF contents were very low because most of these compounds were retained in the wet scrubber systems. On the other hand, high H(2)S levels were measured due to high sulfur content of SS. Heavy metals supplied with the feedstocks were mostly retained in gasification solid residues. The leachability tests performed according to European regulations showed that metals leachability was within the limits for landfilling inert residues. On the other hand, sulfate and chloride releases were found to comply with the limits for non-hazardous residues.     

Spatial Targeting of Agri-Environmental Measures: Cost-Effectiveness and Distributional Consequences

Agri-environmental measures are payments to farmers to reduce environmental risks or to preserve cultivated landscapes. These measures are codified in European Union regulations. Poor spatial targeting is one of the major causes of low cost-effectiveness in agri-environmental measures. Existing studies on spatial targeting focus primarily on selected individual measures; hence, they do not allow for conclusions at the program level, where the planning and implementing of decisions on a number of different measures has to be made. In this study, we analyzed the impacts of two spatial targeting options (targeting of erosion-reducing measures on erosion vulnerable areas; targeting of grassland extensification on N-pollution vulnerable areas) on the cost-effectiveness of the single measures and the entire agri-environmental program of the federal state of Brandenburg in Germany. The methodological steps included an analysis of empirical data on land use and program participation, an expert-based environmental impact assessment and a spatial allocation procedure based on linear programming. The environmental impact assessment delivered goal-specific index values for each measures-land parcel combination expressing the suitability of the measures for contributing to four regionally relevant program objectives. The cost-effectiveness of the measures and the program were calculated by putting budgetary costs in relation to the achieved environmental index sum. The calculated cost-effectiveness of the program in 2006 was 89.6% of the simulated optimal cost-effectiveness. The spatial targeting of erosion-reducing measures on erosion vulnerable areas caused an increase in the cost-effectiveness at the measures level and almost no changes at the program level. The spatial targeting of grassland extensification on N-pollution vulnerable areas, despite also improving the cost-effectiveness of this measure, had negative effects on the cost-effectiveness of the program.     

Historical trajectories in land use pattern and grassland ecosystem services in two European alpine landscapes

Regional Environmental Change - Land use and spatial patterns which reflect social-ecological legacies control ecosystem service (ES) supply. Yet, temporal changes in ES bundles associated with...