DDT and DDE concentrations in the blood of Mexican children residing in the southeastern region of Mexico

The aim of this study was to assess the levels of dichlorodiphenyltrichloroethane (DDT) and dichlorodiphenyldichloroethylene (DDE) in the blood of children living in the southeastern region of Mexico. In this study, we found high levels of DDT and its principal metabolite (DDE) in the blood of children residing in the communities studied. The levels of total DDT found in our study ranged from 4,676.4 ng/g lipid to 64,245.2 ng/g lipid. All of the children in the study had detectable levels of DDT and/or DDE. In conclusion, our data indicate that children living within the study areas are exposed to high levels of DDT and DDE. Moreover, these results can be used as a trigger to revisit local policies on environmental exposures.     

A little REDD model to quickly compare possible baseline and policy scenarios for reducing emissions from deforestation and forest degradation

A simple model allows rapid comparison of typical baseline and policy scenarios which might be considered under international programs to avoid CO₂ emissions caused by forest clearing, such as REDD (Reducing Emissions from Deforestation and Forest Degradation). These tests of REDD policy scenarios can also include CO₂ stored in forest products. The value of avoided emissions can also be determined if expected carbon prices, constant or varying, are included. The paper discusses simple illustrative example comparisons as well as possible feedback effects within larger scale setting of CO₂ offset availability, CO₂ price and emissions reductions.     

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.