Fetal de novo heterozygous variant in the isocitrate dehydrogenase 1 gene associated with growth restriction,skeletal, cerebral and vascular anomalies

Germline pathogenic variants in isocitrate dehydrogenase 1 (IDH1) can lead to a rare neurodevelopmental disorder called metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria, including severe skeletal and cerebral anomalies. To the best of our knowledge, no prenatal case of an IDH1 pathogenic variant has been reported in literature. Somatic sequence variants in IDH1/2 genes are described in distinct cancers, premalignant diseases and rare inherited metabolic disorders. Amniocentesis and further genetic testing including trio exome sequencing were performed due to suspicious findings on a second trimester routine prenatal ultrasound examination. The fetus was found to have growth restriction, cerebral abnormalities (ex vacuo hydrocephalus, cerebellar and vermian hypoplasia, corpus callosum dysgenesis), brachycephaly, narrow chest, persistent left superior vena cava, liver calcifications, hyperechogenic bowel, short tubular bones and joint contractures. A de novo heterozygous variant in the IDH1 gene was detected via trio exome sequencing. The prenatal diagnosis of a de novo pathogenic variant in IDH1 in a fetus with the described phenotype, obtained through trio exome sequencing, helped parents and providers with an informed decision making about pregnancy management.     

Psychosocial drivers of land management behaviour: How threats,norms, and context influence deforestation intentions

Understanding how private landholders make deforestation decisions is of paramount importance for conservation. Behavioural frameworks from the social sciences have a lot to offer researchers and practitioners, yet these insights remain underutilised in describing what drives landholders’ deforestation intentions under important political, social, and management contexts. Using survey data of private landholders in Queensland, Australia, we compare the ability of two popular behavioural models to predict future deforestation intentions, and propose a more integrated behavioural model of deforestation intentions. We found that the integrated model outperformed other models, revealing the importance of threat perceptions, attitudes, and social norms for predicting landholders’ deforestation intentions. Social capital, policy uncertainty, and years of experience are important contextual moderators of these psychological factors. We conclude with recommendations for promoting behaviour change in this deforestation hotspot and highlight how others can adopt similar approaches to illuminate more proximate drivers of environmental behaviours in other contexts.Supplementary informationThe online version of this article (10.1007/s13280-020-01491-w) contains supplementary material, which is available to authorized users.     

Bibliometric analysis of advanced oxidation processes (AOPs) in wastewater treatment: global and Ibero-American research trends

Environmental Science and Pollution Research - Advanced oxidation processes (AOPs) constitute a developing area of particular interest for researchers in different fields due to their broad range...     

Application of XAFS and XRD methods for describing the copper and zinc adsorption characteristics in hydromorphic soils

Environmental Geochemistry and Health - Modeling metal sorption in soils is of great importance to predict the fate of heavy metals and to assess the actual risk driven from pollution. The present...     

Stability of Hepatitis E Virus After Drying on Different Surfaces

Food and Environmental Virology - The hepatitis E virus (HEV) causes acute and chronic hepatitis in humans. The zoonotic HEV genotype 3 is mainly transmitted by consumption of contaminated food...     

Structural and functional responses of benthic invertebrates to imidacloprid in outdoor stream mesocosms

Structural and functional responses of a benthic macroinvertebrate assemblage to pulses of the insecticide imidacloprid were assessed in outdoor stream mesocosms. Imidacloprid pulses reduced invertebrate abundance and community diversity in imidacloprid-dosed streams compared to control streams. These results correlated well with effects of imidacloprid on leaf litter decomposition and feeding rates of Pteronarcys comstocki, a stonefly, in artificial streams. Reductions in oxygen consumption of stoneflies exposed to imidacloprid were also observed in laboratory experiments. Our findings suggest that leaf litter degradation and single species responses can be sensitive ecotoxicological endpoints that can be used as early warning indicators and biomonitoring tools for pesticide contamination. The data generated illustrates the value of mesocosm experiments in environmental assessment and how the consideration of functional and structural endpoints of natural communities together with in situ single species bioassays can improve the evaluation and prediction of pesticide effects on stream ecosystems.     

Molecular Taxonomy and the Conservation of the Red Wolf and Other Endangered Carnivores

Recent publications have reaffirmed that the red wolf ( Canis rufus ) is a hybrid of the coyote and the gray wolf. Besides the implications these results will likely have for future conservation efforts and allotment of resources through the Endangered Species Act for recovery of the red wolf, it is likely that broader consequences will be felt throughout the conservation community as species come under the scrutiny of a more powerful means of taxonomic identification. As molecular technology is refined in its ability to resolve taxonomic histories and uncertainties, it is likely that hybridization event(s) will be recognized in more species. This may be of particular importance for large carnivores, whose small population sizes make them susceptible to hybridization episodes with closely related, sympatric species. Because of negative perceptions, powerful antipredator advocates, conservation and resource constraints, and an enigmatic hybrid policy within the Endangered Species Act, how red-wolf taxonomy is decided by the U.S. Fish and Wildlife Service may affect the future of large carnivores in general.     

The Study of Natural Disasters, 1977–97: Some Reflections on a Changing Field of Knowledge

As part of a series of papers to mark the 21st year of publication of Disasters, it is opportune to consider some of the changes that have occurred in the field it has covered so diligently for the last two decades. The paper begins with a brief review of the major natural disasters during this period and assesses their impact. It then considers the problem of how to define two key concepts: natural disaster and vulnerability, which remains an open question. The latter is one of the key determinants of the former. Next comes a review of what has occurred in the disasters field since the journal began publication, including some notes on the rise in vulnerability, the information technology revolution and the dilemmas of hazard mitigation. The following two sections assess, respectively, what hoped-for developments did not occur during the period studied and what assets were lost in the name of progress. For example, on the theoretical front, academic over-specialisation has predominated, while on the practical side there has been insufficient transfer of technology to where it is needed. The paper concludes that analyses of disaster need to become more sophisticated and multi-disciplinary and must take account of several forms of context within which developments take place.