Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

Prenatal diagnosis of campomelic dysplasia by ultrasonography

Consanguineous partners had a boy with campomelic dysplasia who died of increasing respiratory distress soon after birth. The next pregnancy was monitored frequently by ultrasonography and a healthy male infant was born at term. During a further pregnancy, ultrasonography suggested campomelic dysplasia in the 16th week of gestation. This was confirmed in the 18th week. The pregnancy was terminated and the fetus showed the typical radiological, anatomical and histological findings.     

Source attribution and quantification of benzene event emissions in a Houston ship channel community based on real-time mobile monitoring of ambient air

A mobile laboratory equipped with a proton transfer reaction mass spectrometer (PTR-MS) operated in Galena Park, Texas, near the Houston Ship Channel during the Benzene and other Toxics Exposure Study (BEE-TEX). The mobile laboratory measured transient peaks of benzene of up to 37 ppb_v in the afternoon and evening of February 19, 2015. Plume reconstruction and source attribution were performed using the four-dimensional (4D) variational data assimilation technique and a three-dimensional (3D) micro-scale forward and adjoint air quality model based on mobile PTR-MS data and nearby stationary wind measurements at the Galena Park Continuous Air Monitoring Station (CAMS). The results of inverse modeling indicate that significant pipeline emissions of benzene may at least partly explain the ambient concentration peaks observed in Galena Park during BEE-TEX. Total pipeline emissions of benzene inferred within the 16-km² model domain exceeded point source emissions by roughly a factor of 2 during the observational episode. Besides pipeline leaks, the model also inferred significant benzene emissions from marine, railcar, and tank truck loading/unloading facilities, consistent with the presence of a tanker and barges in the Kinder Morgan port terminal during the afternoon and evening of February 19. Total domain emissions of benzene exceeded corresponding 2011 National Emissions Inventory (NEI) estimates by a factor of 2–6.

Implications:?Port operations involving petrochemicals may significantly increase emissions of air toxics from the transfer and storage of materials. Pipeline leaks, in particular, can lead to sporadic emissions greater than in emission inventories, resulting in higher ambient concentrations than are sampled by the existing monitoring network. The use of updated methods for ambient monitoring and source attribution in real time should be encouraged as an alternative to expanding the conventional monitoring network.     

Considering the needs of indigenous and local populations in conservation programs

Local rural and indigenous communities have assumed increasing responsibility for conservation within and between areas buffering the impacts of agricultural or resource‐extraction zones and protected areas. Empowering local communities as central partners in conservation and climate‐change mitigation has allowed many people to gain access to land and citizenship rights but has provided limited improvements in access to social services and economic opportunities even as expectation about their role as environmental stewards grows. These expectations, however, are inconsistent with reality. We conducted multiple field studies in Brazil since the mid‐1980s to illustrate the discrepancies between conservation programs and local conditions and expectations. We suggest that public policies and conservation programs should not delegate responsibility for managing protected areas to local and indigenous communities without considering local needs and expectations and locals’ attitudes toward conservation. In other words, behavior that maintains or improves the environment should not be treated as traditional based on the expectations of outsiders. Framing local populations as traditional environmentalists creates contradictions and frustrations for local populations and for conservation professionals and policy makers.     

Alternative methods for the pilot-scale production and characterization of chitosan nanoparticles

Environmental Science and Pollution Research - This work describes the production/characterization of low molar mass chitosan nanoparticles derived from waste shrimp shells (SSC), as well as from a...