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.     

Social-ecological system resonance: a theoretical framework for brokering sustainable solutions

Sustainability science is a solution-oriented discipline. Yet, there are few theory-rich discussions about how this orientation structures the efforts of sustainability science. We argue that Niklas Luhmann’s social system theory, which explains how societies communicate problems, conceptualize solutions, and identify pathways towards implementation of solutions, is valuable in explaining the general structure of sustainability science. From Luhmann, we focus on two key concepts. First, his notion of resonance offers us a way to account for how sustainability science has attended and responded to environmental risks. As a product of resonance, we reveal solution-oriented research as the strategic coordination of capacities, resources, and information. Second, Luhmann’s interests in self-organizing processes explain how sustainability science can simultaneously advance multiple innovations. The value logic that supports this multiplicity of self-organizing activities as a recognition that human and natural systems are complex coupled and mutually influencing. To give form to this theoretical framework, we offer case evidence of renewable energy policy formation in Texas. Although the state’s wealth is rooted in a fossil-fuel heritage, Texas generates more electricity from wind than any US state. It is politically antagonistic towards climate-change policy, yet the state’s reception of wind energy technology illustrates how social and environmental systems can be strategically aligned to generate solutions that address diverse needs simultaneously. This case demonstrates that isolating climate change—as politicians do as a separate and discrete problem—is incapable of achieving sustainable solutions, and resonance offers researchers a framework for conceptualizing, designing, and communicating meaningfully integrated actions.     

A framework for understanding climate change impacts on coral reef social–ecological systems

Corals and coral-associated species are highly vulnerable to the emerging effects of global climate change. The widespread degradation of coral reefs, which will be accelerated by climate change, jeopardizes the goods and services that tropical nations derive from reef ecosystems. However, climate change impacts to reef social–ecological systems can also be bi-directional. For example, some climate impacts, such as storms and sea level rise, can directly impact societies, with repercussions for how they interact with the environment. This study identifies the multiple impact pathways within coral reef social–ecological systems arising from four key climatic drivers: increased sea surface temperature, severe tropical storms, sea level rise and ocean acidification. We develop a novel framework for investigating climate change impacts in social–ecological systems, which helps to highlight the diverse impacts that must be considered in order to develop a more complete understanding of the impacts of climate change, as well as developing appropriate management actions to mitigate climate change impacts on coral reef and people.     

Local Arctic air pollution: Sources and impacts

Local emissions of Arctic air pollutants and their impacts on climate, ecosystems and health are poorly understood. Future increases due to Arctic warming or economic drivers may put additional pressures on the fragile Arctic environment already affected by mid-latitude air pollution. Aircraft data were collected, for the first time, downwind of shipping and petroleum extraction facilities in the European Arctic. Data analysis reveals discrepancies compared to commonly used emission inventories, highlighting missing emissions (e.g. drilling rigs) and the intermittent nature of certain emissions (e.g. flaring, shipping). Present-day shipping/petroleum extraction emissions already appear to be impacting pollutant (ozone, aerosols) levels along the Norwegian coast and are estimated to cool and warm the Arctic climate, respectively. Future increases in shipping may lead to short-term (long-term) warming (cooling) due to reduced sulphur (CO₂) emissions, and be detrimental to regional air quality (ozone). Further quantification of local Arctic emission impacts is needed.     

Interference with xenobiotic metabolic activity by the commonly used vehicle solvents dimethylsulfoxide and methanol in zebrafish (Danio rerio) larvae but not Daphnia magna

Organic solvents, such as dimethylsulfoxide (DMSO) and methanol are widely used as vehicles to solubilise lipophilic test compounds in toxicity testing. However, the effects of such solvents upon innate detoxification processes in aquatic organisms are poorly understood. This study assessed the effect of solvent exposure upon cytochrome P450 (CYP)-mediated xenobiotic metabolism in Daphnia magna and zebrafish larvae (4 d post fertilisation). Adult D. magna were demonstrated to have a low, but detectable, metabolism of ethoxyresorufin in vivo and this activity was not modulated by pre-exposure to DMSO or methanol (24 h, up to 0.1% and 0.05% v/v, respectively). In contrast, the metabolism of ethoxyresorufin in zebrafish larvae was significantly reduced by both solvents (0.1% and 0.05% v/v, respectively) after 24 h of exposure. In zebrafish, these observed decreases in activity towards ethoxyresorufin were accompanied by decreased expression of a variety of genes coding for drug metabolising enzymes (corresponding to CYP1, CYP2, CYP3 and UDP-glucuronyl transferase [UGT] family enzymes), measured by quantitative PCR. Reduction of gene expression and CYP1 enzyme activities by methanol (0.05% v/v) in zebrafish larvae was partially reversed by co-exposure with Aroclor 1254 (100 μg L⁻¹). Overall this study suggests that relatively low concentrations of organic solvents can impact upon the biotransformation of certain xenobiotics in zebrafish larvae, and that this warrants consideration when assessing compounds for metabolism and toxicity in this species.     

Impacts after four years of experimental trampling on alpine/sub-alpine environments in western Tasmania

Experimental trials were undertaken over four years to assess the impact of recreational trampling in undisturbed alpine and sub-alpine vegetation communities in the Western Arthur Range, western Tasmania. Data on 'pad' formation due to human trampling were collected using vegetation cover assessments, biomass estimates and detailed cross-sectional surface profiles. In sub-alpine buttongrass and alpine herbfield, prolonged and sustained damage may occur after 100 passes by walkers. The environmental threshold of the flat alpine herbfield site was breached after 200 passes. Plant morphology was one determinant of resistance and resilience, with upright woody shrubs and tall tussock graminoids most vulnerable to sustained trampling damage. Cushions are susceptible to trampling impacts at 500 passes. Loss of vegetation cover peaks 6-12 months after trampling. Our results show that pads formed with as few as 30-100 passes per annum and tracks form at between 100 and 500 passes per annum. Two years after the cessation of trampling, there is some small recovery in vegetation cover after 30 and 100 passes per annum applied for three years, but no evidence of recovery at the 500 pass treatments. The low trampling threshold and slow recovery rates in western Tasmania suggest that concentrating walkers on a minimal number of sites may be the best management option for these untracked alpine and sub-alpine environments.