Molecular prenatal diagnosis: the impact of modern technologies

Originally prenatal diagnosis was confined to the diagnosis of metabolic disorders and depended on assaying enzyme levels in amniotic fluid. With the development of recombinant DNA technology, molecular diagnosis became possible for some genetic conditions late in the 1970s. Here we briefly review the history of molecular prenatal diagnostic testing, using Duchenne muscular dystrophy as an example, and describe how over the last 30 years we have moved from offering testing to a few affected individuals using techniques, such as Southern blotting to identify deletions, to more rapid and accurate PCR-based testing which identifies the precise change in dystrophin for a greater number of families. We discuss the potential for safer, earlier prenatal genetic diagnosis using cell free fetal DNA in maternal blood before concluding by speculating on how more recent techniques, such as next generation sequencing, might further impact on the potential for molecular prenatal testing. Progress is not without its challenges, and as cytogenetics and molecular genetics begin to unite into one, we foresee the main challenge will not be in identifying the genetic change, but rather in interpreting its significance, particularly in the prenatal setting where we frequently have no phenotype on which to base interpretation. Copyright © 2010 John Wiley & Sons, Ltd.     

Magnesium hydroxide bulk and colloid-associated 152Eu in an alkaline environment: colloid characterisation and sorption properties in the presence and absence of carbonate

The distribution of 152Eu between magnesium hydroxide bulk, colloids and solution has been assessed under alkaline conditions, such as those in nuclear fuel storage ponds. The colloidal phase has been characterised by two complementary methods: coupled ultrafiltration-ICP-AES and scanning electron microscopy. The quantity and the size distribution of the colloidal phase is strongly ionic strength-dependent. A decrease of the quantity of colloids, in particular the larger size ranges, has been observed with increasing ionic strength. Small colloids (1 kDa-10 kDa fraction) are predominant at all ionic strengths. The morphology of colloids, observed by field-emission gun scanning electron microscopy, appears to change from hexagonal prismatic (characteristic to the mineral) to spherical (energetically more favourable) as size decreases. The distribution of 152Eu between the solid and liquid/colloidal phases has been investigated at carbonate concentrations ranging from 0 to 10(-2) M by coupled ultrafiltration and gamma-spectrometry. Mg(OH)2 bulk appears to be a very strong sorbent for 152Eu, since complete sorption onto the bulk happens for carbonate concentrations as high as 10(-3) M. Scavenging of 152Eu by Mg(OH)2 colloids is negligible in the presence of Mg(OH)2 bulk. The distribution of 152Eu between liquid and colloidal phases has been investigated in the absence of bulk at various carbonate concentrations. A significant uptake of 152Eu by the colloids in solution has been observed, which decreases with increasing carbonate concentration. 152Eu appears to be mainly associated to the smallest colloids (1 kDa-10 kDa fraction). There is a strong correlation between the sorption properties and the surface area of the colloids.     

Sea-level rise vulnerability in the countries of the Coral Triangle

Sea-level rise is a major threat facing the Coral Triangle countries in the twenty-first century. Assessments of vulnerability and adaptation that consider the interactions among natural and social systems are critical to identifying habitats and communities vulnerable to sea-level rise and for supporting the development of adaptation strategies. This paper presents such an assessment using the DIVA model and identifies vulnerable coastal regions and habitats in Coral Triangle countries at national and sub-national levels (administrative provinces). The following four main sea-level rise impacts are assessed in ecological, social and economic terms over the twenty-first century: (1) coastal wetland change, (2) increased coastal flooding, (3) increased coastal erosion, and (4) saltwater intrusion into estuaries and deltas. The results suggest that sea-level rise will significantly affect coastal regions and habitats in the Coral Triangle countries, but the impacts will differ across the region in terms of people flooded annually, coastal wetland change and loss, and damage and adaptation costs. Indonesia is projected to be most affected by coastal flooding, with nearly 5.9 million people expected to experience flooding annually in 2100 assuming no adaptation. However, if adaptation is considered, this number is significantly reduced. By the end of the century, coastal wetland loss is most significant for Indonesia in terms of total area lost, but the Solomon Islands are projected to experience the greatest relative loss of coastal wetlands. Damage costs associated with sea-level rise are highest in the Philippines (US $6.5 billion/year) and lowest in the Solomon Islands (US $70,000/year). Adaptation is estimated to reduce damage costs significantly, in particular for the Philippines, Indonesia, and Malaysia (between 68 and 99%). These results suggest that the impacts of sea-level rise are likely to be widespread in the region and adaptation measures must be broadly applied.     

Comparison of vehicle activity and emission inventory between Beijing and Shanghai

Vehicle emission inventory is a critical element for air quality study. This study created systemic methods to establish a vehicle emission inventory in Chinese cities. The methods were used to obtain credible results of vehicle activity in Beijing and Shanghai. On the basis of the vehicle activity data, the International Vehicle Emission model is used to establish vehicle emission inventories. The emissions analysis indicates that 3 t of particulate matter (PM), 199 t of nitrogen oxides (NO(x)), 192 t of volatile organic compounds (VOCs), and 2403 t of carbon monoxide (CO) are emitted from on-road vehicles each day in Beijing, whereas 4 t of PM, 189 t of NO(x), 113 t of VOCs, and 1009 t of CO are emitted in Shanghai. Although common features were found in these two cities (many new passenger cars and a high taxi proportion in the fleet), the emission results are dissimilar because of the different local policy regarding vehicles. The method to quantify vehicle emission on an urban scale can be applied to other Chinese cities. Also, knowing how different policies can lead to diverse emissions is beneficial knowledge for other city governments.     

The influence of untreated wastewater to aquatic communities in the Balatuin River,The Philippines

A risk assessment of chemical constituents in rivers that receive untreated wastewater should take into account the adverse effects of increased biological oxygen demand (BOD), ammonia and reduced dissolved oxygen (DO). This concept was tested via a field study in the Balatuin River, The Philippines, where the influence of physical and chemical factors, including the consumer product chemical linear alkylbenezene sulfonate (LAS), to aquatic communities (algae, invertebrates, fish) was determined. Periphytic algae were found to be insensitive to high BOD (>10 mg/l) and ammonia (>0.01 mg unionized NH(3)/l), concentrations from organically enriched untreated wastewater discharges. However, taxa richness and abundance of macroinvertebrates were influenced greatly by the discharges. Where BOD and ammonia concentrations were elevated, the dominant taxa were oligochaete worms and chironominds. Fish and crustaceans (freshwater crabs and prawns) were found only in sites with the least BOD concentrations (furthest upstream and downstream). The maximum concentration of LAS (0.122 mg/l) was less than that expected to affect 5% of taxa (0.245 mg/l), whereas exceedences of DO and ammonia criteria were observed in several sites. The lack of recovery observed was attributed to influences of low DO, high ammonia and poor colonization from upstream and downstream reaches due to organically-enriched discharges     

Can dispersal mode predict corridor effects on plant parasites?

Habitat corridors, a common management strategy for increasing connectivity in fragmented landscapes, have experimentally validated positive influences on species movement and diversity. However, long-standing concerns that corridors could negatively impact native species by spreading antagonists, such as disease, remain largely untested. Using a large-scale, replicated experiment, we evaluated whether corridors increase the incidence of plant parasites. We found that corridor impacts varied with parasite dispersal mode. Connectivity provided by corridors increased incidence of biotically dispersed parasites (galls on Solidago odora) but not of abiotically dispersed parasites (foliar fungi on S. odora and three Lespedeza spp.). Both biotically and abiotically dispersed parasites responded to edge effects, but the direction of responses varied across species. Although our results require additional tests for generality to other species and landscapes, they suggest that, when establishing conservation corridors, managers should focus on mitigating two potential negative effects: the indirect effects of narrow corridors in creating edges and direct effects of corridors in enhancing connectivity of biotically dispersed parasites.     

Edge effects, not connectivity, determine the incidence and development of a foliar fungal plant disease

Using a model plant-pathogen system in a large-scale habitat corridor experiment, we found that corridors do not facilitate the movement of wind-dispersed plant pathogens, that connectivity of patches does not enhance levels of foliar fungal plant disease, and that edge effects are the key drivers of plant disease dynamics. Increased spread of infectious disease is often cited as a potential negative effect of habitat corridors used in conservation, but the impacts of corridors on pathogen movement have never been tested empirically. Using sweet corn (Zea mays) and southern corn leaf blight (Cochliobolus heterostrophus) as a model plant-pathogen system, we tested the impacts of connectivity and habitat fragmentation on pathogen movement and disease development at the Savannah River Site, South Carolina, USA. Over time, less edgy patches had higher proportions of diseased plants, and distance of host plants to habitat edges was the greatest determinant of disease development. Variation in average daytime temperatures provided a possible mechanism for these disease patterns. Our results show that worries over the potentially harmful effects of conservation corridors on disease dynamics are misplaced, and that, in a conservation context, many diseases can be better managed by mitigating edge effects.     

Estimation of Model VII humic binding constants for Pd2+, Sn2+, U4+, NpO2(2+), Pu4+ and PuO2(2+)

Using previously established procedures that utilise linear free energy relationships, we estimated binding constants for the Windermere Humic Aqueous Model VII (WHAM/Model VII) for several radionuclide cations (Pd(2+), Sn(2+), U(4+), NpO(2)(2+), Pu(4+) and PuO(2)(2+)). This extends the number of cations that can be calculated with the model above the 40 included in the original Model VII work. When combined with equilibrium constants for inorganic species this allows the calculation of equilibrium distributions of chemical species under a wide range of conditions.     

Non-invasive measurement of carbon monoxide burden in Guatemalan children and adults following wood-fired temazcal (sauna-bath) use

The use of wood-fired steam baths, or temazcales, is a potentially dangerous source of CO exposure in Guatemalan Highland communities where adults and children use them regularly for bathing, relaxation, and healing purposes. Physical characteristics of children predispose them to absorb CO faster than adults, placing them at greater exposure and health risks. Efforts to quantify temazcal exposures across all age groups, however, have been hampered by the limitations in exposure measurement methods. In this pilot study we measured COHb levels in children and adults following use of the temazcal using three field-based, non-invasive CO measurement methods: CO-oximetry, exhaled breath, and by estimation of COHb using micro-environmental concentrations and time diaries. We then performed a brief comparison of methods. Average CO concentrations measured during temazcal use were 661 ± 503 ppm, approximately 10 times the 15 min WHO guideline. Average COHb levels for all participants ranged from 12-14% (max of 30%, min 2%), depending on the method. COHb levels measured in children were not significantly different from adults despite the fact that they spent 66% less time exposed. COHb measured by CO-oximetry and exhaled breath had good agreement, but precision of the former was affected substantially by random instrument error. The version of the field CO-oximeter device used in this pilot could be useful in screening for acute CO exposure events in children but may lack the precision for monitoring the burden from less extreme, but more day-to-day CO exposures (e.g. indoor solid fuel use). In urban settings, health effects in children and adults have been associated with chronic exposure to ambient CO concentrations much lower than measured in this study. Future research should focus on reducing exposure from temazcales through culturally appropriate modifications to their design and practices, and targeted efforts to educate communities on the health risks they pose and actions they can take to reduce this risk.