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.     

Modeling the heat transfer in acetylene cylinders during and after the exposure to fire

In this paper two different approaches for predicting the heating-up of an acetylene cylinder involved in a fire and the afterward cooling with water are presented. In the simulations polynomial functions were used to describe the temperature dependency of the thermal properties of the cylinder interior, which is a complex system composed by a solid porous material, a solvent (typically acetone) and acetylene dissolved in it. Model equations covered heat conduction in the cylinder interior and at its walls. In the first approach the cylinder surroundings were simulated as a further domain constituted by CO₂, during the fire exposure, and for water, during the cooling. In this domain the coupled heat transfer (convection and conduction) and the momentum equation (Navier–Stokes) were solved. In the second approach no further domain was considered but boundary conditions were set directly on the cylinder walls. Results of the calculations performed with both approaches are presented. This work could prove helpful in predicting to which extent the interior of an acetylene cylinder exposed to fire reaches temperatures capable of initiating the decomposition of acetylene and to determine how long a water cooling should be applied, so that the system is brought again under non-critical conditions.     

Food remains in Confuciusornis sanctus suggest a fish diet

Despite hundreds of excellent fossils of Confuciusornis, the most abundant group of birds in the Early Cretaceous, ‘Jehol Biota’ in China, there is yet no indication of the food choice of these birds. Here, we describe fish remains preserved in the alimentary system of a specimen of Confuciusornis sanctus from the Jiufotang Formation. This find is about five million years younger than all previously published confuciusornithid birds from the Yixian Formation. Although it is unknown how common fish was in the diet of Confuciusornis, the find does not support previous hypotheses that it fed on plants or grain.     

A moving target—incorporating knowledge of the spatial ecology of fish into the assessment and management of freshwater fish populations

Freshwater fish move vertically and horizontally through the aquatic landscape for a variety of reasons, such as to find and exploit patchy resources or to locate essential habitats (e.g., for spawning). Inherent challenges exist with the assessment of fish populations because they are moving targets. We submit that quantifying and describing the spatial ecology of fish and their habitat is an important component of freshwater fishery assessment and management. With a growing number of tools available for studying the spatial ecology of fishes (e.g., telemetry, population genetics, hydroacoustics, otolith microchemistry, stable isotope analysis), new knowledge can now be generated and incorporated into biological assessment and fishery management. For example, knowing when, where, and how to deploy assessment gears is essential to inform, refine, or calibrate assessment protocols. Such information is also useful for quantifying or avoiding bycatch of imperiled species. Knowledge of habitat connectivity and usage can identify critically important migration corridors and habitats and can be used to improve our understanding of variables that influence spatial structuring of fish populations. Similarly, demographic processes are partly driven by the behavior of fish and mediated by environmental drivers. Information on these processes is critical to the development and application of realistic population dynamics models. Collectively, biological assessment, when informed by knowledge of spatial ecology, can provide managers with the ability to understand how and when fish and their habitats may be exposed to different threats. Naturally, this knowledge helps to better evaluate or develop strategies to protect the long-term viability of fishery production. Failure to understand the spatial ecology of fishes and to incorporate spatiotemporal data can bias population assessments and forecasts and potentially lead to ineffective or counterproductive management actions.     

Atrazine and Alachlor Inputs to Surface and Ground Waters in Irrigated Corn Cultivation Areas of Castilla-Leon Region, Spain

The inputs of atrazine and alachlor herbicides to surface and ground waters from irrigated areas dedicated to corn cultivation in the Castilla-León (C-L) region (Spain) as related to the application of both herbicides were studied. Enzyme-linked immunosorbent assays (ELISA) were used for monitoring the atrazine and alachlor concentrations in 98 water samples taken from these areas. Seventy-nine of the samples were of ground waters and 19 were of surface waters. The concentration ranges of the herbicides detected in the study period (October 1997–October 1998) were 0.04–25.3 g L^–1 in the surface waters and 0.04–3.45 g L^–1 in the ground waters for atrazine, and 0.06–31.9 g L^–1 in the surface waters and 0.05–4.85 g L^–1 in the ground waters in the case of alachlor. The highly significant correlation observed between the concentrations of both herbicides in the surface waters (r = 0.89, p < 0.001) pointed to a parallel transport of atrazine and alachlor to these waters. A study was made of the temporal evolution of the concentrations of both herbicides, and it was found a maximum recharge of atrazine in the ground waters for April 1998 and of alachlor in October 1997 and October 1998. The temporal evolution of the concentrations of both herbicides in surface waters was parallel. The highly significant correlations observed between atrazine concentrations determined by ELISA and by HPLC (r = 0.92, p < 0.001) and between alachlor concentrations also determined by both methods (r = 0.96, p < 0.001) confirmed the usefulness of ELISA for monitoring both herbicides in an elevated number of samples. Using HPLC, the presence in some waters of the alachlor ethanesulfonate (ESA) metabolite was found at a concentration range of 0.52–4.01 g L^–1. However the interference of ESA in the determination of alachlor by ELISA was negligible. The inputs of atrazine and alachlor to waters found in this study, especially the inputs to ground waters, could pose a risk for human health considering that some waters, though sporadically, are even used for human consumption.     

Effects of Riparian Vegetation and Watershed Urbanization on Fishes in Streams of the Mid‐Atlantic Piedmont (USA)1

Abstract: The joint influences of riparian vegetation and urbanization on fish assemblages were analyzed by depletion sampling in paired forested and nonforested reaches of 25 small streams along an urbanization gradient. Nonforested reaches were narrower than their forested counterparts, so densities based on surface area differ from linear densities (based on reach length). Linear densities (based on number or biomass of fish) of American eel, white sucker and tesselated darter, and the proportion of biomass of benthic invertivores were significantly higher in nonforested reaches, while linear densities of margined madtom and the number of pool species were significantly higher in forested reaches. Observed riparian effects may reflect differences in habitat and algal productivity between forested and nonforested reaches. These results suggest that relatively small‐scale riparian restoration projects can affect local geomorphology and the abundance of fish. Dense vegetative cover in riparian zones and similar or analogous habitats in both forested and nonforested reaches, the relatively small scale of the nonforested reaches, and the low statistical power to detect differences in abundance of rare species may have limited the observed differences between forested and nonforested reaches. There was a strong urbanization gradient, with reductions of intolerant species and increases of tolerant species and omnivores with increasing urbanization. Interactions between riparian vegetation type and urbanization were found for blacknose dace, creek chub, tesselated darter, and the proportion of biomass of lithophilic spawners. The study did not provide consistent support for the hypotheses that responses of fish to riparian vegetation would be overwhelmed by urban degradation or insignificant at low urbanization.     

Will Limits of the Earth's Resources Control Human Numbers?

The current world population is 6 billion people. Even if we adopted a worldwide policy resulting in only 2.1 children born per couple, more than 60 years would pass before the world population stabilized at approximately 12 billion. The reason stabilization would take more than 60 years is the population momentum – the young age distribution – of the world population. Natural resources are already severely limited, and there is emerging evidence that natural forces already starting to control human population numbers through malnutrition and other severe diseases. At present, more than 3 billion people worldwide are malnourished; grain production per capita has been declining since 1983; irrigation per capita has declined 12% during the past decade; cropland per capita has declined 20% during the past decade; fish production per capita has declined 7% during the past decade; per capita fertilizer supplies essential for food production have declined 23% during the past decade; loss of food to pests has not decreased below 50% since 1990; and pollution of water, air, and land has increased, resulting in a rapid increase in the number of humans suffering from serious, pollution-related diseases. Clearly, human numbers cannot continue to increase.     

Composting olive mill pomace and other residues from rural southeastern Spain

The costly disposal of the semisolid residual pomace generated in the two phase extraction used in modern olive mills is causing serious problems to the small oil producers of rural southeastern Spain. Composting may be a viable alternative since complementary residues are usually available in these areas to prepare an adequate starting mixture. In this work, four different combinations of residues (pomace+rabbit manure, pomace+sheep manure, pomace+rabbit manure+rice straw, pomace+rabbit manure+almond shells) were composted in 3 ton piles aerated by turnings, using technology available to any small community of oil producers. During the four long processes (9-10 months), a steady decrease of organic matter and increases in the concentrations of nutrient and humic substances were observed, together with large increases in pH and salinity which may reduce the agronomic value of the final products.