Prenatal exclusion of Hurler's disease by leucocyte α-L-iduronidase assay

Hurler's disease was excluded in a fetus at 23 weeks' gestation by demonstrating normal iduronidase activity in fetal leucocytes following failure of amniotic cell culture after amnic-centesis at 16 and 19 weeks' gestation. The diagnosis was confirmed in the neonate.     

Genomic erosion in a demographically recovered bird species during conservation rescue

The pink pigeon (Nesoenas mayeri) is an endemic species of Mauritius that has made a remarkable recovery after a severe population bottleneck in the 1970s to early 1990s. Prior to this bottleneck, an ex situ population was established from which captive-bred individuals were released into free-living subpopulations to increase population size and genetic variation. This conservation rescue led to rapid population recovery to 400–480 individuals, and the species was twice downlisted on the International Union for the Conservation of Nature (IUCN) Red List. We analyzed the impacts of the bottleneck and genetic rescue on neutral genetic variation during and after population recovery (1993–2008) with restriction site-associated sequencing, microsatellite analyses, and quantitative genetic analysis of studbook data of 1112 birds from zoos in Europe and the United States. We used computer simulations to study the predicted changes in genetic variation and population viability from the past into the future. Genetic variation declined rapidly, despite the population rebound, and the effective population size was approximately an order of magnitude smaller than census size. The species carried a high genetic load of circa 15 lethal equivalents for longevity. Our computer simulations predicted continued inbreeding will likely result in increased expression of deleterious mutations (i.e., a high realized load) and severe inbreeding depression. Without continued conservation actions, it is likely that the pink pigeon will go extinct in the wild within 100 years. Conservation rescue of the pink pigeon has been instrumental in the recovery of the free-living population. However, further genetic rescue with captive-bred birds from zoos is required to recover lost variation, reduce expression of harmful deleterious variation, and prevent extinction. The use of genomics and modeling data can inform IUCN assessments of the viability and extinction risk of species, and it helps in assessments of the conservation dependency of populations.     

Plume rise and spread in buoyant releases from elevated sources in the lower atmosphere

This study focuses on the influence of emission conditions—velocity and temperature—on the dynamics of a buoyant gas release in the atmosphere. The investigations are performed by means of wind tunnel experiments and numerical simulations. The aim is to evaluate the reliability of a Lagrangian code to simulate the dispersion of a plume produced by pollutant emissions influenced by thermal and inertial phenomena. This numerical code implements the coupling between a Lagrangian stochastic model and an integral plume rise model being able to estimate the centroid trajectory. We verified the accuracy of the plume rise model and we investigated the ability of two Lagrangian models to evaluate the plume spread by means of comparisons between experiments and numerical solutions. A quantitative study of the performances of the models through some suitable statistical indices is presented and critically discussed. This analysis shows that an additional spread has to be introduced in the Lagrangian trajectory equation in order to account the dynamical and thermal effects induced by the source conditions.     

Effect of deuterium-depleted water on reproduction of rainbow trout

During the artificial reproduction of salmonides, the fecundity can be increased either by improving the viability of spermatozoa, or by extending the time period during which a roe micropile remains open, thus allowing its fecundation. Practically, this can be achieved by the use of some fertilising techniques suitable for fish species. Here, we show that the reproduction of rainbow trout in a 1:1 solution of deuterium-depleted water and distilled water led to a significant increase in survival of roes during their embryonic development. Moreover, the addition of glucose and fructose into the deuterium-depleted fertilising solutions led to a further increase in roe survival during embryonic development. The increase in survival is mainly explained by an increase in the motility of spermatozoa.     

Particulate organic matter in the Northern and Central Adriatic

The particulate organic matter distribution and its elemental composition in the northern and central Adriatic Sea during different seasonal periods are shown, highlighting the principal processes and factors influencing their distribution and characteristics. In the low salinity waters the concentrations of particulate carbon, nitrogen and phosphorus were higher and more variable than in the dense waters, mainly due to dilution effects which induce an abundant phytoplankton growth. Generally in summer the particulate organic matter distribution followed the trophic gradient while in winter resuspension events often became more important. Differences between summer and winter were more evident in the diluted waters and were mainly due to the seasonal heat exchanges and to the fresh water inputs. Marked differences in C/P ratios were observed in the POM: high ratios in the northern diluted waters and low in the more saline waters and in the central Adriatic.     

Uptake of cadmium into cells in culture∗

Cadmium has been recognized as pollutant of the environment for many years and numerous studies on its toxic effects have been carried out. Little, however, is known about its metabolic behaviour e.g. why the metal is accumulated so extremely rapidly into the organs of men and animals. Since the study of the individual metabolic steps is very difficult in vivo cell cultures may be used to obtain first indications of what happens in the whole animal.

We used CHO cells in monolayer culture to study the conditions under which the uptake of cadmium occurs. From serumfree medium the metal is accumulated rapidly in the cells. The uptake is inhibited very strongly by the presence of serum or albumin. Accumulation occurs against a concentration gradient and is dependent on the incubation temperature. Below 10°C no cadmium uptake is seen. Several substances which are known to affect cell metabolism have been used to influence cadmium accumulation. Neither inhibitors of energy production nor microtubule or microfilament disruptors showed any substantial effect. In contrast SH‐group blocking agents markedly reduced cadmium uptake.

The results show that cadmium uptake does not occur by passive diffusion but by some active mechanism.