Prenatal diagnosis and carrier detection in mucopolysaccharidosis type II by mutation analysis. A 47,xxy male heterozygous for a missense point mutation

Identification of iduronate-2-sulphatase (IDS) gene mutations in patients with mucopolysaccharidosis type II (MPS II, Hunter syndrome) allows fast and reliable carrier detection and prenatal diagnosis. We describe here three cases of prenatal diagnosis by direct detection of the gene mutation. In addition to two affected male fetuses from two different families, a 47,XXY fetus carrying both the normal and the mutant allele was diagnosed in a third family. The latter pregnancy was carried to term and the child is obviously not affected by MPS II.     

Metallakkumulation in Moosen: Standörtliche und regionale Randbedingungen des Biomonitoring von Luftverunreinigungen

Goal and Scope

Several studies show that the concentration of metals in mosses depends not only on metal deposition but also on factors such as moss species, canopy drip, precipitation, altitude, distance to the sea and the analytical technique used. However, contrasting results have been reported and the interpretation of the spatial variability of the metal accumulation in mosses remains difficult. In the presented study existing monitoring data from the European Heavy Metals in Mosses Surveys together with surface data on precipitation, elevation and land use are statistically analysed to assess factors other than emissions that have an influence on the metal accumulation in the mosses.

Main Features

Inference statistics and Spearman correlation analysis were applied to examine the association of the metal accumulation and the distance of the monitoring sites to the sea as well as the altitude. Whether or not significant differences of the metal loads in the mosses exist at national borders was examined with help of the U-test after Mann and Whitney. In order to identify and rank the factors that are assumed to have an influence on the metal uptake of the mosses Classification and Regression Trees (CART) were applied.

Results

No clear tendency could be derived from the results of the inference statistical calculations and the correlation analyses with regard to the distance of the monitoring site to the sea and the altitude. According to the results of the CART-analyses mainly the moss species, potential emission sources around the monitoring sites, canopy drip and precipitation have an effect on the metal bioaccumulation. Assuming that each participating country followed strictly the manual for sampling and sample preparation the results of the inference statistical calculations furthermore suggest that in most cases different techniques for digestion and analysis bias the measurements significantly.

Discussion

For the first time a national monitoring data base consisting of measurement data and metadata as well as surface information on precipitation, land use and elevation was applied to examine influence factors on the metal bioaccumulation in mosses. The respective results mirror existing knowledge from other national studies to a large extend, although further analyses are necessary to affirm the findings. These analyses should include data from other national monitoring programmes and should additionally be carried out with other decision tree algorithms than CART.

Conclusions

The local variability in the metal concentration in mosses can be uncovered in terms of predictors or underlying hidden causes by using CART. Ideally, such an approach should be applied across the whole of Europe. This will only be feasible if all participating countries provide additional information about site characteristics as currently is done in for example the German moss surveys.

Recommendations

The UNECE Metals in Mosses Survey experimental protocol should be improved in order to reduce the observed influences, to enhance standardisation, and to strengthen the quality control. This implies the integration of sampling site describing metadata into the assessment. Furthermore, basis research is needed to test the hypothesis concerning moss species-specific accumulation of depositions.

Perspectives

Provided that the presented results hold true in further analyses correction factors should be applied on the moss data in order to get the depicted spatial patterns and temporal trends of metal bioaccumulation unbiased. Such factors should be calculated for natural landscape units or ecoregions that are homogeneous with regard to climate, vegetation and altitude.     

Migration of uranium(IV)/(VI) in the presence of humic acids in quartz sand: a laboratory column study

The migration behavior of U(IV) and U(VI) in the presence of humic acid was studied in a quartz sand system. Laboratory column experiments were performed using humic acid, U(VI) in humic acid absence, U(IV) and U(VI) in humic acid presence, and for comparison a conservative tracer. In experiments using humic acid, both redox species of U migrate nearly as fast as the conservative tracer. Humic acid accelerates the U(VI) breakthrough compared to the humic acid-free system. There are strong indications for a similar effect on the U(IV) transport. At the same time, a part of U(IV) and U(VI) associated with the humic acid is immobilized in the quartz sand due to humic colloid filtration thus producing a delaying effect. Tailing at a low concentration level was observed upon tracer elution. The experimental breakthrough curves were described by reactive transport modeling using equations for equilibrium and kinetic reactions. The present study demonstrates that humic acids can play an important role in the migration of actinides. As natural organic matter is ubiquitous in aquifer systems, the humic colloid-borne transport of actinides is of high relevance in performance assessment.     

Metal accumulation in mosses across national boundaries: uncovering and ranking causes of spatial variation

This study aimed at cross-border mapping metal loads in mosses in eight European countries in 1990, 1995, and 2000 and at investigating confounding factors. Geostatistics was used for mapping, indicating high local variances but clear spatial autocorrelations. Inference statistics identified differences of metal concentrations in mosses on both sides of the national borders. However, geostatistical analyses did not ascertain discontinuities of metal concentrations in mosses at national borders due to sample analysis in different laboratories applying a range of analytical techniques. Applying Classification and Regression Trees (CART) to the German moss data as an example, the local variation in metal concentrations in mosses were proved to depend mostly on different moss species, potential local emission sources, canopy drip and precipitation.     

Pigeon homing: sun compass use in the southern hemisphere

Although the sun compass of birds is based on learning the sun's arc during development, it was unclear whether birds can use the sun when its apparent movement is reversed, in particular, whether northern birds that have been introduced into the southern hemisphere can use the southern sun. To answer this question, clock-shift experiments were performed with local homing pigeons in Auckland, New Zealand (37°S). In three fast-shift tests and two slow-shift tests, the experimental birds showed deflections from the untreated controls that were the mirror images of those observed in the northern hemisphere. These results clearly show that homing pigeons in New Zealand use a sun compass that is adapted to the situation in the southern hemisphere. The learning processes establishing the compensation mechanisms thus appear to be free of constraints concerning the direction of the sun's movement. Differences from recent findings with migratory birds, where the direction of celestial rotation proved of crucial importance for establishing the migratory direction, are discussed: the differences may arise from the different orientation tasks, in particular, from the involvement of innate information in establishing the migratory direction. Received: 13 November 1997 / Accepted after revision: 28 February 1998     

Assessment of surface area normalisation for interpreting distribution coefficients (Kd) for uranium sorption

Adsorption of radionuclides on soils and sediments is commonly quantified by distribution coefficients (K_d values). This paper examines the relationship between K_d values for uranium(VI) adsorption and the specific surface area (SSA) of geologic materials. We then investigate the potential applicability of normalising uranium (U) K_d measurements using the SSA, to produce ‘K_a values’ as a generic expression of the affinity of U for the surface. The data for U provide a reasonably coherent set of K_a values on various solid phases, both with and without ligands. The K_a representation provides a way of harmonising datasets obtained for materials having different specific surface areas, and accounting for the effects of ligands in different systems. In addition, this representation may assist in developing U sorption models for complex materials. However, a significant limitation of the K_a concept is that sorption of radionuclides at trace levels can be dominated by interactions with specific surface sites, whose abundances are not reflected by the SSA. Therefore, calculated K_a values should be interpreted cautiously.