Ökotoxikologische Untersuchung von Sedimenten und Schwebstoffen

The potential risk of ground-water contamination through the infiltration of contaminants originating from suspended matter and sediments deposited within flood retention areas in the Upper Rhine valley, as well as subsequent problems for drinking water production, were analyzed by means of the bacterial dehydrogenase activity (DHA; sediment contact test) assay with Arthrobacter globiformis and in a prolonged embryo toxicity assay using zebrafish (Danio rerio). Since the direct uptake of contaminants from particle-bound sources has usually been assumed to play only a minor role in bioaccumulation, the availability of organic extracts to biota has generally been regarded as being overestimated. In order to confirm or discard this hypothesis, organic (acetone) extracts of recently suspended, freeze-dried matter, as well as freeze-dried sediments collected from Rhine flood plains (i.e. soil samples) were compared to corresponding native samples in order to screen for the relative availability of particle-bound contaminants. Whereas a significantly higher ecotoxicological burden was observed for some native soil samples, organic extracts of suspended matter proved to be more toxic than corresponding native samples when compared to organic extracts using each test system. With respect to organic extracts, the suspended matter samples were more toxic than soil samples taken from a rarely flooded site. In contrast to the native samples, the rarely flooded soils revealed a higher toxicity than suspended matter. Therefore, organic extracts did not necessarily overestimate the toxicity of soil and suspended matter samples. Moreover, considerable toxicity of particle-bound contaminants to both bacteria and fish embryos, even in native samples, corroborate the hypothesis that particle-bound contaminants may be more readily available than is generally assumed.     

Chromosomal mosaicism confined to chorionic tissue

Chorionic villus samples from two healthy pregnant females were obtained for first trimester fetal diagnosis. The karyotypes were 46, XX/47, XX, +3 and 46, XX/47, XX, +15, respectively. In both cases fibroblast cultures after termination of pregnancy were shown to have normal karyotypes.     

Cardiac defects in chromosomally abnormal human embryos of 10–14 weeks' gestation

Cardiac defects were studied in five chromosomally abnormal embryos of 10–14 weeks' gestation by free-hand microdissection of hearts measuring 2·5–6 mm in diameter. The type of cardiac malformation alone or in association with other anomalies helped to confirm the chromosome diagnosis established prenatally by chorionic villus sampling or after spontaneous abortion. It was suggestive of a chromosomal disorder in one case in which cytogenetic investigation had failed.     

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

Background

Disease severity is important when considering genes for inclusion on reproductive expanded carrier screening (ECS) panels. We applied a validated and previously published algorithm that classifies diseases into four severity categories (mild, moderate, severe, and profound) to 176 genes screened by ECS. Disease traits defining severity categories in the algorithm were then mapped to four severity-related ECS panel design criteria cited by the American College of Obstetricians and Gynecologists (ACOG).

Methods

Eight genetic counselors (GCs) and four medical geneticists (MDs) applied the severity algorithm to subsets of 176 genes. MDs and GCs then determined by group consensus how each of these disease traits mapped to ACOG severity criteria, enabling determination of the number of ACOG severity criteria met by each gene.

Results

Upon consensus GC and MD application of the severity algorithm, 68 (39%) genes were classified as profound, 71 (40%) as severe, 36 (20%) as moderate, and one (1%) as mild. After mapping of disease traits to ACOG severity criteria, 170 out of 176 genes (96.6%) were found to meet at least one of the four criteria, 129 genes (73.3%) met at least two, 73 genes (41.5%) met at least three, and 17 genes (9.7%) met all four.

Conclusion

This study classified the severity of a large set of Mendelian genes by collaborative clinical expert application of a trait-based algorithm. Further, it operationalized difficult to interpret ACOG severity criteria via mapping of disease traits, thereby promoting consistency of ACOG criteria interpretation.

     

Optimal municipal investment in boomtowns An empirical analysis

The primary concern of this paper is the use of wage-infrastructure trade-offs as a measure for the social benefits of municipal infrastructure in boomtowns. A regression based on pooled cross sectional and time series data for 26 towns in the Rocky Moutain region suggests that individuals will “trade off” a 1% increase in per capita stocks of municipal infrastructure for a 0.035% decline in wages. These results are then used to calculate “optimal” levels of infrastructure investment for an example boomtown.