Prenatally detected trisomy 4 and 6 mosaicism—cytogenetic results and clinical phenotype

We report on a live-born male with 46,XY/47,XY+4/47,XY,+6 mosaicism. Trisomy 4 mosaicism was detected by karyotyping chorionic villus samples (CVS) and was confirmed by the analysis of 16 metaphases obtained from cultured amniotic fluid cells. Eight metaphases were normal (46,XY), two had trisomy 4 (47,XY,+4), and two had trisomy 6 (47,XY,+6). Two postnatal chromosomal analyses of blood lymphocytes at birth and at the age of one week were normal. Chromosomal analysis of cultured skin fibroblasts from the right inguinal region at the age of 12 months revealed trisomy 4 (47,XY,+4) in 49 metaphases, trisomy 6 (47,XY,+6) in 2 metaphases, and a normal karyotype (46,XY) in 49 cells of the 100 analyzed metaphases, respectively. The main clinical findings consist of prenatal growth retardation, hypoplasia of the right side of the face, a dysplastic and posteriorly rotated right ear, a high vaulted palate, retrognathia, aplasia of the right thumb, hypoplasia of the fingernails, a deep sacral dimple, and patchy skin hypopigmentation of the right leg. When last seen at the age of 14 months, his development was nearly normal. Five patients with trisomy 4 mosaicism have been reported previously, but none with an additional trisomy 6 mosaicism. Copyright © 2003 John Wiley & Sons, Ltd.     

Emigration mechanisms in feral house mice – a laboratory investigation of the influence of social structure,population density,and aggression

Emigration in small mammals may be strongly related to social factors, but direct observations of emigrants are rare. Feral house mice (Mus domesticus) were studied using a population cage system that allowed continuous observation of individually marked animals. Mice that left their natal cage and took up residence in cages that could only be reached by crossing a water barrier were defined as emigrants. Six pairs of house mice with their litters were placed in the system, and data on aggressive interactions, body weight, reproduction, mortality and emigration were collected daily. Both sexes emigrated, but males did so twice as often as females. Population density was not correlated with the frequency of aggression, and had no effect on the weight of emigrating individuals. Male emigrants suffered more aggression before emigration than their non-emigrant brothers of the same age; they were aggressively driven out by other males, predominantly by the father. Female emigration depended on the female’s chances of reproduction. The probability of a female reproducing decreased with increasing birth order. Females born in a late litter, who therefore had only a low chance of reproduction, dispersed earlier than those of early litters. Resident males were reproductively suppressed. Male offspring had two different strategies for attaining top rank. They could develop rapidly and reach sexual maturity early on, but face competition with the father, risking being forced to emigrate. Alternatively, they could develop slowly, stay within their family and wait for a chance to take over the dominant position. It is concluded that emigration in male and female feral house mice is caused by intrasexual competition. Received: 13 July 1995/Accepted after revision: 8 June 1996     

Projected Changes in Discharge in an Agricultural Watershed in Iowa

Our improved capability to adapt to the future changes in discharge is linked to our capability to predict the magnitude or at least the direction of these changes. For the agricultural United States Midwest, too much or too little water has severe socioeconomic impacts. Here, we focus on the Raccoon River at Van Meter, Iowa, and use a statistical approach to examine projected changes in discharge. We build on statistical models using rainfall and harvested corn and soybean acreage to explain the observed discharge variability. We then use projections of these two predictors to examine the projected discharge response. Results are based on seven global climate models part of the Coupled Model Intercomparison Project Phase 5 and two representative concentration pathways (RCPs 4.5 and 8.5). There is not a strong signal of change in the discharge projections under the RCP 4.5. However, the results for the RCP 8.5 point to a stronger changing signal related to larger projected increases in rainfall, resulting in increased trends, in particular, in the upper part of the discharge distribution (i.e., 60th percentile and above). Examination of two hypothetical agricultural scenarios indicates that these increasing trends could be alleviated by decreasing the extent of the agricultural production. We also discuss how the methodology presented in this study represents a viable approach to move forward with the concept of return period for engineering design and management in a nonstationary world.     

Fragmentation of Landscape as a Cause for Genetic Subdivision in Bank Voles

Abstract: We studied the barrier effects of various roadways on the genetic subdivision of bank vole (Clethrionomys glareolus) populations. Allele frequencies, genetic variability, and genetic distances of natural populations were calculated based on polymorphism of seven microsatellite markers. We compared bank vole populations in control areas without such barriers with animals from both sides of a country road, a railway, and a highway. Using F and R statistics, we demonstrated significant population subdivision in bank vole populations separated by the highway, but not in populations on either side of the other roadways or in the control area. Correlations between geographic and genetic distances were revealed by an extended method based on a Mantel analysis. This allowed us to measure genetic barrier effects and express them as additional geographic distances. For instance, statistically significant differences in allele frequencies in all seven loci examined existed among populations in southern Germany and Switzerland, which are separated by the Rhine River and Lake Constance. The real geographic distance between bank vole populations in Konstanz and those in Lengwil, Switzerland, was 6 km. According to this analysis the genetic barrier effect of the Rhine could be defined as an additional distance of 7.7 km. This study shows for the first time that not only old geographic barriers but also more recent fragmentation of landscape by, for example, highways has an important effect on gene flow and the genetic substructuring of populations, which should be considered in future environmental impact assessments.     

Environmental accounting on a communal level: A tool to support environmental management and decision-making by communal executives

Starting from an ecological perspective of urban-industrial areas, environmental accounting is used to analyse and to evaluate which environmental impacts are the result of communal activities (e.g. the results of different kinds of water supply systems). Therefore, the anthropogenic fluxes, the changing quality of areas as well as the processes between the environmental fields are taken into account. The approach is based on methodical elements of te Life Cycle Analysis and the Environmental Impact Assessment. Looking at the ‘urban systems’ within the communal activities, ‘ecological modelling’ gives us a new and fuller picture of the spatial and temporal character of urban metabolism. The approach supports the perception of cumulative effects and the postponement of environmental problems and opens new horizons for process-oriented environmental planning within the community. Greater efficiency and a decrease in costs can be arrived at by leaving ‘end of the pipe’ strategies; opportunities for a better planning process and measures for different individuals and organisations can be drawn up. A data base which acts as a ‘support system’ implements the computer-aided approach to environmental accounting.     

Drei neue Nickelenzyme aus anaeroben Bakterien

Until recently nickel was not considered to be an element of biological importance. Nutritional studies have shown, however, that many eucaryotic and procaryotic organisms are dependent on the transition metal for growth. Four enzymes are presently known to contain nickel: urease from plants and from bacteria; methyl CoM reductase from methanogenic bacteria; all “uptake” hydrogenases investigated so far; and carbon monoxide dehydrogenase from anaerobic bacteria. The prosthetic group of the methyl CoM reductase has been identified as a nickel tetrapyrrole, the structure of which has been elucidated.