Prenatal diagnosis of mosaicism for triploidy and trisomy 13

Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.     

EFFECTS OF ADJACENT AGRICULTURAL ACTIVITIES AND WATERSHED CHARACTERISTICS ON STREAM MACROINVERTEBRATE COMMUNITIES1

Benthic macroinvertebrate communities in streams adjacent to cornfields, streams where cows had unrestricted access, and reference locations without agriculture were compared to examine the effects of local land use and land use/land cover in the watershed. At each local site, macroinvertebrates and a variety of habitat parameters were measured upstream, adjacent, downstream, and farther downstream of the local land use. A geographic information system (GIS) was used to calculate drainage basin area, land use/land cover percentages in each basin, and the distance from sample sites to the stream source. Three‐way analysis of covariance (ANCOVA) tests with date, site type, and sampling location as main effects were used to explore differences in macroinvertebrate metrics using median substrate size, percent hay/pasture area, and stream depth as covariates. The covariates significantly improved model fit and showed that multiple contributing factors influence community composition. Local impacts were greatest at sites where cows had access, probably because of sedimentation and embeddedness in the substrate. Differences between the upstream and the adjacent and downstream locations were not as great as expected, perhaps because upstream recolonization was reduced by agricultural impacts or because of differences in the intensity or proximity of agriculture to riparian areas in the watershed. The results underscore the importance of both local and watershed factors in controlling stream community composition.     

Chlorinated Hydrocarbons in Livers of American Mink (Mustela vison) and River Otter (Lutra canadensis) from the Columbia and Fraser River Basins, 1990–1992

We investigated chlorinated hydrocarbon contaminants in aquatic mustelid species on the Fraser and Columbia Rivers of northwestern North America. Carcasses of river otter (Lutra canadensis) (N=24) and mink (Mustela vison) (N=34) were obtained from commercial trappers during the winters of 1990–91 and 1991–92. Pooled liver samples were analyzed for organochlorine pesticides, polychlorinated biphenyls (PCBs), including non-ortho congeners, polychlorinated dibenzo-p-dioxins (PCDDs) and dibenzofurans (PCDFs). Most samples contained detectable concentrations of DDE, PCBs, although there was substantial variability in patterns and trends among neighboring samples. Concentrations of DDE were in some mink and several otter samples from the lower Columbia River elevated (to 4700 g/kg wet weight); excluding one mink sample from the Wenatchee area, mean DDE levels generally decreased between 1978–79 and 1990–92. PCBs were present in all samples. PCB concentrations in otter livers collected from the lower Columbia were ten-fold lower than measured a decade previously; nevertheless, a sample taken near Portland had a mean concentration of 1500 g/kg, within a range of concentrations associated with reproductive effects in captive mink. Concentrations of 2,3,7,8-TCDD and TCDF were generally below detection limits, except for one otter collected near a pulp mill at Castlegar, on the upper Columbia, with 11 ng TCDD/kg in liver. Elevated concentrations of higher chlorinated PCDD/Fs, probably resulting from use of chlorophenolic wood preservatives, were found in both species; one otter sample from the lower Columbia had 2200 ng OCDD/kg. International TCDD toxic equivalent levels in mink (31 ng/kg) and otter (93 ng/kg) from the lower Columbia River approached toxicity thresholds for effects on reproduction in ranch mink.     

Land Degradation Monitoring in Namibia: A First Approximation

This paper presents development of a first approximation of a Namibian, national level, land degradation monitoring system. The process involved a large number of stakeholders and led to the definition of four primary indicators that were regarded as related to land degradation in Namibia: population pressure, livestock pressure, seasonal rainfall and erosion hazards. These indicators were calculated annually for the period 1971–1997. Annual land degradation risk maps were produced for the same period by combining the indicators. A time series analysis of results generated by indicators was undertaken at two sites. The analysis revealed a general trend towards an increased land degradation risk over the period 1971–1997. A decrease in annual rainfall and an increase in livestock numbers caused this negative trend at one site, while decreased annual rainfall and increased human population were the causes at a second site. Evaluation of resulting maps through direct field observations and long-term monitoring at selected study sites with different conditions relevant for the indicators defined, is an essential next step.     

Equity-focused health impact assessment: A tool to assist policy makers in addressing health inequalities

In Australasia (Australia and New Zealand) the use of health impact assessment (HIA) as a tool for improved policy development is comparatively new. The public health workforce do not routinely assess the potential health and equity impacts of proposed policies or programs. The Australasian Collaboration for Health Equity Impact Assessment was funded to develop a strategic framework for equity-focused HIA (EFHIA) with the intent of strengthening the ways in which equity is addressed in each step of HIA. The collaboration developed a draft framework for EFHIA that mirrored, but modified the commonly accepted steps of HIA; tested the draft framework in six different health service delivery settings; analysed the feedback about application of the draft EFHIA framework and modified it accordingly. The strategic framework shows promise in providing a systematic process for identifying potential differential health impacts and assessing the extent to which these are avoidable and unfair. This paper presents the EFHIA framework and discusses some of the issues that arose in the case study sites undertaking equity-focused HIA.     

Characterization of microbial communities from coastal waters using microarrays

Molecular methods, including DNA probes, were used to identify and enumerate pathogenic Vibrio species in the Chesapeake Bay; our data indicated that Vibrio vulnificus exhibits seasonal fluctuations in number. Our work included a characterization of total microbial communities from the Bay; development of microarrays that identify and quantify the diversity of those communities; and observation of temporal changes in those communities. To identify members of the microbial community, we amplified the 16S rDNA gene from community DNA isolated from a biofilm sample collected from the Chesapeake Bay in February, 2000. The resultant 75 sequences were 95% or more similar to 7 species including two recently described Shewanella species, baltica and frigidimarina, that have not been previously isolated from the Chesapeake. When the genera of bacteria from biofilm after culturing are compared to those detected by subcloning amplified 16S fragments from community DNA, the cultured sample exhibited a strong bias. In oysters collected in February, the most common bacteria were previously unknown. Based on our 16S findings, we are developing microarrays to detect these and other microbial species in these estuarine communities. The microarrays will detect each species using four distinct loci, with the multiple loci serving as an internal control. The accuracy of the microarray will be measured using sentinel species such as Aeromonas species, Escherichia coli, and Vibrio vulnificus. Using microarrays, it should be possible to determine the annual fluctuations of bacterial species (culturable and non-culturable, pathogenic and non-pathogenic). The data may be applied to understanding patterns of environmental change; assessing the health of the Bay; and evaluating the risk of human illness associated with exposure to and ingestion of water and shellfish.     

Prenatal diagnosis of mosaic 4p – in a fetus with trisomy 21

Mosaicism for the Wolf-Hirschhorn syndrome, del(4)(p16), is extremely rare and has not been reported in association with a numerical chromosome abnormality. We report the prenatal diagnosis of mosaic del(4)(p16) and non-mosaic trisomy 21 in a 16-week female fetus. The pregnancy ended in spontaneous abortion at 34 weeks secondary to fetal demise. The fetus had features of both 4p – and trisomy 21.     

Transvaginal chorionic villus sampling

Chorionic villus sampling (CVS) with either transcervical catheters or transabdominal needles is a widely-accepted method for prenatal diagnosis. However, there exists a small subset of patients in whom sampling is difficult or impossible with either route because of individual anatomic variations. A new method of chorionic villus biopsy has been developed to circumvent these problems, utilizing transvaginal chorionic needle aspiration guided by an intravaginal ultrasound probe. This technique was performed successfully in 15 patients in whom villi could not be obtained by either of the conventional methods. This method now makes CVS possible in essentially all women regardless of their uterine anatomy or placental placement; it may also prove useful for very early chorionic sampling.