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.     

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.     

Total versus inhalable sampler comparison study for the determination of asphalt fume exposures within the road paving industry

Exposure to asphalt fumes has a threshold limit value (TLV of 0.5 mg m(-3) (benzene extractable inhalable particulate) as recommended by the American Conference of Governmental Industrial Hygienists (ACGIH). This reflects a recent change (2000) whereby two variables are different from the previous recommendation. First is a 10-fold reduction in quantity from 5 mg m(-3) to 0.5 mg m(-3). Secondly, the new TLV specifies the "inhalable" fraction as compared to what is presumed to be total particulate. To assess the impact of these changes, this study compares the differences between measurements of paving asphalt fume exposure in the field using an "inhalable" instrument versus the historically used 'total' sampler. Particle size is also examined to assist in the understanding of the aerodynamic collection differences as related to asphalt fumes and confounders. Results show that when exposures are limited to asphalt fumes, a 1:1 relationship exists between samplers, showing no statistically significant differences in benzene soluble matter (BSM). This means that for the asphalt fume ACGIH TLV, the 'total' 37-mm sampler is an equivalent method to the "inhalable" method, referred to as IOM (Institute of Occupational Medicine), and should be acceptable for use against the TLV. However, the study found that when confounders (dust or old asphalt millings) are present in the workplace, there can be significant differences between the two samplers' reported exposure. The ratio of IOM/Total was 1.37 for milling asphalt sites, 1.41 for asphalt paving over granular base, and 1.02 for asphalt over asphalt pavements.     

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.