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.     

Vitamins,folic acid and neural tube defects: Comments on investigations in the United States

No clear answer concerning whether multivitamin/folate supplementation prevents neural tube defects (NTDs) is provided by three studies in the United States. All these studies are occurrence in nature, no recurrence studies having been conducted. The Atlanta Birth Defects Study is subject to pronounced memory and recall biases, the length between event and interview being as long as 16 years. In a second study (Boston University), objections can be raised to certain aspects of the experimental design, and the claim that 22 per cent of women started vitamins sufficiently early after pregnancy diagnosis to influence NTD formation is suspicious. Our NICHD case control study of 541 women in California and Illinois revealed no evidence for multivitamins or folic acid preventing NTDs. U.S. public policy-makers face difficulties in applying results of recurrence or occurrence studies in high-risk areas to low-risk areas in the U.S.     

Genetically Modified (GM) Crops: Precautionary Science and Conflicts of Interests

Risk governance of GM plants and GMfood products is presently subject to heatedscientific and public controversies. Scientistsand representatives of the biotechnologyindustry have dominated debates concerningsafety issues. The public is suspicious withregard to the motives of scientists, companies,and political institutions involved. Thedilemmas posed are nested, embracing valuequestions, scientific uncertainty, andcontextual issues. The obvious lack of data andinsufficient information concerning ecologicaleffects call for application of thePrecautionary Principle (PP). There are,however, divergent opinions among scientistsabout the relevance of putative hazards,definition of potential ``adverse effects,' andwhether actions should be taken to preventharm. The reliance on the concept ofsubstantial equivalence in safety evaluation ofGM food is equally controversial. Consequently,value assumptions embedded in a scientificframework may be a barrier for employment ofthe PP. One of our major conclusions is thatprecautionary GMP usage requires riskassessment criteria yet undeveloped, as well asbroader and more long-term conceptions of risk,uncertainty, and ignorance. Conflicts ofinterest and public participation are otherissues that need to be taken intoconsideration. GMP governance regimes that arejustifiable from a precautionary and ethicalpoint of view must transcend traditionalscientific boundaries to include alternativescientific perspectives as well as publicinvolvement.     

Integrated water management for the Rhine river basin, from pollution prevention to ecosystem improvement

The river Rhine has been in humanity's use for many centuries for a variety of activities. However, in our time, considerable changes in the course and the natural conditions of the river and the increasing use of the river for the discharge of wastewater has caused serious floods and major ecological problems. Since 1950, the International Commission for the Protection of the Rhine (ICPR) acts as the coordination point between the states bordering the Rhine for the development of programmes for river protection. The Sandoz disaster in 1986 was a turning point in the approach of the ICPR and the starting point for the present strategy of integrated riverbasin management. Recent developments have indicated the success of the current approach.     

Unreliability of co‐occurrence‐based sediment quality guidelines for contaminated sediment evaluations at Superfund/hazardous chemical sites

Many Superfund/hazardous chemical sites include waterbodies whose sediments contain hazardous chemicals. With the need to assess, rank, and remediate contaminated sediments at such sites, as well as in other waterways, regulators seek a simple, quantitative assessment approach that feeds easily into a decision‐making scheme. Numeric, co‐occurrence‐based “sediment quality guidelines” have emerged with the appearance of administrative simplicity. However, the very foundation of the co‐occurrence approach, based on the total concentrations of a chemical(s) in sediment, is technically invalid; its application relies on additional technically invalid presumptions. Use of technically invalid evaluation approaches renders any assessment of the significance of sediment contamination unreliable. This article reviews the technical roots and assumptions of the co‐occurrence‐based SQGs, the fundamental flaws in the rationale behind their development and application, and their misapplication for sediment quality evaluation. It also reviews concepts and approaches for the more reliable evaluation, ranking, and cleanup assessment of contaminated sediments at Superfund sites and elsewhere. © 2005 Wiley Periodicals, Inc.     

The challenges of sustainability in mining regions: The coal mining region of Santa Catarina, Brazil

Throughout history, mining communities have invariably found themselves striving for a good quality of life and a long‐term future. In the 21st century, problems of maintaining the economic vitality of mining regions are now compounded by concerns about the biophysical integrity of the local environment. In regions of the world where the economic viability of the resource is marginal and achieving a reasonable quality of life is a daily struggle, sustainable mining may seem to be a dubious prospect at best. Yet the twin imperatives of global political forces and burgeoning environmental concerns are requiring industry, governments and other interests to re‐conceptualize the way in which mining takes place in communities. Although mining itself may not be seen as an industry that contributes to the achievement of environmental objectives, it could — with careful planning — be used as a tool to foster a more sustainable and healthier community. This argument is considered in the context of the coal mining region of Santa Catarina, Brazil.     

An enzyme-linked immunosorbent assay for the determination of dioxins in contaminated sediment and soil samples

A 96-microwell enzyme-linked immunosorbent assay (ELISA) method was evaluated to determine PCDDs/PCDFs in sediment and soil samples from an EPA Superfund site. Samples were prepared and analyzed by both the ELISA and a gas chromatography/high resolution mass spectrometry (GC/HRMS) method. Comparable method precision, accuracy, and detection level (8 ng kg(-1)) were achieved by the ELISA method with respect to GC/HRMS. However, the extraction and cleanup method developed for the ELISA requires refinement for the soil type that yielded a waxy residue after sample processing. Four types of statistical analyses (Pearson correlation coefficient, paired t-test, nonparametric tests, and McNemar's test of association) were performed to determine whether the two methods produced statistically different results. The log-transformed ELISA-derived 2,3,7,8-tetrachlorodibenzo-p-dioxin values and log-transformed GC/HRMS-derived TEQ values were significantly correlated (r=0.79) at the 0.05 level. The median difference in values between ELISA and GC/HRMS was not significant at the 0.05 level. Low false negative and false positive rates (<10%) were observed for the ELISA when compared to the GC/HRMS at 1,000 ng TEQ kg(-1). The findings suggest that immunochemical technology could be a complementary monitoring tool for determining concentrations at the 1,000 ng TEQ kg(-1) action level for contaminated sediment and soil. The ELISA could also be used in an analytical triage approach to screen and rank samples prior to instrumental analysis.