In vitro amplification of the α1-antitrypsin gene: Application to prenatal diagnosis

Discrimination of the M, Z, and S alleles of α₁-antritrypsin (AAT) has been carried out using in vitro gene amplification with the polymerase chain reaction (PCR). Amplification of 90 nucleotides surrounding the Z mutation site and 120 nucleotides surrounding the S mutation site dramatically improves the sensitivity and reliability of allele-specific oligonucleotide (ASO) hybridization for direct detection of these alleles. Analysis is performed using Southern blots or dot blots hybridized with 19 base oligonucleotides and differentially washed for allele specificity. Amplification of the Z and S mutation sites can be combined in one PCR to allow detection of both mutations when analysed by gel electrophoresis and Southern transfer. This technique can be performed reliably using less than 0·1 μg of genomic DNA or less than 100 amniocytes or white blood cells. This technique has been used to perform prenatal diagnosis on a chorionic villus sample (CVS) in a fetus at risk for the ZZ Pi type form of AAT deficiency.     

Persistent organochlorines in the serum of the non-occupationally exposed New Zealand population

Concentrations of polychlorinated dibenzo-p-dioxins (PCDDs), polychlorinated dibenzofurans (PCDFs), polychlorinated biphenyls (PCBs), and organochlorine pesticides were measured in the serum of a sample of the New Zealand population aged 15 years and older. This was the first study to obtain representative measures of PCDDs, PCDFs and PCBs in the adult population of an entire country. Serum samples were obtained in 1996-1997. Potentially occupationally exposed individuals were excluded. Serum samples were pooled according to stratification criteria for area of residence, ethnicity, age, and sex. Of the 80 possible strata, sufficient serum for chemical analysis was available for 60, to which 1,834 individual samples contributed. For the PCDDs and PCDFs, most 2,3,7,8-chlorinated congeners were measured in all strata, with a mean toxic equivalents concentration across all strata of 12.8 ng TEQ kg(-1) lipid. Seven PCB congeners were frequently measured, including the coplanar congeners #126 and #169, quantified in all strata. Of the pesticides and their metabolites, only beta-HCH, dieldrin and pp'-DDE were consistently detected across strata. There was a general trend of increasing concentration with age. There were no consistent differences between the sexes, or between people of Maori (the indigenous people of New Zealand) and non-Maori ethnicity. Concentrations of PCDDs and PCDFs tended to increase in a North-South direction, possibly reflecting greater levels of industrialization and population concentration, and concentrations of the pesticide products were highest in the South, possibly reflecting historical use patterns. Results were consistent with a recent study of concentrations of these compounds in the milk of first-time mothers.     

Numerical simulation of smoke plumes from large oil fires

A large eddy simulation (LES) model of smoke plumes generated by large outdoor pool fires is presented. The plume is described in terms of steady-state convective transport by a uniform ambient wind of heated gases and particulate matter introduced into a stably stratified atmosphere by a continuously burning fire. The Navier-Stokes equations in the Boussinesq approximation are solved numerically with a constant eddy viscosity representing dissipation on length scales below the resolution limits of the calculation. The effective Reynolds number is high enough to permit direct simulation of the large-scale mixing over two to three orders of magnitude in length scale. Particulate matter, or any non-reacting combustion ;product, is represented by Lagrangian particles which are advected by the fire-induced flow field. Background atmospheric motion is described in terms of the angular fluctuation of the prevailing wind, and represented by random perturbations to the mean particle paths. Results of the model are compared with two sets of field experiments.     

Simulation of interrelations of the Everglades' marsh,peat, fire,water and phosphorus

Some of the principal controlling factors affecting the Everglades marsh system were combined in a simple model including growth of grass, water levels, rain, transpiration, peat deposition, fire and phosphorus and controlled inflow of water containing nutrients. Using data from published sources, coefficients were estimated and the model was simulated for several regimes, for varying concentrations of nutrient in the inflows and for varying access to fire. The resulting graphs resemble patterns reported from the Everglades, with some regimes producing regular repeating patterns and frequent small fires, whereas other regimes produced erratic and widely fluctuating patterns of vegetation, flood and fire. High phosphorus increased water loss by affecting plant transpiration: oscillations of vegetation and fire caused nutrient oscillations. Inflow of low nutrient water decreased nutrient levels by binding nutrients in plant masses. Continuous high water levels developed large accumulations of vegetation and peat, binding the nutrients, making larger fires when water levels were lowered. If this model is pertinent, a regular period of variation of water inflow and limited nutrients may be means for management of marshes for long range stability.     

Metal Contamination of Sediments and Soils of Bayou Saint John: A Potential Health Impact to Local Fishermen?

This research examines the pattern of sediment contamination of an urban bayou of New Orleans (formerly a natural waterway) and the potential for human exposure from consumption of fish caught in the bayou. Sediments and soils of Bayou Saint John were evaluated for lead (Pb), zinc (Zn), and cadmium (Cd). Sediment cores were collected at bridges (n = 130) and sites between the bridges (n = 303) of the bayou. In addition, soil samples (n = 66) were collected along the banks of the bayou. Sediments below the bridges contain significantly more (p-value approximately 10(-7)) Pb and Zn (medians of 241 and 230 mg kg(-1), respectively) than bayou sediments located between bridges (medians of 64 and 77 mg kg(-1), respectively). Sediments below bridges of the upper reaches of the bayou contain significantly larger amounts of metals (p < 10(-14) for Pb and Zn and p approximately 10(-8) for Cd) (medians of 329, 383 and 1.5, respectively) than sediments below bridges in the lower reaches of the bayou (medians of 43, 31 and 0.5 for Pb, Zn and Cd, respectively). Likewise, medians for sediments located between bridges contain significantly (p < 10(-14)) higher quantities of Pb, Zn and Cd (170, 203 and 1.8 mg kg(-1), respectively) in the upper bayou than Pb, Zn, and Cd (48, 32, and 0.8 mg kg(-1), respectively) in the lower reaches of the bayou. The potential risk for human exposure may be magnified by the fact that fishing generally occurs from the numerous bridges that cross the bayou. Poor and minority people do most of the fishing. Most people (87%) indicated they ate fish they caught from the Bayou.     

Estimating the exposure of small mammals at three sites within the Chernobyl exclusion zone--a test application of the ERICA Tool

An essential step in the development of any modelling tool is the validation of its predictions. This paper describes a study conducted within the Chernobyl exclusion zone to acquire data to conduct an independent test of the predictions of the ERICA Tool which is designed for use in assessments of radiological risk to the environment. Small mammals were repeatedly trapped at three woodland sites between early July and mid-August 2005. Thermoluminescent dosimeters mounted on collars were fitted to Apodemus flavicollis, Clethrionomys glareolus and Microtus spp. to provide measurements of external dose rate. A total of 85 TLDs were recovered. All animals from which TLDs were recovered were live-monitored to determine (90)Sr and (137)Cs whole-body activity concentrations. A limited number of animals were also analysed to determine (239,240)Pu activity concentrations. Measurements of whole-body activity concentrations and dose rates recorded by the TLDs were compared to predictions of the ERICA-Tool. The predicted (90)Sr and (137)Cs mean activity concentrations were within an order of magnitude of the observed data means. Whilst there was some variation between sites in the agreement between measurements and predictions this was consistent with what would be expected from the differences in soil types at the sites. Given the uncertainties of conducting a study such as this, the agreement observed between the TLD results and the predicted external dose rates gives confidence to the predictions of the ERICA Tool.     

Decision-making in environmental radiation protection: using the ERICA Integrated Approach

The ERICA Integrated Approach and its associated tool and databases provide a method by which the likely impact of radioactive discharges on the environment can be evaluated, see Fig. 1. The various factors, which should be taken into account when making decisions both during and after an assessment has been made, are discussed for each stage in the assessment process for a hypothetical case study. The assessment will demonstrate the issues associated with the decision-making process at Tiers 1 and 2 within the ERICA Tool and how they may vary. The case study, set in England, evaluates the environmental impact of radioactive substances released under authorisation in response primarily to conservation legislation, because of the need to demonstrate that no adverse impacts will occur on Natura 2000 sites as a result of the release of an authorised substance.     

The United States Department of Energy's Regional Carbon Sequestration Partnerships Program Validation Phase

This paper reviews the Validation Phase (Phase II) of the Department of Energy's Regional Carbon Sequestration Partnerships initiative. In 2003, the U.S. Department of Energy created a nationwide network of seven Regional Carbon Sequestration Partnerships (RCSP) to help determine and implement the technology, infrastructure, and regulations most appropriate to promote carbon sequestration in different regions of the nation. The objectives of the Characterization Phase (Phase I) were to characterize the geologic and terrestrial opportunities for carbon sequestration; to identify CO(2) point sources within the territories of the individual partnerships; to assess the transportation infrastructure needed for future deployment; to evaluate CO(2) capture technologies for existing and future power plants; and to identify the most promising sequestration opportunities that would need to be validated through a series of field projects. The Characterization Phase was highly successful, with the following achievements: established a national network of companies and professionals working to support sequestration deployment; created regional and national carbon sequestration atlases for the United States and portions of Canada; evaluated available and developing technologies for the capture of CO(2) from point sources; developed an improved understanding of the permitting requirements that future sequestration activities will need to address as well as defined the gap in permitting requirements for large scale deployment of these technologies; created a raised awareness of, and support for, carbon sequestration as a greenhouse gas (GHG) mitigation option, both within industry and among the general public; identified the most promising carbon sequestration opportunities for future field tests; and established protocols for project implementation, accounting, and management. Economic evaluation was started and is continuing and will be a factor in project selection. During the Validation Phase, the seven regional partnerships will put the knowledge learned during the Characterization Phase into practice through field tests that will validate carbon sequestration technologies that are best suited to their respective regions of the country. These tests will verify technologies developed through DOE's core R&D effort and enable implementation of CO(2) sequestration on a large scale, should that become necessary. Pilot projects will have a site-specific focus to test technology; assess formation storage capacity and injectivity; validate and refine existing CO(2) formation models used to determine the transport and fate of CO(2) in the formation; demonstrate the integrity of geologic seals to contain CO(2); validate monitoring, mitigation, and verification (MMV) technologies; define project costs and compare costs of alternatives; assess potential operational and long-term storage risks; address regulatory requirements; and engage and evaluate public acceptance of sequestration technologies. Field validation tests involving both sequestration in geologic formations and terrestrial sequestration are being developed. The results from the Validation Phase will help to confirm the estimates made during the Characterization Phase and will be used to update the regional atlases and NatCarb. Answers to many questions about the effectiveness and safety of carbon sequestration technologies will be instrumental in planning for a Deployment Phase, in which large volume tests will be planned to further sequestration as an option that can mitigate GHG emissions in the United States.     

Rh isoimmunization following genetic amniocentesis

A series of 8009 genetic amniocenteses were retrospectively examined to evaluate the relationship of the procedure to Rh isoimmunization. Of the 615 Rh negative women giving birth to Rh positive infants and estimated to be at risk, thirteen (2·1 per cent) were sensitized subsequent to the amniocentesis. Eleven of the sensitizations occurred early in the programs, and a combination of experience and ultrasound performed concurrently with the amniocentesis appear to have reduced the risk of isoimmunization to that of control data from the literature.