Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after trans-abdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99·1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2·0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2·3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.     

First-trimester free beta (hCG) screening for Down syndrome

Maternal serum free beta (hCG) levels are elevated (median 2·20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome.     

Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors—in addition to MCAD mutations—involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members.     

DEVELOPMENT AND TESTING OF BIOINDICATORS FOR MONITORING THE CONDITION OF ESTUARINE ECOSYSTEMS

As part of the Environmental Monitoring and Assessment Programin 1991, the field efficacy of six research indicators wasexamined in the estuarine systems of the Gulf of Mexico. Theutility of these indicators was tested by examining thoseresponses at both ends of multiple environmental gradients;namely, under minimally impacted conditions (reference) andheavily impacted conditions (by hypoxia, industrialdischarges, agricultural runoff). In addition, the geographiceffects of location (east and west of the Mississippi River)were examined. Numbers and frequencies of pathologies,abundance of splenic macrophage aggregates, and vertebralabnormalities showed response patterns that suggest widerfield testing along full gradients rather than simply theextremes of the gradient are warranted. Selected bloodproteins showed some promise but logistical constraints inestuarine environments may limit its utility. Concentrationsof selected organic compounds in bile showed no differences inthis study between references and contaminated sites.Molecular bioindicators are discussed with regard to theirpotential utility as indicators of ecosystem conditions. Ofthese potential indicators, the use of vitellogenin assays asa measure of reproductive impairment and frequency of shelldisease in selected crustaceans as an indicator ofimmunological aberrations deserve further examination.     

SEDIMENT OXYGEN DEMAND IN THE ARROYO COLORADO RIVER1

ABSTRACT: The lower reaches of the Arroyo Colorado have historically failed to meet their use under subsection 303(b) of the U.S. Clean Water Act due to fecal coliform bacteria and low dissolved oxygen (DO). Fish kills, especially at the tidal confluence at the Port of Harlingen, Texas, have been reported. Oxygen demand from sediment (SOD) for a river typically has two states‐diffusion limited SOD (SOD) and potential SOD (pSOD), expressed when sediment is resuspended through increased flow or other disturbances. The objective of this research was to measure SOD in the Arroyo Colorado River in situ, estimate pSOD ex situ, and evaluate the relationship between SOD and the depositional environment. We measured SOD and pSOD in the Arroyo Colorado River at up to eight sites over three sampling events. We identified the sample sites based on a modified Rosgen geomorphic index for streambed stabilization. Sites with high sediment deposition potential had high SOD. The average values of SOD between sites were 0.62 g/m²/day (standard deviation 0.38 g/m²/day) and ranged from 0.13 to 1.2 g/m²/day. Potential SOD values ranged from as low as 19.2 to as high as 2,779 g/m³ sediment/ day. Potential SOD can serve as an indicator of the possible impact of SOD from resuspended sediment in stream systems.     

Rapid amino acid cycling in arctic and antarctic soils

Amino acids constitute one of the largest inputs of organic nitrogen (N) to most polar soils and have been hypothesized to be important in regulating vegetational succession and productivity in Arctic ecosystems. Our understanding of amino acid cycling in these soils, however, is poor. The aim of this study was to investigate the size and rate of turnover of the amino acid pool in a range of Arctic and Antarctic soils. Our results indicate that in polar soils with either high or low ornithogenic inputs the amino acid pool is small in comparison to the inorganic N pool (NO^–₃ and NH⁺₄). The free amino acid pool constituted only a small proportion of the total dissolved organic nitrogen (DON) pool in these soils. Here we show that these low concentrations may be due to rapid use by the soil microbial community in both Arctic and Antarctic soils. The turnover of the amino acid pool in soil was extremely rapid, with a half-life ranging from 2 to 24 h, indicating that this N pool can be turned over many hundred times each summer when polar soils are frequently unfrozen. The implications of amino acids in N cycling and plant and microbial nutrition are discussed.     

Decoupling task and relationship conflict: the role of intragroup emotional processing

The present paper focuses on the role of emotion in intragroup conflict processes. We propose that how group members handle emotion affects intragroup interactions and has implications for task and relationship conflict. Three types of variables—collective emotional intelligence, intragroup relational ties, and conflict‐relevant interactional norms—constrain negative emotionality and may determine whether task conflict results in damaging relationship conflict. The moderating influence of these variables is discussed, as are compositional issues associated with measuring them. Copyright © 2004 John Wiley & Sons, Ltd.     

BSE in the UK: Why the Risk Communication Strategy Failed

The 2000 BSE Inquiry report points out that the most serious failure of the UK Government was one of risk communication. This paper argues that the government's failure to communicate the risks BSE posed to humans to a large degree can be traced back to a lack of transparency in the first risk assessment by the Southwood Working Party. This lack of transparency ensured that the working party's risk characterization and recommendations were ambiguous and thus hard to interpret. It also meant that uncertainties were not addressed in a satisfactory way. In the recommendations, the attitude to uncertainty was implicit rather than explicit.The risk communication based on the report amplified these flaws. Most importantly, it did not address the uncertainty at all. Apparently, the reason for this was fear of overreaction by the public. However, the result was counter-productive, because the risk communication did not then appear trustworthy. Later risk assessments and risk communication omitted to correct these flaws. Indeed, the fact that, following receipt of new information, advisory experts and policy makers had changed their views of the risk to humans was never clearly communicated to the public. There seemed to be little faith in the public's ability to reach a balanced judgment regarding the uncertainties.In the concluding section of the paper, this analysis is compared with the food standards agency's (FSA's) approach to BSE. The intervention of this agency was seen as one of the more important efforts to restore consumer confidence in British beef. And the agency certainly appears to be committed to openness and to addressing scientific uncertainty. However, using the risk of BSE in sheep as a case study, the paper shows that transparency – i.e., the clear presentation of factual and normative claims and assumptions underlying advice, and openness about the reasoning based on these claims and assumptions – is less than fully achieved in the FSA's work.     

MODELING THE IMPACT OF MULTICOMPONENT VOCs ON GROUND WATER USING THE STEFAN‐MAXWELL EQUATION1

ABSTRACT: Computer programs that model the fate and transport of organic contaminants through porous media typically use Fick's first law to calculate vapor phase diffusion. Fick's first law, however, is limited to the case of a single, dilute species diffusing into a stagnant, high concentration, bulk vapor phase. When dealing with more than one diffusing species and at higher concentrations, the multicomponent coupling effects on vapor phase diffusion and advection of the various constituents become significant. VLEACH, a one‐dimensional finite difference model developed for the U.S. Environmental Protection Agency (USEPA), is typical of the models using Fick's first law to model vapor‐phase diffusion. The VLEACH model was modified to accommodate up to 10 components and to calculate the binary diffusion coefficients for each of the components based on molecular weight, molecular volume, temperature and pressure, and to address the coupling effects on multiple component vapor phase diffusion and its impact on ground water. The resulting model was renamed MC‐CHEMSOIL. At low vapor phase concentrations, MC‐CHEMSOIL predicts identical ground water impacts (dissolved phase loading) to those from VLEACH 2.2a. At higher vapor phase concentrations, however, the relative difference between the models exceeded 20 percent.