Prenatal diagnosis and post-mortem study of a fetus with mosaic trisomy 14 due to a dic(14)(p11)

Amniocentesis at 17 weeks' gestation revealed a mosaic karyotype—46,XX/46,XX, — 14,+dic(14)(p11). No abnormalities were detected on ultrasound. Growth and placentation were normal. The fetus was examined after termination of pregnancy and micrognathia and pulmonary hyperlobation were the only abnormalities detected. Several tissues were set up for cytogenetics, including fetal skin, kidney, ovary, and placenta. The diagnosis was confirmed by these studies. The level of mosaicism varied between tissues, with the trisomy 14 cell line highest in amniotic fluid.     

Hepatic calcifications in a fetus with trisomy 9 that underwent cordocentesis

Foci of calcification were observed at autopsy in the liver of a fetus with complete trisomy 9 on which two cordocenteses had been performed. It is suggested that liver calcifications are a possible complication of the procedure. As several other cases of calcifications in the liver and other organs of fetuses with autosomal trisomies have been described without a history of cordocentesis, further studies should be carried out to determine whether fetuses with chromosomal anomalies are more prone to thrombus formation and embolization.     

Chorionic villus sampling—short-term versus long-term culture in a subtle 2; 18 translocation

Prenatal diagnosis on chorionic villous tissue was performed for a woman with the karyotype 46,XX,t(2;18)(q32;q12)—a subtle ‘difficult’ translocation. The case illustrates the necessity of good quality cytogenetics for accurate prenatal diagnosis. For chorionic villi this can be obtained only with long-term culture.     

Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

Prenatal diagnosis of cleft lip and palate by ultrasound

Bilateral cleft lip and cleft palate can be diagnosed by ultrasonography prior to 20 weeks of pregnancy. The anomaly produces an abnormal facial profile and, on cross-section, the clefts in the maxilla are demonstrable. The method is illustrated by sonograms from a fetus in which the defect was diagnosed before trisomy 13 became known by karyotyping.     

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.     

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.