Prenatal exclusion of haemophilia a and carrier testing by direct detection of a disease lesion

A novel mutation was detected in the Factor VIII gene of a sporadic case of severe haemophilia A. The lesion, a CGA → TGA transition, converts Arg 795 to Term and adequately accounts for the severe phenotype observed. PCR/direct sequencing was used to confirm the carrier status in the mother. Exclusion of haemophilia A in an at-risk pregnancy was then achieved by demonstration of the absence of this lesion in fetal DNA from a chorionic villus sample. The mutation was also detectable by chemical cleavage of mismatch (CCM), which both confirmed the prenatal diagnosis and established the carrier status of the proband's sister. This example therefore serves to illustrate the potential of direct gene analysis in sporadic cases of haemophilia A and/or in families uninformative for known RFLPs.     

Trisomy 5 mosaicism detected prenatally with an affected liveborn

This paper reports a case of chromosomal mosaicism for trisomy 5 recovered from amniotic fluid cells and from skin fibroblasts of a liveborn dysmorphic male. Routine amniocentesis was performed at 16 weeks' gestation because of parental concern. Trisomy 5 cells were measured from 25 per cent of amniocytes from two culture vessels. No further invasive testing was performed until 32 weeks' gestation, at which time ultrasound examination showed fetus with intrauterine growth retardation. Fetal blood sampling was then performed, with only karyotypically normal cells recovered. At birth, the child was found to have multiple dysmorphic features and congenital anomalies, including an eventration of the diaphragm and ventricular septal defect, both of which required surgical correction. Chromosomal analysis of cord blood lymphocytes indicated 46,XY; however, 20 per cent of the cultured fibroblasts obtained from the chest skin at the incision site for diaphragmatic repair had a 47,XY,+5 karyotype. Trisomy 5 mosaicism may be another example of tissue-limited mosaicism. Fetal blood sampling can then be falsely reassuring. Furthermore, because some cell lines rarely appear in lymphocyte populations, cytogenetic analysis of multiple tissues warranted as part of the evaluation of individuals with developmental delay and dysmorphic features.     

Groundwater monitoring in the context of EU legislation: reality and integration needs

A wide range of environmental policies are based on the monitoring of chemical and/or biological parameters which are used to evaluate the environmental status of relevant compartments (e.g. water, soil, air) with the ultimate aim of making appropriate management decisions. The soundness of policy decisions is therefore directly related to the reliability of the environmental monitoring programmes. Monitoring reliability in turn is predominantly linked to scientific and technological progress. Hence a correct design, development and implementation process of environmental policies is, at least in part, dependent upon a proper integration of scientific and technological advances (in monitoring, but also for all kinds of permit procedures, remediation strategies etc.). This paper examines science-policy integration needs in support of groundwater environmental monitoring, with focus on on-going policy developments. The article aims to summarise key information on groundwater policy and EU scientific developments to raise awareness of the scientific community involved in this issue and to enhance communication among scientists and policy-makers.     

Hydrodynamic and geochemical constraints on pesticide concentrations in the groundwater of an agricultural catchment (Brévilles, France)

The monitoring of a spring and seven piezometers in the 3km(2) Brévilles agricultural catchment (France) over five and a half years revealed considerable spatial and temporal variability in the concentrations of atrazine and its metabolite deethylatrazine (both systematically quantified at the outlet spring): maximum 0.97 and 2.72microgL(-1), mean 0.19 and 0.59microgL(-1), respectively. Isoproturon, the pesticide applied in the greatest amount, was detected in only 10 of the 133 samples. These observations can only partly be explained by land use and intrinsic pesticide properties. Geochemical measurements and tritium dating showed the importance of the stratification of the sandy saturated zone and the buffer function of the unsaturated limestone. Principal component analysis on 39 monthly data series of atrazine, deethylatrazine, nitrate, chloride and piezometric levels revealed a temporal structuring of the data possibly reflecting the existence within the aquifer of two different reservoirs with time-variable contributions.     

Plants Pollute Air

A recently developed photometer utilizes near-forward scattered light to count and size aerosol particles in the diameter range 0.3-17 μ. The particles are drawn through a 1-cu mm illuminated volume without entering the body of the optical chamber. Hence, purging is almost instantaneous, and number concentrations below 1,000,000/cu ft give less than 3% coincidences. The scattered light pulse from each particle is detected by a photomultiplier tube. The resultant voltage pulses are amplified, measured by a series of ten discriminator circuits, and stored in a series of ten 5-decade electronic counters. At the end of a chosen period ranging from 1/3 to 30 min, a digital printer prints the number of particles at each diameter. At the end of the printout, the procedure automatically recycles. The instrument provides ten size classifications, each successively having a width ratio of 1.5 to 1. Greater precision is seldom practical since most aerosols contain particles of different refractive index, color, and shape, all of which affect the intensity of the scattered light. Calibration is accomplished with aerosols of uniform size such as spray-dried polystyrene and other latex suspensions, supplemented by calculations based on the Mie theory of light scattering.     

Chlorinated Solvents: Will the Alternatives be Safer?

Over the next decade, use of chlorinated solvents, a widely employed class of chemicals, will decline significantly because of increasingly stringent environmental regulations. These solvents pose certain health and environmental problems and they have been heavily scrutinized. The alternatives to the solvents are being adopted without controls. In some cases, these substances will pose other health and environmental problems that are likely to be as serious; in other cases, the alternatives have not been examined for their health and environmental effects at all. This case study demonstrates that regulations on chlorinated solvents and their potential alternatives are inconsistent with one another and conflicting.     

Aerobic Treatment of a Nitrogen-Limited Chemical Process Waste water

Abstract

Nitrogen transformations and their effect on aerobic suspended growth treatment of an industrial wastewater were studied in three parallel bench-scale reactors operated at 5 "C at mean cell residence times (MCRT) of 15, 30, and 60 days. In normal process wastewater, the bulk of influent nitrogen was in organic form, and the fraction transformed was almost totally incorporated into synthesized biomass. Assimilative control by heterotrophs maintained ammonianitrogen levels below permitted effluent levels, and nitrification was not significant. Although volatile suspended solids had a nitrogen content of only 5% to 8%, effective organics removal was maintained, and total organic carbon and filtered daily average five-day biochemical oxygen demand (BODS) were below permitted effluent levels. A marked improvement in settleability and lower effluent total suspended solids was achieved by adding ammonia-nitrogen to the wastewater in excess of stoichiometric growth requirements.

During a batch production cycle of a cationic chemical, the ratio of nitrogen to chemical oxygen demand and the fraction of the total influent nitrogen in soluble form increased in the wastewater. Reactor effluent ammonia levels increased to above permit levels at all three MCRTs during treatment of wastewater containing cationic production effluents. The magnitude of ammonia increase was greater for longer MCRTs, suggesting that synthesis of cell mass was not capable of assimilating the increased ammonia supply under these non-steady conditions. The experimental results suggest several potential strategies for operating the aerobic process at the treatment facility, including adding nitrogen to improve settleability and discontinuing these additions when wastewater contains a high ratio of nitrogen to chemical oxygen demand and an elevated soluble nitrogen fraction