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.     

Etude comparee de la resistance de trois souches virales en eau de mer et en eau de riviere

The authors made a comparative study of the resistance of three strains of virus, Sabin poliovirus I, Mahoney poliovirus I and réovirus I, in sea-water and in river water, “in vitro” and “in situ” in dialysis bags. The results show the preponderant role of the incubation temperature and the exchanges existing between bags on the resistance of the viral strains. The role of these different factors is discussed.     

National aeronautics and space administration

The United States National Aeronautics and Space Administration is an important real and potential source of global environmental data. This paper describes some of its capabilities as they relate to the their R&D and their data centers.