Prenatal diagnosis of hereditary tyrosinaemia: Measurement of succinylacetone in amniotic fluid

A method is proposed for prenatal diagnosis in pregnancies at risk of hereditary tryosinaemia. Affected fetuses were detected on the basis of the abnormal presence in the amniotic fluid of succinylacetone, a metabolite previously identified in sera and urines of patients suffering from hereditary tyrosinaemia. Our data show that the forty amniotic control samples had no detectable succinylacetone, while succinylacetone was found in three out of the thirteen cases at risk. Following the parents' decision, these three fetuses were aborted. The ten other mothers who brought their pregnancies to term had normal infants. Enzymatic analysis from two of the aborted fetuses' livers revealed an absence or a low activity of fumarylaceto-acetate hydrolase (EC 3.7.1.2) compared with control fetal livers of the same age.     

Fetal hypothyroidism as a complication of amiodarone treatment for persistent fetal supraventricular tachycardia

We present a case of persistent fetal supraventricular tachycardia where transplacental and direct fetal treatment with amiodarone caused an iatrogenic hypothyroidism. This condition was successfully managed with the intra-amniotic instillation of 250 μg of L-thyroxine weekly, for 3 weeks. A male infant was delivered at 32 weeks by Caesarean section. The neonatal electrocardiogram showed Wolf-Parkinson-White (WPW) syndrome, which was controlled by digoxin alone. Thyroid function normalized quickly and the baby is developing normally.     

Down syndrome maternal serum marker screening after 18 weeks' gestation

Women having access to prenatal care late in pregnancy may still wish to benefit from maternal serum screening for Down syndrome. Therefore, we established reference values for α-feto protein (AFP) and free β-human chorionic gonadotrophin (β-hCG), and assessed the diagnostic value of maternal serum marker screening at 18–35 weeks' gestation based upon a series of 4072 sera from unaffected pregnancies and 118 sera from pregnant women with fetuses affected by Down syndrome. Using a 1/250 risk cut-off, a detection rate of 72.9% (95% CI = 71.5–74.3%) was achieved with a false-positive rate of 7.51% (95% CI = 6.71–8.3%). This was not significantly different from the percentages observed in our 14–17 weeks routine screening (50 596 patients): 71.9% (95% CI = 71.5–72.3%) and 6.48% (95% CI = 6.28–6.68%), respectively. Detection and screen-positive rates were, respectively, 51.3% (95% CI = 35.6–67.0%) and 5.95% (95% CI = 5.12–6.68%) in women aunder 35 years of age, and 84.8% (95% CI = 76.9–92.7%) and 24% (95% CI = 20.7–27.3%) in women aged 35 years and over. In conclusion, maternal serum marker screening is feasible at 18 weeks' gestation and later, which may be of interest in selected cases. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of atypical tay-sachs disease by chorionic villi sampling

We studied a family at risk for atypical TSD in which the index case showed, clinically, a late onset and a gradual psychomotor deterioration and biochemically, a residual hex. A activity in leucocytes. Two prenatal diagnoses of affected fetuses were made in this family, The first one on amniotic cells, the second one on trophoblast biopsy samples. Both of them were confirmed after abortion on cultured cells. Prenatal diagnosis of TSD, even of some atypical forms is possible using trophoblast biopsy, but formal confirmation should be obtained on cultured trophoblasts.     

Spatial assessment of the economic feasibility of short rotation coppice on radioactively contaminated land in Belarus, Ukraine, and Russia. I. Model description and scenario analysis

The economic feasibility of short rotation coppice (SRC) production and energy conversion in areas contaminated by Chernobyl-derived (137)Cs was evaluated taking the spatial variability of environmental conditions into account. Two sequential GIS-embedded submodels were developed for a spatial assessment, which allow for spatial variation in soil contamination, soil type, and land use. These models were applied for four SRC production and four energy conversion scenarios for the entire contaminated area of Ukraine, Belarus, and Russia and for a part of the Bragin district, Belarus. It was concluded that in general medium-scale SRC production using local machines is most profitable. The areas near Chernobyl are not suitable for SRC production since the contamination levels in SRC wood exceed the intervention limit. Large scale SRC production is not profitable in areas where dry and sandy soils predominate. If the soil contamination does not exceed the intervention limit and sufficient SRC wood is available, all energy conversion scenarios are profitable.     

Upflow column reactor design for dechlorination of chlorinated pulping wastes by Penicillium camemberti

A Penicillium camemberti strain isolated in our laboratory has been studied for its ability to degrade chlorinated pulping wastes, presumably containing a variety of chlorinated polyphenols. In batch tests, the highest removals (76% AOX, 61% color and 65% TOC) were obtained with 0.2 g/l feed acetate concentration. The tendency of the fungus to dechlorinate bleachery effluents better under non-shaking conditions and to attach onto surfaces suggested the use of immobilized cells rather than freely suspended ones in further exploitation of the process. An upflow glass wool packed column reactor established with this fungus could be operated for nearly two years in the laboratory. At best around 70% AOX could be removed from chlorinated pulping wastes in 7.3 h of contact with no aeration and with a minimal amount of carbon supplement (0.2 g/l). Finally, an asymptotic mathematical formula for determining Michaelis-Menten kinetic rates has been derived. The kinetic rates K(m) (the Michaelis constant or saturation constant for the substrate) and V(m) (the product of maximum rate for the enzymatic reaction and biomass concentration) were then calculated as 126.386 mg/l and 2.83017 mg/lh, respectively.     

Pesticide uses and transfers in urbanised catchments

An investigation on herbicide uses in two semi-urban catchments was performed simultaneously with sampling campaigns at six stations inside both watersheds from April to July 1998. Urban uses of herbicides exceeded agricultural uses, and transfer coefficients were also higher in urban areas. Therefore, the most used product in urban areas (diuron) was by far the most contaminating product. Householders accounted for 30% of all uses. The highest measured diuron concentration in water surface was 8.7 microg l(-1) due to its use on impervious surfaces. Compared to EEC standards for drinking water production (0.1 microg l(-1)), it is clear that suburban uses of herbicides may severely endanger drinking water production from river water.     

Effects of azadirachtin on Beet soilborne pomovirus and soil biological properties on sugar beet

Beet soilborne pomovirus (BSBV) is an important soilborne virus disease in growing areas of sugar beet. BSBV was transmitted by Polymyxa betae Keskin. Effects of azadirachtin on BSBV and soil biological properties were studied under a greenhouse. The presence of BSBV was tested in soil samples using bait plant test and triple antibody sandwich-enzyme-linked immunosorbent assay (TAS-ELISA). The concentration of BSBV in sugar beet roots was significantly reduced by the application of azadirachtin to the soils. TAS-ELISA absorption values in 1.52, 3.04, and 7.60 ppm were lower than that 0.38 and 0.76 ppm of azadirachtin. Furthermore, in this study, it was determined the 0.38, 0.76, and 1.52 ppm doses of azadirachtin in soils had high amounts of soil biological properties (Cmic, BSR, DHA), while the 3.04 and 7.60 ppm doses had no statistical significance compared to the control treatments.     

Structural and functional diversity of microbial communities from a lake sediment contaminated with trenbolone, an endocrine-disrupting chemical

Effects of trenbolone (TBOH), a hormone used in cattle production, on the structure and function of microbial communities in a fresh water sediment from a lake in Southern Germany were studied in a microcosm experiment. The microbial community structure and the total gene pool of the sediment, assessed by 16S rRNA/rDNA and RAPD fingerprint analysis, respectively, were not significantly affected by TBOH. In contrast, the N-acetyl-glucosaminidase activity was almost 50% lower in TBOH treated samples (P<0.05). Also, the substrate utilization potential, measured using the BIOLOG system, was reduced after TBOH treatment. Interestingly, this potential did not recover at the end of the experiment, i.e. 19 days after the addition of the chemical. Repeated application of TBOH did not lead to an additional reduction in the substrate utilization potential. Overall results indicate that microbial community function was more sensitive to TBOH treatment than the community structure and the total gene pool.     

Incidence of Stress and Psychosocial Factors on Musculoskeletal Disorders in CAD and Data Entry.

A comparative study concerning the incidence of psychosocial factors and stress on musculoskeletal disorders (MSD) was conducted on 30 males carrying out a computer-aided design (CAD) task and on 26 females carrying out a data entry task. Both populations completed a questionnaire concerning complaints of MSD, stress symptoms, psychosocial factors and working life. This study showed that the work context was more favourable to the data entry task operators than to the CAD task operators. In addition, there were relationships in CAD and in data entry between complaints of MSD and stress variables as well as between anguish and psychosocial factors. This field study has shown the importance of stress and of the work context in the occurrence of MSD in computer work.