Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families

Sialic acid storage disorders, Salla disease (SD) and a severe infantile form of disease (ISSD), are recessively inherited allelic lysosomal storage disorders due to impaired egress of free sialic acid from lysosomes. Fourteen pregnancies at risk of adult-type free sialic acid storage disease, SD, were monitored by sialic acid assays, genetic linkage or mutation detection analyses using chorionic villus samples. Three affected and 12 unaffected fetuses were identified. The first studies were based on the sialic acid assays alone, but the location of the gene enabled the use of genetic linkage analysis and, more recently, the identification of the SLC17A5 gene and disease-causing mutations added yet another possibility for prenatal studies. A missense mutation 115C→T (R39C) is present in 95% of all Finnish SD alleles, providing an easy and reliable means of diagnostic studies. Both molecular and biochemical (sialic acid assay) studies can be used for prenatal diagnosis of free sialic acid storage diseases. Copyright © 2001 John Wiley & Sons, Ltd.     

Quantification of Human Adenoviruses in European Recreational Waters

The presence of human adenoviruses (HAdV) in recreational water might cause disease in the population upon exposure. HAdV detected by PCR could also serve as indicators of the virological water quality. In order to assess the applicability of HAdV to the evaluation of the faecal contamination in European bathing waters, a real-time quantitative PCR assay was used for the quantification of HAdV in 132 samples collected from 24 different recreational marine and freshwater sites in nine European countries. Selected samples presenting positive nested PCR results for HAdV were analyzed using quantitative PCR and 80 samples from a total of 132 produced quantitative results with mean values of 3.2 × 10² per 100 ml of water, being human adenovirus 41 the most prevalent serotype between the samples where adenovirus was typified. HAdV were quantified in samples from all 15 surveillance laboratories. Statistical analysis showed no homogeneous linear relation between HAdV and E. coli, intestinal enterococci or somatic coliphages concentrations in the tested samples when considering all the data together. Significant correlations between HAdV and at least one of the other indicators were observed only when data from individual laboratories were considered. The quantification of HAdV may provide complementary information in relation to the use of bacterial standards in the control of water quality in bathing water.     

Comparison of VOC and ammonia emissions from individual PVC materials, adhesives and from complete structures

Emission rates of volatile organic compounds (VOCs) and ammonia measured from six PVC materials and four adhesives in the laboratory were compared to the emission rates measured on site from complete structures. Significantly higher specific emission rates (SERs) were generally measured from the complete structures than from individual materials. There were large differences between different PVC materials in their permeability for VOCs originating from the underlying structure. Glycol ethers and esters from adhesives used in the installation contributed to the emissions from the PVC covered structure. Emissions of 2-ethylhexanol and TXIB (2,2,4-trimethyl-1,3-pentanediol diisobutyrate) were common. High ammonia SERs were measured from single adhesives but their contribution to the emissions from the complete structure did not appear as obvious as for VOCs. The results indicate that three factors affected the VOC emissions from the PVC flooring on a structure: 1) the permeability of the PVC product for VOCs, 2) the VOC emission from the adhesive used, and 3) the VOC emission from the backside of the PVC product.