Low or absent unconjugated estriol in pregnancy: an indicator for steroid sulfatase deficiency detectable by fluorescence in situ hybridization and biochemical analysis

It has been previously reported that a low or absent maternal serum unconjugated estriol (uE3) level is associated with placental steroid sulfatase (STS) deficiency. Here we report a correlation between patients who present with a very low or absent maternal serum uE3 and a deletion of the STS gene as assessed by fluorescence in situ hybridization (FISH). We studied nine prenatal cases that presented to the clinical laboratory with an abnormal triple screen, specifically low or absent maternal serum uE3 and a 46,XY karyotype. FISH analysis showed complete deletion of a probe containing the STS gene in six cases and one case had a partial deletion (reduced but not absent signal). The remaining two cases were not deleted for the STS probe. All mothers tested whose fetus showed a deletion were shown to be STS deletion carriers using FISH. Biochemical analysis was performed on 7/9 prenatal specimens. All fetuses deleted for the STS probe were also found to be deficient for STS by biochemical analysis of cultured amniotic fluid (5/5). Of the two fetuses not deleted for the STS probe, one was deficient for STS activity, while the other had a normal result. The abnormal result of enzyme deficiency by biochemical analysis in a non-deletion case likely represents a mutation in the STS gene, not detectable by this FISH assay. Postnatal FISH confirmation of the STS deletion was performed in 1/7 cases. Clinical follow-up was available for 4/9 cases following birth. Copyright © 2002 John Wiley & Sons, Ltd.     

Effect of Dye Additives on Photodimerization of Thymine Pendant Groups in Water-soluble Photoresist Polymers

The short wavelength UV-induced photocrosslinking of vinylbenzylthymine (VBT) based photoresist polymers was investigated in a polymer-dye water soluble system. The goal of the study was to determine whether the presence of UV-absorbing dye additives would prevent the photocrosslinking from occurring. It was found that the photoreactivity of the VBT polymer was not hindered significantly even when the amount of dye additive was comparable to the amount of thymine. Further, adding dyes to the photoresist allowed obtaining good quality images in one step. This study may provide a basis for testing VBT-containing polymers for use in controlled release applications.     

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright © 2001 John Wiley & Sons, Ltd.     

Variables influencing growth and morphology of colonies of cells from human amniotic fluid

Growth of cells from amniotic fluid was studied with respect to cell concentration in the inoculum, blood contamination of the fluid, fluid colour, fluid clarity, gestational age of the pregnancy, and growth factors. Dependent variables measured were colony formation, colony size, and colony morphology after 7, 11, and 14 days of culture. The following conclusions were established from these studies: small sample volumes are the most efficient for producing colonies; cells from very bloody or dark brown fluids have a slower rate of growth; growth of cells from cloudy (noncontaminated) fluids is better than growth of cells from clear fluids; the proportion of colonies that are epithelioid varies with gestational age; the stimulating effect of 100 ng/ml fibroblast growth factor on cells from amniotic fluid was confirmed.     

Permanganate oxidation of polycyclic aromatic compounds (PAHs and polar PACs): column experiments with DNAPL at residual saturation

Environmental Science and Pollution Research - Permanganate is an oxidant usually applied for in situ soil remediation due to its persistence underground. It has already shown great efficiency for...     

Elaboration of a Bio-Colored Material Based on Natural Dye and Polybutylene Succinate: Comparative Study with Colored Polylactic Acid

Journal of Polymers and the Environment - In the context of sustainable development and natural products valorization, new ecological materials enter a logic aimed at removing the causes of...     

Nitrogen Removal by Stormwater Management Structures: A Data Synthesis

A comprehensive synthesis of data from empirically based published studies and a widely used stormwater best management practice (BMP) database were used to assess the variability in nitrogen (N) removal performance of urban stormwater ponds, wetlands, and swales and to identify factors that may explain this variability. While the data suggest that BMPs were generally effective on average, removal efficiencies of ammonium (NH₄), nitrate (NO₃), and total nitrogen (TN) were highly variable ranging from negative (i.e., BMPs acting as sources of N) to 100%. For example, removal of NO₃ varied from (median ±1 SD) ?15 ± 49% for dry ponds, 32 ± 120% for wet ponds, 58 ± 210% for wetlands, and 37 ± 29% for swales. Across the same BMP types, TN removal was 27 ± 24%, 40 ± 31%, 61 ± 30%, and 50 ± 29%. NH₄ removal was 9 ± 36%, 29 ± 72%, 31 ± 24%, and 45 ± 34%. BMP size, age, and location explained some of the variability. For example, small and shallow ponds and wetlands were more effective than larger, deeper ones in removing N. Despite well‐known intra‐annual variation in N fluxes, most measurements have been made over short time periods using concentrations, not flow‐weighted N fluxes. Urban N export is increasing in some areas as large storms become more frequent. Thus, accounting for the full range of BMP performance under such conditions is crucial. A select number of long‐term flux‐based BMP studies that rigorously measure rainfall, hydrology, and site conditions could improve BMP implementation.     

‘Natural’ disaster? A retrospect into the causes of the late-2004 typhoon disaster in Eastern Luzon,Philippines

Between 14 November and 4 December 2004, four successive tropical depressions and typhoons lashed the Eastern coast of Luzon in the Philippines. Heavy rainfall triggered massive landslides and devastating flash floods, which brought tremendous damage and killed more than 1600 people. Immediately after the disaster, there was a media and political consensus to incrimate ‘extraordinary’ natural phenomena and widespread deforestation as responsible for the catastrophe. We argue that the tragedy that befell the municipalities of General Nakar, Infanta and Real, among other devastated areas, is enmeshed in a deeper tangle of causal factors that are political, socio-economic and demographic in nature. These factors include unmanaged population growth, difficult access to land and resources, corruption within the government, and power of the elite.     

A Critical Appraisal of Field Evidence From A Regional Survey for Acid Deposition Effects On Scottish Moorland Podzols

Samples have been collected from major horizons of 34 podzol profiles distributed throughout Scotland, all developed from granite or granitic tills and under Calluna moorland. the pH in water and calcium chloride pastes, exchangeable cations and cation exchange capacity, and extractable aluminium of the soils collected have been measured, and the results studied in relation to reported atmospheric deposition of H⁺, non-marine sulphur and nitrate. for all horizons, significant positive correlations were found between soil pH and rainfall mean pH, as might be expected when the critical load of H⁺ deposition is exceeded. Acidifying pollutant deposition also apparently increased soil extractable aluminium concentrations in the B and C horizons. However, exchangeable base cation concentrations tended to increase, rather than decrease, with increasing precipitation acidity. This effect was attributed to increases in biogeochemical cycling of base cations, increases in leaching inputs of base cations from overlying A/E horizon soils, and increases in the inputs of base cations leached from upslope. the results suggest that the simple steady state mass approach to the quantification of critical loads, as often applied, may be an oversimplification.     

A Comparison of the Short-Term Dynamics of Soil “Damage” Due to Enhanced Nitrogen Deposition As Ammonium Sulphate Or Nitric Acid

An experiment has been conducted to contrast the effects of enhanced oxidised and reduced nitrogen deposition upon key chemical parameters in a Calluna moorland podzol. A 40 cm deep podzol profile, derived from granite, was reconstructed in one hundred 4.2 cm diameter cores. for 20 weeks, the cores were subjected twice weekly to simulated rainfall containing either twice ambient nitrogen deposition in Aberdeen, or further enhanced nitrogen (further 2- and 6-fold increases) as nitric acid or ammonium sulphate. to quantify the dynamics of soil change in each horizon, randomly selected cores were destructively analysed every two weeks and the soils analysed. Increased nitrogen inputs, regardless of form, substantially and immediately reduced surface soil pH_water via the mobile anion or salt effect. for the higher nitrogen treatments, the pH reduction was seen throughout the profile. Longer term soil acidification was also seen in the pH_{calcium chloride} results over the 20 weeks. at a given nitrogen deposition rate, the effects of ammonium sulphate and nitric acid on soil pH_{calcium chloride} were similar. the ammonium sulphate treatments were especially effective at reducing base saturation throughout much of the profile, the direct base cation leaching being associated with substantial ammonium accumulation. the results suggest that the direct base cation leaching caused by ammonium deposition needs to be considered when assessing atmospheric pollution “damage” to heathland soils.