Littoral diatoms as indicators of recent water and sediment contamination by metals in lakes

We studied the response of benthic diatoms to recent metal contamination in littoral cores collected at 25 sites in 11 lakes situated at different distances from a smelter in the Rouyn-Noranda mining region (Quebec). Diatom response was described in terms of density, diversity, and taxonomic composition of the entire assemblages and as abundance of individual indicator taxa. Metal concentrations were measured in sediment and in the overlying water (as total dissolved and as free-ions). Sediment metal contamination was significantly higher in lakes located <10 km from the smelters than in lakes farther away. Such difference was not significant when metal concentrations in the overlying water were considered. Metal contamination did not affect diatom density, which indeed was highest in the most contaminated lake. Diversity (either measured as number of taxa or as Shannon and evenness indices) was instead significantly higher in lakes close to the smelter than elsewhere. Redundancy analysis indicated that diatom composition changed along a gradient in alkalinity (CO?) and one in sediment metal contamination (Cd, Hg, Cu). We identified three diatom taxa (Fragilaria construens var. venter, F. construens var. pumila, and Brachysira vitrea) that increased in relative and absolute abundance with metal contamination. Benthic diatom responses at the community (density, diversity, assemblage composition) and population levels (abundance of selected benthic taxa) were stronger to the sediment metal contamination than to the contamination of overlying water. Comparisons with available literature indicated that, for monitoring recent sediment contamination, diatoms in littoral sediments are preferable to invertebrates that mostly respond to overlying water. Diatoms in littoral cores are therefore unique as tools for monitoring recent contamination of lake sediments.     

A new method for the characterisation and quantitative speciation of base metal smelter stack particulates

Base metal smelters may be a source of particulates containing metals of environmental concern released to the atmosphere. Knowledge of the quantitative chemical speciation of particulate releases from base metal smelters will be of value in smelter emission fingerprinting, site-specific risk assessments, predictions of the behaviour of smelter stack particulates released to the environment and in resolving liability issues related to current and historic releases. Accordingly, we have developed an innovative approach comprising bulk chemical analysis, a leaching procedure, X-ray diffraction analysis and scanning electron microscopy/electron probe microanalysis characterisation in a step-wise apportioning procedure to derive the quantitative speciation of particulate samples from the stacks of three copper smelters designated as A, B and C. For the A smelter stack particulates, the major calculated percentages were 29 CuSO₄, 20 ZnSO₄.H₂O, 13 (Cu_0.94Zn_0.06)₂(AsO₄)(OH), 11 PbSO₄ and four As₂O₃. For the B smelter stack particulates, the primary calculated percentages were 20 ZnSO₄.H₂O, 20 PbSO₄, 12 CuSO₄ and nine As₂O₃. Finally, we calculated that the C smelter stack particulates mostly comprised 34 ZnSO₄.H₂O, 19 (Cu_0.84Zn_0.16)(AsO₃OH), 11 PbSO₄, 10 As₂O₃ and nine Zn₃(AsO₄)₂. Between 56% and 67% by weight of the smelter stack particulates, including the As, was soluble in water. For these and other operations, the data and approach may be useful in estimating metals partitioning among water, soil and sediment, as well as predictions of the effects of the stack particulates released to the environment.     

Is fetal gender a risk factor for severe congenital cytomegalovirus infection?

Cytomegalovirus is the main cause of congenital viral infection and amniotic fluid viral load appears to be the single nonclinical prognostic factor. However, as in other infectious diseases, host genetics may influence the severity of the disease. To test this hypothesis, we looked retrospectively at the fetal gender in cases of severe congenital cytomegalovirus infection in our database. We also analyzed the international English literature covering this subject between 1985 and 2003. The proportion of females with brain abnormalities was statistically different from that of males (62/258: 24% vs 30/251: 12%, p = 0.004). The risk of abnormal brain development in infected fetuses was twice as high in females than in males (Chi² = 8.7; OR = 2, IC [1.26–3.21]). In our cases, amniotic fluid CMV DNA load was not significantly higher in males than in females (p = 0.06) and was also similar in severely and non-severely infected fetuses (p = 0.09). Copyright © 2005 John Wiley & Sons, Ltd.     

First-trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three-dimensional ultrasound

To illustrate the three-dimensional sonographic features of a rare genetic disorder, we report on prenatal diagnosis of osteogenesis imperfecta congenita associated with encephalocele at 13 weeks of gestation, using conventional and three-dimensional ultrasound. Because the parents were first-degree cousins and on the basis of the family history, a recessive autosomal inheritance was suspected. Of seven previous pregnancies, five were unaffected and two had been terminated in the second trimester owing to a similar abnormality (one affected boy and one affected girl). In the case we present, the diagnosis was made on the basis of two-dimensional ultrasound performed by physicians aware of the history; the quality of three-dimensional ultrasound imaging suggests that this technique might have contributed toward establishing a precise diagnosis in the absence of a positive family history. Besides, the global view provided by three-dimensional surface-rendering images made the parents more confident of the accuracy of the diagnosis. Although osteogenesis imperfecta congenita is generally considered as autosomal dominant, the case we report suggests that it may be inherited in a recessive autosomal fashion at least when associated with encephalocele. Three-dimensional ultrasound confirmed the conventional two-dimensional examination and was helpful in convincing the parents of the accuracy of the diagnosis. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of respiratory chain deficiency by direct mutation screening

Respiratory chain deficiency (RCD) is responsible for a clinically heterogeneous group of early-onset untreatable disorders. Enzymological prenatal diagnosis (PD) can only be offered to a fraction of families. Moreover, due to the two-fold genetic origin of the respiratory chain (nuclear and mitochondrial DNA) and owing to the large number of nuclear genes involved in the respiratory chain assembly, maintenance and functioning, the identification of the disease causing gene in a given family remains challenging. Here, we report on PD of RCD by direct screening of NDUFV1, SDH-Fp, SCO1 and SURF1 mutations in five unrelated families with complex I, II and IV deficiency, respectively. The identification of the disease-causing gene in a given family with RCD is a major issue to provide both adequate genetic counselling and early, reliable PD. Copyright © 2001 John Wiley & Sons, Ltd.     

Ecological tracers and at-sea observations document the foraging ecology of southern long-finned pilot whales (<Emphasis Type="Italic">Globicephala melas edwardii</Emphasis>) in Kerguelen waters

The food and feeding ecology of the poorly known southern long-finned pilot whale (Globicephala melas edwardii) was investigated using ecological tracers (muscle and skin δ¹³C and δ¹⁵N, and total mercury, Hg) on individuals from two mass strandings together with at-sea observations of live animals in Kerguelen waters, southern Indian Ocean. Sightings of cetaceans from longliners over 9 years (2003–2012) emphasized the regular occurrence of pilot whales in slope waters surrounding the archipelago. Tissue δ¹³C values (a proxy of consumer foraging habitat) suggest that pilot whales fed in slope waters and in oceanic subantarctic waters over the last months preceding stranding. Tissue δ¹⁵N values and Hg concentration (dietary proxies) indicate a high trophic position (~4.7) for the pilot whales, likely corresponding to a mixed diet of fish and squid (not crustaceans) of undetermined species. Both skin and muscle Hg concentrations were positively and linearly correlated to individual size with no concomitant δ¹⁵N changes, which can be interpreted as a progressive Hg accumulation in tissues of individuals throughout life with no parallel dietary shift. Skin and muscle Hg concentrations were linearly and positively related; hence, Hg skin could be used as a proxy of Hg concentration in muscle (a main Hg reservoir of the body). Kerguelen southern long-finned pilot whales were less Hg contaminated than most pilot whale populations studied so far, thus suggesting that they are not at a high risk to Hg-induced damages in the remote islands of the Southern Ocean.     

Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21

Objective To investigate the involvement of the genes encoding for COL6A1, COLA2 and super-oxide dismutase (SOD) in the mechanism for the retention of subcutaneous fluid in fetuses with trisomy 21. Methods During a 7-month period (November 2004–May 2005), human fetal skin from the nuchal region was obtained from euploid fetuses and from fetuses with trisomy 21 following abortions and terminations of pregnancy. Cell cultures were performed from nuchal skin. Quantification of COL6A1, COL6A2, COL6A3 and SOD mRNAs were performed using real-time quantitative RT-PCR. Results Twelve fetuses were studied between 13–15 and 19–20 weeks of gestation including 7 cases of trisomy 21. A significant overexpression of genes of interest was demonstrated in trisomy 21 fetuses when compared with euploid fetuses, in the first and in the second trimester of pregnancy (p < 0.0001). Conclusion This study demonstrates a homogeneous overexpression of the genes encoding for α1 and α2 chains of Collagen type VI, and SOD in nuchal skin of human trisomy 21 fetuses. Persistence of this overexpression in the second trimester of pregnancy, despite the absence of an enlarged nuchal translucency (NT), may characterize some compensatory mechanisms. Copyright © 2007 John Wiley & Sons, Ltd.