Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Role of the floodplain lakes in the methylmercury distribution and exchanges with the Amazon River, Brazil

Seasonal variability of dissolved and particulate methylmercury(F-MeHg, P-MeHg) concentrations was studied in the waters of the Amazon River and its associated Curuai floodplain during hydrological year 2005–2006, to understand the MeHg exchanges between these aquatic systems. In the oxic white water lakes, with neutral pH, high F-MeHg and P-MeHg concentrations were measured during the rising water stage(0.70 ± 0.37 pmol/L, n = 26) and flood peak(14.19 ± 9.32 pmol/g, n = 7) respectively, when the Amazon River water discharge into the lakes was at its maximum. The lowest mean values were reported during the dry season(0.18 ± 0.07 pmol/L F-MeHg, n = 10 and 1.35 ± 1.24 pmol/g P-MeHg, n = 8), when water and suspended sediments were outflowing from the lakes into the River. In these lakes,the MeHg concentrations were associated to the aluminium and organic carbon/nitrogen changes. In the black water lakes, with acidic pH and reducing conditions, elevated MeHg concentrations were recorded(0.58 ± 0.32 pmol/L F-MeHg, n = 16 and 19.82 ± 15.13 pmol/g PMeHg, n = 6), and correlated with the organic carbon and manganese concentrations. Elevated values of MeHg partition coefficient(4.87 Kd 5.08 log(L/kg) indicate that MeHg is mainly transported associated with the particulate phase. The P-MeHg enrichment detected in all lakes suggests autochthonous MeHg inputs from the sediments into the water column. The MeHg mass balance showed that the Curuai floodplain is not the source of P-MeHg for the Amazon River.     

Investigations into the differential reactivity of endogenous and exogenous mercury species in coastal sediments

Stable isotopic tracer methodologies now allow the evaluation of the reactivity of the endogenous (ambient) and exogenous (added) Hg to further predict the potential effect of Hg inputs in ecosystems. The differential reactivity of endogenous and exogenous Hg was compared in superficial sediments collected in a coastal lagoon (Arcachon Bay) and in an estuary (Adour River) from the Bay of Biscay (SW France). All Hg species (gaseous, aqueous, and solid fraction) and ancillary data were measured during time course slurry experiments under variable redox conditions. The average endogenous methylation yield was higher in the estuarine (1.2 %) than in the lagoonal sediment (0.5 %), although both methylation and demethylation rates were higher in the lagoonal sediment in relation with a higher sulfate-reducing activity. Demethylation was overall more consistent than methylation in both sediments. The endogenous and exogenous Hg behaviors were always correlated but the exogenous inorganic Hg (IHg) partitioning into water was 2.0–4.3 times higher than the endogenous one. Its methylation was just slightly higher (1.4) in the estuarine sediment while the difference in the lagoonal sediment was much larger (3.6). The relative endogenous and exogenous methylation yields were not correlated to IHg partitioning, demonstrating that the bioavailable species distributions were different for the two IHg pools. In both sediments, the exogenous IHg partitioning equaled the endogenous one within a week, while its higher methylation lasted for months. Such results provide an original assessment approach to compare coastal sediment response to Hg inputs.     

A comparison of results from two test methods for assessing the toxicity of aminotriazole to Selenastrum capricornutum

Two different test methods for assessing the toxicity of aminotriazole to Selenastrum capricornutum are compared. Growth medium composition is demonstrated to have a significant effect on the toxicity of aminotriazole.     

Physical structure of lakes constrains epidemics in Daphnia populations

Parasites are integral parts of most ecosystems, yet attention has only recently focused on how community structure and abiotic factors impact host-parasite interactions. In lakes, both factors are influenced by habitat morphology. To investigate the role of habitat structure in mediating parasitism in the plankton, we quantified timing and prevalence of a common microparasite (Metschnikowia bicuspidata) in its host, Daphnia dentifera, in 18 lakes that vary in basin size and shape. Over three years, we found substantial spatial and temporal variation in the severity of epidemics. Although infection rates reached as high as 50% in some lakes, they did not occur in most lakes in most years. Host density, often considered to be a key determinant of disease spread, did not explain a significant amount of variation in the occurrence of epidemics. Furthermore, host resistance does not fully explain this parasite's distribution, since we easily infected hosts in the laboratory. Rather, basin shape predicted epidemics well; epidemics occurred only in lakes with steep-sided basins. In these lakes, the magnitude of epidemics varied with year. We suggest that biological (predation) and physical (turbulence) effects of basin shape interact with annual weather patterns to determine the regional distribution of this parasite.     

Comparative study of the cadmium and mercury kinetics between the short-lived gastropod Viviparus georgianus (Lea) and pelecypod Elliptio complanata (Lightfoot), under laboratory conditions

A laboratory study of the cadmium and mercury accumulation and elimination kinetics was conducted on the pelecypod Elliptio complanata (Lightfoot) and the short-lived gastropod Viviparus georgianus (Lea), according to age-classes. Preliminary results (metal concentration vs time of exposure) have demonstrated that uptake of Cd and Hg, in the two molluscs studied, follow a biphasic pattern, whereby a steady state is reached after approximately 16 days' exposure and then accumulation increases again for the rest of exposure period. The elimination of the two metals is also characterized in a biphasic way: fast excretion for the first four days followed by a slower depuration for the rest of exposure time. A two-compartment bioaccumulation model has been used to described the different kinetic parameters: (1) the rate constant for depuration; (2) the rate constant for uptake; (3) the theoretical bioconcentration factor extrapolated to steady-state conditions; and (4) the biological half-life of the metals.     

Mercury in surface waters of a macrotidal urban estuary (River Adour, south-west France)

Surface waters were collected in the River Adour estuary (south-western France) during different sampling periods from 1998 to 2001 in order to investigate the phase distribution and speciation of methylmercury (MeHg⁺). Although a high variability is observed, significant higher average concentrations of total MeHg⁺ (dissolved and particulate) are measured during the warm seasons, at 4.40±8.18 pM and 3.90±1.87 pM for July 1998 and September 1999, compared with the winter seasons, with concentrations at 0.99±2.85 pM and 1.00±1.75 pM for February 1998 and February 2001, respectively (one-tailed t-test, P=0.01). The seasonal variations are explained with enhanced bacterial activity during summer and sedimentation/resuspension phenomena. Additionally, signi-ficant longitudinal variations of the MeHg⁺ concentrations are observed. The highest levels in both dissolved and particulate fractions are found within the downstream urban estuarine area. This can be explained by the high methylation potential of the sediments, but direct anthropogenic inputs of MeHg⁺ from specific discharge points cannot be neglected. Biogeochemical factors like phytoplankton biomass and salinity also show a relationship with MeHg⁺ partitioning in the surface waters of the Adour estuary.