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.     

Isotope tracing of submarine groundwater discharge offshore Ubatuba, Brazil: results of the IAEA–UNESCO SGD project

Results of groundwater and seawater analyses for radioactive (³H, ²²²Rn, ²²³Ra, ²²⁴Ra, ²²⁶Ra, and ²²⁸Ra) and stable (D and ¹⁸O) isotopes are presented together with in situ spatial mapping and time series ²²²Rn measurements in seawater, direct seepage measurements using manual and automated seepage meters, pore water investigations using different tracers and piezometric techniques, and geoelectric surveys probing the coast. This study represents first time that such a new complex arsenal of radioactive and non-radioactive tracer techniques and geophysical methods have been used for simultaneous submarine groundwater discharge (SGD) investigations. Large fluctuations of SGD fluxes were observed at sites situated only a few meters apart (from 0 cm d⁻¹ to 360 cm d⁻¹; the unit represents cm³/cm²/day), as well as during a few hours (from 0 cm d⁻¹ to 110 cm d⁻¹), strongly depending on the tidal fluctuations. The average SGD flux estimated from continuous ²²²Rn measurements is 17 ± 10 cm d⁻¹. Integrated coastal SGD flux estimated for the Ubatuba coast using radium isotopes is about 7 × 10³ m³ d⁻¹ per km of the coast. The isotopic composition (δD and δ¹⁸O) of submarine waters was characterised by significant variability and heavy isotope enrichment, indicating that the contribution of groundwater in submarine waters varied from a small percentage to 20%. However, this contribution with increasing offshore distance became negligible. Automated seepage meters and time series measurements of ²²²Rn activity concentration showed a negative correlation between the SGD rates and tidal stage. This is likely caused by sea level changes as tidal effects induce variations of hydraulic gradients. The geoelectric probing and piezometric measurements contributed to better understanding of the spatial distribution of different water masses present along the coast. The radium isotope data showed scattered distributions with offshore distance, which imply that seawater in a complex coast with many small bays and islands was influenced by local currents and groundwater/seawater mixing. This has also been confirmed by a relatively short residence time of 1–2 weeks for water within 25 km offshore, as obtained by short-lived radium isotopes. The irregular distribution of SGD seen at Ubatuba is a characteristic of fractured rock aquifers, fed by coastal groundwater and recirculated seawater with small admixtures of groundwater, which is of potential environmental concern and has implications on the management of freshwater resources in the region.     

Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Removal and desorption of chromium in synthetic effluent by a mixed culture in a bioreactor with a magnetic field

Two chromium removal experiments were performed in bioreactors with and without a magnetic field under the same conditions.The release of the chromium present in the biomass was tested in two experiments one with the initial pH of the medium and one with pH 4.0.The objective was to remove Cr(Ⅵ) and total Cr from the effluent,this was carried out by placing biological treatments of synthetic effluent contaminated with 100 mg/L of Cr(Ⅵ) in a bioreactor with neodymium magnets that applied a magnetic field(intensity85.4 mT) to the mixed culture.The removal of Cr(Ⅵ) was approximately 100.0% for the bioreactor with a magnetic field and 93,3% for the bioreactor without a magnetic field for9 hr of recirculation of the synthetic effluent by the bioreactor.The removal of total Cr was61.6% and 48.4%,with and without a magnetic field,respectively;for 24 hr.The desorption of Cr(VI) in the synthetic effluent was 0.05 mg/L,which is below the limit established by Brazilian legislation(0.1 mg/L) for the discharge of effluent containing Cr(Ⅵ) into bodies of water.The results obtained for the removal of chromium in synthetic effluent suggested that there was no significant influence on the viable cell count of the mixed culture.The desorption of Cr(Ⅵ) in synthetic effluent after bioadsorption of chromium by the mixed culture in the process of removal of chromium in bioreactors with and without a magnetic field was not significant in either of the experiments with different initial pHs.     

Discrete event simulation to aid decision-making and mitigation in solid waste management

This article aims to evaluate municipal solid waste (MSW) management schemes in order to promote sustainability and eco-efficiency, core elements in global mitigation strategies in both public and private policies. A discrete event simulation (DES) approach was used to integrate the economic, environmental, and social aspects related to aseptic carton packages (ACP) in Itajuba, Brazil. The simulated scenarios consider three alternatives for disposing ACP: landfills, recycling, and incineration with energy recovery. According to our findings, incineration alternatives are preferred from an eco-efficiency perspective, given the potential greenhouse gas (GHG) emissions reductions and due to the possibility of energy recover, which reinforces the contribution of this technology to promote sustainability as largely found in the international literature. Given the context of MSW management in Brazil, this represents a significant opportunity to increase the effectiveness of mitigation strategies adopted in the country. Taking into account that this is by far the least applied technology, the authors strongly advocate that global strategies for mitigation consider different approaches to integrate carbon dioxide (CO₂) emission reductions related to the entire MSW management system and its alternatives, thus advancing from a waste disposal-oriented system to a life cycle–oriented system.

     

Chemically mediated interactions between the red algaPlocamium hamatum (Rhodophyta) and the octocoralSinularia cruciata (Alcyonacea)

Interactions between the red algaPlocamium hamatum J. Agardh (Rhodophyta) and other benthic organisms including the alcyonacean soft coralSinularia cruciata (Tixier-Durivault) were investigated on an inshore fringing reef environment in whichP. hamatum was the dominant large fleshy alga. Field observations of sessile reef organisms including octocorals and sponges living in close proximity toP. hamatum revealed that varying degrees of tissue necrosis were suffered by the invertebrates when in physical contact with the alga. In order to establish whether the chemical constituents of the alga, especially chloromertensene, played a role in this necrosis, manipulative field experiments were carried out in the Pelorus Channel, Palm Island group (18°34S; 146°29E), North Queensland, Australia, in November and December 1988. The first experiment involved the relocation of healthy plants and soft corals into contact and non-contact situations on a mesh grid. In all cases of contact betweenP. hamatum andS. cruciata, the soft coral suffered tissue necrosis (n=6,p=0.0022). The second experiment had the same design, but involved the use of artificial plants both uncoated and coated with natural levels of chloromertensene, in contact withS. cruciata. In all cases of contact with coated treatments, necrosis was observed inS. cruciata (n=4,p=0.025). In cases where uncoated artificial fronds were placed in contact with soft corals,S. cruciata showed minor abrasion effects, but no appreciable necrosis. Coated treatments were not fouled by epiphytes during the experiment and were not consumed by predators. Uncoated treatments were rapidly reduced in size by predation and any remaining material was biofouled. These experiments thus demonstrated that the deleterious effects observed in soft corals in the field were caused by contact with the algaP. hamatum, that these effects were indeed chemically mediated by chloromertensene, and that physical contact without chemical intervention caused no such deleterious effects. This is the first experimental evidence which conclusively demonstrates allelopathy between an alga and other marine organisms and identifies the compound responsible for the observed allelopathic effects.     

Disappearance of bromopropylate residues in artichokes, strawberries and beans

Residues of Bromopropylate were determine in artichokes, strawberries and beans after foliar spray of acaricide at two rates. The rates used were 1 g/l formulated product (normal recommended) and 1.5 g/l. The residue levels of bromopropylate in the three crops after 14 days were lower than 0.7 ppm and did not exceed the Maximum Residual Level (MRL) recommended by FAO. In the artichokes and strawberries, the total concentration of residues decreased by 50% of the initial level after 2-3 days. Only trace levels of the bromopropylate residues (less than 0.01 ppm) were detected in the "hearts" of the artichokes. Bromopropylate residues in the green beans were also less than 0.8 ppm after the first day of foliar spraying. The kinetic of degradation occurred in two different steps. In the first step (4-6 days) the dissipation of bromopropylate was faster whereas in the second step (7-14 days) the loss of residues was much slower.     

A modular approach to Integrated Assessment modeling

In this paper, we present a new approach to model coupling that probably forms the methodological basis of a new generation of Integrated Assessment models. This approach respects the knowledge and expertise that is embodied in existing models and encourages their gradual evolution. Modularity is the guiding principle. Our approach is distinguished by the way modules are coupled which is based on an interplay of a job control module, a numerical coupling module, and a couple of stand-alone functional modules. The numerical coupling module - the core component - serves to treat the feedbacks between the functional modules. A first implemented example that couples an economic and a climate module by means of a two-phase meta-optimization is presented here. The algorithm and mathematical structure behind are discussed as well as important features such as convergence behavior and reliability.