Prenatal diagnosis of neurofibromatosis type 1: From flanking rflps to intragenic microsatellite markers

Even though the neurofibromatosis type 1 (NF1) gene was cloned more than 3 years ago, the process of identifying mutations has not been fruitful, and genetic counselling is mainly based on the use of linked markers. Since 1990, we have analysed 130 NF1 families and have performed six prenatal diagnoses. In each case, genetic counselling has relied on linked markers and informativity was achieved in all of them. The use of intragenic microsatellite polymorphisms (IVS27AAAT2.1, IVS27AC28.4, IVS27AC33.1, and IVS38GT53.0) has increased the informativeness in our series of NF1 families to an average of 90 per cent, providing accurate diagnosis and confirmation of the disease status.     

Ecosystem management to achieve ecological sustainability: The case of South Florida

The ecosystems of South Florida are unique in the world. The defining features of the natural Everglades (large spatial scale, temporal patterns of water storage and sheetflow, and low nutrient levels) historically allowed a mosaic of habitats with characteristic animals. Massive hydrological alterations have halved the Everglades, and ecological sustainability requires fundamental changes in management.The US Man and the Biosphere Human-Dominated Systems Directorate is conducting a case study of South Florida using ecosystem management as a framework for exploring options for mutually dependent sustainability of society and the environment. A new methodology was developed to specify sustainability goals, characterize human factors affecting the ecosystem, and conduct scenario/consequence analyses to examine ecological and societal implications. South Florida has sufficient water for urban, agricultural, and ecological needs, but most water drains to the sea through the system of canals; thus, the issue is not competition for resources but storage and management of water. The goal is to reestablish the natural system for water quantity, timing, and distribution over a sufficient area to restore the essence of the Everglades.The societal sustainability in the Everglades Agricultural Area (EAA) is at risk because of soil degradation, vulnerability of sugar price supports, policies affecting Cuban sugar imports, and political/economic forces aligned against sugar production. One scenario suggested using the EAA for water storage while under private sugar production, thereby linking sustainability of the ecological system with societal sustainability. Further analyses are needed, but the US MAB project suggests achieving ecological sustainability consistent with societal sustainability may be feasible.     

The application of regenerable sorbents for mercury capture in gas phase

Mercury is a well-known toxic element, and flue gas streams emitted from coal-fired utilities are one of the largest anthropogenic sources of this element. This study briefly reviews the proposed technologies for reducing mercury emissions from coal combustion, focusing on an emerging process which involves the use of regenerable sorbents and especially those loaded with noble metals. Among the mercury species formed during coal combustion, elemental mercury is the most difficult to remove from the flue gases due to its low reactivity and insolubility in water. The widespread interest in using regenerable sorbents with metals is due to their ability to retain elemental mercury. With this technology, not only can efficiencies of 100 % be reached in the retention of elemental mercury but also a way to avoid the generation of new wastes loaded with mercury. This study considers the main aspects that must be taken into account when developing effective regenerable sorbents for mercury capture, with special attention to sorbents containing noble metals. The characteristics of this process are compared with those of other processes in a more advanced state of development.     

The exposition of a calcareous Mediterranean soil to toxic concentrations of Cr, Cd and Pb produces changes in the microbiota mainly related to differential metal bioavailability

The involvement of the bacterial community of an agricultural Mediterranean calcareous soil in relation to several heavy metals has been studied in microcosms under controlled laboratory conditions. Soil samples were artificially polluted with Cr(VI), Cd(II) and Pb(II) at concentrations ranging from 0.1 to 5000 mg kg⁻¹ and incubated along 28 d. The lowest concentrations with significant effects in soil respirometry were 10 mg kg⁻¹ Cr and 1000 mg kg⁻¹ Cd and Pb. However, only treatments showing more than 40% inhibition of respirometric activity led to significant changes in bacterial composition, as indicated by PCR-DGGE analyses. Presumable Cr- and Cd-resistant bacteria were detected in polluted microcosms, but development of the microbiota was severely impaired at the highest amendments of both metals. Results also showed that bioavailability is an important factor determining the impact of the heavy metals assayed, and even an inverted potential toxicity ranking could be achieved if their soluble fraction is considered instead of the total concentration. Moreover, multiresistant bacteria were isolated from Cr-polluted soil microcosms, some of them showing the capacity to reduce Cr(VI) concentrations between 26% and 84% of the initial value. Potentially useful strains for bioremediation were related to Arthrobacter crystallopoietes, Stenotrophomonas maltophilia and several species of Bacillus.     

Effects of concentrated drinking water injection on glutathione and glutathione-dependent enzymes in liver of Cyprinus carpio L

Two drinking water production plants located in North Italy, collecting water from the River Po (Plants 1 and 2) were chosen for this study. Water samples were collected before and after the disinfection process and at two points along the piping system. Water samples were concentrated by the solid-phase extraction system and injected intraperitoneally into specimens of Cyprinus carpio. The concentration of water samples was 3 l/equiv. In order to assess the effects of the water samples on carp liver, total glutathione and glutathione-dependent enzymes, such as glutathione S-transferase, glutathione peroxidase, glutathione reductase and glyoxalase I, were measured following this treatment for 6 days at two experimental times (3 and 6 days). Both water plant-treated carp showed a general increase of the enzymatic activities of glutathione S-transferase, and glutathione reductase which might be employed as potential biomarkers of oxidative stress induced by disinfected river water. Plant 1-treated carp showed higher glyoxalase I and glutathione levels and lower glutathione peroxidase activity. A depleted level of total glutathione and of glyoxalase I for specimens of water plant 2 (for both experimental times), without correlation with the distances in the pipeline, suggests that river plant water can also lead to potentially adverse effects on selected biochemical parameters in C. carpio.     

Effects of a selenium-enriched diet on antioxidant response in adult crayfish (Procambarus clarkii)

Many diets employed in aquaculture are enriched with selenium to improve the diet quality and its conservation. The aim of the study was to investigate the effects of a diet enriched in selenium (1.21 mg kg(-1)) on the antioxidant response of Procambarus clarkii (Girard, 1852). Crayfish fed a diet with lower selenium content (0.30 mg kg(-1)) were the control. Selenium accumulation, enzymatic activities, and total glutathione were evaluated in hepatopancreas of adults of both sexes fed with both diets for 50 days at two experimental times (T(30), T(50) days). Treated females exhibited the highest selenium bioaccumulation during both experimental times, while treated males displayed the highest selenium concentration after 30 days, compared to control crayfish. A sex-related difference was found for the response of the analyzed enzymes in the selenium diet-treated specimens. In fact, superoxide dismutase, glutathione peroxidase and glyoxalase I activities in males were more sensitive compared with females, showing depleted activities in both experimental times. Catalase activity was induced in females (T(50)), while glutathione S-transferase activity was the highest in treated females and the lowest in treated males, compared with own controls. Only glutathione reductase activity and glutathione content showed the same trend in both sexes, which were both lowered in treated specimens, when compared with control crayfish. This result might be due to the effect of selenium toxicity on this freshwater species. Males and females of P. clarkii showed a different susceptibility to the prooxidant effects in a Se-enriched diet.     

The use of the removable thin film coating technique as an alternative to traditional decontamination methods to mitigate and abate hazardous particulates

This article summarizes a study that evaluated a new decontamination technique for the mitigation and abatement of hazardous dust and particulates. Traditional decontamination methods are time‐consuming, expensive, can create airborne hazards, and do not always bring the concentration of the contaminant to acceptable levels. The use of the removable thin film coating will increase efficiency, will not generate airborne hazards, will decrease costs, and, with one application, will bring the hazardous dust concentrations to acceptable levels. Qualitative tests demonstrated that the removable thin film coating reduced the amount of visible luminescent dust (a surrogate for hazardous dust) from various surfaces. It also indicated that wherever there were minute scratches, the coating did not remove all of the dust. However, the qualitative tests showed that this decontamination method worked well as a preventative method, protecting clean areas from becoming contaminated when exposed to the luminescent dust. Further investigation was conducted using a scanning electron microscope (SEM) and carbon dust. Overall, the SEM experiment demonstrated that there was a statistically significant (p = 0.00007) removal of carbon dust (less than 10 μm in size) from surfaces with crevasses larger than 3 μm. The SEM also revealed that there were some limitations where there were large clusters of carbon dust; in these instances, the coating would tear and remain on the sample surface. One method to resolve this limitation involved adding Kevlar^TM fibers to the removable thin film coating. It was thought that this would increase the strength of the coating and eliminate the coating from tearing when removing large clusters of a contaminant. Unfortunately, this did not alleviate the issue. The use of an engineered textile, saturated with the coating, appeared to eliminate the problem with the coating not being able to remove the contaminant from the minute surface scratches and improved the removal process of the coating. © 2008 Wiley Periodicals, Inc.     

Speciation of Cr and its leachability in coal by-products from spanish coal combustion plants

This study evaluates the behaviour of total Cr and Cr (VI) during coal combustion in two Spanish power stations. The content and distribution of Cr in the feed coal and combustion wastes was determined and the Cr contents were normalized using enrichment factor indexes. The speciation of Cr in the fly ash fractions from the different hoppers of the electrostatic precipitators was established and the possibility that the Cr (VI) might lixiviate when ashes are disposed of at landfill sites was assessed. Differences in the distribution and behavior of Cr in the two power stations were observed. According to European directive 1999/31/CEE, soluble Cr(VI) in the fly ashes studied would be unlikely to pose an environmental or health risk when the ash is disposed of.