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.     

Mobility of heavy metals from polluted sediments of a semi-enclosed basin: in situ benthic chamber experiments in Taranto’s Mar Piccolo (Ionian Sea,Southern Italy)

In situ benthic flux experiments were conducted at two stations in the Mar Piccolo of Taranto (Italy), one of the most industrialised and contaminated coastal areas of the Mediterranean. Sediments of the two stations are notably different in their trace metal content, with a station closer to a Navy harbour showing higher mean concentrations of almost all investigated metals (Al, As, Cd, Cr, Cu, Fe, Hg, Mn, Ni, Pb, V and Zn). Conversely, both stations are characterised by significant Hg contamination, compared to the local baseline. Results of a sequential extraction scheme on surface sediments suggest a relatively scarce mobility of the examined metals (Zn > Ni > Cr > As > Cu > Pb). A Hg-specific extraction procedure showed that most of the element (93.1 %) occurs in a fraction comprising Hg bound to Fe/Mn oxi-hydroxides. Reduction of these oxides may affect Hg remobilisation and redistribution. Porewater profiles of dissolved trace metals were quite similar in the two sites, although significant differences could be observed for Al, Cu, Fe and Hg. The highest diffusive fluxes were observed for As, Fe and Mn. Mobility rates of several trace elements (Al, As, Cd, Cr, Cu, Fe, Hg, Mn, Ni, Pb, V and Zn) were directly measured at the sediment–water interface. Results from benthic in situ incubation experiments showed increasing dissolved metal concentrations with time, resulting in higher fluxes for Cu, Fe, Hg, V and Zn in the most contaminated site. Conversely, fluxes of Mn, Ni and Pb were comparable between the two stations. The estimated flux of Hg (97 μg m^?2 day^?1) was the highest observed among similar experiments conducted in other highly contaminated Mediterranean coastal environments. Benthic fluxes could be partially explained by considering rates of organic matter remineralisation, dissolution of Fe/Mn oxy-hydroxides and metal speciation in sediments. Seasonal and spatial variation of biogeochemical parameters can influence metal remobilisation in the Mar Piccolo area. In particular, metals could be promptly remobilised as a consequence of oxygen depletion, posing a serious concern for the widespread fishing and mussel farming activities in the area.     

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.     

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.     

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.     

Increased thyroid volume, prevalence of thyroid antibodies and impaired fasting glucose in young adults from organochlorine cocktail polluted area: outcome of transgenerational transmission?

In 137 females (F) and 94 males (M) aged 21-35 years from organochlorines (OCs) polluted area (POLL) increased thyroid volume (ThV), prevalence of antibodies to thyroperoxidase (TPOab), thyrotropin receptor (TRab) and of impaired fasting glucose (IFG) was found compared to 116 F and 107 M from background pollution area (BCGR). In F and M from POLL also strikingly increased level of PCBs, DDE and HCB was found. Such findings were compared to the generation of their parents aged 41-55 years consisting of 320F/213M from POLL and 406F/231M from BCGR. However, in spite of strikingly lower level of those OCs in young adults from POLL, they showed about the same prevalence of adverse health signs as the old generation. From such reason 44 young F and 40 young M with lowest PCBs level from POLL were selected to obtain nearly the same PCB level as found in all young F and M from BCGR. In such PCB adjusted groups the prevalence of TPOab, TRab, IFG and increased ThV was still significantly higher than that in all young subjects from BCGR. At the same time, also the level of DDE and HCB in such PCBs adjusted groups was considerably lower. It was concluded that such adverse effects in young adults from POLL possibly did not result from their actual OCs levels, but very likely from their exposure to high OCs levels of their mothers during their prenatal and perinatal life. Thus, the data may be compatible with present views on transgenerational transmission of endocrine disruptors action.     

DDT, DDE, and 1-hydroxypyrene levels in children (in blood and urine samples) from Chiapas and Oaxaca, Mexico

The aim of this study was to evaluate the DDT, DDE, and 1-hydroxypyrene exposure levels of children living in communities located in southeastern Mexico. The study communities were Lacanja and Victoria in Chiapas state and Ventanilla in Oaxaca state. Children living in Lacanja had total blood DDT levels (mean?±?SD, 29,039.6?±?11,261.4 ng/g lipid) that were significantly higher than those of children in Victoria (10,220.5?±?7,893.1 ng/g lipid) and Ventanilla (11,659.7?±?6,683.7 ng/g lipid). With respect to the 1-hydroxypyrene levels in urine samples, the levels in Lacanja (4.8?±?4.1 μg/L or 4.5?±?3.9 μmol/mol creatinine) and Victoria (4.6?±?3.8 μg/L or 3.9?±?3.0 μmol/mol Cr) were significantly higher than levels found in Ventanilla (3.6?±?1.4 μg/L or 2.5?±?0.5 μmol/mol Cr). In conclusion, our data indicate high levels of exposure in children living in the communities studied in this work. The evidence found in this study could be further used as a trigger to revisit local policies on environmental exposures.     

Dental enamel as biomarker for environmental contaminants in relevant industrialized estuary areas in São Paulo,Brazil

Heavy metal contamination is a long-standing and very well-known public health problem, and its exposure can cause damage to several organs of human body, especially on the central nervous system of young children and teenagers. The aim of this article is to evaluate lead, cadmium, and manganese contamination in 125 children from 6 to 13 years old living in contaminated areas during the period from 2006 to 2009 (São Vicente, Cubatão Downtown, Bertioga and Cubatão Pilões/Água Fria). This estuary area is the most important example of environmental degradation by chemicals from industrial sources. This is a cross-sectional study through clinical examinations and dental enamel tests. All mothers from these children lived in the area since before the pregnancy. Lead, cadmium, and manganese levels (μg/g) were measured on dental enamel samples through graphite furnace atomic absorption spectrometry, searching for the occurrence of heavy metals. The mean lead concentrations were 139.48 μg/g in Cubatão Pilões/Água Fria, 170.45 μg/g in Cubatão Downtown, 213.52 μg/g in São Vicente, and 151.89 μg/g in Bertioga. The mean cadmium concentrations were 10.83 μg/g in Cubatão Pilões/Água Fria, 12.58 μg/g in Cubatão Downtown, 10.92 μg/g in São Vicente, and 14.57 μg/g in Bertioga. The mean manganese concentrations were 23.49 μg/g in Cubatão Pilões/Água Fria, 30.90 μg/g in Cubatão Downtown, 41.46 μg/g in São Vicente, and 42.00 μg/g in Bertioga. Dental surface enamel may be used as an efficient biomarker of past environmental exposure to lead, manganese, and cadmium which are associated to well-known sources of heavy metal contamination. The results suggest that the evaluated children were exposed to sources of lead, cadmium, and manganese since before their conceptions. Although Bertioga initially was chosen as a control area of this study, it was also was verified to have heavy metal contamination on examined children.     

Dieldrin uptake by vegetable crops grown in contaminated soils

The aim of these trials was to study the distribution of dieldrin in soil and its translocation to roots and the aerial parts of vegetable crops grown in greenhouses and fields. The main objectives were to characterize dieldrin accumulation in plant tissues in relation to the levels of soil contamination; uptake capability among plants belonging to different species, varieties and cultivars. The presence of the contaminant was quantified by gas chromatography-electron capture detector (GC-ECD) and confirmed by gas chromatography-mass spectrometer (GC-MS). The results showed a translocation of residues in cucurbitaceous fruits and flowers confirming that zucchini, cucumber and melon are crops with high uptake capability. The maximum level of dieldrin residue at 0.01 mg/kg was found to be a threshold value to safeguard the quality production of cucurbits. Tomato, lettuce and celery were identified as substitute crops to grow in contaminated fields.     

Identification of Quarries Rehabilitation Scenarios: A Case Study Within the Metropolitan Area of Bari (Italy)

This paper addresses quarries rehabilitation issue within a Metropolitan Area. Areas where mining activity is carried out have been subjected to physical and environmental degradation linked both to pursue the building materials extraction and to the city expansion continuously asking for new areas to be developed with residential and service functions. These changes also occurred where environmental and landscape values are present. It has been therefore pointed out the issue of such areas redevelopment that, to be functionally reintegrated, must be consistently linked to the activities and the territorial local contexts characteristics. In this paper the quarries reuse issue is carried out through parameters identification able to define the quarries relationship with the neighboring towns and with their surroundings besides to identify their physical, environmental and landscaping characteristics. Quarry reuse alternatives have been identified among those consistent with the rehabilitation goals, as defined by the planning sector and internationally approved, while their selection is derived from the application of a two-step methodology: a multi-criteria analysis related to punctual parameters at a "site-specific" level, followed by a further territorial indicators checking over the wide area. This application has led to socially accepted results identifying the examined quarries for reuses ranging from agricultural-forestry and urban to functional or naturalistic. The proposed method has also proved to be suitable to address the abandoned quarries reuse problem with a systemic and consultative approach, as it is able to correlate the many variables present in the social and spatial complexity of the Metropolitan Areas.