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The mercury (Hg) pollution of sediments is the main carrier of Hg for the biota and, subsequently, for the local fish consumers in Augusta Bay area (SE Sicily, Italy), a coastal marine system affected by relevant sewage from an important chlor-alkali factory. This relationship was revealed by the determination of Mass Dependent (MDF) and Mass Independent Fractionation (MIF) of Hg isotopes in sediment, fish and human hair samples. Sediments showed MDF but no MIF, while fish showed MIF, possibly due to photochemical reduction in the water column and depending on the feeding habitat of the species. Benthic and demersal fish exhibited MDF similar to that of sediments in which anthropogenic Hg was deposited, while pelagic organisms evidenced higher MDF and MIF due to photoreduction. Human hair showed high values of δ(202)Hg (offset of +2.2‰ with respect to the consumed fish) and Δ(199)Hg, both associated to fish consumption.

The first attempt to systematically investigate the atmospheric mercury (Hg) in the MBL of the Augusta basin (SE Sicily, Italy) has been undertaken. In the past the basin was the receptor for Hg from an intense industrial activity which contaminated the bottom sediments of the Bay, making this area a potential source of pollution for the surrounding Mediterranean. Three oceanographic cruises have been thus performed in the basin during the winter and summer 2011/2012, where we estimated averaged Hg atm concentrations of about 1.5 ± 0.4 (range 0.9–3.1) and 2.1 ± 0.98 (range 1.1–3.1) ng m −3 for the two seasons, respectively. These data are somewhat higher than the background Hg atm value measured over the land (range 1.1 ± 0.3 ng m −3 ) at downtown Augusta, while are similar to those detected in other polluted regions elsewhere. Hg evasion fluxes estimated at the sea/air interface over the Bay range from 3.6 ± 0.3 (unpolluted site) to 72 ± 0.1 (polluted site of the basin) ng m −2 h −1 . By extending these measurements to the entire area of the Augusta basin (∼23.5 km 2 ), we calculated a total sea–air Hg evasion flux of about 9.7 ± 0.1 g d −1 (∼0.004 t yr −1 ), accounting for ∼0.0002% of the global Hg oceanic evasion (2000 t yr −1 ). The new proposed data set offers a unique and original study on the potential outflow of Hg from the sea–air interface at the basin, and it represents an important step for a better comprehension of the processes occurring in the marine biogeochemical cycle of this element.

Higher total homocysteine (tHcy) levels, and C677T and A1298C methylenetetrahydrofolate (MTHFR) polymorphisms, have been reported in preterm or full term newborns with neonatal encephalopathy following perinatal hypoxic-ischemic insult. This study investigated the causal role of tHcy and MTHFR polymorphisms together with other acquired risk factors on the occurrence of brain white matter abnormalities (WMA) detected by cranial ultrasound scans (cUS) in a population of late preterm and full term infants. A total of 171 newborns (81 M, 47.4%), 45 (26.3%) born (P<0.014), lower GA(P<0.000), lower Apgar score at 1 minutes(P<0.000)and 5 minutes(P<0.000), and 1298AC and 677CT/1298AC genotypes (P<0.000andP<0.000). In conclusion, both acquired and genetic predisposing antenatal factors were significantly associated with adverse neonatal outcome and WMA. The role of A1298C polymorphism may be taken into account for prenatal assessment and treatment counseling.

We detected a novel CLN1 mutation (c.125-15t>g) in two Italian siblings. The clinical phenotype is that of a variant late-infantile neuronal ceroid lipofuscinosis and consisted of early-onset visual loss, psychomotor deterioration, and seizures. Ultrastructurally, granular osmiophilic deposits were found in skin biopsy of both patients. The novel mutation occurs in the acceptor sequences for splicing and leads to skipping of multiple exons. This predicts a protein lacking part or all of the active site of the enzyme and the palmitate-binding pocket. Consequently, biochemical activity of the palmitoyl protein thioesterase-1 enzyme was drastically reduced. The new mutation was not identified in a large set of ethnically matched control chromosomes. Our findings support the notion that CLN1 patients are not rare in Southern Europe and facilitate DNA-based mutation and carrier testing in this family.

Our study reports on the total mercury (HgT) concentrations measured in the muscles and livers of several benthic, demersal and pelagic fish species caught inside and outside of Augusta Bay (southern Italy), a semi-enclosed marine area, highly contaminated by the uncontrolled (since the 1950s to 1978s) discharge of the largest European petrochemical plant. Mercury levels in fish tissues are discussed with regard to specific habitat, size and/or age of the specimens and HgT distribution in the bottom sediments. Results suggest a still active Hg release mechanism from the polluted sediments to the marine environment. Also, the high HgT concentrations measured in fishes caught in the external area of the bay imply a potential role of Augusta Bay as a pollutant source for the Mediterranean ecosystem. Finally, values of hazard target quotient (THQ) and estimated weekly intake (EWI) demonstrate that consumption of fishes caught inside the bay represents a serious risk for human health. Also, data indicate that intake of fishes caught from the external area of the bay, especially for that concern demersal and benthic species, could be represent a significant component of risk for the local population.

Objective High plasma homocysteine (Hcy) levels and, C677T and A1298C MTHFR polymorphysms, have been reported in preterm or full term newborns with neonatal encephalopathy following an hypoxic-ischemic insult. Beyond the well-defined pattern of white matter injury such as periventricular leukomalacia, several qualitative neonatal white matter abnormalities (WMA) may account for different degrees of neurobehavioral impairment at long-term observation, either in very preterm or full term infants. Environmental factors may contribute to WMA. We assessed the causal role of Hcy and MTHFR polymorphisms together with acquired risk factors on the occurrence of WMA detected by cranial ultrasound scans (cUS) in a population of late preterm and full term infants. Methods Newborn infants were recruited at the Intensive Care Unit of University Hospital of Messina. Antenatal, perinatal and neonatal details were obtained. Hcy levels were assessed in whole blood within the first week of life. The assessment of C677T and A1298C MTHFR genotypes was carried out. Cerebral ultrasound was performed to all newborns from 1 to 3 days of life and 44 postmenstrual age. Results 171 newborns (81 M, 47.4%), 45 (26.3%) born Conclusion Hcy and MTHFR polymorphisms significantly predisposed to WMA, either full-term or late preterm newborns, in our study. However, WMA was also significantly associated to acquired factors as GA and perinatal status, measured by Apgar scores. The role of A1298C polymorphism might be taken into account for prenatal assessment and treatment counseling.

Specimens of Sparus aurata were exposed to sub-lethal concentrations of Hg and Cd for 25 days and the levels of both metals were investigated in organs and tissues. Bioaccumulation of Hg decreased as follow: gills > kidney > liver > skin > muscle, while the order of Cd bioaccumulation was: liver > kidney > gills > skin > muscle. Immediately after exposure, both metals showed the highest bioaccumulation in gills and skin indicating that these organs are reliable targets for biomonitoring studies after short term exposure. Metals introduction caused a significant time-dependent concentrations increase in kidney and liver, while in the muscle a significant in-crease of Hg was recorded only at the end of the experimentation.The effects of exposure were also investigated, at biochemical level, in the liver, which represents the main target of xenobiotics biotransformation and metabolism in fish. Exposed fishes exhibited a reduction of total lipid level, a decrease of polyunsaturated fatty acids (PUFA), together with a MDA increase. This suggests a direct effect of contaminants on oxidative stress induction that, through the MDA increase, altered the membrane fatty acids composition decreasing the PUFA content. As it regards molecular markers related to oxidative stress and lipid metanolism, a significant increase of Nrf2, Hif- 1 alpha and Ampk and a decrease of Fas were observed after exposure to both metals, while an Nf-kB increase was recorded in specimens exposed to Hg, docuemnting a correlation with oxidative stress and consequent metabolism adaptation. Finally, these results suggest the pos-sibility to adopt these biomarkers to explore fish metabolic responses to environmental pollution.