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131.
Superficial sediments collected from seven estuarine systems located along the Portuguese coast were analyzed for 7 polychlorinated dibenzo-p-dioxins (PCDDs), 10 polychlorinated dibenzofurans (PCDFs), and 12 dioxin-like polychlorinated biphenyls (dl-PCBs). Total PCDD/F concentration ranged from 4.6 to 464 pg g?1 dry weight (dw), while that of dl-PCBs varied from 26.6 to 8,693 pg g?1 dw. In general, the highest PCDD/F and dl-PCB concentrations were associated with densely populated and industrially impacted areas. Additionally, PCDD/F revealed a predominance of octachlorodibenzodioxin (OCDD) to total PCDD/Fs, while PCB 118 was the major contributor to total dl-PCBs. This study provided a global perspective of the contamination status of Portuguese estuaries by dioxin-like compounds and allowed a comparison between the investigated systems and other systems worldwide. PCDD/F and dl-PCB levels found in the collected sediments were lower than those of highly impacted areas from different parts of the globe. Nevertheless, comparison with guidelines and quality standards from other countries indicated that some Portuguese estuarine areas with a high industrialization level present PCDD/F and dl-PCB concentrations in superficial sediment that may constitute a risk to aquatic organisms.  相似文献   
132.
In order to obtain representative dissolved and solid samples from the aquatic environment, a spectrum of sampling methods are available, each one with different advantages and drawbacks. This article evaluates the use of discrete sampling and time-integrated sampling in illustrating medium-term spatial and temporal variation. Discrete concentration index (CI) calculated as the ratio between dissolved and solid metal concentrations in grab samples are compared with time-integrated concentration index (CI) calculated from suspended particulate matter (SPM) collected in sediment traps and labile metals measured by the diffusive gel in thin films (DGT) method, collected once a month during one year at the Seine River, upstream and downstream of the Greater Paris Region. Discrete CI at Bougival was found to be significantly higher than at Triel for Co, Cu, Mn, Ni and Zn, while discrete metal partitioning at Marnay was found to be similar to Bougival and Triel. However, when using time-integrated CI, not only was Bougival CI significantly higher than Triel CI, CI at Marnay was also found to be significantly higher than CI at Triel which was not observed for discrete CI values. Since values are time-averaged, dramatic fluctuations were smoothed out and significant medium-term trends were enhanced. As a result, time-integrated concentration index (CI) was able to better illustrate urbanization impact between sites when compared to discrete CI. The impact of significant seasonal phenomenon such as winter flood, low flow and redox cycles was also, to a certain extent, visible in time-integrated CI values at the upstream site. The use of time-integrated concentration index may be useful for medium- to long-term metal studies in the aquatic environment.  相似文献   
133.
Daily 24 hour composite influent wastewater samples were collected from the wastewater treatment plant of Brussels-North (Belgium) for eight months to study variations in the concentrations and mass loads of nine illicit drugs and metabolites: cocaine (COC) and its metabolites benzoylecgonine (BE) and ecgonine methyl ester (EME), amphetamine (AMP), methylenedioxymethamphetamine (MDMA), methamphetamine (METH), methadone (MTD) and its metabolite 2-ethylidene-1,5-dimethyl-3,3-diphenylpyrrolidine (EDDP) and the specific metabolite of heroin, 6-monoacetylmorphine (6-MAM). Samples were analyzed using a validated analytical method based on solid-phase extraction and hydrophilic interaction liquid chromatography coupled to tandem mass spectrometry. The selected compounds could be detected and quantified in all samples. The measured concentrations were in agreement with earlier published concentrations, when available. All illicit drugs showed significant differences in mass loads between months. Daily variations were observed for MDMA, AMP and COC and metabolites, with higher mass loads observed during the weekend. This is probably related to their recreational consumption pattern and was further confirmed when holiday periods (New Year's Eve, Belgian national holiday) were in detail investigated. For METH, 6-MAM, MTD and EDDP, stable and consistent amounts were observed during the week. In all samples, the ratio of the concentration of the parent compound to its metabolite(s) was calculated to evaluate whether measured concentrations reflect human excretion of the illicit drugs. For MTD, the ratio of parent compound/metabolite was in agreement with the excretion pattern, while for COC some deviations were observed, resulting from excretion pattern uncertainties, and stability and discharge issues.  相似文献   
134.
A hepatitis E outbreak, which occurred on a small isolated island, provided an opportunity to evaluate the association between the number of hepatitis E cases in the community and the concentration of virus detected in sewage. Samples were collected from the different sewage treatment plants from the island and analyzed for the presence of hepatitis E (HEV) virus using real-time RT-PCR. We demonstrated that if 1–4 % of inhabitants connected to a WWTP were infected with HEV, raw sewage contained HEV at detectable levels. The finding that such a small number of infected people can contaminate municipal sewage works raises the potential of the further distribution of the virus. Indeed, investigating the routes of transmission of HEV, including the potential for sewage effluent to contain infectious HEV, may help us to better understand the epidemiology of this pathogen, which is considered to be an emerging concern in Europe.  相似文献   
135.
RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs), and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage, and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications. In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage the family. All arteriovenous malformations are however not accessible to such procedures. In addition, these therapeutic procedures may result in potential side effects and complications. A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA1 mutation. Here, we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related diseases. This first report of prenatal diagnosis in RASA1-related diseases may also offer perspectives for a more general discussion in the field of inherited arteriovenous malformations.  相似文献   
136.
137.
In spring 2011, an unprecedented flood hit the complex eastern United States (U.S.)–Canada transboundary Lake Champlain–Richelieu River (LCRR) Basin, destructing properties and inducing negative impacts on agriculture and fish habitats. The damages, covered by the Governments of Canada and the U.S., were estimated to C$90M. This natural disaster motivated the study of mitigation measures to prevent such disasters from reoccurring. When evaluating flood risks, long‐term evolving climate change should be taken into account to adopt mitigation measures that will remain relevant in the future. To assess the impacts of climate change on flood risks of the LCRR basin, three bias‐corrected multi‐resolution ensembles of climate projections for two greenhouse gas concentration scenarios were used to force a state‐of‐the‐art, high‐resolution, distributed hydrological model. The analysis of the hydrological simulations indicates that the 20‐year return period flood (corresponding to a medium flood) should decrease between 8% and 35% for the end of the 21st Century (2070–2099) time horizon and for the high‐emission scenario representative concentration pathway (RCP) 8.5. The reduction in flood risks is explained by a decrease in snow accumulation and an increase in evapotranspiration expected with the future warming of the region. Nevertheless, due to the large climate inter‐annual variability, short‐term flood probabilities should remain similar to those experienced in the recent past.  相似文献   
138.
We report a multiplex family with a GATA1 gene mutation responsible for a massive fetal cerebral hemorrhage occurring at 36 weeks. Two other stillbirth cousins presented with fetal hydrops and congenital hemochromatosis' phenotype at 37 and 12 weeks of gestation. Molecular screening revealed the presence of a c.613G>A pathogenic allelic variation in exon 4 of GATA1 gene in the 3 male siblings and their carrier mothers. The diagnosis of a GATA1 gene mutation may be suspected in cases of male fetuses with intracerebral bleeding, particularly if a history of prior fetal loss(es) and mild maternal thrombocytopenia are also present.  相似文献   
139.
A prospective study of maternal serum human chorionic gonadotrophin (hCG) measurement for the selection of pregnancies with an increased risk of fetal trisomy 21 was undertaken in 24 000 pregnancies from 1 January 1989 to 31 December 1990. Maternal serum was sampled at 15-18 weeks of gestation. hCG was measured in one laboratory, with one technique. This ‘hCG high level’ technique was developed for this screening. Amniocentesis was offered to each woman with a maternal serum hCG level above the cut-off. The follow-up of the pregnancies is known in 92 per cent of cases. The combination of hCG values and maternal age gave a detection efficiency of 63 per cent for trisomy 21 with rates of amniocentesis of 30 per cent for patients aged 37 years, 20 per cent for patients aged 35 or 36 years, and 5 per cent for patients under 35 years of age. Based on this prospective study, an individual risk was calculated combining the serum hCG value and maternal age. Seventy-four per cent of trisomy 13, trisomy 18, triploidy, and 5p- deletion were detected either in the same selected group of women or in combination with ultrasonography performed when hCG values were very low. The follow-up study showed that women who had high or low hCG values represented a group at high risk for fetal or perinatal death.  相似文献   
140.
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