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61.
    
We describe the first case of mosaic supernumerary marker iso (8p) displaying a karyotype discordance between chorionic villi (CV) and amniotic fluid (AF) cultures during prenatal cytogenetic diagnosis. In the first trimester, cytogenetic analysis after chorionic villi sampling (CVS) was normal in all metaphases in the short-term cytotrophoblast cell culture, but an undefined supernumerary marker was detected in 60% of mesenchymal cells in the long-term CV culture. Informed of the mosaicism, the couple selected amniotic fluid sampling as a second-trimester confirmatory diagnostic procedure. The supernumerary marker was absent in all of the 25 available AF cells metaphases. The prospective parents received genetic counselling and were informed that the discordance could be interpreted as a placental confined mosaicism or as a true foetal mosaicism with low percentage of affected cells. The couple opted to continue the pregnancy. In the second month of life, the child had abnormal development with severe psychomotor delay and frequent episodes of epilepsy. Postnatal cytogenetic extensive re-evaluation discovered that the previously detected supernumerary marker was indeed an isochromosome (8p) rearrangement present at low frequency in 5% of the blood lymphocytes. Copyright © 2006 John Wiley & Sons, Ltd.  相似文献   
62.
    
The toxic effects of gold nanoparticles surface-functionalized with the antimicrobial peptide indolicidin(Au NPs-indolicidin) towards the yeast Saccharomyces cerevisiae, one of the major eukaryotic model organisms, have been evaluated. Growth and survival,genotoxicity, as measured by comet assay, and expression of the YCA1, an apoptosis indicating gene, following 72 hr exposure of yeast to Au NPs-indolicidin, and to Au NPs and indolicidin alone have been examined. The gold nanoparticles exerted toxicity with DNA damage, accompanied by reactive oxygen species production(ROS), but they do not inhibit yeast growth and viability. Genotoxicity was less pronounced for surface-functionalized nanoparticles, showing that S. cerevisiae is quite resistant to the complex Au NPs-indolicidin.A progressive reduction of the genotoxic effect was observed along 72 hr exposure,presumably due to the activation of DNA repair mechanisms. These findings suggest the occurrence of a physiological protective response of S. cerevisiae towards nanoparticles,thereby providing useful information to the assessment of the environmental impact of metal nanoparticles.  相似文献   
63.
    

Objective

To develop a multi-step workflow for the isolation of circulating extravillous trophoblasts (cEVTs) by describing the key steps enabling a semi-automated process, including a proprietary algorithm for fetal cell origin genetic confirmation and copy number variant (CNV) detection.

Methods

Determination of the limit of detection (LoD) for submicroscopic CNV was performed by serial experiments with genomic DNA and single cells from Coriell cell line biobank with known imbalances of different sizes. A pregnancy population of 372 women was prospectively enrolled and blindly analyzed to evaluate the current workflow.

Results

An LoD of 800 Kb was demonstrated with Coriell cell lines. This level of resolution was confirmed in the clinical cohort with the identification of a pathogenic CNV of 800 Kb, also detected by chromosomal microarray. The mean number of recovered cEVTs was 3.5 cells per sample with a significant reverse linear trend between gestational age and cEVT recovery rate and number of recovered cEVTs. In twin pregnanices, evaluation of zygosity, fetal sex and copy number profiling was performed in each individual cell.

Conclusion

Our semi-automated methodology for the isolation and single-cell analysis of cEVTS supports the feasibility of a cell-based noninvasive prenatal test for fetal genomic profiling.  相似文献   
64.
65.
    
A semiparametric estimator for animal density in distance sampling is proposed when grouped data are on hand. The estimation technique is based on a kernel‐smoothed local least‐square criterion function, suitably developed for this setting. The new method presents interesting theoretical properties and it produces accurate and robust estimators, as is shown in a Monte Carlo study. Copyright © 2002 John Wiley & Sons, Ltd.  相似文献   
66.
Biological invasions are deemed as one of the most severe threats to biodiversity and can result in huge economic impacts on natural resources. Many studies have assessed structural changes caused by the introduction of nonindigenous species, but urgent questions remain to be answered about the complex indirect effects of invasive pests on marine biodiversity at the species and ecosystem level. Previous investigations focusing on the biological invasion by Caulerpa racemosa in the Mediterranean indicated that the lipophilic algal metabolite caulerpin accumulates in the tissues of the native edible white sea bream Diplodus sargus feeding on the exotic alga. The level of caulerpin in D. sargus has been thus used as an indicator of the trophic exposure of the fish to the seaweed and related with adverse effects on the fish health. In the present study, we show that the C. racemosa-based diet can also alter muscle fatty acids composition in the white sea bream by reducing the percentage of polyunsaturated fatty acids of the n-3 and n-6 series, such as eicosapentaenoic (C20:5), docosahexaenoic (C22:6) and arachidonic acids (C20:4). This represents both a real threat to the health of fish unable to biosynthesize these essential fatty acids and an impoverishment of an important source of essential fatty acids for human nutrition, which helps to prevent cardiovascular diseases, diabetes, hepatic steatosis, cancer and neurological disorders. On the whole, this work sheds light on an unexplored and critical aspect of biological invasions with implication on the health of both humans and the environment.  相似文献   
67.
Environmental Geochemistry and Health - This study focuses on the geochemical features of the presently discharging thermal and cold springs and on paleofluids from the upstream portion of the Reno...  相似文献   
68.
The Industrial District (I.D.) of Messina was the first public authority to consider useful the application of the Strategic Environmental Assessment (SEA) procedure for the development of an Industrial Plan regarding a coastal area. At the moment the I.D. includes six areas, but the application of the SEA concerns only the area of Pace del Mela (along the north-eastern coast of Sicily), where a “District of the two Seas” will be created, based on the synergetic development between an industrialized niche (shipbuilding) and touristic development (port and hotels). The area in which this type of intervention will occur is not in use at the moment and it was not possible to collect environmental data. For this reason, in order to describe the environmental features of this territory, we took into consideration a few indicators which could be easily identified, necessary for a post evaluation which considers the Environmental Impact Assessment (EIA) of the industrial and suburban structures to be built.  相似文献   
69.
The aim of this study was to evaluate mercury and selenium distribution in different portions (exoskeleton, white meat and brown meat) of Norway lobster (Nephrops norvegicus). Some samples were also analysed as whole specimens. The same portions were also examined after boiling, in order to observe if this cooking practice could affect mercury and selenium concentrations. The highest mercury concentrations were detected in white meat, exceeding in all cases the maximum levels established by European legislation. The brown meat reported the highest selenium concentrations. In all boiled samples, mercury levels showed a statistically significant increase compared to raw portions. On the contrary, selenium concentrations detected in boiled samples of white meat, brown meat and whole specimen showed a statistically significant decrease compared to the corresponding raw samples. These results indicate that boiling modifies mercury and selenium concentrations. The high mercury levels detected represent a possible risk for consumers, and the publication and diffusion of specific advisories concerning seafood consumption is recommended.  相似文献   
70.
Environmental Science and Pollution Research - Alpine lakes are extreme ecosystems located in remote areas and populated by few but well-adapted species. Because of their remote location, they are...  相似文献   
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