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1.

Objectives

To give an overview of the genetic and structural abnormalities occurring in fetuses with nuchal translucency (NT) measurement exceeding the 95th percentile at first-trimester screening and to investigate which of these abnormalities would be missed if cell-free fetal DNA (cfDNA) were used as a first-tier screening test for chromosomal abnormalities.

Methods

This is a national study including 1901 pregnancies with NT≥95th percentile referred to seven university hospitals in the Netherlands between 1 January 2010 and 1 January 2016. All cases with unknown pregnancy outcome were excluded. Results of detailed ultrasound examinations, karyotyping, genotyping, pregnancy and neonatal outcomes, investigation by a clinical geneticist and post-mortem investigations were collected.

Results

In total, 821 (43%) pregnancies had at least one abnormality. The rate of abnormalities was 21% for fetuses with NT between 95th and 99th percentile and 62% for fetuses with NT≥99th percentile. Prevalence of single-gene disorders, submicroscopic, chromosomal and structural abnormalities was 2%, 2%, 30% and 9%, respectively.

Conclusion

Although cfDNA is superior to the combined test, especially for the detection of trisomy 21, 34% of the congenital abnormalities occurring in fetuses with increased NT may remain undetected in the first trimester of pregnancy, unless cfDNA is used in combination with fetal sonographic assessment, including NT measurement.  相似文献   
2.
Radon concentration measurements in atmosphere were taken in years from 1997 to 1999 in Milan and at pre-alpine sites located north of Lombardy. In this paper the results of measuring campaigns and a comparison of radon levels observed in the hilly area north of the town and on the pre-Alps are reported. The general criteria of the measurements and the interpretative models of radon concentration are presented. The Lake Maggiore area shows evidence of a great nocturnal stability and frequent formation of Nocturnal Stable Layer. The peculiar findings in the high altitude stations confirm the use of radon as an indicator of atmospheric dispersion of pollutants in an area with complex orography. The afternoon minimum values are concordant for the different stations: this implies a remixing in afternoon hours over the whole area investigated.  相似文献   
3.
Bioavailability is one main factor that influences the extent of biodegradation of hydrocarbons. They are very poorly soluble in water and easily adsorbed to clay or humus fractions, so they pass very slowly to the aqueous phase where they are metabolised by microorganisms. Cyclodextrins are natural compounds that form soluble inclusion complexes with hydrophobic molecules and increase degradation rate of hydrocarbons in vitro. In the perspective of an in situ application, we previously checked that -cyclodextrin does not increase eluviation of hydrocarbons through the soil and consequently does not increase the risk of groundwater pollution. The results of an in situ application of -cyclodextrin for bioremediation of a hydrocarbon polluted site are presented. We stated that the combination of bioaugmentation and enhanced bioavailability due to -cyclodextrin was effective for a full degradation.  相似文献   
4.
Mitochondria are topologically closed bilayered systems where the synthesis of adenosine triphosphate (ATP) from adenosine diphosphate (ADP) and inorganic phosphate occurs via oxidative phosphorylation. The ordered architecture (and its extension) of the mitochondria (i.e. inner membrane, outer membrane and cristae) constitutes a critical topographic arrangement for their energy-providing mechanisms. Thus, quantitative estimations of the ultrastructural features of organelles preferentially stained by means of function-related cytochemical reactions reliably report on their potential to supply adequate amounts of ATP. On the basis of this rationale, we carried out a computer-assisted cytochemical study of cytochrome oxidase (COX) activity on mitochondria of different size in the cerebellar cortex of adult rats. The total intra-mitochondrial area of the cytochemical precipitates (CPA)/mitochondrion, the area (MA) and the longer diameter (Fmax) of COX-positive organelles were measured. The ratio (R): CPA/MA was also calculated and referred to as the percentage of mitochondrial inner membrane area involved in COX activity. The regression analysis of R vs MA showed a significant inverse correlation (r=т.905). The fourfold increase in MA from quartiles I to IV was matched by increases in Fmax and CPA, respectively, but it was also related to a 25% decrease in R. By matching quantitative cytochemical estimations of COX activity within mitochondria with the morphometric assessment of their ultrastructural features, the present study correlates size to the metabolic competence of COX-positive organelles. Quantitative cytochemistry of COX activity is currently regarded as a reliable marker of cellular metabolism; thus our findings support the hypothesis that enlargements in size are inversely correlated with the mitochondrial metabolic competence.  相似文献   
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The RAMseS project, under the European Commission's 6th Framework Program, is dedicated to the construction and test of low-power operations based on photovoltaic power and a multipurpose electric vehicle. In the present study, the life-cycle costs and economical indices for the vehicle during its life span were assessed, compared to those of a standard internal combustion engine vehicle (ICEV). The results indicated that the life-cycle costs for the RAMseS vehicle and the ICEV are the same for a fuel unit price of 1.8 €/L. Also, the levelized cost of energy (LCE) for the RAMseS vehicle, was found to be 2.13 €/kWh, while RAMseS LCE, without EV taken into account, was shown to be 0.62 €/kWh. The RAMseS payback period (PBP) without EV taken into account was calculated to be 9 years if the value of the produced energy becomes at least 0.35 €/kWh. Vehicles that use PV systems as their power source, such as RAMseS, will be economically effective for fuel costs higher than 1.8 €/L, but considering the environmental benefits that are provided in terms of external costs, they can be considered profitable even at lower fuel costs.  相似文献   
8.
In the Southern Mediterranean region hilly and remote areas are afflicted with the high cost of diesel fuel, problematic supply, poor or non-existent grid connections and lack of maintenance technicians to service farm grid generation systems and machinery. A prototype Battery Powered Electric Vehicle (BPEV) charged using a solar photovoltaic array (10 kWp) was installed at a monastery situated at Achkout (Lebanon) with a total agricultural area of 50 ha, 10 ha of which was devoted to viticulture. The purpose of this was to investigate the potential for the cleaner production of power hence reducing the use of diesel fuels in agriculture. Data collected from the test site is presented and used to validate a numerical model. The numerical model was then used to extend the study further to the other countries bordering the Mediterranean Sea which have different levels of solar irradiance. Currently the average cost of diesel fuel within the EU is at an all-time high of 1.32 €/L. A life cycle costing determined that if the current trends in inflation in the EU continue and that fuel costs increase by 7.5% per annum, then battery powered electric vehicles charged using solar photovoltaics are economically viable in areas of high solar irradiance. The numerical model was then used to determine the outcome of using lithium titanate batteries instead of conventional lead-acid batteries. Adoption of the described system for a 10 ha vineyard would result in annual fuel saving of 4200–5200 L of diesel depending on which location in the Mediterranean area a system such as this is installed.  相似文献   
9.
This paper reports the results of indoor radon measurements carried out in the Lombard plain. The aim of this study, which is based on the geological context, was to identify radon high-risk areas. The underlying geology has been established by means of the available stratigraphies giving a schematic representation of the sites in which either occurrence of gravel or silt and clay predominate with depths ranging from 0 to 50 m. Radon measurements were performed in a sample of 411 one-family houses in seven villages located in the southern area of Bergamo and Brescia. The findings indicate that when the substrate is dominated by clay, radon concentration for dwellings on the ground floor are low, whereas a strong predominance of underlying gravel mixed up in sand gives in winter months high radon flux from underground.  相似文献   
10.
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