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111.
Marie T. Vanier 《黑龙江环境通报》2002,22(7):630-632
Prenatal diagnosis of Niemann–Pick disease types A and B is routinely accomplished by sphingomyelinase assay. For Niemann–Pick type C disease, demonstration of an abnormal intracellular cholesterol trafficking is a complex procedure, and mutational analysis (NPC1 or NPC2/HE1 gene), whenever feasible, represents a major advance. Copyright © 2002 John Wiley & Sons, Ltd. 相似文献
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CVS direct preparations usually achieve limited resolution and are better at detecting numerical rather than structural abnormalities. A CVS direct preparation analyzed using G-banding revealed a 47,XY,+G karyotype in 5 of 11 cells and was reported as mosaic for trisomy 21. Subsequent analysis of the CVS culture found only normal male cells. Amniocentesis revealed both normal male cells and cells with an extra F-group chromosome. Fluorescence in situ hybridization (FISH) identified this chromosome to be an isochromosome from the short arm of chromosome 12 [i(12)(p10)]. The amniocyte karyotype was reported as 47,XY,+i(12)(p10)[12]/46,XY[8].ish i(12)(p10)(wcp12+), which is associated with Pallister–Killian syndrome. Reexamination of the CVS direct preparation by FISH with a chromosome 12 centromere probe confirmed the karyotype of this tissue to be 47,XY,+mar[5]/46,XY[6].nuc ish 12cen(D12Z3 × 3)/12cen(D12Z3 × 2). Thus, multiple studies, including amniocentesis and fluorescence in situ hybridization, may be required to fully and accurately evaluate abnormalities detected by CVS. This case also indicates that mosaicism for supernumerary isochromosomes may have a complex origin. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献
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Sebastian Recknagel Hendrik Radant Regina Kohlmeyer 《Waste management (New York, N.Y.)》2014,34(1):156-161
The objective of this work was to provide updated information on the development of the potential impact of heavy metal containing batteries on municipal waste and battery recycling processes following transposition of the new EU Batteries Directive 2006/66/EC. A representative sample of 146 different types of commercially available dry and button cells as well as lithium-ion accumulators for mobile phones were analysed for their mercury (Hg)-, cadmium (Cd)- and lead (Pb)-contents. The methods used for preparing the cells and analysing the heavy metals Hg, Cd, and Pb were either developed during a former study or newly developed. Several batteries contained higher mass fractions of mercury or cadmium than the EU limits. Only half of the batteries with mercury and/or lead fractions above the marking thresholds were labelled. Alkaline–manganese mono-cells and Li-ion accumulators, on average, contained the lowest heavy metal concentrations, while zinc–carbon batteries, on average, contained the highest levels. 相似文献
114.
Alkhafaji R. Abood Jianguo Bao Jiangkun Du Dan Zheng Ye Luo 《Waste management (New York, N.Y.)》2014,34(2):439-447
This study describes the complete treatment of non-biodegradable landfill leachate by combined treatment processes. The processes consist of agitation as a novel stripping method used to overcome the ammonia toxicity regarding aerobic microorganisms. The NH3-N removal ratio was 93.9% obtained at pH 11.5 and a gradient velocity (G) 150 s?1 within a five-hour agitation time. By poly ferric sulphate (PFS) coagulation followed the agitation process; chemical oxygen demand (COD) and biological oxygen demand (BOD5) were removed at 70.6% and 49.4%, respectively at an optimum dose of 1200 mg L?1 at pH 5.0. The biodegradable ratio BOD5/COD was improved from 0.18 to 0.31 during pretreatment step by agitation and PFS coagulation. Thereafter, the effluent was diluted with sewage at a different ratio before it was subjected to sequencing batch reactor (SBR) treatment. Up to 93.3% BOD5, 95.5% COD and 98.1% NH3-N removal were achieved by SBR operated under anoxic–aerobic–anoxic conditions. The filtration process was carried out using sand and carbon as a dual filter media as polishing process. The final effluent concentration of COD, BOD5, suspended solid (SS), NH3-N and total organic carbon (TOC) were 72.4 mg L?1, 22.8 mg L?1, 24.2 mg L?1, 18.4 mg L?1 and 50.8 mg L?1 respectively, which met the discharge standard. The results indicated that a combined process of agitation-coagulation-SBR and filtration effectively eliminated pollutant loading from landfill leachate. 相似文献
115.
Culturomic tools enable the exploration of trends in human–nature interactions, although they entail inherent biases and necessitate careful validation. Furthermore, people may engage with nature across different culturomic data sets differently. We evaluated people's digital interest and engagement with plant species based on Wikipedia and Google data and explored the conservation implications of these temporal interest patterns. As a case study, we explored the digital footprints of the most popular plant species in Israel. We analyzed 4 years of daily page views from Hebrew Wikipedia and 10 years of daily Google search volume in Israel. We modeled popularity of plant species in these 2 data sets based on a suite of plant attributes. We further explored the seasonal trends of people's interest in each species. We found differences in how people interacted digitally with plants in Wikipedia and Google. Overall, in Google, searches for species that have utility to humans were more common, whereas in Wikipedia, plants that serve as cultural emblems received more attention. Furthermore, in Google, popular species attracted more attention over time, opposite to the trend in Wikipedia. In Google, interest in species with short bloom duration exhibited more pronounced seasonal patterns, whereas in Wikipedia, seasonality of interest increased as bloom duration increased. Together, our results suggest that people's digital interactions with nature may be inherently different depending on the sources explored, which may affect use of this information for conservation. Although culturomics holds much promise, better understanding of its underpinnings is important when translating insights into conservation actions. 相似文献
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Dr Gloria Pelizzo Giancarlo Conoscenti Karim D. Kalache Francesco Vesce Paolo Guerrini Luigi Cavazzini 《黑龙江环境通报》2003,23(4):292-294
An Erratum has been published for this article in Prenatal Diagnosis 23(9) 2003, 771 Antenatal detection of an isolated abdominal cyst was found to be a pancreatoblastoma in a female fetus with Beckwith–Wiedemann syndrome. Prenatal and post-natal features and management of this very rare tumour are discussed. Molecular investigation disclosed a mosaic paternal 11p15 uniparental disomy in the tumoral cells. The prognosis of a congenital pancreatoblastoma is good if complete surgical excision is achieved. However, the association with Beckwith–Wiedemann syndrome requires a prolonged follow-up because of the increased risk of developing malignant tumours. Copyright © 2003 John Wiley & Sons, Ltd. 相似文献