Germline mosaicism complicates molecular diagnosis of Lesch–Nyhan syndrome

A healthy female with a brother suffering from Lesch–Nyhan syndrome was assigned a carrier status on the basis of haplotype analysis employing flanking and intragenic polymorphic markers of the HPRT gene. Her mother has been confirmed as a definite carrier by cell growth selection studies in cultured fibroblasts. In our proposita's first pregnancy, a male fetus was identified carrying the risk allele. Afterwards, the underlying novel mutation A161E (GCA→GAA at position c482) could be identified in the affected brother and in the heterozygous mother but not in the DNA of the pregnant sister and fetus. The fetus was also confirmed to be normal by uptake of 14C-hypoxanthine in cultured amniotic cells. To test the discrepancy, the investigation was extended by recruiting additional family members. The data obtained showed that the mother had passed her risk haplotype to the affected son as well as to her mutation-carrying and non–mutation-carrying daughters. This provides the first evidence of concomitant somatic and germline mosaicism in Lesch–Nyhan syndrome. The study has a bearing on genetic counselling and cautions against the reliability of only using indirect genetic diagnosis even with intragenic markers. Copyright © 2004 John Wiley & Sons, Ltd.     

煤矿本质安全化管理体系建立及其应用的探讨

运用安全系统工程中的事故树理论,以瓦斯爆炸事故为例分析了煤矿中的7类主要事故,并得出相应的事故树。通过对事故树的定性分析,得出事故树的最小径集和基本事件重要度排序。进而可预测基本事件的发生所能够导致的结果,可根据各基本事件的重要度排序,确定避免发生事故应采取的基本措施,并建立了煤矿本质安全化管理体系。设计出煤矿本质安全化管理体系的软件,并以瓦斯爆炸事故为例,分析了该管理体系在实际中的应用效果。     

Prenatal diagnosis of Niemann–Pick diseases types A,B and C

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.     

Tetrasomy 12p—unusual presentation in CVS

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.     

Managing Urban Trees and Their Soil Envelopes in a Contiguously Developed City Environment

Urban Hong Kong is covered by high building, road, and population densities. Its urban morphology is inherently not conducive to extensive or high-grade greening. Recent renewal of old areas has squeezed out some limited interstitial plantable space, although in new development areas modest spaces have been earmarked for greenery. The study aims at evaluating the major constraints to urban trees and their companion urban soil envelopes and at providing specific recommendations to improve tree management in the city. The analysis covers the above-ground confinements that dampen tree performance, the less tangible but rather difficult institutional restrictions that impose a somewhat unnecessary lid on tree planting, the multiplicity of players and stakeholders involved in urban-tree management that militates against coordination and cooperation, the widespread occupation of underground space by utility lines often to the exclusion of trees, and the extremely poor quality of urban soils that are often used without amelioration to support tree growth. The management recommendations furnish practical suggestions and hints to improve the short- and long-term welfare of trees in terms of quality, quantity, and spatial distribution. The conclusion enumerates some concrete measures for consideration by decision-makers to upgrade the city's greenery to close the gap between science and policy.     

Survey of mercury,cadmium and lead content of household batteries

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.     

Non-biodegradable landfill leachate treatment by combined process of agitation,coagulation, SBR and filtration

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.     

Combining culturomic sources to uncover trends in popularity and seasonal interest in plants

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.