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.     

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.     

National aeronautics and space administration

The United States National Aeronautics and Space Administration is an important real and potential source of global environmental data. This paper describes some of its capabilities as they relate to the their R&D and their data centers.     

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.     

生态环境空间分级管控策略研究

生态环境空间分级管控是为了确保各级尺度下的生态环境空间充分发挥其生态服务功能所采取的管理控制手段与途径,同时给城市生态环境空间的管控提供依据,在不同尺度下,生态环境空间需按照不同精细度的管控方法和不同的土地空间单位进行分级,生态环境空间分级管控主要包括:省域尺度生态环境空间的管控、市域尺度生态环境空间管控和在主城区尺度下生态环境空间管控。通过3种尺度不同管控方法和策略的有效衔接,从宏观、中观和微观3个层次保证了生态规划的完整性和连续性,使生态系统服务真正发挥其价值。