Prenatally detected trisomy 7 mosaicism in a dysmorphic child

Trisomy 7 mosaicism was detected prenatally in cultured amniocytes but not in fetal lymphocytes. The child that was born had pigmentary changes of the skin and facial asymmetry suggestive of a chromosomal mosaicism. Skin fibroblasts were studied and trisomy 7 mosaicism was confirmed. At 3 years of age the boy had developed mentally within normal limits. However, dysmorphic findings include sparse hair, short leftpalpebral fissure, ptosis of the left eyelid, strabismus, enamel dysplasia, low-set and posteriorly rotated ears and undescended testes. These findings share some common features with previously reported cases of trisomy 7 mosaicism. Copyright © 2002 John Wiley & Sons, Ltd.     

First-trimester prenatal diagnosis of aspartylglucosaminuria

Fetal aspartylglucosaminuria (AGU) was studied during the first trimester of pregnancy in six at-risk pregnancies using chorionic villus samples. The activity of aspartylglucosaminidase (AGA) was high in five cases, indicating an unaffected fetus. This was confirmed through delivery of healthy newborns with a normal pattern of urinary oligosaccharides. Low enzyme activity in an uncultured biopsy specimen and in cultured amniotic fluid cells in one case demonstrated that the fetus was affected. The pregnancy was terminated and the prenatal diagnosis was confirmed by showing reduced AGA activity in cultured fibroblasts of the fetus.     

Integrating energy efficiency performance in production management – gap analysis between industrial needs and scientific literature

For governments and for manufacturing companies, global warming, rising energy prices, and customers’ increasing ecological awareness have pushed energy efficient manufacturing to the top of the agenda. Governments and companies are both striving to identify the most effective measures to increase energy efficiency in manufacturing processes. Based on results of a recent EU-funded roadmapping project, this paper highlights the needs of industrial companies for integrating energy efficiency performance in production management. First, it analyses concepts and tools for measurement, control and improvement of energy efficiency in production management proposed in literature. Second, the paper outlines that ICT tools and standardization are important enablers for energy efficient manufacturing. Third, industrial needs in these areas are presented based on expert interviews. The industrial needs thus identified are contrasted with concepts proposed in literature to point out the implementation gaps between practice and theory. The paper demonstrates that there exists a gap between the solutions available and the actual implementation in industrial companies. It concludes by deriving requirements for energy management in production that future collaborative research projects should address.     

Sectoral Trends and Driving Forces of Global Energy Use and Greenhouse Gas Emissions

Disaggregation of sectoral energy use and greenhouse gas emissions trends reveals striking differences between sectors and regions of the world. Understanding key driving forces in the energy end-use sectors provides insights for development of projections of future greenhouse gas emissions. This paper examines global and regional historical trends in energy use and carbon emissions in the industrial, buildings, transport, and agriculture sectors. Activity and economic drivers as well as trends in energy and carbon intensity are evaluated. We show that macro-economic indicators, such as GDP, are insufficient for comprehending trends and driving forces at the sectoral level. These indicators need to be supplemented with sector-specific information for a more complete understanding of future energy use and greenhouse gas emissions.     

通过调节汽油中铅的使用来控制人体血铅浓度

在20世纪60～70年代,铅排放一直保持着最大速率,之后,由于工业国家采取了日益严格的政策来限制铅作为防爆剂在汽油中使用,使得含铅汽油已经变得很少见了.我们利用欧洲铅排放量(PbE)和空气浓度(PbC)的重建及对约1980年以来德国人体血铅浓度(PbB)的重复测定,建立了一个可由铅排放量(PbE)估计人体血铅浓度(PbB)的经验模型.采用这一模型有两种用途[1]估计六七十年代德国的PbB水平,当时铅排放量最大而人体血铅水平监测尚未开始.结果显示,血铅峰值已经达到了卫生官员认为对胎儿和儿童有潜在危害的平均水平.[2]估计PbB水平将如何因有关汽油中铅使用的法规的实施而变化.模型估计,如果没有或延迟法规,PbB水平将远远超过临界水平.因此,自20世纪70年代以来,德国制定的法规已经明显降低了铅对健康的危害.     

Detection Method for Avian Influenza Viruses in Water

Recent events have shown that humans may become infected with some pathogenic avian influenza A viruses (AIV). Since soil and water, including lakes, rivers, and seashores, may be contaminated by AIV excreted by birds, effective methods are needed for monitoring water for emerging viruses. Combining water filtration with molecular methods such as PCR is a fast and effective way for detecting viruses. The objective of this study was to apply a convenient method for the detection of AIV in natural water samples. Distilled water and lake, river, and seawater were artificially contaminated with AIV (H5N3) and passed through a filter system. AIV was detected from filter membrane by real-time RT-PCR. The performance of Zetapor, SMWP, and Sartobind D5F membranes in recovering influenza viruses was first evaluated using contaminated distilled water. SWMP, which gave the highest virus recoveries, was then compared with a pre-filter combined GF/F filter membrane in a trial using natural water samples. In this study, the cellulose membrane SMWP was found to be practical for recovery of AIVs in water. Viral yields varied between 62.1 and 65.9% in distilled water and between 1 and 16.7% in natural water samples. The borosilicate glass membrane GF/F combined with pre-filter was also feasible in filtering natural water samples with viral yields from 1.98 to 7.33%. The methods described can be used for monitoring fresh and seawater samples for the presence of AIV and to determine the source of AIV transmission in an outbreak situation.