Prenatal diagnosis of mosaicism for triploidy and trisomy 13

Mosaicism for trisomy 13 and triploidy was detected by amniocentesis performed at 18 weeks' gestation because of fetal anomalies. Pregnancy continued and a live-born male was delivered vaginally at 37 weeks. The infant had features common to both trisomy 13 and triploidy: intrauterine growth retardation (IUGR), small abnormal ears, cleft palate, and a small jaw. In addition, he had complete cutaneous syndactyly of fingers 3 and 4 and partial syndactyly of the toes, as seen in triploidy. Mixoploidy for trisomy 13 and triploidy was confirmed postnatally in blood, skin, and placenta. Examination of chromosome heteromorphisms and DNA markers suggested the presence of two maternal contributions in the triploid cell line. In addition, the extra chromosome 13 in the trisomic cell line was derived from the mother. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Apert syndrome: report of two cases

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound. Copyright © 2003 John Wiley & Sons, Ltd.     

The role of new technologies in reducing energy demand

Energy efficiency is often stated to be the most cost-effective measure for satisfying our energy demand with minimal environmental damage. However, the potential energy savings attainable in 'the real world' are frequently overestimated, as is shown in an industrial case study of the glass industry. Nevertheless, there are significant energy savings to be realized, and the role of new technologies in this is important. However, the key to the effective use of new technology for improved energy efficiency is good management and. for best effect, it must be integrated into the normal resource management activities of a company.     

Taking Sustainable Cities Seriously: a comparative analysis of twenty-four US cities

After briefly reviewing some conceptual underpinnings of sustainable cities, this paper analyses and compares sustainable cities initiatives in 24 US cities. The central question addressed in the paper is why some cities seem to take sustainability more seriously than others. Numerous demographic, socioeconomic and other characteristics of the cities are correlated with an Index of Taking Sustainability Seriously, which is a composite of some 34 different variables indicating whether each city engages in specific sustainability programmes, policies or activities. Many of the standard explanations, such as the income and wealth of the community, the liberalness of the city and the growth pressures placed on the city, are found to exhibit no correlation with the seriousness of the sustainability effort. What do correlate with the Index are: reliance on manufacturing, where having more residents employed in manufacturing industries is associated with less seriousness; and, the age of the population, where cities with older populations take sustainability more seriously. This has three implications for the future development of sustainable cities. First, some of the cities that might be said to need sustainability programmes the most--cities with heavy manufacturing that are more prone to pollution production--are the least likely to take such programmes seriously. Secondly, as cities' manufacturing bases decline, they should find it increasingly feasible to engage in sustainability initiatives. And, thirdly, as the populations of cities age, policy-makers should also find it easier to support, develop and take seriously sustainability programmes.     

全球粮食生产的预测问题

本文讨论了全球粮食生产体系能力预测模型的研发问题，文章特别对影响粮食生产的各种因素进行了鉴定和分析，并且对它们的相对影响和可预测性进行了估计。