Prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) with alobar holoprosencephaly and premaxillary agenesis

A prenatal diagnosis of partial monosomy 18p(18p11.2→pter) and trisomy 21q(21q22.3→qter) in a fetus with alobar holoprosencephaly (HPE) and premaxillary agenesis (PMA) but without the classical Down syndrome phenotype is reported. A 27-year-old primigravida woman was referred for genetic counselling at 21 weeks' gestation due to sonographic findings of craniofacial abnormalities. Level II ultrasonograms manifested alobar HPE and median orofacial cleft. Cytogenetic analysis and fluorescence in situ hybridization (FISH) on cells obtained from amniocentesis revealed partial monosomy 18p and a cryptic duplication of 21q,46,XY,der(18)t(18;21)(p11.2;q22.3), resulting from a maternal t(18;21) reciprocal translocation. The breakpoints were ascertained by molecular genetic analysis. The pregnancy was terminated. Autopsy showed alobar HPE with PMA, pituitary dysplasia, clinodactyly and classical 18p deletion phenotype but without the presence of major typical phenotypic features of Down syndrome. The phenotype of this antenatally diagnosed case is compared with those observed in six previously reported cases with monosomy 18p due to 18;21 translocation. The present study is the first report of concomitant deletion of HPE critical region of chromosome 18p11.3 and cryptic duplication of a small segment of distal chromosome 21q22.3 outside Down syndrome critical region. The present study shows that cytogenetic analyses are important in detecting chromosomal aberrations in pregnancies with prenatally detected craniofacial abnormalities, and adjunctive molecular investigations are useful in elucidating the genetic pathogenesis of dysmorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

The influence of lindane and lindane metabolites on microsomal and mitochondrial ATPase in vitro

In vitro investigations of the influence of lindane and its metabolites were performed on microsomal and mitochondrial ATPases from liver, kidney and brain of rat and mouse. The microsomal Na+-K+-ATPases in rat liver were inhibited by the tested substances. An increase of activity was observed only with 2.5 X 10(-5) M gamma-HCH. Effects on the microsomal Na+-K+-ATPase from kidney and brain of rat were also indicated. The mitochondrial enzyme in rat liver was stimulated by all the compounds tested at concentrations of 10(-4) M - 10(-2) M. The effects on mitochondrial enzymes from kidney and brain varied in dependence on the tested substances. In the microsomes and mitochondria of mouse an influence on the Na+-K+-ATPases similar to the effects on the preparations from organs of rat was evident.     

Some observations of the structure of the choroid plexus and its cysts

The structure of the choroid plexus was studied in five normal human embryos, three normal fetuses and three fetuses with choroid plexus cysts. These were detected by ultrasound and the fetuses were karyotypically normal. The choroid plexus appears in the lateral cerebral ventricles at the seventh developmental week. The early structure is lobulated with vessels running in the mesenchymal stroma and forming capillary nets under the single-layered ependymal epithelium. This embryonal structure is converted into the fetal type during the ninth developmental week as the embryonal capillary net is replaced by elongated loops of wavy capillaries that lie under regular longitudinal epithelial folds. The choroid plexus cysts exhibited accumulation of fluid within distended mesenchymal stroma and did not show the wavy folds on this surface, which was smooth. Within this connective tissue of the cyst wall were distended angiomatous interconnecting thin-walled capillaries. Therefore, filled cavities were not lined by any epithelium. We suggest that fetal choroid plexuses cysts (at least in many cases) are in fact pseudocysts exhibiting angiomatous patterns of capillaries in their walls. Copyright © 2002 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.     

Multicriteria Group Decision-making Model for Environmental Conflict Analysis in the Cape Region,Mexico

This paper is concerned with developing a model for group decision making under multiple criteria. The multiple criteria group decision making (MCGDM)problem involves a set of feasible land use patterns that are evaluated on the basis of multiple, conflicting and noncommensurate criteria by a group of individuals. The model integrates the Analytic Hierarchy Process (AHP) and an integer mathematical programming method. The former provides a tool for structuring the decision problem and determining land suitability for different socio-economicactivities (the uses of land), the latter is used to identify the land use pattern that maximizes consensus among interest groups. The model is used to analyze environmental conflict over land resource allocation in the Cape Region of Mexico.