Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd.     

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency. Copyright © 2006 John Wiley & Sons, Ltd.     

Structural chromosomal mosaicism and prenatal diagnosis

True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. Copyright © 2004 John Wiley & Sons, Ltd.     

Can climate mitigation help the poor? Measuring impacts of the CDM in rural China

This study examines whether investment in climate change mitigation contributes to poverty alleviation. We investigate the impacts of the renewable energy-based clean development mechanism (RE-CDM) projects on rural communities in China. The impacts of RE-CDM projects are estimated by combining propensity score matching with the difference-in-differences approach. We found that the biomass-based CDM projects significantly contribute to income improvement and employment generation in rural communities in China. Our estimation results also reveal that wind energy-based CDM projects have the potential to increase income and the share of labor force in the primary industry in rural areas. These results suggest different channels through which renewable energy sources affect income.     

Uncertainty, learning, and the optimal management of wildlife

Wildlife management is limited by uncontrolled and often unrecognized environmental variation, by limited capabilities to observe and control animal populations, and by a lack of understanding about the biological processes driving population dynamics. In this paper I describe a comprehensive framework for management that includes multiple models and likelihood values to account for structural uncertainty, along with stochastic factors to account for environmental variation, random sampling, and partial controllability. Adaptive optimization is developed in terms of the optimal control of incompletely understood populations, with the expected value of perfect information measuring the potential for improving control through learning. The framework for optimal adaptive control is generalized by including partial observability and non-adaptive, sample-based updating of model likelihoods. Passive adaptive management is derived as a special case of constrained adaptive optimization, representing a potentially efficient suboptimal alternative that nonetheless accounts for structural uncertainty.     

The apportionment of quadratic entropy: a useful alternative for partitioning diversity in ecological data

Many methods that study the diversity within hierarchically structured populations have been developed in genetics. Among them, the analysis of molecular variance (AMOVA) (Excoffier et al., 1992) has the advantage of including evolutionary distances between individuals. AMOVA is a special case of a far more general statistical scheme produced by Rao (1982a; 1986) and called the apportionment of quadratic entropy (APQE). It links diversity and dissimilarity and allows the decomposition of diversity according to a given hierarchy. We apply this framework to ecological data showing that APQE may be very useful for studying diversity at various spatial scales. Moreover, the quadratic entropy has a critical advantage over usual diversity indices because it takes into account differences between species. Finally, the differences that can be incorporated in APQE may be either taxonomic or functional (biological traits), which may be of critical interest for ecologists.     

Soil Lead at Elementary Public Schools: Comparison Between School Properties and Residential Neighbourhoods of New Orleans

Soil studies, conducted in Maryland, Minnesota and Louisiana, have described the urban pattern of lead contamination. They have shown that the highest amounts of lead cluster within the interior of the largest cities. The results of the New Orleans urban patterns of distribution of soil lead provided the basis for further study. The hypothesis was tested that elementary school properties have the same pattern of soil lead contamination as their neighbouring residential communities. Thirty New Orleans Public Elementary Schools were selected for this study. Surface samples (2.5cm or 1 inch depth) were collected from playgrounds and next to entrances of each school. Results showed that soil lead on school properties follows the same relative contamination patterns (pvalue10^–5) as soil lead on residential properties of neighbouring communities. Schools however, have significantly lower lead contamination than the neighbouring residential properties. Innercity school properties present a higher risk of soil lead exposure than mid and outercity schools. Soils next to innercity school entrances showed the highest lead, with 18.5% having concentrations over 400gg^–1. Systematic landscaping around the school entrances would significantly reduce the hazard from lead dust contaminated soils.