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.     

Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass

Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and autopsy of the fetus revealed multiple anomalies. Copyright © 2001 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.     

The importance of investigating for uniparental disomy in prenatally identified balanced acrocentric rearrangements

We report the finding of paternal isodisomy for chromosome 14 in a fetus found to have a der(14;14)(q10;q10) by amniocentesis. The pregnancy was complicated by severe polyhydramnios and elevated amniotic fluid alpha-fetoprotein (AFP). The infant showed features consistent with paternal uniparental disomy (UPD) including postnatal growth retardation, poor respiratory function, feeding difficulties, and evidence of hypertrophic cardiomyopathy. The present case, in addition to other reported cases of UPD involving balanced acrocentric rearrangements, supports testing for UPD in prenatally detected Robertsonian translocations and isochromosomes. Copyright © 2002 John Wiley & Sons, Ltd.     

Ecosystems and human health: The local benefits of forest cover in Indonesia

This paper documents the effect of primary forest cover loss on increased incidence of malaria. The evidence is consistent with an ecological response. I show that land use change, anti-malarial programs or migration cannot explain the effect of primary forest cover loss on increased malarial incidence. Falsification tests reveal that the effect is specific to malaria, with forest cover having no discernible effect on other diseases with a disease ecology different from that of malaria. Back-of-the-envelope calculations indicate that the morbidity-related malaria-reducing local benefits of primary forests are at least $1-$2 per hectare.     

The ecological insurance trap

Common pool resources often insure individual livelihoods against the collapse of private endeavors. When endeavors based on private and common pool resources are interconnected, investment in one can put the other at risk. We model Senegalese pastoralists who choose whether to grow crops, a private activity, or raise livestock on common pool pastureland. Livestock can increase the likelihood of locust outbreaks via ecological processes related to grassland degradation. Locust outbreaks damage crops, but not livestock, which are used for savings and insurance. We show the incentive to self-protect (reduce grazing pressure) or self-insure (increase livestock levels) changes with various property rights schemes and levels of ecological detail. If the common pool nature of insurance exacerbates the ecological externality even fully-informed individuals may make risk management decisions that increase the probability of catastrophe, creating an “insurance trap.”     

CEO education and corporate environmental footprint

We analyze the effect of CEO education on environmental decision-making. Using a unique sample of Danish firms from 1996 to 2012, we find that CEO education significantly improves firms' energy efficiency. We seek to derive causality using health shocks: the hospitalization of highly educated CEOs induces a drop in energy efficiency, whereas the hospitalization of less educated CEOs does not have any significant effect. Exploring the mechanisms at play, we show that our results are largely driven by advanced education in business degrees. Moreover, we show that CEO education is associated with greater environmental awareness: highly educated CEOs exhibit greater concerns for climate change, as measured by a survey of social preferences, and drive more environmentally efficient cars. Taken together, our findings suggest that education shapes managerial styles giving rise to greater sustainability in corporate actions.     

Experimental and CFD-DEM study of the dispersion and combustion of wheat starch and carbon-black particles during the standard 20L sphere test

The 20L sphere is one of the standard devices used for dust explosivity characterization. One concern about the effectiveness and reliability of this test is related to the particle size variation due to particles' agglomeration and de-agglomeration. These phenomena are related to the turbulent regime of the dust cloud during the dispersion. This variable must be considered since it determines the uncertainty level of the ignitability and severity parameters of dust combustion. In this context, this study describes the influence of the cloud turbulence on the dust segregation and fragmentation through a study combining both, experimental and computational approaches. The behavior of the gas-solid mixture evidenced with the standard rebound nozzle was compared with that observed with six new nozzle geometries. Thereafter, the time-variation of the Particle Size Distribution (PSD) within the 20L sphere was analyzed for two different powders: carbon-black and wheat starch. On the one hand, the turbulence levels and PSD variations were characterized by Particle Image Velocimetry (PIV) tests and granulometric analyses, respectively. On the other hand, a computational approach described the dispersion process with CFD-DEM simulations developed in STAR-CCM + v11.04.010. The simulation results established that the homogeneity assumption is not satisfied with the nozzles studied. Nonetheless, the particles segregation levels can be reduced using nozzles that generate a better dust distribution in the gas-solid injections. Subsequently, an additional first-approach CFD model was established to study the behavior of the combustion step for a starch/air mixture. This model considers the gas-phase reactions of the combustible gases that are produced from the devolatilization of wheat starch ($CO,C{H}_4,C_2{H}_4,C_2{H}_6,C_2{H}_2,$ and $H_2$) and allowed to establish the approximate fraction of the particle mass that devolatilizes, as well as to confirm that the modeling of the pyrolysis stage is essential for the correct prediction of the maximum rate of pressure rise.