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.     

Numerical modelling of horizontal sediment-laden jets

Sediment-laden turbulent flows are commonly encountered in natural and engineered environments. It is well known that turbulence generates fluctuations to the particle motion, resulting in modulation of the particle settling velocity. A novel stochastic particle tracking model is developed to predict the particle settling out and deposition from a sediment-laden jet. Particle velocity fluctuations in the jet flow are modelled from a Lagrangian velocity autocorrelation function that incorporates the physical mechanism leading to a reduction of settling velocity. The model is first applied to study the settling velocity modulation in a homogeneous turbulence field. Consistent with basic experiments using grid-generated turbulence and computational fluid dynamics (CFD) calculations, the model predicts that the apparent settling velocity can be reduced by as much as 30 % of the stillwater settling velocity. Using analytical solution for the jet mean flow and semi-empirical RMS turbulent velocity fluctuation and dissipation rate profiles derived from CFD predictions, model predictions of the sediment deposition and cross-sectional concentration profiles of horizontal sediment-laden jets are in excellent agreement with data. Unlike CFD calculations of sediment fall out and deposition from a jet flow, the present method does not require any a priori adjustment of particle settling velocity.     

Reservoir‐host amplification of disease impact in an endangered amphibian

Emerging wildlife pathogens are an increasing threat to biodiversity. One of the most serious wildlife diseases is chytridiomycosis, caused by the fungal pathogen, Batrachochytrium dendrobatidis (Bd), which has been documented in over 500 amphibian species. Amphibians vary greatly in their susceptibility to Bd; some species tolerate infection, whereas others experience rapid mortality. Reservoir hosts—species that carry infection while maintaining high abundance but are rarely killed by disease—can increase extinction risk in highly susceptible, sympatric species. However, whether reservoir hosts amplify Bd in declining amphibian species has not been examined. We investigated the role of reservoir hosts in the decline of the threatened northern corroboree frog (Pseudophryne pengilleyi) in an amphibian community in southeastern Australia. In the laboratory, we characterized the response of a potential reservoir host, the (nondeclining) common eastern froglet (Crinia signifera), to Bd infection. In the field, we conducted frog abundance surveys and Bd sampling for both P. pengilleyi and C. signifera. We built multinomial logistic regression models to test whether Crinia signifera and environmental factors were associated with P. pengilleyi decline. C. signifera was a reservoir host for Bd. In the laboratory, many individuals maintained intense infections (>1000 zoospore equivalents) over 12 weeks without mortality, and 79% of individuals sampled in the wild also carried infections. The presence of C. signifera at a site was strongly associated with increased Bd prevalence in sympatric P. pengilleyi. Consistent with disease amplification by a reservoir host, P. pengilleyi declined at sites with high C. signifera abundance. Our results suggest that when reservoir hosts are present, population declines of susceptible species may continue long after the initial emergence of Bd, highlighting an urgent need to assess extinction risk in remnant populations of other declined amphibian species.     

Assessing soil and groundwater contamination in a metropolitan redevelopment project

The purpose of this study was to assess contaminated soil and groundwater for the urban redevelopment of a rapid transit railway and a new mega-shopping area. Contaminated soil and groundwater may interfere with the progress of this project, and residents and shoppers may be exposed to human health risks. The study area has been remediated after application of first remediation technologies. Of the entire area, several sites were still contaminated by waste materials and petroleum. For zinc (Zn) contamination, high Zn concentrations were detected because waste materials were disposed in the entire area. For petroleum contamination, high total petroleum hydrocarbon (TPH) and hydrocarbon degrading microbe concentrations were observed at the depth of 7 m because the underground petroleum storage tank had previously been located at this site. Correlation results suggest that TPH (soil) concentration is still related with TPH (groundwater) concentration. The relationship is taken into account in the Spearman coefficient (α).     

Characterization of the monthly variation in (1 → 3)-β-d-glucan concentrations in university laboratories

We characterize the monthly variation in (1 → 3)-β-d-glucan concentration measured over the course of 1 year, and we evaluate the characteristics of size selection using a two-stage cyclone sampler. The (1 → 3)-β-d-glucan concentrations were measured in four bio-related laboratories. A total of 156 samples were collected using a new two-stage cyclone sampler. Analysis of (1 → 3)-β-d-glucan was performed using the kinetic Limulus amebocyte lysate assay. The study showed that airborne (1 → 3)-β-d-glucan concentrations were significantly higher in laboratory D (mean ± SD 1,105?±?1,893 pg/m³) and in the spring (5,458 pg/m³). The highest concentration of (1 → 3)-β-d-glucan occurred in the spring, particularly in May.     

Investigating the spatial distribution of phototrophic picoplankton in a tropical estuary

We sampled extensively (29 stations) at the Klang estuarine system over a 3-day scientific expedition. We measured physical and chemical variables (temperature, salinity, dissolved oxygen, total suspended solids, dissolved inorganic nutrients) and related them to the spatial distribution of phototrophic picoplankton (Ppico). Multivariate analysis of variance of the physicochemical variables showed the heterogeneity of the Klang estuarine system where the stations at each transect were significantly different (Rao’s F _{18, 36}?=?8.401, p?<?0.001). Correlation analyses also showed that variables related to Ppico abundance and growth were mutually exclusive. Distribution of Ppico was best explained by the physical mixing between freshwater and seawater whereas Ppico growth was correlated with temperature.     

The interaction between physical and social-psychological factors in indoor environmental health

Indoor environmental health is now recognized as an important factor in preventing respiratory health problems in the United States. It is also a concern in Canada due to the amount of time that Canadians spend indoors because of cold weather and the potential for increased time indoors during the summer if theclimate warms. The negative health effects are often labeled assick building syndrome, but diagnosing a building or itsoccupants as sick is complicated by the variety of symptoms, thepresence of chronic versus acute symptoms and social andpsychological (socio-psychological) factors that may reduce theeffectiveness of an engineering solution. As a case study, thecontribution of various factors to indoor environmental health,in three buildings at the University of Toronto, was examinedusing five different methods. The results indicate that theinhabitants of the buildings consider features other than airquality in considering building health such as design,maintenance, funding cuts and socio-psychological factors.     

Effect of temperature on single and competitive adsorptions of Cu(II) and Zn(II) onto natural clays

This study conducted a combined adsorption-sequential extractionanalysis (CASA), by which five phases (i.e., exchangeable, carbonate, Mn-Oxide, organic, and Fe-Oxide phases) of adsorbed heavy metals were analyzed, to investigate temperature effects on single and competitive adsorptions of Zn(II) and Cu(II) ontonatural clays. In the case of single adsorption of Zn, the exchangeable phase adsorption decreased from 65 to 40%, but thecarbonate phase adsorption increased from 30 to 40%, with an increase in temperature from 15 to 55 °C. However, in itscompetitive adsorption with Cu, Zn was mostly present in the exchangeable phase (over 90%), and with an increase in temperature, the exchangeable phase adsorption decreased only 10%. In the case of Cu, over 50% among the total amount of adsorption was present in the carbonate phase in both cases ofsingle and competitive adsorptions. The carbonate phaseadsorption of Cu increased from 56 to 61% and from 60 to 66% in single and competitive adsorptions, respectively, with atemperature increase. These results show that in the case of Zn,the major mechanism of retention in natural clay soils might beexchangeable phase adsorption, especially in the case of competitive adsorption with Cu. However, in the case of Cu, the major mechanism might be carbonate phase adsorption, which is known to be a more immobile phase than exchangeable phase adsorption. It seems that the adsorption of Zn and Cu onto natural clays is an endothermic reaction, which represents thatthe adsorption equilibrium constants and capacities increase with a temperature increase, with the exception of exchangeablephase adsorption.     

Evaluation of the relationship between two different methods for enumeration fecal indicator bacteria： Colony-forming unit and most probable number

Most probable number (MPN) and colony-forming unit (CFU) estimates of fecal indicator bacteria (FIB) concentration are common measures of water quality in aquatic environments. Thus, FIB intensively monitored in Yeongsan Watershed in an attempt to compare two di erent methods and to develop a statistical model to convert from CFU to MPN estimates or vice versa. As a result, the significant di erence was found in the MPN and CFU estimates. The enumerated Escherichia coli concentrations in MPN are greater than those in CFU, except for the measurement in winter. Especially in fall, E. coli concentrations in MPN are one order of magnitude greater than that in CFU. Contrarily, enterococci bacteria in MPN are lower than those in CFU. However, in general, a strongly positive relationship are found between MPN and CFU estimates. Therefore, the statistical models were developed, and showed the reasonable converting FIB concentrations from CFU estimates to MPN estimates. We expect this study will provide preliminary information towards future research on whether di erent analysis methods may result in di erent water quality standard violation frequencies for the same water sample.     

Investigation of physico-chemical properties and microbial community during poultry manure co-composting process

Co-composting of poultry manure and rubber wood sawdust was performed with the ratio of 2:1(V/V) for a period of 60 days. An investigation was carried out to study the extracellular enzymatic activities and structural degradation utilizing Fourier transform infrared spectroscopy(FT-IR), thermogravimetry and differential thermal analysis(TG/DTA)and scanning electron microscopy(SEM). The microbial succession was also determined by using denaturing gel gradient electrophoresis(DGGE). The compost was able to reach its highest temperature of 71°C at day 3 and stabilized between 30 and 40°C for 8 weeks.CMCase, FPase and β-glucosidase acted synergistically in order to degrade the cellulosic substrate. The xylanase activities increased gradually during the composting and reached the peak value of 11.637 U/g on day 35, followed by a sharp decline. Both Li P and Mn P activities reached their peak values on day 35 with 0.431 and 0.132 U/g respectively. The FT-IR spectra revealed an increase in aromaticity and a decrease in aliphatic compounds such as carbohydrates as decomposition proceeded. TGA/DTG data exhibited significant changes in weight loss in compost samples, indicating degradation of organic matter. SEM micrographs showed higher amounts of parenchyma exposed on the surface of rubber wood sawdust at day 60, showing significant degradation. DGGE and 16 S r DNA analyses showed that Burkholderia sp., Pandoraea sp., and Pseudomonas sp. were present throughout the composting process. Ornithinibacillus sp. and Castellaniella ginsengisoli were only found in the initial stage of the composting, while different strains of Burkholderia sp. also occurred in the later stage of composting.