Sampling strategies in the assessment of long‐term exposures to toxic substances in air

The decision to mitigate exposures from vapor intrusion (VI) is typically based on limited data from 24‐hour air samples. It is well documented that these data do not accurately represent long‐term average exposures linked to adverse health effects. Limited decision guidance is currently available to determine the most appropriate sampling strategy, considering the cost of sampling alternatives along with the economic consequences of exposure‐related health effects. We present a decision model that introduces economic and statistical considerations in evaluating alternative VI sampling methods. The model characterizes the best sampling method by factoring economic and health consequences of exposure, the variability of exposure, the cost of sampling and mitigation, and the likelihood of false‐negatives and false‐positives. Decision‐makers can use results to select the sample size that maximizes net benefit. Conceptual and mathematical models are presented linking biological, statistical, and economic considerations to assess the cost and effectiveness of different sampling strategies. The model relates an average exposure concentration, determined statistically, to abatement costs and to the monetary value of health deterioration. The value of the information provided by different strategies is calculated and used to select the optimum sampling method. Simulations show that longer‐term sampling methods tend to be more accurate and cost‐effective than short‐term samples. The ideal sampling strategy shows significant seasonal variation (it is typically optimal to use longer samples in the winter) and also varies significantly with the stringency of regulatory standards. Longer‐term sample collection provides a more accurate representation of average VI exposure and reduces the likelihood of type I and type II errors. This reduces expected costs of mitigation and exposure (e.g., health consequences, legal and regulatory penalties), which in some cases can be quite significant. The model herein shows how these savings are balanced against the additional costs of longer‐term sampling.     

Methyl methacrylate (MMA) and alumina recovery from waste artificial marble powder pyrolysis

Journal of Material Cycles and Waste Management - Owing to various advantages of artificial marble compared to natural marble, its application has been rising exponentially, which has resulted in...     

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.     

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

Single cell polymerase chain reaction (PCR) for preimplantation genetic diagnosis (PGD) requires high efficiency and accuracy. Allele dropout (ADO), the random amplification failure of one of the two parental alleles, remains the most significant problem in PCR-based PGD testing since it can result in serious misdiagnosis for compound heterozygous or autosomal dominant conditions. A number of different strategies (including the use of lysis buffers to break down the cell and make the DNA accessible) have been employed to combat ADO with varying degrees of success, yet there is still no consensus among PGD centres over which lysis buffer should be used (ESHRE PGD Consortium, 1999 ). To address this issue, PCR amplification of three genes (CFTR, LAMA3 and PKP1) at different chromosomal loci was investigated. Single lymphocytes from individuals heterozygous for mutations within each of the three genes were collected and lysed in either alkaline lysis buffer (ALB) or proteinase K/SDS lysis buffer (PK). PCR amplification efficiencies were comparable between alkaline lysis and proteinase K lysis for PCR products spanning each of the three mutated loci (ΔF508 in CFTR 90% vs 88%; R650X in LAMA3 82% vs 78%; and Y71X in PKP1 91% vs 87%). While there was no appreciable difference between ADO rates between the two lysis buffers for the LAMA3 PCR product (25% vs 26%), there were significant differences in ADO rates between ALB and PK for the CFTR PCR product (0% vs 23%) and the PKP1 PCR product (8% vs 56%). Based on these results, we are currently using ALB in preference to PK/SDS buffer for the lysis of cells in clinical PGD. Copyright © 2001 John Wiley & Sons, Ltd.