Fully automated FISH examination of amniotic fluid cells

Objective Fluorescence in situ hybridization (FISH) analysis has become a valuable adjunct in cytogenetics, providing a rapid screen for common chromosome abnormalities that is particularly helpful in prenatal diagnosis. FISH analysis using standard microscopy is expensive and labor intensive, requiring both a high skill level and subjective signal interpretation. A reliable fully automated system for FISH analysis could improve laboratory efficiency and potentially reduce errors and costs. Methods The efficacy of an automated system was compared to standard manual FISH analysis. Two sets of slides were generated from each of 152 amniotic fluid samples. Following hybridization with a standard panel of five chromosome FISH probes, one set of slides was evaluated using manual microscopy. The other set was evaluated using an automated microscopy system. Results A diagnostic outcome was obtained for all 152 samples using manual microscopy and for 146 of 152 (96%) samples using automated microscopy. Three cases of aneuploidy were detected. For those samples for which a diagnostic outcome was determined by both manual and automated microscopy, 100% concordance was observed. All FISH analysis results were confirmed by karyotype. Conclusion These data suggest that an automated microscopy system is capable of providing accurate and rapid enumeration of FISH signals in amniocytes. Copyright © 2007 John Wiley & Sons, Ltd.     

Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis

Isolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation pathway. In its classical, severe form, sulfite oxidase deficiency leads to intractable seizures, severe and progressive brain pathology and death at an early age. We report here on clinical features and mutational analysis of the genetic defect in a newborn with sulfite oxidase deficiency. Cultured fibroblasts from this patient exhibited no detectable sulfite oxidase activity, and a unique four base pair deletion was present in the cDNA isolated from the same source. Identification of the same genetic defect in a heterozygous state in each of the parents and the monitoring of subsequent pregnancies in this family by DNA-based prenatal diagnosis are also described. The deletion mutation was identified in a homozygous state in uncultured chorionic villus tissue from the second pregnancy that was subsequently terminated. In the third pregnancy, the presence of sulfite oxidase activity and identification of the mutation in a heterozygous state suggested that the fetus was not affected. This pregnancy resulted in the birth of a normal child. Copyright © 2002 John Wiley & Sons, Ltd.     

Valuing Water Rights in Douglas County,Oregon, Using the Hedonic Price Method1

Abstract: This paper uses the hedonic price method to estimate the value of an acre‐foot of irrigation water in Douglas County, Oregon. The analysis uses detailed information from 113 arms‐length transactions of farmland for 2000 and 2001. The estimated willingness‐to‐accept of $261 to sell an acre‐foot of irrigation water is consistent with other studies and recent transactions in the study area. Estimates for the value of leasing water are provided using a range of discount rates and leasing periods.     

Variation in Sensitivity of Aquatic Species to Toxicants: Practical Consequences for Effect Assessment of Chemical Substances

5 –10⁶ times higher compared with less sensitive species. The use of assessment factors in effect assessment procedures may lead to an underestimation of effects on the more sensitive species. For many priority pollutants there is little information on their ecotoxicity. Predictive techniques are needed to compensate for this lack of data. Knowledge of the relation between modes of action of compounds and interspecies variation in sensitivity should be integrated in risk assessment procedures in order to make more efficient use of the limited financial resources available.     

Effect of K and bentonite additions on Cs-transfer to ryegrass

Bentonite amendments are generally ineffective in reducing the soil-to-plant radiocaesium transfer but have previously been shown that bentonites in the K-form having been subjected to wetting-drying cycles had pronounced radiocaesium binding capacities. We have investigated the effect of wetting-drying (WD) on Radiocaesium Interception Potential (RIP) development in three K-bentonites and K-bentonite soil mixtures, using a variety of procedures: homogenisation of the bentonites with K through dialysis (K(B)), or partial transformation of the bentonite to the K-form in the presence of a solution of K2CO3 (K(L)) or in presence of solid K2CO3 (K(S)). Of the three strategies tested, addition of K2CO3 (solid) at a dose of 2 meq g(-1) clay and adding the K-bentonite mixtures to the soil resulted in the highest RIP increase after 20 WD cycles. The procedure giving the highest RIP yield is the most practical for further applications and was used in a pot experiment under greenhouse condition. When expressing the RIP increase of the soil-bentonite mixtures per unit bentonite added (RIP yield), 28- to 110-fold RIP increases were observed up to a value of approximately 60,000 meq kg(-1) (6 times higher than the RIP for illite). The beneficial effect following K-bentonite application was shown to be dependent both on a sorption enhancement effect (direct RIP effect) and fixation effects (indirect RIP effect). Greenhouse testing proved that the RIP effects observed in greenhouse could be predicted by making use of the sorption data from the laboratory tests. Optimum soil-amendment would be obtained with bentonites with high initial sorption RIP and a high sorption RIP increase when subjected to WD in the presence of potassium. Hypothised Transfer Factor (TF)-reductions of at least 10-fold could result when mixing approximately 1% bentonite, like Otay bentonite (RIP yield 99,000 meq kg(-1) after WD in presence of K if only fine particle size of <1mm considered) with the contaminated ploughing layer.     

Impingement losses of white perch at Hudson River power plants: Magnitude and biological significance

We performed a quantitative assessment of the impact of impingement at power plants on the Hudson River white perch population We estimated that impingement reduces the abundance of each white perch year class by at least 10% and probably by 15–20% or more after 2–3 years of vulnerability to power plants We attempted to detect effects of impingement on average year-class abundance of white perch from a time series of abundance indices derived from impingement data We found, however, that neither impingement collection rates observed at Hudson River power plants nor beach seine data provide a reliable index of year-class strength in white perch. Even if a reliable index were developed, natural fluctuations in year-class strength are great enough that a short-term monitoring program would be inadequate for detecting even a large reduction in average year-class strength. We performed a multipopulation analysis using simple food chain and food web models The results suggest that any long-term decline in white perch abundance caused by impingement should be accompanied by an increase in the abundance of one or more competing fish species and by an increase in the biomass of adult white perch relative to young-of-the-year.We conclude that 1) at present, assessments of population-level impact of impingement should focus on short-term effects, 2) research is needed to develop a reliable index of year-class strength for use in long-term monitoring programs, 3) identification and quantification of natural environmental factors influencing year-class strength are needed to improve our ability to predict and detect changes in abundance, and 4) it would be useful in designing monitoring programs to focus on detecting patterns of change among populations and age groups rather than solely on declines in abundance of individual populationsResearch sponsored by the Office of Nuclear Regulatory Research, US Nuclear Regulatory Commission under Interagency Agreement No. 40-550-75 with the US Department of Energy under Contract W-7405-eng-26 with Union Carbide Corporation. Publication No. 2030, Environmental Sciences Division, ORNL.     

Semilobar holoprosencephaly in a 46,XY female fetus

We report the prenatal echographic diagnosis of holoprosencephaly (HPE) at 11 weeks' gestation. Fetopathological examination revealed an unusual variant of semilobar HPE with middle interhemispheric fusion associated with sex-reversal: 46,XY normal male karyotype, normal external and internal female genitalia and streak gonads. Copyright © 2001 John Wiley & Sons, Ltd.