Preimplantation genetic diagnosis for single gene disorders: experience with five single gene disorders

We report our experience of 14 preimplantation genetic diagnosis (PGD) cycles in eight couples carrying five different single gene disorders, during the last 18 months. Diagnoses were performed for myotonic dystrophy (DM), cystic fibrosis (CF) [ΔF508 and exon 4 (621+1 G>T)], fragile X and CF simultaneously, and two disorders for which PGD had not been previously attempted, namely neurofibromatosis type 2 (NF2) and Crouzon syndrome. Diagnoses for single gene disorders were carried out on ideally two blastomeres biopsied from Day 3 embryos. A highly polymorphic marker was included in each diagnosis to control against contamination. For the dominant disorders, where possible, linked polymorphisms provided an additional means of determining the genotype of the embryo hence reducing the risk of misdiagnosis due to allele dropout (ADO). Multiplex fluorescent polymerase chain reaction (F-PCR) was used in all cases, followed by fragment analysis and/or single-stranded conformation polymorphism (SSCP) for genotyping. Embryo transfer was performed in 13 cycles resulting in one biochemical pregnancy for CF, three normal deliveries (a twin and a singleton) and one early miscarriage for DM and a singleton for Crouzon syndrome. In each case the untransferred embryos were used to confirm the diagnoses performed on the biopsied cells. The results were concordant in all cases. The inclusion of a polymorphic marker allowed the detection of extraneous DNA contamination in two cells from one case. Knowing the genotype of the contaminating DNA allowed its origin to be traced. All five pregnancies were obtained from embryos in which two blastomeres were biopsied for the diagnosis. Our data demonstrate the successful strategy of using multiplex PCR to simultaneously amplify the mutation site and a polymorphic locus, fluorescent PCR technology to achieve greater sensitivity, and two-cell biopsy to increase the efficiency and success of diagnoses. Copyright © 2002 John Wiley & Sons, Ltd.     

Measuring safety climate in aviation: A review and recommendations for the future

This paper reviews 23 studies that have examined safety climate within commercial and military aviation. The safety climate factors identified in the aviation safety climate questionnaires were found to be consistent with the literature examining safety climate in non-aviation high reliability organizations. Therefore, it was concluded that the aviation safety climate tools had some construct validity (the extent to which the questionnaire measures what it is intended to measure). However, the majority of the studies made no attempt to establish the discriminate validity (the ability of the tool to differentiate between organizations or personnel with different levels of safety performance) of the tools. It is recommended that rather than constructing more aviation safety climate questionnaires, researchers should focus on establishing the construct and discriminate validity of existing measures by correlating safety climate with other metrics of safety performance. It is recognized that the accident rate in commercial aviation is too low to provide a sufficiently sensitive measure of safety performance. However, there are other measures of safety performance, collected as part of a company’s Aviation Safety Action Program or Flight Operational Quality Assurance, which could be used to assess the discriminate validity of an aviation safety climate tool.     

Perceptions of postural stability after transitioning to standing among construction workers

Falls are a leading cause of fatal and nonfatal injuries in the construction trades. This study explored construction workers’ self-reports of postural stability upon standing after working in different postures. One hundred and eighty-nine workers in 10 construction trades provided stability ratings by completing a written questionnaire. Additional data collected included age, gender, years of experience, and rating of overall balance. Construction workers rated their overall balance as high, furthermore, no difference was found between trades or age groups. Significant differences in stability ratings were provided for the various postures. The most commonly used non-erect postures (bent over at waist, squatting, and forward kneeling) resulted in the largest self-reports of instability. Sitting on elevated surface and sitting on level surface resulted in the highest levels of self-reported stability and are recommended when maintaining balance is a concern. Differences associated with construction trade and age were also found, but were thought to be attributed to differences in tasks performed since no differences were found when each posture was analyzed separately. The results suggest that the working posture used to complete a task affects the postural stability upon standing regardless of construction trade and age of worker. Findings may lead to recommendations for redesign of tasks or tools to reduce the use of certain working postures, particularly in high-risk environments such as construction.     

Only carapace or the entire cephalothorax: which is best to obtain chitosan from shrimp fishery waste?

Journal of Material Cycles and Waste Management - The polysaccharide chitin (CHIT), extracted mainly from exoskeletons of crustaceans, can be obtained from shrimp fishery waste. It is the source of...     

Urban air pollution monitoring and correlation properties between fixed-site stations

The rich regional air-monitoring network of the Emilia-Romagna region of Italy has been used to quantify the spatial variability of the main pollutants within urban environments and to analyze the correlations between stations. The spatial variability of the concentrations of the majority of pollutants within the city was very high, making it difficult to differentiate and characterize the urban environments and to apply legal limits with uniform criteria. On the other hand, the correlations between the fixed-site monitoring stations were high enough for their data to be retained generally very appropriately for controlling temporal trends. Starting from the high correlation level, a procedure was proposed and tested to derive pollution levels, using short-term measurements, such as passive samplers and mobile-station data. The importance of long-term statistics in urban air pollution mapping was emphasized. Treatment of missing data in time series and quality assurance were indicated as possible fields for applications for the correlation properties.