First trimester diagnosis of lesch-nyhan syndrome: Applications to other disorders of purine metabolism

The prenatal detection of hypoxanthine phosphoribosyltransferase (HPRT, EC 2.4.2.8) deficiency, the Lesch-Nyhan syndrome, during the first trimester of an affected pregnancy through the use of chorionic villus sampling is reported. Quantitation of reaction products formed by villus cell extracts from exogenous hypoxanthine-8-[¹⁴C] or adenine-8-[¹⁴C] is used in diagnosis. We report the diagnosis of Lesch-Nyhan syndrome using a chorionic villus specimen and confirmation of that diagnosis. In addition, adenosine deaminase (ADA) and purine nucleoside phosphorylase (PNP), enzymes deficient in inherited immune disorders, are detected in chorionic villus samples. These heritable disorders also appear amenable to early prenatal diagnosis.     

Fetal cells and DNA in maternal blood

Although fetal cells have been known to escape to the maternal circulation for a number of years, research attempts to use them for prenatal diagnosis have not had any consistent success. This review attempts to trace the history of such attempts and to document their progress and reasons for success or failure. The opinions of recent conferences including that of the US National Institute of Child Health and Human Development, a sponsor of major US research in the field, are reported and discussed. It is concluded that although basic work has demonstrated the biologic availability of both fetal cells and their free DNA representatives in the maternal circulation at gestational ages relevant to prenatal diagnosis, much work remains to develop practical technology for their consistent recovery and assay. Copyright © 2003 John Wiley & Sons, Ltd.     

Interactions of chlorpyrifos with colloidal materials in aqueous systems

An understanding of sorptive processes is key to describing the fate of chlorpyrifos [O,O-diethyl-O-(3, 5, 6-trichloro-2-pyridyl) phosphorothioate] in aquatic environments. The objectives of this study were to evaluate isotherms for adsorption and desorption of chlorpyrifos on colloidal materials and to advance understanding of interaction mechanisms between chlorpyrifos and colloidal materials. Six Ca-saturated reference smectites, one Ca-saturated humic acid (Ca-humate), and one suspended sediment sample, collected from the Upper Cedar River, Iowa, were studied. A batch equilibration technique was employed to quantify adsorption and desorption isotherms for chlorpyrifos over the 0 to 100 microg L(-1) concentration range in a 0.01 M CaCl(2) background. Large differences in sorption affinity and variation in desorption hysteresis were found among the smectites. Neither chlorpyrifos adsorption nor its desorption were correlated with cation exchange capacity, surface area, or surface charge density of the smectites. The evidence suggests that physical interaction between chlorpyrifos and smectites is the dominant mechanism for adsorption of chlorpyrifos in aqueous systems. Chlorpyrifos was very strongly sorbed on Ca-humate and was not desorbed from the Ca-humate back into the aqueous solution. Chlorpyrifos was moderately sorbed on river sediment, and a large adsorption-desorption hysteresis was also found. The study implies that the nature of both organic and inorganic materials in suspended sediment can influence the adsorption-desorption behavior of chlorpyrifos in aqueous systems.     

Sulfur isotopes link overwinter habitat use and breeding condition in Double-crested Cormorants.

North American Double-crested Cormorant (Phalacrocorax auritus) populations have increased greatly. Both breeding and overwintering ground factors have likely contributed to these increases. However, demonstrating how overwintering conditions may affect breeding birds has not been possible because of the difficulty in linking breeding birds to their wintering grounds. Here, we demonstrate the utility of stable sulfur isotopes to elucidate overwintering habitat use by cormorants breeding on Lake Erie. Sulfur isotopes in feathers grown on overwintering grounds provided insights into the degree to which birds used freshwater vs. marine environments. The proportion of birds utilizing freshwater habitats increased through time. This change may have reflected increases in freshwater aquaculture (i.e., catfish) in the U.S. south. Examination of body condition in birds returning to breed on Lake Erie indicated that those individuals that solely used marine habitats for at least a portion of the overwintering period were in poorer condition than birds using freshwater. Enhanced foraging opportunities at aquaculture facilities may improve the fitness of individuals that have returned to breed after overwintering at such locations. This study is the first to demonstrate a linkage between overwinter habitat use and breeding ground parameters in Double-crested Cormorants. These results underscore that factors throughout the Mississippi flyway are likely acting together to regulate cormorant populations.     

A simple technique for obtaining high quality chromosome preparations from chorionic villus samples using FdU synchronization

A fluorordeoxyuridine (FdU) synchronization technique was applied to 30 chorionic villus samples (CVS) from patients undergoing first trimester fetal diagnosis. The villi were incubated for 15 h in the presence of FdU. The block in DNA synthesis was subsequently released using thymidine and after an additional 5 h of incubation the mitotic cells were arrested in metaphases using a high concentration of colcemid. This method results in improved morphology of the chromosomes and a high mitotic index. A diagnostic chromosome analysis could be obtained in each clinical case using at least 15 well-spread metaphases. G-banded karyotypes were prepared of four metaphases in each case. The diagnostic procedure was completed within 48 h from the time of CVS. Use of this technique significantly improves the success rate of ‘direct’ chromosome analyses from CVS in a busy cytogenetic laboratory.     

Risk and safety perception on urban and rural roads: Effects of environmental features,driver age and risk sensitivity

Objective: The ability to detect changing visual information is a vital component of safe driving. In addition to detecting changing visual information, drivers must also interpret its relevance to safety. Environmental changes considered to have high safety relevance will likely demand greater attention and more timely responses than those considered to have lower safety relevance. The aim of this study was to explore factors that are likely to influence perceptions of risk and safety regarding changing visual information in the driving environment. Factors explored were the environment in which the change occurs (i.e., urban vs. rural), the type of object that changes, and the driver's age, experience, and risk sensitivity.

Methods: Sixty-three licensed drivers aged 18–70 years completed a hazard rating task, which required them to rate the perceived hazardousness of changing specific elements within urban and rural driving environments. Three attributes of potential hazards were systematically manipulated: the environment (urban, rural); the type of object changed (road sign, car, motorcycle, pedestrian, traffic light, animal, tree); and its inherent safety risk (low risk, high risk). Inherent safety risk was manipulated by either varying the object's placement, on/near or away from the road, or altering an infrastructure element that would require a change to driver behavior. Participants also completed two driving-related risk perception tasks, rating their relative crash risk and perceived risk of aberrant driving behaviors.

Results: Driver age was not significantly associated with hazard ratings, but individual differences in perceived risk of aberrant driving behaviors predicted hazard ratings, suggesting that general driving-related risk sensitivity plays a strong role in safety perception. In both urban and rural scenes, there were significant associations between hazard ratings and inherent safety risk, with low-risk changes perceived as consistently less hazardous than high-risk impact changes; however, the effect was larger for urban environments. There were also effects of object type, with certain objects rated as consistently more safety relevant. In urban scenes, changes involving pedestrians were rated significantly more hazardous than all other objects, and in rural scenes, changes involving animals were rated as significantly more hazardous. Notably, hazard ratings were found to be higher in urban compared with rural driving environments, even when changes were matched between environments.

Conclusion: This study demonstrates that drivers perceive rural roads as less risky than urban roads, even when similar scenarios occur in both environments. Age did not affect hazard ratings. Instead, the findings suggest that the assessment of risk posed by hazards is influenced more by individual differences in risk sensitivity. This highlights the need for driver education to account for appraisal of hazards’ risk and relevance, in addition to hazard detection, when considering factors that promote road safety.