Prenatal diagnosis using deletion studies in Duchenne muscular dystrophy

Accurate carrier testing and prenatal diagnosis in Duchenne muscular dystrophy (DMD) families is facilitated when an Xp21 deletion is found to be segregating within a family. We discuss the results of the DNA testing in two families, one in which DNA from affected males was available for study and the other in which no DNA from an affected male was available. Factors complicating the counselling of DMD deletion families are outlined.     

Transition to self‐directed work teams: implications of transition time and self‐monitoring for managers' use of influence tactics

In the face of heightened competitive pressures, elevated quality expectations, and calls for worker empowerment, more and more organizations have turned to self‐directed work teams (SDWTs). A review of the literature devoted to SDWTs suggests that managers often struggle with the transition to SDWTs because of the required shift in control to SDWT members. To promote the development of work teams, managers must modify their use of influence tactics in direct response to the control shift. In this study, we explore changes in managers' usage of influence tactics during the transition to SDWTs within a large aluminum manufacturing plant. Analyses of longitudinal data show that despite the new team environment, managers' use of influence tactics was focused at the individual level. We also found that transition time accounts for variance in managers' choices of influence tactics. Finally, an exploratory analysis suggests that high as opposed to low self‐monitoring managers may be more prone to increase their usage of soft influence tactics and decrease their usage of hard influence tactics over the course of the transition; the influence behavior of low self‐monitoring managers remained unchanged. Implications for future research are discussed. Copyright © 2004 John Wiley & Sons, Ltd.     

ENHANCING FECAL COLIFORM TOTAL MAXIMUM DAILY LOAD MODELS THROUGH BACTERIAL SOURCE TRACKING1

ABSTRACT: Surface water impairment by fecal coliform bacteria is a water quality issue of national scope and importance. In Virginia, more than 400 stream and river segments are on the Commonwealth's 2002 303(d) list because of fecal coliform impairment. Total maximum daily loads (TMDLs) will be developed for most of these listed streams and rivers. Information regarding the major fecal coliform sources that impair surface water quality would enhance the development of effective watershed models and improve TMDLs. Bacterial source tracking (BST) is a recently developed technology for identifying the sources of fecal coliform bacteria and it may be helpful in generating improved TMDLs. Bacterial source tracking was performed, watershed models were developed, and TMDLs were prepared for three streams (Accotink Creek, Christians Creek, and Blacks Run) on Virginia's 303(d) list of impaired waters. Quality assurance of the BST work suggests that these data adequately describe the bacteria sources that are impairing these streams. Initial comparison of simulated bacterial sources with the observed BST data indicated that the fecal coliform sources were represented inaccurately in the initial model simulation. Revised model simulations (based on BST data) appeared to provide a better representation of the sources of fecal coliform bacteria in these three streams. The coupled approach of incorporating BST data into the fecal coliform transport model appears to reduce model uncertainty and should result in an improved TMDL.     

WATER QUALITY IMPROVEMENT PROGRAM EFFECTIVENESS FOR CARBONATE AQUIFERS IN GRAZED LAND WATERSHEDS1

ABSTRACT: Water quality indicators of two agriculturally impacted karst areas in southeastern West Virginia were studied to determine the water quality effects of grazing agriculture and water quality trends following initiation of water quality improvement programs. Both areas are tributaries of the Greenbrier River and received funding for best management practices under the President's Initiative for Water Quality and then under the Environmental Quality Incentives Program (EQIP). After 11 years of study there was little evidence to suggest that water quality improved in one area. Three and a half years of study in the other area showed little evidence of consistent water quality improvement under EQIP. Lack of consistent water quality improvement at the catchment scale does not imply that the voluntary programs were failures. Increased livestock numbers as a result of successful changes in forage management practices may have overridden water quality improvements achieved through best management practices. Practices that target well defined contributing areas significantly impacting aquifer water quality might be one way to improve water quality at catchment scales in karst basins. For example, a significant decrease in fecal coliform concentrations was observed in subterranean drainage from one targeted sinkhole after dairy cattle were permanently excluded from the sinkhole.     

Coastal flooding,climate change and environmental justice: identifying obstacles and incentives for adaptation in two metropolitan Boston Massachusetts communities

We explored the possible future impacts of increased coastal flooding due to sea level rise and the potential adaptation responses of two urban, environmental justice communities in the metropolitan Boston area of Massachusetts. East Boston is predominantly a residential area with some industrial and commercial activities, particularly along the coastal fringe. Everett, a city to the north of Boston, has a diversified industrial and commercial base. While these two communities have similar socioeconomic characteristics, they differ substantially in the extent to which residents would be impacted by increased coastal flooding. In East Boston, a large portion of residents would be flooded, while in Everett, it is the commercial/industrial districts that are primarily vulnerable. Through a series of workshops with residents in each community, we found that the target populations do not have an adaptation perspective or knowledge of any resources that could assist them in this challenge. Furthermore, they do not feel included in the planning processes within their communities. However, a common incentive for both communities was an intense commitment to their communities and an eagerness to learn more and become actively engaged in decisions regarding climate change adaptation. The lessons that can be applied to other studies include 1) images are powerful tools in communicating concepts, 2) understanding existing cultural knowledge and values in adaptation planning is essential to the planning process and 3) engaging local residents at the beginning of the process can create important educational opportunities and develop trust and consensus that is necessary for moving from concept to implementation.     

Exploring the role of emotional intelligence in behavior-based safety coaching

INTRODUCTION: Safety coaching is an applied behavior analysis technique that involves interpersonal interaction to understand and manipulate environmental conditions that are directing (i.e., antecedent to) and motivating (i.e., consequences of) safety-related behavior. A safety coach must be skilled in interacting with others so as to understand their perspectives, communicate a point clearly, and be persuasive with behavior-based feedback. METHOD: This article discusses the evidence-based "ability model" of emotional intelligence and its relevance to the interpersonal aspect of the safety coaching process. RESULTS: Emotional intelligence has potential for improving safety-related efforts and other aspects of individuals' work and personal lives. Safety researchers and practitioners are therefore encouraged to gain an understanding of emotional intelligence and conduct and support research applying this construct toward injury prevention.     

Mercury concentrations in wild mink (Mustela vison) and river otters (Lontra canadensis) collected from eastern and Atlantic Canada: relationship to age and parasitism

Total mercury (Hg) concentrations were measured in the fur, brain and liver of wild mink (Mustela vison) and river otters (Lontra canadensis) collected from eastern and Atlantic Canada. Total Hg concentrations in fur were strongly correlated with levels in the brain and liver. There was no difference in tissue concentrations between male and female mink; however, female otters had significantly higher fur, brain and liver Hg levels than males. Similarly, there was not a significant relationship between Hg concentration and age of mink, whereas in otters, Hg concentrations in all three tissues decreased significantly with age. In both species, only a very small percentage of the variability in Hg concentration was explained by age. After adjusting the data for site-to-site differences in Hg levels, Hg concentrations in the fur of mink infected by the parasite, Dioctophyma renale, were found to be significantly higher than Hg levels in uninfected mink.     

Modulation of steroidogenesis by coastal waters and sewage effluents of Hong Kong, China, using the H295R assay

BACKGROUND, AIM, AND SCOPE: The presence of a variety of pollutants in the aquatic environment that can potentially interfere with the production of sex steroid hormones in wildlife and humans has been of increasing concern. The aim of the present study was to investigate the effects of extracts from Hong Kong marine waters, and influents and effluents from wastewater treatment plants on steroidogenesis using the H295R cell bioassay. After exposing H295R cells to extracts of water, the expression of four steroidogenic genes and the production of three steroid hormones were measured. MATERIALS AND METHODS: Water samples were collected during the summer of 2005 from 24 coastal marine areas and from the influents and effluents of two major waste water treatment plants (WWTPs) in Hong Kong, China. Samples were extracted by solid phase extraction (SPE). H295R cells were exposed for 48 h to dilutions of these extracts. Modulations of the expression of the steroidogenic genes CYP19, CYP17, 3betaHSD2, and CYP11beta2 were determined by measuring mRNA concentrations by real-time polymerase chain reaction (Q-RT-PCR). Production of the hormones progesterone (P), estradiol (E2), and testosterone (T) was quantified using enzyme linked immunosorbent assays (ELISA). RESULTS: Extracts from samples collected in two fish culture areas inhibited growth and proliferation of H295R cells at concentrations greater or equal to 10(5) L equivalents. The cells were exposed to the equivalent concentration of active substances in 10,000 L of water. Thus, to observe the same level of effect as observed in vitro on aquatic organisms would require a bioaccumulation factor of this same magnitude. None of the other 22 marine samples affected growth of the cells at any dilution tested. Twelve of the marine water samples completely inhibited the expression of CYP19 without affecting E2 production; inhibition of CYP17 expression was observed only in one of the samples while expression of CYP11beta2 was induced as much as five- and ninefold after exposure of cells to extracts from two locations. The expression of the progesterone gene 3betaHSD2 was not affected by any of the samples; only one sample induced approximately fourfold the production of E2. Although more than twofold inductions were observed for P and T production, none of these values were statistically significant to conclude effects on the production of these two hormones. While influents from WWTPs did not affect gene expression, an approximately 30% inhibition in the production of E2 and a 40% increase in P occurred for the exposure with influents from the Sha Tin and Stonecutters WWTPs, respectively. Effluents from WWTPs did not affect the production of any of the studied hormones, but a decrement in the expression of the aldosterone gene CYP11beta2 was observed for the Sha Tin WWTP exposure. No direct correlation could be established between gene expression and hormone production. DISCUSSION: Observed cytotoxicity in the two samples from fish culture areas suggest the presence of toxic compounds; chemical analysis is required for their full identification. Although effluents from WWTPs did not affect hormone production, other types of endocrine activity such as receptor-mediated effects cannot be ruled out. Interactions due to the complexity of the samples and alternative steroidogenic pathways might explain the lack of correlation between gene expression and hormone production results. CONCLUSIONS: Changes observed in gene expression and hormone production suggest the presence in Hong Kong coastal waters of pollutants with endocrine disruption potential and others of significant toxic effects. The aromatase and aldosterone genes seem to be the most affected by the exposures, while E2 and P are the hormones with more significant changes observed. Results also suggest effectiveness in the removing of compounds with endocrine activity by the WWTPs studied, as effluent samples did not significantly affect hormone production. The H295R cell showed to be a valuable toll in the battery required for the analysis of endocrine disrupting activities of complex environmental samples. RECOMMENDATIONS AND PERSPECTIVES: Due to the intrinsic complexity of environmental samples, a combination of analytical tools is required to realistically assess environmental conditions, especially in aquatic systems. In the evaluation of endocrine disrupting activities, the H295R cell bioassay should be used in combination with other genomic, biological, chemical, and hydrological tests to establish viable modes for endocrine disruption and identify compounds responsible for the observed effects.     

The impact of the 2004 tsunami on coastal Thai communities: assessing adaptive capacity

The suddenness and scale of the 26 December 2004 tsunami and the challenges posed to affected communities highlighted the benefits of their members having a capacity to confront and adapt to the consequences of such a disaster. Research into adaptive capacity or resilience has been conducted almost exclusively with Western populations. This paper describes an exploratory study of the potential of a measure of collective efficacy developed for Western populations to predict the capacity of members of a collective society, Thai citizens affected by the 2004 tsunami, to confront effectively the recovery demands associated with this disaster. Following a demonstration that this measure could predict adaptive capacity, the role of religious affiliation, ethnicity and place of residence in sustaining collective efficacy is discussed. The implications of the findings for future research on, and intervention to develop, adaptive capacity among Thai citizens in particular and collectivist societies in general are discussed.