Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

A pregnant woman with indeterminate Duchenne muscular dystrophy (DMD) carrier status, but with DMD diagnosed in her deceased brother (unavailable for study), presented for prenatal diagnosis, intending to continue the pregnancy only if proven unaffected with DMD with near absolute certainty. Creatine kinase (CK) assays to clarify carrier status were inconclusive. Male sex in the fetus was identified, but DNA restriction fragment length polymorphism (RFLP) analysis was not yet available to this centre to investigate the possible transmission of the DMD gene, and the pregnancy was terminated. Tissue histology and dystrophin protein analysis demonstrated the absence of DMD. In a situation with proven maternal carrier status, future fetal inheritance of the opposite maternal X chromosome would indicate the presence of DMD. However, maternal carrier status remained in doubt through a second pregnancy, even with RFLP studies, and was finally established when dystrophin analysis confirmed the presence of DMD in the second fetus. Histologic findings are presented, contrasting features in the two fetuses. The value of dystrophin analysis for establishing the diagnosis of fetal DMD, in this case proving maternal carrier status in a difficult situation, and for demonstrating DMD gene:RFLP haplotype relationships is illustrated.     

Introduction: General versus specific measures and the special case of core self‐evaluations

This paper introduces a Journal of Organizational Behavior point/counterpoint exchange (this issue) that focuses on the appropriate level of aggregation primarily in the assessment of personality in general and core self‐evaluations (CSE) in particular. Gilad Chen reviews arguments for and against the higher‐order construct of CSE, offering a number of recommendations for strengthening it. Timothy Judge and John Kammeyer‐Mueller offer a defense of CSE, and then extend the discussion to the measurement of other constructs beyond the personality domain. Together these two papers provide important insights about the appropriate level of aggregation of individual measures, and situations in which higher‐order versus lower‐order measures might be preferred. Copyright © 2011 John Wiley & Sons, Ltd.     

UNCALCULATED IMPACTS OF UNSUSTAINABLE AQUIFER YIELD INCLUDING EVIDENCE OF SUBSURFACE INTERBASIN FLOW1

ABSTRACT: Unsustainable withdrawals from regional aquifers have resulted in adverse impacts considerable distances from the point locations of supply wells. In one area of the southeastern (SE) Coastal Plain, conservative estimates for repair/replacement of some residential wells damaged or destroyed by unsustainable yield from the Floridan aquifer system exceeded $4 million. However, a comprehensive assessment of damage/economic loss to private property and public resources due to unsustainable yield from that regional karst aquifer has not been made. Uncalculated direct costs to home‐owners from damage attributed to those withdrawals are associated with destruction of homes from increased sinkhole formation, devalued waterfront property, and removal of diseased and dead trees. Examples of other uncalculated economic burdens resulting from unsustainable aquifer yield in the SE Coastal Plain include: (1) irreversible damage to the aquifer matrix and concomitant increased potential for groundwater contamination, (2) large‐scale wildfires with subsequent degradation of air quality, debilitation of transportation corridors, and destruction of timber, wildlife habitat and property, and (3) destruction of “protected” natural areas. This paper provides a general background of the regional Floridan aquifer system's karst characteristics, examples of known impacts resulting from ground water mining in the SE Coastal Plain, and examples of additional damage that may be related to unsustainable yield from the Upper Floridan aquifer. Costs of these impacts have not been calculated and are not reflected in the price users pay for ground water. Evidence suggests that the classic watershed management approach must be revised in areas with mined regional karst aquifers to include impacts of induced recharge from the surficial aquifer, and subsurface inter‐basin flow. Likewise, associated impacts to surface water and interrelated systems must be calculated. The true cost of groundwater mining to this and future generations should be determined using a multidisciplinary approach.