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.     

Opportunistically collected data from aerial surveys reveal spatio-temporal distribution patterns of marine debris in German waters

Environmental Science and Pollution Research - Marine debris is known for its ubiquitousness and harmful effects on marine life. This study is the first analysis to provide information on the...     

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.