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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.  相似文献   
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The pathology of cardiovascular disease is multi-faceted, with links to many modifiable and non-modifiable risk factors. Epidemiological evidence now implicates exposure to persistent organic pollutants, such as polychlorinated biphenyls (PCBs), with an increased risk of developing diabetes, hypertension, and obesity; all of which are clinically relevant to the onset and progression of cardiovascular disease. PCBs exert their cardiovascular toxicity either directly or indirectly via multiple mechanisms, which are highly dependent on the type and concentration of PCBs present. However, many PCBs may modulate cellular signaling pathways leading to common detrimental outcomes including induction of chronic oxidative stress, inflammation, and endocrine disruption. With the abundance of potential toxic pollutants increasing globally, it is critical to identify sensible means of decreasing associated disease risks. Emerging evidence now implicates a protective role of lifestyle modifications such as increased exercise and/or nutritional modulation via anti-inflammatory foods, which may help to decrease the vascular toxicity of PCBs. This review will outline the current state of knowledge linking coplanar and non-coplanar PCBs to cardiovascular disease and describe the possible molecular mechanism of this association.  相似文献   
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Environmental Science and Pollution Research - Bioreduction of selenium oxyanions to elemental selenium is ubiquitous; elucidating the properties of this biogenic elemental selenium (BioSe) is thus...  相似文献   
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Sensors and enabling technologies are becoming increasingly important tools for water quality monitoring and associated water resource management decisions. In particular, nutrient sensors are of interest because of the well‐known adverse effects of nutrient enrichment on coastal hypoxia, harmful algal blooms, and impacts to human health. Accurate and timely information on nutrient concentrations and loads is integral to strategies designed to minimize risk to humans and manage the underlying drivers of water quality impairment. Using nitrate sensors as the primary example, we highlight the types of applications in freshwater and coastal environments that are likely to benefit from continuous, real‐time nutrient data. The concurrent emergence of new tools to integrate, manage, and share large datasets is critical to the successful use of nutrient sensors and has made it possible for the field of continuous monitoring to rapidly move forward. We highlight several near‐term opportunities for federal agencies, as well as the broader scientific and management community, that will help accelerate sensor development, build and leverage sites within a national network, and develop open data standards and data management protocols that are key to realizing the benefits of a large‐scale, integrated monitoring network. Investing in these opportunities will provide new information to guide management and policies designed to protect and restore our nation's water resources.  相似文献   
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Maintaining a living plant collection is the most common method of ex situ conservation for plant species that cannot be seed banked (i.e., exceptional species). Viability of living collections, and their value for future conservation efforts, can be limited without coordinated efforts to track and manage individuals across institutions. Using a pedigree-focused approach, the zoological community has established an inter-institutional infrastructure to support long-term viability of captive animal populations. We assessed the ability of this coordinated metacollection infrastructure to support the conservation of 4 plant species curated in living collections at multiple botanic gardens around the world. Limitations in current practices include the inability to compile, share, and analyze plant collections data at the individual level, as well as difficulty in tracking original provenance of ex situ material. The coordinated metacollection framework used by zoos can be adopted by the botanical community to improve conservation outcomes by minimizing the loss of genetic diversity in collections. We suggest actions to improve ex situ conservation of exceptional plant species, including developing a central database to aggregate data and track unique individuals of priority threatened species among institutions and adapting a pedigree-based population management tool that incorporates life-history aspects unique to plants. If approached collaboratively across regional, national, and global scales, these actions could transform ex situ conservation of threatened plant species.  相似文献   
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This research seeks for improved understanding regarding the interaction of meaningful work and the work–family interface. Existing literature suggests that experiencing a sense of calling toward work makes the work domain particularly salient to employees compared to other life domains. In this article, we draw on this idea, rooted in identity theory, to hypothesize that a sense of calling toward work diminishes the effects of work–family conflict and work–family enrichment on employee's job and life satisfaction. We test these ideas in two studies. First, we surveyed an alumni sample of 598 employees from various jobs, industries, and job levels. Then, in a constructive replication, we surveyed 327 employees using a time-lagged design. Calling was found to significantly buffer the effect of work–family conflict on job satisfaction in Study 2, but not Study 1. Calling did not buffer the effect of conflict on life satisfaction in either study. However, both studies demonstrated that calling attenuated (substituted for) the effect of work–family enrichment on job satisfaction. Study 1 supported the idea that calling attenuates the effect of enrichment on life satisfaction; however, this interactive effect was reversed in Study 2, contrary to expectations. We discuss implications for theory and practice related to callings and career choices, as well as for the role of calling and work identity in the work–family interface.  相似文献   
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