The Experts below are selected from a list of 36933 Experts worldwide ranked by ideXlab platform
Angus John Clarke - One of the best experts on this subject based on the ideXlab platform.
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Newborn screening for Duchenne Muscular Dystrophy
Archives of disease in childhood, 2003Co-Authors: Evelyn Patricia Parsons, D M Bradley, Angus John ClarkeAbstract:Elliman, Dezateux, and Bedford,1 in their recent leading article on newborn and childhood screening, include reference to newborn screening for Duchenne Muscular Dystrophy (DMD). They argue that the main value of such a screening programme …
Melissa Wake - One of the best experts on this subject based on the ideXlab platform.
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Duchenne Muscular Dystrophy: issues in expanding newborn screening.
Current opinion in pediatrics, 2007Co-Authors: Alex R. Kemper, Melissa WakeAbstract:Purpose of review To illustrate potential risks and benefits of disease screening for newborns using the example of Duchenne Muscular Dystrophy. Recent findings There is a wide range in the reported positive predictive value for screening male newborns for Duchenne Muscular Dystrophy by the creatine kinase level on dried blood spots. Some parental anxiety is associated with both early detection and false-positive screening results. No data are available about the impact of the diagnosis on the child, including the impact of early initiation of therapy. Studies suggest that few parents change their future reproductive planning based on identification of Duchenne Muscular Dystrophy through screening. Few data are available regarding the cost of newborn screening for Duchenne Muscular Dystrophy, and there are insufficient data to evaluate the cost-effectiveness of Duchenne Muscular Dystrophy screening. Summary Available data are insufficient to recommend routine newborn screening for Duchenne Muscular Dystrophy. Understanding the gaps in knowledge provides insight into the evidence needed to recommend newborn screening for Duchenne Muscular Dystrophy. Studies are needed to evaluate the potential risks and benefits of screening, including the associated incremental costs.
Evelyn Patricia Parsons - One of the best experts on this subject based on the ideXlab platform.
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Newborn screening for Duchenne Muscular Dystrophy
Archives of disease in childhood, 2003Co-Authors: Evelyn Patricia Parsons, D M Bradley, Angus John ClarkeAbstract:Elliman, Dezateux, and Bedford,1 in their recent leading article on newborn and childhood screening, include reference to newborn screening for Duchenne Muscular Dystrophy (DMD). They argue that the main value of such a screening programme …
Alex R. Kemper - One of the best experts on this subject based on the ideXlab platform.
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Duchenne Muscular Dystrophy: issues in expanding newborn screening.
Current opinion in pediatrics, 2007Co-Authors: Alex R. Kemper, Melissa WakeAbstract:Purpose of review To illustrate potential risks and benefits of disease screening for newborns using the example of Duchenne Muscular Dystrophy. Recent findings There is a wide range in the reported positive predictive value for screening male newborns for Duchenne Muscular Dystrophy by the creatine kinase level on dried blood spots. Some parental anxiety is associated with both early detection and false-positive screening results. No data are available about the impact of the diagnosis on the child, including the impact of early initiation of therapy. Studies suggest that few parents change their future reproductive planning based on identification of Duchenne Muscular Dystrophy through screening. Few data are available regarding the cost of newborn screening for Duchenne Muscular Dystrophy, and there are insufficient data to evaluate the cost-effectiveness of Duchenne Muscular Dystrophy screening. Summary Available data are insufficient to recommend routine newborn screening for Duchenne Muscular Dystrophy. Understanding the gaps in knowledge provides insight into the evidence needed to recommend newborn screening for Duchenne Muscular Dystrophy. Studies are needed to evaluate the potential risks and benefits of screening, including the associated incremental costs.
Gert-jan B. Van Ommen - One of the best experts on this subject based on the ideXlab platform.
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TGF-β signaling in Duchenne Muscular Dystrophy
Future Neurology, 2012Co-Authors: Dwi U. Kemaladewi, Peter A. C. 't Hoen, Peter Ten Dijke, Gert-jan B. Van Ommen, Willem M.h. HoogaarsAbstract:The TGF-β protein family consists of secreted multifunctional cytokines that control diverse processes, such as cell growth and differentiation. Aberrant expression and downstream signaling of these growth factors have been associated with multiple diseases, including muscle wasting disorders, such as Duchenne Muscular Dystrophy. In this review we discuss recent advances in understanding the role of TGF-β family members during normal skeletal muscle biology/regeneration and their role in muscle pathology, with a special focus on Duchenne Muscular Dystrophy. In addition, we will highlight progress in the development of potential therapeutics for Duchenne Muscular Dystrophy based on intervention of TGF-β signaling.
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Advances in Duchenne Muscular Dystrophy gene therapy.
Nature reviews. Genetics, 2003Co-Authors: Judith C. T. Van Deutekom, Gert-jan B. Van OmmenAbstract:Since the initial characterization of the genetic defect for Duchenne Muscular Dystrophy, much effort has been expended in attempts to develop a therapy for this devastating childhood disease. Gene therapy was the obvious answer but, initially, the dystrophin gene and its product seemed too large and complex for this approach. However, our increasing knowledge of the organization of the gene and the role of dystrophin in muscle function has indicated ways to manipulate them both. Gene therapy for Duchenne Muscular Dystrophy now seems to be in reach.
