17 research outputs found

    Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2

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    Contains fulltext : 110379.pdf (publisher's version ) (Open Access)Myotonic dystrophy is an autosomal dominant, multisystem disorder that is characterized by myotonic myopathy. The symptoms and severity of myotonic dystrophy type l (DM1) ranges from severe and congenital forms, which frequently result in death because of respiratory deficiency, through to late-onset baldness and cataract. In adult patients, cardiac conduction abnormalities may occur and cause a shorter life span. In subsequent generations, the symptoms in DM1 may present at an earlier age and have a more severe course (anticipation). In myotonic dystrophy type 2 (DM2), no anticipation is described, but cardiac conduction abnormalities as in DM1 are observed and patients with DM2 additionally have muscle pain and stiffness. Both DM1 and DM2 are caused by unstable DNA repeats in untranslated regions of different genes: A (CTG)n repeat in the 3'-UTR of the DMPK gene and a (CCTG)n repeat in intron 1 of the CNBP (formerly ZNF9) gene, respectively. The length of the (CTG)n repeat expansion in DM1 correlates with disease severity and age of onset. Nevertheless, these repeat sizes have limited predictive values on individual bases. Because of the disease characteristics in DM1 and DM2, appropriate molecular testing and reporting is very important for the optimal counseling in myotonic dystrophy. Here, we describe best practice guidelines for clinical molecular genetic analysis and reporting in DM1 and DM2, including presymptomatic and prenatal testing

    Bioavailability and Bioaccessibility of Hydrophobic Organic Contaminants in Soil and Associated Desorption-Based Measurements

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    Many publications on contaminant bioavailability in soils often state that the use of total contaminant concentrations in risk assessment is an overly conservative approach. Such conservatism makes traditional risk assessment approaches and contaminated land decision-making expensive. The risk-based approach to contaminated land management strives to identify and manage the potential risks of significant harm being caused to humans and ecological receptors, following exposure to contaminated land. Risk-based approaches are more cost-effective than the traditional approaches from the perspective of contaminated land management. Contaminant bioavailability or bioaccessibility is one of the critical concepts that underpins risk-based approaches to contaminated land management. Bioavailability describes the fraction of the total contaminant concentration that desorbs from soil and is immediately available to cause harm to a living organism, after passing through the organism’s membrane. Bioaccessibility describes what is available and potentially available under natural environmental conditions and during realistic timeframes. The reliable measurements of either contaminant bioavailability or bioaccessibility is therefore critical; in this regard, a thorough understanding of contaminant sequestration and desorption behaviour is required. This chapter discusses the fate of HOCs in soils, bioavailability and bioaccessibility of organic contaminants and their associated desorption-based measurements
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