PubMed · 9411142
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O Edhag. 1997-10-22. [How to avoid diagnostic errors?].. https://pubmed.ncbi.nlm.nih.gov/9411142/
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The Inter-Organisation Programme for the Sound Management of Chemicals (IOMC) was established in 1995 as a mechanism to co-ordinate the efforts of Inter-governmental Organisations in promoting the sound management of chemicals. The seven participating organisations are the United Nations Environment Programme (UNEP), the International Labour Organisation (ILO), the United Nations Food and Agriculture Organisation (FAO), the World Health Organisation (WHO), the United Nations Industrial Development Organisation (UNIDO), the United Nations Institute for Training and Research (UNITAR), and the Organisation of Economic Cooperation and Development (OECD). Members consult on the planning, programming, implementation and monitoring of activities undertaken jointly or individually, and help ensure that programmes are mutually supportive, complementary and avoid duplication of efforts, thus meeting the overall needs of the users more efficiently and effectively. To deal with technical work, the IOMC established smaller thematic groups in the main programme areas of Agenda 21's Chapter 19. One such group promotes information exchange work. Within this IOMC framework, the seven organisations have developed approaches and products to help customers find chemical safety information, as well as improving modalities of access to these data. These mechanisms come in addition to and complement the extensive information products and databases developed and provided by the individual organisations. This article presents an overview of the role of each organisation, an introduction to its electronic information products and tools, and a discussion of the products of this joint effort.
Mutations in the low density lipoprotein receptor gene (LDLR) cause familial hypercholesterolaemia (FH). The FH website (http://www.ucl. ac.uk/fh) has been updated to provide various functions enabling the analysis of the large number of LDLR mutations. To date, 683 LDLR mutations have been reported; of these 58.9% are missense mutations, 21.1% minor rearrangements, 13.5% major rearrangements and 6.6% splice site mutations. Of the 402 missense mutations, only 11.4% occurred at CpG sites. The majority of mutations were found in two functional domains, the ligand binding domain (42%) and the epidermal growth factor (EGF) precursor-like domain (47%). This report describes new features of the FH website and assesses the spectrum of mutations reported to date.
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