3 resultados para Norman Malcolm

em Archivo Digital para la Docencia y la Investigación - Repositorio Institucional de la Universidad del País Vasco


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Antonio Duplá Ansuategui, Piedad Frías Nogales e Iban Zaldúa (editores)

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Over the last decad , the paradigm of Total Quality Management (TQM) has been successfully forged in our business world. TQM may be defined as something that is both complex and ambiguous; nevertheless, some key elements or principles can be mentioned which are common to all of them: customer satisfaction, continuous improvement, commitment and leadership on the part of top management, involvement and support on the part of employees, teamwork, measurement via indicators and feedback. There are, in short, two main reasons for it having spread so widely: on the one hand, the successful diffusion of ISO 9000 standards for the implementation and certification of quality management systems, standards that have been associated to the TQM paradigm, and, on the other, the also successful diffusion of self evaluation models such as the EFQM promoted by the European Foundation for Quality Management and the Malcolm Baldrige National Quality Award in the USA, promoted by the Foundation for the Malcolm Baldrige National Quality Award. However, the quality movement is not without its problems as far as its mid and long term development is concerned. In this book some research findings related to these issues are presented.

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Colorectal cancer is one of the most frequent neoplasms and an important cause of mortality in the developed world. Mendelian syndromes account for about 5% of the total burden of CRC, being Lynch syndrome and familial adenomatous polyposis the most common forms. Lynch syndrome tumors develop mainly as a consequence of defective DNA mismatch repair associated with germline mutations in MLH1, MSH2, MSH6 and PMS2. A significant proportion of variants identified by screening these genes correspond to missense or noncoding changes without a clear pathogenic consequence, and they are designated as "variants of uncertain significance'', being the c.1852_1853delinsGC (p.K618A) variant in the MLH1 gene a clear example. The implication of this variant as a low-penetrance risk variant for CRC was assessed in the present study by performing a case-control study within a large cohort from the COGENT consortium-COST Action BM1206 including 18,723 individuals (8,055 colorectal cancer cases and 10,668 controls) and a case-only genotype-phenotype correlation with several clinical and pathological characteristics restricted to the Epicolon cohort. Our results showed no involvement of this variant as a low-penetrance variant for colorectal cancer genetic susceptibility and no association with any clinical and pathological characteristics including family history for this neoplasm or Lynch syndrome.