Predisposition to disease

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  • New technologies have led to revisiting of the individual-collective relation in public health …and to questions of their impact on health inequalities The upholding of ‘choice’ coincides with new forms of stratification No consistency in argument Examples: nutrigenetics, obesity and functional foods

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  • Medical Ethics and New Technologies The rapid pace of technological advances has profound implications for medical applications far beyond their traditional roles to prevent, treat, and cure disease. Cloning, genetic engineering, gene therapy, human-computer interfaces, nanotechnology, and designer drugs have the potential to modify inherited predispositions to disease, select desired characteristics in embryos, augment "normal" human performance, replace failing tissues, and substantially prolong life span.

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  • I wrote the first edition of this book more than 20 years ago, and the discoveries in genetics since then have been phenomenal. The new knowledge and applications of human genetics to health and to society have made it even more necessary that nurses "think genetically" in their practice and, indeed in their lives. Genetic factors can be responsible in some way for both direct and indirect disease causation; for variation that determines predisposition, susceptibility, and resistance to disease and also for response to therapeutic management.

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  • A major pan-European study showed that survival rates in England and Scotland were lower than in other European countries in the 1980s. 6 This was probably due, at least in part, to the fact that British patients tended to have more advanced disease at the time of diagnosis. It is not yet known whether the discrepancy in outcomes has been reduced in the period since this study was carried out. Risk factors The causes of breast cancer are complex. It has been suggested that up to 10% of patients may have an inherited predisposition to the disease.

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  • The second requirement is a clear and well defined starting point. For popu- lation-based cancer registries, the starting date (from which the survival is calculated) is the incidence date (see Section 17.3.1). The third requirement is a clear and well defined outcome. Death is gener- ally the outcome of interest, but some registries collect enough data to allow them to conduct analyses using recurrence of tumour, or first recurrence of a particular complication, as the outcome of interest.

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  • Despite advances in pharmacology, not all patients respond favourably to drugs. A proportion of patients under therapy don't benefit from their treatment or experience an adverse reaction to the medication. However, progress in the understanding of disease mechanisms and drug actions are opening opportunities to match therapies to patient populations, and thus pave the way towards a more personalised medicine.

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  • Many disorders exhibit the feature of locus heterogeneity, which refers to the fact that mutations in different genes can cause phenotypically similar disorders. For example, osteogenesis imperfecta (Chap. 357), long QT syndrome (Chap. 226), muscular dystrophy (Chap. 382), homocystinuria (Chap. 358), retinitis pigmentosa (Chap. 29), and hereditary predisposition to colon cancer (Chap. 87) or breast cancer (Chap. 86) can each be caused by mutations in distinct genes.

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  • Being able to look at clients and families with a “genetic eye” has become critical for all nurses. Advances from genetic and genomic research have influenced all areas of health care and cross all periods of the life cycle. Genetic factors are responsible in some way for both indirect and direct disease causation; for variation that determines predisposition, susceptibility, and resistance to disease; and for response to treatment.

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  • Pathogenesis The multicentric nature of the disease and high rate of recurrence has led to the hypothesis of a field defect in the urothelium that results in a predisposition to cancer. Molecular genetic analyses suggest that the superficial and invasive lesions develop along distinct molecular pathways in which primary tumorigenic aberrations precede secondary changes associated with progression to a more advanced stage.

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  • Asthma is now the most common chronic childhood disease, occurring in approximately 54 of every 1000 children (21). From 1980 through 1996, childhood asthma increased dramatically, by approximately 5% per year (14, 16, 26). The etiology of asthma is complex and multifactorial; risk factors include genetic predisposition as well as exposure to environmental and infectious triggers.

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  • Steven K Lundy, Sujata Sarkar, Laura A Tesmer and David A Fox Department of Internal Medicine, Division of Rheumatology and Rheumatic Diseases Core Center, University of Michigan Medical School, 4043 Biomedical Sciences Research Bldg., 109 Zina Pitcher Pl., Ann Arbor, MI 48109-2200, USA Corresponding author: David A Fox, dfox@umich.edu Published: 13 February 2007 This article is online at http://arthritis-research.com/content/9/1/202 © 2007 BioMed Central Ltd Arthritis Research & Therapy 2007, 9:202 (doi:10.

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  • Children also need to know that Parkinson’s is not contagious. They can’t catch it like they can get a cold or the chicken pox. Older children also may be worried that, since they’re related to you, they will contract the disease themselves eventually. But with today’s research leading in the direction of predisposition combined with environmental factors, you can com- fortably reassure them that is not likely to happen. As unlikely as it sounds to an adult, young children may need to be told that it’s not their fault a parent has Parkinson’s.

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