The New England journal of medicine
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The fibrillin gene encodes a protein in the extracellular matrix, and this protein is widely distributed in elastic tissues. The fibrillin gene is the site of mutations causing Marfan's syndrome. This disorder shows a high degree of clinical variability both between and within families. Each family appears to have a unique mutation in the fibrillin gene, which precludes the routine use of mutation screening for presymptomatic diagnosis of the disorder. The goal of this study was to develop a widely applicable method of molecular diagnosis. ⋯ These results document the usefulness of novel polymorphic DNA repeat sequences in the presymptomatic diagnosis of Marfan's syndrome. Our findings also demonstrate that the various clinical phenotypes seen in selected families may be due not to single fibrillin mutations, but rather to different genetic alterations. These findings underscore the need for a modification of the current diagnostic criteria for Marfan's syndrome in order to achieve accurate risk assessment.
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Despite considerable public interest in legalizing physician-assisted suicide and euthanasia, little is known about physicians' attitudes toward these practices. ⋯ The attitudes toward physician-assisted suicide and euthanasia of physicians in Washington State are polarized. A slight majority favors legalizing physician-assisted suicide and euthanasia in at least some situations, but most would be unwilling to participate in these practices themselves.