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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis.</title><author><name sortKey="Giardiello, F M" sort="Giardiello, F M" uniqKey="Giardiello F" first="F M" last="Giardiello">F M Giardiello</name></author><author><name sortKey="Offerhaus, G J" sort="Offerhaus, G J" uniqKey="Offerhaus G" first="G J" last="Offerhaus">G J Offerhaus</name></author><author><name sortKey="Traboulsi, E I" sort="Traboulsi, E I" uniqKey="Traboulsi E" first="E I" last="Traboulsi">E I Traboulsi</name></author><author><name sortKey="Graybeal, J C" sort="Graybeal, J C" uniqKey="Graybeal J" first="J C" last="Graybeal">J C Graybeal</name></author><author><name sortKey="Maumenee, I H" sort="Maumenee, I H" uniqKey="Maumenee I" first="I H" last="Maumenee">I H Maumenee</name></author><author><name sortKey="Krush, A J" sort="Krush, A J" uniqKey="Krush A" first="A J" last="Krush">A J Krush</name></author><author><name sortKey="Levin, L S" sort="Levin, L S" uniqKey="Levin L" first="L S" last="Levin">L S Levin</name></author><author><name sortKey="Booker, S V" sort="Booker, S V" uniqKey="Booker S" first="S V" last="Booker">S V Booker</name></author><author><name sortKey="Hamilton, S R" sort="Hamilton, S R" uniqKey="Hamilton S" first="S R" last="Hamilton">S R Hamilton</name></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">1659551</idno><idno type="pmc">1379380</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1379380</idno><idno type="RBID">PMC:1379380</idno><date when="1991">1991</date><idno type="wicri:Area/Pmc/Corpus">001513</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">001513</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis.</title><author><name sortKey="Giardiello, F M" sort="Giardiello, F M" uniqKey="Giardiello F" first="F M" last="Giardiello">F M Giardiello</name></author><author><name sortKey="Offerhaus, G J" sort="Offerhaus, G J" uniqKey="Offerhaus G" first="G J" last="Offerhaus">G J Offerhaus</name></author><author><name sortKey="Traboulsi, E I" sort="Traboulsi, E I" uniqKey="Traboulsi E" first="E I" last="Traboulsi">E I Traboulsi</name></author><author><name sortKey="Graybeal, J C" sort="Graybeal, J C" uniqKey="Graybeal J" first="J C" last="Graybeal">J C Graybeal</name></author><author><name sortKey="Maumenee, I H" sort="Maumenee, I H" uniqKey="Maumenee I" first="I H" last="Maumenee">I H Maumenee</name></author><author><name sortKey="Krush, A J" sort="Krush, A J" uniqKey="Krush A" first="A J" last="Krush">A J Krush</name></author><author><name sortKey="Levin, L S" sort="Levin, L S" uniqKey="Levin L" first="L S" last="Levin">L S Levin</name></author><author><name sortKey="Booker, S V" sort="Booker, S V" uniqKey="Booker S" first="S V" last="Booker">S V Booker</name></author><author><name sortKey="Hamilton, S R" sort="Hamilton, S R" uniqKey="Hamilton S" first="S R" last="Hamilton">S R Hamilton</name></author></analytic><series><title level="j">Gut</title><idno type="ISSN">0017-5749</idno><idno type="eISSN">1458-3288</idno><imprint><date when="1991">1991</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Familial adenomatous polyposis is an autosomal dominant disease characterised by the development of hundreds of colorectal adenomas in young adults. Occult radio-opaque jaw lesions and pigmented ocular fundus lesions (formerly called congenital hypertrophy of the retinal pigment epithelium) are extraintestinal phenotypic markers for this disorder. We evaluated the usefulness of the combination of these markers for identifying patients who have inherited familial adenomatous polyposis. Forty three affected patients and 12 unaffected first degree relatives from 24 families with familial adenomatous polyposis, including four families without extraintestinal manifestations, were examined for both phenotypic markers. Thirty three of the 43 patients (77%) with familial adenomatous polyposis were positive for both markers, including patients from two families without extraintestinal manifestations. By contrast, only one of 12 (8%) unaffected first degree relatives over 35 years of age had both markers. The sensitivity of the combination of these markers in identifying patients who inherited familial adenomatous polyposis was 77%, the specificity 92%, the predictive value of a positive test 97%, the predictive value of a negative test 52%, and the efficacy 80%. The combined markers had improved efficacy over either marker alone (70% for occult radio-opaque jaw lesions and 67% for pigmented ocular fundus lesions). We conclude that the presence of both occult radio-opaque jaw lesions and pigmented ocular fundus lesions in a person at risk indicates a high probability of inheritance and expression of familial adenomatous polyposis.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><label>Figure 1</label><graphic xlink:href="gut00591-0105-a" xlink:role="1171"></graphic></fig><fig id="F2"><label>Figure 2</label><graphic xlink:href="gut00591-0107-a" xlink:role="1173"></graphic></fig></sec></div></front></TEI><pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<front><journal-meta><journal-id journal-id-type="nlm-ta">Gut</journal-id><journal-title>Gut</journal-title><issn pub-type="ppub">0017-5749</issn><issn pub-type="epub">1458-3288</issn></journal-meta><article-meta><article-id pub-id-type="pmid">1659551</article-id><article-id pub-id-type="pmc">1379380</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group></article-categories><title-group><article-title>Value of combined phenotypic markers in identifying inheritance of familial adenomatous polyposis.</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Giardiello</surname><given-names>F M</given-names></name></contrib><contrib contrib-type="author"><name><surname>Offerhaus</surname><given-names>G J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Traboulsi</surname><given-names>E I</given-names></name></contrib><contrib contrib-type="author"><name><surname>Graybeal</surname><given-names>J C</given-names></name></contrib><contrib contrib-type="author"><name><surname>Maumenee</surname><given-names>I H</given-names></name></contrib><contrib contrib-type="author"><name><surname>Krush</surname><given-names>A J</given-names></name></contrib><contrib contrib-type="author"><name><surname>Levin</surname><given-names>L S</given-names></name></contrib><contrib contrib-type="author"><name><surname>Booker</surname><given-names>S V</given-names></name></contrib><contrib contrib-type="author"><name><surname>Hamilton</surname><given-names>S R</given-names></name></contrib></contrib-group><aff>Department of Medicine, Johns Hopkins University School of Medicine and Hospital, Baltimore, Maryland 21205.</aff><pub-date pub-type="ppub"><month>10</month><year>1991</year></pub-date><volume>32</volume><issue>10</issue><fpage>1170</fpage><lpage>1174</lpage><abstract><p>Familial adenomatous polyposis is an autosomal dominant disease characterised by the development of hundreds of colorectal adenomas in young adults. Occult radio-opaque jaw lesions and pigmented ocular fundus lesions (formerly called congenital hypertrophy of the retinal pigment epithelium) are extraintestinal phenotypic markers for this disorder. We evaluated the usefulness of the combination of these markers for identifying patients who have inherited familial adenomatous polyposis. Forty three affected patients and 12 unaffected first degree relatives from 24 families with familial adenomatous polyposis, including four families without extraintestinal manifestations, were examined for both phenotypic markers. Thirty three of the 43 patients (77%) with familial adenomatous polyposis were positive for both markers, including patients from two families without extraintestinal manifestations. By contrast, only one of 12 (8%) unaffected first degree relatives over 35 years of age had both markers. The sensitivity of the combination of these markers in identifying patients who inherited familial adenomatous polyposis was 77%, the specificity 92%, the predictive value of a positive test 97%, the predictive value of a negative test 52%, and the efficacy 80%. The combined markers had improved efficacy over either marker alone (70% for occult radio-opaque jaw lesions and 67% for pigmented ocular fundus lesions). We conclude that the presence of both occult radio-opaque jaw lesions and pigmented ocular fundus lesions in a person at risk indicates a high probability of inheritance and expression of familial adenomatous polyposis.</p><sec sec-type="scanned-figures"><title>Images</title><fig id="F1"><label>Figure 1</label><graphic xlink:href="gut00591-0105-a" xlink:role="1171"></graphic></fig><fig id="F2"><label>Figure 2</label><graphic xlink:href="gut00591-0107-a" xlink:role="1173"></graphic></fig></sec></abstract></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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