The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.
Identifieur interne : 005860 ( Ncbi/Merge ); précédent : 005859; suivant : 005861The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.
Auteurs : F C Connell [Royaume-Uni] ; K. Gordon ; G. Brice ; V. Keeley ; S. Jeffery ; Peter Mortimer (dermatologue) [Royaume-Uni] ; S. Mansour ; P. OstergaardSource :
- Clinical genetics [ 1399-0004 ] ; 2013.
Descripteurs français
- KwdFr :
- MESH :
- diagnostic : Lymphoedème.
- Algorithmes, Humains, Lymphoedème.
English descriptors
- KwdEn :
- MESH :
- classification : Lymphedema.
- diagnosis : Lymphedema.
- Algorithms, Humans.
Abstract
Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010, we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This article reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.
DOI: 10.1111/cge.12173
PubMed: 23621851
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Gordon</name></author><author><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name></author><author><name sortKey="Keeley, V" sort="Keeley, V" uniqKey="Keeley V" first="V" last="Keeley">V. Keeley</name></author><author><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name></author><author><name sortKey="Mortimer, P S" sort="Mortimer, P S" uniqKey="Mortimer P" first="P S" last="Mortimer">Peter Mortimer (dermatologue)</name><affiliation><country>Royaume-Uni</country><placeName><settlement type="city">Londres</settlement><region type="country">Angleterre</region><region type="région" nuts="1">Grand Londres</region></placeName><orgName type="university">Université de Londres</orgName></affiliation></author><author><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. 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Ostergaard</name></author></analytic><series><title level="j">Clinical genetics</title><idno type="eISSN">1399-0004</idno><imprint><date when="2013" type="published">2013</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Algorithms</term><term>Humans</term><term>Lymphedema (classification)</term><term>Lymphedema (diagnosis)</term></keywords><keywords scheme="KwdFr" xml:lang="fr"><term>Algorithmes</term><term>Humains</term><term>Lymphoedème ()</term><term>Lymphoedème (diagnostic)</term></keywords><keywords scheme="MESH" qualifier="classification" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnosis" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="diagnostic" xml:lang="fr"><term>Lymphoedème</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Algorithms</term><term>Humans</term></keywords><keywords scheme="MESH" xml:lang="fr"><term>Algorithmes</term><term>Humains</term><term>Lymphoedème</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010, we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This article reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">23621851</PMID><DateCreated><Year>2013</Year><Month>09</Month><Day>16</Day></DateCreated><DateCompleted><Year>2014</Year><Month>04</Month><Day>08</Day></DateCompleted><DateRevised><Year>2013</Year><Month>09</Month><Day>16</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1399-0004</ISSN><JournalIssue CitedMedium="Internet"><Volume>84</Volume><Issue>4</Issue><PubDate><Year>2013</Year><Month>Oct</Month></PubDate></JournalIssue><Title>Clinical genetics</Title><ISOAbbreviation>Clin. Genet.</ISOAbbreviation></Journal><ArticleTitle>The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.</ArticleTitle><Pagination><MedlinePgn>303-14</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1111/cge.12173</ELocationID><Abstract><AbstractText>Historically, primary lymphoedema was classified into just three categories depending on the age of onset of swelling; congenital, praecox and tarda. Developments in clinical phenotyping and identification of the genetic cause of some of these conditions have demonstrated that primary lymphoedema is highly heterogenous. In 2010, we introduced a new classification and diagnostic pathway as a clinical and research tool. This algorithm has been used to delineate specific primary lymphoedema phenotypes, facilitating the discovery of new causative genes. This article reviews the latest molecular findings and provides an updated version of the classification and diagnostic pathway based on this new knowledge.</AbstractText><CopyrightInformation>© 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.</CopyrightInformation></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Connell</LastName><ForeName>F C</ForeName><Initials>FC</Initials><AffiliationInfo><Affiliation>Clinical Genetics, Guy's and St Thomas' NHS Foundation Trust, Guy's Hospital, London, SE1 9RT, UK.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Gordon</LastName><ForeName>K</ForeName><Initials>K</Initials></Author><Author ValidYN="Y"><LastName>Brice</LastName><ForeName>G</ForeName><Initials>G</Initials></Author><Author ValidYN="Y"><LastName>Keeley</LastName><ForeName>V</ForeName><Initials>V</Initials></Author><Author ValidYN="Y"><LastName>Jeffery</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Mortimer</LastName><ForeName>P S</ForeName><Initials>PS</Initials></Author><Author ValidYN="Y"><LastName>Mansour</LastName><ForeName>S</ForeName><Initials>S</Initials></Author><Author ValidYN="Y"><LastName>Ostergaard</LastName><ForeName>P</ForeName><Initials>P</Initials></Author></AuthorList><Language>eng</Language><GrantList CompleteYN="Y"><Grant><GrantID>FS/11/40/28739</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant><Grant><GrantID>PG/10/58/28477</GrantID><Agency>British Heart Foundation</Agency><Country>United Kingdom</Country></Grant></GrantList><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType><PublicationType UI="D016454">Review</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2013</Year><Month>06</Month><Day>27</Day></ArticleDate></Article><MedlineJournalInfo><Country>Denmark</Country><MedlineTA>Clin Genet</MedlineTA><NlmUniqueID>0253664</NlmUniqueID><ISSNLinking>0009-9163</ISSNLinking></MedlineJournalInfo><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000465" MajorTopicYN="Y">Algorithms</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000145" MajorTopicYN="Y">classification</QualifierName><QualifierName UI="Q000175" MajorTopicYN="Y">diagnosis</QualifierName></MeshHeading></MeshHeadingList><KeywordList Owner="NOTNLM"><Keyword MajorTopicYN="N">FLT4/VEGFR3</Keyword><Keyword MajorTopicYN="N">FOXC2</Keyword><Keyword MajorTopicYN="N">GATA2</Keyword><Keyword MajorTopicYN="N">GJC2</Keyword><Keyword MajorTopicYN="N">KIF11</Keyword><Keyword MajorTopicYN="N">VEGFC</Keyword><Keyword MajorTopicYN="N">generalized lymphatic dysplasia</Keyword><Keyword MajorTopicYN="N">lymphoedema</Keyword><Keyword MajorTopicYN="N">phenotyping</Keyword></KeywordList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2013</Year><Month>02</Month><Day>17</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2013</Year><Month>04</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2013</Year><Month>04</Month><Day>19</Day></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2013</Year><Month>4</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2013</Year><Month>4</Month><Day>30</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2014</Year><Month>4</Month><Day>9</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">23621851</ArticleId><ArticleId IdType="doi">10.1111/cge.12173</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Royaume-Uni</li></country><region><li>Angleterre</li><li>Grand Londres</li></region><settlement><li>Londres</li></settlement><orgName><li>Université de Londres</li></orgName></list><tree><noCountry><name sortKey="Brice, G" sort="Brice, G" uniqKey="Brice G" first="G" last="Brice">G. Brice</name><name sortKey="Gordon, K" sort="Gordon, K" uniqKey="Gordon K" first="K" last="Gordon">K. Gordon</name><name sortKey="Jeffery, S" sort="Jeffery, S" uniqKey="Jeffery S" first="S" last="Jeffery">S. Jeffery</name><name sortKey="Keeley, V" sort="Keeley, V" uniqKey="Keeley V" first="V" last="Keeley">V. Keeley</name><name sortKey="Mansour, S" sort="Mansour, S" uniqKey="Mansour S" first="S" last="Mansour">S. Mansour</name><name sortKey="Ostergaard, P" sort="Ostergaard, P" uniqKey="Ostergaard P" first="P" last="Ostergaard">P. Ostergaard</name></noCountry><country name="Royaume-Uni"><noRegion><name sortKey="Connell, F C" sort="Connell, F C" uniqKey="Connell F" first="F C" last="Connell">F C Connell</name></noRegion><name sortKey="Mortimer, P S" sort="Mortimer, P S" uniqKey="Mortimer P" first="P S" last="Mortimer">Peter Mortimer (dermatologue)</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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