Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome.
Identifieur interne : 002710 ( PubMed/Checkpoint ); précédent : 002709; suivant : 002711Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome.
Auteurs : Rocío Sánchez-Carpintero [Espagne] ; Pablo Dominguez ; María Teresa Nú Ez ; Ana Pati O-GarcíaSource :
- Genetics in medicine : official journal of the American College of Medical Genetics [ 1530-0366 ] ; 2010.
Descripteurs français
- KwdFr :
- Amorces ADN (génétique), Analyse de séquence d'ADN, Canal vertébral (anatomopathologie), Données de séquences moléculaires, Espace épidural (anatomopathologie), Espagne, Facteurs de transcription Forkhead (génétique), Femelle, Humains, Imagerie par résonance magnétique, Kystes arachnoïdiens (anatomopathologie), Kystes arachnoïdiens (étiologie), Lymphoedème (), Lymphoedème (génétique), Maladies de la paupière (), Maladies de la paupière (génétique), Mutation faux-sens (génétique), Mâle, Pedigree, Syndrome, Séquence nucléotidique.
- MESH :
- anatomopathologie : Canal vertébral, Espace épidural, Kystes arachnoïdiens.
- génétique : Amorces ADN, Facteurs de transcription Forkhead, Lymphoedème, Maladies de la paupière, Mutation faux-sens.
- étiologie : Kystes arachnoïdiens.
- Analyse de séquence d'ADN, Données de séquences moléculaires, Espagne, Femelle, Humains, Imagerie par résonance magnétique, Lymphoedème, Maladies de la paupière, Mâle, Pedigree, Syndrome, Séquence nucléotidique.
- Wicri :
- geographic : Espagne.
English descriptors
- KwdEn :
- Arachnoid Cysts (etiology), Arachnoid Cysts (pathology), Base Sequence, DNA Primers (genetics), Epidural Space (pathology), Eyelid Diseases (complications), Eyelid Diseases (genetics), Female, Forkhead Transcription Factors (genetics), Humans, Lymphedema (complications), Lymphedema (genetics), Magnetic Resonance Imaging, Male, Molecular Sequence Data, Mutation, Missense (genetics), Pedigree, Sequence Analysis, DNA, Spain, Spinal Canal (pathology), Syndrome.
- MESH :
- chemical , genetics : DNA Primers, Forkhead Transcription Factors.
- geographic : Spain.
- complications : Eyelid Diseases, Lymphedema.
- etiology : Arachnoid Cysts.
- genetics : Eyelid Diseases, Lymphedema, Mutation, Missense.
- pathology : Arachnoid Cysts, Epidural Space, Spinal Canal.
- Base Sequence, Female, Humans, Magnetic Resonance Imaging, Male, Molecular Sequence Data, Pedigree, Sequence Analysis, DNA, Syndrome.
Abstract
Lymphedema-distichiasis syndrome is characterized by the presence of lower limb lymphedema and supernumerary eyelashes arising from the Meibomian glands. Spinal extradural arachnoid cysts have been observed in some families but their true frequency is unknown. The aim of this study is to determine the frequency of spinal extradural arachnoid cysts in lymphedema distichiasis syndrome.
DOI: 10.1097/GIM.0b013e3181e5c7ea
PubMed: 20535019
Affiliations:
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xml:lang="fr"><term>Espagne</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Lymphedema-distichiasis syndrome is characterized by the presence of lower limb lymphedema and supernumerary eyelashes arising from the Meibomian glands. Spinal extradural arachnoid cysts have been observed in some families but their true frequency is unknown. The aim of this study is to determine the frequency of spinal extradural arachnoid cysts in lymphedema distichiasis syndrome.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">20535019</PMID><DateCreated><Year>2010</Year><Month>08</Month><Day>12</Day></DateCreated><DateCompleted><Year>2010</Year><Month>11</Month><Day>30</Day></DateCompleted><DateRevised><Year>2010</Year><Month>08</Month><Day>12</Day></DateRevised><Article PubModel="Print"><Journal><ISSN IssnType="Electronic">1530-0366</ISSN><JournalIssue CitedMedium="Internet"><Volume>12</Volume><Issue>8</Issue><PubDate><Year>2010</Year><Month>Aug</Month></PubDate></JournalIssue><Title>Genetics in medicine : official journal of the American College of Medical Genetics</Title><ISOAbbreviation>Genet. Med.</ISOAbbreviation></Journal><ArticleTitle>Spinal extradural arachnoid cysts in lymphedema-distichiasis syndrome.</ArticleTitle><Pagination><MedlinePgn>532-5</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1097/GIM.0b013e3181e5c7ea</ELocationID><Abstract><AbstractText Label="PURPOSE" NlmCategory="OBJECTIVE">Lymphedema-distichiasis syndrome is characterized by the presence of lower limb lymphedema and supernumerary eyelashes arising from the Meibomian glands. Spinal extradural arachnoid cysts have been observed in some families but their true frequency is unknown. The aim of this study is to determine the frequency of spinal extradural arachnoid cysts in lymphedema distichiasis syndrome.</AbstractText><AbstractText Label="METHODS" NlmCategory="METHODS">We collected clinical information from all 45 living members of a complete family of 48 members and performed molecular analysis of the FOXC2 gene in 30 individuals. We obtained spinal magnetic resonance imaging from all family members with a FOXC2 gene mutation.</AbstractText><AbstractText Label="RESULTS" NlmCategory="RESULTS">Twelve family members carried a mutation in the FOXC2 gene and had clinical features of lymphedema-distichiasis syndrome. Of these, 58% (seven individuals) had extradural arachnoid cysts.</AbstractText><AbstractText Label="DISCUSSION" NlmCategory="CONCLUSIONS">We suggest that a follow-up protocol for lymphedema-distichiasis syndrome families should include spinal magnetic resonance imaging for all affected members so that the timing of surgery for removal of these cysts can be optimized.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Sánchez-Carpintero</LastName><ForeName>Rocío</ForeName><Initials>R</Initials><AffiliationInfo><Affiliation>Department of Pediatrics, Pediatric Neurology Unit, University Clinic of Navarra, Pamplona, Spain. rsanchezc@unav.es</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Dominguez</LastName><ForeName>Pablo</ForeName><Initials>P</Initials></Author><Author ValidYN="Y"><LastName>Núñez</LastName><ForeName>María Teresa</ForeName><Initials>MT</Initials></Author><Author ValidYN="Y"><LastName>Patiño-García</LastName><ForeName>Ana</ForeName><Initials>A</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList></Article><MedlineJournalInfo><Country>United States</Country><MedlineTA>Genet Med</MedlineTA><NlmUniqueID>9815831</NlmUniqueID><ISSNLinking>1098-3600</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D017931">DNA Primers</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName 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MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000150" MajorTopicYN="Y">complications</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008279" MajorTopicYN="N">Magnetic Resonance Imaging</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008969" MajorTopicYN="N">Molecular Sequence Data</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020125" MajorTopicYN="N">Mutation, Missense</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D010375" MajorTopicYN="N">Pedigree</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D017422" MajorTopicYN="N">Sequence Analysis, DNA</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013030" MajorTopicYN="N" Type="Geographic">Spain</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D013115" MajorTopicYN="N">Spinal Canal</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="Y">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013577" MajorTopicYN="N">Syndrome</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2010</Year><Month>6</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2010</Year><Month>6</Month><Day>11</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2010</Year><Month>12</Month><Day>14</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">20535019</ArticleId><ArticleId IdType="doi">10.1097/GIM.0b013e3181e5c7ea</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Espagne</li></country></list><tree><noCountry><name sortKey="Dominguez, Pablo" sort="Dominguez, Pablo" uniqKey="Dominguez P" first="Pablo" last="Dominguez">Pablo Dominguez</name><name sortKey="Nu Ez, Maria Teresa" sort="Nu Ez, Maria Teresa" uniqKey="Nu Ez M" first="María Teresa" last="Nú Ez">María Teresa Nú Ez</name><name sortKey="Pati O Garcia, Ana" sort="Pati O Garcia, Ana" uniqKey="Pati O Garcia A" first="Ana" last="Pati O-García">Ana Pati O-García</name></noCountry><country name="Espagne"><noRegion><name sortKey="Sanchez Carpintero, Rocio" sort="Sanchez Carpintero, Rocio" uniqKey="Sanchez Carpintero R" first="Rocío" last="Sánchez-Carpintero">Rocío Sánchez-Carpintero</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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