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dc.contributor.authorKlammt, Juergen
dc.contributor.authorPalumbo, Joseph S.
dc.contributor.authorSteitzer, Hansjoerg
dc.contributor.authorTabbara, Khalid F.
dc.contributor.authorÖZBEK, ZEYNEP
dc.contributor.authorPucci, Neri
dc.contributor.authorSotomayor, Talia
dc.contributor.authorSturm, Marian
dc.contributor.authorDrogies, Tim
dc.contributor.authorZiegler, Maike
dc.contributor.authorSchuster, Volker
dc.contributor.authorKurtulus, Idil
dc.contributor.authorGokbuget, Aslan
dc.contributor.authorKobelt, Louise
dc.contributor.authorAktas, Dilek
dc.contributor.authorDURAK, İSMET
dc.contributor.authorHughes, Quintin
dc.contributor.authorIrkec, Murat
dc.contributor.authorLapi, Elisabetta
dc.contributor.authorMechoulam, Hadas
dc.contributor.authorMendoza-Londono, Roberto
dc.date.accessioned2021-03-03T10:00:58Z
dc.date.available2021-03-03T10:00:58Z
dc.date.issued2011
dc.identifier.citationKlammt J., Kobelt L., Aktas D., DURAK İ., Gokbuget A., Hughes Q., Irkec M., Kurtulus I., Lapi E., Mechoulam H., et al., "Identification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity", THROMBOSIS AND HAEMOSTASIS, cilt.105, sa.3, ss.454-460, 2011
dc.identifier.issn0340-6245
dc.identifier.otherav_2026744b-63b6-492d-b8a7-aebb92ac5af6
dc.identifier.othervv_1032021
dc.identifier.urihttp://hdl.handle.net/20.500.12627/26704
dc.identifier.urihttps://doi.org/10.1160/th10-04-0216
dc.description.abstractInherited severe hypoplasminogenaemia is a multisystemic disorder leading to deficient extravascular fibrinolysis.As a clinical consequence wound healing capacity of mucous membranes is markedly impaired leading to ligneous conjunctivitis and several other manifestations. Here we report the molecular genetic and clinical findings on 23 new cases with severe hypoplasminogenaemia. Homozygous or compound-heterozygous mutations in the plasminogen (PLG) gene were found in 16 of 23 patients (70%), three of which were novel mutations reported here for the first time (C166Y, Y264S, IVS10-7T/G). Compared to 79 previously published cases, clinical manifestations of the current group of patients showed higher percentages of ligneous periodontitis, congenital hydrocephalus, and involvement of the female genital tract. In contrast, involvement of the gastrointestinal or urogenital tract was not observed in any of the cases. Patients originated to a large extent (61%) from Turkey and the Middle East, and showed a comparably frequent occurrence of consanguinity of affected families and a greater female to male ratio than was derived from previous reports in the literature. Individual treatment of ligneous conjunctivitis included topical plasminogen or heparin eye drops, topical or systemic fresh frozen plasma, and surgical removal of ligneous pseudomembranes, mostly with modest or transient efficacy. In conclusion, the present study underscores the broad range of clinical manifestations in PLG-deficient patients with a trend to regional differences. Transmission of genetic and clinical data to the recently established Plasminogen Deficiency Registry should help to determine the prevalence of the disease and to develop more efficient treatment strategies.
dc.language.isoeng
dc.subjectDahili Tıp Bilimleri
dc.subjectHEMATOLOJİ
dc.subjectKlinik Tıp
dc.subjectKlinik Tıp (MED)
dc.subjectPERİFERAL VASKÜLER HASTALIĞI
dc.subjectTıp
dc.subjectSağlık Bilimleri
dc.subjectİç Hastalıkları
dc.subjectHematoloji
dc.titleIdentification of three novel plasminogen (PLG) gene mutations in a series of 23 patients with low PLG activity
dc.typeMakale
dc.relation.journalTHROMBOSIS AND HAEMOSTASIS
dc.contributor.departmentİstanbul Üniversitesi , ,
dc.identifier.volume105
dc.identifier.issue3
dc.identifier.startpage454
dc.identifier.endpage460
dc.contributor.firstauthorID199832


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