MARC details
| 000 -LEADER |
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| fixed length control field |
03170nam a22004217a 4500 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION |
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| fixed length control field |
130224s20132013 xxu||||| |||| 00| 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER |
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| International Standard Serial Number |
1351-8216 |
| 040 ## - CATALOGING SOURCE |
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| Original cataloging agency |
Ovid MEDLINE(R) |
| 099 ## - LOCAL FREE-TEXT CALL NUMBER (OCLC) |
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| PMID |
23557496 |
| 245 ## - TITLE STATEMENT |
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| Title |
Successful percutaneous coronary intervention in a patient with combined deficiency of FV and FVIII due to novel compound heterozygous mutations in LMAN1. |
| 251 ## - Source |
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| Source |
Haemophilia. 19(4):607-10, 2013 Jul. |
| 252 ## - Abbreviated Source |
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| Abbreviated source |
Haemophilia. 19(4):607-10, 2013 Jul. |
| 253 ## - Journal Name |
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| Journal name |
Haemophilia : the official journal of the World Federation of Hemophilia |
| 266 ## - Date added to catalog |
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| Date added to catalog |
2014-02-24 |
| 520 ## - SUMMARY, ETC. |
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| Abstract |
Percutaneous coronary intervention (PCI) in patients with congenital coagulation factor deficiencies presents a unique challenge. They are not only at increased risk of perioperative bleeding but can also suffer thrombosis of the stent as preventive anticoagulation and antiplatelet therapy is difficult. Several cases of successful PCI have been described in patients with haemophilia A and B, but there are no reports in patients with combined coagulation factor deficiencies. We used PCI to treat the coronary artery disease in a patient with the combined deficiency of factor V and factor VIII (F5F8D) and analysed the molecular basis of the disorder for this patient. A 68-year-old patient was admitted for urgent PCI with bare metal stent placement after the diagnosis of the F5F8D. Peripheral blood DNA was extracted for the sequence analysis of LMAN1 and MCFD2 genes. Mutations in LMAN1 was confirmed by molecular cloning of the PCR product and resequencing of the resulting clones. The patient underwent successful PCI with good long-term outcome. Our patient tolerated anticoagulation therapy well, with unfractionated heparin, and double antiplatelet therapy while he was initially supported with fresh frozen plasma and recombinant FVIII. Molecular analysis revealed that the patient carries unusual compound heterozygous frameshift mutations on the same microsatellite repeat region in exon 8 of LMAN1, one of which is a novel mutation (c.912delA). Our results suggest that patients with F5F8D can safely undergo PCI for coronary artery disease, with the treatment individualized to the specific patient. 2013 John Wiley & Sons Ltd. |
| 546 ## - LANGUAGE NOTE |
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| Language note |
English |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Factor V Deficiency/co [Complications] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Hemophilia A/co [Complications] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Mannose-Binding Lectins/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Membrane Proteins/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Mutation/ge [Genetics] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
*Percutaneous Coronary Intervention |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Aged |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Coronary Angiography |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Factor V/me [Metabolism] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Factor VIII/me [Metabolism] |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Heterozygote |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Humans |
| 650 ## - SUBJECT ADDED ENTRY--TOPICAL TERM |
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| Topical term or geographic name entry element |
Male |
| 651 ## - SUBJECT ADDED ENTRY--GEOGRAPHIC NAME |
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| Institution |
Washington Cancer Institute |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Case Reports |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Journal Article |
| 657 ## - INDEX TERM--FUNCTION |
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| Medline publication type |
Research Support, N.I.H., Extramural |
| 700 ## - ADDED ENTRY--PERSONAL NAME |
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| Local Authors |
Malkovska, Vera |
| 790 ## - Authors |
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| All authors |
Lager RA, Liu HH, Malkovska V, Patel AJ, Zhang B |
| 856 ## - ELECTRONIC LOCATION AND ACCESS |
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| DOI |
<a href="http://dx.doi.org/10.1111/hae.12128">http://dx.doi.org/10.1111/hae.12128</a> |
| Public note |
http://dx.doi.org/10.1111/hae.12128 |
| 942 ## - ADDED ENTRY ELEMENTS (KOHA) |
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| Koha item type |
Journal Article |
| Item type description |
Journal article |
