Von Willebrand disease historical perspective: Difference between revisions
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==Overview== | ==Overview== | ||
*[[Von Willebrand's disease]] was first described by [[Erik Adolf von Willebrand]], a Finnish [[paediatrics|paediatrician]] in 1926.<ref>{{WhoNamedIt|doctor|2690}}</ref><ref name="pmid23020315">{{cite journal| author=Lenting PJ, Casari C, Christophe OD, Denis CV| title=von Willebrand factor: the old, the new and the unknown. | journal=J Thromb Haemost | year= 2012 | volume= 10 | issue= 12 | pages= 2428-37 | pmid=23020315 | doi=10.1111/jth.12008 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23020315 }} </ref> | |||
*Dr. [[Erik Adolf von Willebrand]] was also the first to differeentiate [[Von Willebrand's disease]] from hemophilia.<ref name="pmid23020315">{{cite journal| author=Lenting PJ, Casari C, Christophe OD, Denis CV| title=von Willebrand factor: the old, the new and the unknown. | journal=J Thromb Haemost | year= 2012 | volume= 10 | issue= 12 | pages= 2428-37 | pmid=23020315 | doi=10.1111/jth.12008 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23020315 }} </ref> | |||
*[[Von Willebrand's disease]] was initially named hereditary pseudohemophilia.<ref name="pmid23020315">{{cite journal| author=Lenting PJ, Casari C, Christophe OD, Denis CV| title=von Willebrand factor: the old, the new and the unknown. | journal=J Thromb Haemost | year= 2012 | volume= 10 | issue= 12 | pages= 2428-37 | pmid=23020315 | doi=10.1111/jth.12008 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23020315 }} </ref> | |||
*In the mid 1950s it was recognized that [[Von Willebrand's disease]] was usually accompanied by the following:<ref name="pmid21289515">{{cite journal| author=James PD, Goodeve AC| title=von Willebrand disease. | journal=Genet Med | year= 2011 | volume= 13 | issue= 5 | pages= 365-76 | pmid=21289515 | doi=10.1097/GIM.0b013e3182035931 | pmc=3832952 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21289515 }} </ref> | |||
**A decreased level of coagulation [[factor VIII]] (FVIII) activity | |||
**Bleeding phenotype could be corrected by the infusion of normal plasma. | |||
*In the early 1970s the immunologic distinction between [[FVIII]] and [[von Willebrand factor]] was made.<ref name="pmid21289515">{{cite journal| author=James PD, Goodeve AC| title=von Willebrand disease. | journal=Genet Med | year= 2011 | volume= 13 | issue= 5 | pages= 365-76 | pmid=21289515 | doi=10.1097/GIM.0b013e3182035931 | pmc=3832952 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21289515 }} </ref> | |||
*In the 1980s, cloning of the VWF gene was investigated which has facilitated investigation into the genetic basis of VWD.<ref name="pmid21289515">{{cite journal| author=James PD, Goodeve AC| title=von Willebrand disease. | journal=Genet Med | year= 2011 | volume= 13 | issue= 5 | pages= 365-76 | pmid=21289515 | doi=10.1097/GIM.0b013e3182035931 | pmc=3832952 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=21289515 }} </ref><ref name="pmid3873280">{{cite journal| author=Lynch DC, Zimmerman TS, Collins CJ, Brown M, Morin MJ, Ling EH et al.| title=Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method. | journal=Cell | year= 1985 | volume= 41 | issue= 1 | pages= 49-56 | pmid=3873280 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3873280 }} </ref><ref name="pmid2864688">{{cite journal| author=Sadler JE, Shelton-Inloes BB, Sorace JM, Harlan JM, Titani K, Davie EW| title=Cloning and characterization of two cDNAs coding for human von Willebrand factor. | journal=Proc Natl Acad Sci U S A | year= 1985 | volume= 82 | issue= 19 | pages= 6394-8 | pmid=2864688 | doi= | pmc=390722 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=2864688 }} </ref><ref name="pmid3874428">{{cite journal| author=Ginsburg D, Handin RI, Bonthron DT, Donlon TA, Bruns GA, Latt SA et al.| title=Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization. | journal=Science | year= 1985 | volume= 228 | issue= 4706 | pages= 1401-6 | pmid=3874428 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3874428 }} </ref><ref name="pmid3019665">{{cite journal| author=Verweij CL, Diergaarde PJ, Hart M, Pannekoek H| title=Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit. | journal=EMBO J | year= 1986 | volume= 5 | issue= 8 | pages= 1839-47 | pmid=3019665 | doi= | pmc=1167049 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3019665 }} </ref> | |||
==Historical Perspective== | ==Historical Perspective== | ||
Revision as of 18:05, 14 December 2016
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
- Von Willebrand's disease was first described by Erik Adolf von Willebrand, a Finnish paediatrician in 1926.[1][2]
- Dr. Erik Adolf von Willebrand was also the first to differeentiate Von Willebrand's disease from hemophilia.[2]
- Von Willebrand's disease was initially named hereditary pseudohemophilia.[2]
- In the mid 1950s it was recognized that Von Willebrand's disease was usually accompanied by the following:[3]
- A decreased level of coagulation factor VIII (FVIII) activity
- Bleeding phenotype could be corrected by the infusion of normal plasma.
- In the early 1970s the immunologic distinction between FVIII and von Willebrand factor was made.[3]
- In the 1980s, cloning of the VWF gene was investigated which has facilitated investigation into the genetic basis of VWD.[3][4][5][6][7]
Historical Perspective
- Von Willebrand's disease was first described by Erik Adolf von Willebrand, a Finnish paediatrician in 1926.[8][2]
- Dr. Erik Adolf von Willebrand was also the first to differeentiate Von Willebrand's disease from hemophilia.[2]
- Von Willebrand's disease was initially named hereditary pseudohemophilia.[2]
- In the mid 1950s it was recognized that Von Willebrand's disease was usually accompanied by the following:[3]
- A decreased level of coagulation factor VIII (FVIII) activity
- Bleeding phenotype could be corrected by the infusion of normal plasma.
- In the early 1970s the immunologic distinction between FVIII and von Willebrand factor was made.[3]
- In the 1980s, cloning of the VWF gene was investigated which has facilitated investigation into the genetic basis of VWD.[3][4][5][6][7]
References
- ↑ Template:WhoNamedIt
- ↑ 2.0 2.1 2.2 2.3 2.4 2.5 Lenting PJ, Casari C, Christophe OD, Denis CV (2012). "von Willebrand factor: the old, the new and the unknown". J Thromb Haemost. 10 (12): 2428–37. doi:10.1111/jth.12008. PMID 23020315.
- ↑ 3.0 3.1 3.2 3.3 3.4 3.5 James PD, Goodeve AC (2011). "von Willebrand disease". Genet Med. 13 (5): 365–76. doi:10.1097/GIM.0b013e3182035931. PMC 3832952. PMID 21289515.
- ↑ 4.0 4.1 Lynch DC, Zimmerman TS, Collins CJ, Brown M, Morin MJ, Ling EH; et al. (1985). "Molecular cloning of cDNA for human von Willebrand factor: authentication by a new method". Cell. 41 (1): 49–56. PMID 3873280.
- ↑ 5.0 5.1 Sadler JE, Shelton-Inloes BB, Sorace JM, Harlan JM, Titani K, Davie EW (1985). "Cloning and characterization of two cDNAs coding for human von Willebrand factor". Proc Natl Acad Sci U S A. 82 (19): 6394–8. PMC 390722. PMID 2864688.
- ↑ 6.0 6.1 Ginsburg D, Handin RI, Bonthron DT, Donlon TA, Bruns GA, Latt SA; et al. (1985). "Human von Willebrand factor (vWF): isolation of complementary DNA (cDNA) clones and chromosomal localization". Science. 228 (4706): 1401–6. PMID 3874428.
- ↑ 7.0 7.1 Verweij CL, Diergaarde PJ, Hart M, Pannekoek H (1986). "Full-length von Willebrand factor (vWF) cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit". EMBO J. 5 (8): 1839–47. PMC 1167049. PMID 3019665.
- ↑ Template:WhoNamedIt