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Von Willebrand factor is involved in primary hemostasis (adhesion of platelets to subendothelium and platelet aggregation) and acts as the carrier of coagulation factor VIII. Von Willebrand disease, resulting from a quantitative or qualitative defect of this factor, is the most frequent inherited bleeding disorder. It is mainly responsible for symptoms such as mucocutaneous bleeding and excessive bleeding after trauma or invasive procedures, but can also cause gastro-intestinal bleeding or hemarthrosis in the most severe forms of the disease. There are numerous causes of physiological variation of von Willebrand factor plasma levels which can be responsible for diagnostic difficulty or changes in symptoms over time. Diagnosis relies primarily on clinical symptoms but requires the use of several laboratory analyses: von Willebrand factor activity and antigen testing and factor VIII activity. More specialized assays allow classification of the disease in various types and subtypes which imply different management strategies (types 1, 2A, 2B, 2M, 2N, and 3). Treatment is based on desmopressin, responsible for an increase in plasma concentration of von Willebrand factor, and plasma-derived von Willebrand factor concentrates which can be combined with factor VIII.
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http://dx.doi.org/10.1016/j.revmed.2018.08.005 | DOI Listing |
Virchows Arch
December 2021
Department of Plastic Surgery, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
Merkel cell carcinoma (MCC) is a rare and aggressive neuroendocrine malignancy of the skin. The cell of origin of MCC is thus far unknown and proposed cells of origin include Merkel cells, pro-/pre- or pre-B cells, epithelial stem cells, and dermal stem cells. In this study, we aimed to shed further light on the possibility that a subset of MCC tumors arise from epithelial stem cells of the skin by examining the expression of hair follicle and epidermal stem cell markers in MCC and normal human skin.
View Article and Find Full Text PDFAm J Med Genet A
June 2021
The Folkhaelsan Department of Medical Genetics, The Folkhaelsan Institute of Genetics and the Department of Medical and Clinical Genetics, Medicum, University of Helsinki, Helsinki, Finland.
J Transl Med
October 2020
Institute of Neurophysiology, Medical Faculty Mannheim, University Heidelberg, Heidelberg, Germany.
J Eur Acad Dermatol Venereol
February 2019
Department of Dermatology, Allergology and Venereology, Helsinki University Central Hospital, Helsinki, Finland.
Transplantation
January 2016
1 Transplantation Laboratory, University of Helsinki, Helsinki, Finland. 2 Department of surgery, Oulu University Central Hospital, Oulu, Finland. 3 Transplantation and Liver Surgery Unit, Helsinki University Central Hospital, Helsinki, Finland. 4 Division of Nephrology, Department of Medicine, Helsinki University Central Hospital, Helsinki, Finland.
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