Publications

Abstract INTRODUCTION Ankle joint distraction (AJD) is a promising treatment for patients with severe haemophilic ankle arthropathy (HAA). However, some patients showed no clinical improvement after AJD and these differences may be related to structural differences. AIM Primarily to quantify the structural changes after AJD in patients with HAA by the use of 3D joint […]

Abstract INTRODUCTION Variants in collagen-related genes COL1A1, COL3A1, COL5A1 and COL5A2 are associated with Ehlers-Danlos syndrome (EDS), a heterogeneous group of connective tissue disorders strongly associated with increased bleeding. Of patients with incompletely explained bleeding diathesis, a relatively high proportion were shown to harbour at least one heterozygous variant of unknown significance (VUS) in one […]

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Abstract INTRODUCTION Progressive arthropathy caused by recurrent joint bleeds is a severe complication in haemophilia. AIM We investigated whether biomarkers of cartilage and bone degradation, and inflammation were altered in haemophilia patients and whether these biomarkers could identify haemophilia patients with arthropathy. METHODS Serum from 35 haemophilia patients with varying degrees of arthropathy and 43 […]