Haemophilia : the official journal of the World Federation of Hemophilia
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Randomized Controlled Trial Clinical Trial
Effectiveness of two modalities of physiotherapy in the treatment of haemophilic arthropathy of the ankle: a randomized pilot study.
Although different techniques of physiotherapy have been described for the treatment of haemophilic arthropathy (HA) of ankle, hardly any studies have been applied manual therapy or educational physiotherapy and home exercises. The aim of this study was to assess the effectiveness of manual therapy and educational physiotherapy in the treatment of HA of the ankle. Thirty-one patients with HA of the ankle with a mean age of 35.29 (SD: 12.877) years randomized to manual therapy group (n = 11), educational group (n = 10) and a control group (n = 10). ⋯ In the educational group there were improvements, but not significant, in the measured variables. No patient had ankle haemarthrosis during the study. The treatment with manual therapy improved the circumference of gastrocnemius and lessened pain in the patients with haemophilic arthropathy of the ankle.
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Case Reports
Factor XIII deficiency: complete phenotypic characterization of two cases with novel causative mutations.
Coagulation factor XIII (FXIII) exists as heterotetramer (FXIII-A₂B₂) in the plasma and as dimer (FXIII-A₂) in cells. Activated FXIII mechanically stabilizes fibrin and protects it from fibrinolysis by cross-linking fibrin chains and α₂-plasmin inhibitor to fibrin. FXIII is essential to maintaining haemostasis, and its deficiency causes severe bleeding diathesis. ⋯ Proband2 was homozygote for a novel single nucleotide deletion (c.212delA) leading to early stop codon. The discovered mutations explain the severity of clinical symptoms and the laboratory data. Methods precise in the low activity/antigen range are required to draw valid conclusion on phenotype-genotype relationship.