Understanding the precise defect for each mutation may ultimately lead to better diagnosis and treatment. “
“Summary. Everolimus concentration The standard treatment for end-stage osteoarthritis of the ankle joint in haemophilic patients has been fusion of the ankle joint. Total ankle replacement is still controversial as a treatment option. The objective of this prospective study was to evaluate the mid-term outcome in patients treated with total ankle replacement using an unconstrained three-component
ankle implant. Ten haemophilic ankles in eight patients (mean age: 43.2 years, range 26.7–57.5) treated with total ankle replacement were followed up for a minimum of 2.7 years (mean: 5.6, range 2.7–7.6). The outcome was measured with clinical and radiological evaluations. There were no intra- or peri-operative complications. The AOFAS-hindfoot-score increased from 38 (range 8–57) preoperatively
to 81 (range 69–95) postoperatively. All patients were satisfied with the results. Four patients became pain free; in the whole patient cohort pain level decreased from 7.1 (range 4–9) preoperatively to 0.8 (range 0–3) postoperatively. All categories of SF-36 score showed significant improvements in quality of life. In one patient, open ankle arthrolysis was performed because of painful arthrofibrosis. For patients with haemophilic osteoarthritis of the ankle joint, total ankle replacement is a valuable alternative treatment to ankle fusion. “
“Outcome assessment in haemophilia is important to assess results of prophylactic treatment. Recently, the Haemophilia Joint Health Score (HJHS) was MCE developed to assess early joint Vemurafenib purchase damage in children with haemophilia. Thus, the aim of this study was
to assess reliability and explore validity of the HJHS in teenagers and young adults with haemophilia. Twenty-two patients with haemophilia (mean age 20.4, range 14–30, including 15 severe) were assessed by the HJHS1.0, Haemophilia Activities List (HAL), SF36 and self-evaluation was performed using a Visual Analogue Scale (VAS) scale. A subset of 12 patients were assessed by three physiotherapists to establish interobserver reliability (intraclass correlation coefficient: ICC). Total HJHS1.0 scores were calculated without overall global gait. Validity was explored by the assessment of Pearson’s correlation with all outcome parameters and recent Pettersson scores. Overall outcome was good, with median HJHS score of 5.5 of a maximum 144 (range 0–34), median patients’ VAS of 96.5 and maximum scores for HAL and SF36 physical functioning for the majority of patients. Pettersson scores were low (median 3.5 of 78, N = 18). Interobserver reliability was good (ICC 0.84), with limits of agreement of ±7.2 points. ICC was unaffected by different score calculation methods. Exploration of validity in 22 patients showed weak correlations of HJHS scores with patients’ VAS (0.33) and HAL (−0.40) and strong correlations with SF36-PF (−0.66) and Pettersson scores (0.