Fibrodysplasia ossificans progressiva as a form of pseudodystonia

Our aim was to add to the list of pseudodystonia published by Berlot et al. a relatively rare, but possible form, describing fibrodysplasia ossificans progressiva (FOP) as an entity that can mimic dystonia (accompanied with video). We also provide the first report on the botulinum toxin type A (BoNT/A) therapy in FOP. We describe potential mechanisms that can be responsible for the good outcome of BoNT/A therapy observed in our patient.     

运动损伤所致骨化性肌炎临床与病理分析

目的：探讨运动损伤所致骨化性肌炎的临床和病理特征。方法分析12例骨化性肌炎患者的临床和病理学资料。结果12例患者均有外伤史。其中,下肢软组织6例,上肢和腰背部各2例,臀部和颈部各1例。光镜下显示特征性的区带结构,为位于中央的纤维细胞和周边的骨组织增生;免疫组化染色显示细胞阳性表达平滑肌肌动蛋白、肌动蛋白、波形蛋白。结论骨化性肌炎是局限性、自限性的修复性病变,好发于四肢软组织;早期病变应注意与骨外骨肉瘤、指趾纤维骨性假瘤、骨纤维结构不良等鉴别。     

Genetic disorders with heterotopic ossificans

Fibrodysplasia ossificans progressiva (FOP) and progressive ossific heteroplasia (POH) are rare genetic disorders characterized by heterotopic bone formation leading to progressive loss of mobility and function. We report three cases of these rare disorders (two cases of FOP and one case of POH), which were clinically diagnosed and underwent genetic analysis. The aim of this report is to highlight the clinical features and the differences between these two conditions. We would also like to emphasize on the morbidity that can arise from unnecessary invasive investigations for diagnostic purposes.     

创伤性肘关节骨化性肌炎的预防治疗

目的:探讨如何运用早期复位、止血、血肿穿刺及骨折术后引流等方法预防肘部脱位及骨折时骨化性肌炎的发生。方法:总结分析2001年6月～2006年1月笔者用该方法治疗128例肘部关节脱位、骨折患者的临床治疗资料并与此前76例未采取该治疗方法的病例进行对比评定。结果:128例肘部关节脱位、骨折在1年随访期内,仅出现骨位性炎病例1例。结论:肘部关节脱位、骨折的早期及时良好的复位、患部冰敷、血肿穿刺及骨折术后正确的引流、早中期非抗力性主动功能锻炼能有效降低骨化性肌炎的发生。     

Impaction bone grafting with freeze-dried irradiated bone. Part I. Femoral implant stabilityCadaver experiments in a hip simulator

Processed freeze-dried irradiated allografts seem to be used less than instead of fresh-frozen allografts for impaction bone grafting in revision hip arthroplasties. Although biologically acceptable, their use is discouraged because of their questionable mechanical properties following freeze-drying and irradiation procedures. To address this question, we impacted freeze-dried grafts in 6 cadaveric femurs and loaded with a cemented Charnley prosthesis. The routinely used fresh-frozen allografts were used as controls in the contralateral side. These constructs were compared simultaneously in a walking hip simulator for their stability during 900,000 loading cycles. The mechanical parameters were axial inducible displacement and subsidence of the implant. The former parameter was lower in the implant mounted on freeze-dried impacted grafts than that mounted on the fresh-frozen bone. The latter parameter was also lower in the freeze-dried group. At the end of the test, we found no implant loosening in either group and their pull out resulted in cement-prosthesis debonding, which showed the mechanical integrity of the impacted grafts. Freeze-dried grafts provide more stable fixation of the stem than fresh-frozen morselized grafts, when tested in a hip simulator.     

Thoracic insufficiency syndrome in patients with fibrodysplasia ossificans progressiva

Patients with fibrodysplasia ossificans progressiva (FOP) develop thoracic insufficiency syndrome (TIS), which can lead to life-threatening complications. Features contributing to TIS in patients with FOP include costovertebral malformations with orthotopic ankylosis of the costovertebral joints; ossification of intercostal muscles, paravertebral muscles, and aponeuroses; and progressive spinal deformity, including kyphoscoliosis or thoracic lordosis. Pneumonia and right-sided congestive heart failure are the major life-threatening hazards that result from TIS in patients with FOP. Prophylactic measures to maximize pulmonary function, minimize respiratory compromise, and prevent influenza and pneumonia may be helpful in decreasing the morbidity and mortality from TIS in patients with FOP.