Ollier disease and Maffucci syndrome are non-hereditary skeletal disorders characterized by multiple enchondromas (Ollier disease) combined with spindle cell hemangiomas (Maffucci syndrome). We report somatic heterozygous IDH1 (R132C and R132H) or IDH2 (R172S) mutations in 87% of enchondromas, benign cartilage tumors, and in 70% of spindle cell hemangiomas, benign vascular lesions. In total, 35 of 43 (81%) patients with Ollier disease and 10 of 13 (77%) patients with Maffucci syndrome carried IDH1 (98%) or IDH2 (2%) mutations in their tumors. Fourteen of sixteen patients displayed identical mutations in separate lesions. Immunohistochemistry for mutant R132H IDH1 protein suggested intraneoplastic and somatic mosaicism. IDH1 mutations in cartilage tumors are associated with hypermethylation and downregulation of expression of several genes. Mutations were also found in 40% of solitary central cartilaginous tumors and in four chondrosarcoma cell lines, enabling functional studies to assess the role of IDH1 and IDH2 mutations in tumor formation.
No difference in hip functional outcomes was observed between labral debridement and labral repair in arthroscopic treatment of femoroacetabular impingement.
The results indicated that fixator-assisted nailing carries deformity correction accuracy comparable with Ilizarov-type external fixators. FAN provides great patient comfort and the total treatment time is less. In patients with rickets, the retained IM nail can further provide protection against recurrence even if the metabolic pathology reoccurs.
This report describes the treatment of 2 cases of full-thickness cartilage defect of the femoral head. The authors performed osteochondral autologous transplantation with a different technique that has not been reported to date. One patient was 37 years old, and the other was 42 years old. Both presented with hip pain. In both patients, radiograph and magnetic resonance imaging scan showed a focal chondral defect on the weight-bearing area of the femoral head and acetabular impingement. A retrograde osteochondral autologous transplantation technique combined with hip arthroscopy and arthroscopic impingement treatment was performed. After a 2-month recovery period, the symptoms were resolved. In the first year of follow-up, Harris Hip scores improved significantly (case 1, 56.6 to 87.6; case 2, 58.6 to 90). The technique described yielded good short- and midterm clinical and radiologic outcomes. To the authors' knowledge, this report is the first to describe a retrograde osteochondral transplantation technique performed with hip arthroscopy in the femoral head.
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