Syndromes with congenital brittle bones

BACKGROUND: There is no clear definition of osteogenesis imperfecta (OI). The most widely used classification of OI divides the disease in four types, although it has been suggested that there may be at least 12 forms of OI. These forms have been named with numbers, eponyms or descriptive names. Some of these syndromes can actually be considered congenital forms of brittle bones resembling OI (SROI). DISCUSSION: A review of different syndromes with congenital brittle bones published in the literature is presented. Syndromes are classified in "OI" (those secondary to mutations in the type I pro-collagen genes), and "syndromes resembling OI" (those secondary to mutations other that the type I pro-collagen genes, identified or not). A definition for OI is proposed as a syndrome of congenital brittle bones secondary to mutations in the genes codifying for pro-collagen genes (COL1A1 and COL1A2). SUMMARY: A debate about the definition of OI and a possible clinical and prognostic classification are warranted

Treatment of pathological humeral shaft fractures with intramedullary nailing. A retrospective study

A consecutive series of 22 pathological fractures of the humeral shaft in 21 patients treated at one institution were included in this retrospective study. Patients were treated with anterograde locked intramedullary nailing. Mean follow-up was 22.7 months (range 3–60). Mean VAS score improved from 89.5 (range 80–100) to 14.5 (range 0–40). In most patients there was a satisfactory return to daily activities within six weeks of surgery. Seventeen of 19 patients reported to be satisfied. Mean duration of hospitalization after surgery was 4.3 days (range 2–15). There were no complications related to the implants. There were no operative complications and the average operation time was 48 minutes (range 35–160). The consolidation rate was 80%. We emphasize that suspicion of fracture and interdisciplinary work between oncologists and orthopaedic surgeons are of crucial importance for survival time and individual treatment

Outcome of operative treatment of metastatic fractures of the humerus: a systematic review of twenty three clinical studies

This systematic review aims to provide an overview of functional outcome and complications after surgery for metastatic humerus fractures. A literature search was performed in September 2013 using the Pubmed, Embase and Cochrane database. We included 23 studies reporting on 29 treatment arms: intramedullary nailing (19 studies, 596 cases), plate-screw fixation (five studies, 150 cases), endoprosthetic reconstruction (three studies, 81 cases), and diaphysis prosthesis (two studies, 82 cases), totalling 909 fractures. There were 414 pathological and 56 impending fractures. In 439 cases the type of fracture was not specified. Four studies reported functional outcome. Average Musculoskeletal Tumor Society score ranged from 64 to 79 (three studies, 100 patients) after intramedullary nailing, was 90 (one study, 24 patients) after plate-screw fixation, and 73 (one study, 30 patients) after endoprosthetic reconstruction. Re-operation rate varied from 0 to 10 % after intramedullary nailing (overall 4.4 %), 5-14 % after plate-screw fixation (overall 9.3 %), 14-16 % after diaphysis prosthesis (overall 14.6 %), and 0-6 % after endoprosthetic reconstruction (overall 2.5 %). Systemic complication rate varied between 0 and 26 % after intramedullary nailing (overall 2.2 %), between 0 and 6 % after plate-screw fixation (overall 4.8 %), was 0 % after endoprosthetic reconstruction, and varied between 0 and 16 % after diaphysis prosthesis (overall 9.7 %). Reported complication rates help surgeons inform their patients and could aid in surgical decision making. Functional outcome, pain and quality of life were poorly reported. Patient reported outcomes are therefore an important direction for future researc