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SummaryMutation is a fundamental process in tumorigenesis. However, the degree to which the rate of somatic mutation varies across the human genome and the mechanistic basis underlying this variation remain to be fully elucidated. Here, we performed a cross-cancer comparison of 402 whole genomes comprising a diverse set of childhood and adult tumors, including both solid and hematopoietic malignancies. Surprisingly, we found that the inactive X chromosome of many female cancer genomes accumulates on average twice and up to four times as many somatic mutations per megabase, as compared to the individual autosomes. Whole-genome sequencing of clonally expanded hematopoietic stem/progenitor cells (HSPCs) from healthy individuals and a premalignant myelodysplastic syndrome (MDS) sample revealed no X chromosome hypermutation. Our data suggest that hypermutation of the inactive X chromosome is an early and frequent feature of tumorigenesis resulting from DNA replication stress in aberrantly proliferating cells.

Ankle fractures are accompanied by a syndesmotic injury in about 10% of operatively treated ankle fractures. Usually, the total rupture of the syndesmotic ligaments with an external rotation force is associated with a Weber type B or C fracture or a Maisonneuve fracture. The clinical assessment should consist of a comprehensive history including mechanism of injury followed by a specific physical examination. Radiographs, and if in doubt magnetic resonance imaging, are needed to ascertain the syndesmotic injury. In the case of operative treatment the method of fixation, the height and number of screws and the need for hardware removal are still under discussion. Furthermore, intraoperative assessment of the accuracy of reduction of the fibula in the incisura using fluoroscopy is difficult. A possible solution might be the assessment with intraoperative three-dimensional imaging. The aim of this article is to provide a current concepts review of the clinical presentation, diagnosis and treatment of syndesmotic injuries.

Introduction The aim of this study was to evaluate the intraoperative revision rate and reasons for revision following 3D imaging in the management of dislocated articular tibial plateau fractures based on a large patient sample. Methods This retrospective cohort study included all patients who underwent open reduction and internal fixation due type B or C tibial plateau fracture according to the AO/OTA classification between August 2001 and December 2017 using intraoperative cone beam CT (3D imaging) for the analysis of fracture reduction and implant placement. The findings of the 3D scan were categorized regarding the amount and type of revision. Furthermore, demographic data was examined. Results Five hundred and fifty-nine consecutive fractures were included in the study. Evaluation of the image data records revealed an intraoperative revision due to the usage of 3D imaging in 148 out of 559 cases (26.5%). The most common reasons for an intraoperative revision were insufficient fracture reduction (114 cases) and screw length (21 cases). Conclusion This study reveals indications for a limited analysis of fracture reduction and implant placement during the operative treatment of dislocated articular tibial plateau fractures using conventional fluoroscopy. In view of the high revision rate during open reduction and internal fixation of tibial plateau fractures due to 3D imaging the usage of intraoperative cone beam, CT may be considered. If this is not possible, a postoperative computed tomography may therefore be reasonable.