Osteosarcoma in the distal femur two years after an ipsilateral femoral shaft fracture: a case report

<p>Abstract</p> <p>Introduction</p> <p>The duration of symptoms preceding a definitive diagnosis of osteosarcoma is quite long. Pathological radiological signs are often evident by the time of diagnosis. Although several case reports have been published on osteosarcoma of the femur, to the best of our knowledge this report is the first one with such an unusual clinical course.</p> <p>Case presentation</p> <p>We describe the case of a 58-year-old Caucasian man who presented with a femoral shaft fracture. Two years post-trauma osteosarcoma in the ipsilateral distal femur was diagnosed. Was it coincidence? We think that the history of the trauma is crucial to answering this question.</p> <p>Conclusion</p> <p>This case report underlines the need to keep up awareness of pathological fractures in emergency medicine and trauma surgery. When radiographs do not raise any suspicion but the history of trauma or the physical examination does, we recommend further radiological and/or histological diagnostic examinations.</p

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology

Decision diversion in diverse teams: Findings from inside a corporate boardroom

Using qualitative data from a 5-year participant observation study conducted inside the corporate board of a publicly-held company, we discovered what happened when team composition changed to increase the diversity of perspectives and interests represented on the team. Based on board meeting transcripts over the 5-year period, we observed that a change in team composition was followed by a process we label decision diversion, a dysfunctional process in which the team replaced its goal of effective task performance with negotiating the interests of subgroup members. A key insight of our study is that this process unfolded as team members attempted to engage in effective task-based information analysis and decision-making. Our study suggests that the traditional assumptions underlying the understanding of team composition may be insufficient. We provide alternative explanations for the origins of the dynamics of decision diversion in teams. In their search for the microprocesses through which diverse team members interact with one another, Harvey, Currall, and Hammer discover a process they call decision diversion: the team’s replacement of its goal of effective task performance with negotiating the interests of subgroup members. This discovery emerges from the in-depth, longitudinal study of the meetings of a corporate board. Quoting one of the referees, “the interesting insight is that increases in the diversity of perspectives and interests represented on the board required processing and integrating large amounts of complex information which the board failed to do, resulting in decision diversion.” This finding challenges some established assumptions, and its implications for our understanding of team composition suggest new questions for research on team diversity

Breaking point: the genesis and impact of structural variation in tumours

Somatic structural variants undoubtedly play important roles in driving tumourigenesis. This is evident despite the substantial technical challenges that remain in accurately detecting structural variants and their breakpoints in tumours and in spite of our incomplete understanding of the impact of structural variants on cellular function. Developments in these areas of research contribute to the ongoing discovery of structural variation with a clear impact on the evolution of the tumour and on the clinical importance to the patient. Recent large whole genome sequencing studies have reinforced our impression of each tumour as a unique combination of mutations but paradoxically have also discovered similar genome-wide patterns of single-nucleotide and structural variation between tumours. Statistical methods have been developed to deconvolute mutation patterns, or signatures, that recur across samples, providing information about the mutagens and repair processes that may be active in a given tumour. These signatures can guide treatment by, for example, highlighting vulnerabilities in a particular tumour to a particular chemotherapy. Thus, although the complete reconstruction of the full evolutionary trajectory of a tumour genome remains currently out of reach, valuable data are already emerging to improve the treatment of cancer

Trust Between International Joint Venture Partners: Effects of Home Countries

Trust is an important factor in interorganizational relations. Interorganizational trust in cross-border relationships is likely to be influenced by the home countries of both partners. Using data on 165 international joint ventures (IJVs), we show that the perceived trustworthiness of an IJV partner is influenced by the general propensity to trust in the trustor's home country. Moreover, the trustworthiness perceived by a focal parent firm is also affected by the home country of the other IJV partner. This second effect is mitigated by experience between the partners