BackgroundAutism spectrum disorders and schizophrenia have been associated with an overlapping set of copy number variant loci, but the nature and degree of overlap in copy number variants (deletions compared to duplications) between these two disorders remains unclear.MethodsWe systematically evaluated three lines of evidence: (1) the statistical bases for associations of autism spectrum disorders and schizophrenia with a set of the primary CNVs thus far investigated, from previous studies; (2) data from case series studies on the occurrence of these CNVs in autism spectrum disorders, especially among children, and (3) data on the extent to which the CNVs were associated with intellectual disability and developmental, speech, or language delays. We also conducted new analyses of existing data on these CNVs in autism by pooling data from seven case control studies.ResultsFour of the CNVs considered, dup 1q21.1, dup 15q11-q13, del 16p11.2, and dup 22q11.21, showed clear statistical evidence as autism risk factors, whereas eight CNVs, del 1q21.1, del 3q29, del 15q11.2, del 15q13.3, dup 16p11.2, dup 16p13.1, del 17p12, and del 22q11.21, were strongly statistically supported as risk factors for schizophrenia. Three of the CNVs, dup 1q21.1, dup 16p11.2, and dup 16p13.1, exhibited statistical support as risk factors for both autism and schizophrenia, although for each of these CNVs statistical significance was nominal for tests involving one of the two disorders. For the CNVs that were statistically associated with schizophrenia but were not statistically associated with autism, a notable number of children with the CNVs have been diagnosed with autism or ASD; children with these CNVs also demonstrate a high incidence of intellectual disability and developmental, speech, or language delays.ConclusionsThese findings suggest that although CNV loci notably overlap between autism and schizophrenia, the degree of strongly statistically supported overlap in specific CNVs at these loci remains limited. These analyses also suggest that relatively severe premorbidity to CNV-associated schizophrenia in children may sometimes be diagnosed as autism spectrum disorder.

Background Women are underrepresented at higher levels of promotion or leadership despite the increasing number of women physicians. In surgery, this has been compounded by historical underrepresentation. With a nation-wide focus on the importance of diversity, our aim was to provide a current snapshot of gender representation in Canadian universities. Methods This cross-sectional online website review assessed the current faculty listings for 17 university-affiliated academic surgical training departments across Canada in the 2019/2020 academic year. Gender diversity of academic surgical faculty was assessed across surgical disciplines. Additionally, gender diversity in career advancement, as described by published leadership roles, promotion and faculty appointment, was analyzed. Results Women surgeons are underrepresented across Canadian surgical specialties (totals: 2,689 men versus 531 women). There are significant differences in the gender representation of surgeons between specialties and between universities, regardless of specialty. Women surgeons had a much lower likelihood of being at the highest levels of promotion (OR: 0.269, 95% CI: 0.179–0.405). Men surgeons were statistically more likely to hold academic leadership positions than women (p = 0.0002). Women surgeons had a much lower likelihood of being at the highest levels of leadership (OR: 0.372, 95% CI: 0.216–0.641). Discussion This study demonstrates that women surgeons are significantly underrepresented at the highest levels of academic promotion and leadership in Canada. Our findings allow for a direct comparison between Canadian surgical subspecialties and universities. Individual institutions can use these data to critically appraise diversity policies already in place, assess their workforce and apply a metric from which change can be measured.

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Purpose: Nonsyndromic sagittal craniosynostosis is treated surgically to improve skull cosmesis and to decrease the risk of raised intracranial pressure. The purpose of this study is to compare the outcomes of two current surgical techniques for craniosynostosis treatment, open and endoscopic strip craniectomy. Methods: A single institution retrospective chart review was conducted of patients with nonsyndromic sagittal craniosynostosis treated surgically from 2011 to 2016. Patients were divided into two groups based on surgical technique: open or endoscopic strip craniectomy. The head shape was assessed using pre- and postoperative cephalic index (CI). Complications and operative details were compared. Mean absolute CI over time and 95% confidence intervals were graphed. Results: A total of 51 children (36 male, 15 female; 13 open, 38 endoscopic) were included with an average length of follow-up of 27.2 months (range 4-60). The median age at surgery was 4.0 months for open and 3.0 months for endoscopic. There was no significant difference in preoperative CI between endoscopic and open groups (0.67 vs 0.66). The largest improvements in CI were seen 3 to 6 months postoperatively. There was a significant improvement in postoperative CI for both groups (endoscopic 0.75, P = .02; open = 0.74, P < .01). From maximal postoperative CI to >2 year follow up there was no significant regression in CI for the endoscopic group ( P = .12) and a small regression for the open group (−0.02, P = .01). There were no transfusions, brain injuries, or deaths. Patients in the endoscopic group had significantly less blood loss intraoperatively ( P = .01) and a significantly shorter duration of hospital stay compared to the open group ( P < .001). Conclusions: Endoscopic and open surgical techniques are both effective treatments for nonsyndromic sagittal synostosis, with no difference in initial postoperative CI. These findings support the use of either technique and corroborate previous literature.

Background: Malpositioning of the glenoid component in total shoulder arthroplasty (TSA) remains the primary source of loosening. The purpose of this study is firstly, to quantify postoperative glenoid component position in patients having a TSA and secondly, to explore whether glenoid component radiolucency is associated with glenoid position, clinical outcomes and patient-reported measures in the short-term (two year) follow-up period. Methods: This study was a sub-study of a larger clinical trial that included patients who underwent a TSA and who were randomized into two different glenoid types with a minimum two-year follow-up period. Post-operative radiographic assessments (six weeks and two years) were used to measure glenoid component position (version, inclination, offset) and humeral head centering anterior–posterior (AP) and superior–inferior (SI), and to assess glenoid component radiolucent scoring (modified Lazarus). Pre-operative X-rays were used to measure glenoid version, inclination and Walch classification. Patient-reported measures (PROMs) included the EQ-5D health slider and the Western Ontario Osteoarthritis (WOOS) and American Shoulder and Elbow Surgeons (ASES) score and were captured at baseline and two years postoperative. Clinical outcomes including range of motion and complications were also documented. Statistical analysis included t-tests and regression modeling. Results: Ninety-one patients with an average age of 69.9 ± 6.2 years were included in this study. Glenoid component position improved significantly in version (−19.4 ± 8.6° to −17.7 ± 8.5°; p < 0.045) and inclination (11.5 ± 7.1° to 5.9 ± 6.3°; p < 0.00001) from preoperative to six weeks postoperative. Glenoid component offset in SI and humeral head centering in AP remained unchanged throughout the follow-up. Radiolucency (Lazarus classification) was recorded in 21 cases (17.3%) with a Lazarus score of 1 (15 cases) and 2 (6 cases). The EQ-5D health slider, WOOS and ASES, and ROM confirmed continuous improvements from the preoperative scores to the two-year follow-up (p < 0.05). Regression models showed no correlation between glenoid component radiolucency at two years and the postoperative week six glenoid component position; however, female gender was a significant variable. Conclusion: Glenoid component changes from its original native glenoid were observed following TSA. Glenoid inclination was improved more than version from baseline, and the humeral head remained well-centered in AP and SI at two years. Radiolucency of the glenoid at two years is not negatively associated with PROMs or component position; however, female gender was identified as a significant predictor and warrants further investigation. Complications are not associated with glenoid position or radiolucency, but longer-term follow-up is required.