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Objective: Outcomes from in vitro fertilization (IVF)/intrauterine insemination (ICSI) cycles for patients who underwent preimplantation genetic testing for monogenic/single gene (PGT-M) and structural chromosome rearrangements (PGT-SR) patients were reviewed. Patients pursuing PGT-M and PGT-SR often do not have pre-existing fertility issues and therefore may have uncertain expectations of successful outcomes. Before pursuing PGT-M and PGT-SR, patients require evidence-based counseling regarding the probability of having a healthy child., Method: Retrospective review from a single private IVF clinic of 73 PGT patients, from whom a total of 437 blastocysts were biopsied and screened. Embryo results and pregnancy outcomes were analyzed., Results: Of the 45 PGT-M patients, 64.4% had at least one euploid unaffected embryo. The cumulative pregnancy rate for patients who had embryo transfers in this group was 89.7%, with an ongoing pregnancy or delivery rate of 48.9%. For the 28 PGT-SR patients, 60.7% had at least one euploid unaffected embryo. The cumulative pregnancy rate for patients who had embryo transfers in this group was 87.5%, with an ongoing pregnancy or delivery rate of 42.9%., Conclusion: This information can supplement the existing data in the literature to counsel new patients in terms of realistic expectations of success following PGT-M and PGT-SR., (© 2019 John Wiley & Sons, Ltd.)

Background: Failure to rescue, which is defined as the probability of death after a complication that was not present on admission, was introduced as a quality measure in the 1990s, to complement mortality and morbidity outcomes. The objective of this study was to evaluate possible incremental benefits of measuring failure to rescue after cardiac surgery, to facilitate quality improvement efforts., Methods: Data were collected prospectively on 4,978 consecutive patients who underwent cardiac operations during a 5-year period. Institutional logistic regression models were used to generate predicted rates of mortality and major complications. Frequency distributions of morbidities were determined, and failure to rescue was calculated. The annual failure-to-rescue rates were contrasted using χ(2) tests and compared with morbidity and mortality measures., Results: The overall mortality rate was 3.6%, the total complication rate was 16.8%, and the failure-to-rescue rate was 19.8% (95% confidence interval, 17.1% to 22.7%). The predicted risk of mortality and of major complications increased during the last 2 years of the study, whereas the observed complication rate decreased. Failure to rescue for new renal failure was the highest of all complications (48.4%), followed by septicemia (42.6%). Despite the decreased complication rate toward the end of the study, the failure-to-rescue rate did not change significantly (p = 0.28)., Conclusions: Failure to rescue should be monitored as a quality-of-care metric, in addition to mortality and complication rates. Postoperative renal failure and septicemia still have a high failure-to-rescue rate and should be targeted by quality improvement efforts., (Copyright © 2014 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.)

Background: There is currently little information on the genetic epidemiology of Alzheimer disease (AD) among North American Aboriginal populations. No cases of familial AD (FAD) in these populations have been published to date., Methods: Here, we describe a large North American Aboriginal kindred with early onset FAD (EOFAD) in which genetic testing was done., Results and Conclusions: A novel Presenilin 1 (PS1) gene mutation (L250F) has been identified. In contrast to the three previously reported families with PS1 codon 250 mutations, affected members of this kindred demonstrate neither myoclonus nor seizures. Furthermore, the identification of a PS1 mutation in a North American Aboriginal kindred presents several unique challenges with respect to knowledge transfer and continuity of care in a geographically remote and culturally distinct community.

In patients with haemophilia, repeated bleeding events result in significant comorbid conditions that can degrade health-related quality of life. Clinician-reported symptom measures are available for use in patients with haemophilia A or B; however, there has not been a validated patient-reported symptom evaluation instrument available for haemophilia to date. The objective of this study was to develop and evaluate a self-report instrument, the HAEMO-SYM, for measuring symptom severity in patients with haemophilia. Eighty-four haemophilic subjects from Canada and the USA were enrolled and completed the HAEMO-SYM, SF-36, and Health Assessment Questionnaire-Functional Disability Index (HAQ-FDI). Four-week reproducibility was evaluated in 72 stable subjects. Construct validity was assessed by correlating subscale scores with the SF-36, HAQ-FDI, a coping questionnaire and clinical scores. The final 17-item HAEMO-SYM has two subscales: pain and bleeds. Internal consistency reliability was good (Cronbach's alphas, 0.86-0.94) and test-retest reliability was good (Intraclass Correlation Coefficients, 0.75-0.94). HAEMO-SYM subscale scores were significantly correlated with SF-36 scores (P < 0.05 for all except HAEMO-SYM Pain and SF-36 Mental Health), HAQ-FDI scores (P < 0.05 for all but HAEMO-SYM Bleeds with HAQ-FDI Hygiene and Reach), Gilbert scale (P < 0.01), coping (P < 0.05) and global pain (P < 0.001). Mean HAEMO-SYM scores varied significantly in groups defined by severity, HIV status and treatment regimen. Greater symptom severity was associated with more severe disease, HIV-positive status and prophylaxis treatment. The results of this study suggest that the HAEMO-SYM, a haemophilia-specific symptom severity instrument, has good reliability and provides evidence that supports construct validity in patients with haemophilia.

Purpose: It is controversial as to whether cardiac surgery patients are optimally managed in a mixed medical-surgical intensive care unit (ICU) or in a specialized postoperative unit. We conducted a prospective cohort study in an academic health sciences centre to compare outcomes before and following the opening of a specialized cardiac surgery recovery unit (CSRU) in April 2005., Methods: The study cohort included 2,599 consecutive patients undergoing coronary artery bypass grafting (CABG), valve and combined CABG-valve procedures from April 2004 to March 2006. From April 2004 to March 2005 (year 1) all patients received postoperative care in mixed medical-surgical ICUs at two different sites staffed by critical care consultants, fellows and residents. From April 2005 until March 2006 (year 2) patients were cared for in a newly-established CSRU on one site staffed by cardiac anesthesiology fellows, a nurse practitioner and consultants in critical care, cardiac anesthesiology and cardiac surgery. The effect of this change on in-hospital mortality, the incidence of ten major postoperative complications, postoperative ventilation hours, readmission rates and case cancellations due to a lack of capacity was assessed using Chi-square or Wilcoxon tests, where appropriate., Results: Coronary artery bypass grafting, valve and combined CABG-valve mortality rates were similar in years 1 and 2. There was a significant reduction in the composite major complication rate (16.3% to 13.0%, P=0.02) and in median postoperative ventilation hours (8.8 vs 8.0 hr, P=0.005) from year 1 to 2. On multivariable logistic regression analysis, the pre-merger interval (year 1) was a significant independent predictor of the occurrence of death or major complications., Conclusion: A specialized CSRU with a multi-disciplinary consultant model was associated with stable or improved outcomes postoperatively, when compared to a mixed medical- surgical ICU model of cardiac surgical care.

Purpose: To assess the knowledge base of Canadian anesthesiologists regarding the management of perioperative cardiac arrest., Methods: A random sample of 200 Canadian Anesthesia Society members were mailed a survey composed of 10 clinical vignettes, each involving a special perioperative resuscitation situation, with six multiple choice options for optimum management. Fourteen possible "lethal errors" (options which are unequivocally harmful to the patient) were identified among the possible choices. Each question had a single correct answer and contributed a single point towards a possible maximum of ten. An arbitrary passing score of 70%, similar to the American Heart Association (AHA) standard for Advanced Cardiac Life Support course (ACLS), was selected. Respondents were asked demographic information including: time since completing residency, time since last ACLS course, provision of cardiac anesthesia and attitude towards utility of AHA protocols in anesthesia practice., Results: A total of 124 surveys were returned. The median score was five with a range of scores from zero to nine. Fifty-eight (56.3%) participants chose at least one "lethal error". Only 17 respondents (13.7%) attained the minimum score of 70% and avoided a "lethal error". Respondents who practiced cardiac anesthesia tended to achieve higher scores (P < 0.05) than generalists. All but one participant indicated that a Continuing Medical Education resource covering this material would be useful., Conclusions: This survey demonstrates a knowledge deficit concerning special perioperative resuscitation situations. Development of further appropriate research and educational material in this area is justified.