Performance Characteristics of Next-Generation Sequencing for the Detection of Antimicrobial Resistance Determinants in Escherichia coli Genomes and Metagenomes.

Short-read sequencing can provide detection of multiple genomic determinants of antimicrobial resistance from single bacterial genomes and metagenomic samples. Despite its increasing application in human, animal, and environmental microbiology, including human clinical trials, the performance of short-read Illumina sequencing for antimicrobial resistance gene (ARG) detection, including resistance-conferring single nucleotide polymorphisms (SNPs), has not been systematically characterized. Using paired-end 2 × 150 bp (base pair) Illumina sequencing and an assembly-based method for ARG prediction, we determined sensitivity, positive predictive value (PPV), and sequencing depths required for ARG detection in an Escherichia coli isolate of sequence type (ST) 38 spiked into a synthetic microbial community at varying abundances.

Methodology for the nocturnal cardiac arrhythmia ancillary study of the ADVENT-HF trial in patients with heart failure with reduced ejection fraction and sleep-disordered breathing.

Background: Sleep disordered breathing (SDB) may trigger nocturnal cardiac arrhythmias (NCA) in patients with heart failure with reduced ejection fraction (HFrEF). The NCA ancillary study of the ADVENT-HF trial will test whether, in HFrEF-patients with SDB, peak-flow-triggered adaptive servo-ventilation (ASVpf) reduces NCA. To this end, accurate scoring of NCA from polysomnography (PSG) is required.

Diagnostic Accuracy of Cardiac MRI versus FDG PET for Cardiac Sarcoidosis: A Systematic Review and Meta-Analysis.

Background There is limited consensus regarding the relative diagnostic performance of cardiac MRI and fluorodeoxyglucose (FDG) PET for cardiac sarcoidosis. Purpose To perform a systematic review and meta-analysis to compare the diagnostic accuracy of cardiac MRI and FDG PET for cardiac sarcoidosis. Materials and Methods Medline, Ovid Epub, Cochrane Central Register of Controlled Trials, Embase, Emcare, and Scopus were searched from inception until January 2022.

Albumin use for fluid resuscitation in cardiac surgical patients: a survey of Canadian perioperative care providers.

Purpose: To evaluate the perceptions and practices of Canadian cardiovascular anesthesiologists and intensivists towards intravenous albumin as a resuscitation fluid in patients undergoing cardiac surgery.

Methods: We conducted a cross-sectional survey of cardiac anesthesiologists and intensivists involved in the care of cardiac surgical patients. The 22-item survey included seven open-ended questions and assessed practice patterns and attitudes towards albumin.

Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.

PAN2 encodes a subunit of a deadenylation complex with important functions in mRNA stability and post-transcriptional regulation of gene expression. A homozygous frameshift deletion in PAN2 was reported in a single affected individual with developmental delay and multiple congenital anomalies. Here, we describe five additional individuals from three unrelated families with homozygous predicted loss-of-function variants in PAN2.

Genomic study of a large family with complex neurological phenotype including hearing loss, imbalance and action tremor.

Neurological disorders are often associated with a variety of symptoms, which can result from the combined action of genetic variants. We conducted a whole-genome analysis of a previously unreported unique multigenerational Dutch-Canadian family with a complex phenotype presenting with a combination of hearing loss, balance issues or action tremor. Ten family members were available for genetic study.

The association of prothrombin complex concentrates with postoperative outcomes in cardiac surgery: an observational substudy of the FIBRES randomized controlled trial.

Purpose: The mainstay of therapy for coagulation factor deficiency in cardiac surgical patients is frozen plasma (FP); however, prothrombin complex concentrates (PCCs) may offer logistical and safety advantages. As there is limited comparative evidence, we conducted this study to explore the association of comparable PCC or FP doses with transfusion and outcomes.

Methods: This was a post hoc analysis of a multicentre randomized trial comparing fibrinogen concentrate with cryoprecipitate (FIBRES trial) in bleeding cardiac surgical patients.

Impact of Off Periods on Persons With Parkinson Disease and Care Partners: A Qualitative Study.

Background: The definition of off periods proposed in 2018 emphasizes functional disability as part of the off period experience, but limited research to date investigates the functional impact of off periods on persons with Parkinson disease and care partners. This study aimed to investigate the impact of off periods on both persons with Parkinson disease and care partners through interviews of dyads living with motor and/or nonmotor fluctuations.

Methods: Investigators performed interviews separately with persons with Parkinson disease and care partners using a semistructured questionnaire.

Albumin use in bleeding cardiac surgical patients and associated patient outcomes.

Purpose: Albumin solution is a colloid used for resuscitation in cardiac surgical patients, but it is unclear if it offers advantages over crystalloids. We examined current clinical practice across 11 cardiac surgical centres and the association of albumin with outcomes in a cohort of bleeding cardiac surgical patients.

Methods: This was a post hoc analysis of data from the Effect of Fibrinogen Concentrate vs Cryoprecipitate on Blood Component Transfusion After Cardiac Surgery (FIBRES) trial.

Canadian Airway Focus Group updated consensus-based recommendations for management of the difficult airway: part 2. Planning and implementing safe management of the patient with an anticipated difficult airway.

Purpose: Since the last Canadian Airway Focus Group (CAFG) guidelines were published in 2013, the published airway management literature has expanded substantially. The CAFG therefore re-convened to examine this literature and update practice recommendations. This second of two articles addresses airway evaluation, decision-making, and safe implementation of an airway management strategy when difficulty is anticipated.

Occurrence of Amyotrophic Lateral Sclerosis in Type 1 Gaucher Disease.

Objective: To report the association between type 1 Gaucher disease (GD1) and amyotrophic lateral sclerosis (ALS) in 3 unrelated families and to explore whether variants influence the risk of ALS.

Methods: We conducted retrospective chart reviews of patients with GD1 or their family members diagnosed with ALS. To further investigate whether there is an association between ALS and GD, we performed exploratory analyses for the presence of variants in 3 ALS cohorts from Toronto (Canada), Montreal (Canada), and Project MinE (international), totaling 4,653 patients with ALS and 1,832 controls.

A Rare Autosomal Dominant Variant in Regulator of Calcineurin Type 1 () Gene Confers Enhanced Calcineurin Activity and May Cause FSGS.

Background: Podocyte dysfunction is the main pathologic mechanism driving the development of FSGS and other morphologic types of steroid-resistant nephrotic syndrome (SRNS). Despite significant progress, the genetic causes of most cases of SRNS have yet to be identified.

Methods: Whole-genome sequencing was performed on 320 individuals from 201 families with familial and sporadic NS/FSGS with no pathogenic mutations in any known NS/FSGS genes.

Genetics of hypogonadotropic hypogonadism.

Male congenital hypogonadotropic hypogonadism (CHH) is a heterogenous group of genetic disorders that cause impairment in the production or action of gonadotropin releasing hormone (GnRH). These defects result in dysfunction of the hypothalamic-pituitary-gonadal hormone axis, leading to low testosterone levels and impaired fertility. Genetic testing techniques have expanded our knowledge of the underlying mechanisms contributing to CHH including over 30 genes to date implicated in the development of CHH.

Comparison of 4-Factor Prothrombin Complex Concentrate With Frozen Plasma for Management of Hemorrhage During and After Cardiac Surgery: A Randomized Pilot Trial.

Importance: Approximately 15% of patients undergoing cardiac surgery receive frozen plasma (FP) for bleeding. Four-factor prothrombin complex concentrates (PCCs) have logistical and safety advantages over FP and may be a suitable alternative.

Objectives: To determine the proportion of patients who received PCC and then required FP, explore hemostatic effects and safety, and assess the feasibility of study procedures.

Transitions in oral and gut microbiome of HPV+ oropharyngeal squamous cell carcinoma following definitive chemoradiotherapy (ROMA LA-OPSCC study).

Background: Oral and gut microbiomes have emerged as potential biomarkers in cancer. We characterised the oral and gut microbiomes in a prospective observational cohort of HPV+ oropharyngeal squamous cell carcinoma (OPSCC) patients and evaluated the impact of chemoradiotherapy (CRT).

Methods: Saliva, oropharyngeal swabs over the tumour site and stool were collected at baseline and post-CRT.

Characteristics and outcomes of hospital admissions for COVID-19 and influenza in the Toronto area.

Background: Patient characteristics, clinical care, resource use and outcomes associated with admission to hospital for coronavirus disease 2019 (COVID-19) in Canada are not well described.

Methods: We described all adults with COVID-19 or influenza discharged from inpatient medical services and medical-surgical intensive care units (ICUs) between Nov. 1, 2019, and June 30, 2020, at 7 hospitals in Toronto and Mississauga, Ontario.

Standardizing Diagnostic and Surgical Approach to Management of Bile Duct Injuries After Cholecystectomy: Long-Term Outcomes of Patients Treated at a High-Volume HPB Center.

Background: Optimal diagnostic and surgical approaches for patients with bile duct injuries (BDI) remain debated. This study reviews results from a standardized approach to management of high-grade BDIs at a North American center.

Design: Patients undergoing surgical repair for BDIs over a 15-year period were included.

Predicting Long-term Survival After Liver Transplantation in Patients With NASH Cirrhosis.

Nonalcoholic steatohepatitis (NASH) cirrhosis is the second most common indication for liver transplantation (LT) in the United States. Patients are increasingly older at presentation, with higher rates of metabolic syndrome, obesity, hyperlipidemia, diabetes mellitus, and renal failure. They are also at higher risk of cardiovascular events and mortality while on the waiting list and in the post-transplant period.

Gender-Based Differences in Outcomes Among Resuscitated Patients With Out-of-Hospital Cardiac Arrest.

Background: Studies examining gender-based differences in outcomes of patients experiencing out-of-hospital cardiac arrest have demonstrated that, despite a higher likelihood of return of spontaneous circulation, women do not have higher survival.

Methods: Patients successfully resuscitated from out-of-hospital cardiac arrest enrolled in the CCC trial (Trial of Continuous or Interrupted Chest Compressions during CPR) were included. Hierarchical multivariable logistic regression models were constructed to evaluate the association between gender and survival after adjustment for age, gender, cardiac arrest rhythm, witnessed status, bystander cardiopulmonary resuscitation, episode location, epinephrine dose, emergency medical services response time, and duration of resuscitation.

Exploring the Mental Health Needs of Persons With Autoimmune Diseases During the Coronavirus Disease 2019 Pandemic: A Proposed Framework for Future Research and Clinical Care.

Although the coronavirus disease 2019 (COVID-19) pandemic has been associated with increased psychological distress globally, it poses unique challenges to persons who are potentially more vulnerable to its effects, including patients with autoimmune disease. In this article, we review the published literature and media reports to determine factors that may contribute to mental health challenges in persons with autoimmune disease. We then explore existing mental health interventions that have been developed for use in COVID-19 and in patients with autoimmune disorders in general.

Needs assessment for a decision support tool in oral cancer requiring major resection and reconstruction: a mixed-methods study protocol.

Introduction: Advanced oral cancer and its ensuing treatment engenders significant morbidity and mortality. Patients are often elderly with significant comorbidities. Toxicities associated with surgical resection can be devastating and they are often highlighted by patients as impactful.

A Microbiota-Derived Metabolite Augments Cancer Immunotherapy Responses in Mice.

Improving the rate of patient response to immune checkpoint blockade therapy is a current clinical goal. An article published in Science suggests that some members of the gut microbiome may provide a key molecule toward this end.