Newborn screening for common genetic variants associated with permanent hearing loss: Implementation in Ontario and a review of the first 3 years.

Purpose: Universal newborn hearing screening (UNHS) programs using audiometric techniques alone are limited in ability to detect non-congenital childhood permanent hearing loss (PHL). In 2019, Ontario launched universal newborn screening (NBS) for PHL risk factors: congenital cytomegalovirus (cCMV) and 22 common variants in GJB2 and SLC26A4. Here we describe our experience with genetic risk factor screening.

Cold and vibration for children undergoing needle-related procedures: A non-inferiority randomized clinical trial.

The use of a rapid, easy-to-use intervention could improve needle-related procedural pain management practices in the context of the Emergency Department (ED). As such, the Buzzy device seems to be a promising alternative to topical anesthetics. The aim of this study was to determine if a cold vibrating device was non-inferior to a topical anesthetic cream for pain management in children undergoing needle-related procedures in the ED.

The spatial separation of basic amino acids is similar in RHAMM and hyaluronan binding peptide P15-1 despite different sequences and conformations.

Peptides that increase pro-reparative responses to injury and disease by modulating the functional organization of hyaluronan (HA) with its cell surface binding proteins (e.g., soluble receptor for hyaluronan-mediated motility [RHAMM] and integral membrane CD44) have potential therapeutic value.

Carbon Footprint Reduction Associated With Multidisciplinary Pediatric Airway Clinics: A Program Evaluation Study.

Objective: Health care is a significant contributor to the climate crisis. Multidisciplinary clinics (MDC) may reduce carbon emissions by combining multiple appointments into one. This is the first program evaluation study to quantify the carbon footprint associated with multidisciplinary pediatric airway clinics.

Hypoglycemia as first presentation of presumed immune checkpoint inhibitor-induced type 1 diabetes.

We present a case of a 60-year-old male diagnosed with metastatic clear cell renal cell carcinoma who developed hypoglycemia during induction ipilimumab and nivolumab treatment. This was diagnosed as presumed type 1 diabetes mellitus secondary to immunotherapy.

Dual diagnosis of trisomy 21 and lethal perinatal Gaucher disease as a cause of non-immune hydrops fetalis in a twin pregnancy for a consanguineous couple.

Non-immune hydrops is a prenatal finding which can occur due to an underlying genetic diagnosis such as common chromosomal aneuploidy (Trisomy 21, Turner syndrome etc.). It is extremely rare to have more than one genetic cause of hydrops fetalis in a single pregnancy.

Developing and authenticating an electronic health record-based report card for assessing residents' clinical performance.

Purpose: The electronic health record (EHR) is frequently identified as a source of assessment data regarding residents' clinical performance. To better understand how to harness EHR data for education purposes, the authors developed and authenticated a prototype resident report card. This report card used EHR data exclusively and was authenticated with various stakeholders to understand individuals' reactions to and interpretations of EHR data when presented in this way.

The Alliance for Healthier Communities' journey to a learning health system in primary care.

Introduction: The Alliance for Healthier Communities represents community-governed healthcare organizations in Ontario, Canada including Community Health Centres, which provide primary care to more disadvantaged populations.

Methods: In this experience report, we describe the Alliance's journey towards becoming a learning health system using examples for organizational culture, data and analytics, people and partnerships, client engagement, ethics and oversight, evaluation and dissemination, resources, identification and prioritization, and deliverables and impact.

Results: Many of the foundational elements for a learning health system were already in place at the Alliance including an integrated and accessible data platform.

Stroke-Heart Syndrome: Recent Advances and Challenges.

After ischemic stroke, there is a significant burden of cardiovascular complications, both in the acute and chronic phase. Severe adverse cardiac events occur in 10% to 20% of patients within the first few days after stroke and comprise a continuum of cardiac changes ranging from acute myocardial injury and coronary syndromes to heart failure or arrhythmia. Recently, the term was introduced to provide an integrated conceptual framework that summarizes neurocardiogenic mechanisms that lead to these cardiac events after stroke.

Suspected immune checkpoint inhibitor-induced pulmonary sarcoid reaction in metastatic renal cell carcinoma.

We present the case of a 50-year-old male patient with metastatic clear cell renal cell carcinoma (mRCC) who developed a diffuse pulmonary opacification and lymphadenopathy during nivolumab maintenance therapy. This was diagnosed as presumed sarcoid granulomatous inflammatory reaction secondary to immunotherapy, which resolved with holding off therapy and the nivolumab was resumed.

Acetylcholinesterase inhibitors and risk of bleeding and acute ischemic events in non-hypertensive Alzheimer's patients.

Introduction: Acetylcholinesterase inhibitors (AChEIs) are commonly used to treat mild to moderate cases of Alzheimer disease (AD). To the best of our knowledge, there has been no study estimating the risk of bleeding and cardiovascular events in patients with non-hypertensive AD. Therefore, this study aimed to estimate the association between AChEIs and the risk of bleeding and cardiovascular ischemic events in patients with non-hypertensive AD.

"EMERGing" Electronic Health Record Data Metrics: Insights and Implications for Assessing Residents' Clinical Performance in Emergency Medicine.

Objectives: Competency-based medical education requires that residents are provided with frequent opportunities to demonstrate competence as well as receive effective feedback about their clinical performance. To meet this goal, we investigated how data collected by the electronic health record (EHR) might be used to assess emergency medicine (EM) residents' independent and interdependent clinical performance and how such information could be represented in an EM resident report card.

Methods: Following constructivist grounded theory methodology, individual semistructured interviews were conducted in 2017 with 10 EM faculty and 11 EM residents across all 5 postgraduate years.

CCCDTD5 recommendations on early and timely assessment of neurocognitive disorders using cognitive, behavioral, and functional scales.

Introduction: Earlier diagnosis of neurocognitive disorders and neurodegenerative disease is needed to implement preventative interventions, minimize harm, and reduce risk of exploitation in the context of undetected disease. Along the spectrum from subjective cognitive decline (SCD) to dementia, evidence continues to emerge with respect to detection, staging, and monitoring. Updates to previous guidelines are required for clinical practice.

High diagnostic yield of direct Sanger sequencing in the diagnosis of neuronal ceroid lipofuscinoses.

Background: Neuronal ceroid lipofuscinoses are neurodegenerative disorders. To investigate the diagnostic yield of direct Sanger sequencing of the genes, we reviewed Molecular Genetics Laboratory Database for molecular genetic test results of the genes from a single clinical molecular diagnostic laboratory.

Methods: We reviewed electronic patient charts.

Case report of granular acute lymphoblastic leukemia and review of the literature.

Granular acute lymphoblastic leukemia (ALL) is a rare variant of the disease that is associated with a lower remission rate to standard induction chemotherapy. Flow immunophenotyping, cytogenetics, and molecular diagnostics should be utilized to confirm the diagnosis of ALL versus acute myeloid leukemia (AML) in order to provide appropriate management.

Comparison of Simulation-based Resuscitation Performance Assessments With In-training Evaluation Reports in Emergency Medicine Residents: A Canadian Multicenter Study.

Objective: Simulation stands to serve an important role in modern competency-based programs of assessment in postgraduate medical education. Our objective was to compare the performance of individual emergency medicine (EM) residents in a simulation-based resuscitation objective structured clinical examination (OSCE) using the Queen's Simulation Assessment Tool (QSAT), with portfolio assessment of clinical encounters using a modified in-training evaluation report (ITER) to understand in greater detail the inferences that may be drawn from a simulation-based OSCE assessment.

Methods: A prospective observational study was employed to explore the use of a multicenter simulation-based OSCE for evaluation of resuscitation competence.

Niacin promotes revascularization and recovery of limb function in diet-induced obese mice with peripheral ischemia.

Niacin can reduce vascular disease risk in individuals with metabolic syndrome, but in light of recent large randomized controlled trials outcomes, its biological actions and clinical utility remain controversial. Niacin can improve endothelial function, vascular inflammation, and vascular regeneration, independent of correcting dyslipidemia, in various lean rodent models of vascular injury. Here, we tested whether niacin could directly improve endothelial cell angiogenic function during combined exposure to excess fatty acids and hypoxia, and whether intervention with niacin during continued feeding of western diet could improve revascularization and functional recovery in obese, hyperlipidemic mice with peripheral ischemia.