Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Cigarette smoking is associated with reduced neuroinflammation and better cognitive control in people living with HIV.

People living with HIV (HIV+) are roughly twice as likely to smoke cigarettes (Smok+) as the general population. With the advent of effective antiretroviral therapies, it is increasingly important to understand the effects of chronic HIV infection and cigarette smoking on brain function and cognition since HIV+ individuals have heightened neuroinflammation and cognitive deficits even with such therapies. Based on prior studies demonstrating that smoking reduces a marker for neuroinflammation in HIV- individuals, we hypothesized that HIV+/Smok+ individuals would have less neuroinflammation and better cognitive control than HIV+/Smok- individuals.

Parental separation following preterm delivery in Canada: a population-based cohort study.

Objective: To examine the association between preterm delivery and parental separation and identify associated risk factors.

Methods: All opposite sex, married or common-law parents whose relationship status was available at index delivery and for the next 5 years were eligible in this retrospective population-based cohort study in Manitoba, Canada. Parents of children born preterm were matched 1:5 to parents of children born full-term.

Scoping review of social workers' professional roles in primary care.

Objectives: Maximising social workers' contributions to primary care requires clarity about their scope of practice in this context. This scoping review sought to clarify what is known about social work's scope of practice in primary care settings.

Design: A scoping review design guided by the five-stage scoping review framework developed by Arksey and O'Malley and the updated JBI Manual for Evidence Synthesis.

Identification of a T2-hyperintense Perivascular Space in Brain Arteriovenous Malformations.

Background/aim: Brain arteriovenous malformations (AVMs) are vascular malformations characterized by dysmorphic, aberrant vasculature. During previous surgeries of compact nidus brain AVMs (representing the majority of cases), we have observed a "shiny" plane between nidal and perinidal AVM vessels and the surrounding grey and white matter and hypothesized that preoperative neuroimaging of brain AVMs may show a neuroradiological correlate of these intraoperative observations.

Patients And Methods: We retrospectively reviewed and analyzed multiplanar and multisequence 3-Tesla magnetic resonance (3T MR) imaging in five consecutive brain AVMs with special attention on imaging characteristics of the brain-AVM interface, i.

The mechanisms of electrical neuromodulation.

The central and peripheral nervous systems are specialized to conduct electrical currents that underlie behaviour. When this multidimensional electrical system is disrupted by degeneration, damage, or disuse, externally applied electrical currents may act to modulate neural structures and provide therapeutic benefit. The administration of electrical stimulation can exert precise and multi-faceted effects at cellular, circuit and systems levels to restore or enhance the functionality of the central nervous system by providing an access route to target specific cells, fibres of passage, neurotransmitter systems, and/or afferent/efferent communication to enable positive changes in behaviour.

Meningiomas in Rubinstein-Taybi syndrome: A case report and comprehensive review.

Rubinstein-Taybi syndrome (RTS) is a congenital disorder with characteristic clinical manifestations. In the vast majority of cases, it is caused by mutations of the gene encoding the transcriptional co-activator cAMP-response element binding protein (CBP)-binding protein (CREBBP). It has been thought to be a tumor predisposition syndrome as RTS patients have an increased risk of developing tumors including meningiomas.

Meta-regression of optic nerve imaging and visual outcome in myelin oligodendrocyte glycoprotein antibody optic neuritis.

Background: Few predictors of visual outcome after myelin oligodendrocyte glycoprotein (MOG) auto-antibody disease optic neuritis (ON) have been reliably elucidated. We evaluate whether between-study differences in ON neuroimaging regional enhancement features may underlie heterogeneity in reported visual prognosis.

Methods: PROSPERO (CRD42024580123).

Identifying predictors of sodium-glucose cotransporter 2 inhibitor and glucagon-like peptide 1 receptor agonist use in hospital among adults with diabetes.

Aims: To identify factors associated with use of novel diabetes medications among patients hospitalized under general internal medicine.

Methods: We conducted a cohort study of patients with type 2 diabetes mellitus (T2DM) hospitalized in Ontario, Canada between 2015 and 2020. We evaluated the patient- and physician-level factors associated with sodium-glucose cotransporter 2 inhibitor (SGLT2) and glucagon-like peptide 1 receptor agonist (GLP1R) use using a multivariable logistic regression model.

Beliefs and attitudes about men's alcohol-related sexual harassment and aggression (BAMASHA): Development and initial validation of a new scale.

Background: Men's perpetration of sexual violence (SV) toward women in drinking venues is a pervasive yet understudied phenomenon with significant downstream consequences for women. Although men's negative attitudes and beliefs toward women play an important role in SV, current attitude measures are limited in that they do not focus on SV specific to drinking contexts, thereby precluding understandings of SV in this context. As such, we developed and evaluated a measure of beliefs and attitudes about men's alcohol-related sexual harassment and aggression (BAMASHA) toward women in drinking venues to better understand this ubiquitous problem.

Pure Mg Cathode for Highly Efficient Single-Layer Organic Light-Emitting Diodes.

Highly efficient single-layer organic light-emitting diodes (OLEDs) are demonstrated by using a pure Mg cathode that is seeded with a small amount of Ag nucleation sites. Bis(4-phenylthieno[3,2-]pyridinato-,C2')(acetylacetonate)iridium(III) (PO-01)-doped devices with three-, two-, and one-region doping configurations exhibit maximum external quantum efficiency (EQE) values of 22.8%, 21.

Complete Lifestyle Medicine Intervention Program-Ontario: Implementation Protocol for a Rural Study.

Background: Sedentary lifestyles, poor nutritional choices, inadequate sleep, risky substance use, limited social connections, and high stress contribute to the growing prevalence of chronic diseases. Lifestyle medicine, emphasizing therapeutic lifestyle changes for prevention and treatment, has demonstrated effectiveness but remains underutilized in clinical settings. The Complete Lifestyle Medicine Intervention Program-Ontario (CLIP-ON) was developed to educate the rural population of Northern Ontario in lifestyle medicine to improve health outcomes and engagement.

Spread and Scale of the Integrated Nutrition Pathway for Acute Care Across Canada: Protocol for the Advancing Malnutrition Care Program.

Background: A high proportion of patients admitted to hospital are at nutritional risk or have malnutrition. However, this risk is often not identified at admission, which may result in longer hospital stays and increased likelihood of death. The Integrated Nutrition Pathway for Acute Care (INPAC) was developed to provide clinicians with a standardized approach to prevent, detect, and treat malnutrition in hospital.

Investigating the Links Between Food Addiction, Emotional Dysregulation, Impulsivity and Quality of Life in Brazilian and Canadian College Students: A Network Analysis.

Introduction: Food addiction (FA) has been associated with emotional dysregulation, impulsivity and reduced quality of life, but its interrelationships remain underexplored. This cross-sectional descriptive study aimed to examine these connections using network analysis.

Methods: Data were collected from 1777 university students in Brazil and Canada through an online survey.

A Five-Year Prospective, Randomized, Open-Label Study of Standard-Dose Versus Low-Dose Prolonged-Release Tacrolimus With or Without Angiotensin-Converting Enzyme Inhibitor or Angiotensin II Receptor Blocker Post Kidney Transplantation.

Introduction: Novel approaches to improve long-term outcomes in kidney transplant recipients are required. Here, we present the 5-year data from a multicenter, prospective, Phase 3b trial evaluating treatment outcomes with standard (STD) or low (LOW) dose prolonged-release tacrolimus (TAC) combined with ACEi/ARB or other antihypertensive therapy (OAHT) in Canadian kidney transplant recipients.

Methods: Adult de novo kidney transplant recipients were randomized 2 × 2 to STD or LOW dose TAC and ACEi/ARB or OAHT.

Predefined and data-driven CT radiomics predict recurrence-free and overall survival in patients with pulmonary metastases treated with stereotactic body radiotherapy.

Background: This retrospective study explores two radiomics methods combined with other clinical variables for predicting recurrence free survival (RFS) and overall survival (OS) in patients with pulmonary metastases treated with stereotactic body radiotherapy (SBRT).

Methods: 111 patients with 163 metastases treated with SBRT were included with a median follow-up time of 927 days. First-order radiomic features were extracted using two methods: 2D CT texture analysis (CTTA) using TexRAD software, and a data-driven technique: functional principal components analysis (FPCA) using segmented tumoral and peri-tumoural 3D regions.

How have Ontario Public Health units engaged with faith-based organizations to build confidence in COVID-19 vaccines among ethno-racial communities.

In Ontario, collaborations between Public Health Units (PHUs) and faith-based organizations (FBOs) and other community organizations were implemented to deliver interventions aimed at building trust in vaccines among ethnoracial communities. This research sought to explore the processes of PHU engagement with FBOs, and challenges encountered. A qualitative research study based on in-depth interviews was conducted with 18 of the 34 Ontario PHUs who expressed an interest.

Updating the remembered position of targets following passive lateral translation.

Spatial updating, the ability to track the egocentric position of surrounding objects during self-motion, is fundamental to navigating around the world. However, people make systematic errors when updating the position of objects after linear self-motion. To determine the source of these errors, we measured errors in remembered target position with or without passive lateral translations.

mRNA decay pre-complex assembly drives timely cell-state transitions during differentiation.

Complexes that control mRNA stability and translation promote timely cell-state transitions during differentiation by ensuring appropriate expression patterns of key developmental regulators. The Drosophila RNA-binding protein brain tumor (Brat) promotes the degradation of target transcripts during the maternal-to-zygotic transition in syncytial embryos and uncommitted intermediate neural progenitors (immature INPs). We identify ubiquitin-specific protease 5 (Usp5) as a candidate Brat interactor essential for the degradation of Brat target mRNAs.

Psychosocial Correlates of Death Anxiety in Advanced Cancer: A Scoping Review.

Objectives: Individuals living with advanced cancer commonly experience death anxiety, which refers to the distressing thoughts or feelings associated with awareness of one's mortality. Deriving an overview of existing literature on the psychological and social factors linked to death anxiety may inform conceptual models, clinical screening, and intervention strategies in oncology and palliative care. Therefore, the present scoping review was conducted to summarize the current literature on the psychosocial correlates of death anxiety among individuals with advanced cancer.

Exome Sequencing in the Diagnostic Pathway for Suspected Rare Genetic Diseases: Does the Order of Testing Affect its Cost-Effectiveness?

Background: Patients with suspected rare diseases often experience lengthy and uncertain diagnostic pathways. This study aimed to estimate the cost-effectiveness of exome sequencing (ES) in different positions in the diagnostic pathway for patients suspected of having a rare genetic disease.

Methods: Data collected retrospectively from 305 patients suspected of having a rare genetic disease (RGD), who received clinical-grade ES and participated in the Canadian multicentre Care4Rare-SOLVE study, informed a discrete event simulation of the diagnostic pathway.

Leveraging domain knowledge for synthetic ultrasound image generation: a novel approach to rare disease AI detection.

Purpose: This study explores the use of deep generative models to create synthetic ultrasound images for the detection of hemarthrosis in hemophilia patients. Addressing the challenge of sparse datasets in rare disease diagnostics, the study aims to enhance AI model robustness and accuracy through the integration of domain knowledge into the synthetic image generation process.

Methods: The study employed two ultrasound datasets: a base dataset (Db) of knee recess distension images from non-hemophiliac patients and a target dataset (Dt) of hemarthrosis images from hemophiliac patients.

The association between neighbourhood marginalization and SARS-CoV-2 outcomes in patients presenting to emergency departments.

Objective: Social and economic marginalizations have been associated with inferior health outcomes in Canada. Our objective was to describe the relationship between neighbourhood marginalization and COVID-19 outcomes among patients presenting to Canadian emergency departments (ED).

Methods: We conducted an observational study among consecutive COVID-19 patients recruited from 47 hospitals participating in the Canadian COVID-19 ED Rapid Response Network (CCEDRRN) between March 3, 2020, and July 24, 2022.