EEFSEC deficiency: A selenopathy with early-onset neurodegeneration.

Inborn errors of selenoprotein expression arise from deleterious variants in genes encoding selenoproteins or selenoprotein biosynthetic factors, some of which are associated with neurodegenerative disorders. This study shows that bi-allelic selenocysteine tRNA-specific eukaryotic elongation factor (EEFSEC) variants cause selenoprotein deficiency, leading to progressive neurodegeneration. EEFSEC deficiency, an autosomal recessive disorder, manifests with global developmental delay, progressive spasticity, ataxia, and seizures.

Parental and family presence are essential: A qualitative study of children's lived experiences with family presence in pediatric intensive care.

Objective: To better understand critically ill children's lived experiences with family presence in the pediatric intensive care unit (PICU).

Study Design: This qualitative, interpretive phenomenological study is grounded in a Childhood Ethics ontology. We recruited children (aged 6-17 years) admitted to one of four participating Canadian PICUs between November 2021-July 2022 using maximum variation sampling.

Age-related disparities in national maternal mortality trends: A population-based study.

Objective: An upward trend in maternal age has been observed in the United States (US) over the last twenty years. The study objective was to examine the association of maternal age with maternal mortality in the US and examine temporal trends in mortality by maternal age.

Methods: A retrospective population-based analysis in the US between 2000-2019 was conducted using records from the Centers for Disease Control and Prevention's "Mortality Multiple Cause" and "Birth Data" files.

Basic Science and Pathogenesis.

Background: Inflammation is central to Alzheimer Disease (AD), as astrocyte reactivity accompanies the appearance of Aβ and phosphorylated tau (Bellaver et al., 2023). As expected, therefore, AD patients have elevated levels of CSF inflammatory cytokines (Onyango et al.

Clinical Manifestations.

Background: Adherence to treatment guidelines for agitation in dementia is suboptimal and inconsistent. We designed an Integrated Care Pathway (ICP) that standardized behavioral and pharmacological interventions for agitation in dementia, and evaluated it against treatment-as-usual (TAU). The two primary hypotheses were that, compared to TAU, the ICP would result in (1) lower agitation and (2) lower rates of polypharmacy at study end.

Global, regional, and national burden of primary liver cancer attributable to metabolic risks: an analysis of the Global Burden of Disease Study 1990-2021.

Background: The global burden of metabolic diseases is increasing, but estimates of their impact on primary liver cancer are uncertain. We aimed to assess the global burden of primary liver cancer attributable to metabolic risk factors, including high body mass index (BMI) and high fasting plasma glucose (FPG) levels, between 1990 and 2021.

Methods: The total number and age-standardized rates of deaths and disability-adjusted life years (DALYs) from primary liver cancer attributable to each metabolic risk factor were extracted from the Global Burden of Disease Study 1990-2021.

Promoting gender diversity and ergonomic equity in the cardiac surgery operating room.

Purpose Of Review: The operating room (OR) infrastructure and equipment such as gloves, were historically designed at a time when most surgeons were male. Today, there are increasing numbers of females in the OR and we should ensure that there is not a disproportionate risk of ergonomic stress and risk of work-related injuries. This review provides a perspective on the representation of female cardiac surgeons globally and examines the unique ergonomic challenges they may face.

Psychological well-being of rural left-behind women in Northwest China and its associated factors: a regional, population-based study.

Purpose: Growing awareness has highlighted the challenging living condition faced by rural left-behind women (RLW), yet their psychological well-being has not been fully investigated. This study aims to investigate the psychological well-being of RLW in Northwest China and exploring its associated factors.

Samples And Methods: A total of 697 RLW from five provincial regions were enrolled.

The use of patient-generated health data in the management of low anterior resection syndrome: a qualitative study.

Background: The cornerstone of low anterior resection syndrome (LARS) treatment is self-management, which requires patient engagement. Colorectal surgeons and nurses may use patient-generated health data (PGHD) to help guide patients in their use of self-management strategies for LARS. However, the perspectives of LARS experts on the use of PGHD remain largely unexplored.

Attention-guided convolutional network for bias-mitigated and interpretable oral lesion classification.

Accurate diagnosis of oral lesions, early indicators of oral cancer, is a complex clinical challenge. Recent advances in deep learning have demonstrated potential in supporting clinical decisions. This paper introduces a deep learning model for classifying oral lesions, focusing on accuracy, interpretability, and reducing dataset bias.

Longitudinal network changes and phenoconversion risk in isolated REM sleep behavior disorder.

Isolated rapid eye movement sleep behavior disorder is a prodrome of α-synucleinopathies. Using positron emission tomography, we assessed changes in Parkinson's disease-related motor and cognitive metabolic networks and caudate/putamen dopaminergic input in a 4-year longitudinal imaging study of 13 male subjects with this disorder. We also correlated times to phenoconversion with baseline network expression in an independent validation sample.

Clinical presentations and complications of lichen sclerosus: A systematic review.

Lichen sclerosus (LS) is a chronic, inflammatory dermatosis most commonly characterized by changes in skin pigmentation and pruritus, with associated dyspareunia and genital architectural changes. There are a variety of complications associated with LS, which further worsen a patient's health-related quality of life. A systematic review was conducted to summarize the literature regarding clinical features of LS, as well as LS-associated complications.

Use of advanced topic modeling to generate domains for a preference-based index in osteoarthritis.

Background: Health-related quality of life (HRQL) is an important endpoint when evaluating the effectiveness of interventions in people living with hip and knee osteoarthritis (OA). The aim of this study was to generate domains for a new OA-specific preference-based index of HRQL in people living with hip or knee OA.

Methods: The proposed HRQL index was based on a formative measurement model.

Temporal changes of spinal microglia in murine models of neuropathic pain: a scoping review.

Neuropathic pain (NP) is an ineffectively treated, debilitating chronic pain disorder that is associated with maladaptive changes in the central nervous system, particularly in the spinal cord. Murine models of NP looking at the mechanisms underlying these changes suggest an important role of microglia, the resident immune cells of the central nervous system, in various stages of disease progression. However, given the number of different NP models and the resource limitations that come with tracking longitudinal changes in NP animals, many studies fail to truly recapitulate the patterns that exist between pain conditions and temporal microglial changes.

Bias in machine learning applications to address non-communicable diseases at a population-level: a scoping review.

Background: Machine learning (ML) is increasingly used in population and public health to support epidemiological studies, surveillance, and evaluation. Our objective was to conduct a scoping review to identify studies that use ML in population health, with a focus on its use in non-communicable diseases (NCDs). We also examine potential algorithmic biases in model design, training, and implementation, as well as efforts to mitigate these biases.

Simplified Approach to Managing Newly Diagnosed Patients with Mild-to-Moderate Hypertension in Routine Clinical Practice.

Introduction: The aim of the observational SIMPLE study was to assess real-life effectiveness and safety of a single-pill combination (SPC) of perindopril arginine/amlodipine in a broad range of subjects with newly diagnosed mild-to-moderate hypertension treated in Canadian general practice.

Methods: Treatment-naïve participants aged 18-65 years with mild-to-moderate hypertension, whose physicians decided to initiate the perindopril/amlodipine SPC, were recruited from Canadian clinical practice from October 2017 to February 2019. Participants were followed at 3- (M3) and 6-month (M6) visits after treatment initiation.

Urban environment during pregnancy, cognitive abilities, motor function, and externalizing and internalizing symptoms at 2-5 years old in 3 Canadian birth cohorts.

Background: More than 80% of the Canadian population lives in urban settings. Urban areas usually bring exposure to poorer air quality, less access to green spaces, and higher building density. These environmental factors may endanger child development.

Evaluation and Comparison of the Comprehensiveness of Canadian and American Ophthalmology Residency Program Websites.

Purpose: We descriptively and comparatively evaluated the comprehensiveness of Canadian and US-accredited ophthalmology residency program websites as of August 28, 2024.

Methods: Using Canadian Resident Matching Service ( = 15) and US Fellowship and Residency Electronic Interactive Database ( = 125), we assessed website content across seven criteria: recruitment, faculty, residents, education/research, teaching, benefits, and community. Two independent reviewers used a 40-point system, with Kruskal-Wallis and post-hoc pairwise tests for analysis by country and funding model.

Investigating Skin Cancer Risk and Sun Safety Practices Among LGBTQ+ Communities in Canada.

Background: Skin cancer prevention relies on effective sun safety practices. Previous studies have shown that LGBTQ+ individuals exhibit lower sunscreen use and higher tanning bed usage compared to their non-LGBTQ+ counterparts. This study is the first to assess skin cancer risk factors, sun-protective behaviors, and skin cancer concerns among LGBTQ+ individuals across Canada.

The Role of Stereotactic Body Radiotherapy in Oligometastatic Non-Small Cell Lung Cancer.

Non-small cell lung cancer (NSCLC) is a major cause of mortality in Canada, with many patients presenting with metastatic disease. The oligometastatic state (OM-NSCLC) may be amenable to cure using aggressive local consolidative therapies. Stereotactic body radiotherapy (SBRT), which entails the utilization of a high dose of radiation in one or few fractions, has many benefits in this setting, including its applicability in varied patient populations to ablate lesions in varied anatomical locations.