DNA methylation levels may contribute to severe hypertriglyceridemia in multifactorial chylomicronemia syndrome.

Background And Aims: Familial chylomicronemia syndrome (FCS) and multifactorial chylomicronemia syndrome (MCS) are the two main causes of severe hypertriglyceridemia (sHTG). FCS is a rare autosomal recessive form of sHTG, whereas MCS is mainly polygenic in nature with both common and rare variants accumulating and leading to sHTG. However, 30 to 50% of MCS patients have no identified genetic cause of sHTG.

Tofacitinib Mitigates the Increased SARS-CoV-2 Infection Susceptibility Caused by an IBD Risk Variant in the PTPN2 Gene.

Background: Coronavirus disease (COVID-19), caused by SARS-CoV-2, triggered a global pandemic with severe medical and socioeconomic consequences. While fatality rates are higher among the elderly and those with underlying comorbidities, host factors that promote susceptibility to SARS-CoV-2 infection and severe disease are poorly understood. Although individuals with certain autoimmune/inflammatory disorders show increased susceptibility to viral infections, there is incomplete knowledge of SARS-CoV-2 susceptibility in these diseases.

The impact of body mass index on surgical complications in minimally invasive hysterectomy for uterine fibroids.

Research Question: We aimed to assess the impact of Body Mass Index (BMI) on 30-day postoperative complications in patients undergoing minimally invasive hysterectomy (MIH) for fibroids.

Design: Using data from the American College of Surgeons National Surgical Quality Improvement Program (NSQIP) database (2012-2020), we analyzed major and minor 30-day postoperative complications, stratified by BMI, in patients with uterine fibroids who underwent MIH. Complications were stratified according to the Clavien-Dindo classification.

Emergency department ophthalmoscopy: physician confidence and clinical practices.

Objectives: Fundoscopy is crucial in the emergency department to identify or rule out serious ocular and neurological conditions. Despite its clinical importance, fundoscopy is often omitted due to the technical challenges associated with traditional direct ophthalmoscopy, particularly for non-ophthalmologists. This study examines emergency physicians' practices, confidence levels, and training related to various modalities of fundoscopy including traditional direct ophthalmoscopes, binocular indirect ophthalmoscopes, panoptic ophthalmoscopes, slit lamp fundoscopy and fundus cameras; and explores the potential role of alternative modalities, such as fundus cameras, in Canadian emergency departments.

Machine learning models predicting risk of revision or secondary knee injury after anterior cruciate ligament reconstruction demonstrate variable discriminatory and accuracy performance: a systematic review.

Background: To summarize the statistical performance of machine learning in predicting revision, secondary knee injury, or reoperations following anterior cruciate ligament reconstruction (ACLR), and to provide a general overview of the statistical performance of these models.

Methods: Three online databases (PubMed, MEDLINE, EMBASE) were searched from database inception to February 6, 2024, to identify literature on the use of machine learning to predict revision, secondary knee injury (e.g.

Classes of outpatient quality of care among individuals with substance-related disorders, based on a survey and health insurance registry.

Objectives: Improving quality of care for individuals with substance-related disorders (SRD) should be a priority considering SRD are associated with high morbidity. This study aimed to identify classes of individuals with SRD based on their clinical characteristics and the quality of outpatient care they received, and to verify whether better quality of care was associated with other respondent characteristics and more favorable subsequent outcomes.

Methods: Data came from the 2013-14 and 2015-16 Canadian Community Health Survey (N = 42,099), merged with administrative data from Quebec's health insurance registry.

Exploring the challenges in manual wheelchair operation for new users.

This exploratory qualitative study examines the challenges faced by manual wheelchair (MWC) users and their clinicians, with a focus on mobility difficulties in both outdoor and indoor environments, as well as training priorities. The study involved semi-structured interviews with 18 clinicians and 25 MWC users from various rehabilitation centres. The interviews, lasting between 30 and 60 minutes, explored specific aspects of MWC use, including mobility challenges, training needs, and psychological factors.

The Emerging Role of Multimodality Imaging in the Diagnosis and Management of Post Pericardiotomy Syndrome.

Purpose Of Review: This review aims to evaluate current diagnostic and therapeutic strategies for postpericardiotomy syndrome (PPS), with a focus on the evolving role of multimodality imaging, including echocardiography, cardiac computed tomography (CCT), and cardiac magnetic resonance imaging (CMR). The review also explores the potential benefits of advanced imaging in improving the accuracy and management of PPS.

Recent Findings: PPS, a common complication following cardiac surgery, presents with pleuritic chest pain, fever, and pericardial or pleural effusion.

Facilitators and barriers affecting the implementation of e-health for chronic respiratory diseases in remote settings: a qualitative evidence synthesis.

Background: Chronic respiratory diseases are important causes of disability and mortality globally. Their incidence may be higher in remote locations where healthcare is limited and risk factors, such as smoking and indoor air pollution, are more prevalent. E-health could overcome some healthcare access obstacles in remote locations, but its utilisation has been limited.

ZIC1 is a context-dependent medulloblastoma driver in the rhombic lip.

Transcription factors are frequent cancer driver genes, exhibiting noted specificity based on the precise cell of origin. We demonstrate that ZIC1 exhibits loss-of-function (LOF) somatic events in group 4 (G4) medulloblastoma through recurrent point mutations, subchromosomal deletions and mono-allelic epigenetic repression (60% of G4 medulloblastoma). In contrast, highly similar SHH medulloblastoma exhibits distinct and diametrically opposed gain-of-function mutations and copy number gains (20% of SHH medulloblastoma).

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.

Processes and measurements: a framework for understanding neural oscillations in field potentials.

Various neuroscientific theories maintain that brain oscillations are important for neuronal computation, but opposing views claim that these macroscale dynamics are 'exhaust fumes' of more relevant processes. Here, we approach the question of whether oscillations are functional or epiphenomenal by distinguishing between measurements and processes, and by reviewing whether causal or inferentially useful links exist between field potentials, electric fields, and neurobiological events. We introduce a vocabulary for the role of brain signals and their underlying processes, demarcating oscillations as a distinct entity where both processes and measurements can exhibit periodicity.

Preferred labels and language to improve communication about lesions at low risk of progressing to cancer: qualitative interviews with patients and physicians.

Objectives: We explored how to improve communication about low-risk lesions including labels, language and other strategies.

Design: Qualitative description and thematic analysis to examine the transcripts of telephone interviews with patients who had low-risk lesions and physicians; and mapping to Communication Accommodation Theory to interpret themes.

Setting: Canada PARTICIPANTS: 15 patients: 6 (40%) bladder, 5 (33%) prostate and 4 (27%) cervix lesions; and 13 physicians: 7 (54%) cervix, 3 (23%) bladder and 3 (23%) prostate lesions.

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.

Disentangling Sources of Momentum Fluctuations in Xe+Xe and Pb+Pb Collisions with the ATLAS Detector.

High-energy nuclear collisions create a quark-gluon plasma, whose initial condition and subsequent expansion vary from event to event, impacting the distribution of the eventwise average transverse momentum [P([p_{T}])]. Disentangling the contributions from fluctuations in the nuclear overlap size (geometrical component) and other sources at a fixed size (intrinsic component) remains a challenge. This problem is addressed by measuring the mean, variance, and skewness of P([p_{T}]) in ^{208}Pb+^{208}Pb and ^{129}Xe+^{129}Xe collisions at sqrt[s_{NN}]=5.

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.

Optimizing Management of Febrile Young Infants Without Serum Procalcitonin.

Background: Febrile young infants are at risk of invasive bacterial infections (IBIs; bacteremia or bacterial meningitis). American Academy of Pediatrics (AAP) guidelines recommend that when procalcitonin testing is unavailable, C-reactive protein (CRP), absolute neutrophil count (ANC) and temperature should be used to identify low-risk infants. We sought to determine the optimal combination of these inflammatory markers to predict IBI when procalcitonin is unavailable.

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.

Commentary: Review of Mandatory Maintenance of Certification in the USA.

The goal of maintenance of certification (MOC) activities is to ensure physicians are up to date on current practices and demonstrate the knowledge and skills required to provide patients with optimal care. The program's aim is to promote professional development, lifelong learning and quality assurance for the public and medical community. However, physicians are not happy with the current structure of the program, claiming it to be time-consuming, expensive and ineffective for their practice.

(Epistemic) Injustice and Resistance in Canadian Research Ethics Governance.

This article brings a philosophical perspective to bear on issues of research ethics governance as it is practiced and organized in Canada. Insofar as the processes and procedures that constitute research oversight are meant to ensure the ethical conduct of research, they are based on ideas or beliefs about what ethical research entails and about which processes will ensure the ethical conduct of research. These ideas and beliefs make up an epistemic infrastructure underlying Canada's system of research ethics governance, but, we argue, extensive efforts by community members to fill gaps in that system suggest that these ideas may be deficient.

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.