Genomic sequencing in diverse and underserved pediatric populations: parent perspectives on understanding, uncertainty, psychosocial impact, and personal utility of results.

Purpose: Limited evidence evaluates parents' perceptions of their child's clinical genomic sequencing (GS) results, particularly among individuals from medically underserved groups. Five Clinical Sequencing Evidence-Generating Research (CSER) consortium studies performed GS in children with suspected genetic conditions with high proportions of individuals from underserved groups to address this evidence gap.

Methods: Parents completed surveys of perceived understanding, personal utility, and test-related distress after GS result disclosure.

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.

Activating the cGAS-STING Pathway by Manganese-Based Nanoparticles Combined with Platinum-Based Nanoparticles for Enhanced Ovarian Cancer Immunotherapy.

Recent research has demonstrated that activating the cGAS-STING pathway can enhance interferon production and the activation of T cells. A manganese complex, called TPA-Mn, was developed in this context. The reactive oxygen species (ROS)-sensitive nanoparticles (NPMn) loaded with TPA-Mn are developed.

Characteristics of Resection Parameters in Robot-Assisted Total Knee Arthroplasty With the Ligament Balancing Workflow.

Objective: Robotic-assisted total knee arthroplasty (TKA) is a novel orthopedic technique. The workflow of robotic-assisted TKA is quite different from that of traditional manual TKA and may result incompletely different resection parameters. Understanding these parameters may help surgeons better perform robotic-assisted TKA.

Circulating Tumor HPV-DNA in the Management of HPV-Positive Oropharyngeal Carcinoma: A Systematic Review.

Purpose: Blood-borne, cell-free DNA has been proposed as a means of individualizing the management of human papillomavirus (HPV)-positive oropharyngeal carcinoma.

Methods And Materials: This study was designed based on the Preferred Reporting Items for Systematic Review and Meta-Analysis Protocols (PRISMA-P) statement. A comprehensive literature search of peer-reviewed publications from January 2013 to January 2024 was undertaken to identify prospective studies pertaining to the use of circulating HPV-DNA for oropharyngeal carcinoma.

Pelvic Radiotherapy in Rectal Cancer Patients With Synchronous Potentially Treatable Liver Metastases.

Background: The optimal management strategy for Stage IV rectal cancer with potentially treatable liver metastases remains controversial, particularly regarding the role of pelvic radiotherapy (RT).

Aims: We intend to investigate the impact of pelvic RT on oncological outcomes of rectal cancer with potentially treatable liver metastasis.

Methods And Results: This retrospective study included 83 patients diagnosed with rectal cancer and synchronous liver metastases from June 2012 to January 2022.

Increasing Contraception Documentation in an Academic Rheumatology Clinic: A Quality Improvement Approach.

Objective: This quality improvement initiative aimed to increase the rate of provider screening and documentation of contraception use for reproductive-aged women seen in an academic rheumatology fellows' clinic to >50% by 24 weeks, with sustained improvement at one year.

Methods: With a multidisciplinary team, we devised and implemented six interventional cycles over 24 weeks informed by key stakeholder survey responses. The primary outcome measure was the percentage of eligible visits with contraception information documented in the structured electronic health record field.

Innovative telehospitalist model optimizes medical triage in collaboration with community emergency departments: A cross-sectional study.

Introduction: Optimal hospital bed utilization requires innovative patient care models. We studied a novel hospitalist model utilizing telemedicine to facilitate collaboration with affiliated emergency departments (EDs) and support medical triage and care of ED patients with high likelihood of hospital admission.

Methods: Telehospitalists based at a tertiary care facility collaborated with four community EDs in the same healthcare network between January 1, 2022, and April 30, 2023.

Dementia and epilepsy without traumatic brain injury among subjects middle-aged females: a population-based case-control study.

Although the association between dementia such as Alzheimer's disease and traumatic brain injury (TBI) is well established, there are significant knowledge gaps with respect to the perspective of dementia and epilepsy without TBI. We aimed to investigate the relationship between dementia and epilepsy in a population-based study of patients without history of TBI. This study included a random sample of 30,715 patients with no history of TBI, including 6143 with epilepsy as the study cohort and 24,572 without epilepsy as the comparison cohort.

Lateral Atrial Expression Patterns Provide Insights into Local Transcription Disequilibrium Contributing to Disease Susceptibility.

Background: Transcriptional dysregulation, possibly affected by genetic variation, contributes to disease development. Due to dissimilarities in development, function, and remodeling during disease progression, transcriptional differences between the left atrial (LA) and right atrial (RA) may provide insight into diseases such as atrial fibrillation.

Methods: Lateral differences in atrial transcription were evaluated in CATCH ME (Characterizing Atrial fibrillation by Translating its Causes into Health Modifiers in the Elderly) using a 2-stage discovery and replication design.

Structural and Functional Characterization of the Aorta in Hypertrophic Obstructive Cardiomyopathy.

Background: Changes in the phenotype and genotype in hypertrophic cardiomyopathy (HCM) are thought to involve the myocardium as well as extracardiac tissues. Here, we describe the structural and functional changes in the ascending aorta of obstructive patients with HCM.

Methods: Changes in the aortic wall were studied in a cohort of 101 consecutive patients with HCM undergoing myectomy and 9 normal controls.

NEDD4-Mediated GSNOR Degradation Aggravates Cardiac Hypertrophy and Dysfunction.

Background: The decrease in S-nitrosoglutathione reductase (GSNOR) leads to an elevation of S-nitrosylation, thereby exacerbating the progression of cardiomyopathy in response to hemodynamic stress. However, the mechanisms under GSNOR decrease remain unclear. Here, we identify NEDD4 (neuronal precursor cell expressed developmentally downregulated 4) as a novel molecule that plays a crucial role in the pathogenesis of pressure overload-induced cardiac hypertrophy, by modulating GSNOR levels, thereby demonstrating significant therapeutic potential.

Artificial intelligence and machine learning capabilities in the detection of acute scaphoid fracture: a critical review.

This paper discusses the current literature surrounding the potential use of artificial intelligence and machine learning models in the diagnosis of acute obvious and occult scaphoid fractures. Current studies have notable methodological flaws and are at high risk of bias, precluding meaningful comparisons with clinician performance (the current reference standard). Specific areas should be addressed in future studies to help advance the meaningful and clinical use of artificial intelligence for radiograph interpretation.

Classification and characteristics of bacterial glycosaminoglycan lyases, and their therapeutic and experimental applications.

Glycosaminoglycans (GAGs), as animal polysaccharides, are linked to proteins to form various types of proteoglycans. Bacterial GAG lyases are not only essential enzymes that spoilage bacteria use for the degradation of GAGs, but also valuable tools for investigating the biological function and potential therapeutic applications of GAGs. The ongoing discovery and characterization of novel GAG lyases has identified an increasing number of lyases suitable for functional studies and other applications involving GAGs, which include oligosaccharide sequencing, detection and removal of specific glycan chains, clinical drug development and the design of novel biomaterials and sensors, some of which have not yet been comprehensively summarized.

Differential Risk Profiles of Incident Abdominal Aortic Aneurysms in Specific Subgroups: A Large Cohort-based Study.

Objective: The aim of this study is to explore the risk profiles associated with Abdominal aortic aneurysm (AAA) incidence in both the general population and diverse subpopulations.

Summary Background Data: AAA is a life-threatening arterial disease, and there is limited understanding of its etiological spectrum across the age, sex, and genetic risk subgroups, making early prevention efforts more complicated.

Methods: This study encompassed a sample size of 364399 participants from the UK.

MicroRNA Expression in High-Grade B-Cell Lymphoma With 11q Aberration.

Mature aggressive B-cell lymphomas, such as Burkitt lymphoma (BL) and Diffuse large B-cell lymphoma (DLBCL), show variations in microRNA (miRNA) expression. The entity of High-grade B-cell lymphoma with 11q aberration (HGBCL-11q) shares several biological features with both BL and DLBCL but data on its miRNA expression profile are yet scarce. Hence, this study aims to analyze the potential differences in miRNA expression of HGBCL-11q compared to BL and DLBCL.

Bioorthogonal reaction-mediated photosensitizer-peptide conjugate anchoring on cell membranes for enhanced photodynamic therapy.

Photodynamic therapy (PDT), utilizing a photosensitizer (PS) to induce tumor cell death, is an effective modality for cancer treatment. PS-peptide conjugates have recently demonstrated remarkable antitumor potential in preclinical trials. However, the limited cell membrane binding affinity and rapid systemic clearance have hindered their transition to clinical applications.

Patient-Reported Fatigue Associated with Joint Histopathology in Rheumatoid Arthritis.

Objective: Fatigue is important for patients with rheumatoid arthritis (RA) but is poorly understood. We sought to study associations of fatigue with clinical features, disease activity, and synovial histology.

Methods: Patients meeting the American College of Rheumatology/EULAR 1987 and/or 2010 RA criteria were recruited before elective total joint replacement.

Pseudomonal Vasculopathy of the Central Nervous System in a 2-Year-Old Female With an IRAK4-Related Immunodeficiency.

, a gram-negative bacillus, has varied clinical manifestations with septicemia as the most lethal. PA infection is usually regarded as opportunistic and often nosocomial. We present a case of a "healthy" pediatric patient presenting with upper respiratory symptoms who rapidly deteriorated.

Reductive Adjuvant Nanosystem for Alleviated Atopic Dermatitis Syndromes.

Atopic dermatitis (AD) is a recurrent and chronic inflammatory skin condition characterized by a high lifetime prevalence and significant impairment of patients' quality of life, primarily due to intense itching and discomfort. However, current pharmacological interventions provide only moderate efficacy and are frequently accompanied by adverse side effects. The immune-pathogenesis of AD involves dysregulation of the Th2 immune response and exacerbation of inflammation related to excessive reactive oxygen species (ROS).

Enhancing West African family medicine curriculum through entrustable professional activities.

The training of Family Medicine residents in the West Africa College of Physicians (WACP) has steadily upscaled to a competency-based approach over the years. The latest review of the curriculum (2022) includes self-directed online modules on clinical postings, health management, patient safety, quality assurance research and medical education among others. The operationalisation of the revised curriculum involves the use of workplace-based tools for formative assessments.

An audit of completeness of Road to Health Booklet at a community health centre in South Africa.

Background:  For continuity and quality of care, accurate record-keeping is crucial. Complete care is facilitated by completing a child's Road to Health Booklet (RTHB) as well as prompt interpretation and appropriate action. This could result in a decrease in child morbidity and mortality.

Effects of supplementation of macular pigment carotenoids on ocular health: a Raman spectroscopic study of human blood serum of glaucoma patients.

Carotenoids are known for their antioxidant and vision protection roles, with dietary supplements often promoted for eye health. An initial trial, the European Nutrition in Glaucoma Management (ENIGMA), assessed macular pigment optical density (MPOD) and other ocular parameters before and after supplementing glaucoma patients with macular pigment (MP) carotenoids. The trial confirmed significant improvements in clinical ocular health.

Association between alkaline phosphatase levels and mortality in Chinese patients with colorectal cancer with liver metastases: a retrospective cohort study.

Background: Alkaline phosphatase (ALP) is a potential cancer biomarker. However, its prognostic value in patients with colorectal liver metastasis remains unclear.

Objectives: This study aimed to investigate the association between ALP levels and mortality risk in patients with colorectal liver metastases (CRLM), providing insights for enhancing prognostic assessments.

Performance of Chat Generative Pre-trained Transformer-4o in the Adult Clinical Cardiology Self-Assessment Program.

Aims: This study evaluates the performance of OpenAI's latest large language model (LLM), Chat Generative Pre-trained Transformer-4o, on the Adult Clinical Cardiology Self-Assessment Program (ACCSAP).

Methods And Results: Chat Generative Pre-trained Transformer-4o was tested on 639 ACCSAP questions, excluding 45 questions containing video clips, resulting in 594 questions for analysis. The questions included a mix of text-based and static image-based [electrocardiogram (ECG), angiogram, computed tomography (CT) scan, and echocardiogram] formats.