Selective metabolic regulations by p53 mutant variants in pancreatic cancer.

Background: Approximately half of all human cancers harbour mutations in the p53 gene, leading to the generation of neomorphic p53 mutant proteins. These mutants can exert gain-of-function (GOF) effects, potentially promoting tumour progression. However, the clinical significance of p53 GOF mutations, as well as the selectivity of individual variants, remains controversial and unclear.

Characterizing Performance on a Suite of English-Language NeuroUX Mobile Cognitive Tests in a US Adult Sample: Ecological Momentary Cognitive Testing Study.

Background: Mobile cognitive testing is growing in popularity, with numerous advantages over traditional cognitive testing; however, the field lacks studies that deeply examine mobile cognitive test data from general adult samples.

Objective: This study characterized performance for a suite of 8 mobile cognitive tests from the NeuroUX platform in a sample of US adults across the adult lifespan.

Methods: Overall, 393 participants completed 8 NeuroUX cognitive tests and a brief ecological momentary assessment survey once per day on their smartphones for 10 consecutive days; each test was administered 5 times over the testing period.

OCT Changes Observed during the Progression of Early Age-Related Macular Degeneration.

Purpose: Automated retinal cell layer segmentation empowers OCT as a precise tool for characterizing morphologic features of retinal health throughout age-related macular degeneration (AMD) progression, particularly in advance of more visible biomarkers such as drusen and macular pigmentary changes. Few studies have examined OCT changes in eyes progressing from early to intermediate disease, or combined examinations of cell layer thickness, reflectivity, and heterogeneity. Therefore, this study analyzed OCTs from eyes progressing from early to intermediate AMD to identify changes in retinal morphology and reflectivity that may serve as biomarkers of early progression.

Mortality in a Clostridium sordellii Case Series.

Introduction: Clostridium sordellii (C sordellii) is a gram positive, anaerobic bacterium that causes severe, often fatal infections. Classically, C sordellii infection is described as a high mortality process for women of childbearing age. We examined C sordellii infections in our hospital to determine if there have been any changes in prevalence, treatment, or outcome.

Anatomic maps of erogenous and aversive sensation zones of the breasts, vulva, and vagina: a questionnaire-based study.

Background: Erogenous sensation zones (ESZs) elicit sexual pleasure upon stimulation. General ESZ maps exist, but they do not assess internal areas of the body, differentiate between individual structures, or quantify the importance of individual ESZs to sexual pleasure. Maps of aversive sensation zones (ASZs), or bodily areas individuals dislike having touched during sex, have not been described.

Machine Learning in Vascular Medicine: Optimizing Clinical Strategies for Peripheral Artery Disease.

Purpose Of Review: Peripheral Artery Disease (PAD), a condition affecting millions of patients, is often underdiagnosed due to a lack of symptoms in the early stages and management can be complex given differences in genetic and phenotypic characteristics. This review aims to provide readers with an update on the utility of machine learning (ML) in the management of PAD.

Recent Findings: Recent research leveraging electronic health record (EHR) data and ML algorithms have demonstrated significant advances in the potential use of automated systems, namely artificial intelligence (AI), to accurately identify patients who might benefit from further PAD screening.

Frequency of supervised consumption service use and acute care utilization in people who inject drugs.

Background: Supervised consumption service (SCS) use among people who inject drugs may reduce acute care utilization; however, prior studies have been limited by self-reported outcomes and dichotomous exposures.

Methods: We conducted a prospective cohort study using linked questionnaire and health administrative data among people who inject drugs in Toronto, Canada (2018-2020). Baseline SCS use frequency was defined by a participant's self-reported proportion of injections performed at an SCS over the past six months: "all/most" (≥75 %), "some" (26-74 %), "few" (1-25 %), or "none" (0 %).

A cross sectional analysis of residents by race/ethnicity and specialty from 2020-2023.

Background: Minorities are underrepresented in all areas of medical education relative to the United States general population, and minority physicians are more likely to practice in disadvantaged areas and in primary care settings. Many individual and structural factors contribute to this discrepancy. We aimed to demonstrate how resident race/ethnicity representation differs across the various resident specialties.

Clinicopathologic Features of Oral Verrucous Carcinoma: A Systematic Review and Meta-Analysis.

Objective: To further characterize the clinicopathologic features of oral verrucous carcinoma.

Methods: In accordance with PRISMA guidelines, a systematic review of the Medline, Web of Science, Embase, and Cochrane databases was performed in search of articles evaluating clinicopathologic features of oral verrucous carcinoma. Primary outcomes of interest included tumor subsites, T-staging, rates of cervical lymph node metastases, rates of distant metastases, 5-year survival (overall, disease-free, or disease-specific), and recurrence rates.

Kaposiform Hemangioendothelioma With Features of Congenital Hemangioma Treated With Sirolimus.

Kaposiform hemangioendothelioma (KHE) is a vascular neoplasm characterized by abnormal angiogenesis and lymphangiogenesis. Here, we present a case of a 19-month-old male with KHE of the right leg with bony involvement who was initially misdiagnosed with infantile hemangioma. Due to its heterogeneous presentation and frequent occurrence of comorbidities such as Kasabach-Merritt phenomenon, clinical and pathological correlation is essential for diagnosis of KHE.

Impact of Fractional Ablative Laser Therapy on Function, Symptoms, and Quality of Life in the Management of Traumatic Scars: A Review.

Objectives: A substantial and expanding body of literature addresses the safety and efficacy of fractional ablative laser therapy for traumatic scarring resulting from burns and other trauma. However, available scar research commonly employs standardized assessment scales that generally do not directly address the impact on function and overall quality of life. Unlike past reviews, this manuscript will explore available evidence with a focus explicitly on function and quality of life (QoL) outcomes and de-emphasize surrogate outcome measures that rely primarily on visual characteristics.

Late gadolinium enhancement on cardiac MRI: A systematic review and meta-analysis of prognosis across cardiomyopathies.

Background: Late gadolinium enhancement (LGE) on cardiac MRI has been shown to predict adverse outcomes in a range of cardiac diseases. However, no study has systematically reviewed and analyzed the literature across all cardiac pathologies including rare diseases.

Methods: PubMed, EMBASE and Web of Science were searched for studies evaluating the relationship between LGE burden and cardiovascular outcomes.

Neighborhood Socioeconomic Disadvantage Increases Risk of Severe Acute Respiratory Syndrome Coronavirus 2-Mediated Otologic Dysfunction.

Objectives: We aim to use the Area Deprivation Index (ADI) to investigate the correlations between neighborhood socioeconomic disadvantage (NSD), SARS-CoV-2 vaccination rates, infection severity, and subsequent audiovestibular symptoms.

Methods: In this retrospective cohort study, surveys were administered to participants ≥18 years of age who received a SARS-CoV-2 vaccination and/or tested positive for SARS-CoV-2 infection between January 2020 and September 2022. ADI scores were calculated for each patient to quantify NSD.

Scoping it Out: The Use of Laparoscopy After Penetrating Trauma in Stable Children.

Introduction: In stable children with penetrating abdominal trauma, literature regarding the use of laparoscopy (LAP) remains limited. Given increasing evidence in favor of LAP for selective adult trauma patients, we reviewed contemporary practices and outcomes in pediatric trauma patients.

Methods: The American College of Surgeons (ACS) Trauma Quality Programs data was utilized to identify children (<18 years) from 2016 to 2021 with a penetrating abdominal injury who underwent surgery within 24 h of admission.

Role of cholesterol in modulating brain hyperexcitability.

Cholesterol is a critical molecule in the central nervous system, and imbalances in the synthesis and metabolism of brain cholesterol can result in a range of pathologies, including those related to hyperexcitability. The impact of cholesterol on disorders of epilepsy and developmental and epileptic encephalopathies is an area of growing interest. Cholesterol cannot cross the blood-brain barrier, and thus the brain synthesizes and metabolizes its own pool of cholesterol.

Oncogenic Alterations, Race, and Survival in US Veterans with Metastatic Prostate Cancer Undergoing Somatic Tumor Next Generation Sequencing.

Purpose: National guidelines recommend next generation sequencing (NGS) of tumors in patients diagnosed with metastatic prostate cancer (mPCa) to identify potential actionable alterations. We sought to describe the spectrum and frequency of alterations in PCa-related genes and pathways, as well as associations with self-identified race/ethnicity, and overall survival in US Veterans.

Patients And Methods: This retrospective cohort study included Non-Hispanic Black (NHB) and Non-Hispanic white (NHW) Veterans with mPCa who obtained NGS through the Veterans Affairs National Precision Oncology Program.

Continuous peripheral nerve blocks for burn management: a retrospective study of outcomes and complications in 281 burn patients.

Background: There is scarce literature regarding the use of continuous peripheral nerve blocks in acute burn patients, who may be at higher risk for catheter-related complications, including infection. We sought to describe our center's experience and infection rate with continuous perineural catheters in the setting of pain management for patients suffering from burns.

Methods: A retrospective observational study was performed including all patients admitted to an American Burn Association-verified regional burn center between January 2018 and July 2023 who received a continuous peripheral nerve block for an acute burn injury.

Monoallelic loss-of-function variants in GSK3B lead to autism and developmental delay.

De novo variants adjacent to the canonical splicing sites or in the well-defined splicing-related regions are more likely to impair splicing but remain under-investigated in autism spectrum disorder (ASD). By analyzing large, recent ASD genome sequencing cohorts, we find a significant burden of de novo potential splicing-disrupting variants (PSDVs) in 5048 probands compared to 4090 unaffected siblings. We identified 55 genes with recurrent de novo PSDVs that were highly intolerant to variation.

Preferences of parents from diverse backgrounds on genomic screening of apparently healthy newborns.

Genomic sequencing has been proposed as a strategy to expand newborn screening. Perspectives on genomic newborn screening from parents of diverse racial, ethnic, and socioeconomic backgrounds are needed to shape equitable implementation of this modality. We conducted 20 semi-structured interviews (15 English, 5 Spanish) and seven focus groups (4 English, 3 Spanish) with parents from diverse backgrounds to assess their perspectives regarding which disorders and variants might be screened, data privacy, and barriers to pursuing specialized care.

Dengue virus surveillance in Nepal yields the first on-site whole genome sequences of isolates from the 2022 outbreak.

Background: The 4 serotypes of dengue virus (DENV1-4) can each cause potentially deadly dengue disease, and are spreading globally from tropical and subtropical areas to more temperate ones. Nepal provides a microcosm of this global phenomenon, having met each of these grim benchmarks. To better understand DENV transmission dynamics and spread into new areas, we chose to study dengue in Nepal and, in so doing, to build the onsite infrastructure needed to manage future, larger studies.