SLC37A3-associated retinitis pigmentosa: a case report of clinical features and three-year follow up.

Purpose: To describe a case of SLC37A3-associated retinitis pigmentosa (RP) and associated imaging and electroretinography findings.

Methods: The patient was evaluated at Columbia University Irving Medical Center using a comprehensive multimodal imaging protocol that included color fundus photography, fundus autofluorescence (FAF), and spectral-domain optical coherence tomography. Functional assessments were conducted using full-field electroretinography (ERG), following the ISCEV standard protocols to ensure consistent and reproducible measurements of photoreceptor activity.

Comparison of Nanopore with Illumina Whole Genome Assemblies of the Epstein-Barr Virus in Burkitt Lymphoma.

Endemic Burkitt lymphoma (eBL) is one of the most prevalent cancer in children in sub-Saharan Africa, and while prior studies have found that Epstein-Barr virus (EBV) type and variation may alter the tumor driver genes necessary for tumor survival, the precise relationship between EBV variation and EBV-associated tumorigenesis remains unclear due to lack of scalable, cost-effective, viral whole-genome sequencing from tumor samples. This study introduces a rapid and cost-effective method of enriching, sequencing, and assembling accurate EBV genomes in BL tumor cell lines through a combination of selective whole genome amplification (sWGA) and subsequent 2-tube multiplex polymerase chain reaction along with long-read sequencing with a portable sequencer. The method was optimized across a range of parameters to yield a high percentage of EBV reads and sufficient coverage across the EBV genome except for large repeat regions.

Incorporation of Epstein-Barr viral variation implicates significance of Latent Membrane Protein 1 in survival prediction and prognostic subgrouping in Burkitt lymphoma.

Although Epstein-Barr virus (EBV) plays a role in Burkitt lymphoma (BL) tumorigenesis, it is unclear if EBV genetic variation impacts clinical outcomes. From 130 publicly available whole-genome tumor sequences of EBV-positive BL patients, we used least absolute shrinkage and selection operator (LASSO) regression and Bayesian variable selection models within a Cox proportional hazards framework to select the top EBV variants, putative driver genes, and clinical features associated with patient survival time. These features were incorporated into survival prediction and prognostic subgrouping models.

An Innovative Place-Based, Neighborhood-Level Approach to Address Health Disparities in Medically Underserved Areas of Memphis, TN.

Little data demonstrates the feasibility of place-based, neighborhood-level care delivered by health coaches in medically underserved neighborhoods to expand access to essential primary care and address health disparities. This concurrent mixed-methods pilot study describes experience with the innovative Neighborhood Health Hub Program in Memphis, TN. Patient characteristics, including body mass index (BMI), blood glucose, blood pressure, and service utilization, were assessed.

Polymerase chain reaction for early identification of bacteria causing pneumonia in ventilated surgical and trauma patients.

Introduction: Ventilator-associated pneumonia occurs in 20% to 25% of intubated trauma patients, and early effective antibiotic treatment decreases morbidity and mortality. We sought to determine the sensitivity and specificity of multiplex polymerase chain reaction amplification of bacterial DNA (Biofire FilmArray Pneumonia Panel [BFPP]) obtained during fiberoptic bronchoscopy in predicting the causative bacteria the day of bronchoalveolar lavage (BAL).

Methods: This diagnostic accuracy study compared results of BAL with quantitative culture and BFPP testing on all intubated trauma and surgery patients suspected of developing pneumonia.