The Complete Inpatient Record Using Comprehensive Electronic Data (CIRCE) project: A team-based approach to clinically validated, research-ready electronic health record data.

Introduction: The rapid adoption of electronic health record (EHR) systems has resulted in extensive archives of data relevant to clinical research, hospital operations, and the development of learning health systems. However, EHR data are not frequently available, cleaned, standardized, validated, and ready for use by stakeholders. We describe an in-progress effort to overcome these challenges with cooperative, systematic data extraction and validation.

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.

Fabry disease is an X-linked lysosomal disease caused by variants in the gene. Although Fabry disease is X-linked, gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X-linked recessive disease. A family is presented here with a 36-year-old female who is symptomatic with chronic kidney disease and her oligosymptomatic 70-year-old father, both of whom have a heterozygous and hemizygous GLA pathogenic variant, respectively, c.

Liver Transplant From a Deceased Donor With Cystinosis: A Case Report.

Many inherited metabolic disorders (IMD) are associated with end-organ damage necessitating organ transplantation. Although utilization of deceased donors with history of IMD warrants caution, there may be circumstances under which such donors could be considered as suitable organ donor candidates. We present the first known report of liver transplantation from a deceased donor with cystinosis.

Fluorescent identification of axons, dendrites and soma of neuronal retinal ganglion cells with a genetic marker as a tool for facilitating the study of neurodegeneration.

This study characterizes a fluorescent -tdTomato neuronal reporter mouse line with strong labeling of axons throughout the optic nerve, of retinal ganglion cell (RGC) soma in the ganglion cell layer (GCL), and of RGC dendrites in the inner plexiform layer (IPL). The model facilitated assessment of RGC loss in models of degeneration and of RGC detection in mixed neural/glial cultures. The tdTomato signal showed strong overlap with >98% cells immunolabeled with RGC markers RBPMS or BRN3A, consistent with the ubiquitous presence of the vesicular glutamate transporter 2 (VGUT2, SLC17A6) in all RGC subtypes.

Biotène Versus HydraSmile for Radiation-Induced Xerostomia: Randomized Double-Blind Cross-Over Study.

Objective: This study aims to compare the effectiveness of 2 artificial saliva substitutes (Biotène vs HydraSmile) in the symptomatic management of radiation-induced xerostomia.

Study Design: Randomized double-blind cross-over study.

Setting: Single tertiary care academic institution.

Application of the revised criteria for diagnosis and staging of Alzheimer's disease: Drug development and clinical practice.

Unlabelled: The newly proposed revised criteria for diagnosis and staging of Alzheimer's disease (AD) by the Alzheimer's Association (AA) Workgroup represent a significant milestone in the field. These criteria offer objective measures for diagnosing and staging biological AD, bridging the gap between research and clinical care. Although implementation feasibility may vary across regions and settings, improving the availability and accuracy of biomarkers, especially plasma biomarkers, is expected to enhance the applicability of these criteria in clinical practice.

Feasibility, validity, and normative data for the remote Uniform Data Set neuropsychological battery at the University of Pennsylvania Alzheimer's Disease Research Center.

Introduction: We investigated the feasibility and validity of the remotely-administered neuropsychological battery from the National Alzheimer's Coordinating Center Uniform Data Set (UDS T-Cog).

Methods: Two hundred twenty Penn Alzheimer's Disease Research Center participants with unimpaired cognition, mild cognitive impairment, and dementia completed the T-Cog during their annual UDS evaluation. We assessed administration feasibility and diagnostic group differences cross-sectionally across telephone versus videoconference modalities, and compared T-Cog to prior in-person UDS scores longitudinally.

The Group-basEd Telehealth behavioral WEight Loss Program Among Breast Cancer Survivors: A Pilot and Feasibility Study.

Objective: Obesity is related to the recurrence of breast cancer. In-person groups or individual telephone counseling currently comprise the behavioral weight loss (BWL) programs tested for cancer survivors. Group support via telehealth may be convenient and provide support from fellow survivors, but feasibility, acceptability, and efficacy testing are needed.

Bleeding risk from nonsteroidal anti-inflammatory drugs after functional endoscopic sinus surgery: Analysis of the TriNetX database.

Objectives: Postoperative pain medications and aspirin before undergoing functional endoscopic sinus surgery (FESS) are managed carefully due to concern for bleeding. Little is known regarding the increase in the risk of bleeding for patients unable to stop aspirin as trials are limited in this area. We compared outcomes for patients undergoing FESS who were managed postoperatively with nonsteroidal anti-inflammatory drugs (NSAIDs) versus opioids.

Comorbidity profiles and pulmonary embolism risk assessment: Leveraging the Charlson Comorbidity Index for improved prognostication in a national data set.

Current risk assessment of pulmonary embolism (PE) stratifies patients based on hemodynamic stability, clinical parameters of severity, right ventricular dysfunction and cardiac injury but fails to integrate a wide variety of comorbid conditions. The Charlson Comorbidity Index (CCI) predicts mortality based on patients' diseases and provides a system to quantify disease burden. The National Inpatient Sample (NIS) database (2016-2018) was used to identify patients with PE and calculate CCI score groups of 0, 1-2, 3-5, and ≥6 and stratify them by outcome.

Genotypic variation in resource exchange, use, and production traits in the legume-rhizobia mutualism.

Mutualisms, reciprocally beneficial interactions between two or more species, are ubiquitous in nature. A common feature of mutualisms is extensive context-dependent variation in fitness outcomes. This context-dependency is hypothesized to stem from the environment's mediation of the relative costs and benefits associated with mutualisms.

General emergency physician perceptions of caring for children: A qualitative interview study.

Background: Emergency physicians care for most children presenting to U.S. emergency departments (EDs).

Surgical resection and overall survival in cT4b sinonasal non-squamous cell carcinoma.

Objective: Surgical resection is associated with higher overall survival (OS) than definitive radiotherapy (RT) or chemoradiotherapy (CRT) in cT4b sinonasal squamous cell carcinoma (SCC). Our study investigates the survival benefit of surgical resection in cT4b sinonasal non-SCC.

Methods: The 2004 to 2019 National Cancer Database was queried for patients with cT4b sinonasal non-SCC undergoing definitive treatment with (1) surgical resection + additional therapy (RT, chemotherapy, or both), (2) RT alone, or (3) CRT.

Liver transplant recipients have worse metabolic body phenotype compared with matched non-transplant controls.

Background And Aim: Quantification of body compartments, particularly the interaction between adipose tissue and skeletal muscle, is emerging as novel a biomarker of metabolic health. The present study evaluated the impact of liver transplant (LT) on body compartments.

Methods: Totally 66 adult LT recipients were enrolled in whom body compartments including visceral adipose tissue (VAT), abdominal subcutaneous adipose tissue (ASAT), muscle fat infiltration (MFI), fat-free muscle volume (FFMV), and liver fat (LF) were quantified via whole body magnetic resonance imaging (MRI).

Development of a multisensor biologging collar and analytical techniques to describe high-resolution spatial behavior in free-ranging terrestrial mammals.

Biologging has proven to be a powerful approach to investigate diverse questions related to movement ecology across a range of spatiotemporal scales and increasingly relies on multidisciplinary expertise. However, the variety of animal-borne equipment, coupled with little consensus regarding analytical approaches to interpret large, complex data sets presents challenges and makes comparison between studies and study species difficult. Here, we present a combined hardware and analytical approach for standardizing the collection, analysis, and interpretation of multisensor biologging data.

Primary site surgical resection in cM1 oral cavity squamous cell carcinoma.

Objective: To investigate primary site surgical resection and overall survival (OS) in clinically distantly metastatic (cM1) oral cavity squamous cell carcinoma (OCSCC).

Methods: The 2006-2018 National Cancer Database was queried for patients presenting with cM1 OCSCC who underwent chemotherapy. Binary logistic, Kaplan-Meier, and multivariable Cox proportional hazards regression models were implemented.

Isolated traumatic orbital floor fracture: An analysis of the National Trauma Data Bank.

Objectives: To date, no study provides a comprehensive analysis of traumatic orbital floor fractures across the United States. We aimed to characterize patient demographics, injury-related variables, and operative management in this population.

Method: The National Trauma Data Bank was queried for open or closed orbital floor fractures from 2008 to 2016.

Type and morphology affect the success rate of bronchoscopy for postintubation tracheal stenosis.

Objective: With advancements in respiratory interventional techniques, bronchoscopic intervention technology has emerged as a viable approach for managing postintubation tracheal stenosis (PITS). However, there was a paucity of research investigating the potential impact of stenosis characteristics and morphology (such as stenosis degree, length, type, and morphology) on bronchoscopic intervention treatment prognosis for PITS patients. This study was to assess the impact of various preoperative stenosis characteristic factors on the bronchoscopic cure rate among patients.

Celiac disease in North America: What is the current practice of pediatric gastroenterology providers?

Objectives: While guidelines exist for the diagnosis and management of pediatric celiac disease (CeD), current practices in North America are not well-described. This study aimed to explore current practice patterns to identify gaps and direct future clinical, training and research initiatives.

Methods: A 23-item survey designed by the Celiac Disease Special Interest Group was distributed electronically to its members.

In-hospital outcomes among amyloidosis patients with atrial fibrillation: A propensity score-matched analysis.

Background: The impact of atrial fibrillation (AF) among patients with amyloidosis on in-hospital outcomes is not well-established. We aimed to examine in-hospital outcomes among patients admitted with a primary diagnosis of AF with and without amyloidosis.

Methods And Results: We queried the Nationwide Readmissions Database to compare the in-hospital outcomes among AF patients with and without amyloidosis.

Biological effects of sodium phenylbutyrate and taurursodiol in Alzheimer's disease.

Introduction: Sodium phenylbutyrate and taurursodiol (PB and TURSO) is hypothesized to mitigate endoplasmic reticulum stress and mitochondrial dysfunction, two of many mechanisms implicated in Alzheimer's disease (AD) pathophysiology.

Methods: The first-in-indication phase 2a PEGASUS trial was designed to gain insight into PB and TURSO effects on mechanistic targets of engagement and disease biology in AD. The primary clinical efficacy outcome was a global statistical test combining three endpoints relevant to disease trajectory (cognition [Mild/Moderate Alzheimer's Disease Composite Score], function [Functional Activities Questionnaire], and total hippocampal volume on magnetic resonance imaging).

Speech markers of depression dimensions across cognitive status.

Introduction: Depression and its components significantly impact dementia prediction and severity, necessitating reliable objective measures for quantification.

Methods: We investigated associations between emotion-based speech measures (valence, arousal, and dominance) during picture descriptions and depression dimensions derived from the geriatric depression scale (GDS, dysphoria, withdrawal-apathy-vigor (WAV), anxiety, hopelessness, and subjective memory complaint).

Results: Higher WAV was associated with more negative valence (estimate = -0.

Characteristic Pressure Waveforms Can Distinguish Airway Collapse Patterns in Sleep Apnea Patients: A Pilot Study.

Objective: To use pharyngeal pressure recordings to distinguish different upper airway collapse patterns in obstructive sleep apnea (OSA) patients, and to assess whether these pressure recordings correlate with candidacy assessment for hypoglossal nerve stimulator (HGNS) implantation.

Study Design: Prospective case series.

Setting: Single tertiary-quaternary care academic center.