Medicine and Health Sciences Commons^™

Auricular Point Acupressure Self-Management (Apa-Sm) Program For Chronic Musculoskeletal Pain Among Rural Populations: A Protocol For A Pragmatic, Randomized Controlled Trial, Jennifer Kawi, Jane Bolin, Hulin Wu, Jungkyung Min, Rupsikha Bora, Sarah Pace, Idara N Akpan, Alee Lockman, Tonychris Nnaka

Faculty, Staff and Student Publications

Introduction: Chronic musculoskeletal pain (CMP) is a leading cause of incurred personal healthcare costs and disability in the USA. It disproportionately affects rural populations, who are more likely to be uninsured, lack access to a regular healthcare provider and experience a higher prevalence of CMP. As a result of reduced access to non-pharmacological care, there is greater reliance on opioids. The Auricular Point Acupressure - Self-Management (APA-SM) program is a simple, needleless, evidence-based therapy that empowers individuals to self-manage their pain. Preliminary studies, including a recent UG3 pilot testing, demonstrated feasibility, safety and significant improvements in pain and function. Guided …

Outcomes In Single Versus Two-Stage Surgical Stabilization Of Complex Bilateral Chest Wall Injury: A Single-Center Experience., Alexis A Schweibinz, Jaya S Varre, Anna Graham, William B Devoe

Surgery Articles

INTRODUCTION: Surgical stabilization of rib fractures (SSRF) continues to show benefit for severe chest wall injury (CWI) with improvement in morbidity and mortality following stabilization. Complex bilateral injuries pose a clinical and technical challenge. Currently, there is no formal recommendation for an approach to repair such injuries, whether that be bilateral SSRF within the index case or staged repair. We sought to describe our institutional experience with this subset of patients, identify factors that may influence the decision to pursue single- versus two-stage procedures, and assess the potential benefit of combined bilateral SSRF during the index operation.

METHODS: A retrospective, …

Development And Preliminary Validation Of Orca-Pd, An Online Rapid Cognitive Assessment For Parkinson Disease: Mixed Methods Study, Avigail Lithwick Algon, Sarah Brisman, Chi-Ying R Lin, William Saban

Faculty, Staff and Students Publications

Background: Traditional in-person neuropsychological tests for Parkinson disease (PD) lack accessibility, scalability, and PD specificity. Mobility impairments hinder access to in-person assessments, and long waiting times for expert evaluation limit scalability. Common tools for cognitive screening, such as the Montreal Cognitive Assessment, are generic and not specific to PD.

Objective: The goal of this study was to address these challenges by leveraging the internet. This study aimed to develop a sensitive tool to detect cognitive impairments in early- to mid-stage PD in an accessible and scalable manner.

Methods: We developed the Online Rapid Cognitive Assessment for Parkinson's Disease (ORCA-PD), a …

Opposing Regulation By Rev1 Of Dna Polymerase Zeta Activity On Damaged Versus Undamaged Dna, Rachel Bezalel-Buch, Carrie Stith, Alena V Makarova, Sara K Binz, Peter M Burgers

2020-Current year OA Pubs

The Rev1 deoxycytidyl transferase functions as a scaffold protein for DNA polymerase ζ (Pol ζ)-mediated translesion synthesis (TLS). Biochemical studies with yeast enzymes indicate that Rev1 plays a dual regulatory role in TLS, stimulating Pol ζ activity at sites of damage but inhibiting its activity on undamaged DNA. An evolutionary conserved N-terminal alpha-helical motif (M1), located 10-20 amino acids upstream of Rev1's single BRCT domain, is required for the inhibitory activity of Rev1 on undamaged DNA. Mutations in the M1 motif result in a stimulation of Pol ζ replication activity on both undamaged and damaged DNA. Yeast cells carrying a …

Notch1 Acts As A Tumor Suppressor That Induces Early Differentiation In Head And Neck Cancer, Chenfei Huang, Shhyam Moorthy, Qiuli Li, Kazi M Ahmed, Kalil Saab, Defeng Deng, Jiping Wang, Xiayu Rao, Jiexin Zhang, Yuanxin Xi, Jing Wang, Zhiyi Liu, Noriaki Tanaka, David A Wheeler, Eve Shinbrot, Rami Saade, Curtis R Pickering, Tong-Xin Xie, Adel K El-Naggar, Abdullah A Osman, Kunal Rai, Patrick A Zweidler-Mckay, John V Heymach, Lauren A Byers, Faye M Johnson, Vlad C Sandulache, Jeffrey N Myers, Pedram Yadollahi, Mitchell J Frederick

Faculty, Staff and Students Publications

Inactivating NOTCH1 mutations in head and neck squamous cell carcinoma (HNSCC) were described over a decade ago, suggesting a tumor suppressor function - unlike its oncogenic role in other tumors. Today, much debate persists regarding a putative oncogenic role in HNSCC as well, with reports that NOTCH1 signaling drives tumor growth and a cancer stem cell (CSC) phenotype. In this work, comprehensive experiments unequivocally demonstrate that NOTCH1 is a tumor suppressor in HNSCC regardless of mutation or activation status and that it reduces CSC frequency. We developed a signature of NOTCH1 activation showing the pathway is associated with very early …

Structured Telehealth Community Health Worker-Clinician Feedback And Diabetes Outcomes: A Randomized Clinical Trial, Elizabeth M Vaughan, Xiaoying Yu, Amber B Amspoker, Aanand D Naik, Ashok Balasubramanyam, Craig A Johnston, Christi M Ballantyne, Salim S Virani, H Shelton Brown, Kristina Mena, Laura R Porterfield

Faculty, Staff and Students Publications

Importance: Community health workers (CHWs) improve chronic disease management in underserved populations, but scalable integration strategies are limited.

Objective: To evaluate whether a multidimensional intervention incorporating telementored CHWs and a structured participant-CHW-clinician feedback loop can improve diabetes outcomes.

Design, setting, and participants: This 12-month randomized clinical trial was conducted at 3 institutionally and geographically diverse community clinics in Texas between September 1, 2023, and April 30, 2025, and included low-income, uninsured White Hispanic adults with type 2 diabetes identified through clinic databases. Data were analyzed between May 1 and July 31, 2025.

Intervention: Individuals were randomized 1:1 to the intervention …

Norm Dust Intake: Comparison Of Personal Air Sampling And Bioassays, Gregory S. Hewson, Martin I. Ralph, Marcus Cattani

Research outputs 2022 to 2026

Intake of naturally occurring radioactive materials (NORM), particularly the inhalation of thorium-bearing dust in mineral sand operations, has traditionally been assessed via personal air sampling (PAS). However, data from bioassay studies suggest that the actual intake determined via PAS may be underestimated. This review integrates thorium intake estimates derived from historical bioassay datasets, such as urine, faeces, lung counting, and thoron-in-breath tests, with historical PAS data. The findings indicated that bioassay-based predictions of intake were consistently greater, with mean bioassay-to-PAS intake ratios ranging from 2.6 to 4.2. The contributing factors to this discrepancy include biokinetic model uncertainties, potential dust sampler …

Seizure-Induced Resolution Of Depressive And Psychotic Symptoms In A Pregnant Patient: A Case Of Spontaneous Neuromodulation, Ariel E. Sosa Gomez, Ryan M. Go, David Valdez

School of Medicine Publications

Many individuals with epilepsy often develop major depressive disorder (MDD), creating a complex interplay that exacerbates outcomes for affected individuals. The relationship between these disorders may be mediated by overlapping neurobiological mechanisms, including disturbances in the limbic system, neurotransmitter imbalances, and the psychosocial stressors of chronic illness. While the co-occurrence typically leads to a worsening of symptoms, rare instances have been reported in which seizure activity appears to ameliorate psychiatric symptomatology. We present the case of a 23-year-old pregnant Hispanic female with a longstanding history of treatment-resistant depression with psychotic features and epilepsy, who demonstrated full remission of depressive and …

Gene × Sex Interactions On Cognition In The Philadelphia Neurodevelopmental Cohort, Josephine Mollon, Emma M. Knowles, Samuel R. Mathias, Amanda Rodrigue, Ruben C. Gur, Juan M. Peralta, Daniel J. Weiner, Elise B. Robinson, Armin Raznahan, Raquel E. Gur, John Blangero, Laura Almasy, David C. Glahn

School of Medicine Publications

Background: Small differences between females and males in cognitive abilities have been consistently reported, but the factors underlying these sex differences remain unclear. Social and cultural factors are thought to play a key role, but studies on this topic have been inconclusive. Examination of genetic factors may shed some light on the mechanisms underlying cognitive sex differences.

Methods: Using data from the Philadelphia Neurodevelopmental Cohort, a large, general population sample of individuals aged 8 to 21 years old (N = 4,694), we tested for sex differences in the genetic factors (i.e., Gene × Sex interactions) underlying cognitive ability. Participants completed …

Otologic Manifestations Of Temporomandibular Disorders, Fatemeh Ebrahimi, Ali Akbar, Vivian Jin, Vivian F Kaul, Craig B Pearl

Faculty, Staff and Student Publications

Background/Objectives: Temporomandibular disorder (TMD) affects a third of the adult population and has been associated with otologic symptoms. These symptoms are frequently misattributed to primary otologic diseases, leading to delays in diagnosis and treatment. This review aims to summarize the reported prevalence, proposed pathophysiologic mechanisms, and management strategies of otologic manifestations in patients with TMD.

Methods: A literature review was conducted using the MeSH terms "temporomandibular joint disease" and "otologic symptoms." Five additional searches were performed using "temporomandibular disease/dysfunction" combined with each of the five most common otologic symptoms. Meta-analyses, randomized controlled trials, reviews, and systematic reviews were …

Behavioural Activation For The Prevention Of Poststroke Depression In Low-Income Older Stroke Survivors (Live Wel): Protocol For A Randomised Controlled Trial, Jennifer E S Beauchamp, Sean I Savitz, Anjail Sharrief, Belinda M Reininger, Ronald Acierno, Robert Suchting, Jason Burnett, Lauren Rosales, Jenan Ahmed Albaqali, Rinitha Rajan, Namkee G Choi

Faculty, Staff and Student Publications

Introduction: Poststroke depression (PSD) affects approximately 33% of stroke survivors and is associated with worse outcomes, poor quality of life (QOL) and mortality. Despite its prevalence and consequences, there is no consensus on the most effective strategy for PSD prevention. Behavioural activation (BA) is an effective intervention for depression across diverse populations and is considered safer, better tolerated and a longer-lasting alternative to antidepressant medications. This study aims to test the effectiveness of a remotely delivered BA intervention to prevent PSD (Tele-BA-S).

Methods and analysis: We will conduct a randomised effectiveness trial of 350 low-income adults (≥ 55 years) within …

Heat Stroke Encephalopathy Without The Presence Of Distinct Imaging Findings: Case Report And Review Of Literature, Ryan Sholes, David J. Walz, Julia S. Evans, Tessa Connelly, Joseph Rigotti

Abington Jefferson Health Papers

Heat stroke is a life-threatening emergency characterized by severe hyperthermia and acute central nervous system (CNS) dysfunction. We describe a 72-year-old man who was found unresponsive in his vehicle on a day with ambient temperatures exceeding 90°F. On arrival, his core temperature was 105.8°F, and Glasgow Coma Scale (GCS) score was 5. Despite prompt initiation of active cooling and supportive care with normalization of body temperature, the patient developed persistent and fluctuating encephalopathy. Extensive metabolic, infectious, and toxicologic evaluations were unrevealing. Thyroid-stimulating hormone was normal, arterial blood gases showed no acid-base derangements, ammonia and liver function tests were within normal …

Virtual Patient-Specific 3-Dimensional Specimen Maps For Adjuvant Radiation Therapy Planning In Mucosal Head And Neck Squamous Cell Carcinoma, Whitney Jin, Michael C. Topf, Marina Aweeda, Kavita Prasad, Olivia Prosak, Sindhura Sridhar, Zachary Kohutek, Sean All, D. W. Nathan Kim, Anthony Cmelak, Ryan Whitaker, Alexander Langerman, Kyle Mannion, Melanie Hicks, Sarah Rohde, Robert Sinard, Eben Rosenthal, Natalie A. Lockney

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

PURPOSE: Adjuvant radiation therapy planning for mucosal head and neck squamous cell carcinoma is challenging due to postoperative anatomic changes, contributing to variability in clinical target volume (CTV) delineation and risk of geographic miss or unnecessary dose expansion. Patient-specific 3-dimensional (3D) specimen maps may offer a novel approach to improve the localization of high-risk margins and facilitate multidisciplinary communication.

METHODS AND MATERIALS: In this prospective, noninterventional feasibility study, 3D scanning and virtual pathologic mapping of surgical specimens were performed as part of routine pathologic processing. Annotated 3D maps were integrated into the radiation therapy planning workflow and reviewed by the …

Multidomain Expert Evaluation Of Leading Large Language Models As Providers Of Vaccination And Preventive Medicine Information, Marcello Di Pumpo, Leonardo Villani, Vittorio Maio, Maria Rosaria Gualano, Eleonora Marziali, Lucia De Maio, Rossella Mancini, Stefania Boccia, Walter Ricciardi, Patrizia Laurenti

College of Population Health Faculty Papers

OBJECTIVES: Vaccination is one of the most effective public health interventions. Large language models (LLMs) show great capability for providing health information. This study compared the performance of ChatGPT 3.5 (G3E), ChatGPT 4o in English (G4E), Claude 3.0 (CDE), Gemini 1.5 (GME), and ChatGPT 4o in Italian (G4I) in delivering information on vaccination and preventive medicine.

STUDY DESIGN: Mixed-method analysis evaluating large language models.

METHODS: Twenty-six expert-designed healthcare scenarios were used to evaluate each model through an adapted DISCERN-based instrument. Four experts independently rated outputs across six domains: Information Reliability, Information Quality, Medical Appropriateness, Impact on Vaccine Hesitancy, Potential for …

Patterns Of Language And Visuospatial Lateralisation In Three-Year-Old Children, Josephine E. Quin-Conroy, Donna M. Bayliss, Stephanie J. Bovell, Debra Eamer, Georgina H.M. Earl, Simon E. Fisher, Clyde Francks, Murray T. Maybery, Sarah Pillar, Desiree Silva, Andrew J.O. Whitehouse, Nicholas A. Badcock

Research outputs 2022 to 2026

Little is known about how or when language and visuospatial processing lateralise in the brain, and if individual differences in lateralisation are related to early language or visuospatial abilities. We explored if patterns of language and visuospatial lateralisation are related to cognitive skills in young children. A large sample of 3-year-olds (n = 136) attempted two functional transcranial Doppler ultrasound (fTCD) tasks to estimate language and visuospatial lateralisation. At the group level, language was lateralised to the left hemisphere, but visuospatial processing was weakly lateralised to the right hemisphere. The relationship between patterns of lateralisation and cognitive skills was investigated …

Decoding Growth Hormone Actions On Human Growth Plate Stem Cells, Shion Orikasa, Noriaki Ono

Faculty, Staff and Student Publications

The epiphyseal growth plate is the key target of growth hormone (GH) therapy. Although growth plate stem cells are well defined in mice, their presence in humans was unclear. Using rare surgical specimens, the study by Chu et al. reveals conserved, GH-responsive stem cells in the human pubertal growth plate.

Narrative Discourse Predictors Of Response To Naming Intervention In Aphasia, Dirk B. Den Ouden, Laura Giglio, Sigfus Kristinsson, Leonardo Bonilha, Deena Schwen Blackett, Brielle C. Stark, Janina Wilmskoetter, Julius Fridriksson

Communication Sciences and Disorders Faculty Articles and Research

Purpose:

Method:

Why Are Some Children Under 24 Months Still Undernourished In Urban And Peri-Urban Vientiane? A Mixed-Methods Study, Kethmany Ratsavong, Dirk Essink, Pamela J. Wright Phd, Ms, Med, Rn, Cen, Somphou Sayasone, Sengchanh Kounnavong, Jacqueline E. Broerse

Publications

Child undernutrition remains a significant public health challenge in many low and middle-income countries (LMICs), including Lao PDR, where high levels persist even in urban areas with generally available and accessible food. This study aimed to explore factors underlying the persistently high rates of undernutrition among young children in urban (Saysetha) and peri-urban (Pakgneum) districts of the Vientiane Capital in Lao PDR. A cross-sectional survey employed a sequential explanatory mixed-methods approach, combining a structured questionnaire of 333 mother-child pairs for quantitative analysis with semi-structured interviews of 47 caregivers for qualitative insights. The prevalence of malnutrition among children under 24 months …

Disease-Causing Mfn2 Mutants Impair Mitochondrial Fission Dynamics By Distinct Drp1 Dysregulation, Daniel Lagos, Pamela R. De Santiago, Nicolás Pérez-Bravo, Benjamín Cartes-Saavedra, Josefa Vial-Brizzi, Diego Troncoso-Chandía, Oliver Podmanicky, Rita Horvath, Verónica Eisner

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Mitochondria undergo fusion and fission. While DRP1 regulates fission, fusion is controlled by OPA1, MFN1, and MFN2. The balance between these processes and the crosstalk between machineries remains poorly understood. MFN2 mutations cause Charcot-Marie-Tooth disease type 2 A (CMT2A), affecting mitochondrial fusion and morphology. However, their role in fission is unclear. Using skin fibroblasts from CMT2A patients (L248H and M376V MFN2 mutations) and wild-type mouse embryonic fibroblasts expressing these variants, we studied how MFN2 mutations impact mitochondrial dynamics beyond fusion. We analyzed mitochondrial morphology and dynamics by live-cell confocal microscopy and tested fusion/fission protein levels, oxygen consumption rate (OCR), extracellular …

Recommendations For Disclosure Of Artificial Intelligence In Scientific Writing And Publishing: A Regional Anesthesia And Pain Medicine Modified Delphi Study, Michael R Fettiplace, Anuj Bhatia, Yian Chen, Steven L Orebaugh, Michael Gofeld, Rodney A Gabriel, Daniel I Sessler, Hannah Lonsdale, Brittani Bungart, Christopher P Cheng, Garrett W Burnett, Lichy Han, Matthew Wiles, Steve Coppens, Thomas Joseph, Kristin L Schreiber, Thomas Volk, Richard D Urman, Vesela P Kovacheva, Christopher L Wu, Edward R Mariano, Vivian H Y Ip

Faculty, Staff and Student Publications

Introduction: The use of artificial intelligence (AI) in the scientific process is advancing at a remarkable speed, thanks to continued innovations in large language models. While AI provides widespread benefits, including editing for fluency and clarity, it also has drawbacks, including fabricated content, perpetuation of bias, and lack of accountability. The editorial board of Regional Anesthesia & Pain Medicine (RAPM) therefore sought to develop best practices for AI usage and disclosure.

Methods: A steering committee from the American Society of Regional Anesthesia and Pain Medicine used a modified Delphi process to address definitions, disclosure requirements, authorship standards, and editorial oversight …

Monoclonal Antibodies Targeting Pcdh7 Inhibit Tumor Growth And Enhance Immune Responses In Kras-Mutant Non-Small Cell Lung Cancer, Nicole Novaresi, Poorva Ghosh, Shayna Thomas-Jardin, Hui Deng, Xuejun Fan, Zhiqiang Ku, Wei Xiong, Xiaorong Zhou, Jingfei Zhu, Huiyu Li, Mahesh S Padanad, Bethany Smith, Chul Ahn, John D Minna, Zhiqiang An, Ningyan Zhang, Kathryn A O'Donnell

The Brown Foundation: Institute of Molecular Medicine

We identified an important oncogenic role for protocadherin 7 (PCDH7), a cell surface protein frequently overexpressed in lung adenocarcinoma and associated with poor clinical outcome. Pcdh7 depletion reduces tumor burden and prolongs survival in KrasLSL-G12D; Tp53fl/fl mice. These findings nominate this cell surface protein as an actionable therapeutic target and highlight the therapeutic potential of PCDH7 inhibition for non–small cell lung cancer. We report the development and characterization of high-affinity anti-PCDH7 monoclonal antibodies (mAbs) that inhibit downstream mitogen-activated protein kinase (MAPK) pathway activation and suppress tumor growth in multiple mutant KRAS–driven models. A lead mAb (mAb7) sensitized tumors …

Amc-F1 Regulates Mitochondria-Autophagy Crosstalk Independent Of Nutrient Stress, Yuqin Wang, Raksha K Rao, Trung Vu, Ayano Sekine, Zhengmei Mao, Nami Mccarty

The Brown Foundation: Institute of Molecular Medicine

Mitochondria and autophagy are fundamental yet distinct regulators of cellular homeostasis. Here, we identify AMC-F1 (Autophagy-Mitochondria Coupling Factor 1; formerly TRIM44) as a central integrator of mitochondrial bioenergetics and autophagy. Using Amcf1 knockout and knock-in mouse models, we demonstrate that AMC-F1 bidirectionally regulates these pathways: its loss reduces mitochondrial respiration and autophagic flux, whereas its overexpression promotes mitochondrial elongation and increases autophagy independently of nutrient stress. Transcriptomic analyses reveal AMC-F1-dependent regulation of mitochondrial biogenesis programs that engage autophagy, involving mitochondrial respiratory chain complex genes under basal conditions and mitochondrial organization factors under starvation-induced autophagy. Although dispensable under homeostasis, this coupling …

Evaluating Chest-Worn Light Logger Adherence: Development And Application Of A Wear/Non-Wear Model, Carlyn Patterson Gentile, Adah Thomas, Ryan Shah, Blanca Marquez De Prado, Nichelle Raj, Christina Szperka, Geoffrey Aguirre

Student Papers, Posters & Projects

Light exposure plays an important role in overall health because it entrains circadian rhythms. Recent technological advances in wearable light loggers allow measurement daily light exposure habits. Using a chest-worn light logger, our goal was to (1) develop methodology for differentiating adherent versus non-adherent use, and (2) define differences in lighting intensity in indoor and outdoor environments, to improve data reliability in future clinical studies using this technology. Four testers used a 10-channel chest worn light logging device under different conditions of wear and non-wear (experiment 1), and another tester made measurements with the light logger across a variety of …

Imaging And Non-Imaging Approaches For The Diagnosis And Monitoring Of Necrotizing Enterocolitis-What Lies Ahead?, Indrani Bhattacharjee, Catalina Le Cacheux, Eric B. Ortigoza, Jonathan Dillman, Sherwin S. Chan, Alain Cuna

Manuscripts, Articles, Book Chapters and Other Papers

Necrotizing enterocolitis (NEC) remains one of the most serious gastrointestinal emergencies in preterm infants, and imaging plays a central role in diagnosis and clinical management. Historically, evaluation has relied primarily on abdominal radiography, which remains widely available and embedded in established diagnostic frameworks. However, the hallmark radiographic signs of NEC (i.e., pneumatosis intestinalis, portal venous gas, and free air) reflect relatively advanced manifestations of intestinal injury that indicate established mucosal disruption or transmural necrosis. Bowel ultrasound has increasingly complemented radiography by enabling real-time assessment of bowel wall integrity, perfusion, motility, and intra-abdominal fluid, providing physiologic information that may refine clinical …

Histone Deacetylase Enzyme Activity Is Not The Universal Anticancer Target Of Hdac Inhibitors, Chaitra Rai, Hang Ruan, Xue Li, Wenbo Li, Hyun-Hwan Jeong, Chengchuang Song, Panpan Liu, Yingjie Chang, Hao Fang, Udhaya Kumar S, Yuxiang Sun, M James You, Dongyin Guan, Zhandong Liu, Leng Han, Xuben Hou, Zheng Sun

Faculty, Staff and Students Publications

Histone deacetylase inhibitors (HDIs) are approved for treating hematologic cancers and are currently being evaluated in hundreds of clinical trials for various cancers and other diseases, although their mechanisms of action remain poorly understood. Here, our unbiased bioinformatics analyses found that, for most cancer types, expression levels or genetic variants of histone deacetylase (HDACs) do not consistently correlate with carcinogenesis, do not predict cancer patient survival, and do not associate with cellular responses to HDIs. Whole-genome CRISPR library screens did not identify HDACs as genes affecting cellular responses to HDIs. Overexpression of dominant-negative Class I HDACs causes similar protein hyperacetylation …

Targeted Reflex Rna Sequencing For Enhanced Variant Classification On Exome And Genome Sequencing Improves Patient Outcomes, Xiaonan Zhao, Robert Rigobello, Morgan Driver, Sydney Lau, Mei Ling Chong, Jason Chibuk, Hongzheng Dai, Wilson C W Wu, Christina Peroutka, Laura Famularo, Alexander Y Kim, Bailey Hummel, Sarah Dugan, Tinsley Douglas, Linyan Meng, Fan Xia, Christine M Eng

Faculty, Staff and Students Publications

RNA sequencing (RNA-seq) has been utilized to provide functional evidence regarding the impact of splicing variants. This study explores the utility of targeted reflex RNA-seq to inform classification of predicted splicing variants identified through clinical exome sequencing (ES) and genome sequencing (GS). A retrospective analysis was conducted on consecutive ES/GS cases completed at a single center in which targeted reflex RNA-seq was performed following identification of eligible variants. There were 131 cases (4.1%) that had at least one RNA-seq eligible variant reported, with eight of these cases having two unique eligible variants. Of the 139 eligible variants, 125 were classified …

Safety And Synergy Of Finerenone And Empagliflozin In Lowering Blood Pressure, Rajiv Agarwal, Ricardo Correa-Rotter, Sankar D Navaneethan, Hiddo J L Heerspink, Matthew R Weir, Janet B Mcgill, Amy K Mottl, Masaomi Nangaku, Julio Rosenstock, Peter Rossing, Muthiah Vaduganathan, Charlie Scott, Li Li, Meike Brinker, Csaba P Kovesdy, Jennifer B Green, Johannes F E Mann

Faculty, Staff and Students Publications

Background: This secondary analysis of the CONFIDENCE (combination effect of fInerenone and empagliflozin in participants with chronic kidney disease and type 2 diabetes using a UACR endpoint) trial (REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT05254002) assessed systolic blood pressure (SBP) changes with empagliflozin/finerenone combination therapy versus monotherapy in people with chronic kidney disease and type 2 diabetes across baseline SBP categories. We assessed SBP response predictors and whether early (day 30) SBP changes mediate urinary albumin-to-creatinine ratio reductions.

Methods: Participants (n=800) were stratified by baseline SBP (< 130 mm Hg; ≥130 mm Hg). Outcomes included SBP response (≥10 mm Hg reduction from baseline at day 180) and longitudinal SBP changes, analyzed by linear mixed-effects models and logistic regression. Causal mediation analysis, a secondary exploratory analysis, evaluated the effect of day 30 SBP change on day 180 urinary albumin-to-creatinine ratio reduction.

Results: At baseline, 532 (66%) participants had SBP ≥130 mm Hg; 268 (34%) …

Growth In Early Infancy Drives Optimal Brain Functional Connectivity Which Predicts Cognitive Flexibility In Later Childhood, Chiara Bulgarelli, Anna Blasi, Samantha Mccann, Bosiljka Milosavljevic, Giulia Ghillia, Ebrima Mbye, Ebou Touray, Tijan Fadera, Lena Acolatse, Sophie E Moore, Sarah Lloyd-Fox, Clare E Elwell, Adam T Eggebrecht, Bright Study Team

2020-Current year OA Pubs

Functional brain network organisation, measured by functional connectivity (FC), reflects key neurodevelopmental processes for healthy development. Early exposure to adversity, for example undernutrition, affects neurodevelopment, observable via disrupted FC, and leads to poorer outcomes from preschool age onwards. We assessed longitudinally the impact of early growth trajectories on developmental FC in a rural Gambian population from age 5-24 months. To investigate how these early trajectories relate to later childhood outcomes, we assessed cognitive flexibility at 3-5 years. We observed that early physical growth before the fifth month of life drove optimal developmental trajectories of FC that in turn predicted cognitive …

The Spiderweb Strategy: Building Strengths In All Directions, Nora Alu, Kerri Green Edd, Ms, Diane Hegedus Msn, Rn, Phrn, Cen, Npd-Bc, Lisa Keller Med, Jeanne M. Reilly M.Ed.

Department of Education

No abstract provided.

Continuous Glucose Monitoring Use In The Management Of Type 2 Diabetes In Primary Care: Cross-Sectional Survey Of Provider Comfort, Ryley Harris, Catherine Guariglia, Amy Cunningham

Department of Family & Community Medicine Faculty Papers

This study assessed primary care providers’ comfort with prescribing and using continuous glucose monitoring technology for type 2 diabetes management, identifying key barriers and educational needs.