Digital Commons Network^™

Mtorc2-Nav1.2 Signaling Drives Early Hyperexcitability In Alzheimer’S Disease Mouse Model, Nolan M Dvorak, Jeffrey L Noebels

Faculty, Staff and Students Publications

Hyperexcitability is a biomarker of early-stage Alzheimer’s Disease (AD) and hastens cognitive decline later in its course. Mechanistic target of rapamycin (mTOR) signaling contributes to the slope of this trajectory, as evidenced by early increased brain expression and the rescue of hyperexcitability by genetic deletion of mTOR complex 2 (mTORC2); however, a molecular mechanism directly linking mTOR signaling to membrane hyperexcitability in early-stage AD remains elusive. Here, we show that hyperactive mTOR signaling stimulates the voltage-gated Na+ channel 1.2 (Nav1.2), a previously identified downstream phosphorylation target of mTORC2 and a key regulator of membrane electrogenesis. Augmented Nav1.2 channel function induced …

Ambulatory Blood Pressure Variability In Prediction Of Target Organ Injury: The Ship Ahoy Study, Coral D Hanevold, Jang Dong Seo, Stephen R Daniels, Bonita E Falkner, Michael A Ferguson, Joseph T Flynn, Julie R Ingelfinger, Philip R Khoury, Marc B Lande, Kevin E Meyers, Mark Mitsnefes, Joshua Samuels, Elaine M Urbina

Faculty, Staff and Student Publications

Background: Ambulatory hypertension is associated with elevated left ventricular mass index (LVMI), cardiac dysfunction, and increased arterial stiffness in adolescents. Whether the addition of measures of BP variability improves the prediction of subclinical cardiovascular target organ damage (TOD) over mean BP measures is not known.

Methods: We assessed clinic and ambulatory BP (ABP), anthropometrics, and TOD in 397 adolescents. ABP means standard deviation (SD), BP, and heart rate (HR) dipping were calculated; coefficients of variability (CV) were calculated (SD/mean) to assess ABP variabilities. Measures of TOD included LVMI, left ventricular hypertrophy (LVH), LV systolic shortening, LV diastolic function (e'/a'), and …

In-Hospital Mortality Patterns And Readmissions In Patients With Chronic Obstructive Pulmonary Disease: An Analysis Of The Role Of Pulmonary Hypertension, Saad Afzal Khan, Trishna Parikh, Adishwar Rao, Akriti Agrawal, Aarohi Parikh, Farah Kazzaz, Sarah Shin, Harry Karmouty-Quintana, Maulin Patel, Kha Dinh, Bela Patel, Bindu Akkanti

Faculty, Staff and Student Publications

Chronic obstructive pulmonary disease (COPD) may be complicated by pulmonary hypertension (PH). We aimed to understand the impact of PH on in-hospital mortality and quantify the 30-day readmission rate among patients with COPD. For this cross-sectional study, we used the Nationwide Readmissions Database from 2017-2020 to identify adults ≥18 years with COPD. Patients were stratified according to PH diagnosis. Baseline characteristics between groups were compared using the Pearson chi-square test and two-sample t-test. Predictors of in-hospital mortality were determined using multivariate logistic regression analysis adjusted for demographics and confounders. The 30-day readmission rate and prevalence of PH subgroups by baseline …

Differences In Infection Prevention And Control Staffing Between Free-Standing And System-Affiliated Hospitals: A National Survey., Lucas Philip, Vittorio Maio, Pamela De Cordova, Elizabeth Monsees, Raegan Davis, Pat Moeller, Andrew Dick, Scott W Keith, Monika Pogorzelska-Maziarz

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Infection prevention and control (IPC) staffing varies across US hospitals, and traditional bed-based benchmarks may no longer reflect contemporary workloads or organizational structures. With most hospitals now system-affiliated, understanding how affiliation influences infection preventionist (IP) staffing is critical for modernizing guidance.

METHODS: A national survey was distributed to US acute care hospitals participating in the National Healthcare Safety Network (NHSN) from August to December 2023, assessing IPC staffing, resource availability, and organizational structure. Hospitals were categorized as free-standing or system-affiliated; differences were assessed with Wilcoxon rank-sum and chi-square tests.

RESULTS: Of 741 responding hospitals, 550 (74%) were system-affiliated and …

Emotional Urgency And Lack Of Perseverance Are Linked To Anxiety Sensitivity And Improve During Early Recovery From Opioid Use Disorder., Breanna A. Mcnaughton-Long, Abigail J. Pleiman, Carmen Buchfink, Chrysantha B. Davis, Rayus Kuplicki, Martin P. Paulus, Hung-Wen Yeh, Maëlle C M Gueguen, Jennifer L. Stewart

Manuscripts, Articles, Book Chapters and Other Papers

Few studies have identified how facets of impulsivity relate to recovery in opioid use disorder (OUD). Treatment-enrolled individuals with OUD (n = 167) and healthy controls (CTL; n = 46) completed the Urgency, Premeditation, Perseverance, Sensation Seeking, Positive Urgency (UPPS-P) Impulsive Behavior Scale along with demographic and clinical measures at visit 1. Over the next three months, abstinence and return to use were documented for participants with OUD (via self-report, alcohol breathalyzer, urine drug screen, and secondary contact communication). Participants with OUD who returned to use (n = 59) did not complete further study visits, whereas those who remained abstinent …

Specific Effects Of Pulsed Field Ablation On The Cardiac Tissue, The Nervous System And The Conduction System In Experimental And Clinical Studies, Josselin Duchateau, Iwanari Kawamura, Gurukripa N Kowlgi, Elad Maor, Moritz Nies, Christian W Zemlin, Tomás García-Sánchez, Samuel J Asirvatham

2020-Current year OA Pubs

AIMS: Pulsed field ablation (PFA) has emerged as a novel ablation modality for the treatment of cardiac arrhythmias and has rapidly reshaped contemporary electrophysiology practice. This article provides a comprehensive analysis on the mechanisms underlying the specific effects of PFA on myocardial, neural tissue structures, and the cardiac conduction system, integrating biophysical principles with preclinical and clinical evidence relevant to contemporary electrophysiology practice.

METHODS AND RESULTS: This document provides an exhaustive mechanistic explanation for the preferential effects of PFA on myocardium and the limits of the 'tissue-selectivity' concept. The complex interplay between cellular and tissue-level biophysics, biological responses, and tissue …

Integrating Dietitians Into Primary Dental Care For Paediatric Populations: Developing A Conceptual Service Pathway Through A Professional Stakeholder Workshop, Lauren Hallewell, Raul Bescos, Zoe Brookes, Robert Witton, Patricia Casas-Agustench

School of Health Professions

BACKGROUND: Diet is a common risk factor influencing both oral and systemic health, yet dietary support within dental care is often limited to brief advice focused on sugar intake. Integrating dietitians into primary dental care for the paediatric population may support earlier identification of dietary concerns and provide the opportunity for dietetic care. However, no established integrated dietetic-dental service pathway for paediatric populations has been identified within primary dental care settings in the United Kingdom.

OBJECTIVE: To explore how selected full-consensus agreement statements could be configured into a conceptual dietetic-dental service pathway for paediatric populations attending primary dental care services …

Artificial Intelligence, Machine Learning, And Deep Learning Approaches For Attention-Deficit/Hyperactivity Disorder Diagnosis: Protocol For A Scoping Review, Benedict Onochie Ibe, Amir Aly, Shaymaa S Al-Juboori, Emmanuel Ifeachor, Rohit Shankar

School of Engineering, Computing and Mathematics

BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) affects over 366 million adults and 139 million children worldwide, yet diagnosis remains fundamentally subjective, relying on clinical interviews, behavioral observations, and rating scales that yield inconsistent results across practitioners and settings. Artificial intelligence (AI), machine learning (ML), and deep learning (DL) offer a paradigm shift toward objective, data-driven diagnosis by detecting complex patterns across neuroimaging, electrophysiology, and digital biomarkers that elude conventional assessment. Although AI-based ADHD research has grown exponentially, no comprehensive synthesis examines the full spectrum of data modalities, validation practices, and clinical translation readiness. This gap limits our understanding of which approaches are …

Translation And Comprehensive Validation Of The Neurological Outcome Scale For Traumatic Brain Injury (Nos-Tbi) Into Brazilian Portuguese, Karina T. Weber, Luciana B. M. Alves, Monica C. Braga, Suleimy C. Mazin, Brunna R. Pileggi, Millene R. Camilo, Viviane A. Guimaraes, Clara M. A. Barreira, Frederico Alessio-Alves, Aline S. Carvalho, Aline C. Pacheco-Castilho, João P. Leite, Dylan J. Edwards, Octavio M. Pontes-Neto, Taiza G. S. Edwards

Moss-Magee Rehabilitation Papers

Background: Traumatic brain injury (TBI) is a leading cause of disability in Brazil and worldwide. National and multinational clinical trials in TBI require global standardization of outcome measures. The original English version of the Neurological Outcome Scale for TBI (NOS-TBI) is a valid and valuable neurological assessment tool. However, NOS-TBI has not yet been validated in Brazilian Portuguese.

Objective: To perform the translation, cultural adaptation, and validation of the NOS-TBI in a Brazilian cohort of individuals with TBI.

Methods: We conducted the translation and cultural adaptation of the NOS-TBI scale to Brazilian Portuguese, followed by an analysis of psychometric properties: …

Study Of Blood Linear Rna Nominates Cd55 And Dld As Early-Stage Biomarkers For Parkinson's Disease, Aleksandra Beric, Sarp Sahin, Santiago Sanchez, Zining Yang, Ravindra Kumar, Isabel Alfradique-Dunham, Jessie Sanford, Daniel Western, Bridget Phillips, John P Budde, Richard J Perrin, Paul T Kotzbauer, Joel S Perlmutter, Scott A Norris, Carlos Cruchaga, Laura Ibanez

2020-Current year OA Pubs

Parkinson's disease (PD) is the second leading neurodegenerative disease, pathologically characterized by the accumulation of alpha-synuclein in the brain and the loss of dopaminergic neurons in the substantia nigra pars compacta. Despite the intensive efforts to identify diagnostic biomarkers for PD and nominating prospective candidates such as such as CSF α-synuclein seed amplification assay or α-/β-synuclein ratio, establishment of minimally invasive biomarkers remains the focus of PD research. We leveraged transcriptomic data from 4343 participants from four independent datasets to robustly identify PD-associated transcripts. Following the differential abundance analyses, we integrated our findings with several brain transcriptomic, CSF proteomic, plasma …

Metanet: A Supervised Ensemble Learning Framework For Reconstructing Direct And Functional Tissue-Specific Transcription Factor Networks, Wooseok J Jung, Sandeep Acharya, Daniel P Ruskin, Shu Liao, Vaha Akbary Moghaddam, Zolboo Erdenebaatar, Michael R Brent

2020-Current year OA Pubs

MOTIVATION: Reconstructing tissue-specific transcription factor (TF) networks remains challenging. TF-motif-based methods often lack functional validation, while expression-based methods struggle to distinguish direct binding from indirect regulation. Integration of diverse data types is necessary to accurately prioritize likely functional targets directly bound by TFs across human tissues.

RESULTS: We introduce METANet (Motif Expression TF Association Networks), a supervised ensemble learning framework that combines TF motifs, cis-regulatory element activity, and linear and nonlinear expression-derived features to predict TF binding. Applied to 36 human tissues, predicted METANet maps significantly outperform established methods in identifying direct, likely functional targets of TFs validated by ChIP-seq …

Support For Human And Civil Rights In Physical Disability, Mental Illness, And Substance Use Disorder, Jessica Williams, Mia Kouveliotes, Nev Jones, Morgan C Shields

2020-Current year OA Pubs

IMPORTANCE: While there is much research on stigma toward marginalized populations, public perceptions regarding deservingness of basic human and civil rights of these groups have not been examined in a nationwide sample of US adults.

OBJECTIVE: To understand the US public's perceptions regarding deservingness of basic human and contested civil rights for people with severe physical disabilities (SPDs), severe mental illness (SMI), and substance use disorders (SUDs).

DESIGN, SETTING, AND PARTICIPANTS: This cross-sectional study was a nationwide US internet-based quota panel survey of US adults (aged ≥18 years) who completed the survey. Responses were collected from January 17 to February …

Burden Of Disease In Us Patients With Skeletal Versus Muscular Or Pain Manifestations Of Hypophosphatasia: An Analysis From The Global Hpp Registry., Priya S. Kishnani, Steven Ing, Julie Hoover-Fong, J Carl Pallais, Angie Voskopoja, Shona Fang, William R Mowrey, Eric Rush, Kathryn Dahir

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Hypophosphatasia (HPP) is a metabolic disorder characterized by deficient alkaline phosphatase (ALP) activity, defective mineralization of bones and teeth, and non-skeletal manifestations. We compared disease burden between patients with skeletal and non-skeletal manifestations.

METHODS: Data from US adults enrolled in the Global HPP Registry through July 2024 were analyzed to compare baseline characteristics, genetic testing results, functional outcomes, and patient-reported outcomes between participants with and without overt skeletal manifestations. Patients who had only dental manifestations were excluded.

RESULTS: Of 283 participants, 234 (82.7%) had skeletal manifestations (79.1% female; 89.3% White; median age 48.7 years) and 49 (17.3%) had only …

Ceftaroline Pharmacokinetics On Ecmo, A Pediatric Case Report., Kathryn Pavia, Ashton Bellamy, Alaina Burns, Allison Scott, Ethan A. Poweleit

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: In-vitro studies suggest that patients on extracorporeal membrane oxygenation (ECMO) may struggle to achieve therapeutic ceftaroline exposure to treat infections due to antibiotic sequestration within the ECMO oxygenator; however, there are no published data regarding ceftaroline concentrations from patients supported by ECMO.

PATIENT PRESENTATION: Here we present an analysis of ceftaroline pharmacokinetics in a 5-y-old patient supported on ECMO due to influenza-associated necrotizing pneumonia.

RESULTS: A total of nine concentrations were analyzed, including three concentrations prior to cannulation and six on ECMO. ECMO cannulation was associated with a relatively small change in the volume of distribution (0.17 L/kg to …

Early Prediction Of The Breast Cancer Response To Neoadjuvant Chemotherapy Based On Intratumoral Interstitial Fluid Pressure Using 3-D Subharmonic-Aided Pressure Estimation, Sung In Choi, Basak Dogan, Corinne E. Wessner, Jessica H. Porembka, Priscilla Machado, B. Bersu Ozcan, Nisha Unni, Maysa Abu-Khalaf, Kenneth Hoyt, Flemming Forsberg, Kibo Nam

Department of Radiology Faculty Papers

Elevated intratumoral interstitial fluid pressure (IFP) may negatively impact the efficacy of neoadjuvant chemotherapy (NAC). This study aimed to predict the breast cancer response to NAC based on intratumoral IFP using 3D contrast-enhanced ultrasound (CEUS) with subharmonic-aided pressure estimation (SHAPE). This prospective study enrolled breast cancer patients undergoing NAC from two clinical sites. 3D CEUS was performed at 0%, 10%, and 30% of NAC completion using a GE Logiq E9 with Definity. The pressure gradients between the tumor and adjacent normal tissue were estimated by SHAPE, utilizing the inverse linear relationship between the ultrasound contrast agent’s subharmonic signal amplitude and …

A Deep-Learning Based Biomarker Of Systemic Cellular Senescence Burden To Predict Mortality And Health Outcomes, Shangshu Zhao, Chia-Ling Kuo, Eric J Lenze, Julie L Wetherell, Laura Haynes, Perla El-Ahmad, Richard Fortinsky, George Kuchel, Trevor Harris, Breno S Diniz

2020-Current year OA Pubs

The accumulation of senescent cells is a recognized hallmark of biological aging and is associated with the onset of multiple chronic medical conditions. Senescent cells exhibit a distinct secretory profile, known as the senescence-associated secretory phenotype (SASP), which can propagate cellular senescence to neighboring and distant tissues. Measuring SASP factors in blood serves as a practical proxy for cellular senescence burden and may help track disease states and intervention outcomes. We developed and validated a composite SASP Score by integrating large-scale population proteomics data with a semi-supervised deep learning framework. The analytical workflow included: (1) selection of biologically curated SASP …

Training Apart, Together: Team Dynamics In Individual Sports And Surgical Residency, W. Jack Palmer, Dylan Bertoni, Elizabeth E. Cottrill, Colin T. Huntley

Department of Otolaryngology - Head and Neck Surgery Faculty Papers

Surgeons in training share notable parallels with competitive athletes, including rigorous training, skill specialization, and functioning under pressure. Surgical educators have leveraged this comparison, incorporating techniques from sports psychology, such as mental imagery and mindfulness, to improve trainees' individual performance and well-being. Surgical trainees and athletes both rely on effective teamwork for optimal outcomes, suggesting that residency leaders can glean valuable team-level insights from sports psychology. This article examines how the structure of surgical residency influences team dynamics, using concepts from sports psychology to identify evidence-based strategies for improving program cohesion and resident well-being. The surgical literature typically conceptualizes surgery …

Early Hands-On Surgical Exposure: Outcomes Of A Student-Led Surgical Externship Program For Preclinical Students, Meryem C. Guler, Elizabeth Spitz, Jennifer E. Geller, Talar Tatarian, Renee Tholey

Department of Surgery Faculty Papers

Objective: Early surgical exposure may potentially influence medical students' decision to pursue a surgical career. At our urban, academic medical school, senior medical students developed a Surgical Externship Program (SEP) to provide first-years with hands-on OR experience. This program is a structured 1- to 2-week immersive experience in which first-year students scrubbed into operations, participated in rounds, and engaged with surgical teams under resident and attending supervision. This study evaluates the SEP's impact on surgical interest, OR confidence, and clinical exposure.

Setting: Academic tertiary care hospital.

Participants: First-year medical students.

Design: First-year students participated in a 1- or 2-week SEP …

Clinical Presentations, Treatments, And Outcomes Of Pediatric Lupus Nephritis: A Prospective Cohort Study From The Pediatric Nephrology Research Consortium., Melonie Phillips, Mahmoud Kallash, Chloe Tang, Steve Rust, Kia Jubert-Bacon, Scott Wenderfer, Smriti Mohan, Neal Blatt, Don Batisky, Alejandro Quiroga, Tetyana L. Vasylyeva, Nilka Dejesus, Jerome C. Lane

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: There are few prospective studies of mycophenolate mofetil (MMF) versus cyclophosphamide (CYC) for pediatric lupus nephritis (pLN) and none evaluating rituximab (RTX).

METHODS: The Prospective Pediatric Lupus Nephritis Registry (ProPeL-R) enrolled patients <  21 years within 4 weeks of an initial kidney biopsy diagnostic of pLN. Demographic, clinical, and laboratory data were collected prospectively at enrollment, 3 months, 6 months, and then every 6 months thereafter for up to 5 years of follow-up. For this study, we compared patients receiving initial therapy with corticosteroids (CS) and either MMF (n = 33) vs. CYC (n = 18), and those treated with CS, either MMF or CYC, with RTX (n = 20) vs. without RTX (n = 51).

RESULTS: Histology consisted of 18% class III; 35% class IV; 25% mixed class; and 22% pure class V. Eighty-two percent were female. No significant differences in response or infection rates were identified between those receiving MMF or CYC. There was a significant increase in combined complete (CR) and partial response (PR) at 24 months with RTX use. Overall CR rates at 6 and 24 months were 35% …

Streamlining Diagnosis Of Bardet-Biedl Syndrome: New Diagnostic Algorithm With Updated Criteria., Jeremy J. Pomeroy, Jesse Richards, Brooke Sweeney, Seema Kumar, Katie E. Queen, Joshua Zaritsky, Carl H. Cramer, Elias I. Traboulsi, Brittni A. Scruggs, Erica E. Davis, Ekaterina Keifer, Emma Mcgibbon, Timothy Ogden, Bendert De Graaf, Tonia Hymers, Elizabeth Forsythe, Philip Beales

Manuscripts, Articles, Book Chapters and Other Papers

Considerable advances have been made in our understanding of Bardet-Biedl syndrome (BBS), particularly in its core clinical features and molecular genetics, warranting an update to the existing diagnostic criteria framework. Using a rigorous, evidence-based, and consensus-driven process, a multidisciplinary group of international experts and patient-led organizations developed an updated diagnostic algorithm. This algorithm provides practical, updated guidance for clinicians, including a pathway for accurately incorporating genetic findings into the diagnostic process. We recommend that a clinical diagnosis requires either 4 major criteria or 3 major and 2 minor criteria. Revised major criteria are retinal dystrophy, obesity (or overweight in individuals <  2 years old), congenital anomalies of the kidney and urinary tract or chronic kidney disease, hypogonadism/genital anomalies, neurodevelopmental/neurocognitive manifestations, and postaxial polydactyly. The diagnosis can also be established with a positive genetic testing result in patients exhibiting ≥ 1 major criterion, provided that genetic findings should be interpreted in the context of the patient's clinical presentation, age, family history, and overlap with related ciliopathies. These consensus criteria offer a simple algorithm incorporating updated definitions for major and minor criteria and genetic testing to support a timely and accurate diagnosis of patients with BBS, inform genetic counseling, and potentially facilitate earlier access to treatment. Trial Registration: CRIBBS Registry; ClinicalTrials.gov: NCT02329210.

Cytomegalovirus Immune Responses And Cognitive Impairment In People With Human Immunodeficiency Virus, Lakshmi Chauhan, Debashis Ghosh, Beau Ances, Katherine Tassiopoulos, Kunling Wu, Adriana Weinberg, Kristine M Erlandson

2020-Current year OA Pubs

People with human immunodeficiency virus (HIV) have an earlier occurrence of aging complications, including cognitive impairment (CI). Chronic immune activation from cytomegalovirus (CMV) may contribute to increased inflammation and CI. We explored this association using several measures of CMV immune response among people with HIV (PWH). In a case-control design, we compared CMV immunoglobulin G (IgG), enzyme-linked immunospot (ELISpot), and flow cytometry between cases (subsequent CI) and controls (no CI). Baseline CMV IgG, CMV ELISpot, or flow measures were not associated with subsequent CI. This exploratory analysis supports larger studies using more nuanced immunophenotyping to clarify relationship between CMV and …

Molecular And Structural Basis For Replication Initiation And Strand Separation By Human Mitochondrial Dna Polymerase Γ, Viktoriia Sokolova, Gina Buchel, S. Strock, Ashok R. Nayak, Dmitry Temiakov

Department of Biochemistry and Molecular Biology Faculty Papers

Defects in human mitochondrial DNA (mtDNA) replication can lead to somatic mutations associated with a range of devastating mitochondrial diseases. However, the molecular mechanisms governing the earliest steps of mtDNA replication and their fidelity remain poorly understood. Here, we found that DNA polymerase gamma (Polγ) forms stable complexes with RNA-DNA primer-template substrates, exhibiting greater stability and lower misincorporation than on DNA-primed substrates. Structural analysis revealed that Polγ interacts with the 2'-OH groups of ribose within the first four nucleotides of the primer, explaining the stability of complexes that utilize RNA primers. Although Polγ requires TWINKLE to extend RNA primers, its …

Turkish Translation And Cultural Adaptation Of The Evaluation In Ayres Sensory Integration (Easi), Aymen Balikci, Ayse Firdevs Aracikul Balikci, Isabelle Beaudry-Bellefeuille, Gamze Cagla Sirma, Fatos Kirteke, Zoe Mailloux, L. Diane Parham, Susanne Smith Roley, Roseann C. Schaaf

Department of Occupational Therapy Faculty Papers

INTRODUCTION: Cultural sensitivity and relevance are critical components for best practice in occupational therapy assessment. The Evaluation in Ayres Sensory Integration (EASI) is a performance-based assessment designed to evaluate sensory perception, sensory reactivity, postural control, ocular control, bilateral integration, and praxis abilities in children aged 3-12 years. Before the development of this tool, no standardized performance-based assessment of sensory integration functions had included a normative Turkish sample. The objective of this study was to translate and culturally adapt the EASI for Türkiye.

METHOD: A seven-step process for translation and cross-cultural adaptation, grounded in established methodology, was applied. The steps included …

Nemp1 Organizes The Meiotic Telomere-Linc Interface To Control Chromosome Movement And Telomere Integrity, Hui Zhang, Ling Zhang, Stephanie A Pangas, Andrea Jurisicova, Helen Mcneill

Faculty, Staff and Students Publications

Nuclear Envelope Membrane Protein 1 (NEMP1) is highly expressed in oocytes and required for fertility, yet its meiotic function remains poorly understood. Here, we identify NEMP1 as a critical organizer of meiotic telomere-nuclear envelope coupling and chromosome dynamics. Loss of NEMP1 causes telomere aggregation, loss of shelterin protection, telomere shortening, persistent DNA damage, aberrant non-homologous end joining, and chromosome end-to-end fusion, ultimately leading to aneuploidy in mouse oocyte. NEMP1 is required during early fetal meiotic prophase I for telomere-nuclear envelope attachment, bouquet formation, homolog pairing, and synapsis. Live-cell imaging revealed robust rapid prophase movements in wild-type meiocytes, which were nearly …

Understanding The Lived Experiences Of Individuals With Post-Acute Sequelae Of Sars-Cov-2 Infection (Pasc) In Rwanda: A Phenomenological Qualitative Study, Iliza Grace Ndatinya, Simal Thind, Fernand Rwamwejo

Global Health Articles

OBJECTIVES: To qualitatively explore the lived experiences of individuals with post-acute sequelae of SARS-CoV-2 infection (PASC) in Rwanda, with the aim of informing context-appropriate interventions to improve patients' quality of life.

DESIGN: Qualitative, phenomenological study using in-depth interviews and thematic analysis.

SETTING: All provinces of Rwanda, including the City of Kigali.

PARTICIPANTS: Adults who tested positive for PASC during a nationwide prevalence study were purposively sampled across all study sites. A total of 30 people were interviewed before saturation was reached.

RESULTS: Participants' lived experiences with PASC were characterised by numerous themes. Despite describing significant life changes since their COVID-19 …

Feasibility And Acceptability Of Perioperative Application Of Biofeedback-Based Virtual Reality Vs Control For Pain And Anxiety In Children And Adolescents Undergoing Surgery: Pilot Randomized Controlled Trial, Anna Lin, Brenna Rachwal, Lindsey Asti, Zandantsetseg Orgil, Isabela Santiago, Lili Ding, Susmita Kashikar-Zuck, Christopher King, Sara Williams, William Black, Peter Minneci, Vanessa Olbrecht

Department of Anesthesiology Faculty Papers

BACKGROUND: The impact of biofeedback-based virtual reality (VR-BF) on pain and anxiety in pediatric surgical patients remains unexplored.

OBJECTIVE: The objective of this study was to evaluate the feasibility and acceptability of perioperative VR-BF use in children and adolescents.

METHODS: We performed a single-blind, 2-arm, randomized pilot trial. Children aged 12 to 18 years undergoing surgery with expected moderate-to-severe postoperative pain and more than 1 overnight admission were randomized (1:1) to the intervention or control group. Participants in the intervention group received VR-BF using ForeVR (functional outcome response to engaging virtual reality [VR]), a novel, gamified digital intervention that integrates …

Operative Vs Non-Operative Management Of Ventral Hernia: A Population Based Study Of Long-Term Benefits And Consequences, Sourav Podder, Julia A. Baran, Scott H. Koeneman, Francesco Palazzo, Nicole L. Dugan, Christopher Keating, Sami Tannouri

Department of Surgery Faculty Papers

Purpose: Ventral hernia (VH) management has progressed beyond simply physical repair of the defect. It now involves a strategy that purposefully restores abdominal core function and prevents future complications. This study investigates the association between ventral hernia repair (VHR) and functional disorders related to the abdominal core in addition to bowel obstruction, opioid misuse, and physical therapy utilization.

Methods: This retrospective cohort study used administrative codes from the TriNetX database. The outcomes of interest were spine and pelvic floor dysfunction, constipation, incontinence, genital prolapse, bowel obstruction, opioid misuse, and physical therapy utilization.

Results: A total of 587 384 patients were …

Interface Geometry Governs Probe Insertion Mechanics And Electrode Deviation In Layered Brain-Mimicking Phantoms For Deep Brain Stimulation, Siyu Chen, Chengyuan Wu, Ethan Anders, Rungun Nathan, Olivia M. Bailey, Qifu Wang, Curtis L. Johnson, Qianhong Wu

Department of Neurosurgery Faculty Papers

Parkinson's disease (PD) is a progressive neurological disorder often treated with Deep Brain Stimulation (DBS), a surgical procedure that involves implanting electrodes to improve motor function. Accurate electrode placement is critical for treatment efficacy but can be influenced by tissue deformation, insertion forces, and the mechanical properties of brain tissue. In this study, we investigated the role of layer interface angle as a controlled biomechanical factor affecting insertion forces and electrode deviation. A two-layer agar gel phantom was constructed to produce a prescribed stiffness transition between a lower-stiffness and a higher-stiffness gel layer, and its small-amplitude dynamic shear-stiffness contrast was …

Intensive Longitudinal Assessment Of Stress And Stress-Related Concepts Across A Weight Loss Program: Protocol For A Longitudinal Ecological Momentary Assessment Study., Chelsea L. Kracht, Ann M. Davis, Udayan Apte, Madigan Snodgrass, Taylor Y. Collier, Jeffery J. Honas, John M. Jakicic

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Fluctuations in daily stress and the inability to cope with this stress (i.e., coping) can negatively impact behavior and potentially weight loss. Longitudinal studies using ecological momentary assessment (EMA) of psychological factors and behavior may inform interventions that can be adapted in real-time to modify stress and stress-related factors to enhance weight loss. This study's purpose is to examine variability in stress and stress-related concepts and weight loss during a behavioral weight loss program with the intent of this informing future interventions.

METHODS: Individuals with obesity (body mass index: ≥ 30 kg/m2) who are newly enrolled in an existing …

Blinatumomab Care Delivery For Pediatric B-Cell Acute Lymphoblastic Leukemia, Daniel Zheng, Katelyn Oranges, Subhash Ramakrishnan, Lingyun Ji, Melissa Beauchemin, Sarah Alexander, Allison Leahy, Kira Bona, Emi Caywood, Sharon Castellino, Sumit Gupta, Douglas Hawkins, Olga Militano, Kathleen Montgomery, Haley Newman, Rachel Rau, Susan Rheingold, Joanna Robles, Michael Roth, David Teachey, Sarah Vargas, Sue Zupanec, Susan Parsons

Department of Pediatrics Faculty Papers

IMPORTANCE: Blinatumomab, a novel immunotherapy administered as a 28-day continuous infusion, has fundamentally shifted the treatment paradigm for pediatric B-cell acute lymphoblastic leukemia (B-ALL) and is now considered a component of standard therapy for the most common childhood cancer. However, the care delivery challenges in transitioning from an experimental agent on a clinical trial to widespread clinical implementation are unknown.

OBJECTIVE: To characterize the clinical landscape of pediatric blinatumomab care-delivery practice and challenges in the US from the perspective of treating centers.

DESIGN, SETTING, AND PARTICIPANTS: This survey study was conducted from February to March 2025 among US member institutions …