Digital Commons Network^™

Outcomes After Elective Total Aortic Arch Replacement: Does Obesity Matter?, Vicente Orozco-Sevilla, Michael Tyler Guinn, Ivan Murrieta-Alvarez, Veronica A Glover, Susan Y Green, Subhasis Chatterjee, Scott A Lemaire, Marc R Moon, Joseph S Coselli

Faculty, Staff and Students Publications

Objective: Obesity is a chronic disease linked to high mortality and morbidity after cardiac procedures, but its relationship to outcomes after total aortic arch replacement (TAR) remains unclear. We examined TAR data to determine whether obesity is associated with greater perioperative risk.

Methods: Among 787 TARs performed from 1990 to 2023, we excluded patients who lacked body mass index (BMI) data, had nonelective or nonstandard repairs, or were underweight (BMI < 18.5 kg/m2). The remaining 521 patients did not have obesity (18.5 ≤BMI < 30; n = 389) or did (BMI ≥30; n = 132). Patients with obesity were class 1 (30 ≤ BMI < 35), class 2 (35 ≤ BMI < 40), or class 3 (BMI ≥40). We compared preoperative and perioperative variables for BMI ≥30 (obesity) versus BMI < 30. Adverse events were operative mortality, persistent stroke, spinal cord deficit, and renal failure. We performed multivariable logistic regression and Kaplan-Meier survival analysis.

Results: Patients with obesity had greater rates of obstructive sleep apnea, transient spinal cord deficit, and acute renal dysfunction than patients with normal weight. During repair, the use of antegrade …

Retrospective Analysis Of A Washu-Based Knowledge-Based Planning (Kbp) Model For Breast And Chest Wall Planning In Guatemala: Compliance With American Society For Radiation Oncology (Astro) 2026 Guidelines, Milton E Ixquiac Cabrera, Erick O Montenegro, Matthew Schmidt, Baozhou Sun, James A Kavanaugh, Taoran Li, Angel Velarde, Vicky De Falla, Francisco Reynoso

Faculty, Staff and Students Publications

Background/purpose

Breast cancer is among the most prevalent malignancies treated at the Liga Nacional Contra el Cáncer (LNCC) in Guatemala, representing a significant proportion of annual radiotherapy cases. Access to high-quality, standardized treatment planning in resource-constrained settings remains a critical challenge. This study evaluates the dosimetric performance of knowledge-based planning (KBP) models adapted from Washington University (WashU) in St. Louis for breast and chest wall radiotherapy at LNCC, validated against a retrospective 2025 clinical cohort, and benchmarked against the ASTRO 2026 Practical Radiation Oncology guidelines.

Materials and methods

A retrospective analysis of 84 treatment plans (40 left, 44 right) for …

Validation Of The Immune-Mediated Colitis Endoscopic Score Using A Retrospective Cohort Of Patients With Immune-Mediated Colitis, Malek Shatila, Carolina Colli Cruz, Krishnavathana Varatharajalu, Andres Caleb Urias Rivera, Kian Abdul-Baki, Kei Takigawa, Tanvi Gupta, Elliot Baerman, Linfeng Lu, Irene Jeong-Ah Lee, Hamza Salim, Raakhi Menon, Andrew Sullivan, Varun Vemulapalli, Cristina Natha, Ayesha Khan, Petros Grivas, David Faleck, Michael Dougan, Anusha Shirwaiker Thomas, Yinghong Wang

Faculty, Staff and Students Publications

Background and aims: Immune-mediated colitis (IMC) is a challenging adverse effect of immune checkpoint inhibitor therapy, often leading to treatment interruption or discontinuation. Current IMC endoscopic scoring systems were adapted from those used for inflammatory bowel disease but fail to fully capture IMC. The newly proposed IMC endoscopic score (IMCES) seeks to help guide prognosis and treatment. We aimed to validate IMCES and explore its association with IMC clinical severity and outcomes.

Methods: This single-center retrospective study included patients with IMC who received immune checkpoint inhibitors and underwent endoscopic evaluation. IMCESs were calculated on the basis of 10 gross endoscopic …

Corrigendum To “Establishing A Training Plan And Estimating Inter-Rater Reliability Across The Multi-Site Texas Childhood Trauma Research Network” [Psychiatry Research 323 (2023) 115168], Jeffrey D Shahidullah, James Custer, Oscar Widales-Benitez, Nazan Aksan, Carly Hatchell, D Jeffrey Newport, Karen Dineen Wagner, Eric A Storch, Cynthia Claassen, Amy Garrett, Irma T Ugalde, Wade Weber, Charles B Nemeroff, Paul J Rathouz

Faculty, Staff and Students Publications

No abstract provided.

Menopause May Partially Explain Age-Related Increased Risk Of Masld Fibrosis: A Causal Mediation Analysis, Itunu O Sokale, Yan Liu, Hashem B El-Serag, Fasiha Kanwal, Aaron P Thrift, Maya Balakrishnan

Faculty, Staff and Students Publications

No abstract provided.

Comparison Of Different “Familial Chylomicronemia Syndrome” Clinical Diagnosis Scoring Systems In Patients With Persistent Chylomicronemia, Diane Brisson, Miriam Larouche, Nathalie Laflamme, Seyedmohammad Saadatagah, Jean Bergeron, Christie M Ballantyne, Daniel Gaudet

Faculty, Staff and Students Publications

Background: Chylomicronemia is associated with extreme hypertriglyceridemia and an increased risk of acute pancreatitis and cardiometabolic complications. Rarely, chylomicronemia persists despite control of secondary causes and conventional treatments. The most severe form of persistent chylomicronemia (PC) is familial chylomicronemia syndrome (FCS). Diagnosis scoring systems have been developed to help clinicians differentiate FCS from other causes of chylomicronemia.

Objective: To assess the ability of FCS diagnosis scoring systems to discriminate FCS from other forms of PC.

Methods: This study included 413 Caucasians presenting a history of chylomicronemia, among whom 65 (15.7%) met the criteria of PC. The performance of 3 FCS …

Validity And Utility Of A Single-Item Patient-Reported Measure Of Treatment-Related Bother In Rheumatoid Arthritis: A Cross-Sectional Omeract Study, Dorthe B Berthelsen, Tobias Haugegaard, Mohammed M Kamso, Peter Tugwell, Lee S Simon, John P A Ioannidis, Caroline Flurey, Maarten Boers, Marieke Voshaar, Pam Richards, Beverly Shea, Daniel E Furst, Jasvinder A Singh, Randall Stevens, Thasia Woodworth, Susan J Bartlett, Glen S Hazlewood, Robin Christensen

Faculty, Staff and Students Publications

Objectives: To assess the construct validity of a modified single-item measure of bother due to side effects (the GP5 item) from the Functional Assessment of Chronic Illness Therapy (FACIT) system by comparing it to current symptomatic side effects from the Patient-Reported Outcomes of the Common Terminology Criteria for Adverse Events (PROCTCAE) reported by patients with rheumatoid arthritis (RA).

Methods: Through a cross-sectional, web-based survey we collected information on the frequency of symptomatic side effects and bother from side effects related to RA medications. We applied multiple correspondence analysis (MCA) to reduce 80 symptomatic side effects into key dimensions (≥5% of …

Paid Employment And Ability To Work Among People Receiving Dialysis: A Systematic Review Of Qualitative Studies, Ao Zhang, Adam Martin, Karine Manera, Chandana Guha, Martin Howell, Patrizia Natale, Nicole Scholes-Robertson, Dharshana Sabanayagam, Adeera Levin, Wolfgang Winkelmayer, Kevin F Erickson, Germaine Wong, Allison Jaure, Anita Van Zwieten

Faculty, Staff and Students Publications

Rationale & objective: People receiving dialysis have reduced workforce participation, which can affect mental well-being and exacerbate the financial burden of dialysis. This study describes the experiences and perspectives of people receiving dialysis on employment and their ability to work.

Study design: Systematic review and thematic synthesis of qualitative studies.

Setting & study populations: Adults aged 16 years and over receiving dialysis.

Search strategy & sources: MEDLINE, Embase, and PsycINFO were searched to May 2025 for qualitative and mixed-methods studies that reported the perspectives of people receiving dialysis on employment or ability to work.

Data extraction: Text from results and …

Barrett’S Esophagus-Associated Genetic Loci In African Americans: A Case-Control Study Using The All Of Us Research Program, Ashwin Rao, Jinyoung Byun, Aaron P Thrift, Hashem B El-Serag

Faculty, Staff and Students Publications

Background and aims: Barrett's esophagus is the only known precursor lesion to esophageal adenocarcinoma (EAC). Barrett's esophagus and EAC are less common in African Americans than in non-Hispanic Whites. Studies in European populations have identified Barrett's esophagus-associated risk loci; however, none have examined loci in African Americans cohorts. We conducted a case-control targeted replication study to investigate previously identified Barrett's esophagus risk loci in an African Americans cohort in the All of Us (AoU) Research Program.

Methods: We abstracted phenomic and genomic data from 108 African Americans with Barrett's esophagus and 778 African Americans controls in the AoU database. We …

Association Of Infection Frequency And Incident Clonal Hematopoiesis Of Indeterminant Potential, Ajibike Lapite, Vernon A Burk, James Decuir, Junichi Ishigami, Seyedmohammad Saadatagah, Pradeep Natarajan, Christie M Ballantyne, Elizabeth A Platz, Katherine Y King

Faculty, Staff and Students Publications

Clonal hematopoiesis of indeterminant potential (CHIP) is an age-related phenomenon associated with increased risk of hematologic malignancy. Preclinical studies have shown that infection is a driver of CHIP; clinical studies in people living with HIV suggest a relationship between chronic infection and CHIP, but the association between infection frequency and incident CHIP in the general population remains unknown. We leveraged the atherosclerosis risk in communities study to design a closed prospective cohort study. CHIP was determined based on whole-exome sequencing at 2 time points 20 years apart. Included were 3,367 individuals without cancer or CHIP at time 1 and without …

Spatial Transcriptomics Reveals Coordinated Endothelial And Epithelial Activator Protein-1 Activation In Chronic Lung Allograft Dysfunction, Yasufumi Goda, Tatsuhiko Naito, Mudassir M Banday, Andrew S Potter, Igor Odintsov, Kapil Patel, Nicole Davis, Stefi Lee, Amit Gaggar, Ivan Rosas, Gabriel Loor, Don Hayes, Nirmal S Sharma

Faculty, Staff and Students Publications

Chronic lung allograft dysfunction (CLAD) limits long-term lung graft survival, yet its specific gene expression profiles remain unclear. We performed comprehensive spatial transcriptomic analyses of human lungs from CLAD patients, non-CLAD transplant recipients, and non-transplanted controls. In CLAD, AP-1 target genes, including JUNB and FOS, were significantly upregulated in both the epithelium and endothelium, whereas anti-fibrotic genes such as A2M and surfactant proteins (SFTPA1,2) were upregulated in non-CLAD. The lymphocyte population in CLAD was predominantly composed of T cells, with elevated JAK3-IL7R signaling. TNF and IL-17 signaling pathways were commonly activated in both the epithelium and endothelium, with JUNB and …

The Soft Cluster Score As A Multifaceted Predictive Model For Postoperative Outcomes, Gwendolyn B Henry, Spoorthi Kamepalli, Carter J Burns, Jeremy Birkmire, George Cholankeril, Avegail Flores, John A Goss, Abbas Rana

Faculty, Staff and Students Publications

Background: Consideration of both donor and recipient factors at the time of an organ offer is crucial in achieving the most optimal outcome given the shortage of available donor organs and waitlist mortality risk. Our aim was to achieve a comprehensive risk assessment for liver transplant patients by creating a series of independent risk index equations for 6 distinct posttransplant endpoints in the transplant continuum of care.

Methods: The Survival Outcomes Following Liver Transplantation (SOFT) Cluster score includes risk indices for patient mortality at 90 d, 1 y, 3 y, and 5 y posttransplant, graft failure at 1 y after …

Corneal Innervation Research At A Crossroads: A Tool-Driven Roadmap For The Future, Anna Matynia, Ian D Meng, Brian M Davis, Stephen C Pflugfelder, Anat Galor, Victor L Perez, Elizabeth R Felix, Pedram Hamrah, Pantelimon Rompolas, Raul E Ruiz-Lozano, Shamsuddin A Bhuiyan, Kaveh Moghbeli, Evangelia Semizoglou, William Renthal, Harinder Singh, Jishnu Das, Marcin Golczak, Mary Ann Stepp, Catherine W Morgans, Cintia S De Paiva, Carl Y Saab, Igor Spigelman, Rony R Sayegh, Tally M Largent-Milnes, Hao Wu, Wenqin Luo, Sreya Mitra, Heesuk Yoo, Sina Farsiu, Sejiro Littleton, Eden Jacob, Matthew T Mcpheeters, Maryse Lapierre-Landry, Jordan J Smith, Xi Wang, Roxana Florea, Made Airanthi K Widjaja-Adhi, Scott Holmes, Zane Zemborain, Kate E T Laise, Nicholas J Pondelis, Ki-Soo Jeong, Rui Chen, Michael W Jenkins, Vivian Lee, Eric A Moulton, Deborah S Jacobs, Sue A Aicher, Anthony J St Leger, Daniel R Saban

Faculty, Staff and Students Publications

Corneal innervation research has faced long-standing clinical challenges that only recent technological breakthroughs now make tractable. Advances in single-cell analysis, viral vectors, clinical imaging, and artificial intelligence provide integrated approaches for uncovering molecular mechanisms underlying functional outcomes and facilitating clinical applications. The National Eye Institute's U01-funded consortium on ocular surface innervation addresses major knowledge gaps in characterizing corneal-projecting neurons, understanding neuroimmune and epithelial interactions in the cornea, and translating animal model findings to human pathology. The unique properties of the cornea (transparent, avascular, and densely innervated) make it ideal for neurobiology research on peripheral and central sensory processing. Through a …

Transient Yap Activation Uncovers The Neurogenic Potential Of Proliferative Mammalian Müller Glia, English J Laserna, Irina V Saltykova, Benjamin M Hall, Xuefei Tong, Justin S Dhindsa, Borna Sarker, Ayrea E Hurley, Paul G Swinton, William R Lagor, Nicholas M Tran, James F Martin, Ross A Poché

Faculty, Staff and Students Publications

The Hippo pathway effector YAP promotes spontaneous proliferation of Müller glia (MG), suggesting that bypassing Hippo signaling and activating YAP could enhance retinal regeneration. However, whether proliferative adult MGs retain meaningful neurogenic competence remains unclear. Here, using viral delivery of a Hippo-resistant YAP variant to wild-type adult MGs, we achieved transient YAP activation in adult MGs, inducing proliferation followed by cell-cycle withdrawal and differentiation. Intersectional genetic lineage tracing and EdU labeling, combined with transcriptomic analyses, revealed that YAP-activated MGs predominantly regenerate MGs, whereas only a subset gives rise to bipolar cell-like neurons. These results indicate that proliferative MGs acquire a …

Investigating The Correlation Between Scleral Spur Angle And Intraocular Lens Tilt, Dylan Mcbee, Karim Kozhaya, Li Wang, Douglas D Koch, Allison J Chen, Mitchell P Weikert

Faculty, Staff and Students Publications

Purpose: To evaluate the correlation between the preoperative vertex-scleral spur angle (Vtx-SSA) and postoperative horizontal intraocular lens (IOL) tilt after routine cataract surgery.

Setting: Cullen Eye Institute, Baylor College of Medicine, Houston, Texas.

Design: Prospective case series.

Methods: This study enrolled patients who underwent uneventful phacoemulsification cataract extraction with IOL implantation. The Anterion and Eyestar 900 swept-source optical coherence tomographers (SS-OCTs) were used to determine Vtx-SSA and lens tilt (crystalline and IOL) measurements, respectively. Tilt vectors were decomposed into orthogonal, vertical, and horizontal components to explore preoperative correlations independently. The Pearson correlation coefficient and linear regression analysis were used to …

Myocardial T1 And T2 Values Are Associated With Patient Age In Healthy Pediatric Heart Transplant Recipients, Andrew A Lawson, Robyn G Lottes, Defne Magnetta, Andrada Popescu, Kae Watanabe, Cynthia K Rigsby, Michael Markl, Nazia Husain

Faculty, Staff and Students Publications

Background: In pediatric heart transplant recipients (PHTR), myocardial T1 and T2 values are elevated in the setting of acute rejection and with cardiac allograft vasculopathy. In normal, healthy children, T1 and T2 values vary with patient age. Our goal was to identify associations between T1, extracellular volume fraction (ECV), and T2 values and patient- and donor-characteristics in PHTR without history of significant graft pathology.

Methods: We performed a single-center, retrospective chart review of consecutive cardiac magnetic resonance (CMR) studies in PHTR from 2017 to 2023. Exclusion criteria were a prior CMR during the study period, history of any prior antibody-mediated …

Understanding And Enhancing Suicide Prevention Strategies In The Military: The Roles Of Culture, Leadership, And Command Climate, Kelly Johanna Pires

Dissertations

Military service members are shaped and molded to fit a military culture that emphasizes mission readiness and continuous preparedness. Countless hours are spent training for various situations that can arise. Many trainings are geared toward worst-case scenarios that can cause an increase in stressors and traumatic events. They are expected to demonstrate resilience and overcome adversity to remain mission-ready. This expectation to be mission-ready creates the space for mental health difficulties as well as stigma and avoidance of help-seeking behaviors. In many cases, the desire to stay mission-ready creates a barrier for conversations around mental health. The military emphasizes qualities …

Addressing Mental Health Issues And The Effectiveness Of Cognitive Behavioral Therapy And Mindfulness-Based Interventions Among Athletes, Shelby Jones-Stachnik

Dissertations

This literature review identifies mental health concerns among competitive athletes and evaluates psychological interventions to address these challenges. Specifically, the review explores the mental health concerns experienced by athletes engaged in high-level sport. It examines whether cognitive behavioral therapy and mindfulness-based interventions are effective approaches for improving psychological outcomes in this population. A systematic review of peer-reviewed research was conducted, and findings were synthesized to evaluate the effectiveness of cognitive behavioral therapy and mindfulness-based interventions. The review included randomized controlled trials, quasi-experimental studies, and meta-analyses examining psychological interventions in athletic populations. Findings across the literature indicate that both cognitive behavioral …

Diverse Families Navigating Mental Health At The Pediatrician’S Office: A Mixed Methods Exploration Of The Interplay Of Stress, Culture, And Child Mental Health In The Primary Care Setting, Sara B. Budowsky

Dissertations

Low-income and ethnic minority youth experience high psychiatric need but persistently low participation in traditional mental health care. General pediatricians are often the first and only healthcare providers with whom many families engage around their child’s emotional and behavioral development. Using both quantitative analysis of retrospective secondary data and Interpretative Phenomenological Analysis (IPA) of in-depth interviews with diverse caregivers, this project explored influencers of child mental health and family utilization of pediatric primary-care-based mental health services in the context of a uniquely multicultural clinic serving a predominantly Medicaid population. Three key findings include: 1) Caregiver Stress was a highly significant, …

Corrigendum To Diagnosis Of Post-Hematopoietic Stem Cell Transplant Bronchiolitis Obliterans Syndrome In Children: Time For A Rethink? Transplantation And Cellular Therapy. 2024 Aug; 30(8):760–769, Shivanthan Shanthikumar, William A Gower, Kenneth R Cooke, Anne Bergeron, Kirk R Schultz, Amisha Barochia, Maximiliano Tamae-Kakazu, Edward Charbek, Erin E Reardon, Charlotte Calvo, Alicia Casey, Pi Chun Cheng, Theresa S Cole, Stella M Davies, Shailendra Das, Aliva De, Robin R Deterding, Deborah R Liptzin, Francoise Mechinaud, Jonathan H Rayment, Paul D Robinson, Roopa Siddiah, Anne Stone, Saumini Srinivasin, Christopher T Towe, Gregory A Yanik, Narayan P Iyer, Samuel B Goldfarb

Faculty, Staff and Students Publications

No abstract provided.

A Randomized Double-Masked Study Evaluating Safety And Efficacy Of A Novel Topical Cooling Device For Chronic Ocular Surface Pain, Anat Galor, Christopher Rapuano, Alice Epitropoulos, Jayne Weiss, Stephen Pflugfelder, Preeya Gupta, Deepinder Dhaliwal, Laura Periman, Bonnie An Henderson, Thanh T Nguyen, Chameen Samarawickrama, Helen Wu, Tomasz Stryjewski, James A Stefater, Mark Hinds, Pooja Bhindi, Cristos Ifantides

Faculty, Staff and Students Publications

Introduction: No therapy is currently FDA approved to treat ocular pain. This study evaluated the safety and efficacy of a novel topical ocular cooling device for chronic ocular surface pain (COSP).

Methods: This was a prospective, randomized, double-masked, multicenter clinical feasibility study in adults aged 22-90 years with COSP. The intervention was a handheld device that applied cold temperatures to the conjunctival surface above the long ciliary nerves via two metallic contact surfaces at the 3 and 9 o'clock positions. Subjects were randomized 2:1 to a one-time, 4-min treatment with the active (frozen) or sham (refrigerated) device and followed for …

Matching-Adjusted Indirect Comparison Of Acoltremon Ophthalmic Solution 0.003% And Cyclosporine 0.05% Ophthalmic Emulsion For Increased Tear Production In Patients With Dry Eye Disease, Stephen Pflugfelder, Tony Okoro, Margaret Ainslie-Garcia, Anja Haltner, Emily K Prentiss, Elizabeth M Salvo-Halloran, Nikethana Srikanth, Michelle Senchyna, Esen K Akpek

Faculty, Staff and Students Publications

No abstract provided.

Mitigating Disparities In Diagnosis Of Dementia, Lycia Tramujas Vasconcellos Neumann, Simin Mahinrad, Erin L. Abner, Soo Borson, Goldie S. Byrd, Maria Carrillo, Lindsay Clark, Anthony N. Correro Ii, Kacie D. Deters, Gladys E. Maestre

School of Medicine Publications

The field of Alzheimer's disease and related dementias (AD/ADRD) is undergoing a transformative shift with a better understanding of disease biology, biomarker-based diagnostics, and disease-modifying therapies. Yet, these advancements risk exacerbating existing disparities in diagnosis and care. The 2024 Alzheimer's Association International Conference (AAIC) Advancements: Exploring Equity in Diagnosis convened interdisciplinary experts to address these inequities and chart a path toward population-generalizable research and practice. This article synthesizes key insights from the conference, highlighting considerations for inclusive and representative research design, ethical approaches in diagnostic disclosure, as well as challenges and solutions at individual, community, and systemic levels to advance …

Extracorporeal Membrane Oxygenation, Acute Kidney Injury, Fluid Balance, And Continuous Renal Replacement Therapy: Acute Disease Quality Initiative (Adqi) And Extracorporeal Life Support Organization (Elso) Joint Consensus Conference, Katja M Gist, David T Selewski, Kianoush B Kashani, Ayse Akcan-Arikan, Gail Annich, Marta V Antonini, David Askenazi, Linda Awdishu, Brian C Bridges, Michael J Connor, Lui G Forni, Dana Y Fuhrman, Stuart L Goldstein, Stephen M Gorga, Pramod K Guru, Ahmad Kaddourah, Alex Lepage-Farrell, D Michael Mcmullan, Ravindra L Mehta, Shina Menon, Theresa Mottes, Thomas Müeller, Marlies Ostermann, Matthew L Paden, Natalie E Rintoul, Thiago Reis, Claudio Ronco, Emily See, Gurmeet Singh, Sean M Bagshaw, Graeme Maclaren

Faculty, Staff and Students Publications

Extracorporeal membrane oxygenation (ECMO) is increasingly being utilized for life-threatening cardiac and/or respiratory failure refractory to conventional treatment. Acute kidney injury (AKI) and fluid balance disorders commonly occur both before and during ECMO, with approximately half of cases receiving treatment with continuous renal replacement therapy (CRRT). Acute kidney injury, fluid balance disorders, and CRRT influence both short- and long-term outcomes in this population. The 36th Acute Disease Quality Initiative (ADQI) meeting was held in June 2025 to develop multidisciplinary international expert recommendations for AKI, fluid balance, and CRRT during ECMO across the age spectrum. This work encompassed five working groups: …

How To … Coach Problem Representation To Strengthen Diagnostic Reasoning In Trainees, Cody Clary, Adam Cohen, Satid Thammasitboon

Faculty, Staff and Students Publications

Problem representation (PR) is a concise synthesis of clinical information that captures the core diagnostic problem in a single statement, often referred to as a 'one-liner'. Although central to diagnostic reasoning, this skill is frequently underdeveloped in medical training. Many trainees struggle to transform clinical data into meaningful representations, which can hinder communication, diagnostic reasoning and patient safety. The Assessment of Reasoning Tool-Reconstructed (ART-R) provides a structured framework that educators can adapt as a coaching rubric to strengthen PR during clinical teaching. Using the ART-R, faculty can guide trainees to refine their PR by focusing on three elements: (1) clarity …

Systematic Identification Of Cell-Cell Interactions Associated With The Severity Of Patients With Alzheimer’S Disease, Zijian Zhang, Naail Chowdhury, Jing Dong, Lang Wu, Chao Cheng

Faculty, Staff and Students Publications

Background

Alzheimer's disease (AD) is a complex, multifactorial neurodegenerative disorder involving dysfunction across multiple brain regions. While accumulating evidence has implicated the roles of diverse cell types, including neurons, glia, and vascular cells in AD pathogenesis, it is still poorly understood how cell type interactions drive or respond to the disease progression and severity.

Objective

This study aimed to systematically characterize cell-type–specific alterations and intercellular communication changes associated with AD progression.

Methods

We leveraged the transcriptome profiling and a previously established statistical framework to present a comprehensive mapping of the cellular interaction landscape in the human brain of AD.

Results …

Anterior Cutaneous Nerve Entrapment Syndrome From Glucagon-Like Peptide-1 Receptor Agonist Injection, Neha Singh, Elisa Chaparro, Jordan Michael Shapiro, Emanuel Narcis Husu

Faculty, Staff and Students Publications

Anterior cutaneous nerve entrapment syndrome (ACNES) is an underdiagnosed cause of abdominal pain. We report the first documented ACNES case following subcutaneous administration of glucagon-like peptide-1 receptor agonist. A 44-year-old man developed focal, neuropathic abdominal pain coinciding with initiation of tirzepatide injections. Clinical examination confirmed ACNES diagnosis, and pain improved after relocating injections away from the abdomen and initiating multimodal pharmacotherapy. This case emphasizes the need to consider ACNES in patients endorsing focal abdominal pain with concurrent use of glucagon-like peptide-1 therapy and highlights injection site modification as a simple, effective management strategy while exercising self-restraint with respect to workup.

Whole Genome Sequencing Analysis Of Over 3500 Individuals Dementia-Free Over 85 Years Old, Gina M Peloso, Dongyu Wang, Sabrina M Abbruzzese, Joshua C Bis, Seung Hoan Choi, Alexa Beiser, Jan Bressler, Josée Dupuis, Alison E Fohner, Mohsen Ghanbari, Richard A Gibbs, Nancy Heard-Costa, M Arfan Ikram, Paul Lacaze, Quentin Le Grand, Oscar L Lopez, Thomas H Mosley, Moeen Riaz, Aïcha Soumaré, Amber Yaqub, Eric Boerwinkle, Bruce M Psaty, Myriam Fornage, Sudha Seshadri, Anita L Destefano

Faculty, Staff and Students Publications

BACKGROUND:

Identifying genetic variants conferring resilience to Alzheimer’s disease and related dementia (ADRD) may hold promise for developing therapeutics.

OBJECTIVE:

To determine genetic associations with being dementia-free at age 85 (DF85).

METHODS:

We examined genetic associations, using whole genome sequencing data, with DF85 in three Trans-Omics for Precision Medicine cohorts and the Alzheimer’s Disease Sequencing Project Phenotype Harmonization Consortium. We tested common variants individually and aggregation of rare (MAF≤1%) coding and non-coding variants in DF85 participants (n=3,657) against individuals who were not DF85 (n=20,010). We verified associations using a stricter control set who developed dementia before age 85 (n=5,552).

RESULTS: …

Structural Determinants Of Ligand Response Specificity In The Mast Cell Activating Gpcr, Mrgprx2, Abiodun Adefola R Adeosun, Melina A Agosto, Olivier Lichtarge, Theodore G Wensel

Faculty, Staff and Students Publications

The mast cell-specific G-protein-coupled receptor (GPCR) MRGPRX2 (Mas-Related G Protein-coupled Receptor X2) has roles in itch and pain, and it mediates clinically relevant allergy-like responses to a diverse assortment of drugs. The varied responses of individuals to MRGPRX2 agonists, leading to drug hypersensitivity reactions in some cases, suggests the presence of consequential variants in the population. However, genetic associations with drug responses are poorly understood. We used heterologously-expressed MRGPRX2 to investigate the effect of 18 naturally occurring non-synonymous single nucleotide polymorphisms on activation by representative compounds from several classes, including neuropeptides, opioid agonists, antibiotics, neuromuscular blocking agents, and polycationic aromatic …

Author Correction: Biallelic Variants In The Noncoding Rna Gene Rnu4-2 Cause A Recessive Neurodevelopmental Syndrome With Distinct White Matter Changes, Rocio Rius, Alexander J M Blakes, Yuyang Chen, Joachim De Jonghe, François Lecoquierre, Ruebena Dawes, Benjamin Cogne, Hyung Chul Kim, Javeria R Alvi, Florence Amblard, Morad Ansari, Annabelle Arlt, Christina Austin-Tse, Sarah Baer, Meena Balasubramanian, Elsa V Balton, Giulia Barcia, Ana Beleza-Meireles, Jonathan A Bernstein, Jasmin Beygo, Pierre Blanc, Nuria C Bramswig, Frederik Braun, Daniel Buchzik, Daniel G Calame, Jamie Campbell, Charles Coutton, Chloe A Cunningham, Nitsuh Dargie, Christel Depienne, Katrina M Dipple, Anne Dieux, Abhijit Dixit, Lauren Dreyer, Haowei Du, Salima El Chehadeh, Michael Field, Lisa J Ewans, Vanessa Geiger, Richard A Gibbs, Ian Glass, Olivier Grunewald, Paul Gueguen, Tobias B Haack, Hamza Hadj Abdallah, Radu Harbuz, Ingo Helbig, Judit Horvath, Alexander Hustinx, Bertrand Isidor, Marie-Line Jacquemont, Fraser Jamie, Médéric Jeanne, Riley Kessler, Hannah Klinkhammer, G Christoph Korenke, Urania Kotzaeridou, Peter Krawitz, Steven Laurie, Richard J Leventer, Rebecca J Levy, James R Lupski, Pierre Marijon, Kaitlin E Mcginnis, Rodrigo Mendez, Olfa Messaoud, Caroline Nava, Mevyn Nizard, Anne O'Donnell-Luria, Melanie C O'Leary, Simone Olivieri, Amitav Parida, Davut Pehlivan, Anna Jenne Prentice, Jennifer E Posey, Chloe M Reuter, Véronique Satre, Caroline Schluth-Bolard, Thomas Smol, Tipu Sultan, John Taylor, Christel Thauvin-Robinet, Julien Thevenon, Eloise Uebergang, Sandra Ueberberg, Catherine Vincent-Delorme, Evangeline Wassmer, Emma Westwood, Matthew T Wheeler, Elif Yilmaz Gulec, Adeline Vanderver, Arastoo Vossough, Stephan J Sanders, Siddharth Banka, Gregory M Findlay, Daniel G Macarthur, Cas Simons, Nicola Whiffin

Faculty, Staff and Students Publications

No abstract provided.