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Full-Text Articles in Medicine and Health Sciences

High-Grade Astrocytoma With Piloid Features: A Clinical And Genomic Analysis Of Prognostic Factors Using A Large Cohort, Shuodan Zhang, Omar H Butt, Sonika Dahiya, Et Al. Oct 2026

High-Grade Astrocytoma With Piloid Features: A Clinical And Genomic Analysis Of Prognostic Factors Using A Large Cohort, Shuodan Zhang, Omar H Butt, Sonika Dahiya, Et Al.

2020-Current year OA Pubs

BACKGROUND: High-grade astrocytoma with piloid features (HGAP) is a recently defined tumor type that is not well understood. Prognostic factors of clinical outcomes are not well established.

METHODS: Methylation profiling was performed on tumor samples, many at the National Cancer Institute (NCI) Laboratory of Pathology, and others from publicly available sources. Methylation classifier scores of ≥0.90 to the HGAP class on the NCI-Bethesda classifier version 3 were included. Clinical features were collected from the medical record. Survival analyses were performed using the Kaplan-Meier and Cox-proportional hazards methods.

RESULTS: The cohort comprised 421 patients. There were high rates of ATRX alteration …


Unveiling Functional-Metabolic Synergy In The Healthy Brain: Multivariate Integration Of Dynamic [18f]Fdg-Pet And Resting-State Fmri, Claudia Tarricone, Giulia Vallini, Giorgia Baron, Massimiliano Facca, Erica Silvestri, Tommaso Volpi, Andrei G Vlassenko, Manu S Goyal, Alessandra Bertoldo Oct 2026

Unveiling Functional-Metabolic Synergy In The Healthy Brain: Multivariate Integration Of Dynamic [18f]Fdg-Pet And Resting-State Fmri, Claudia Tarricone, Giulia Vallini, Giorgia Baron, Massimiliano Facca, Erica Silvestri, Tommaso Volpi, Andrei G Vlassenko, Manu S Goyal, Alessandra Bertoldo

2020-Current year OA Pubs

Despite accounting for only 2% of body weight, the human brain requires significant amounts of glucose, even at rest, underscoring the importance of functional-metabolic relationships. Previous studies revealed moderate associations between resting-state fMRI functional connectivity (FC) and local metabolism via [


Emergency Medicine Updates: The Physiologically Difficult Airway, Aaron J Lacy, Brit Long, Michael Gottlieb, Jarrod M Mosier Oct 2026

Emergency Medicine Updates: The Physiologically Difficult Airway, Aaron J Lacy, Brit Long, Michael Gottlieb, Jarrod M Mosier

2020-Current year OA Pubs

INTRODUCTION: Airway management is an integral skill for emergency clinicians. While most of the focus is often on anatomic challenges, clinicians must also consider the unique physiologic challenges that risk decompensation during airway management, often termed the physiologically difficult airway.

OBJECTIVE: This paper evaluates key evidence-based updates concerning management of the physiologically difficult airway for the emergency clinician.

DISCUSSION: Peri-intubation complications in the emergency department are often driven by physiologic instability rather than anatomic difficulty. Key phenotypes of the physiologically difficult airway include hypotension, hypoxemia, metabolic acidemia, and right ventricular dysfunction, and are associated with high rates of physiologic collapse …


Cannabis Retailers' Marketing Practices And Compliance With State Regulations: A 2025 Point-Of-Sale Audit In 5 U.S. Cities, Carla J Berg, Cassidy R Loparco, Matthew E Rossheim, Morgan B Speer, Elizabeth Platt, Caitlin Davie, Hermela Amdeta, Darby Mihelich, Diane M Ndisebuye, Yuxian Cui, Patricia A Cavazos-Rehg, Y Tony Yang, Scott Burris Oct 2026

Cannabis Retailers' Marketing Practices And Compliance With State Regulations: A 2025 Point-Of-Sale Audit In 5 U.S. Cities, Carla J Berg, Cassidy R Loparco, Matthew E Rossheim, Morgan B Speer, Elizabeth Platt, Caitlin Davie, Hermela Amdeta, Darby Mihelich, Diane M Ndisebuye, Yuxian Cui, Patricia A Cavazos-Rehg, Y Tony Yang, Scott Burris

2020-Current year OA Pubs

Cannabis retail surveillance is crucial to inform regulations and enforcement efforts. This point-of-sale audit study examined marketing practices and compliance with age verification rules, required signage, and marketing restrictions among 161 cannabis retailers in 5 US cities in states authorizing nonmedical cannabis retail (Los Angeles [LA], California; Las Vegas [LV], Nevada; Denver, Colorado; Portland, Oregon; Seattle, Washington) in summer 2025. Descriptive and bivariate analyses characterized retailers overall and across cities. Overall, 84.5 % of retailers requested age verification upon entry (range: Seattle = 43.3 % to LV = 100 %); 8.1 % never verified (range: LV/Denver = 0 % to …


Ceftaroline Pharmacokinetics On Ecmo, A Pediatric Case Report., Kathryn Pavia, Ashton Bellamy, Alaina Burns, Allison Scott, Ethan A. Poweleit Oct 2026

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 …


Ambulatory Blood Pressure Thresholds And Left Ventricular Hypertrophy In Children Aged 6-12 Years: A Pediatric Nephrology Research Consortium Study., Afsana Jahan, Matthew Schuchman, Mahie Abdullah, Meghan Mclaughlin, Emilia Maria Cadiz, Eshanika Manchanda, Aftab Chishti, Maggie Murphy, Sarah Twichell, Alexandra Mazo, Dmitry Samsonov, Aesha Maniar, Hannah Kim, Francis Lomanta, Ashok Chakravarthy Patibandla, Rachel Frank, Tarak Srivastava, Ikuyo Yamaguchi, Christine Sethna Oct 2026

Ambulatory Blood Pressure Thresholds And Left Ventricular Hypertrophy In Children Aged 6-12 Years: A Pediatric Nephrology Research Consortium Study., Afsana Jahan, Matthew Schuchman, Mahie Abdullah, Meghan Mclaughlin, Emilia Maria Cadiz, Eshanika Manchanda, Aftab Chishti, Maggie Murphy, Sarah Twichell, Alexandra Mazo, Dmitry Samsonov, Aesha Maniar, Hannah Kim, Francis Lomanta, Ashok Chakravarthy Patibandla, Rachel Frank, Tarak Srivastava, Ikuyo Yamaguchi, Christine Sethna

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To evaluate the diagnostic performance of ambulatory blood pressure monitoring (ABPM) thresholds for predicting left ventricular hypertrophy (LVH) in children aged 6-12 years.

STUDY DESIGN: A retrospective, multicenter study was conducted across 11 Pediatric Nephrology Research Consortium sites and included children aged 6-12 years who underwent ABPM and 2-dimensional echocardiography for diagnostic assessment of elevated BP. The diagnostic accuracy of fixed ABPM thresholds and the current 95th percentile for sex and height were assessed using area under the receiver operating characteristic, sensitivity, specificity, and Youden index. Multivariable logistic regression models, adjusted for age, sex, and body mass index z-score, …


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 Oct 2026

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 …


Social Responsiveness As A Mediator In Adapted Cognitive Behavioral Therapy For Autistic Youth With Maladaptive And Interfering Anxiety, Jeffrey J Wood, Eric A Storch, Katherine Sung, Karen S Wood, Philip C Kendall Oct 2026

Social Responsiveness As A Mediator In Adapted Cognitive Behavioral Therapy For Autistic Youth With Maladaptive And Interfering Anxiety, Jeffrey J Wood, Eric A Storch, Katherine Sung, Karen S Wood, Philip C Kendall

Faculty, Staff and Students Publications

Numerous adaptations to interventions have been included in cognitive behavioral therapy (CBT) for autistic youth. This study examines the degree to which CBT adapted to the social needs of autistic youth confers significant benefit by promoting social responsiveness. A secondary analysis was conducted on a multisite randomized clinical trial (Wood et al. in JAMA Psychiatry 77:474-483, 2020) comparing adapted CBT with standard-of-practice CBT and treatment-as-usual (TA). Autistic youth (N = 167; aged 7-13) with maladaptive and interfering anxiety participated. The adapted CBT (BIACA) uses a modular format, with an emphasis on supplementing common CBT practice elements (reframing and graded exposure) …


Efficacy And Safety Of Frail Patients Treated With Ciltacabtagene Autoleucel In The Real World: A Center For International Blood And Marrow Transplant Research Analysis., Hira Mian, Muhammad Salman Faisal, Tiening Chen, Ruta Brazauskas, Temitope Oloyede, Nausheen Ahmed, Aimaz Afrough, Larry D Anderson, Rahul Banerjee, Jesus Berdeja, Aram Bidikian, Jakob Devos, Binod Dhakal, Ajoy Dias, Danai Dima, Yvonne A Efebera, Lohith Gowda, Doris K Hansen, Hamza Hashmi, Heather J Landau, Lazaros Lekakis, Abu-Sayeef Mirza, Ravi Narra, Krina Patel, Ashley E Rosko, Mark Schroeder, Surbhi Sidana, Saad Usmani, Marcelo C Pasquini, Taiga Nishihori, Othman Salim Akhtar, Meera Mohan Oct 2026

Efficacy And Safety Of Frail Patients Treated With Ciltacabtagene Autoleucel In The Real World: A Center For International Blood And Marrow Transplant Research Analysis., Hira Mian, Muhammad Salman Faisal, Tiening Chen, Ruta Brazauskas, Temitope Oloyede, Nausheen Ahmed, Aimaz Afrough, Larry D Anderson, Rahul Banerjee, Jesus Berdeja, Aram Bidikian, Jakob Devos, Binod Dhakal, Ajoy Dias, Danai Dima, Yvonne A Efebera, Lohith Gowda, Doris K Hansen, Hamza Hashmi, Heather J Landau, Lazaros Lekakis, Abu-Sayeef Mirza, Ravi Narra, Krina Patel, Ashley E Rosko, Mark Schroeder, Surbhi Sidana, Saad Usmani, Marcelo C Pasquini, Taiga Nishihori, Othman Salim Akhtar, Meera Mohan

Oncology Articles

Background: Ciltacabtagene autoleucel (cilta-cel), an anti-B-cell maturation antigen (BCMA) chimeric antigen receptor T-cell (CAR-T) therapy, is approved for relapsed/refractory multiple myeloma (RRMM).

Methods: Using the Center for International Blood and Marrow Transplant Research registry, this study evaluated outcomes of frail patients receiving commercial cilta-cel from March 2022 to December 2023. Frailty was defined by an adapted simplified score incorporating age, performance status, and comorbidities.

Results: Among 541 patients with available frailty status, 183 (33.8%) were frail and 358 (66.2%) were nonfrail. Overall response rates were comparable (frail 82.8% vs. nonfrail 88.5%). However, frail patients had inferior progression-free survival (PFS) (12-month …


Training Apart, Together: Team Dynamics In Individual Sports And Surgical Residency, W. Jack Palmer, Dylan Bertoni, Elizabeth E. Cottrill, Colin T. Huntley Oct 2026

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 …


The Epidemiology Of Kidney And Urinary Tract Infections In Pediatric Chronic Kidney Disease: Prevalence, Risk Factors And Association With Gfr Decline In The Chronic Kidney Disease In Children Study., Derek K. Ng, Andrea R. Molino, Siyao Zhang, Emily J. Stonebrook, Craig S. Wong, Pratyush Gyawali, Kimberly J. Reidy, Susan L. Furth, Bradley A. Warady, Jeffrey J. Fadrowski, Ckid Study Investigators Oct 2026

The Epidemiology Of Kidney And Urinary Tract Infections In Pediatric Chronic Kidney Disease: Prevalence, Risk Factors And Association With Gfr Decline In The Chronic Kidney Disease In Children Study., Derek K. Ng, Andrea R. Molino, Siyao Zhang, Emily J. Stonebrook, Craig S. Wong, Pratyush Gyawali, Kimberly J. Reidy, Susan L. Furth, Bradley A. Warady, Jeffrey J. Fadrowski, Ckid Study Investigators

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Urinary tract and kidney infections are potential complications in pediatric chronic kidney disease (CKD), especially among patients with congenital anomalies of the kidney and urinary tract (CAKUT). We characterized the prevalence of self-reported infections from childhood through young adulthood; evaluated risk factors; and quantified the association with CKD progression.

METHODS: Infections in the past year were self-reported at annual Chronic Kidney Disease in Children (CKiD) study visits. Age-specific infection prevalences were stratified by sex and CKD diagnoses (glomerular, non-glomerular non-CAKUT, CAKUT low-risk for infections, and three CAKUT high-risk categories: reflux nephropathy, obstructive uropathy, and other high-risk). Repeated measures logistic …


Peritoneal Dialysis Catheter Complications In Neonates With Kidney Failure., Shannon Reinert, Maanasa Yarlagadda, Alexander Bondoc, Donna Claes, Stefanie Riddle, Meredith P. Schuh Oct 2026

Peritoneal Dialysis Catheter Complications In Neonates With Kidney Failure., Shannon Reinert, Maanasa Yarlagadda, Alexander Bondoc, Donna Claes, Stefanie Riddle, Meredith P. Schuh

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Neonates with kidney failure require placement of a peritoneal dialysis catheter (PD-C) shortly after birth. PD-C malfunction and peritonitis, both common in this population, are associated with PD failure. The aim of this study was to describe our center's PD-C-related practices and outcomes in neonates with kidney failure.

METHODS: We performed a retrospective chart review of neonates who required kidney replacement therapy (KRT) within the first 30 days of life from 01/2018-12/2023. We evaluated for PD-C duration, PD-C replacement or revision, and peritonitis.

RESULTS: Twenty-four neonates had PD-C placed for chronic dialysis at a median of 9.7 days and …


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 Oct 2026

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 …


Evaluating Large-Scale Propensity Score Adjustment When Sample Size Is Small, Fleur Vereijken, Jenna M Reps, Marc A Suchard, Linying Zhang, George Hripcsak, Peter R Rijnbeek, Ross D Williams, Martijn J Schuemie Oct 2026

Evaluating Large-Scale Propensity Score Adjustment When Sample Size Is Small, Fleur Vereijken, Jenna M Reps, Marc A Suchard, Linying Zhang, George Hripcsak, Peter R Rijnbeek, Ross D Williams, Martijn J Schuemie

2020-Current year OA Pubs

BACKGROUND: Large-scale propensity score (LSPS) models are increasingly used to control confounding in observational studies, but their reliability in small-sample settings is unclear. Small samples can limit a study's ability to estimate propensity scores accurately and achieve adequate covariate balance, raising concerns about insufficient confounding adjustment. Resulting in small datasets being excluded, despite potentially containing valid information.

METHODS: We evaluated the balancing and bias reduction performance of LSPS models using six target-comparator pairs. To emulate a distributed data network analysis setting, we partitioned two large real-world data sources into smaller subsets. Within each subset, LSPS models were fit locally 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 Oct 2026

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 …


Nlgn3 Autism Variants Have Distinct Functional Impact On Synapses And Sleep Behavior In Drosophila, Rebekah E Townsley, Jonathan C Andrews, Saurabh Srivastav, Sharayu V Jangam, Shabab B Hannan, Oguz Kanca, Paul C Marcogliese, Shinya Yamamoto, Michael F Wangler Oct 2026

Nlgn3 Autism Variants Have Distinct Functional Impact On Synapses And Sleep Behavior In Drosophila, Rebekah E Townsley, Jonathan C Andrews, Saurabh Srivastav, Sharayu V Jangam, Shabab B Hannan, Oguz Kanca, Paul C Marcogliese, Shinya Yamamoto, Michael F Wangler

Faculty, Staff and Students Publications

Neuroligin-3 (NLGN3) was first identified as a X-linked risk gene associated with autism spectrum disorder (ASD). Most reported variants are identified in males who inherited their variants from an unaffected mother, but de novo variants have also been identified in both affected heterozygous females and hemizygous males. The p.R451C variant was the initial variant associating NLGN3 with ASD and has been heavily investigated, yet little is known about the functional consequences of other NLGN3 variants. To determine the functional consequences of other NLGN3 variants in vivo, we generated transgenic Drosophila models corresponding to a de novo variant (p.R175W) identified in …


A Spatial Atlas Of Muscle-Invasive Bladder Cancer Reveals Lineage-Specific Vulnerabilities And Immune Architecture, Kai Yu, Jianfeng Chen, Yu-Yi Chu, Sajith Nair, Emanuele Crupi, Elshad Hasanov, Ying Mei, Xueshuai Han, Yang Liu, Yunhe Liu, Guangsheng Pei, Fuduan Peng, Jianlong Liao, Enyu Dai, Tian Chu, Kyung Serk Cho, Jiahui Jiang, Xinmiao Yan, Yibo Dai, Jun Wang, Baifeng Zhang, Giannicola Genovese, Nagireddy Putluri, Livia Eberlin, Liuqing Yang, Chunru Lin, Lawrence N Kwong, Diana Shamsutdinova, Khalida M Wani, Bogdan A Czerniak, Wendong Yu, Jianping Zhao, Charles C Guo, Donna Hansel, Curtis Pettaway, Louis Pisters, Kelly Bree, Neema Navai, Byron H Lee, Ashish M Kamat, Padmanee Sharma, Paul Corn, Cindy Y Jiang, Amishi Y Shah, Omar Alhalabi, Pavlos Msaouel, Arlene O Siefker-Radtke, Christopher J Logothetis, Matthew T Campbell, Alexander J Lazar, Jianjun Gao, Linghua Wang Oct 2026

A Spatial Atlas Of Muscle-Invasive Bladder Cancer Reveals Lineage-Specific Vulnerabilities And Immune Architecture, Kai Yu, Jianfeng Chen, Yu-Yi Chu, Sajith Nair, Emanuele Crupi, Elshad Hasanov, Ying Mei, Xueshuai Han, Yang Liu, Yunhe Liu, Guangsheng Pei, Fuduan Peng, Jianlong Liao, Enyu Dai, Tian Chu, Kyung Serk Cho, Jiahui Jiang, Xinmiao Yan, Yibo Dai, Jun Wang, Baifeng Zhang, Giannicola Genovese, Nagireddy Putluri, Livia Eberlin, Liuqing Yang, Chunru Lin, Lawrence N Kwong, Diana Shamsutdinova, Khalida M Wani, Bogdan A Czerniak, Wendong Yu, Jianping Zhao, Charles C Guo, Donna Hansel, Curtis Pettaway, Louis Pisters, Kelly Bree, Neema Navai, Byron H Lee, Ashish M Kamat, Padmanee Sharma, Paul Corn, Cindy Y Jiang, Amishi Y Shah, Omar Alhalabi, Pavlos Msaouel, Arlene O Siefker-Radtke, Christopher J Logothetis, Matthew T Campbell, Alexander J Lazar, Jianjun Gao, Linghua Wang

Faculty, Staff and Students Publications

Muscle-invasive bladder cancer (MIBC) is clinically heterogeneous, and current molecular subtyping does not capture the spatial organization of tumor states and microenvironmental context. In this study, we construct a spatial atlas of MIBC by integrating spatial transcriptomics from 22 tumors with matched bulk RNA and whole-exome sequencing data. We identify a continuous, spatially organized luminal-to-basal axis within individual tumors that is associated with greater chromosomal instability and transcriptional plasticity. Luminal tumor cores are enriched for FGFR3 and NECTIN4, whereas basal-like states localize toward invasive margins and are associated with elevated EGFR signaling, epithelial-mesenchymal transition, genomic instability, immune infiltration, and greater …


Spell: A Scalable Nlp Method Using Regular Expressions And Large Language Models For Clinical Information Extraction, Ricardo Kleinlein, David W Bates, Carolyn Guan, Kathryn J Gray, Vesela P Kovacheva Oct 2026

Spell: A Scalable Nlp Method Using Regular Expressions And Large Language Models For Clinical Information Extraction, Ricardo Kleinlein, David W Bates, Carolyn Guan, Kathryn J Gray, Vesela P Kovacheva

Faculty, Staff and Students Publications

Background and objectives: Electronic health records (EHRs) contain valuable information for research and decision-making, but much resides in unstructured notes that are challenging to analyze at scale. We developed SPELL (Snippet-Primed rEgex LLM Pipeline), a scalable natural language processing workflow that combines regular-expression-based snippet retrieval with locally hosted large language model (LLM) inference to extract structured variables from large collections of clinical narratives.

Methods: SPELL uses task-specific regular expressions to retrieve short context windows ("snippets") from unstructured texts and applies task-prompted LLM inference on snippets rather than full documents. All processing occurs within institutional computing environments. Accuracy was evaluated on …


Engagement And Weight Change In An Online Weight Management Program In Clinical Settings: An Implementation Project, Heather J Baer, Joann Cho, Richard Fay, Caroline M Apovian, Ashley C Mccarthy, Alexander J Blood, Lipika Samal, Naomi D L Fisher, E John Orav, Matthew Wien, Jorge Plutzky, Jason P Block, David W Bates, Ronen Rozenblum, Michela Tucci, Marian Mcpartlin, Michael Oates, Katherine D Mcmanus, Benjamin M Scirica Oct 2026

Engagement And Weight Change In An Online Weight Management Program In Clinical Settings: An Implementation Project, Heather J Baer, Joann Cho, Richard Fay, Caroline M Apovian, Ashley C Mccarthy, Alexander J Blood, Lipika Samal, Naomi D L Fisher, E John Orav, Matthew Wien, Jorge Plutzky, Jason P Block, David W Bates, Ronen Rozenblum, Michela Tucci, Marian Mcpartlin, Michael Oates, Katherine D Mcmanus, Benjamin M Scirica

Faculty, Staff and Students Publications

Background: There is an urgent need for scalable strategies for treatment of overweight and obesity that can be implemented in clinical settings.

Objective: To implement and evaluate an online weight management program in a large, diverse population of patients.

Design: Clinical implementation project in primary care and specialty clinics.

Participants: Eligible patients were ≥ 20 years old, spoke English or Spanish, and had a body mass index (BMI) of ≥ 30 kg/m2 or a BMI of 25-29.9 kg/m2 plus ≥ 1 cardiovascular risk factor or obesity-related condition.

Intervention: Enrolled patients were encouraged to register for a 12-month digital health program …


A Prospective Natural History Study Protocol For Clinical Trial Readiness In Synaptic Disorders, Jillian L Mckee, Sarah M Ruggiero, Kristin Cunningham, Joeylynn Coyne, Ian Mcsalley, Michael C Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M Orlando, Viveknarayanan Padmanabhan, Alexander K Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie Mccarthy, Jan H Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao-Tuan Chao, Katherine Xiong, Elizabeth Berry-Kravis, Sepideh Tabarestani, J Michael Graglia, Kathryn Helde, Virginie Mcnamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J Boland, Samuel R Pierce, Ingo Helbig Oct 2026

A Prospective Natural History Study Protocol For Clinical Trial Readiness In Synaptic Disorders, Jillian L Mckee, Sarah M Ruggiero, Kristin Cunningham, Joeylynn Coyne, Ian Mcsalley, Michael C Kaufman, Bintou Bane, Torrey Chisari, Jonathan Toib, Carlyn Glatts, Sarah Tefft, Julie M Orlando, Viveknarayanan Padmanabhan, Alexander K Gonzalez, Alicia Harrison, Charlene Woo, Stephanie A Zbikowski, Rency Dhaduk, Johanna Mercurio, Macie Mccarthy, Jan H Magielski, Zachary Grinspan, Megan Abbott, Juliet Knowles, Hsiao-Tuan Chao, Katherine Xiong, Elizabeth Berry-Kravis, Sepideh Tabarestani, J Michael Graglia, Kathryn Helde, Virginie Mcnamar, Charlene Son Rigby, James Goss, Scott Demarest, Andrea Miele, Benjamin Prosser, Michael J Boland, Samuel R Pierce, Ingo Helbig

Faculty, Staff and Students Publications

Objective: STXBP1-related disorder (STXBP1-RD) and SYNGAP1-related disorder (SYNGAP1-RD) are two common genetic synaptopathies that are associated with epilepsy, developmental delay, intellectual developmental disorder, and behavioral problems. Both STXBP1-RD and SYNGAP1-RD are potential targets for disease-modifying therapies, but there is limited information in the literature describing the natural history of either disorder, which impedes outcome selection for future clinical trials. The objective of this study is to develop a framework to better define and outline the clinical spectrum and longitudinal trajectories of STXBP1-RD and SYNGAP1-RD natural history, including development, behavior, seizure histories, and electrophysiology.

Methods: Here, we describe a protocol, regulatory …


A Rare Recurring Gain-Of-Function Variant In Bmpr2 Causes Neurodevelopmental Phenotypes In Humans And Flies, Jung-Wan Mok, Carrie L Welch, Haley A Dostalik, Zhi Tan, Ariel Brautbar, Maria Descartes, Erica T Gray, Alejandro Iglesias, Scott D Mclean, Morgan Nutter, Olivia Daugherty, Amber Begtrup, Ingrid M Wentzensen, Yufeng Shen, Damian W Young, Martin M Matzuk, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Wendy K Chung, Shinya Yamamoto Oct 2026

A Rare Recurring Gain-Of-Function Variant In Bmpr2 Causes Neurodevelopmental Phenotypes In Humans And Flies, Jung-Wan Mok, Carrie L Welch, Haley A Dostalik, Zhi Tan, Ariel Brautbar, Maria Descartes, Erica T Gray, Alejandro Iglesias, Scott D Mclean, Morgan Nutter, Olivia Daugherty, Amber Begtrup, Ingrid M Wentzensen, Yufeng Shen, Damian W Young, Martin M Matzuk, Oguz Kanca, Michael F Wangler, Hugo J Bellen, Wendy K Chung, Shinya Yamamoto

Faculty, Staff and Students Publications

Bone morphogenetic protein receptor type 2 (BMPR2) encodes an evolutionarily conserved serine/threonine kinase that phosphorylates type-1 BMP receptors to mediate intercellular communication upon ligand binding. Loss-of-function variants in BMPR2 are known to cause pulmonary arterial hypertension and other cardiovascular disorders. Here, we report a rare recurrent missense variant in BMPR2 (c.1126G>A [GenBank: NM_001204] [p.Glu376Lys]) identified in six individuals, who all present with neurodevelopmental phenotypes including autism spectrum disorder and global developmental delay. Trio analysis demonstrates de novo occurrence of this variant in at least five of the individuals. Using the fruit fly Drosophila melanogaster, we show that this variant …


A Genetic Risk Variant Associated With The Risk Of Primary Biliary Cholangitis Is Inherited From Neanderthals, Alessio Gerussi, Chiara Caime, Harold Wang, Heather J Cordell, George F Mells, Richard N Sandford, David E Jones, Gideon Hirschfield, Katherine A Siminovitch, M Eric Gershwin, Brian D Juran, Elizabeth J Atkinson, Angela Cheung, Mariza De Andrade, Aris Baras, Konstantinos N Lazaridis, Rosanna Asselta, Pietro Invernizzi, Manuela Sironi, Sriram Sankararaman, Canadian‐Us Pbc Consortium, Uk‐Pbc Consortium, Italian Pbc Genetics Study Group Oct 2026

A Genetic Risk Variant Associated With The Risk Of Primary Biliary Cholangitis Is Inherited From Neanderthals, Alessio Gerussi, Chiara Caime, Harold Wang, Heather J Cordell, George F Mells, Richard N Sandford, David E Jones, Gideon Hirschfield, Katherine A Siminovitch, M Eric Gershwin, Brian D Juran, Elizabeth J Atkinson, Angela Cheung, Mariza De Andrade, Aris Baras, Konstantinos N Lazaridis, Rosanna Asselta, Pietro Invernizzi, Manuela Sironi, Sriram Sankararaman, Canadian‐Us Pbc Consortium, Uk‐Pbc Consortium, Italian Pbc Genetics Study Group

Faculty, Staff and Students Publications

Background: Primary Biliary Cholangitis (PBC) is an autoimmune cholangiopathy with polygenic architecture and unknown aetiology. Evidence links Neanderthal-derived genetic variants to autoimmune conditions; however, their contribution to PBC susceptibility remains unexplored.

Objective: We investigate whether archaic alleles influence PBC risk.

Design: Genotype data from four PBC cohorts were analysed: CANUK (4615 cases, 9233 controls), OLD IT (444 cases, 901 controls), NEW IT (255 cases, 579 controls) and MAYO (891 cases, 621 controls). Association testing with 235 592 Neanderthal Informative Markers (NIMs) was performed, adjusting for population stratification. Heritability was estimated using RHE-mc and temporal haplotype dynamics were assessed using ancient …


Understanding Gender Wage Disparities In Dermatology., Danielle Duffle, Ramiro Rodriguez, Benjamin Brooks, Robert Dellavalle Sep 2026

Understanding Gender Wage Disparities In Dermatology., Danielle Duffle, Ramiro Rodriguez, Benjamin Brooks, Robert Dellavalle

Ambulatory and Primary Care Articles

Differences in compensation between men and women exist, despite having similar experiences. Here, we present data from the Association of American Medical Colleges (AAMC) from 2022 of self-reported compensation rates of academic dermatologists. Women dermatologists comprised 36.95% (75/203) of full professors, 61.54% (152/247) of associate professors, and 63.47% (311/490) of assistant professors; among these, 52.17% (12/23) were service chiefs and 35.48 % (22/62) were department chairs. The data shows that, except for department chairs, women are reporting being paid less relative to men at all academic ranks. Division chiefs had the most significant (45.52%) wage difference (45.52%) between men and …


Agentic Ai For Clinical Outcomes Research, Population Health Management Analyses With Large Administrative Databases, And Generating Epidemiological Estimates Of Diseases: Feasibility And Validation Study, Daniel Frisch, Michael Fronstin, Carla Zema Sep 2026

Agentic Ai For Clinical Outcomes Research, Population Health Management Analyses With Large Administrative Databases, And Generating Epidemiological Estimates Of Diseases: Feasibility And Validation Study, Daniel Frisch, Michael Fronstin, Carla Zema

Division of Cardiology Faculty Papers

BACKGROUND: There is tremendous enthusiasm for the use of AI in health care because of the ability to analyze existing data for preventative, diagnostic, and treatment support. Agentic AI can feasibly provide access to large real-world datasets for the generation of real-world evidence for health care and clinical applications to health care providers, researchers, and administrators without access to large analytic programming resources.

OBJECTIVE: The objective of this study was to understand the feasibility of using agentic AI for clinical outcome research and population health management. Specifically, this study used an agentic AI evidence-generation platform to obtain epidemiological estimates of …


Individual Host Variation In Single-Cell Responses To Enteroaggregative Escherichia Coli Infection Modeled With Human Colon Organoids, Ling Qiu, Tajhal D Patel, Hannah E Jones, Cristian Coarfa, Anthony W Maresso Sep 2026

Individual Host Variation In Single-Cell Responses To Enteroaggregative Escherichia Coli Infection Modeled With Human Colon Organoids, Ling Qiu, Tajhal D Patel, Hannah E Jones, Cristian Coarfa, Anthony W Maresso

Faculty, Staff and Students Publications

Enteroaggregative Escherichia coli (EAEC) is a leading cause of diarrhea worldwide. Interestingly, EAEC disease outcomes vary dramatically among infected individuals, ranging from asymptomatic colonization to acute and chronic diarrhea. While previous research has focused on EAEC virulence factors, emerging evidence suggests that host genetic and cellular background may be equally important in determining disease susceptibility. To understand host-driven disease heterogeneity, we performed single-cell RNA sequencing on human colon organoids (HCOs) derived from three healthy adult donors following EAEC 042 infection. Surprisingly, despite comparable EAEC adherence across donors, we observed striking donor-specific responses to infection at multiple levels. A total of …


Palopegteriparatide For Adults With Chronic Hypoparathyroidism: Skeletal Dynamics Through 3 Years Of The Phase 2 Path Forward Trial, Mishaela Rubin, Bart Clarke, Lorenz Hofbauer, Aliya Khan, Peter Schwarz, Tamara Vokes, Intekhab Ahmed, Andrea Palermo, Filomena Cetani, Uberto Pagotto, Carol Zhao, Michael Ominsky, Bryant Lai, Jenny Ukena, Aimee Shu, Lars Rejnmark Sep 2026

Palopegteriparatide For Adults With Chronic Hypoparathyroidism: Skeletal Dynamics Through 3 Years Of The Phase 2 Path Forward Trial, Mishaela Rubin, Bart Clarke, Lorenz Hofbauer, Aliya Khan, Peter Schwarz, Tamara Vokes, Intekhab Ahmed, Andrea Palermo, Filomena Cetani, Uberto Pagotto, Carol Zhao, Michael Ominsky, Bryant Lai, Jenny Ukena, Aimee Shu, Lars Rejnmark

Division of Endocrinology, Diabetes and Metabolic Diseases Faculty Papers

Hypoparathyroidism is an endocrine disease caused by insufficient levels of PTH, which acts directly on bone and kidney and indirectly on the intestine to regulate calcium and phosphate balance. In clinical trials, palopegteriparatide (TransCon PTH) treatment enabled independence from conventional therapy (no active vitamin D, ≤600 mg/d calcium) and maintained serum biochemistries within normal ranges. The current analyses describe patterns of change in BMD, serum bone turnover markers, and serum and urine calcium in adults with chronic hypoparathyroidism treated with palopegteriparatide through 3 years of the PaTH Forward trial. Baseline BMD Z-scores for the LS, TH, FN, and 1/3 distal …


Spatiotemporal Characterization Of Alzheimer Disease Pathology In Living Human Brain Tissue, Aram Aslanyan, Soumya Mukherjee, Yingxin He, Reid Coyle, Chihiro Sato, Nupur Ghoshal, Nicolas R Barthélemy, Srinivas Koutarapu, Katherine Schwetye, Kaleigh F Roberts, Randall J Bateman, Ross W Paterson, Et Al. Sep 2026

Spatiotemporal Characterization Of Alzheimer Disease Pathology In Living Human Brain Tissue, Aram Aslanyan, Soumya Mukherjee, Yingxin He, Reid Coyle, Chihiro Sato, Nupur Ghoshal, Nicolas R Barthélemy, Srinivas Koutarapu, Katherine Schwetye, Kaleigh F Roberts, Randall J Bateman, Ross W Paterson, Et Al.

2020-Current year OA Pubs

Alzheimer disease begins in the brain many years before symptoms, but early changes are usually studied after death or indirectly through fluid and imaging biomarkers. Here we show that small brain biopsies collected during ventriculoperitoneal shunt surgery can be used to study Alzheimer disease pathology and protein turnover during life. We analysed biopsies from 18 individuals with suspected normal pressure hydrocephalus, alongside matched ventricular and lumbar cerebrospinal fluid and post-mortem control brain tissue. Amyloid plaques were present in 9 of 18 biopsies, while mature tau tangles were rare. Matrix-assisted laser desorption/ionization mass spectrometry imaging mapped amyloid plaque chemistry within tissue. …


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 Sep 2026

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 …


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 Sep 2026

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 …


Endothelial Perk Restricts Lymphoid Regeneration By Reducing Dll4-Notch3 Signaling At The Pre-B Niche, Bingqing Zou, Qiuyun Chen, Junjun Zheng, Yimin Ma, Jay Myers, Yinghui Shang, Mofei Huang, Paul Christensen, Stanley Adoro, Chih-Hang Anthony Tang, Chih-Chi Andrew Hu, Sai Ravi Kiran Pingali, Wei Xin, Keith Syson Chan, Stephen Wong, Youli Zu, Hamed Jafar-Nejad, Lan Zhou Sep 2026

Endothelial Perk Restricts Lymphoid Regeneration By Reducing Dll4-Notch3 Signaling At The Pre-B Niche, Bingqing Zou, Qiuyun Chen, Junjun Zheng, Yimin Ma, Jay Myers, Yinghui Shang, Mofei Huang, Paul Christensen, Stanley Adoro, Chih-Hang Anthony Tang, Chih-Chi Andrew Hu, Sai Ravi Kiran Pingali, Wei Xin, Keith Syson Chan, Stephen Wong, Youli Zu, Hamed Jafar-Nejad, Lan Zhou

Faculty, Staff and Students Publications

Delayed immune recovery after hematopoietic stem cell (HSC) transplantation is associated with a poor clinical outcome. We study the role of unfolded protein response (ER stress) in hematopoietic regeneration within the bone marrow (BM) microenvironment. We reveal that BM endothelium PERK activation is a prominent feature of patients with leukemia and is a hallmark response in mice following ionizing irradiation. Ablating endothelial Perk boosts NOTCH ligand DLL4 expression and promotes DLL4-dependent early HSC and B progenitor regeneration. Single-cell analysis reveals that endothelial DLL4 activates NOTCH3 expressed by mesenchymal stroma cells, and that the PERK-DLL4 axis coordinates the regulation of lymphoid …