Digital Commons Network^™

Nextlongiso: A Comprehensive Nextflow Pipeline For Multi-Dimensional Long-Read Rna-Seq Analysis, Jiang Tan, Yuqing Wu, Yidan Sun

2020-Current year OA Pubs

SUMMARY: Long-read RNA sequencing technologies, including Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT), enable direct characterization of full-length transcripts and transcriptome complexity. However, analysis of long-read RNA-seq data remains fragmented across multiple tools, limiting the ability to obtain a unified view of transcript structure, expression, and regulatory variation in long-read transcriptomes. We present NextLongIso, a scalable and reproducible Nextflow pipeline that enables coordinated analysis of multiple layers of transcript regulation. Rather than focusing solely on transcript reconstruction, NextLongIso integrates transcript discovery with downstream regulatory analyses to jointly characterize alternative splicing, isoform switching, transcript boundary dynamics (including alternative promoters and …

Non-Enzymatic Hepatic Abhd6 Interacts With Akt-Foxo1 Axis To Regulate Metabolic Health, Guannan Li, Laurence T Maeyens, Jiyuan Yin, Jan-Bernd Funcke, Chanmin Joung, Ruizhen Li, Ziying Xu, Ting Wu, Xin Li, Nisi Jiang, Mbolle Ekane, Maria Paula Lopez, Pengju Cao, Sijia He, Adam B Salmon, S R Murthy Madiraju, Marc Prentki, Juli Bai, James F Nelson, Xianlin Han, Yi Zhu, Shangang Zhao

Children’s Nutrition Research Center Staff Publications

The enzymatic role of ABHD6 in insulin secretion and resistance is well documented. However, its non-enzymatic function, especially its effects on metabolic health, including selective hepatic insulin resistance and metabolic dysfunction-associated steatotic liver disease (MASLD), is poorly understood. To define the role of ABHD6 in liver physiology, we generated liver-specific ABHD6 knockout mice, as well as liver-specific native and enzymatically inactive mutant ABHD6 overexpression mouse models. We demonstrate that non-enzymatic ABHD6 contributes to the regulation of selective hepatic insulin resistance and MASLD progression. Mechanistically, we show that ABHD6 localizes to the nucleus and interacts with Akt/FoxO1 axis to regulate insulin …

Mir155, Triplicated In Down Syndrome, Regulates The Development Of Neural Stem Cells And Gabaergic Interneurons In Alzheimer's Disease Mouse And Human Ipsc Models., Xiaodong Zhu, Jean-Vianney Haure-Mirande, Mesude Bicak, Pengfei Dong, Ilya Kruglikov, Aiqun Li, Aisha Al-Subaie, Valentina Fossati, Scott Noggle, Sam Gandy, Michelle E Ehrlich

Faculty Research 2026

INTRODUCTION: Dysfunctional microRNAs and GABAergic interneurons are features of Alzheimer's disease (AD). The role of neuronal microRNA155 (miR155), elevated in both AD and Down syndrome (DS), remains unknown.

METHODS: We utilized in silico analyses of published databases, MIR155-deleted and -overexpressing human induced pluripotent stem cell (hiPSC)-derived cells, cortical organoids, and amyloid beta precursor protein (APP)/PS1-miR155 knockout mouse.

RESULTS: MIR155HG (miR155 host gene) colocalizes with APP in a neuron-specific, topologically associated domain (TAD) in chromosome 21. In human neural stem cells (NSCs), neurons, and cortical organoids, MIR155 deletion enhanced NSC proliferation and GABAergic interneuron generation. MIR155 overexpression inhibited NSC marker expression …

The Past, The Present, And The Future Of Preclinical Mouse Models For Alzheimer's Disease And Related Dementias., Adrian L Oblak, Michael Sasner, Gregory W. Carter, Gareth R Howell, Stacey J Sukoff Rizzo, Karina Leal, Paul R Territo, Bruce T Lamb

Faculty Research 2026

Over the past decade, the Model Organism Development and Evaluation for Late-Onset Alzheimer's Disease (MODEL-AD) consortium has transformed preclinical Alzheimer's disease (AD) research by addressing critical limitations in traditional mouse models that failed to translate to human disease. By leveraging human genetic discoveries, MODEL-AD has developed > 70 genetically informed mouse models, standardized phenotyping pipelines, and an open-access data infrastructure aligned with late-onset AD biology. These models incorporate human risk variants, environmental factors, and aging to better capture disease complexity, including emerging recognition of mixed pathologies such as vascular contributions, Lewy body disease, and TDP-43 proteinopathy. Despite substantial progress, key challenges …

A Collaborative Framework For Uncovering Molecular And Cellular Drivers Of Vcid: Foundations For Future Interventions In Dementia., M Luisa Iruela-Arispe, Jason D Hinman, Andrew C Yang, Fabrice Dabertrand, Jin-Moo Lee, Gareth R Howell, The Vcid Centers Without Walls Network

Faculty Research 2026

Vascular-related factors are now considered major contributors to most forms of dementia, including Alzheimer's disease. However, the degree to which vascular deficits contribute to risk, onset, and progression of cognitive impairment and dementia has only recently been appreciated. Our understanding of the mechanisms by which vascular deficits drive cognitive decline in dementia is still limited. Further, the testing of therapeutic approaches to prevent vascular deficits to treat dementia are few. These factors motivated the establishment of the Vascular Contributions to Cognitive Impairment and Dementia (VCID) Center Without Walls (CWOW) network, comprising institutes across the United States. We describe the current …

Worldwide Innovative Network Consortium: Building A Common Global Cancer Database., Farhood Farahnak, Wafik S El-Deiry, Yves A Lussier, Razelle Kurzrock, Shai Magidi, Catherine Bresson, Shirin A Enger, Jia Liu, Jair Bar, Jeremy L Warner, Tobias Meissner, Eitan Rubin, Jens Rueter, Himabindu Gaddipati, Mandar Kulkarni, Zhen Chen, Sewanti Limaye, Rachel Elsey, Brenda M Rubenstein, Anthony M Joshua, Humaid O Al-Shamsi, Khaled M Musallam, Fanny Wunder, Jacques Raynaud, Guy Berchem, Manon Gantenbein, Amal Al Omari, Said Dermime, Hikmat Abdel-Razeq, Pierre Saintigny, Andrés Cervantes, Roger R Reddel, Adel T Aref, Juan Martin-Liberal, Conxi Lázaro, David Cordero Romera, Marina Sekacheva, Raanan Berger, C S Pramesh, Ioana Berindan-Neagoe, Eugenia Girda, Alejandro Piris-Gimenez, Carol J Farhangfar, Mohammed E Salem, Rodrigo Dienstmann, Ramon Salazar, Naftali Z Frankel, Zachary Batist, Yuri Quintana, Gerald Batist

Faculty Research 2026

This review shares the ongoing work of the global Worldwide Innovative Network (WIN) Consortium for Precision Medicine to synthesize emerging cancer treatment data and to define the requirements for a common global cancer database that can truly support precision oncology. We performed a narrative review of emerging cancer treatment data, molecular profiling technologies, and existing clinicogenomic databases, focusing on how tumors are characterized, how subgroups are defined, and how demographic, lifestyle, and environmental factors are captured. The growth in molecular profiling technologies and the development of new targeted therapies are transforming cancer care. Tumors, regardless of tissue origin, are increasingly …

Inhibition Of Moesin And Cd44 In Stem Cell-Derived Neurons Affects The Pathological Genetic Signature Associated With Alzheimer's Disease., Eiden H Brewer, Charles A Williams, Gregory Cary, Ranjita Betarbet, Inez K A Pranoto, Elizabeth L Zoeller, Haian Fu, Allan I Levey, Jesse C Wiley, Gregory W. Carter, Jessica E Young, Treat-Ad Consortium

Faculty Research 2026

INTRODUCTION: Post mortem proteomic analysis of Alzheimer's disease (AD) brain tissue has identified novel target genes and proteins for potential therapeutic development. Moesin (MSN) and CD44 were identified as candidate targets. Using human induced pluripotent stem cells (hiPSCs)-derived neurons, we assayed how reducing gene expression of MSN and CD44 affected amyloid beta secretion, tau phosphorylation, and transcriptional state.

METHODS: Knockdown of MSN and CD44 in hiPSC-derived neurons was performed using short hairpin RNA (shRNA). Amyloid precursor protein processing and intracellular tau phosphorylation was measured using chemiluminescent ELISA assays. Global gene expression was analyzed by bulk RNA sequencing (RNA-seq).

RESULTS: Knockdown …

Attrition Of The Midwifery Workforce: Understanding Factors Associated With Leaving The Profession, E. Brie Thumm, Amy H. Goh, Elizabeth G. Phillips, Zachary Giano

College of Health Professions Faculty Papers

OBJECTIVE: To understand why advanced practice midwives (certified nurse-midwives and certified midwives) leave the workforce.

STUDY SETTING AND DESIGN: A multi-method, multi-source investigation included secondary analysis of certification data of advanced practice midwives and a cross-sectional online survey with closed- and open-ended items. Advanced practice midwives' active certification data were used to compare self-reported demographic characteristics of advanced practice midwives who reported working in the discipline of midwifery to those who did not (n = 9704). A survey was conducted in 2022 with individuals who allowed their certification to lapse between 2017 and 2021 (n = 303) and individuals who …

Effects Of Concurrent Neuropathologies With Alzheimer Disease Neuropathologic Change On Cognitive Decline: Minimal Impact Of Vascular Brain Injury Compared With Other Combinations, Sarah M Yasuda, Charles Mock, Kathryn Gauthreaux, Kwun C G Chan, C Dirk Keene, Jessica E Culhane, Yen-Chi Chen, Walter Kukull

2020-Current year OA Pubs

We examined cognitive changes associated with several neuropathologic entities, alone and in combination. We studied 808 participants from the National Alzheimer's Coordinating Center to assess associations between neuropathologic diagnoses (from autopsy) and neuropsychologic test scores (trajectories over time for 5 domains: overall cognition, episodic memory, attention, language, executive function). Neuropathologies included: Alzheimer disease neuropathologic change (ADNC), Lewy body disease (LBD), vascular brain injury (VBI), and limbic-predominant age-related TDP43 encephalopathy neuropathologic change (LATE-NC). Using linear mixed-effects models, we examined trajectories of cognitive decline for ADNC alone compared to ADNC plus LBD, VBI, or LATE-NC. We also examined differences between observed trajectories …

Financial Toxicity And Cost-Related Imaging Nonadherence In Pediatric Outpatient Imaging, Shireen E Hayatghaibi, Gregory L Jordan, Tucker Hansen, Amy E Ensing, Aditi Gupta, Evan A Mihalakakos, Bin Zhang, Pradipta Debnath, Carrie C Coughlin

2020-Current year OA Pubs

RATIONALE AND OBJECTIVES: Financial toxicity, defined as the financial burden and stress experienced due to medical costs, is increasingly recognized as a key patient-reported outcome and has been linked to cost-related non-adherence in adult populations. However, its prevalence and impact in pediatric imaging are unknown. We examined the prevalence and predictors of financial toxicity among families of children undergoing outpatient imaging and its association with imaging non-adherence.

MATERIALS AND METHODS: We conducted a prospective cross-sectional survey of parental caregivers of children (< 18 years of age) undergoing outpatient imaging at two free standing children's hospitals in the U.S. (July 2024-May 2025). Financial toxicity was measured using the adapted FACIT-COST instrument and scores < 26 indicated high financial toxicity. Multivariable logistic regression examined associations between family characteristics and high financial toxicity.

RESULTS: Among 399 caregivers, the mean FACIT-COST score was 24.6 (SD 10.2), and 49% were categorized as having …

Kirschner Wire Skeletal Fixation In The Hand And Wrist: Risk Of Infection And Predictors Of Progression To Major Complications, Mitchell S Mologne, Julia M Perugini, Nicholas A Calotta, Lindley B Wall, Charles A Goldfarb

2020-Current year OA Pubs

PURPOSE: Kirschner wire (K-wire) infections continue to be a challenge in hand surgery. Our purpose was to quantify the frequency of K-wire site infections of the hand and wrist, to tabulate major and minor infectious manifestations, to identify factors that may predispose a patient to major complications, and to generate an updated algorithm for prognostication and treatment of K-wire site infections.

METHODS: Patients treated with K-wires in the fingers, hand, and wrist who developed infections between 2018 and 2024 at our institution were identified. Information regarding patient factors, injury, treatment, and subsequent infectious complications was collected. Variables from single variable …

Language And Sound Exposure Across Neonatal Intensive Care Hospitalization And Relationships With Early Outcome, R Pineda, L J Woodward, Z A Vesoulis, C D Smyser, T E Inder, A M Mathur, B L Schlaggar

2020-Current year OA Pubs

OBJECTIVES: Examine relationships between quantitative measures of language and sound exposure in the NICU and infant neurobehavior.

STUDY DESIGN: Sixty-four preterm infants (≤28 weeks of gestation) had language and sound exposure measured across four time points: within two weeks of birth and at 30, 34, and 35-41 weeks postmenstrual age (PMA). Neurobehavior was assessed at 35-41 weeks PMA using the NICU Network Neurobehavioral Scales.

RESULTS: Higher average decibel levels in the NICU environment were associated with lower infant orientation scores (p = 0.04, β = -0.33). Higher peak decibel levels were associated with greater hypertonia (p = 0.01, β = …

Reduced Lower Extremity Strength, Altered Muscle Activation, And Unchanged Kinetics During Single-Leg Squatting In Males With Patellofemoral Pain Versus Pain-Free Males: A Cross-Sectional Analysis, Lisa T. Hoglund, Amy H. Amabile, Thomas Alexander Hulcher, Victoria K. Polansky, Erin L. Dopke

Department of Physical Therapy Faculty Papers

BACKGROUND: Patellofemoral pain is frequently a cause of reduced quality of life in physically active males. The cause of patellofemoral pain is theorized to include aberrant biomechanics during weight-bearing activities. Altered biomechanics of females with patellofemoral pain have been reported, but there is a dearth of research for males with this condition. This study aimed to compare males with and without patellofemoral pain for hip and knee joint moments and muscle activation during single-leg-squatting and proximal muscle strength.

METHODS: Twenty males with patellofemoral pain and 20 pain-free males aged 20-39 years performed single-leg-squatting while motion, ground reaction force, and proximal …

Assessing The Feasibility Of A Self-Management Intervention For Individuals With Advanced Prostate Cancer And Comorbid Type Ii Diabetes Mellitus, Amy L. Shaver, Christina Steinbock-Malfer, William Tester, Patrick Mille, William K. Kelly, Kevin K. Zarrabi, Costas D. Lallas, Mihir M. Shah, Rose Dimarco, Emily Brand, Shawntel Brown, Swapnil Sharma, Nikita Nikita, Cindy Cogen, Scott W. Keith, Grace Lu-Yao

Kimmel Cancer Center Faculty Papers

BACKGROUND: Many older adults with cancer have at least one comorbidity. Type II diabetes mellitus (T2DM) is a common comorbidity among patients with prostate cancer (PC) and represents an important consideration in this population. Comorbid T2DM can negatively impact cancer-specific outcomes for patients, suggesting the need for better glycemic management, especially for patients on active cancer treatment. The goal of this modified Diabetes Self-Management Education Services (mDSMES) pilot study was to provide patients with the opportunity to learn methods of diabetes self-management, including how to manage their glucose levels, improve their understanding and utilization of medication to promote improvements in …

Hyperadhesive Von Willebrand Factor Contributes To Pathogenesis Of Preeclampsia, Yajuan Wang, Chenyu Wang, Katie L Houck, Xiaoli Gao, Yuanyuan Chen, Xin Xu, Xue Zhao, Miguel A Cruz, Shu Zhang, Chester Q Li, Fengxia Xue, Min Li, Swati Shree, Jing-Fei Dong, Cha Han

Children’s Nutrition Research Center Staff Publications

Background: Preeclampsia is the most common complication of pregnancy, significantly affecting maternal and fetal health, and is characterized by placental and systemic endotheliopathy. Patients with preeclampsia have elevated levels of VWF (von Willebrand Factor), which is associated with poor clinical outcomes. However, whether VWF serves as a marker for endotheliopathy or contributes to the pathogenesis of preeclampsia remains poorly understood.

Methods: We investigated the role of hyperadhesive VWF in the development of preeclampsia by studying patients, evaluating mouse models, and performing in vitro experiments.

Results: We show that patients develop VWF- and fibrin-rich thrombosis in the placenta and have significantly …

All-Cause And Cause-Specific Mortality In Gambling Disorder: Evidence From A Nation-Wide Matched And Sibling Cohort Study In Taiwan, Yang-Chieh Brian Chen, Chih-Wei Hsu, Liang-Jen Wang, Mu-Hong Chen, Yao-Hsu Yang, Chih-Sung Liang, Edward Chia-Cheng Lai

Children’s Nutrition Research Center Staff Publications

Background and aims: Gambling disorder (GD) has been linked to suicidal ideation and suicide deaths; however, evidence on all-cause and cause-specific mortality-particularly in Asian populations-remains limited. Using a retrospective cohort study based on nationwide matched and sibling cohort, we investigated all-cause and cause-specific mortality risk in patients with GD.

Design, setting and participants: A retrospective cohort study was conducted using 2000-2022 data from Taiwan's National Health Insurance Research Database. A cohort of 961 individuals diagnosed with GD was identified. An age- and sex-matched control cohort (n = 3,844) and an unaffected sibling cohort (n = 675) were constructed. Cumulative survival …

Adamts13 And Von Willebrand Factor In Relation To Vascular Cognitive Impairment And Cerebral Small Vessel Disease: The Heart-Brain Connection Study, Amos C Pomp, Mathijs T Rosbergen, Moniek P M De Maat, Paul S De Vries, M Arfan Ikram, Mat J A P Daemen, Imo E Hoefer, Wiro J Niessen, Jeroen De Bresser, Esther E Bron, Charlotte E Teunissen, Geert Jan Biessels, Robert J Van Oostenbrugge, Frank J Wolters

Faculty, Staff and Student Publications

Background: Reduced activity of a disintegrin-like and metalloprotease with thrombospondin type 1 repeats 13 (ADAMTS13) is associated with an increased risk of dementia, independent of Von Willebrand factor (VWF) levels. Pathways underlying this association remain poorly understood.

Objectives: Investigate the associations of VWF levels and ADAMTS13 activity with vascular cognitive impairment (VCI) and cerebral small vessel disease (CSVD).

Methods: In this cross-sectional study, we included 147 participants with VCI and 120 reference subjects (mean age: 67.5 years, 41% women). Using multivariable logistic regression, we determined the cross-sectional association of ADAMTS13 activity and VWF levels in plasma with VCI. Additionally, across …

Defining The Value Of Elective Lumbar Fusion: A Systematic Review Of Existing Methodologies And Framework For The Operative Value Index, Advith Sarikonda, Anthony Chen, Theo S. Biddle, Danyal A. Quraishi, Preston Carey, Arbaz A. Momin, Matthews Lan, Dwight Mitchell Self, Ashmal S. Kabani, Ahilan Sivaganesan

Department of Neurosurgery Faculty Papers

BACKGROUND: Despite wide variation in the outcomes and costs of lumbar fusion, few studies have integrated these domains together within a single metric to assess "value" (outcomes achieved per dollar spent). In this review, we sought to 1) characterize existing metrics of cost-effectiveness for lumbar fusion, 2) evaluate all applications of time-driven activity-based costing (TDABC) in spine surgery, and 3) outline the conceptual foundation for a standardized Operative Value Index (OVI).

METHODS: Two PRISMA-concordant systematic reviews were performed on PubMed and Scopus databases. The first review examined all studies which reported a cost-effectiveness metric for lumbar fusion. The second review …

An Update On The Role Of Multimodal Analgesia In Perioperative Pain Management, Whitney N. Kuwamoto, Grace C. Eddy, Edward R. Mariano, Eric S. Schwenk

Department of Anesthesiology Faculty Papers

Multimodal analgesia has become a foundational principle of acute perioperative pain management and enhanced recovery and involves the application of nonpharmacologic, pharmacologic, and/or interventional techniques. The overall goal of this approach is to apply a combination of different modalities that target discrete points along the pain pathway and thereby avoid the overreliance on opioids and associated side effects. Since our review in 2018, there have been significant developments that have prompted an updated review of multimodal analgesia. In this article, we identify and summarize important trends that influence the current approach to acute perioperative pain management as well as provide …

Systemic Corticosteroids In The Management Of Sinonasal Disease: An Evidence-Based Expert Review, Andrew Thamboo, Deanna Gigliotti, Eugenio De Corso, Stella Lee, Benjamin S Bleier, Christopher J Chin, Marie-Noelle Corriveau, Valerie Hox, Claire Hopkins, Peter H Hwang, Arif Janjua, Ludger Klimek, Daniel Lee, John Lee, Amber Luong, Geoffrey Mortuaire, Joaquim Mullol, Zara M Patel, John Scott, Doron Sommer, Leigh Sowerby, Marc Tewfik, Beatrice Voizard, Martin Wagenmannm, Sarah K Wise, Jonathan Yip, Quirina Thompson, Martin Desrosiers, Yvonne Chan

The Brown Foundation: Institute of Molecular Medicine

Background: Chronic rhinosinusitis (CRS) is a prevalent, heterogeneous inflammatory disease associated with significant morbidity. Systemic corticosteroids (SCS) are commonly prescribed for their anti-inflammatory effects, but cumulative exposure carries risks, including metabolic, cardiovascular, and skeletal complications. Despite widespread use, evidence-based guidance on optimal indications, timing, and duration of SCS in CRS remains inconsistent.

Methodology/principal: An evidence-based review was performed using MEDLINE, EMBASE, and Cochrane databases (2013-2023). Studies were screened and categorized into two primary groups: CRS with (CRSwNP) or without (CRSsNP) nasal polyps. Within CRSwNP, evidence was subcategorized by indication, including (1) polyp size reduction, (2) olfactory dysfunction, (3) comorbid disease, …

Clinical Machine Learning Model For Predicting Pathological Complete Response In Patients With Esophageal And Gastroesophageal Junction Adenocarcinoma After Trimodality Therapy, Kohei Yamashita, Evan Kwiatkowski, Matheus Sewastjanow-Silva, Jane E Rogers, Katsuhiro Yoshimura, Melissa Pool Pizzi, Qiong Gan, Jenny J Li, Rebecca E Waters, Mariela Blum Murphy, Masaaki Iwatsuki, Wayne L Hofstetter, Aileen Chen, Ying Yuan, Jaffer A Ajani

Faculty, Staff and Student Publications

Background: Accurate prediction of pathological complete response (pCR) after preoperative chemoradiation therapy, followed by surgery (trimodality therapy) in esophageal adenocarcinoma (EAC) and gastroesophageal junction adenocarcinoma (GEJAC) may improve clinical decision-making and patient counseling before esophagectomy. This study aimed to develop predictive models for pCR after trimodality using machine learning (ML) approaches.

Patients and methods: A total of 569 patients with EAC and GEJAC who received trimodality therapy at MD Anderson Cancer Center between 2002 and 2022 were included. Clinicopathological characteristics and survival benefit of patients who achieved a pCR were reviewed via descriptive and survival analyses. Subsequently, ML models based …

Safety And Efficacy Of Tranexamic Acid In Urologic Surgery: Results From The International, Randomized, Placebo-Controlled Poise-3 Trial, Kari A O Tikkinen, Maura Marcucci, Alex L E Halme, Sandra N Ofori, Flavia K Borges, Charlotte T B Kanstrup, Lily J Park, Farhad Tondroanamag, Tuomas P Kilpeläinen, Sara V Tornberg, Thomas W Painter, David Conen, Vladimir Lomivorotov, Daniel I Sessler, Matthew T V Chan, Maria Jose Martinez-Zapata, Chew Y Wang, Denis B Xavier, Michael K Wang, Wojciech Szczeklik, Kate Leslie, Luke T Lavallee, Rodney H Breau, Kumar Balasubramanian, P J Devereaux

Faculty, Staff and Student Publications

Background and objective: Perioperative bleeding is common. Evidence for tranexamic acid (TXA) in urology remains limited and conflicting, and major urologic guidelines provide no recommendations. In an a priori planned analysis, we evaluated TXA among patients undergoing urologic surgery in POISE-3.

Methods: POISE-3 was an international randomized trial of patients undergoing surgery with bleeding and cardiovascular risk factors. Participants received TXA (1 g intravenous bolus at surgery start and end) or placebo. The primary efficacy outcome was a 30-day bleeding composite (life-threatening/major/critical organ), and the primary safety outcome was a 30-day thrombosis composite (myocardial injury after noncardiac surgery [MINS], nonhemorrhagic …

Fuimos Olvidados Y Descuidados [Forgotten And Neglected]: Lessons Learned And Findings From On-Farm Covid-19 Education And Vaccine Clinics For Agricultural Workers And Their Multigenerational Families In Texas, Anabel Rodriguez, David I Douphrate, Ana L Pineda Reyes, Susana Zavala, Lus Chavez, Sofia Nicole Lopez, Andrea V Cabrera Cruz, Annie J Keeney, Nora Hernandez, Brenda Berumen-Flucker, Eva M Shipp, Matthew W Nonnenmann, Shannon P Guillot-Wright, Bethany Boggess Alcauter, G Lopez Ixta, Paula M Cuccaro, Higinio Fernandez-Sanchez, David Gimeno Ruiz De Porras

Faculty, Staff and Student Publications

Background: Despite being deemed essential non-healthcare workers, agricultural workers were excluded from COVID-19 vaccine prioritization in Texas. This professional practice report describes the multifaceted worker health and safety approaches to protecting agricultural workers and their families during the COVID-19 pandemic.

Methods: Between March 2020 and January 2025, several outreach, education, and training grants from various funding agencies were leveraged to deliver training, personal protective equipment, vaccines, and economic relief to agricultural workers in partnership with community-based organizations, industry, local public health departments, and academic institutions.

Findings: Timely funding efforts led to the distribution of 1,000 PPE kits, with more than …

Cyp2c19 C.681g>A Is Not In Complete Linkage Disequilibrium With C.332-23a>G: Implications For Pharmacogenetic Testing., Amy J Turner, Erin C. Boone, Cyrine E Haidar, Wenjian Yang, Ashley D Derezinski, Andrew Haddad, Philip E. Empey, Ulrich Broeckel, Andrea Gaedigk

Manuscripts, Articles, Book Chapters and Other Papers

CYP2C19 plays an important role in the metabolism of many medications, including the antiplatelet agent clopidogrel, the antifungal agent voriconazole, selective serotonin reuptake inhibitors, select tricyclic antidepressants, and proton pump inhibitors. The Clinical Pharmacogenetics Implementation Consortium has published several guidelines emphasizing the importance of CYP2C19 genotype-guided therapy to optimize patient outcomes. Formerly, the no function CYP2C19*2 allele was defined by three variants, c.332-23A>G (splice defect), c.681G>A (splice defect), and c.991A>G (p.I331V). The discovery of two new haplotypes, one containing only a single variant, c.681G>A, and another with only c.681G>A and c.991A>G, challenged the assumption …

Small But Mighty: How Can Pediatric Psychologists Harness The Power Of Digital Single-Session Interventions?, Christina Amaro, Alexandra Monzon, Melissa Alderfer, Kimberly Canter, Michael Amylon, Stephanie Fooks-Parker, Jessica Schleider, Susana Patton, Katie Devine

Department of Pediatrics Faculty Papers

OBJECTIVE: Single-session interventions (SSIs) are an innovative, scalable approach for addressing the unmet behavioral and mental health needs of pediatric patients and their families. Specifically, digital SSIs, which are self-guided and delivered online, offer a low-cost and accessible approach but are currently underutilized in pediatric psychology.

METHODS: This topical review aims to describe SSIs broadly and the specific need for digital SSIs, explore potential applications within pediatric psychology, outline future directions and considerations, and present two examples of community-engaged digital SSI design.

RESULTS: SSIs evidence small to medium effects across a range of mental health concerns, including distress, anxiety, and …

Quantitative Imaging Of Pyruvate Metabolism In A Patient With Anaplastic Thyroid Cancer, James A Bankson, Joshua S Niedzielski, Collin J Harlan, Yunyun Chen, Christopher M Walker, Philip L Lorenzi, Lin Tan, Vikas Kundra, Matthew E Merritt, Mukundan Ragavan, Dawid Schellingerhout, Renjie He, Yao Ding, Sahana Datar, Qing Wang, Christine B Peterson, Clifton D Fuller, Vlad C Sandulache, Stephen Y Lai

Faculty, Staff and Students Publications

Purpose: Magnetic resonance imaging using hyperpolarized (HP) [1-13C]-pyruvate enables assessment of pyruvate metabolism in vivo and offers new insight into metabolic changes in response to cancer therapy. Widely used semi-quantitative metrics of pyruvate metabolism can be affected by physiological factors that are extrinsic to intracellular metabolism. A validated pharmacokinetic (PK) model for analysis of intracellular pyruvate metabolism is needed to enhance the accuracy of quantitative metrics and clinical translation of metabolic MRI using HP pyruvate.

Methods: A PK model with two physical compartments and two chemical pools was developed to analyze the conversion of labeled pyruvate into lactate in vitro. …

Multi-Level Disparities In Survival Among Patients Diagnosed With Oral Cavity Cancer In Texas Between 1995 And 2020, Guillermo A Tortolero, Erich M Sturgis, Jose-Miguel Yamal, Melissa F Peskin, Cici Bauer, Caitlin C Murphy

Faculty, Staff and Students Publications

Background: Multi-level factors, including demographic and neighborhood social conditions, related to disparities in oral cavity cancer (OCC) are not fully understood. We examined the association between these factors and survival outcomes among patients diagnosed with OCC.

Methods: We identified 14,416 patients diagnosed with OCC from 1995 to 2020 using population-based data from the Texas Cancer Registry. Neighborhood-level social vulnerability was measured using the 2010 US Centers for Disease Control and Prevention's Neighborhood Social Vulnerability Index (CDC-SVI). We examined race and ethnicity, CDC-SVI (as sample-based quintiles), and their joint effects with survival outcomes.

Results: Five-year survival probability was 38.6% (95% CI: …

Cost-Effectiveness Of Hes V2.0 And Galad For Hepatocellular Carcinoma Surveillance In Patients With Cirrhosis, Mert Sahinkoc, Gizem S Nemutlu, Hashem B El-Serag, Mary Linton B Peters, Ali Hajjar, Anthony E Samir, Leigh Anne Dageforde, Fasiha Kanwal, Jagpreet Chhatwal

Faculty, Staff and Students Publications

Background: Ultrasound-based surveillance for HCC is limited by suboptimal sensitivity and low adherence. Blood-based biomarkers are potential alternatives for routine HCC surveillance. We aimed to define optimal sensitivity, specificity, and cost parameters under which blood-based biomarkers could serve as cost-effective alternatives in patients with cirrhosis.

Methods: We developed a microsimulation model of the natural history of HCC in individuals with compensated cirrhosis. We compared the cost-effectiveness of biannual surveillance using 2 blood-based biomarkers-HES V2.0 and GALAD-versus ultrasound-based surveillance across a range of sensitivity, specificity, test costs, and adherence levels. Outcomes included quality-adjusted life years (QALYs), costs, and incremental cost-effectiveness ratios …

Dupilumab Versus Placebo In Adults And Adolescents With Eosinophilic Gastritis (Degas): A Double-Blind, Placebo-Controlled, Phase 2, Multicentre, Randomised Controlled Trial, Nirmala P Gonsalves, Evan S Dellon, Kara L Kliewer, Tetsuo Shoda, Regina Yearout, Seema S Aceves, Nicoleta C Arva, John A Besse, Julie M Caldwell, Mirna Chehade, Amaziah Coleman, Margaret H Collins, Sara Anvari, Gary W Falk, Sandeep K Gupta, Girish Hiremath, David A Katzka, Paneez Khoury, John Leung, Calies Menard-Katcher, Paul Menard-Katcher, Kathryn A Peterson, Maria A Pletneva, Amanda K Rudman Spergel, Jonathan M Spergel, Tatyana Vaysman, Joshua B Wechsler, Benjamin L Wright, Guang-Yu Yang, Xue Zhang, Meijian Zhou, Ashish Bansal, Bram P Raphael, Amr Radwan, Jennifer Maloney, Antonio Martin, Yamo Deniz, Glenn T Furuta, Lisa J Martin, Marc E Rothenberg

Faculty, Staff and Students Publications

Background: Eosinophilic gastritis currently has no approved treatments and is postulated to be driven by type 2 inflammation. Dupilumab blocks type 2 cytokines IL-4 and IL-13 and has efficacy in multiple diseases characterised by type 2 inflammation, including eosinophilic oesophagitis. We aimed to assess the efficacy and safety of dupilumab in patients with eosinophilic gastritis.

Methods: DEGAS was a proof-of-concept, phase 2, multicentre, randomised controlled trial consisting of a 12-week, double-blind, placebo-controlled period, followed by a 24-week open-label extension period. Patients aged 12-70 years from 11 hospitals in the USA with histologically active eosinophilic gastritis (≥30 eosinophils per high-power field …

Colocalization Of Eqtls With Type 2 Diabetes And Glycemic Traits Using Whole-Genome Sequences In Diverse Populations From The Nhlbi Trans-Omics In Precision Medicine (Topmed) Program, Ningyuan Wang, Daniel A Dicorpo, Yixin Zhang, Erica Kleinbrink, Donna K Arnett, John Barnard, John Blangero, Donald W Bowden, April P Carson, Yii-Der Ida Chen, Mina K Chung, Joanne E Curran, Dawood Darbar, Ravindranath Duggirala, Patrick T Ellinor, Diane Fatkin, Myriam Fornage, Nancy Heard-Costa, Jiang He, Lifang Hou, Sharon L R Kardia, Charles Kooperberg, Ruth J F Loos, David D Mcmanus, Braxton D Mitchell, Ryan L Minster, Kari E North, Bruce M Psaty, Laura M Raffield, Susan Redline, Stephen S Rich, Dan Roden, Jerome I Rotter, Moore B Shoemaker, Jonathan D Smith, David R Van Wagoner, Francois Aguet, Kristin Ardlie, Joshua C Bis, Jennifer A Brody, Brian E Cade, Clary B Clish, Paul S De Vries, James S Floyd, Barry I Freedman, Stacey Gabriel, Robert E Gerzsten, Mark O Goodarzi, Charles Gu, Xiuqing Guo, Namrata Gupta, Susan R Heckbert, Sarah Hsu, Yi-Jen Hung, Rita R Kalyani, Tanika N Kelly, Gregory L Kinney, Changwei Li, Simin Liu, Yongmei Liu, Donald M Lloyd-Jones, Joann E Manson, Rasika A Mathias, Josep M Mercader, Alanna C Morrison, Take Naseri, Suna Onengut, Nicholette D Palmer, Patricia A Peyser, Qibin Qi, Sridharan Raghavan, Alex P Reiner, Mary R Rooney, Magdalena Sevilla-Gonzalez, Chloe Sarnowski, Joshua D Smith, Jennifer A Smith, Nicole L Spartano, Usman Tahir, Kent D Taylor, Deirdre K Tobias, Russel P Tracy, Satupa'itea Viali, Heming Wang, Alexis C Wood, Lisa R Yanek, Wei Zhao, Yinan Zheng, Josée Dupuis, Ching-Ti Liu, Robert Sladek, Jennifer Wessel, James B Meigs, Alisa K Manning, Nhlbi Trans-Omics For Precision Medicine (Topmed) Consortium

Faculty, Staff and Students Publications

Large-scale multiancestry genome-wide association studies have identified hundreds of loci associated with type 2 diabetes (T2D) and glycemic traits, yet imputed genotyping arrays limit the detection of low-frequency and rare variants. Whole-genome sequencing (WGS) offers a more complete view of genetic variation, especially across diverse populations. We analyzed high-coverage (38×) WGS data from 21,913 T2D case subjects, 61,036 control subjects, and up to 50,011 individuals with no diabetes with fasting glucose, fasting insulin, and HbA1c from the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine Program. We performed single-variant association testing, conditional analysis, fine-mapping, and Bayesian colocalization to …