Digital Commons Network^™

Endotyping Obstructive Sleep Apnea In Infants With Micrognathia, Alexis Dominic, Zarmina Ehsan, Baha Al-Shawwa Md, Karishma Rao, Blake A. Welker, Meghan Tracy, Andrew Li, Alessandra Manoylova-Vedder, Shiyuan Chen, Shu-Ching Chen, Members Of The Data Science And Analytics Innovation Center (Dsaic), John P. Dahl, Janelle Noel-Macdonnell

Posters

No abstract provided.

Exposure-Toxicity Analysis Of Fluoxetine In Children And Adolescents, Amelia Whittier, Ethan Poweleit, Whitney Sparks Ms, Catherine Koertje, Addison Pritchett Ms, Angela Wiedner, Gail Robertson, Lindsey Malloy-Walton, Stephani Stancil, Alexa L. Pagano, Kathryn Kyler, Jonathan B. Wagner, Jeffrey R. Strawn, Brandon Retke, Paul C. Toren, J Steven Leeder, Laura B. Ramsey

Posters

No abstract provided.

Cartilage Ring Formation In Chick Trachea, Yashica Sharma, Samuel Q. Mellentine, John Dahl, Jennifer C. Kasemeier

Posters

No abstract provided.

Advancing Health Equity In Global Oncology: A Collaborative Academic-Cancer Society-Industry Program To Address Health Disparities In Sub-Saharan Africa, Kenneth Merrell, Ben Kamdem-Talom, Hannah Anie, Christine Wekesa, Nomsa Tsikai, Miriam Mutebi, Rakiya Saidu, Nwamaka Lasebikan, Adamu Bojude, Randiak Alaro

General Surgery, East Africa

Purpose Cancer care capacity in sub-Saharan Africa (SSA) is constrained by late diagnosis and limited treatment access. Few funding mechanisms support innovative, locally led programs to address these challenges. A collaborative initiative was developed to strengthen oncology care through quality improvement (QI) projects.

Materials and Methods The program was developed by Global Bridges Oncology (GBO) at Mayo Clinic, Pfizer Global Medical Grants, and the African Organisation for Research and Training in Cancer. A committee composed primarily of African oncology experts guided the process. An RFP was disseminated across SSA in English, French, and Portuguese, inviting applications to improve diagnostic and …

Expanding Cleft Surgical Workforce Capacity In Low- And Middle-Income Countries Through Competency-Based Training, Daniel Bradley, Jonathan Diaz, Emily Jones, Kealani Unkel, Atenas Bustamante, Zenebe Gebremariyam, Daniel Abate, Mamy Andriamanarivo, Mekonen Abebe, Armando Siu

General Surgery, East Africa

Objective To evaluate a competency-based cleft surgery training pathway designed to expand local surgical capacity in low- and middle-income countries (LMICs).

Design Prospective observational study of cleft surgery training outcomes between July 2022 and September 2024.

Setting Operation Smile cleft surgery programs and partner hospitals in LMICs, with integrated virtual education.

Patients/Participants Twenty trainee cleft surgeons from 11 countries.

Interventions A competency-based training pathway combining virtual education and mentored operative experience, with assessment using a validated surgical competency tool.

Main Outcome Measures Changes in self-reported surgical confidence and educator-rated surgical competency

Results Trainee cleft surgeons participated in 1168 cleft lip …

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 …

Lessons Learned From The Validation Of A Machine Learning-Based Colorectal Carcinoma Screening Pipeline In Sub-Saharan Africa, Alfred Githuka, Ulysses Balis, Ye Chan Kim, Eileen Weinheimer-Haus, Christopher Williams, Jerome Cheng, Kelou Yao, John Blau, Shahin Sayed, Mansoor Saleh

Haematology and Oncology, East Africa

Background Artificial intelligence for digital pathology may improve cancer detection and workflow efficiency in low- and middle-income countries, but most models are trained and validated in high-income settings, creating uncertainty about generalizability and real-world deployability under differing pre-analytic and infrastructure conditions.

Objective To validate a locally optimized colorectal carcinoma screening pipeline, retrained on data from a local Kenyan cohort, and to assess its feasibility as a sensitivity-forward assistive pre-screening workflow.

Methods Formalin-fixed, paraffin-embedded hematoxylin and eosin-stained slides from 136 biopsy-proven colonic adenocarcinoma cases and 20 normal controls from 2 Kenyan institutions were digitized at 40× using a Grundium Ocus scanner. …

Emergency Medical Services Mental Health: Causes Of Providers Leaving The Industry, Brian C. Selke

Graduate Theses and Dissertations (2019 - present)

Employee resilience and mental health have become critical concerns in Emergency Medical Services (EMS) as workforce shortages increasingly threaten staffing stability and patient care. National Registry of Emergency Medical Technicians (NREMT) data indicates that more than 30% of eligible EMS providers did not recertify between 2020 and 2023, raising concerns about workforce sustainability. This study examines EMS providers’ intentions to leave the profession and identifies workplace factors associated with turnover. A statewide survey of more than 1,200 licensed EMS providers in Alabama was analyzed using regression techniques to evaluate the relationship between workplace conditions and turnover intentions. Results demonstrate that …

"I Can See Where This Is Taking Me": Medical Students' Perceptions Of Humanities Courses At Aga Khan University, Kenya, Catherine Gathu, Marthaclaire Zammit, Urvi Saboo, Robert Opoka

Family Medicine, East Africa

Background Humanities courses in medical training are increasingly recognized as essential for developing empathetic, reflective and socially responsive physicians. Although well-established globally, their integration into medical education in African contexts remains limited. In Kenya, humanities are often peripheral within curricula dominated by biomedical sciences and clinical medicine. Aga Khan University (AKU), Nairobi, has introduced a novel medical curriculum that embeds seven core humanities courses as central components of the initial phase of its MBChB program. This study explored students’ perceptions and lived experiences of these humanities courses.

Methods A retrospective descriptive study using an embedded mixed-methods design was conducted among …

A Misplaced Pocket Of Air: Intramural Gastric Air Most Consistent With Gastric Emphysema, Priyanka Panwar, Lavender Otom, Subo Marsa, Gerald Odong, Steven Idet, Irene Muchiri, Hussein Abdulsamad, John Odhiambo, Christopher Opio, Amos Mwasamwaja, Saleem Abdulkarim

Internal Medicine, East Africa

Background Gastric emphysema (GE), or gastric pneumatosis, is a rare, noninfectious cause of intramural gastric air that must be distinguished from emphysematous gastritis (EG), a highly lethal infectious entity. Despite similar radiographic appearances, these conditions differ substantially in etiology, clinical course, management, and prognosis.

Cases We report three hemodynamically stable patients with CT-confirmed intramural gastric air most consistent with GE. Two had associated portal venous gas. The cases occurred in distinct clinical contexts: infectious gastroenteritis with retching, transient midgut volvulus with obstructive gastric overdistension, and alcohol-related upper gastrointestinal bleeding with forceful vomiting and a Mallory–Weiss tear. Although early EG could …

Maternal, Perinatal, Neonatal, And Postpartum Outcomes Following Severe Acute Respiratory Syndrome - Coronavirus-2 Infection In Pregnancy: A World Health Organization Multi-Country Prospective Cohort Study, Edna Kara, Sami Gottlieb, Nathalie Broutet, Anna Thorson, Marie Delnord, Ibukun-Oluwa Abejirinde, Ronaldo Silva, Marleen Temmerman, Rodney Adam, Ingrid Gichere

Pathology, East Africa

Background Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection has raised global concerns regarding its impact on pregnant women and their infants, particularly across evolving variants. This study aimed to determine if infection during pregnancy increased the risk of adverse maternal, perinatal, neonatal, or postpartum outcomes during pre-Omicron and Omicron periods.

Methods We conducted a prospective cohort study in 10 primarily low- and middle-income countries, comprising public and private maternity hospitals in rural and urban areas. Maternal age and comorbidity adjusted mixed-effects models with country-specific random intercepts were used to estimate relative risks (RRs) comparing participants with and without infection …

Demographic And Clinical Characteristics Of Participants In The Neuropsychiatric Genetics Of African Populations-Psychosis (Neurogap-Psychosis) Study: A Descriptive Analysis, Rocky Stroud, Kimberly Hook, Melkam Alemayehu, Lukoye Atwoli, Mark Baker, Lori Chibnik, Bizu Gelaye, Stella Gichuru, Symon Kariuki, Rehema Mwema

Internal Medicine, East Africa

Background Approximately 1.3 million individuals in sub-Saharan Africa, as well as millions of others worldwide, live with psychotic disorders. However, there is limited mental health research based on these populations and even less of a focus on neuropsychiatric genetics research within these settings.

Methods To address this gap, the Neuropsychiatric Genetics of African Populations-Psychosis (NeuroGAP-Psychosis), a case-control study, collected data identifying genetic and environmental risk factors associated with psychotic disorders in Ethiopia, Kenya, South Africa, and Uganda. This paper describes baseline demographic and clinical characteristics of the 42,953 participants recruited between 2018–2023 and compares these characteristics by country and case …

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: …

Nutrition Considerations In Youth With Type 2 Diabetes Using Glucagon-Like Peptide-1 Receptor Agonists: A Commentary, Maria E Diaz, Grace Kim, Mili Vakharia

Faculty, Staff and Students Publications

No abstract provided.

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 …

Future Prospects Of Pediatric Lung Transplantation, Ernestina Melicoff, David Moreno Mcneill, Christian Benden

Faculty, Staff and Students Publications

This special issue of the Journal of Heart Transplantation Open is dedicated to Pediatric Thoracic Transplantation. The authors will discuss subjects related to pediatric lung transplantation such as access to donor organs, allograft dysfunction and role of functional status in outcomes.

Indications, Techniques, And Safety Of Cryotherapy And Cryobiopsy Via Flexible Bronchoscopy In Pediatric Patients, Alex J Katz, Haley Haskett, Kubra M Bozkanat, Aoife Corcoran, Lauren M C Grant, Antoinette Wannes Daou, Sin Tran, Esra Caylan, Alfin Vicencio, Dan T Benscoter, Cherie A Torres-Silva, Sara M Zak, Gregory Burg, Lisa R Young, Pelton Phinizy, Shailendra Das, Richard Paul Boesch, Erik B Hysinger, Joseph Piccione

Faculty, Staff and Students Publications

Rationale: Cryotherapy and its diagnostic analogue, cryobiopsy, are emerging techniques via bronchoscopy with a wide range of clinical applications. While the use of cryotherapy and cryobiopsy has been established in adult pulmonary medicine, pediatric data describing the indications, procedural specifics, outcomes, and complications are limited.

Objective: To describe the indications, procedural specifics, outcomes, and complications of cryotherapy and cryobiopsy use in pediatric bronchoscopy.

Methods: A multicenter retrospective observational study was conducted at 5 pediatric hospitals in the United States. Patients aged 0 to 21 years who underwent cryotherapy or cryobiopsy via bronchoscopy between January 2017 and January 2025 were included. …

Proteomic Signatures Of 3-Year Progression From Impaired Fasting Glucose To Diabetes: The Atherosclerosis Risk In Communities (Aric) Study, Mary R Rooney, Justin B Echouffo Tcheugui, Jingsha Chen, Keenan A Walker, Christie M Ballantyne, Eric Boerwinkle, Tanika N Kelly, Chiadi E Ndumele, James S Pankow, Morgan E Grams, Wendy S Post, Peter J Ganz, Alexis C Wood, Jerome I Rotter, Elizabeth Selvin, Josef Coresh

Faculty, Staff and Students Publications

Objective: To identify proteomic signatures underlying 3-year progression from impaired fasting glucose (IFG) to diabetes.

Research design and methods: We examined IFG progression in the Atherosclerosis Risk in Communities (ARIC) study from visit 2 (1990-1992) to visit 3 (1993-1995). We tested associations of 4,955 plasma proteins (SomaScan version 4.0) with ∼3-year progression from IFG (FG 100-125 mg/dL without diabetes) to diabetes (diagnosis, medication, or FG ≥126 mg/dL) using logistic regression models adjusted for demographics, cardiometabolic risk factors, and baseline glucose with Bonferroni correction (P < 10-5). We explored biological pathways enriched among the top proteins and calculated improvements in prediction (ΔAUC and net reclassification using 3-year risk thresholds of 6% and 15% in 80% training and 20% internal validation subsamples). We validated results in the Multi-Ethnic Study of Atherosclerosis (MESA) cohort.

Results: There were 3,786 ARIC participants with IFG (mean [SD] age 57 [6] years, 52% female, …

Rates Of, Reasons For, And Reactions To Discontinuation Of Glp-1 Receptor Agonists: A Narrative Review, Henry D Heisey, L Parker Gregg, Christopher D Verrico, Dennis T Villareal, Terri L Fletcher

Faculty, Staff and Students Publications

GLP-1RAs are increasingly used for their glucose-lowering and weight-management effects, but many patients discontinue them. In this narrative review we aim to review real-world, quantitative and qualitative GLP-1RA discontinuation, adherence, and persistence evidence as it aligns with an established conceptual framework for understanding medication adherence in noncommunicable chronic disease. Many inconsistencies exist in how discontinuation, adherence, and persistence are studied in this literature. Few qualitative studies have focused on discontinuation of GLP-1RAs. Quantitative approaches often focus on medication-related factors and more superficial aspects of socioeconomic and condition-related factors. Very few studies encompass all 5 dimensions of the medication adherence conceptual …

A Blended Genome And Exome Sequencing Method Captures Genetic Variation In An Unbiased And Cost-Effective Manner, Toni A Boltz, Benjamin B Chu, Matthew Defelice, Calwing Liao, Julia M Sealock, Robert Ye, Jacqueline I Goldstein, Lerato Majara, Jack M Fu, Susan K Service, Lingyu Zhan, Sarah E Medland, Sinéad B Chapman, Simone Rubinacci, Jonna L Grimsby, Tamrat Abebe, Melkam Alemayehu, Fred K Ashaba, Elizabeth G Atkinson, Tim B Bigdeli, Amanda B Bradway, Harrison Brand, Lori B Chibnik, Samuel Deluca, Ana M Diaz-Zuluaga, Abebaw Fekadu, Michael Gatzen, Bizu Gelaye, Stella Gichuru, Marissa L Gildea, Toni C Hill, Hailiang Huang, Kalyn M Hubbard, Wilfred E Injera, Roxanne James, Moses Joloba, Christopher Kachulis, Phillip R Kalmbach, Rogers Kamulegeya, Gabriel Kigen, Soyeon Kim, Nastassja Koen, Edith K Kwobah, Joseph Kyebuzibwa, Seungmo Lee, Niall J Lennon, Penelope A Lind, Esteban A Lopera-Maya, Johnstone Makale, Serghei Mangul, Justin Mcmahon, Pierre Mowlem, Henry Musinguzi, Rehema M Mwema, Noeline Nakasujja, Carter P Newman, Lethukuthula L Nkambule, Conor R O'Neil, Ana Maria Olivares, Catherine M Olsen, Linnet Ongeri, Sophie J Parsa, Adele Pretorius, Shengying Qin, Raj Ramesar, Faye L Reagan, Chiara Sabatti, Jacquelyn A Schneider, Welelta Shiferaw, Christine Stevens, Anne Stevenson, Erik Stricker, Rocky E Stroud, Jessie Tang, Megan Townsend, David Whiteman, Mary T Yohannes, Mingrui Yu, Kai Yuan, Dickens Akena, Lukoye Atwoli, Symon M Kariuki, Karestan C Koenen, Charles R J C Newton, Dan J Stein, Solomon Teferra, Zukiswa Zingela, Carlos N Pato, Michele T Pato, Carlos Lopez-Jaramillo, Nelson B Freimer, Roel A Ophoff, Loes M Olde Loohuis, Michael E Talkowski, Benjamin M Neale, Daniel P Howrigan, Alicia R Martin

Duncan NRI Faculty and Staff Publications

Here we developed and deployed the blended genome exome (BGE) method, a DNA library approach that generates low-pass whole-genome (1–4× mean depth) and deep whole-exome (30–40× mean depth) data in a single sequencing run. BGE is cost-effective, empowers most genomic discoveries possible with deep whole-genome sequencing and captures global common single-nucleotide polymorphism diversity. We applied BGE to sequence >53,000 samples from the PUMAS Project (Populations Underrepresented in Mental Illness Associations Studies), including African, African American and Latin American populations. Imputed genotypes showed high concordance with Illumina Global Screening Array calls (R2 ≥ 95% for minor allele frequency ≥1%; …

Extending Genome-Wide Association Studies To Admixed Cohorts With High Degrees Of Relatedness, Taotao Tan, Alejandra Vergara-Lope, José Jaime Martínez-Magaña, Nirav N Shah, Yi-Sian Lin, Kai Yuan, Jaime Berumen, Jesus Alegre-Díaz, Pablo Kuri-Morales, Roberto Tapia-Conyer, Joel Gelenter, Janitza L Montalvo-Ortiz, Wei Zhou, Jason M Torres, Elizabeth G Atkinson

Duncan NRI Faculty and Staff Publications

Admixed populations comprise a large portion of the human population worldwide, but are often excluded from genome-wide association studies (GWASs) due to analytic challenges. Our group developed Tractor, a local-ancestry-informed GWAS tool designed for admixed samples that produces accurate ancestry-specific effect sizes and boosts the discovery power to identify ancestry-enriched loci. However, Tractor operates under an assumption of unrelated samples. Here, to address this gap, we propose Tractor-Mix, which allows for well-calibrated association studies in datasets containing admixed samples with relatedness. Extensive simulations show that this method is competitive with other state-of-the-art approaches that do not produce ancestry-specific results. Empirical …

Hippo Signaling Regulates Cuticle Pigmentation And Dopamine Metabolism In Drosophila, Shelley B Gibson, Samantha L Deal, Ye-Jin Park, Bo Sun, Yanyan Qi, Jung-Wan Mok, Hyung-Lok Chung, Hongjie Li, Shinya Yamamoto

Duncan NRI Faculty and Staff Publications

Pigmentation plays multiple important roles in development, physiology and evolution. Melanization of the insect cuticle requires dopamine as a precursor of melanin and involves key enzymes in dopamine biosynthesis including Tyrosine hydroxylase (TH) and Dopa decarboxylase (Ddc). Some studies have hinted that disruption of the evolutionarily conserved Hippo signaling pathway, which has been primarily studied in the context of tissue growth, may lead to changes in cuticle pigmentation in the fruit fly Drosophila melanogaster. However, to our knowledge, there have not been any systematic investigations into their potential mechanistic links. In this study, we identified that all genes that comprise …

Diabetter Together: Outcomes Of A Randomized Controlled Trial Evaluating A Peer Mentor Behavioral Intervention For Young Adults With Type 1 Diabetes During The Transfer From Pediatric To Adult Care, Marisa E Hilliard, Charles G Minard, Samantha A Carreon, Wendy L Levy, Sarah K Lyons, Randi Streisand, Tricia S Tang, Siripoom V Mckay, Sridevi Devaraj, Barbara J Anderson

Faculty, Staff and Students Publications

Objective: Transition between pediatric and adult health care is complex, with high risk for loss to follow-up and suboptimal health outcomes for young adults with type 1 diabetes. This trial evaluated the efficacy of DiaBetter Together, a 12-month strengths-based behavioral intervention delivered by trained peer mentors. The intervention aimed to help young adults navigate the transfer process to promote optimal glycemic outcomes, shorten time to adult care follow-up, and improve psychosocial outcomes.

Research design and methods: Using a single-site randomized clinical trial design, we compared the 12-month intervention to usual care among n = 100 young adults aged 17-25 years …

Obsessive-Compulsive Training Experiences In United States (Us) Medical School Education Programs, Carlos Valenzuela-Flores, Leanne Maduka, Dale Shepherd, Megan C Alam, Juliana E Avery, Hannah C Moore, Gian Depamphilis, Megan M Dailey, Caitlin M Pinciotti, Andrew D Wiese, Wayne K Goodman, Eric A Storch

Faculty, Staff and Students Publications

Objective: To evaluate the content and structure of OCD-specific training within United States osteopathic (D.O.) and allopathic (M.D.) medical schools. Although many physicians encounter patients with obsessive-compulsive disorder (OCD) in clinical practice, limited familiarity with the full range of OCD presentations, including typical and atypical forms, may contribute to misdiagnosis and delays in accurate diagnosis and treatment.

Methods: Respondents from 35 of the 154 (22.73%) medical schools within the United States (28 (80%) allopathic, 7 (20%) osteopathic schools) completed a survey assessing demographics, school information, and OCD-focused training within medical school curriculums. Descriptives were gathered to characterize the level of …

Global Disparities In Neurosurgical Literature: A Narrative Review Of Underrepresentation Of Low- And Middle-Income Countries And Pathways To Research Equity, Tirath Patel, Naveed Ahmad, Abbas Hussain, Bisma Faraz, Amna Binte Naeem, Urooj Sheraz, Laiba Noor, Saleha Khan, Muhammad Seerat Ali, Nikhilesh Anand

School of Medicine Publications

The global neurosurgical literature is dominated by high-income countries, with low- and middle-income countries (LMICs) contributing minimally despite bearing the most significant share of the neurosurgical disease burden. Underrepresentation limits equitable knowledge dissemination and the relevance of guidelines. The objective of this review was to assess neurosurgical publication disparities, identify deterrents to LMIC participation, and outline initiatives that foster equity and inclusion in research. This narrative review synthesized evidence on global disparities in neurosurgical literature through a structured search of PubMed, Scopus, and Google Scholar (2010–2025). Eligible studies examined research output, authorship trends, publication barriers, or equity initiatives. Findings mapped …