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Articles 241 - 270 of 76837
Full-Text Articles in Medicine and Health Sciences
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
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, …
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
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 …
Ai-Driven Segmentation And Volumetric Response Modeling Of Liver Regions To Radiotherapy, Aashish Chandra Gupta
Ai-Driven Segmentation And Volumetric Response Modeling Of Liver Regions To Radiotherapy, Aashish Chandra Gupta
Dissertations and Theses (Open Access)
In liver-directed radiotherapy (RT), liver regions receiving higher doses typically undergo atrophy while contralateral/adjacent lower-dose regions may exhibit compensatory hypertrophy through regeneration of healthy tissue. Optimizing the RT plan to promote regional hypertrophy while minimizing the risk of developing atrophy has the potential to enhance post-RT liver function and long-term survivorship. However, current clinical practice largely relies on global liver dose-volume metrics during RT-planning, which may obscure favorable dose-response correlation and limit actionable guidance for clinicians. Therefore, we hypothesized that post-RT regional liver response is governed by a combination of region-specific dose-volume and patient clinical features, and that these responses …
The Correlation Between Frequency Of School Lunch Consumption And Bmi Percentile, Brayden Rowland
The Correlation Between Frequency Of School Lunch Consumption And Bmi Percentile, Brayden Rowland
Posters
No abstract provided.
Developing A Deep-Learning Model To Segment White Matter Lesions In Cerebral Palsy, Varsha Kumar, Hyukjin Yun, Rose N. Gelineau-Morel, Avner Meoded
Developing A Deep-Learning Model To Segment White Matter Lesions In Cerebral Palsy, Varsha Kumar, Hyukjin Yun, Rose N. Gelineau-Morel, Avner Meoded
Posters
No abstract provided.
Rural Emergency Department Perspectives On Telemedicine Consultation For Pediatric Emergencies, Caroline Nemechek, Kimberly Randell, Romina Barral, Michelle K. Arzubi-Hughes
Rural Emergency Department Perspectives On Telemedicine Consultation For Pediatric Emergencies, Caroline Nemechek, Kimberly Randell, Romina Barral, Michelle K. Arzubi-Hughes
Posters
No abstract provided.
“We’Re Just Always There For Each Other”: Examining Social Support For African American Caregivers Of Oncology Patients, Madeleine Lee, Keisha White Makinde
“We’Re Just Always There For Each Other”: Examining Social Support For African American Caregivers Of Oncology Patients, Madeleine Lee, Keisha White Makinde
Posters
No abstract provided.
Investigating Postbiotic-Derived Therapies For Necrotizing Enterocolitis In Infants, Ilan Reichbart, Marianne N. Nsumu, Joshua Wheatley, Susana Chavez-Bueno, Alain Cuna
Investigating Postbiotic-Derived Therapies For Necrotizing Enterocolitis In Infants, Ilan Reichbart, Marianne N. Nsumu, Joshua Wheatley, Susana Chavez-Bueno, Alain Cuna
Posters
No abstract provided.
Operationalizing Frailty: A Comparison Of Measurement Frameworks, Audrey P. Doege, Madeline Donnelli, Daniel Forsha, Thomas Cochran, William R. Black, David A. White
Operationalizing Frailty: A Comparison Of Measurement Frameworks, Audrey P. Doege, Madeline Donnelli, Daniel Forsha, Thomas Cochran, William R. Black, David A. White
Posters
No abstract provided.
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
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
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
Cartilage Ring Formation In Chick Trachea, Yashica Sharma, Samuel Q. Mellentine, John Dahl, Jennifer C. Kasemeier
Posters
No abstract provided.
An Update On The Role Of Multimodal Analgesia In Perioperative Pain Management, Whitney N. Kuwamoto, Grace C. Eddy, Edward R. Mariano, Eric S. Schwenk
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
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. …
In Reply To The Letter To The Editor Regarding "The Effect Of Glp-1 Receptor Agonists On Reoperation Following Anterior Cervical Discectomy And Fusion", Nicholas C. Bank, Daniel Whittingslow, Sam Duggan, Joshua L. Morningstar, Douglas S. Weinberg
In Reply To The Letter To The Editor Regarding "The Effect Of Glp-1 Receptor Agonists On Reoperation Following Anterior Cervical Discectomy And Fusion", Nicholas C. Bank, Daniel Whittingslow, Sam Duggan, Joshua L. Morningstar, Douglas S. Weinberg
Student Papers, Posters & Projects
No abstract available
Emergency Medical Services Mental Health: Causes Of Providers Leaving The Industry, Brian C. Selke
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 …
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
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 …
"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
"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
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 …
Ecmo Use In Infants With Bronchopulmonary Dysplasia: A Literature Review., John Ibrahim, Nicholas Carr, Franscesca Miquel Verges, Natalie Rintoul, Robert Digeronimo, John M. Daniel Iv, Sarah Keene, Burhan Mahmood
Ecmo Use In Infants With Bronchopulmonary Dysplasia: A Literature Review., John Ibrahim, Nicholas Carr, Franscesca Miquel Verges, Natalie Rintoul, Robert Digeronimo, John M. Daniel Iv, Sarah Keene, Burhan Mahmood
Manuscripts, Articles, Book Chapters and Other Papers
Bronchopulmonary dysplasia (BPD) is a leading cause of chronic respiratory failure in infants. Severe BPD is associated with prolonged mechanical ventilation, pulmonary hypertension, and high morbidity and mortality. As disease severity increases, extracorporeal membrane oxygenation (ECMO) is being reconsidered as a potential rescue therapy. Historically, ECMO has been reserved for neonates with reversible respiratory failure and those who required mechanical ventilation for less than 14 days, while infants with BPD were excluded. However, advancements in ECMO technology, anticoagulation strategies, and ventilatory management have led to a reassessment of its role in this population. Emerging reports suggest ECMO may serve as …
Impact Of Trisomy 21 On Post Pull-Through Enterocolitis And Bowel Function In Children With Hirschsprung Disease: A Pcplc Analysis., Marshall W. Wallace, Scott S. Short, Rachel C. Crady, Ron W. Reeder, Hira Ahmad, Kelly Austin, Andrea Badillo, Casey M. Calkins, Megan M. Durham, Julie R. Fuchs, Christopher Gayer, Julia E. Grabowski, Jamie C. Harris, Charles R. Hong, Ankur Rana, Rebecca M. Rentea, Nelson Rosen, Payam Saadai, Caitlin A. Smith, K Elizabeth Speck, Cristine S. Velazco, Richard J. Wood, Michael D. Rollins
Impact Of Trisomy 21 On Post Pull-Through Enterocolitis And Bowel Function In Children With Hirschsprung Disease: A Pcplc Analysis., Marshall W. Wallace, Scott S. Short, Rachel C. Crady, Ron W. Reeder, Hira Ahmad, Kelly Austin, Andrea Badillo, Casey M. Calkins, Megan M. Durham, Julie R. Fuchs, Christopher Gayer, Julia E. Grabowski, Jamie C. Harris, Charles R. Hong, Ankur Rana, Rebecca M. Rentea, Nelson Rosen, Payam Saadai, Caitlin A. Smith, K Elizabeth Speck, Cristine S. Velazco, Richard J. Wood, Michael D. Rollins
Manuscripts, Articles, Book Chapters and Other Papers
INTRODUCTION: We evaluated whether Trisomy 21 (T21) affected bowel management use, ability to toilet train for stool, and rates of Hirschsprung-Associated Enterocolitis (HAEC) in children with Hirschsprung disease (HD). We hypothesized that T21 would be associated with increased rates of HAEC, bowel management program (BMP) use, and delayed toilet training for stool.
METHODS: Children with HD in the Pediatric Colorectal and Pelvic Learning Consortium (PCPLC) database who underwent primary pull-through were included and stratified by T21 status: HD only versus HD + T21. Children requiring a redo pull-through, initially managed with a stoma, or those who had inadequate follow-up were …
Are We Winning At Twinning? Persistent Cni Use In Identical Kidney Transplants., Nicholas S. Herrera, Shivani Wadnerkar, Diane M. Cibrik
Are We Winning At Twinning? Persistent Cni Use In Identical Kidney Transplants., Nicholas S. Herrera, Shivani Wadnerkar, Diane M. Cibrik
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: Calcineurin inhibitors (CNIs) revolutionized kidney transplantation by reducing acute rejection rates. Identical twin kidney transplantation is the only setting in which the allograft is immunologically indistinguishable from self, yet CNI use persists. We characterized CNI utilization across end-stage kidney disease etiologies and examined whether CNI exposure was associated with reduced rejection or improved death-censored graft survival (DCGS).
METHODS: We performed a retrospective cohort study using scientific registry of transplant recipients data (January 2000-August 2025). Among 255 adult identical twin kidney transplant recipients, discharge regimens were categorized by CNI use; Firth penalized Cox regression was the primary method for 10-year …
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
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 …
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
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%; …
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
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
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 …
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
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 …
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
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
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
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 …