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Articles 5671 - 5700 of 76841

Full-Text Articles in Medical Specialties

Variants In Cald1, Esrp1, And Rbfox1 Are Associated With Orofacial Cleft Risk, Jenna C Carlson, Xinyi Zhang, Zeynep Erdogan-Yildirim, Terri H Beaty, Azeez Butali, Carmen J Buxó, Lord J J Gowans, Jacqueline T Hecht, Ross E Long, Lina Moreno, Jeffrey C Murray, Ieda M Orioli, Carmencita Padilla, George L Wehby, Eleanor Feingold, Elizabeth J Leslie-Clarkson, Seth M Weinberg, Mary L Marazita, John R Shaffer Sep 2025

Variants In Cald1, Esrp1, And Rbfox1 Are Associated With Orofacial Cleft Risk, Jenna C Carlson, Xinyi Zhang, Zeynep Erdogan-Yildirim, Terri H Beaty, Azeez Butali, Carmen J Buxó, Lord J J Gowans, Jacqueline T Hecht, Ross E Long, Lina Moreno, Jeffrey C Murray, Ieda M Orioli, Carmencita Padilla, George L Wehby, Eleanor Feingold, Elizabeth J Leslie-Clarkson, Seth M Weinberg, Mary L Marazita, John R Shaffer

Faculty, Staff and Student Publications

Nonsyndromic orofacial clefts (OFCs) are common, heritable birth defects caused by both genetic and environmental risk factors. Despite the identification of many genetic loci harboring OFC-risk variants, there are many unknown genetic determinants of OFC. Furthermore, while the process of embryonic facial development is well characterized, the molecular mechanisms that underly it are not. This represents a major hurdle in understanding how disruptions in these biological processes result in OFC. Thus, we sought to identify novel OFC-risk loci through a genome-wide multi-ancestry study of five nested OFC phenotypes (isolated cleft lip [CLO], isolated cleft palate [CPO], cleft lip and palate …


In Situ Programming Of The Tumor Microenvironment To Alleviate Immunosuppression For Pancreatic Cancer Immunotherapy, Man Sun, Huan Zhang, Yarui Ma, Simiao Wang, Jiayi Chen, Yaxin Cui, Yun Zhang, Siyuan Hu, Dan Zhou, Pengchen Zhang, Yahui Liu, Betty Y S Kim, Wen Jiang, Xiaobing Wang, Zhaogang Yang Sep 2025

In Situ Programming Of The Tumor Microenvironment To Alleviate Immunosuppression For Pancreatic Cancer Immunotherapy, Man Sun, Huan Zhang, Yarui Ma, Simiao Wang, Jiayi Chen, Yaxin Cui, Yun Zhang, Siyuan Hu, Dan Zhou, Pengchen Zhang, Yahui Liu, Betty Y S Kim, Wen Jiang, Xiaobing Wang, Zhaogang Yang

Faculty, Staff and Student Publications

Recent studies have highlighted the pivotal role of the cGAS‐STING pathway in cancer immunotherapy. However, clinical trials with cGAS‐STING pathway agonists have faced setbacks thanks to their short biological half‐life, lack of tumor specificity, and potential to promote tumor immune evasion. To address these challenges, a novel exosome‐based drug delivery platform, termed cmExoaCD11b is developed, designed to precisely target and reprogram the tumor microenvironment (TME) in situ for pancreatic cancer immunotherapy. cmExoaCD11b is engineered to encapsulate high copy numbers of IL‐12 mRNA and 2′3’‐cGAMP (cGAMP) and is functionalized with CD11b antibodies for targeted delivery to macrophages. Notably, cmExoaCD11b facilitated the …


The Late Positive Potential Predicts Contingency Management Outcomes For Cocaine Use Disorder, Heather E Webber, Douglas J Calvillo, Francesco Versace, Constanza De Dios, Robert Suchting, Charles E Green, Scott D Lane, Joy M Schmitz Sep 2025

The Late Positive Potential Predicts Contingency Management Outcomes For Cocaine Use Disorder, Heather E Webber, Douglas J Calvillo, Francesco Versace, Constanza De Dios, Robert Suchting, Charles E Green, Scott D Lane, Joy M Schmitz

Faculty, Staff and Student Publications

Contingency management (CM) relies on motivation and reward processing and is among the most effective treatments available for cocaine use disorder (CUD), yet success rates do not meet desired clinical efficacy. To improve treatment-individual fit, we investigated the late positive potential (LPP), a measure of incentive salience to cues, as a predictor of treatment response. Treatment-seeking adults with CUD (N = 58) completed an EEG task where they viewed pleasant, unpleasant, cocaine, and neutral images. Participants received CM and counseling for four weeks. Urine was collected thrice weekly. We defined incentive salience to cues by A) cluster analyses on LPP …


Sex Disparities In Chlamydia And Gonorrhea Treatment In Us Adult Emergency Departments: A Systematic Review And Meta-Analysis, Rachel E Solnick, Rahi Patel, Ethan Chang, Carmen Vargas-Torres, Maaz Munawar, Carlin Pendell, Judith E Smith, Ethan Cowan, Keith E Kocher, Roland C Merchant Sep 2025

Sex Disparities In Chlamydia And Gonorrhea Treatment In Us Adult Emergency Departments: A Systematic Review And Meta-Analysis, Rachel E Solnick, Rahi Patel, Ethan Chang, Carmen Vargas-Torres, Maaz Munawar, Carlin Pendell, Judith E Smith, Ethan Cowan, Keith E Kocher, Roland C Merchant

Faculty, Staff and Student Publications

BACKGROUND: Empiric antibiotic treatment for gonorrhea (GC) and chlamydia (CT) is common in U.S. emergency departments (EDs) due to the delayed availability of test results. Local studies have identified sex-based disparities in sexually transmitted infection (STI) care, with females potentially receiving less empiric treatment than males. This study evaluates how STI treatment aligns with laboratory-confirmed results to quantify potential overtreatment and undertreatment rates and investigates sex differences for these outcomes.

METHODS: We conducted a preregistered (PROSPERO #241429) systematic review and meta-analysis of studies published between January 2010 and January 2025 in U.S. EDs, excluding studies conducted exclusively in pediatric settings. …


Routine Antenatal Ultrasound By Nurse-Midwives In Rural Kenya: A Pragmatic Trial Assessing Feasibility And Effects Of The Mimba Yangu (My Pregnancy) Project, Claudia Hanson, Lucy Nyaga, Nidhi Leekha, Michaela Mantel, Sarah Kedenge, Caroline Gitonga, Violet Naanyu, Jasmit Shah, Marleen Temmerman Sep 2025

Routine Antenatal Ultrasound By Nurse-Midwives In Rural Kenya: A Pragmatic Trial Assessing Feasibility And Effects Of The Mimba Yangu (My Pregnancy) Project, Claudia Hanson, Lucy Nyaga, Nidhi Leekha, Michaela Mantel, Sarah Kedenge, Caroline Gitonga, Violet Naanyu, Jasmit Shah, Marleen Temmerman

Centre of Excellence in Women and Child Health

Introduction: Task-sharing of obstetric ultrasound between nurse-midwives and doctors has the potential to operationalize the World Health Organization’s recommendation of at least one ultrasound before 24 weeks of gestational age for every pregnant woman. Here, we report on the feasibility, acceptability, and effects of the Mimba Yangu (My Pregnancy) task-sharing approach in rural Kenya.

Methods: We conducted a pragmatic trial including 28 primary care facilities between April 2021 and March 2022, selected based on feasibility criteria. Fourteen facilities received the ultrasound intervention composed of (i) task-sharing with nurse-midwives, (ii) the use of portable ultrasound devices (Lumify™) connected to a tablet, …


Catheter Erosion Through The Rectum 8 Years After Uncomplicated Ventriculoperitoneal Shunt Placement: Illustrative Case, Matthew Wierzbicki, India Shelley, Matthews Lan, Aria Mahtabfar, Christopher J. Farrell Sep 2025

Catheter Erosion Through The Rectum 8 Years After Uncomplicated Ventriculoperitoneal Shunt Placement: Illustrative Case, Matthew Wierzbicki, India Shelley, Matthews Lan, Aria Mahtabfar, Christopher J. Farrell

Department of Neurosurgery Faculty Papers

BACKGROUND: Distal bowel perforation by peritoneal catheter (BPPC) is a rare complication following ventriculoperitoneal shunt (VPS) placement for the treatment of hydrocephalus. In some cases, BPPC may present with extrusion through the anus and can occur years after VPS placement.

OBSERVATIONS: The authors report the case of a 30-year-old woman who had a VPS placed 8 years prior and found a catheter protruding from her rectum. Having pulled out 1 foot of catheter, she presented to the hospital where the shunt was externalized before concurrent VPS removal and laparotomy to repair the bowel perforation.

LESSONS: BPPC with anal extrusion is …


Personalised Learning In Medical Education – A Futuristic Model For Individual Learning Styles, Sujatha Mahadevarao Premnath, Ashwin Chand Ravichandran, Sivaa Rajendran Sep 2025

Personalised Learning In Medical Education – A Futuristic Model For Individual Learning Styles, Sujatha Mahadevarao Premnath, Ashwin Chand Ravichandran, Sivaa Rajendran

Digital Journal of Clinical Medicine

Medical education is transitioning from the traditional teacher-centred to a student-centred model, and an approach that caters to the diverse needs of the learner is necessary to meet these needs. Personalised learning is one such strategy that offers learning content based on individual profiles, learning styles, pace, and competency gaps. Here, the individual student receives content based on their preference, where the content can be created by educators leveraging technology, an adaptive learning platform, and artificial intelligence. It provides an inclusive and efficient learning platform that helps in creating more efficient medical graduates. This article explores the concept of personalized …


Leveraging Existing Cohort Studies Of Mexican Women To Better Understand Hispanic Health And Cancer Risk, Dalia Stern, Liliana Gomez-Flores-Ramos, Britton Trabert, V Wendy Setiawan, Loïc Le Marchand, Henry Gomez, Paul A Scheet, Humberto Parada, Amber Pirzada, Martin Lajous, Leslie V Farland Sep 2025

Leveraging Existing Cohort Studies Of Mexican Women To Better Understand Hispanic Health And Cancer Risk, Dalia Stern, Liliana Gomez-Flores-Ramos, Britton Trabert, V Wendy Setiawan, Loïc Le Marchand, Henry Gomez, Paul A Scheet, Humberto Parada, Amber Pirzada, Martin Lajous, Leslie V Farland

Faculty, Staff and Student Publications

Background: Hispanics have been historically underrepresented in epidemiologic cancer research. Existing cohort studies focused on recruiting Hispanic participants have been relatively small, making studying cancer outcomes challenging. Therefore, we aimed to compare the distribution of cancer risk factors among Hispanic women of Mexican heritage (HWMH) participating in existing cohorts to explore the possibility of future data pooling efforts.

Methods: We used baseline data of HWMH from three US-based studies, the Mexican American Cohort (MAC; n = 19,797; 2001-2017), the Multiethnic Cohort (MEC; n = 18,007; 1993-1996), and the Hispanic Community Health Study/Study of Latinos (HCHS/SOL; n = 4,022; 2008-2011), and …


Ai-Powered Model For Accurate Prediction Of Mci-To-Ad Progression, Ahmed Abdelhameed, Jingna Feng, Xinyue Hu, Fang Li, Sori Lundin, Paul E Schulz, Cui Tao Sep 2025

Ai-Powered Model For Accurate Prediction Of Mci-To-Ad Progression, Ahmed Abdelhameed, Jingna Feng, Xinyue Hu, Fang Li, Sori Lundin, Paul E Schulz, Cui Tao

Faculty, Staff and Student Publications

Alzheimer's disease (AD) remains a formidable challenge in modern healthcare, necessitating innovative approaches for its early detection and intervention. This study aimed to enhance the identification of individuals with mild cognitive impairment (MCI) at risk of developing AD. Leveraging advances in computational power and the extensive availability of healthcare data, we explored the potential of deep learning models for early prediction using medical claims data. We employed a bidirectional gated recurrent unit (BiGRU) deep learning model for predictive modeling of MCI progression across various prediction intervals, extending up to five years post-initial MCI diagnosis. The performance of the BiGRU model …


Silent Damage, Early Signals: A Narrative Review Of The Evolving Role Of Cardiac Biomarkers In Oncology-Driven Cardiotoxicity, Aura Calderon, Luis Salcedo, Jose Loayza, Catherine Matos, Ivan Mogollon, Francisco Arias, Everardo Cobos Sep 2025

Silent Damage, Early Signals: A Narrative Review Of The Evolving Role Of Cardiac Biomarkers In Oncology-Driven Cardiotoxicity, Aura Calderon, Luis Salcedo, Jose Loayza, Catherine Matos, Ivan Mogollon, Francisco Arias, Everardo Cobos

School of Medicine Publications

Advancements in cancer therapy have led to improved patient survival but have also introduced an increasing risk of cardiotoxicity, particularly with agents such as anthracyclines, trastuzumab, and various targeted treatments. Cardiotoxic effects may present as myocardial injury, systolic or diastolic dysfunction, or heart failure (HF), often developing insidiously before clinical symptoms become evident. Early detection is therefore crucial to preserve cardiovascular health in oncology patients. This narrative review examines the expanding role of cardiac biomarkers; including high-sensitivity troponins, natriuretic peptides, Galectin-3, soluble ST2, and novel molecular markers like microRNAs, in identifying and monitoring chemotherapy-induced cardiac injury. It also highlights how …


Appreciating The Lotp Study: Further Refining Scope-Of-Practice Analysis., Eduardo Rivé Lockwood Sep 2025

Appreciating The Lotp Study: Further Refining Scope-Of-Practice Analysis., Eduardo Rivé Lockwood

Ambulatory and Primary Care Articles

No abstract provided.


Enhancing Patient Outcomes: Developing A Comprehensive Database For Tracking Post- Dural Puncture Headache Incidence And Contributing Factors, Meredith B. Auge, Brittany Bogonovich Aug 2025

Enhancing Patient Outcomes: Developing A Comprehensive Database For Tracking Post- Dural Puncture Headache Incidence And Contributing Factors, Meredith B. Auge, Brittany Bogonovich

Doctor of Nurse Anesthesia Practice (DNAP) Manuscripts

Post-dural puncture headache (PDPH) is a debilitating complication following labor analgesia, often resulting from unintentional dural puncture (UDP). While national incidence is approximately 1.5%, institutional rates may vary due to provider experience, documentation practices, and patient factors. This Doctor of Nurse Anesthesia Practice (DNAP) quality improvement project aimed to improve identification and monitoring of UDP and PDPH through a revised tracking tool, retrospective review of 2024 data, and planning for an electronic registry. A multidisciplinary team of anesthesiologists, Certified Registered Nurse Anesthetists (CRNAs), Student Registered Nurse Anesthetists (SRNAs), and IT and quality specialists revised an existing tracking tool to better …


"Improved Obstetric Hemorrhage Care Through Toolkit Revision: A Quality Improvement Project", Amber M. Woodring, Samantha Kalkstein Aug 2025

"Improved Obstetric Hemorrhage Care Through Toolkit Revision: A Quality Improvement Project", Amber M. Woodring, Samantha Kalkstein

Doctor of Nurse Anesthesia Practice (DNAP) Manuscripts

Obstetric hemorrhage (OBH) remains a leading cause of preventable maternal morbidity and mortality in the United States. Accurate risk identification is critical for initiating timely interventions; however, current risk assessment practices vary significantly. This quality improvement (QI) project aimed to implement the California Maternal Quality Care Collaborative (CMQCC) OBH Risk Assessment Tool on the labor and delivery (L&D) unit of a community-based hospital to standardize risk stratification and improve interdisciplinary communication. Guided by the Johns Hopkins Nursing Evidence-Based Practice model, the project involved a gap analysis, staff education, and the introduction of a paper-based CMQCC tool formatted for visibility and …


Utilizing Simulation Training To Understand Maternal Cardiac Arrest Precipitated By Amniotic Fluid Embolism: A Quality Improvement Project, Erica L. Wright, Megan L. Tiernan, Michael W. Neft, Paige Spagiare, Erica Coffin Aug 2025

Utilizing Simulation Training To Understand Maternal Cardiac Arrest Precipitated By Amniotic Fluid Embolism: A Quality Improvement Project, Erica L. Wright, Megan L. Tiernan, Michael W. Neft, Paige Spagiare, Erica Coffin

Doctor of Nurse Anesthesia Practice (DNAP) Manuscripts

Background and Problem: Maternal cardiac arrest precipitated by amniotic fluid embolism is among the leading direct causes of death among laboring women (Enomoto et al., 2022). Because it presents suddenly without any immediate apparent cause and lacks specific diagnostic tests, frontline obstetric caregivers must be vigilant, competent, and prepared to handle this potentially catastrophic emergency. Coordination among multiple disciplines is paramount since two lives, not just one, are at risk. Unfortunately, the rarity of maternal cardiac arrest significantly limits opportunities for staff to learn how to identify and manage these events successfully. Method: This quality improvement project established a simulation-based …


Auprc: A Metric For Evaluating The Performance Of In-Silico Perturbation Methods In Identifying Differentially Expressed Genes, Hongxu Zhu, Amir Asiaee, Leila Azinfar, Jun Li, Han Liang, Ehsan Irajizad, Kim-Anh Do, James P Long Aug 2025

Auprc: A Metric For Evaluating The Performance Of In-Silico Perturbation Methods In Identifying Differentially Expressed Genes, Hongxu Zhu, Amir Asiaee, Leila Azinfar, Jun Li, Han Liang, Ehsan Irajizad, Kim-Anh Do, James P Long

Faculty, Staff and Student Publications

In silico perturbation models, computational methods that can predict cellular responses to perturbations, present an opportunity to reduce the need for costly and time-intensive in vitro experiments. Many recently proposed models predict high-dimensional cellular responses, such as gene or protein expression to perturbations such as gene knockout or drugs. However, evaluating in silico performance has largely relied on metrics such as $R^{2}$, which assess overall prediction accuracy but fail to capture biologically significant outcomes like the identification of differentially expressed (DE) genes. In this study, we present a novel evaluation framework that introduces the AUPRC metric to assess the precision …


Expression Graph Network Framework For Biomarker Discovery, Yang Liu, Jason Huse, Kasthuri Kannan Aug 2025

Expression Graph Network Framework For Biomarker Discovery, Yang Liu, Jason Huse, Kasthuri Kannan

Faculty, Staff and Student Publications

Biomarker discovery for complex diseases, such as cancer, hinges on uncovering molecular signatures that capture intricate, interconnected relationships within biological data-a challenge that traditional statistical and machine learning methods often fail to meet due to the complexity of high-dimensional gene expression profiles. To overcome this, we introduce the expression graph network framework (EGNF). This cutting-edge graph-based approach integrates graph neural networks with network-based feature engineering to enhance the predictive identification of biomarkers. EGNF constructs biologically informed networks by combining gene expression data and clinical attributes within a graph database, utilizing hierarchical clustering to generate dynamic, patient-specific representations of molecular interactions. …


Biomarkers For The Diagnosis Of Indeterminate Pulmonary Nodules: Are We There Yet?, Kevin C Mcgann, Timothy A Khalil, Michael N Kammer, Edwin J Ostrin, Harvey I Pass, Jun-Chieh James Tsay, Leopoldo N Segal, Melissa Potter, Stephen A Deppen, Fabien Maldonado, Eric L Grogan Aug 2025

Biomarkers For The Diagnosis Of Indeterminate Pulmonary Nodules: Are We There Yet?, Kevin C Mcgann, Timothy A Khalil, Michael N Kammer, Edwin J Ostrin, Harvey I Pass, Jun-Chieh James Tsay, Leopoldo N Segal, Melissa Potter, Stephen A Deppen, Fabien Maldonado, Eric L Grogan

Faculty, Staff and Student Publications

Indeterminate pulmonary nodules (IPNs), which are nodules that cannot be classified as definitively benign or malignant at the time of detection, are now diagnosed on the order of millions per year. Management of IPNs remains heavily debated, and routine practice ultimately involves some balance of overall clinical risk assessment and additional diagnostic tests or procedures which may generate significant risk, cost, and worry. Biomarkers are biologically based tests or indicators capable of accurately characterizing the physiologic properties of homeostasis and disease that are not otherwise easily evaluated by the clinician. Accurate biomarkers thereby serve as reliable surrogates for biological aberrancy, …


Longitudinal Meta-Cohort Study Protocol Using Systems Biology To Identify Vaccine Safety Biomarkers, Joann Diray-Arce, Ana C Chang, Sara Moradipoor, Donato Amodio, Bruce Carleton, Wan-Chun Chang, Nigel W Crawford, Meagan Karoly, Annmarie Hoch, Kerry Mcenaney, Tahir S Kafil, Mahitha Donthireddy, Sarah K Steltz, Simon D Van Haren, Asimenia Angelidou, Kinga K Smolen, Hanno Steen, Jessica Lasky-Su, Huyen Tran, Peter Liu, C Buddy Creech, Clare L Cutland, Helen Petousis-Harris, Ishac Nazy, Rae S M Yeung, Sonali Kochhar, Steve Black, Nicholas Wood, Dale Nordenberg, Paolo Palma, Inna G Ovsyannikova, Richard B Kennedy, Gregory A Poland, Al Ozonoff, Robert T Chen, Ofer Levy, Karina A Top, International Network Of Special Immunization Services (Insis) Members Aug 2025

Longitudinal Meta-Cohort Study Protocol Using Systems Biology To Identify Vaccine Safety Biomarkers, Joann Diray-Arce, Ana C Chang, Sara Moradipoor, Donato Amodio, Bruce Carleton, Wan-Chun Chang, Nigel W Crawford, Meagan Karoly, Annmarie Hoch, Kerry Mcenaney, Tahir S Kafil, Mahitha Donthireddy, Sarah K Steltz, Simon D Van Haren, Asimenia Angelidou, Kinga K Smolen, Hanno Steen, Jessica Lasky-Su, Huyen Tran, Peter Liu, C Buddy Creech, Clare L Cutland, Helen Petousis-Harris, Ishac Nazy, Rae S M Yeung, Sonali Kochhar, Steve Black, Nicholas Wood, Dale Nordenberg, Paolo Palma, Inna G Ovsyannikova, Richard B Kennedy, Gregory A Poland, Al Ozonoff, Robert T Chen, Ofer Levy, Karina A Top, International Network Of Special Immunization Services (Insis) Members

Faculty, Staff and Students Publications

The International Network of Special Immunization Services (INSIS) was established to investigate the causes and risk factors of rare adverse events following immunizations (AEFIs) and develop immunization strategies for mitigating or preventing risk for individuals with prior AEFIs or at risk of AEFIs. INSIS integrates clinical data with multi-omic technologies (e.g., transcriptomics, proteomics, metabolomics) through a global consortium of clinical networks, leading immunology, pharmacogenomics teams to uncover the molecular mechanisms behind AEFIs. The network ensures accurate and standardized data collection and analysis through rigorous data management and quality assurance processes. INSIS also implements harmonized case definitions and protocols for collecting …


Whole-Genome Sequence-Based Association Analysis Of African American Individuals With Bipolar Disorder And Schizophrenia, Runjia Li, Sarah A Gagliano Taliun, Kevin Liao, Matthew Flickinger, Janet L Sobell, Giulio Genovese, Adam E Locke, Rebeca Rothwell Chiu, Jonathon Lefaive, Jiongming Wang, Taylor Martins, Sinéad Chapman, Anna Neumann, Robert E Handsaker, Donna K Arnett, Kathleen C Barnes, Eric Boerwinkle, David Braff, Brian E Cade, Myriam Fornage, Richard A Gibbs, Karin F Hoth, Lifang Hou, Charles Kooperberg, Ruth J F Loos, Ginger A Metcalf, Courtney G Montgomery, Alanna C Morrison, Zhaohui S Qin, Susan Redline, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Karine A Viaud-Martinez, National Heart, Lung, And Blood Institute Trans-Omics For Precision Medicine (Topmed) Consortium;, Genomic Psychiatry Cohort Investigators, Tim B Bigdeli, Stacey Gabriel, Sebastian Zollner, Albert V Smith, Goncalo Abecasis, Steve A Mccarroll, Michele T Pato, Carlos N Pato, Michael Boehnke, James Knowles, Hyun Min Kang, Roel A Ophoff, Jason Ernst, Laura J Scott Aug 2025

Whole-Genome Sequence-Based Association Analysis Of African American Individuals With Bipolar Disorder And Schizophrenia, Runjia Li, Sarah A Gagliano Taliun, Kevin Liao, Matthew Flickinger, Janet L Sobell, Giulio Genovese, Adam E Locke, Rebeca Rothwell Chiu, Jonathon Lefaive, Jiongming Wang, Taylor Martins, Sinéad Chapman, Anna Neumann, Robert E Handsaker, Donna K Arnett, Kathleen C Barnes, Eric Boerwinkle, David Braff, Brian E Cade, Myriam Fornage, Richard A Gibbs, Karin F Hoth, Lifang Hou, Charles Kooperberg, Ruth J F Loos, Ginger A Metcalf, Courtney G Montgomery, Alanna C Morrison, Zhaohui S Qin, Susan Redline, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Karine A Viaud-Martinez, National Heart, Lung, And Blood Institute Trans-Omics For Precision Medicine (Topmed) Consortium;, Genomic Psychiatry Cohort Investigators, Tim B Bigdeli, Stacey Gabriel, Sebastian Zollner, Albert V Smith, Goncalo Abecasis, Steve A Mccarroll, Michele T Pato, Carlos N Pato, Michael Boehnke, James Knowles, Hyun Min Kang, Roel A Ophoff, Jason Ernst, Laura J Scott

Faculty, Staff and Students Publications

In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole-genome sequencing (∼27X) of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study). We increased power by incorporating 14,812 jointly called psychiatrically unscreened ancestry-matched controls from the Trans-Omics for Precision Medicine (TOPMed) Program for a total of …


Whole-Genome Sequence-Based Association Analysis Of African American Individuals With Bipolar Disorder And Schizophrenia, Runjia Li, Sarah A Gagliano Taliun, Kevin Liao, Matthew Flickinger, Janet L Sobell, Giulio Genovese, Adam E Locke, Rebeca Rothwell Chiu, Jonathon Lefaive, Jiongming Wang, Taylor Martins, Sinéad Chapman, Anna Neumann, Robert E Handsaker, Donna K Arnett, Kathleen C Barnes, Eric Boerwinkle, David Braff, Brian E Cade, Myriam Fornage, Richard A Gibbs, Karin F Hoth, Lifang Hou, Charles Kooperberg, Ruth J F Loos, Ginger A Metcalf, Courtney G Montgomery, Alanna C Morrison, Zhaohui S Qin, Susan Redline, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Karine A Viaud-Martinez, Tim B Bigdeli, Stacey Gabriel, Sebastian Zollner, Albert V Smith, Goncalo Abecasis, Steve A Mccarroll, Michele T Pato, Carlos N Pato, Michael Boehnke, James Knowles, Hyun Min Kang, Roel A Ophoff, Jason Ernst, Laura J Scott Aug 2025

Whole-Genome Sequence-Based Association Analysis Of African American Individuals With Bipolar Disorder And Schizophrenia, Runjia Li, Sarah A Gagliano Taliun, Kevin Liao, Matthew Flickinger, Janet L Sobell, Giulio Genovese, Adam E Locke, Rebeca Rothwell Chiu, Jonathon Lefaive, Jiongming Wang, Taylor Martins, Sinéad Chapman, Anna Neumann, Robert E Handsaker, Donna K Arnett, Kathleen C Barnes, Eric Boerwinkle, David Braff, Brian E Cade, Myriam Fornage, Richard A Gibbs, Karin F Hoth, Lifang Hou, Charles Kooperberg, Ruth J F Loos, Ginger A Metcalf, Courtney G Montgomery, Alanna C Morrison, Zhaohui S Qin, Susan Redline, Alexander P Reiner, Stephen S Rich, Jerome I Rotter, Kent D Taylor, Karine A Viaud-Martinez, Tim B Bigdeli, Stacey Gabriel, Sebastian Zollner, Albert V Smith, Goncalo Abecasis, Steve A Mccarroll, Michele T Pato, Carlos N Pato, Michael Boehnke, James Knowles, Hyun Min Kang, Roel A Ophoff, Jason Ernst, Laura J Scott

Faculty, Staff and Student Publications

In studies of individuals of primarily European genetic ancestry, common and low-frequency variants and rare coding variants have been found to be associated with the risk of bipolar disorder (BD) and schizophrenia (SZ). However, less is known for individuals of other genetic ancestries or the role of rare non-coding variants in BD and SZ risk. We performed whole-genome sequencing (∼27X) of African American individuals: 1,598 with BD, 3,295 with SZ, and 2,651 unaffected controls (InPSYght study). We increased power by incorporating 14,812 jointly called psychiatrically unscreened ancestry-matched controls from the Trans-Omics for Precision Medicine (TOPMed) Program for a total of …


Can Artificial Intelligence Models Provide Reliable Medical Counselling To Fertility Patients?, Idan Alcalay, Ariel Weissman, Hadas Ganer Herman, Avi Tsafrir, Matan Friedman, Eran Weiner, Raoul Orvieto, Nikolaos P. Polyzos, Michael H. Dahan, Alex Polyakov, Robert Fischer, Sandro C. Esteves, Baris Ata, Jason M. Franasiak, Yossi Mizrachi Aug 2025

Can Artificial Intelligence Models Provide Reliable Medical Counselling To Fertility Patients?, Idan Alcalay, Ariel Weissman, Hadas Ganer Herman, Avi Tsafrir, Matan Friedman, Eran Weiner, Raoul Orvieto, Nikolaos P. Polyzos, Michael H. Dahan, Alex Polyakov, Robert Fischer, Sandro C. Esteves, Baris Ata, Jason M. Franasiak, Yossi Mizrachi

Department of Obstetrics and Gynecology Faculty Papers

RESEARCH QUESTION: Can generative artificial intelligence (AI) models provide reliable counselling to fertility patients regarding real-world clinical questions?

DESIGN: In this cross-sectional study, 12 clinical questions were developed to reflect common, real-life dilemmas encountered during fertility workup and treatment. Responses to each question were generated by two experienced fertility specialists, and two AI models - ChatGPT and Gemini. Eight leading internationally recognized fertility experts, blinded to the source of each reply, independently rated all the responses on a scale from 1 (strongly disagree) to 10 (strongly agree). Ratings were compared across all four repliers using non-parametric statistical tests.

RESULTS: The …


Deciphering Transcriptomic Changes In Chemobrain: A Comprehensive Review, Tusar Kanta Acharya, Yuan Pan, Peter M Grace, Cobi J Heijnen, Rajasekaran Mahalingam Aug 2025

Deciphering Transcriptomic Changes In Chemobrain: A Comprehensive Review, Tusar Kanta Acharya, Yuan Pan, Peter M Grace, Cobi J Heijnen, Rajasekaran Mahalingam

Faculty, Staff and Student Publications

Chemotherapy-induced cognitive impairments (CICI), colloquially known as "chemobrain," represents a profound and debilitating side effect experienced by a significant number of cancer survivors, impacting their memory, multitasking, and quality of life. This review critically evaluates the molecular mechanisms underlying CICI, with a particular focus on the insights gained from transcriptomic analyses. As cancer incidence rises globally, understanding the complex interplay between chemotherapy agents and their cognitive repercussions becomes increasingly vital. Key mechanisms implicated in CICI include blood-brain barrier disruption, neuroinflammation, and oxidative stress as a result of various chemotherapy treatments, such as doxorubicin, cisplatin, and paclitaxel. We delve into advanced …


Cross-Platform Transcriptomic Data Integration Identifies An Overactive Neuro-Immune Signature In Human Osteoarthritis Synovium, Michael D Newton, Hannah Swahn, Dana E Orange, Joseph B Lesnak, Theodore J Price, Anne-Marie Malfait, Rachel E Miller, Martin K Lotz, Tristan Maerz Aug 2025

Cross-Platform Transcriptomic Data Integration Identifies An Overactive Neuro-Immune Signature In Human Osteoarthritis Synovium, Michael D Newton, Hannah Swahn, Dana E Orange, Joseph B Lesnak, Theodore J Price, Anne-Marie Malfait, Rachel E Miller, Martin K Lotz, Tristan Maerz

Faculty, Staff and Student Publications

Objective: Chronic synovitis is associated with osteoarthritis (OA) pain, but the molecular underpinnings remain unclear. Our objective was to characterize the transcriptional phenotype of OA synovium with a focus on signaling relevant to pain.

Design: Eight publicly-available microarray and RNA-sequencing GEO datasets from human non-OA and OA subjects underwent quality control and re-analysis for differentially-expressed genes (DEGs). Cross-platform statistical integration was performed via a weighted Z-test to combine detection power across datasets. Gene set enrichment, cell type enrichment, and regulon analyses were performed. Human single-cell RNA sequencing data was used to map gene expression to cell types. Ligand-receptor interactions were …


Multi-Center Survey Of Medicine Residents And Self-Assessment On Cardiac Complications In Obstetric Patients, Kevyn Niu, Christie A. Tran, Robert J. Subbiondo Md, Olubenga Oyesanmi Aug 2025

Multi-Center Survey Of Medicine Residents And Self-Assessment On Cardiac Complications In Obstetric Patients, Kevyn Niu, Christie A. Tran, Robert J. Subbiondo Md, Olubenga Oyesanmi

HCA Healthcare Journal of Medicine

Background

Internal medicine (IM) residents receive significant cardiology training, and previous surveys have evaluated IM resident competency on obstetric (OB)-related subjects. However, there is minimal literature on self-reported competence of cardiac-specific complications in OB patients. Our study assessed self-reported comfort and competency regarding cardiovascular complications in OB patients with medical residents across several specialties.

Methods

We surveyed 207 residents across 3 specialties and 3 teaching hospitals on 10 questions regarding their self-reported confidence in managing cardiovascular complications in OB patients, including practice setting, specific cardiac issues, and stages of labor. We received 42 responses. Results were obtained using Google Sheets …


Nondominant Right Coronary Artery Occlusion Leading To An Anterior St-Segment Elevation Myocardial Infarction, Taha Ahmed, Taylor Wood, Austin Harris, Rajan Desai, Garima Handa, Naoki Misumida, Amartya Kundu Aug 2025

Nondominant Right Coronary Artery Occlusion Leading To An Anterior St-Segment Elevation Myocardial Infarction, Taha Ahmed, Taylor Wood, Austin Harris, Rajan Desai, Garima Handa, Naoki Misumida, Amartya Kundu

HCA Healthcare Journal of Medicine

Background

A nondominant right coronary artery supplies a small portion of the myocardium. Albeit rare, an acute occlusion of a nondominant right coronary artery is believed to be inconsequential with minimal clinical relevance.

Case Presentation

We present a case of a middle-aged man who presented with chest pain and an electrocardiogram demonstrating anterior ST-segment elevation. An emergent coronary angiogram revealed acute thrombotic occlusion of the proximal nondominant right coronary artery with no significant obstructive atherosclerotic disease in the dominant left coronary circulation. Balloon angioplasty of the occluded vessel followed by implantation of a drug-eluting stent resulted in the resolution of …


Ovarian Dysgerminoma With Tubo-Ovarian Torsion In An 11-Year-Old Child: A Rare Occurrence But A Significant Differential Diagnosis In Acute Abdomen, Charu Chandra, Keeranmayee Mishra, Rahul Mangal, Chirag Doshi, Apurba Anshuman Mishra Aug 2025

Ovarian Dysgerminoma With Tubo-Ovarian Torsion In An 11-Year-Old Child: A Rare Occurrence But A Significant Differential Diagnosis In Acute Abdomen, Charu Chandra, Keeranmayee Mishra, Rahul Mangal, Chirag Doshi, Apurba Anshuman Mishra

HCA Healthcare Journal of Medicine

Background

Ovarian tumors are quite uncommon in the premenarchal age group, with the majority being functional cysts. Malignant tumors are unusual in this age group, making the diagnosis of ovarian malignancy in children quite challenging. Dysgerminoma is the most common malignant ovarian germ cell tumor in females. The clinical symptoms often include abdominal pain, distension, a palpable mass, reduced appetite, nausea, and vomiting.

Case Presentation

We discuss the case of an 11-year-old premenarchal girl who was brought to the emergency department with abdominal pain persisting for 3-4 days, which had intensified over the 24 hours before she arrived at the …


Brown Umbilical Nodule: A Case Of Primary Cutaneous Endometriosis, Richard G. Bindernagel Jr., Aleia Boccardi, Taylor C. Jindia, Parth Patel, Jaimie Bryan, Addie Walker, Summer Moon, Richard Miller Aug 2025

Brown Umbilical Nodule: A Case Of Primary Cutaneous Endometriosis, Richard G. Bindernagel Jr., Aleia Boccardi, Taylor C. Jindia, Parth Patel, Jaimie Bryan, Addie Walker, Summer Moon, Richard Miller

HCA Healthcare Journal of Medicine

Background

Endometriosis is a common condition in which endometrial glands and stroma are implanted outside the uterine cavity. Rarely, the skin can be involved.

Case Presentation

We describe a case of a 41-year-old woman who presented to the dermatology clinic complaining of a brown umbilical nodule with slight erythema. It was occasionally painful and hemorrhagic. She denied a history of endometriosis and abdominal surgeries. A shave biopsy of the nodule was consistent with a diagnosis of cutaneous endometriosis. The patient was referred to her gynecologist for further evaluation and treatment.

Conclusion

This unique case demonstrates primary cutaneous endometriosis in the …


Sevoflurane In Status Asthmaticus: A Case Report And Literature Review, Amelia L. Gurley, Thomas W. Church, Sana Hadyah, Brandon Abrajan, Julia Cheree Glavinic Aug 2025

Sevoflurane In Status Asthmaticus: A Case Report And Literature Review, Amelia L. Gurley, Thomas W. Church, Sana Hadyah, Brandon Abrajan, Julia Cheree Glavinic

HCA Healthcare Journal of Medicine

Background

Sevoflurane and other inhaled anesthetics are gradually entering provider awareness as rescue therapies for patients in refractory status asthmaticus. This paper documents a case report and a literature review involving the use of sevoflurane to treat status asthmaticus.

Case Presentation

A 27-year-old man presented to the emergency room in acute hypoxic respiratory failure due to status asthmaticus, refractory to multiple therapies and requiring intubation. He was successfully extubated following sevoflurane administration in the operating room, and his care was complicated by transient hypotension. A multidisciplinary effort was critical in ensuring successful and timely therapy.

Methods

We performed a literature …


Educational Point-Of-Care Ultrasound Discovers Adrenal Cortical Carcinoma, A Case Report: Clinical Implications And Review Of The Literature, Minh Q. Nguyen, Moshe Bengio, Vu H. Tran Aug 2025

Educational Point-Of-Care Ultrasound Discovers Adrenal Cortical Carcinoma, A Case Report: Clinical Implications And Review Of The Literature, Minh Q. Nguyen, Moshe Bengio, Vu H. Tran

HCA Healthcare Journal of Medicine

Introduction

Point-of-care ultrasound (POCUS) has become an indispensable tool for emergency physicians in assessing intra-abdominal pathology due to its real-time visualization, portability, and cost-effectiveness. While POCUS is not traditionally focused on adrenal gland assessment, incidental findings of adrenal masses during examinations have been reported. Our patient presented with a chronic obstructive pulmonary disease (COPD) exacerbation and was found to have a large adrenal mass, discovered incidentally, during thoracic ultrasound.

Case Presentation

This case report presents the discovery of an adrenal mass in a patient with respiratory distress due to a COPD exacerbation, emphasizing the importance of sonographers’ ability to identify …


A Complex Case Of A Large Fibroid Uterus Compressing The Inferior Vena Cava Causing Recurrent Deep Vein Thrombosis And Pulmonary Embolisms, Jessica Gil, Jessica Klingensmith, Lauren Hendrix, Patrick J. Stocker, Olugbenga Oyesanmi Aug 2025

A Complex Case Of A Large Fibroid Uterus Compressing The Inferior Vena Cava Causing Recurrent Deep Vein Thrombosis And Pulmonary Embolisms, Jessica Gil, Jessica Klingensmith, Lauren Hendrix, Patrick J. Stocker, Olugbenga Oyesanmi

HCA Healthcare Journal of Medicine

Background

Uterine fibroids have been found to increase the risk for venous thromboembolism. There have been other case reports linking large uterine fibroids, pulmonary embolisms, and deep vein thrombosis (DVT) together due to compression of blood vessels and increased venous stasis. This case report will discuss a case of a large fibroid uterus compressing the inferior vena cava causing a patient with few risk factors to have recurrent DVTs and pulmonary embolisms.

Case Presentation

The patient was a 35-year-old woman who presented with repeated unprovoked thrombosis episodes. The patient had a full workup after the first episode of DVT and …