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Articles 1351 - 1380 of 44978

Full-Text Articles in Medical Sciences

Potential Missed Opportunities To Administer Intravenous Thrombolysis To Patients With Acute Ischemic Stroke, Babak B Navi, Mengxi Wang, Jose-Miguel Yamal, Suja S Rajan, Alexandra L Czap, Stephanie A Parker, May Nour, Ilana Spokoyny, Saad Mir, Mathew E Fink, Joshua Z Willey, William J Jones, James C Grotta Mar 2026

Potential Missed Opportunities To Administer Intravenous Thrombolysis To Patients With Acute Ischemic Stroke, Babak B Navi, Mengxi Wang, Jose-Miguel Yamal, Suja S Rajan, Alexandra L Czap, Stephanie A Parker, May Nour, Ilana Spokoyny, Saad Mir, Mathew E Fink, Joshua Z Willey, William J Jones, James C Grotta

Faculty, Staff and Student Publications

Background: Recent years have seen improvements in stroke-care pathways, including mobile stroke units (MSUs), and this may have affected the rate, predictors, and outcomes of patients with acute ischemic stroke who qualify for but do not receive treatment with intravenous thrombolysis (IVT).

Methods: This was a secondary observational cohort analysis of the prospective, multicenter BEST-MSU trial (Benefits of Stroke Treatment Delivered by a Mobile Stroke Unit Compared With Standard Management by Emergency Medical Services), conducted in 7 US cities from 2014 to 2020, comparing MSU management versus standard emergency department management for patients with suspected acute ischemic stroke. The analytical …


Terraforming The Kras Lipid Landscape, Yong Zhou, John F Hancock Mar 2026

Terraforming The Kras Lipid Landscape, Yong Zhou, John F Hancock

Faculty, Staff and Student Publications

No abstract provided.


Childhood Pulmonary Outcomes After Late Preterm Antenatal Corticosteroids, Cynthia Gyamfi-Bannerman, Rebecca G Clifton, Robert A Wise, Alan T N Tita, Jessica A De Voest, Sharon A Mcgrath-Morrow, Elizabeth C Matsui, Sean C Blackwell, Monica Longo, Sabine Z Bousleiman, Felecia Ortiz, Sankaran Krishnan, Dwight J Rouse, Torri D Metz, George R Saade, Maged M Costantine, Kent D Heyborne, John M Thorp, Kelly S Gibson, Geeta K Swamy, William A Grobman, Yasser Y El-Sayed, George A Macones, Eunice Kennedy Shriver National Institute Of Child Health And Human Development Maternal-Fetal Medicine Units Network And The National Heart, Lung, And Blood Institute Mar 2026

Childhood Pulmonary Outcomes After Late Preterm Antenatal Corticosteroids, Cynthia Gyamfi-Bannerman, Rebecca G Clifton, Robert A Wise, Alan T N Tita, Jessica A De Voest, Sharon A Mcgrath-Morrow, Elizabeth C Matsui, Sean C Blackwell, Monica Longo, Sabine Z Bousleiman, Felecia Ortiz, Sankaran Krishnan, Dwight J Rouse, Torri D Metz, George R Saade, Maged M Costantine, Kent D Heyborne, John M Thorp, Kelly S Gibson, Geeta K Swamy, William A Grobman, Yasser Y El-Sayed, George A Macones, Eunice Kennedy Shriver National Institute Of Child Health And Human Development Maternal-Fetal Medicine Units Network And The National Heart, Lung, And Blood Institute

Faculty, Staff and Student Publications

Objective: To evaluate whether antenatal betamethasone affects childhood respiratory impairment.

Methods: This was a prospective follow-up study of children aged 6 years and older from parents in the ALPS (Antenatal Late Preterm Steroids) trial randomized to betamethasone or placebo from 34 0/7 to 36 6/7 weeks of gestation. Primary outcome composite included the following: 1) abnormal spirometry, forced expiratory volume in 1 second (FEV 1 ) below the lower limit of normal, FEV 1 /forced vital capacity (FVC) below the lower limit of normal, or FVC below the lower limit of normal, defined as below the 5th percentile by the …


Perioperative And Follow-Up Tcar Outcomes Of A Single Institution, Shah-Jahan M Dodwad, Hanaa Dakour-Aridi, Gordon H Martin, Naveed U Saqib, Akiko Tanaka, Arash Keyhani, Kourosh Keyhani, S Keisin Wang Mar 2026

Perioperative And Follow-Up Tcar Outcomes Of A Single Institution, Shah-Jahan M Dodwad, Hanaa Dakour-Aridi, Gordon H Martin, Naveed U Saqib, Akiko Tanaka, Arash Keyhani, Kourosh Keyhani, S Keisin Wang

Faculty, Staff and Student Publications

Background: The ARIES-HM3 trial demonstrated the safety and effectiveness of aspirin elimination from the antithrombotic regimen after HeartMate 3 (HM3) left ventricular assist device (LVAD) implantation. We explored the interaction of atrial fibrillation, diabetes mellitus, and obesity (AF/DM/Ob) with aspirin elimination on hemocompatibility-related adverse events at 1-year postimplant.

Methods: This prospective, double-blind, placebo-controlled trial randomized patients with an HM3 LVAD implant to receive aspirin (100 mg/d) or placebo, in addition to a vitamin K antagonist. The primary endpoint was survival free of nonsurgical (>14 days postimplant) hemocompatibility-related adverse events, including stroke, pump thrombosis, bleeding, and arterial peripheral thromboembolism at …


Asymmetric Sacral Dysmorphism: Prevalence And Impact On Surgical Planning, Adeet Amin, Kathryn Barth, Colin Ward, Ryan Deangelis, Gregory Schimizzi, Connor Park, Milton L Routt, Stephen J Warner, Patrick Kellam, Mark R Adams, Jonathan G Eastman Mar 2026

Asymmetric Sacral Dysmorphism: Prevalence And Impact On Surgical Planning, Adeet Amin, Kathryn Barth, Colin Ward, Ryan Deangelis, Gregory Schimizzi, Connor Park, Milton L Routt, Stephen J Warner, Patrick Kellam, Mark R Adams, Jonathan G Eastman

Faculty, Staff and Student Publications

Objectives: To determine the prevalence and surgical relevance of asymmetry in patients with sacral dysmorphism.

Design: Retrospective review.

Setting: Level 1 academic trauma center.

Patient selection criteria: Included were patients between 16 and 85 years old with an operative pelvic ring injury (Orthopaedic Trauma Association/Arbeitsgemeinschaft für Osteosynthesefragen (OTA/AO) 61A-C) and a thin-cut pelvis computed tomography (≤2.0 mm) with 3D reformats. Sacral dysmorphism was defined by the inability to place a transiliac-transsacral screw in the upper sacral segment.

Outcome measures and comparisons: Asymmetry was assessed by evaluating side-to-side differences in neuroforaminal height, upper sacral segment pathway obliquity, and anterior-posterior pathway width. …


Reconstruction Of A Composite Heel Defect Using Achilles Tendon Allograft And Latissimus Dorsi Free Flap: Case Report And Literature Review, Georgios Karamitros, Carolyn Drogt, Stephen J Warner, Michael P Grant, Gregory A Lamaris Mar 2026

Reconstruction Of A Composite Heel Defect Using Achilles Tendon Allograft And Latissimus Dorsi Free Flap: Case Report And Literature Review, Georgios Karamitros, Carolyn Drogt, Stephen J Warner, Michael P Grant, Gregory A Lamaris

Faculty, Staff and Student Publications

Background: Composite heel defects involving the Achilles tendon and overlying soft tissue are rare and technically demanding. Successful management requires restoration of tendon continuity and durable coverage. We reviewed the literature and presented a representative case to illustrate current strategies.

Methods: A literature review of 28 studies that reported outcomes of Achilles tendon reconstruction with concomitant soft tissue coverage was performed. Tendon restoration techniques(allografts, autografts, vascularized grafts) and flap types (muscle and fasciocutaneous) were analyzed for functional recovery, complication rates, and donor-site morbidity. Additionally, we report the case of a 14-year-old woman with a 7-cm Achilles tendon defect and full-thickness …


Mri Analysis Of The Wrist: Does The Presence Of Palmaris Longus Affect Median Nerve Position?, Victor B Chavez, Dean W Smith Mar 2026

Mri Analysis Of The Wrist: Does The Presence Of Palmaris Longus Affect Median Nerve Position?, Victor B Chavez, Dean W Smith

Faculty, Staff and Student Publications

Background: Understanding the median nerve's position relative to surrounding anatomy is essential; however, there are many variations among individuals. This study assesses differences in median nerve position with or without palmaris longus (PL). We hypothesize that PL presence alters median nerve position, resulting in a greater distance to the skin volar surface, a decreased distance to the radius volar surface, and an increased distance to the flexor carpi radialis (FCR).

Methods: 1193 wrist magnetic resonance imaging (MRI) studies were retrospectively reviewed from 2019 to 2023. One hundred adults ages 18 to 50 meeting criteria were included for a power > 80%: …


Evaluation Of Large Language Models As Decision Support Tools For Head And Neck Cancer Management: A Blinded Multidisciplinary Simulation Study, Sholem Hack, Ron J Karni, Antonino Maniaci, Christopher E Fundakowski, Luca Castellani, Fabiola Incandela, Remo Accorona, Miguel Mayo-Yanez, Martina Violati, Lorenzo Giannini, Niccolo' Mevio, Alberto Maria Saibene Mar 2026

Evaluation Of Large Language Models As Decision Support Tools For Head And Neck Cancer Management: A Blinded Multidisciplinary Simulation Study, Sholem Hack, Ron J Karni, Antonino Maniaci, Christopher E Fundakowski, Luca Castellani, Fabiola Incandela, Remo Accorona, Miguel Mayo-Yanez, Martina Violati, Lorenzo Giannini, Niccolo' Mevio, Alberto Maria Saibene

Faculty, Staff and Student Publications

Background: The management of head and neck cancer relies on multidisciplinary expertise; however, access to tumor boards remains variable. Large language models (LLMs) may support guideline-based decision-making, although performance in complex oncologic scenarios is not well defined.

Methods: Fourteen synthetic cases based on real tumor board encounters were evaluated. Five blinded comparator arms produced recommendations: a human expert, Non-RAG-GPT-4, Non-RAG-GPT-5, RAG-GPT-4, and RAG-GPT-5. Eight head and neck oncologic surgeons scored each recommendation for appropriateness, clarity, specificity, and feasibility using 5-point Likert scales. Paired permutation testing and inter-rater reliability were assessed.

Results: LLM outputs showed close alignment with expert recommendations. RAG-based …


Generalizability Analyses With A Partially Nested Trial Design: The Necrotizing Enterocolitis Surgery Trial, Sarah E Robertson, Matthew A Rysavy, Martin L Blakely, Jon A Steingrimsson, Issa J Dahabreh Mar 2026

Generalizability Analyses With A Partially Nested Trial Design: The Necrotizing Enterocolitis Surgery Trial, Sarah E Robertson, Matthew A Rysavy, Martin L Blakely, Jon A Steingrimsson, Issa J Dahabreh

Faculty, Staff and Student Publications

We discuss generalizability analyses under a partially nested trial design, where part of the trial is nested within a cohort of trial-eligible individuals, while the rest of the trial is not nested. This design arises, for example, when only some centers participating in a trial are able to collect data on non-randomized individuals, or when data on non-randomized individuals cannot be collected for the full duration of the trial. Our work is motivated by the Necrotizing Enterocolitis Surgery Trial (NEST), which compared initial laparotomy versus peritoneal drain for infants with necrotizing enterocolitis or spontaneous intestinal perforation. During the first phase …


Development And Initial Testing Of An Online Security Prime Writing Intervention During Covid-19, Angie S Leroy, Andreas Weyland, Jade Kanemitsu, Arya Tsay-Jones, Vincent D Lai, E Lydia Wu-Chung, Nyla Vela, Amanda Perozo, Valentina I Maza, Sierra Wickline, Katherine Beach, Robert Suchting Mar 2026

Development And Initial Testing Of An Online Security Prime Writing Intervention During Covid-19, Angie S Leroy, Andreas Weyland, Jade Kanemitsu, Arya Tsay-Jones, Vincent D Lai, E Lydia Wu-Chung, Nyla Vela, Amanda Perozo, Valentina I Maza, Sierra Wickline, Katherine Beach, Robert Suchting

Faculty, Staff and Student Publications

Background and objectives: During the COVID-19 pandemic, we tested the efficacy of a one-week online security prime (SP) writing intervention in reducing distress among 254 adults (60+ years and/or having an underlying health condition). The efficacy of writing interventions can depend on several factors. Attachment orientations, characterized by dimensions of anxiety and avoidance, reflect individuals' tendencies in how they seek proximity to and rely on others for support, and influence how people experience and regulate their emotions.

Design and methods: Participants were randomly assigned to one of three conditions: Security Priming (SP), where people wrote about what made them feel …


Influence Of Pullback Pressure Gradient On Residual Angina At One Year, Takuya Mizukami, Kazumasa Ikeda, Daniel Munhoz, Koshiro Sakai, Jeroen Sonck, Hitoshi Matsuo, Toshiro Shinke, Hirohiko Ando, Brian Ko, Simone Biscaglia, Fernando Rivero, Thomas Engstrøm, Antonio Maria Leone, Lokien X Van Nunen, William F Fearon, Evald Høj Christiansen, Stephane Fournier, Liyew Desta, Andy Yong, Julien Adjedj, Javier Escaned, Masafumi Nakayama, Ashkan Eftekhari, Frederik M Zimmermann, Tatyana Storozhenko, Frédéric Bouisset, Domenico Galante, Bruno R Da Costa, Gianluca Campo, Colin Berry, Damien Collison, Tetsuya Amano, Divaka Perera, Allen Jeremias, Ziad A Ali, Ethan Korngold, Eric Wyffels, Adriaan Wilgenhof, Nico Pijls, Bernard De Bruyne, Nils P Johnson, Carlos Collet Mar 2026

Influence Of Pullback Pressure Gradient On Residual Angina At One Year, Takuya Mizukami, Kazumasa Ikeda, Daniel Munhoz, Koshiro Sakai, Jeroen Sonck, Hitoshi Matsuo, Toshiro Shinke, Hirohiko Ando, Brian Ko, Simone Biscaglia, Fernando Rivero, Thomas Engstrøm, Antonio Maria Leone, Lokien X Van Nunen, William F Fearon, Evald Høj Christiansen, Stephane Fournier, Liyew Desta, Andy Yong, Julien Adjedj, Javier Escaned, Masafumi Nakayama, Ashkan Eftekhari, Frederik M Zimmermann, Tatyana Storozhenko, Frédéric Bouisset, Domenico Galante, Bruno R Da Costa, Gianluca Campo, Colin Berry, Damien Collison, Tetsuya Amano, Divaka Perera, Allen Jeremias, Ziad A Ali, Ethan Korngold, Eric Wyffels, Adriaan Wilgenhof, Nico Pijls, Bernard De Bruyne, Nils P Johnson, Carlos Collet

Faculty, Staff and Student Publications

Background: The pullback pressure gradient (PPG) is a novel physiological metric that quantifies coronary artery disease patterns as focal or diffuse on a scale from 0 to 1. This study assessed the relationship between PPG and residual angina at 1 year.

Methods: PPG Global is a prospective, investigator-initiated, single-arm, multicenter study that enrolled patients with at least 1 lesion with a fractional flow reserve ≤0.80 intended to be treated with percutaneous coronary intervention. After the PPG calculation, physicians could revise treatment assignment to medical therapy or coronary artery bypass graft surgery instead of percutaneous coronary intervention. Focal and diffuse disease …


High Accuracy Stool Biomarkers Of Precancerous Colorectal Cancer Identified Using A 2000-Plex Immunoproteomic Screen, Kamala Vanarsa, Jessica Castillo, Hao Li, Kala T Pham, Maria Akter, Sravya Gude, Kyung Hyun Lee, Claudia Pedroza, Robert Bresalier, Nicholas Chia, Chandra Mohan Mar 2026

High Accuracy Stool Biomarkers Of Precancerous Colorectal Cancer Identified Using A 2000-Plex Immunoproteomic Screen, Kamala Vanarsa, Jessica Castillo, Hao Li, Kala T Pham, Maria Akter, Sravya Gude, Kyung Hyun Lee, Claudia Pedroza, Robert Bresalier, Nicholas Chia, Chandra Mohan

Faculty, Staff and Student Publications

Given the morbidity and mortality associated with colorectal cancer (CRC), novel biomarkers are clearly warranted, especially for early detection. An antibody-based screen of 2000 proteins was utilized to identify stool proteins that were elevated in patients with CRC, compared with healthy controls (HCs). Thirty-seven lead candidates were selected for ELISA validation in three independent cohorts comprised of CRC patients, advanced adenoma patients, and HCs, drawn from two different ethnicities. Of the 2000 proteins interrogated, 116 were differentially expressed in CRC stool, with 45 being elevated at twofold or higher; 37 of these proteins were selected for ELISA validation in three …


Establishing Proof-Of-Concept For The Feasibility And Implementation Of A Point-Of-Sale Firearm Safety Counseling Program: A Qualitative Case Study, Amanda Koong, Mike Henson-Garcia, Lauren Malthaner, Katelyn Jetelina, Belinda Hernandez, Sandra Mckay Mar 2026

Establishing Proof-Of-Concept For The Feasibility And Implementation Of A Point-Of-Sale Firearm Safety Counseling Program: A Qualitative Case Study, Amanda Koong, Mike Henson-Garcia, Lauren Malthaner, Katelyn Jetelina, Belinda Hernandez, Sandra Mckay

Faculty, Staff and Student Publications

Safe firearm storage is critical for injury prevention, yet there is limited evidence surrounding effective interventions to promote storage behaviors among owners. One potential avenue for intervention is at the point-of-sale, a concept well-proven in the nutrition promotion and tobacco cessation space. This study explored firearm retailer attitudes toward a firearm storage intervention delivered at the point of sale. Seventeen in-depth interviews were conducted with firearm retailers from a suburban gun shop in Fort Bend, USA. This semi-structured interview assessed firearm retailer perceptions of the proposed point-of-sale intervention. Interviews were transcribed and independently coded to identify themes that emerged from …


Incidence Of Cancers Among Children Living With Hiv In Malawi After Widespread Availability Of Antiretroviral Therapy: A Population-Based Study, Casey L Mcatee, Fatsani Manase, William Kamiyango, Jimmy Villiera, Mark Zobeck, Joseph Mhango, Allison Silverstein, Samuel Maloya, Apatsa Matatiyo, Eluness Simwela, Honour Mhango, Desire Hellings, Brigid O'Brien, Claudia Wallrauch, Tom Heller, Matthew Painschab, Kate Westmoreland, Atupele Mpasa, Rizine Mzikamanda, Nmazuo Ozuah, Joseph Lubega, Nader Kim El-Mallawany, Carl E Allen, Michael E Scheurer Mar 2026

Incidence Of Cancers Among Children Living With Hiv In Malawi After Widespread Availability Of Antiretroviral Therapy: A Population-Based Study, Casey L Mcatee, Fatsani Manase, William Kamiyango, Jimmy Villiera, Mark Zobeck, Joseph Mhango, Allison Silverstein, Samuel Maloya, Apatsa Matatiyo, Eluness Simwela, Honour Mhango, Desire Hellings, Brigid O'Brien, Claudia Wallrauch, Tom Heller, Matthew Painschab, Kate Westmoreland, Atupele Mpasa, Rizine Mzikamanda, Nmazuo Ozuah, Joseph Lubega, Nader Kim El-Mallawany, Carl E Allen, Michael E Scheurer

Faculty, Staff and Students Publications

Purpose: Few data describe the modern epidemiology of pediatric HIV-associated cancers in sub-Saharan Africa, home to over 80% of the world's children living with HIV. This study evaluated the incidence of cancers among these children over 15 years after widespread antiretroviral therapy (ART) adoption in Malawi.

Methods: We conducted a retrospective population-based cohort study leveraging multiple independent data sources comprehensive of all cancer diagnoses among children living with HIV in Northern and Central Malawi between 2010 and 2024. HIV-associated cancers were defined as those cancers with well-established epidemiologic associations with HIV. Cumulative incidence and average annual percent change were estimated …


Histone Demethylase Jmjd1a Protects Mice From Enteric Bacterial Infection By Upregulating Ccl8 Expression To Recruit Macrophages And Cd4+ T Cells, Guifang Lin, Lichun Yang, Shuyan Jiang, Yong Zhang, Ping Luo, Weihua Li, Jianming Xu, Gongpeng Xiong, Chundong Yu, Wenbo Chen Mar 2026

Histone Demethylase Jmjd1a Protects Mice From Enteric Bacterial Infection By Upregulating Ccl8 Expression To Recruit Macrophages And Cd4+ T Cells, Guifang Lin, Lichun Yang, Shuyan Jiang, Yong Zhang, Ping Luo, Weihua Li, Jianming Xu, Gongpeng Xiong, Chundong Yu, Wenbo Chen

Faculty, Staff and Students Publications

Jumonji domain-containing 1A (JMJD1A, also known as KDM3A) is a histone demethylase that specifically demethylates H3K9me1/2 to enhance gene expression. The roles of JMJD1A in many physiological and pathological processes have been revealed. However, it is unclear whether JMJD1A is involved in host defense against enteric pathogen infection. In this study, we found that enteric infection with C. rodentium induced JMJD1A expression in colonic epithelial cells at the transcriptional level partly mediated by IRF1. After C. rodentium infection, JMJD1A-/- mice exhibited increased mortality, colonic injury, and C. rodentium load and systemic spread, suggesting that JMJD1A protects host against C. rodentium …


Online Tutorial On Survival Analysis For Biomarker Discovery, Jaka Kokošar, Ela Praznik, Martin Špendl, Nancy P Moreno, Alana Newell, Gad Shaulsky, Blaž Zupan Mar 2026

Online Tutorial On Survival Analysis For Biomarker Discovery, Jaka Kokošar, Ela Praznik, Martin Špendl, Nancy P Moreno, Alana Newell, Gad Shaulsky, Blaž Zupan

Faculty, Staff and Students Publications

In biomedicine, survival analysis addresses time-to-event data to study outcomes like patient survival and treatment response, and supports biomarker discovery. Yet, teaching this analysis is often hindered by mathematical and programming barriers. We present a structured, hands-on tutorial that goes beyond a typical online guide-offering integrated video lectures, literature, quizzes, and practical exercises. Built around Orange Data Mining, an open and free no-code visual analytics platform, the tutorial covers key concepts such as censoring, Kaplan-Meier curves, group comparisons, and biomarker discovery through real-world datasets. Organized in four pedagogical units, it progresses from basic survival data analysis to gene and gene-set …


Lonp1 Variants Are Associated With Clinically Diverse Phenotypes, Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler, Daryl A Scott, Tiana M Scott, Seema R Lalani, Mahshid S Azamian, Jill A Rosenfeld, Bret Bostwick, Lindsay C Burrage, Lance H Rodan, Bianca E Russell, Marina Dutra-Clarke, Michael Kruer, Somayeh Bakhtiarim, Hossein Darvish, David J Amor, Shamima Rahman, Karen Stals, Lisa Bradley, Susan Byrne, Leandra K Tolusso, Beatrix Wong, Laura Benedict, Kimberly Wallis, Kestutis Micke, Cindy Colson, Thomas Smol, Sabrina V Southwick, Kristen A Miller, Michelle L Kush, Odelia Chorin, Annick Rothschild, Wei Wang, Yufeng Shen, Wendy K Chung Mar 2026

Lonp1 Variants Are Associated With Clinically Diverse Phenotypes, Randee E Young, Lu Qiao, Rebecca Hernan, David A Sweetser, Jessica L Waxler, Daryl A Scott, Tiana M Scott, Seema R Lalani, Mahshid S Azamian, Jill A Rosenfeld, Bret Bostwick, Lindsay C Burrage, Lance H Rodan, Bianca E Russell, Marina Dutra-Clarke, Michael Kruer, Somayeh Bakhtiarim, Hossein Darvish, David J Amor, Shamima Rahman, Karen Stals, Lisa Bradley, Susan Byrne, Leandra K Tolusso, Beatrix Wong, Laura Benedict, Kimberly Wallis, Kestutis Micke, Cindy Colson, Thomas Smol, Sabrina V Southwick, Kristen A Miller, Michelle L Kush, Odelia Chorin, Annick Rothschild, Wei Wang, Yufeng Shen, Wendy K Chung

Faculty, Staff and Students Publications

LONP1 encodes a mitochondrial protease essential for protein quality control and metabolism. Variants in LONP1 are associated with a diverse and expanding spectrum of disorders, including Cerebral, Ocular, Dental, Auricular, and Skeletal anomalies syndrome (CODAS), congenital diaphragmatic hernia (CDH), and neurodevelopmental disorders (NDD), with some individuals exhibiting features of mitochondrial encephalopathy. We report 16 novel LONP1 variants identified in 16 individuals (11 with NDD, 5 with CDH), further expanding the clinical spectrum. Structural mapping of disease-associated missense variants revealed phenotype-specific clustering, with CODAS variants enriched in the proteolytic chamber and NDD variants more broadly distributed. CODAS is caused by biallelic …


Comparison Of Variant Callers Using 60 532 Multi-Ancestry Whole Genome Sequences, Hufeng Zhou, Zilin Li, Derek Shyr, Xihao Li, Haoyu Yang, Rounak Dey, Yushi Tang, Robert Maier, Eric Boerwinkle, Steve Buyske, Mark Daly, Adam Felsenfeld, Richard A Gibbs, Namrata Gupta, Ira M Hall, Tara Matise, Ginger A Metcalf, Albert Smith, Catherine Reeves, Heidi J Sofia, Nathan O Stitziel, Michael C Zody, Nhgri Genome Sequencing Program (Gsp) Consortium, Benjamin Neale, Xihong Lin Mar 2026

Comparison Of Variant Callers Using 60 532 Multi-Ancestry Whole Genome Sequences, Hufeng Zhou, Zilin Li, Derek Shyr, Xihao Li, Haoyu Yang, Rounak Dey, Yushi Tang, Robert Maier, Eric Boerwinkle, Steve Buyske, Mark Daly, Adam Felsenfeld, Richard A Gibbs, Namrata Gupta, Ira M Hall, Tara Matise, Ginger A Metcalf, Albert Smith, Catherine Reeves, Heidi J Sofia, Nathan O Stitziel, Michael C Zody, Nhgri Genome Sequencing Program (Gsp) Consortium, Benjamin Neale, Xihong Lin

Faculty, Staff and Students Publications

Whole genome sequencing (WGS) studies play a pivotal role in studying the genetic underpinnings of human diseases and traits. High quality and reproducible variant calling is the cornerstone for the success of downstream analyses, including WGS association studies and polygenic risk prediction. This paper compares the data quality, performance, and concordance of two widely used WGS variant callers, the Genome Analysis Toolkit (GATK) and Variant Tool set that discovers short variants (VT), using 60 532 multi-ancestry whole genomes sequenced by the Centers for Common Disease Genomics (CCDGs) of the NHGRI Genome Sequencing Program. Our findings show that both QCed GATK …


Examining Sleep-Related Problems In Youth With Misophonia, Kevin M Wagner, Matti Cervin, Catherine E Rast, Mered Parnes, Nicholas Murphy, Samuel Spencer, Eric A Storch, Andrew G Guzick Mar 2026

Examining Sleep-Related Problems In Youth With Misophonia, Kevin M Wagner, Matti Cervin, Catherine E Rast, Mered Parnes, Nicholas Murphy, Samuel Spencer, Eric A Storch, Andrew G Guzick

Faculty, Staff and Students Publications

The relationship between misophonia and sleep-related problems (SRPs) in youth is underexplored. This paucity of research is concerning because SRPs might be elevated among youth with misophonia. If left untreated, SRPs can contribute to long-term health consequences. Thus, in this study we examined the link between misophonia and SRPs in youth aged 8 to 17. In this study, we compared SRPs in 102 children and adolescents with clinically significant misophonia to SRPs in a normative youth sample and a sample of 94 youth with anxiety disorders. We also examined the extent to which SRPs were associated with misophonia severity. Approximately …


Statistical Methods In Aging Research: Improving Current Practices And Embracing Emerging Approaches, Deependra K Thapa, Erik S Parker, Mounika Kandukuri, Xi Rita Wang, Thirupathi R Mokalla, Olivia C Robertson, Wasiuddin Najam, Andrew E Teschendorff, Andrew W Brown, John R Speakman, Yisheng Peng, Bernard S Gorman, Heping Zhang, Luis-Enrique Becerra-Garcia, Colby J Vorland, David B Allison Mar 2026

Statistical Methods In Aging Research: Improving Current Practices And Embracing Emerging Approaches, Deependra K Thapa, Erik S Parker, Mounika Kandukuri, Xi Rita Wang, Thirupathi R Mokalla, Olivia C Robertson, Wasiuddin Najam, Andrew E Teschendorff, Andrew W Brown, John R Speakman, Yisheng Peng, Bernard S Gorman, Heping Zhang, Luis-Enrique Becerra-Garcia, Colby J Vorland, David B Allison

Faculty, Staff and Students Publications

Aging research relies on varied statistical methods, and applying these methods appropriately is important for scientific rigor. However, proper use of these statistical techniques is a challenge. We discuss two categories of statistical methods in aging research: (a) emerging methods requiring further validation, including techniques to examine compression of morbidity, maximum lifespan, immortal time bias, molecular aging clocks, and treatment response heterogeneity, and (b) classic and existing methods needing reconsideration and improvement, such as stepwise regression, generalized linear models, methods for accounting for clustering and nesting effects, methods for testing for group differences, methods for mediation …


Risk Factors For Acute Rejection In Pediatric Lung Transplantation And Its Impact On Graft Failure, Sophie Li, Spoorthi Kamepalli, David Moreno Mcneill, Selena Li, Abbas Rana Mar 2026

Risk Factors For Acute Rejection In Pediatric Lung Transplantation And Its Impact On Graft Failure, Sophie Li, Spoorthi Kamepalli, David Moreno Mcneill, Selena Li, Abbas Rana

Faculty, Staff and Students Publications

Background: Although acute rejection is a common complication of lung transplantation, few studies have analyzed risk factors for acute rejection in pediatric lung transplant patients. The purpose of this study was to examine risk and protective factors for acute rejection in pediatric lung transplantation and its impact on graft failure.

Methods: A retrospective analysis was performed on lung transplant data for a cohort of 906 pediatric patients from the Organ Procurement and Transplantation Network (OPTN) Database between October 1, 1987, and June 30, 2023. Multivariable logistic regression was conducted to identify risk and protective factors for acute rejection, adjusting for …


Rural-Urban Differences In Use Of Mental Health Care For Serious Mental Illness At The Veterans Health Administration: A Retrospective Cohort Analysis, Alexandra B Caloudas, Amber B Amspoker, Ashley Smith, Liang Chen, Amy K Cuellar, Giselle Day, Alexandra Zingg, Julianna Hogan, Jan A Lindsay Mar 2026

Rural-Urban Differences In Use Of Mental Health Care For Serious Mental Illness At The Veterans Health Administration: A Retrospective Cohort Analysis, Alexandra B Caloudas, Amber B Amspoker, Ashley Smith, Liang Chen, Amy K Cuellar, Giselle Day, Alexandra Zingg, Julianna Hogan, Jan A Lindsay

Faculty, Staff and Students Publications

PURPOSE: Rural Veterans with serious mental illness (SMI) encounter significant barriers to accessing mental health care, related to SMI symptoms and rurality. A 2023 Government Accountability Office report found that rural Veterans used Veterans Health Administration (VHA) intensive mental health care for SMI less than urban Veterans relative to their population distributions. Our purpose was to deepen understanding of rural-urban differences in use of VHA mental health care among Veterans with SMI.

METHODS: Using VHA databases, we conducted a retrospective cohort analysis of 387,477 Veterans diagnosed with SMI, examining rurality as a predictor of intensive care for SMI and other …


Simulation-Free Spine Palliative Radiotherapy Enabled By Ai-Adapted Diagnostic Ct, Yiding Han, Alexander Nicola Hanania, Zaid Ali Siddiqui, Vincent Ugarte, Boran Zhou, Abdallah S R Mohamed, Piyush Pathak, Daniel Allen Hamstra, Baozhou Sun Mar 2026

Simulation-Free Spine Palliative Radiotherapy Enabled By Ai-Adapted Diagnostic Ct, Yiding Han, Alexander Nicola Hanania, Zaid Ali Siddiqui, Vincent Ugarte, Boran Zhou, Abdallah S R Mohamed, Piyush Pathak, Daniel Allen Hamstra, Baozhou Sun

Faculty, Staff and Students Publications

Background: Radiotherapy planning traditionally requires a dedicated simulation CT (sCT), which can introduce delays in initiating treatment. This is particularly impactful in spinal palliative care, where timely treatment is often important for symptom control and prevention of neurological deterioration. Although diagnostic CT (dCT) is frequently available earlier in the workflow, it can lead to geometric and dosimetric inaccuracies when used directly for treatment planning due to discrepancies in patient positioning, vertebral alignment, and table curvature.

Purpose: To develop and evaluate an AI-based method that transforms dCT into a simulation-equivalent planning CT (AI-pCT), enabling a clinically feasible simulation-free workflow for spinal …


Lower Gyrification Of The Ventromedial Prefrontal Cortex In Posttraumatic Stress Disorder: An Enigma-Ptsd Study., Ahmed Hussain, C Lexi Baird, Ashley A Huggins, Courtney C Russell, Delin Sun, Leonel Rangel-Jimenez, Chadi G Abdallah, Michael Angstadt, Geoffrey May, Hannah Berg, Jennifer U Blackford, Josh Cisler, Judith K Daniels, Nicholas D Davenport, Richard J Davidson, Maria Densmore, Seth G Disner, Wissam El-Hage, Amit Etkin, Negar Fani, Jessie L Frijling, Evan M Gordon, Daniel W Grupe, Ryan A Herringa, Julia I Herzog, David Hofmann, Anna R Hudson, Tanja Jovanovic, Anthony King, Saskia B J Koch, Ruth A Lanius, Amit Lazarov, Gen Li, Israel Liberzon, Shmuel Lissek, Guangming Lu, Antje Manthey, Adi Maron-Katz, Katie A Mclaughlin, Sven C Mueller, Laura Nawijn, Steven M Nelson, Yuval Neria, Richard W J Neufeld, Jack B Nitschke, Bunmi O Olatunji, Miranda Olff, Matthew Peverill, Rongfeng Qi, Yann Quidé, Orren Ravid, Ivan Rektor, Kerry J Ressler, Pavel Říha, Marisa Ross, Kelly Sambrook, Christian Schmahl, Anika Sierk, Scott R Sponheim, Jennifer S Stevens, Thomas Straube, Benjamin Suarez-Jimenez, Jean Théberge, Nic J A Van Der Wee, Steven J A Van Der Werff, Sanne J H Van Rooij, Mirjam Van Zuiden, Dick J Veltman, Robert R J M Vermeiren, Henrik Walter, Li Wang, Xi Zhu, Ye Zhu, Sigal Zilcha-Mano, Neda Jahanshad, Paul M Thompson, Rajendra A Morey Mar 2026

Lower Gyrification Of The Ventromedial Prefrontal Cortex In Posttraumatic Stress Disorder: An Enigma-Ptsd Study., Ahmed Hussain, C Lexi Baird, Ashley A Huggins, Courtney C Russell, Delin Sun, Leonel Rangel-Jimenez, Chadi G Abdallah, Michael Angstadt, Geoffrey May, Hannah Berg, Jennifer U Blackford, Josh Cisler, Judith K Daniels, Nicholas D Davenport, Richard J Davidson, Maria Densmore, Seth G Disner, Wissam El-Hage, Amit Etkin, Negar Fani, Jessie L Frijling, Evan M Gordon, Daniel W Grupe, Ryan A Herringa, Julia I Herzog, David Hofmann, Anna R Hudson, Tanja Jovanovic, Anthony King, Saskia B J Koch, Ruth A Lanius, Amit Lazarov, Gen Li, Israel Liberzon, Shmuel Lissek, Guangming Lu, Antje Manthey, Adi Maron-Katz, Katie A Mclaughlin, Sven C Mueller, Laura Nawijn, Steven M Nelson, Yuval Neria, Richard W J Neufeld, Jack B Nitschke, Bunmi O Olatunji, Miranda Olff, Matthew Peverill, Rongfeng Qi, Yann Quidé, Orren Ravid, Ivan Rektor, Kerry J Ressler, Pavel Říha, Marisa Ross, Kelly Sambrook, Christian Schmahl, Anika Sierk, Scott R Sponheim, Jennifer S Stevens, Thomas Straube, Benjamin Suarez-Jimenez, Jean Théberge, Nic J A Van Der Wee, Steven J A Van Der Werff, Sanne J H Van Rooij, Mirjam Van Zuiden, Dick J Veltman, Robert R J M Vermeiren, Henrik Walter, Li Wang, Xi Zhu, Ye Zhu, Sigal Zilcha-Mano, Neda Jahanshad, Paul M Thompson, Rajendra A Morey

Faculty, Staff and Students Publications

Background: Cortical gyrification involves the formation of folds in the cerebral cortex, coinciding with key neurodevelopmental processes. Its strong correlation with increased cortical surface area and decreased cortical thickness may improve cortical signaling efficiency by decreasing cortico-cortical distance. Differences in brain structure have been found in posttraumatic stress disorder (PTSD), yet few small studies have examined cortical gyrification.

Methods: Gyrification was quantified using FreeSurfer's Local Gyrification Index (lGI), derived from 3-dimensional T1-weighted volumetric brain magnetic resonance imaging in 1876 participants (PTSD n = 789, control n = 1087) across 24 sites from the ENIGMA-PGC (Enhancing Neuro Imaging Genetics through Meta-Analysis …


How Does Frailty Impact Peri-Operative And Speech Recognition Outcomes For Cochlear Implants In Veterans?, Kaitlyn A Brooks, Benjamin D Lovin, Alex D Sweeney, Angela S Peng, Nathan R Lindquist Mar 2026

How Does Frailty Impact Peri-Operative And Speech Recognition Outcomes For Cochlear Implants In Veterans?, Kaitlyn A Brooks, Benjamin D Lovin, Alex D Sweeney, Angela S Peng, Nathan R Lindquist

Faculty, Staff and Students Publications

Objective: To investigate the association of frailty with post-cochlear implant (CI) admission, morbidity, and CI-aided word recognition outcomes in veterans.

Study design: Retrospective cohort.

Setting: Single-institution tertiary care Veterans Health Administration (VHA) hospital.

Methods: Veterans who underwent cochlear implantation between 1998 to 2024 were included. The Modified 5-Item Frailty Index (mFI-5) score was used to characterize preoperative frailty. Outcomes of interest were admission from post-anesthesia care unit (PACU), relative risk (RR) of admission among frail patients, and relationship between frailty and post-CI word recognition score (WRS). Ordinal data were analyzed via logistic regression and Chi square tests; a multivariate linear …


Lean On Me: Social Factors And Diabetes Outcomes Among Young Adults With Type 1 Diabetes Prior To Transitioning To Adult Care, Caroline M Roberts, Samantha A Carreon, Charles G Minard, Sarah K Lyons, Randi Streisand, Barbara J Anderson, Tricia S Tang, Siripoom Mckay, Katherine Gallagher, Sridevi Devaraj, Marisa E Hilliard Mar 2026

Lean On Me: Social Factors And Diabetes Outcomes Among Young Adults With Type 1 Diabetes Prior To Transitioning To Adult Care, Caroline M Roberts, Samantha A Carreon, Charles G Minard, Sarah K Lyons, Randi Streisand, Barbara J Anderson, Tricia S Tang, Siripoom Mckay, Katherine Gallagher, Sridevi Devaraj, Marisa E Hilliard

Faculty, Staff and Students Publications

Aims: Little is known about how different aspects of social relationships relate to diabetes self-management and glycaemic outcomes in young adults with type 1 diabetes (T1D). We examined relationships of general and diabetes-specific social variables with diabetes self-management and HbA1c. We hypothesized diabetes-specific factors would more strongly associate with self-management and HbA1c than general social factors.

Methods: We analysed baseline data from 100 young adults with T1D (Mage = 19.9 ± 1.3 years) enrolled in a randomized controlled trial of a paediatric to adult care transition intervention. We examined associations of self-reported general and diabetes-specific social factors with self-reported self-management …


Concurrent Vulvar Vitiligo And Lichen Sclerosus: The Importance Of Melanocyte-Specific Immunostains In Resolving Diagnostic Ambiguity, Nabor S Mireles, Kaitlyn Levett, Annie Dai, Abdul Hafeez Diwan, Omid Jalali Mar 2026

Concurrent Vulvar Vitiligo And Lichen Sclerosus: The Importance Of Melanocyte-Specific Immunostains In Resolving Diagnostic Ambiguity, Nabor S Mireles, Kaitlyn Levett, Annie Dai, Abdul Hafeez Diwan, Omid Jalali

Faculty, Staff and Students Publications

Vitiligo and lichen sclerosus (LS) are autoimmune dermatoses that may share overlapping clinical and histopathologic features, posing diagnostic challenges when they occur concurrently. We report a biopsy-confirmed case of vulvar vitiligo and LS in a 61-year-old woman presenting with pruritic, depigmented patches on the labia majora and minora. Histopathologic examination showed epidermal thinning with papillary dermal hyalinization and a dense, band-like lymphocytic infiltrate consistent with LS. Melan-A immunostaining demonstrated a complete absence of epidermal melanocytes, confirming concurrent vitiligo rather than LS-related post-inflammatory hypopigmentation. This case underscores the importance of correlating subtle clinical clues with melanocyte-specific immunostains to distinguish coexistent vitiligo …


Cardiac Catheterization In American Indian/Alaska Native Populations: Empowering Communities, Providers, And Systems Toward Equity, Joseph Burns, Daniel J Penny, Keila N Lopez, Lindsay F Eilers, Athar M Qureshi, Christine J Chung, Jason F Deen Mar 2026

Cardiac Catheterization In American Indian/Alaska Native Populations: Empowering Communities, Providers, And Systems Toward Equity, Joseph Burns, Daniel J Penny, Keila N Lopez, Lindsay F Eilers, Athar M Qureshi, Christine J Chung, Jason F Deen

Faculty, Staff and Students Publications

American Indian/Alaska Native (AI/AN) people face numerous health disparities, including alarming rates of cardiovascular morbidity and mortality. These inequities are closely tied to unique social, political, and economic circumstances due to the ongoing consequences of systemic racism. Although poorly described, these cardiovascular inequities extend to adult and pediatric interventional cardiology. AI/AN adults are less likely to undergo cardiac catheterization and are more likely to experience complications. There are no published studies on pediatric interventional cardiology outcomes in AI/AN children. The scarcity of available data underscores the need for novel studies to investigate the epidemiology, sociodemographic associations, and outcomes of AI/AN …


Hes V2.0 Validation And Performance Compared To Galad And Asap In The Heds Cohort, Hashem B El-Serag, Camden Lopez, Michelle Luster, K Rajender Reddy, Neehar Parikh, Amit G Singal, Jorge A Marrero, Aaron P Thrift, Jagpreet Chhatwal, Ziding Feng, Stephanie Page-Lester, Qingchun Jin, Nabihah Tayob, Fasiha Kanwal Mar 2026

Hes V2.0 Validation And Performance Compared To Galad And Asap In The Heds Cohort, Hashem B El-Serag, Camden Lopez, Michelle Luster, K Rajender Reddy, Neehar Parikh, Amit G Singal, Jorge A Marrero, Aaron P Thrift, Jagpreet Chhatwal, Ziding Feng, Stephanie Page-Lester, Qingchun Jin, Nabihah Tayob, Fasiha Kanwal

Faculty, Staff and Students Publications

Background & aims: We previously developed HES V2.0, a biomarker panel (age, ALT, platelets, etiology, AFP, AFP-L3, DCP, and their 1-year gradients) for early detection of hepatocellular carcinoma (HCC) among patients with cirrhosis. We externally validated HES V2.0 and compared its performance with HES V1.0, GALAD, and ASAP.

Methods: We conducted a PRoBE (prospective specimen-collection, retrospective blinded-evaluation) cohort study in the HEDS (Hepatocellular Carcinoma Early Detection Strategy) cohort of 1,485 patients with cirrhosis, of whom 119 developed HCC. Patient- and test-level true positive rates (TPR) for HCC were calculated at 6, 12, and 24 months before diagnosis, using thresholds at …


Health Care Worker-Reported Barriers And Potential Facilitators Of Acute Lower Respiratory Infection Care Deliver For Children At Mchinji District Hospital In Malawi, Shubhada Hooli, Beatwil Zadutsa, Everlisto Phiri, Karina Hofstee, Nichole Davis, Eric D Mccollum, Charles Makwenda, Carina King Mar 2026

Health Care Worker-Reported Barriers And Potential Facilitators Of Acute Lower Respiratory Infection Care Deliver For Children At Mchinji District Hospital In Malawi, Shubhada Hooli, Beatwil Zadutsa, Everlisto Phiri, Karina Hofstee, Nichole Davis, Eric D Mccollum, Charles Makwenda, Carina King

Faculty, Staff and Students Publications

Objectives: We sought to understand barriers to high-quality hospital-based child acute lower respiratory infection (ALRI) care at Mchinji District Hospital in Malawi.

Methods: In 2020, we conducted focus group discussions (FGDs) with clinical officers (COs) who provided direct clinical care after a half-day refresher course on pediatric ALRI case management. The underpinning research methodology of the FGDs was phenomenology, and they were analyzed using inductive and deductive thematic analysis.

Results: We recruited 16 COs to participate in three FGDs. Five themes emerged: lack of confidence in ALRI diagnosis and management, high clinical burden with understaffing, dysfunctional team dynamics, limited physical …