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Articles 7741 - 7770 of 79082

Full-Text Articles in Medical Specialties

Nrg Oncology Liver Proton Sbrt And Hypofractionated Radiation Therapy: Current Treatment Technical Assessment And Practice Patterns, Minglei Kang, Paige A Taylor, Jiajian Shen, Jun Zhou, Jatinder Saini, Kristin Higgins, Ying Xiao, Charles B Simone, Liyong Lin Jul 2025

Nrg Oncology Liver Proton Sbrt And Hypofractionated Radiation Therapy: Current Treatment Technical Assessment And Practice Patterns, Minglei Kang, Paige A Taylor, Jiajian Shen, Jun Zhou, Jatinder Saini, Kristin Higgins, Ying Xiao, Charles B Simone, Liyong Lin

Faculty, Staff and Student Publications

No abstract provided.


Efficacy Of A Novel Bcl-Xl Degrader, Dt2216, In Preclinical Models Of Jak2-Mutated Post-Mpn Aml, Zhe Wang, Anna Skwarska, Gowri Poigaialwar, Sovira Chaudhry, Alba Rodriguez-Meira, Emmanuel Olivier, Varun Gupta, Warren Fiskus, Cassandra L Ramage, Guangrong Zheng, Alexandra Schurer, Kira Gritsman, Eirini P Papapetrou, Kapil Bhalla, Daohong Zhou, Adam J Mead, Raajit K Rampal, Jeffrey W Tyner, Hussein A Abbas, Naveen Pemmaraju, Qi Zhang Tatarata, Marina Konopleva Jul 2025

Efficacy Of A Novel Bcl-Xl Degrader, Dt2216, In Preclinical Models Of Jak2-Mutated Post-Mpn Aml, Zhe Wang, Anna Skwarska, Gowri Poigaialwar, Sovira Chaudhry, Alba Rodriguez-Meira, Emmanuel Olivier, Varun Gupta, Warren Fiskus, Cassandra L Ramage, Guangrong Zheng, Alexandra Schurer, Kira Gritsman, Eirini P Papapetrou, Kapil Bhalla, Daohong Zhou, Adam J Mead, Raajit K Rampal, Jeffrey W Tyner, Hussein A Abbas, Naveen Pemmaraju, Qi Zhang Tatarata, Marina Konopleva

Faculty, Staff and Student Publications

Acute myeloid leukemia (AML) that evolves from myeloproliferative neoplasm (MPN) is known as post-MPN AML. Current treatments do not significantly extend survival beyond 12 months. B-cell lymphoma-extra large (BCL-xL) has been found to be overexpressed in leucocytes from patients with MPN, making it a potential therapeutic target. We investigated the role of BCL-xL in post-MPN AML and tested the efficacy of DT2216, a platelet-sparing BCL-xL proteolysis-targeting chimera, in preclinical models of post-MPN AML. We found that BCL2L1, the gene encoding BCL-xL, is expressed at higher levels in patients with post-MPN AML than in those with de novo AML. Single-cell multiomics …


Integrative Spatial Omics Reveals Distinct Tumor-Promoting Multicellular Niches And Immunosuppressive Mechanisms In Black American And White American Patients With Tnbc, Qian Zhu, Akhila Balasubramanian, Jaya Ruth Asirvatham, Megha Chatterjee, Badrajee Piyarathna, Jaspreet Kaur, Nada Mohamed, Ling Wu, Stacy Wang, Niloufar Pourfarrokh, Paula Danika Binsol, Mahak Bhargava, Uttam Rasaily, Yitian Xu, Junjun Zheng, Deborah Jebakumar, Arundhati Rao, Carolina Gutierrez, Angela R Omilian, Carl Morrison, Gokul M Das, Christine Ambrosone, Erin H Seeley, Shu-Hsia Chen, Yi Li, Eric Chang, Xiaoxian Li, Elizabeth Baker, Ritu Aneja, Xiang H-F Zhang, Arun Sreekumar Jul 2025

Integrative Spatial Omics Reveals Distinct Tumor-Promoting Multicellular Niches And Immunosuppressive Mechanisms In Black American And White American Patients With Tnbc, Qian Zhu, Akhila Balasubramanian, Jaya Ruth Asirvatham, Megha Chatterjee, Badrajee Piyarathna, Jaspreet Kaur, Nada Mohamed, Ling Wu, Stacy Wang, Niloufar Pourfarrokh, Paula Danika Binsol, Mahak Bhargava, Uttam Rasaily, Yitian Xu, Junjun Zheng, Deborah Jebakumar, Arundhati Rao, Carolina Gutierrez, Angela R Omilian, Carl Morrison, Gokul M Das, Christine Ambrosone, Erin H Seeley, Shu-Hsia Chen, Yi Li, Eric Chang, Xiaoxian Li, Elizabeth Baker, Ritu Aneja, Xiang H-F Zhang, Arun Sreekumar

Center on Aging Staff Publications

Racial disparities in the clinical outcomes of triple-negative breast cancer (TNBC) have been well-documented, but the underlying biological mechanisms remain poorly understood. To investigate these disparities, we employed a multi-omic approach integrating imaging mass cytometry and spatial transcriptomics to characterize the tumor microenvironment (TME) in self-identified Black American (BA) and White American (WA) TNBC patients. Our analysis revealed that the TME in BA patients is marked by a network of endothelial cells, macrophages, and mesenchymal-like cells, which correlates with reduced patient survival. In contrast, the WA TNBC microenvironment is enriched in T-cells and neutrophils, indicative of T-cell exhaustion and suppressed …


Prognostic Gene Expression And Microrna Profiling Signatures And Genetic Alterations In Primary Testicular Diffuse Large B-Cell Lymphoma, Alexandar Tzankov, Heounjeong Go, Ling Li, Maurilio Ponzoni, Yafei Wang, Qiongli Zhai, Anamarija M Perry, Shi Wang, Xiaoxiao Wang, April Chiu, Mina L Xu, Carlo Visco, Karen Dybkaer, Henry Withers, Mark Long, Alyssa F Yuan, Yi Miao, Everardo Macias, Dehong Wu, Wen Shuai, Bangchen Wang, Jianyong Li, Govind Bhagat, Youli Zu, Zenggang Pan, William Choi, Santiago Montes-Moreno, Weina Chen, J Han Van Krieken, Michael B Møller, Xinfang Yu, Benjamin M Parsons, Shanxiang Zhang, Eric D Hsi, Aliyah R Sohani, Jeremy S Abramson, Andrés J M Ferreri, Bing Xu, Yong Li, Ken H Young Jul 2025

Prognostic Gene Expression And Microrna Profiling Signatures And Genetic Alterations In Primary Testicular Diffuse Large B-Cell Lymphoma, Alexandar Tzankov, Heounjeong Go, Ling Li, Maurilio Ponzoni, Yafei Wang, Qiongli Zhai, Anamarija M Perry, Shi Wang, Xiaoxiao Wang, April Chiu, Mina L Xu, Carlo Visco, Karen Dybkaer, Henry Withers, Mark Long, Alyssa F Yuan, Yi Miao, Everardo Macias, Dehong Wu, Wen Shuai, Bangchen Wang, Jianyong Li, Govind Bhagat, Youli Zu, Zenggang Pan, William Choi, Santiago Montes-Moreno, Weina Chen, J Han Van Krieken, Michael B Møller, Xinfang Yu, Benjamin M Parsons, Shanxiang Zhang, Eric D Hsi, Aliyah R Sohani, Jeremy S Abramson, Andrés J M Ferreri, Bing Xu, Yong Li, Ken H Young

Faculty, Staff and Students Publications

Primary testicular (PT) diffuse large B-cell lymphoma (DLBCL) is a rare and aggressive lymphoma with distinct clinical and molecular characteristics. To identify prognostic biomarkers in PT-DLBCL, in this study we analyzed DNA and RNA samples of PT-DLBCL tumors from 206 patients using next-generation sequencing platforms and assays. Genetic alteration analysis found that multiple chromosomal copy number variations (CNVs), TP53 transcript mutations with high variant allele frequency, and MCD subtype had significantly adverse prognostic effects, whereas elevated microsatellite instability had a significantly favorable prognostic effect in PT-DLBCL. Targeted RNA-seq analysis identified a PTL gene expression signature by comparing PT-DLBCL with systemic …


Bridging The Mind And Body: Functional Neurologic Symptom Disorder Following Sexual Trauma In An Adolescent Girl, Ariel E. Sosa Gomez, Daniel Gutierrez Jul 2025

Bridging The Mind And Body: Functional Neurologic Symptom Disorder Following Sexual Trauma In An Adolescent Girl, Ariel E. Sosa Gomez, Daniel Gutierrez

School of Medicine Publications

Functional neurologic symptom disorder (FNSD) is a multifaceted condition that can present with neurologic symptoms inconsistent with recognized neurological disease, often in the context of psychosocial stressors, though these are not required for diagnosis. We report the case of a 12-year-old Hispanic female who developed episodes of limb paralysis, motor unresponsiveness, and self-injurious behaviors following a history of sexual abuse by a family member. Despite the initial absence of depressive symptoms, the patient later met criteria for major depressive disorder (MDD) and post-traumatic stress disorder (PTSD). Her neurological symptoms lacked identifiable medical findings, following unremarkable results from comprehensive blood work, …


Multi-Ancestry Genome-Wide Meta-Analysis Of 56,241 Individuals Identifies Known And Novel Cross-Population And Ancestry-Specific Associations As Novel Risk Loci For Alzheimer’S Disease, Nicholas Kushch, Jin Sha, Katrina Bazemore, Congcong Zhu, Wan-Ping Lee, Jacob Haut, Kara L Hamilton-Nelson, Nicholas R Wheeler, Yi Zhao, John J Farrell, Michelle A Grunin, Yuk Yee Leung, Pavel P Kuksa, Donghe Li, Eder Lucio Da Fonseca, Jesse B Mez, Ellen L Palmer, Jagan Pillai, Richard M Sherva, Yeunjoo E Song, Xiaoling Zhang, Takeshi Ikeuchi, Taha Iqbal, Omkar Pathak, Otto Valladares, Dolly Reyes-Dumeyer, Amanda B Kuzma, Erin Abner, Larry D Adams, Perrie M Adams, Alyssa Aguirre, Marilyn S Albert, Roger L Albin, Mariet Allen, Lisa Alvarez, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Sanford Auerbach, Gayle Ayres, Clinton T Baldwin, Robert C Barber, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Gary W Beecham, Duane Beekly, Bruno A Benitez, David Bennett, John Bertelson, Thomas D Bird, Deborah Blacker, Bradley F Boeve, James D Bowen, Adam Boxer, James Brewer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Laura B Cantwell, Chuanhai Cao, Christopher S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Scott Chasse, Marie-Francoise Chesselet, Nathaniel A Chin, Helena C Chui, Jaeyoon Chung, Suzanne Craft, Paul K Crane, David H Cribbs, Elizabeth A Crocco, Carlos Cruchaga, Michael L Cuccaro, Munro Cullum, Eveleen Darby, Barbara Davis, Philip L De Jager, Charles Decarli, John Detoledo, Malcolm Dick, Dennis W Dickson, Beth A Dombroski, Rachelle S Doody, Ranjan Duara, Nilüfer Ertekin-Taner, Denis A Evans, Kelley M Faber, Thomas J Fairchild, Kenneth B Fallon, David W Fardo, Martin R Farlow, Victoria Fernandez-Hernandez, Steven Ferris, Robert P Friedland, Tatiana M Foroud, Matthew P Frosch, Brian Fulton-Howard, Douglas R Galasko, Adriana Gamboa, Marla Gearing, Daniel H Geschwind, Bernardino Ghetti, John R Gilbert, Rodney C P Go, Alison M Goate, Thomas J Grabowski, Neill R Graff-Radford, Robert C Green, John H Growdon, Hakon Hakonarson, James Hall, Ronald L Hamilton, Oscar Harari, John Hardy, Lindy E Harrell, Elizabeth Head, Victor W Henderson, Michelle Hernandez, Timothy Hohman, Lawrence S Honig, Ryan M Huebinger, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Linda S Hynan, Laura Ibanez, Gail P Jarvik, Suman Jayadev, Lee-Way Jin, Kim Johnson, Leigh Johnson, M Ilyas Kamboh, Anna M Karydas, Mindy J Katz, John S Kauwe, Jeffrey A Kaye, C Dirk Keene, Aisha Khaleeq, Masataka Kikuchi, Ronald Kim, Janice Knebl, Neil W Kowall, Joel H Kramer, Walter A Kukull, Frank M Laferla, James J Lah, Eric B Larson, Alan Lerner, James B Leverenz, Allan I Levey, Andrew P Lieberman, Richard B Lipton, Mark Logue, Oscar L Lopez, Kathryn L Lunetta, Constantine G Lyketsos, Douglas Mains, Flanagan E Margaret, Daniel C Marson, Eden Rr Martin, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Paul Massman, Arjun Masurkar, Wayne C Mccormick, Susan M Mccurry, Andrew N Mcdavid, Stefan Mcdonough, Ann C Mckee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, Thomas J Montine, Edwin S Monuki, John C Morris, Shubhabrata Mukherjee, Amanda J Myers, Trung Nguyen, Thomas Obisesan, Sid O'Bryant, John M Olichney, Marcia Ory, Raymond Palmer, Joseph E Parisi, Henry L Paulson, Valory Pavlik, David Paydarfar, Victoria Perez, Elaine Peskind, Ronald C Petersen, Helen Petrovitch, Aimee Pierce, Marsha Polk, Wayne W Poon, Huntington Potter, Liming Qu, Mary Quiceno, Joseph F Quinn, Ashok Raj, Murray Raskind, Eric M Reiman, Barry Reisberg, Joan S Reisch, John M Ringman, Erik D Roberson, Monica Rodriguear, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Donald R Royall, Marwan Sabbagh, A Dessa Sadovnick, Mark A Sager, Mary Sano, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Susan H Slifer, Scott Small, Amanda G Smith, Janet P Smith, Joshua A Sonnen, Salvatore Spina, Peter St George-Hyslop, Takiyah D Starks, Robert A Stern, Alan B Stevens, Stephen M Strittmatter, David Sultzer, Russell H Swerdlow, Rudolph E Tanzi, Jeffrey L Tilson, John Q Trojanowski, Juan C Troncoso, Magda Tsolaki, Debby W Tsuang, Vivianna M Van Deerlin, Linda J Van Eldik, Jeffery M Vance, Badri N Vardarajan, Robert Vassar, Harry V Vinters, Jean-Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Patrice L Whitehead, Ellen M Wijsman, Kirk C Wilhelmsen, Benjamin Williams, Jennifer Williamson, Henrik Wilms, Thomas S Wingo, Thomas Wisniewski, Randall L Woltjer, Martin Woon, Clinton B Wright, Chuang-Kuo Wu, Steven G Younkin, Chang-En Yu, Lei Yu, Xiongwei Zhu, Brian W Kunkle, William S Bush, Akinori Miyashita, Goldie S Byrd, Li-San Wang, Lindsay A Farrer, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Gerard D Schellenberg, Gyungah R Jun, Christiane Reitz, Adam C Naj, Alzheimer’S Disease Genetics Consortium (Adgc) Jul 2025

Multi-Ancestry Genome-Wide Meta-Analysis Of 56,241 Individuals Identifies Known And Novel Cross-Population And Ancestry-Specific Associations As Novel Risk Loci For Alzheimer’S Disease, Nicholas Kushch, Jin Sha, Katrina Bazemore, Congcong Zhu, Wan-Ping Lee, Jacob Haut, Kara L Hamilton-Nelson, Nicholas R Wheeler, Yi Zhao, John J Farrell, Michelle A Grunin, Yuk Yee Leung, Pavel P Kuksa, Donghe Li, Eder Lucio Da Fonseca, Jesse B Mez, Ellen L Palmer, Jagan Pillai, Richard M Sherva, Yeunjoo E Song, Xiaoling Zhang, Takeshi Ikeuchi, Taha Iqbal, Omkar Pathak, Otto Valladares, Dolly Reyes-Dumeyer, Amanda B Kuzma, Erin Abner, Larry D Adams, Perrie M Adams, Alyssa Aguirre, Marilyn S Albert, Roger L Albin, Mariet Allen, Lisa Alvarez, Liana G Apostolova, Steven E Arnold, Sanjay Asthana, Craig S Atwood, Sanford Auerbach, Gayle Ayres, Clinton T Baldwin, Robert C Barber, Lisa L Barnes, Sandra Barral, Thomas G Beach, James T Becker, Gary W Beecham, Duane Beekly, Bruno A Benitez, David Bennett, John Bertelson, Thomas D Bird, Deborah Blacker, Bradley F Boeve, James D Bowen, Adam Boxer, James Brewer, James R Burke, Jeffrey M Burns, Joseph D Buxbaum, Nigel J Cairns, Laura B Cantwell, Chuanhai Cao, Christopher S Carlson, Cynthia M Carlsson, Regina M Carney, Minerva M Carrasquillo, Scott Chasse, Marie-Francoise Chesselet, Nathaniel A Chin, Helena C Chui, Jaeyoon Chung, Suzanne Craft, Paul K Crane, David H Cribbs, Elizabeth A Crocco, Carlos Cruchaga, Michael L Cuccaro, Munro Cullum, Eveleen Darby, Barbara Davis, Philip L De Jager, Charles Decarli, John Detoledo, Malcolm Dick, Dennis W Dickson, Beth A Dombroski, Rachelle S Doody, Ranjan Duara, Nilüfer Ertekin-Taner, Denis A Evans, Kelley M Faber, Thomas J Fairchild, Kenneth B Fallon, David W Fardo, Martin R Farlow, Victoria Fernandez-Hernandez, Steven Ferris, Robert P Friedland, Tatiana M Foroud, Matthew P Frosch, Brian Fulton-Howard, Douglas R Galasko, Adriana Gamboa, Marla Gearing, Daniel H Geschwind, Bernardino Ghetti, John R Gilbert, Rodney C P Go, Alison M Goate, Thomas J Grabowski, Neill R Graff-Radford, Robert C Green, John H Growdon, Hakon Hakonarson, James Hall, Ronald L Hamilton, Oscar Harari, John Hardy, Lindy E Harrell, Elizabeth Head, Victor W Henderson, Michelle Hernandez, Timothy Hohman, Lawrence S Honig, Ryan M Huebinger, Matthew J Huentelman, Christine M Hulette, Bradley T Hyman, Linda S Hynan, Laura Ibanez, Gail P Jarvik, Suman Jayadev, Lee-Way Jin, Kim Johnson, Leigh Johnson, M Ilyas Kamboh, Anna M Karydas, Mindy J Katz, John S Kauwe, Jeffrey A Kaye, C Dirk Keene, Aisha Khaleeq, Masataka Kikuchi, Ronald Kim, Janice Knebl, Neil W Kowall, Joel H Kramer, Walter A Kukull, Frank M Laferla, James J Lah, Eric B Larson, Alan Lerner, James B Leverenz, Allan I Levey, Andrew P Lieberman, Richard B Lipton, Mark Logue, Oscar L Lopez, Kathryn L Lunetta, Constantine G Lyketsos, Douglas Mains, Flanagan E Margaret, Daniel C Marson, Eden Rr Martin, Frank Martiniuk, Deborah C Mash, Eliezer Masliah, Paul Massman, Arjun Masurkar, Wayne C Mccormick, Susan M Mccurry, Andrew N Mcdavid, Stefan Mcdonough, Ann C Mckee, Marsel Mesulam, Bruce L Miller, Carol A Miller, Joshua W Miller, Thomas J Montine, Edwin S Monuki, John C Morris, Shubhabrata Mukherjee, Amanda J Myers, Trung Nguyen, Thomas Obisesan, Sid O'Bryant, John M Olichney, Marcia Ory, Raymond Palmer, Joseph E Parisi, Henry L Paulson, Valory Pavlik, David Paydarfar, Victoria Perez, Elaine Peskind, Ronald C Petersen, Helen Petrovitch, Aimee Pierce, Marsha Polk, Wayne W Poon, Huntington Potter, Liming Qu, Mary Quiceno, Joseph F Quinn, Ashok Raj, Murray Raskind, Eric M Reiman, Barry Reisberg, Joan S Reisch, John M Ringman, Erik D Roberson, Monica Rodriguear, Ekaterina Rogaeva, Howard J Rosen, Roger N Rosenberg, Donald R Royall, Marwan Sabbagh, A Dessa Sadovnick, Mark A Sager, Mary Sano, Andrew J Saykin, Julie A Schneider, Lon S Schneider, William W Seeley, Susan H Slifer, Scott Small, Amanda G Smith, Janet P Smith, Joshua A Sonnen, Salvatore Spina, Peter St George-Hyslop, Takiyah D Starks, Robert A Stern, Alan B Stevens, Stephen M Strittmatter, David Sultzer, Russell H Swerdlow, Rudolph E Tanzi, Jeffrey L Tilson, John Q Trojanowski, Juan C Troncoso, Magda Tsolaki, Debby W Tsuang, Vivianna M Van Deerlin, Linda J Van Eldik, Jeffery M Vance, Badri N Vardarajan, Robert Vassar, Harry V Vinters, Jean-Paul Vonsattel, Sandra Weintraub, Kathleen A Welsh-Bohmer, Patrice L Whitehead, Ellen M Wijsman, Kirk C Wilhelmsen, Benjamin Williams, Jennifer Williamson, Henrik Wilms, Thomas S Wingo, Thomas Wisniewski, Randall L Woltjer, Martin Woon, Clinton B Wright, Chuang-Kuo Wu, Steven G Younkin, Chang-En Yu, Lei Yu, Xiongwei Zhu, Brian W Kunkle, William S Bush, Akinori Miyashita, Goldie S Byrd, Li-San Wang, Lindsay A Farrer, Jonathan L Haines, Richard Mayeux, Margaret A Pericak-Vance, Gerard D Schellenberg, Gyungah R Jun, Christiane Reitz, Adam C Naj, Alzheimer’S Disease Genetics Consortium (Adgc)

Faculty, Staff and Students Publications

Background: Limited ancestral diversity has impaired our ability to detect risk variants more prevalent in ancestry groups of predominantly non-European ancestral background in genome-wide association studies (GWAS). We construct and analyze a multi-ancestry GWAS dataset in the Alzheimer's Disease Genetics Consortium (ADGC) to test for novel shared and population-specific late-onset Alzheimer's disease (LOAD) susceptibility loci and evaluate underlying genetic architecture in 37,382 non-Hispanic White (NHW), 6728 African American, 8899 Hispanic (HIS), and 3232 East Asian individuals, performing within ancestry fixed-effects meta-analysis followed by a cross-ancestry random-effects meta-analysis.

Results: We identify 13 loci with cross-population associations including known loci at/near CR1, …


Sensing The Stiffness: Cellular Mechano-Sensing At The Implant Interface, Aladin M Boriek Jul 2025

Sensing The Stiffness: Cellular Mechano-Sensing At The Implant Interface, Aladin M Boriek

Faculty, Staff and Students Publications

In this perspective, we highlight the relevance of the FA-Hippo signaling pathway and its regulation of the Yes-associated protein (YAP) and the transcriptional coactivator with a PDZ-binding domain (TAZ) as main players in the process of implants integration. The modulation and responses of YAP/TAZ triggered by substrate and ECM stiffness are of particular interest in the construction of materials used for medical implants. YAP/TAZ nuclear localization and activity respond to the substrate stiffness by several mechanisms that involve the canonical and non-canonical Hippo signaling and independently of the Hippo cascade. YAP/TAZ regulate the expression of genes involved in several mechanisms …


Audit Of The Impact Of The Pause In The National Screening Service For Breast Cancer During The Covid-19 Pandemic, Ava Coakley Jul 2025

Audit Of The Impact Of The Pause In The National Screening Service For Breast Cancer During The Covid-19 Pandemic, Ava Coakley

International Undergraduate Journal of Health Sciences

In Ireland there is a free national screening service for breast cancer called BreastCheck. BreastCheck invites women aged fifty to sixty-nine to have screening mammograms once every two years to detect any densities in their breast mammogram which could indicate breast cancer. If densities are seen on a mammogram a breast core is sampled and sent to a histopathology laboratory where a part of the tissue is examined by a consultant pathologist using a microscope. Further tests can then be performed on this sample if it is diagnosed as breast cancer. Tests include immunohistochemistry and dual in-situ hybridisation (DISH). BreastCheck …


Ldt Fda Ruling: A Conundrum For Laboratories Across The Usa, Charma Henry Jul 2025

Ldt Fda Ruling: A Conundrum For Laboratories Across The Usa, Charma Henry

MSMLS Capstone Projects

Abstract

In the article “The Future of Laboratory Medicine Understanding the New Pressures," author Mauro Panteghini expresses that the clinical laboratory has always undergone significant changes due to technological advances and external economic pressures. “Laboratories are indeed an easy target for economic restrictions and limitations due to their technological characteristics.” (Panteghini, 2004, pg. 205) Though these words were written over 20 years ago, no more valid words have been spoken in light of the newest pressure all laboratories face with the new LDT regulation set by the FDA.

This regulation places drastic economic pressure on laboratories to pay the FDA …


Bowel Regimen Protocol Implementation For Pediatric Patients Following Cardiac Surgery, Eryn Watson Jul 2025

Bowel Regimen Protocol Implementation For Pediatric Patients Following Cardiac Surgery, Eryn Watson

Dissertations

Problem: Pediatric patients with congenital heart disease (CHD) are at an increased risk of constipation following cardiac surgery, which contributes to complications and delays in recovery. Standardized protocols are effective tools for prophylactic management of constipation. However, there is no current standardized protocol in place for postoperative bowel management in a pediatric cardiac intensive care unit (CICU).

Method: This quality improvement project (QI) used a descriptive design with pre- and post-implementation data collection to evaluate the effects of a postoperative bowel regimen protocol on constipation rates and compliance with ordering prophylactic bowel regimens. Convenience sampling was used to identify patients …


Anesthetic Management For Delivery In Parturients With Heart Disease: A Narrative Review, Shahab Ahmadzadeh, Drake P. Duplechin, Paris D. Bailey, Dillon T. Duplechan, Alexia J. Enache, Peyton Moore, Sahar Shekoohi Jul 2025

Anesthetic Management For Delivery In Parturients With Heart Disease: A Narrative Review, Shahab Ahmadzadeh, Drake P. Duplechin, Paris D. Bailey, Dillon T. Duplechan, Alexia J. Enache, Peyton Moore, Sahar Shekoohi

School of Medicine Faculty Publications

Cardiac disease remains a leading cause of maternal morbidity and mortality, particularly in developed countries where improved survival has increased the number of pregnant patients with congenital heart disease. The physiological changes of pregnancy, such as increased blood volume, cardiac output, and hypercoagulability, can exacerbate preexisting cardiac conditions, posing significant anesthetic challenges during cesarean delivery. This review outlines anesthetic strategies for parturients with structural or functional cardiac disease, emphasizing individualized, multidisciplinary care. We examine general and regional anesthesia approaches, intraoperative monitoring, and hemodynamic goals, including fluid balance, venous return optimization, and myocardial oxygen demand reduction. Preoperative risk stratification and coordination …


Vibration-Based Detection For The Monitoring Of Neonatal Bcpap Respiratory Support To Minimize Duration Of Disconnections, Kaitlyn G. Calabresi, Meera R. Bhat, Lavinia L. Kong, Eli J. Foster, Jonathan Wang, Sangeeta Koilada, Angela Mak, Aastha Kapadia, Niam Mohseni, W. Keith Leung, Suneetha Desiraju, Constanza Miranda Jul 2025

Vibration-Based Detection For The Monitoring Of Neonatal Bcpap Respiratory Support To Minimize Duration Of Disconnections, Kaitlyn G. Calabresi, Meera R. Bhat, Lavinia L. Kong, Eli J. Foster, Jonathan Wang, Sangeeta Koilada, Angela Mak, Aastha Kapadia, Niam Mohseni, W. Keith Leung, Suneetha Desiraju, Constanza Miranda

School of Medicine Faculty Publications

Bubble continuous positive airway pressure (bCPAP) is a minimally invasive respiratory support for neonates experiencing respiratory distress syndrome (RDS). It exerts continuous, oscillatory air pressure to encourage lung function and development. Neonates’ movement may cause disconnections at the nasal interface. These disconnections are characterized by the cessation of bubbling at the bCPAP respiratory circuit output and frequently go unnoticed until hypoxia develops. Common Neonatal Intensive Care Unit (NICU) bCPAP systems lack a built-in alarm or accessory device to monitor for disconnections. As a result, nursing personnel must exercise extreme caution utilizing current bCPAP procedure. If a neonate is disconnected, it …


Spase: Spatially Resolved Pathology Scores Using Optimal Transport On Spatial Transcriptomics Data, James F Martin, M Saifur Rahman, Md Abul Hassan Samee Jul 2025

Spase: Spatially Resolved Pathology Scores Using Optimal Transport On Spatial Transcriptomics Data, James F Martin, M Saifur Rahman, Md Abul Hassan Samee

Faculty, Staff and Students Publications

Pathological events often impact tissue regions in a spatial variable manner, making it challenging to identify therapeutic targets. Spatial transcriptomics (ST) is a powerful technology to map spatially variable molecular mechanisms, yet suitable analytical methods have been lacking. We introduce SPaSE (Spatially-resolved Pathology ScorE), an optimal transport-based algorithm to compare ST data from diseased and control tissues. SPaSE computes a “pathology score” for each spot in the diseased sample, quantifying the pathological impact at that spot. In post-MI (myocardial infarction) mouse hearts, these scores delineated zones that matched independent expert annotations. Modeling pathology scores from gene expression revealed signatures predictive …


Development And Extensive Sequencing Of A Broadly-Consented Genome In A Bottle Matched Tumor-Normal Pair, Hua-Jun He, Zhiyong He, Kenneth D Cole, Alexander A Gooden, Anthony Schmitt, Kristin Sikkink, Fritz J Sedlazeck, Harsha Doddapaneni, Shalini N Jhangiani, Donna M Muzny, Marie-Claude Gingras, Heer Mehta, Sairam Behera, Luis F Paulin, Alex R Hastie, Hung-Chun Yu, Victor Weigman, Alison Rojas, Katie Kennedy, Jamie Remington, Isai Salas-González, Mitch Sudkamp, Kelly Wiseman, Bryan R Lajoie, Shawn Levy, Miten Jain, Stuart Akeson, Giuseppe Narzisi, Zoe Steinsnyder, Catherine Reeves, Jennifer Shelton, Sarah B Kingan, Christine Lambert, Primo Baybayan, Aaron M Wenger, Ian J Mclaughlin, Aaron Adamson, Christopher Kingsley, Melanie Wescott, Young Kim, Benedict Paten, Jimin Park, Ivo Violich, Karen H Miga, Joshua Gardner, Brandy Mcnulty, Gail L Rosen, Rajiv Mccoy, Francesco Brundu, Erfan Sayyari, Konrad Scheffler, Sean Truong, Severine Catreux, Lesley Chapman Hannah, Doron Lipson, Hila Benjamin, Nika Iremadze, Ilya Soifer, Gat Krieger, Stephen Eacker, Mary Wood, Erin Cross, Greg Husar, Stephen Gross, Michael Vernich, Mikhail Kolmogorov, Tanveer Ahmad, Ayse G Keskus, Asher Bryant, Francoise Thibaud-Nissen, Jonathan Trow, Jacqueline Proszynski, Jeremy Wain Hirschberg, Krista Ryon, Christopher E Mason, Mital S Bhakta, J Zachary Sanborn, Elizabeth M Munding, Justin Wagner, Chunlin Xiao, Andrew S Liss, Justin M Zook Jul 2025

Development And Extensive Sequencing Of A Broadly-Consented Genome In A Bottle Matched Tumor-Normal Pair, Hua-Jun He, Zhiyong He, Kenneth D Cole, Alexander A Gooden, Anthony Schmitt, Kristin Sikkink, Fritz J Sedlazeck, Harsha Doddapaneni, Shalini N Jhangiani, Donna M Muzny, Marie-Claude Gingras, Heer Mehta, Sairam Behera, Luis F Paulin, Alex R Hastie, Hung-Chun Yu, Victor Weigman, Alison Rojas, Katie Kennedy, Jamie Remington, Isai Salas-González, Mitch Sudkamp, Kelly Wiseman, Bryan R Lajoie, Shawn Levy, Miten Jain, Stuart Akeson, Giuseppe Narzisi, Zoe Steinsnyder, Catherine Reeves, Jennifer Shelton, Sarah B Kingan, Christine Lambert, Primo Baybayan, Aaron M Wenger, Ian J Mclaughlin, Aaron Adamson, Christopher Kingsley, Melanie Wescott, Young Kim, Benedict Paten, Jimin Park, Ivo Violich, Karen H Miga, Joshua Gardner, Brandy Mcnulty, Gail L Rosen, Rajiv Mccoy, Francesco Brundu, Erfan Sayyari, Konrad Scheffler, Sean Truong, Severine Catreux, Lesley Chapman Hannah, Doron Lipson, Hila Benjamin, Nika Iremadze, Ilya Soifer, Gat Krieger, Stephen Eacker, Mary Wood, Erin Cross, Greg Husar, Stephen Gross, Michael Vernich, Mikhail Kolmogorov, Tanveer Ahmad, Ayse G Keskus, Asher Bryant, Francoise Thibaud-Nissen, Jonathan Trow, Jacqueline Proszynski, Jeremy Wain Hirschberg, Krista Ryon, Christopher E Mason, Mital S Bhakta, J Zachary Sanborn, Elizabeth M Munding, Justin Wagner, Chunlin Xiao, Andrew S Liss, Justin M Zook

Faculty, Staff and Students Publications

The Genome in a Bottle Consortium (GIAB), hosted by the National Institute of Standards and Technology (NIST), is developing new matched tumor-normal samples, the first explicitly consented for public dissemination of genomic data and cell lines. Here, we describe a comprehensive genomic dataset from the first individual, HG008, including DNA from an adherent, epithelial-like pancreatic ductal adenocarcinoma (PDAC) tumor cell line and matched normal cells from duodenal and pancreatic tissues. Data for the tumor-normal matched samples comes from seventeen distinct state-of-the-art whole genome measurement technologies, including high depth short and long-read bulk whole genome sequencing (WGS), single cell WGS, Hi-C, …


Elimination Of Hiv Reservoirs Harboring Intact Proviruses, Baichao Sun, Min Chen, Jason T Kimata, Jin Wang Jul 2025

Elimination Of Hiv Reservoirs Harboring Intact Proviruses, Baichao Sun, Min Chen, Jason T Kimata, Jin Wang

Faculty, Staff and Students Publications

Background: Human immunodeficiency virus (HIV) establishes persistent infection by integrating its proviral DNA into the host genome. While most integrated proviruses are defective, a small portion of proviruses are intact that represent a major obstacle to achieving an HIV cure. We have designed an approach for selective elimination of host cells harboring replication-competent HIV (SECH), through inhibition of autophagy and anti-apoptotic molecules during viral reactivation. However, the effects of SECH on the dynamics of intact and defective HIV provirus remain unclear.

Methods: We isolated DNA from HIV-infected samples after SECH treatments. We analyzed HIV-1 proviruses in these samples by intact …


Specialty Grand Challenge: Existing Issues And Emerging Frontiers In Renal Endocrinology, A. T. M. Emdadul Haque, Mohammed S. Razzaque Jul 2025

Specialty Grand Challenge: Existing Issues And Emerging Frontiers In Renal Endocrinology, A. T. M. Emdadul Haque, Mohammed S. Razzaque

School of Medicine Publications

We are currently in an exciting time to advance the field of renal endocrinology. There has never been a more favorable time to study the molecular and cellular mechanisms underlying renal hormone functions in physiology, pharmacology, and pathophysiology. The availability of advanced research tools provides unique opportunities to dissect the complex regulatory roles of renal hormones. The kidneys are vital organs in the human body; each one is composed of approximately one million functional nephrons. Understanding the precise roles and regulation of kidney-derived hormones and hormones that exert endocrine effects on the kidneys will help in preventing or delaying various …


Clinical Outcomes In Patients With Schizophrenia Treated With Long-Acting Injectable Vs Oral Antipsychotics: A Naturalistic Study, Gianluca Boggio, Andrea Brugnami, Greta Sfratta, Delfina Janiri, Gabriele Sani, Alessio Simonetti Jul 2025

Clinical Outcomes In Patients With Schizophrenia Treated With Long-Acting Injectable Vs Oral Antipsychotics: A Naturalistic Study, Gianluca Boggio, Andrea Brugnami, Greta Sfratta, Delfina Janiri, Gabriele Sani, Alessio Simonetti

Faculty, Staff and Students Publications

Background/Objectives: Long-acting injectable antipsychotics (LAIs) represent a significant advancement in the treatment of schizophrenia (SCZ), particularly for improving adherence and long-term outcomes. This study aimed to assess the clinical outcomes of patients receiving atypical LAIs compared to those on various oral antipsychotics over a one-year follow-up in a naturalistic setting.

Methods: Sixty patients with SCZ were subdivided in two groups, those receiving LAIs (n = 25) and those receiving oral antipsychotics (n = 35). The groups were comparable for age, gender, educational attainment, employment status, marital status, smoking habits, and baseline SCZ severity, with no differences …


Altered Patterning Of Neural Activity In A Neuropathology, Daoyun Ji, Yuri Dabaghian Jul 2025

Altered Patterning Of Neural Activity In A Neuropathology, Daoyun Ji, Yuri Dabaghian

Faculty, Staff and Students Publications

The dynamics of neural circuits and their role in mediating cellular and organismal phenomena remain poorly understood, despite numerous efforts to dissect these processes through precise instantaneous measurements or longer-time averages and approximations. We use an alternative approach: we investigate these dynamics at the system's mesoscale by analyzing spike trains and waveforms. These extended activity patterns carry robust, tractable information, are highly responsive to physiological specifics, and enable detailed tracking of circuit behavior. In particular, this methodology allows for characterizing the functionality of tau-pathology-afflicted hippocampal circuits and identifying circuit-level abnormalities that are missed by through traditional analyses. In healthy mice, …


Race-Neutral Pft: Implementing Patient Activation Measure Following Race- Neutral Pulmonary Function Testing, Ann M. Way Jul 2025

Race-Neutral Pft: Implementing Patient Activation Measure Following Race- Neutral Pulmonary Function Testing, Ann M. Way

Dissertations

Abstract

Background

The introduction of a race-neutral equation to predict normal values on pulmonary function testing (PFT) has led to changes in the diagnosis of pulmonary diseases previously diagnosed using a race specific equation. Minority patients appear to be most likely impacted by this change, potentially impacting how they self-manage their pulmonary health. Patient self-management can be measured and assessed by using the Patient Activation Measure (PAM) tool.

Purpose

The purpose of this project is to assess patient activation levels amongst minority patients with a new or changed pulmonary diagnosis to identify a possible need for interventions to improve patient …


Care Coordination In Pediatric Primary Care, Alyssa K. Durzo Jul 2025

Care Coordination In Pediatric Primary Care, Alyssa K. Durzo

Dissertations

No central documentation of care plans exists for children with special healthcare needs (CSHCN) in the electronic health record (EHR). Providers of a large pediatric primary care office in St. Louis Missouri were asked to identify CSHCN in the practice. Clinic nurses completed a comprehensive chart review of the patients identified and constructed care coordination documents using a pre-established smart-text phrase. Subsequently, these were documented centrally in the EHR under the Problem List.

Likert score data was obtained from providers on the acceptability, appropriateness, and feasibility of the intervention through the verified tools: Acceptability of Intervention Measure (AIM), Intervention Appropriateness …


Priority Ir: Protocol For Implementation Research On Single-Dose Postpartum Iv Iron To Treat Iron-Deficiency Anemia Among Women In India And Pakistan, Valerie L. Flax, Narjis Rizvi, Umesh Charantimath, Saleem Jessani, Avinash Kavi, Sarah Saleem, Manjunath Somannavar, Shivaprasad S. Goudar, Anika Hannan, Elizabeth M. Mcclure, Simal Thind, Rosemary Frasso, Richard Derman Jul 2025

Priority Ir: Protocol For Implementation Research On Single-Dose Postpartum Iv Iron To Treat Iron-Deficiency Anemia Among Women In India And Pakistan, Valerie L. Flax, Narjis Rizvi, Umesh Charantimath, Saleem Jessani, Avinash Kavi, Sarah Saleem, Manjunath Somannavar, Shivaprasad S. Goudar, Anika Hannan, Elizabeth M. Mcclure, Simal Thind, Rosemary Frasso, Richard Derman

Global Health Articles

BACKGROUND: Anemia among women of reproductive age has remained highly prevalent globally. Intravenous (IV) iron is well tolerated and proven effective for treating postpartum iron deficiency anemia in high-income countries, but evidence from LMICs, where oral iron is standard treatment, is limited. The PRIORITY trial will test the effectiveness of IV iron compared to oral iron for postpartum women with moderate anemia in eight LMIC sites. An implementation research (IR) study will be conducted alongside the PRIORITY trial in India and Pakistan to gather information on the intervention characteristics and the implementation process, and to assess feasibility, acceptability, fidelity, and …


Best Practice Toolkit For Burnout Prevention In Emergency Department Nurses, Moises A. De Oleo Jul 2025

Best Practice Toolkit For Burnout Prevention In Emergency Department Nurses, Moises A. De Oleo

Student Scholarly Projects

Practice Problem: Burnout Syndrome (BS) is a serious problem in emergency department (ED) nurses and is associated with higher nurse turnover rates. A burnout prevention toolkit is needed.

PICOT: The project was guided by the following PICO question: "For emergency department nurses (P), how does the development of the best practice burnout prevention toolkit (I), compared to the absence of a structured intervention (C), support the establishment of nurse burnout best practices when evaluated using the CDC Program Evaluation Framework? (O)".

Evidence: The analysis of the literature supported the implementation of active interventions in the form of workshops.

Intervention: A …


Lichen Planopilaris With Pili Torti And Ectodermal Dysplasia: A Hair Curling Case Report, Collins Langley, Elena Plakotaris, Nicole E. Rogers Jul 2025

Lichen Planopilaris With Pili Torti And Ectodermal Dysplasia: A Hair Curling Case Report, Collins Langley, Elena Plakotaris, Nicole E. Rogers

School of Medicine Faculty Publications

Introduction: Lichen planopilaris (LPP) is a well-known cicatricial alopecia with a frontal fibrosing variant. LPP has a prevalence rate of 13.4 per 100,000 persons. It is understood that LPP favors the female populations. What is not commonly known is that LPP can be preceded by other signs and symptoms such as pili torti. Case Report: We present a case report of a 70-year-old female whose initial flare of LPP was preceded by a flare of pili torti. This patient's case is also complicated by her history of ectodermal dysplasia. She experienced progressive itching, shedding, and mid-scalp hair loss along with …


Predictors Of Final Visual Outcome In Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy, Robert C Sergott, Valerio Carelli, Nancy Newman, Valérie Biousse, Patrick Yu-Wai-Man, Catherine Vignal-Clermont, Constant Josse, Magali Taiel, José-Alain Sahel, Piero Barboni Jul 2025

Predictors Of Final Visual Outcome In Patients With Leber Hereditary Optic Neuropathy Treated With Lenadogene Nolparvovec Gene Therapy, Robert C Sergott, Valerio Carelli, Nancy Newman, Valérie Biousse, Patrick Yu-Wai-Man, Catherine Vignal-Clermont, Constant Josse, Magali Taiel, José-Alain Sahel, Piero Barboni

Wills Eye Hospital Papers

PURPOSE: This exploratory analysis aimed to identify predictive factors of final best-corrected visual acuity (BCVA) in patients with Leber hereditary optic neuropathy (LHON) harboring the m.11778G>A mutation who received lenadogene nolparvovec gene therapy.

METHODS: The following covariates were individually evaluated as possible factors associated with improved final BCVA: age, gender, timing of treatment, baseline BCVA value, and baseline optical coherence tomography (OCT) parameters. Univariate analyses were performed from three phase 3 studies (RESCUE, REVERSE, and REFLECT), using BCVA at 1.5 years post-treatment as the dependent variable.

RESULTS: In 113 eyes treated at least 6 months after disease onset, the …


Comparative Efficacy And Safety Of Cryoballoon Vs Laser Balloon Ablation For Pulmonary Vein Isolation In Patients With Paroxysmal Atrial Fibrillation, Mahmoud Ali, Dorota Magdon, Abdulghani Mounir, Lynn Erickson, James Adefisoye, Jim Kanani, Andy Kieu, Abdullah Malik, Ali Ali, Nour Ghosoun, Jodi Zilinski, Arshad Jahangir, M. Eyman Mortada, Imran Niazi, Atul Bhatia Jul 2025

Comparative Efficacy And Safety Of Cryoballoon Vs Laser Balloon Ablation For Pulmonary Vein Isolation In Patients With Paroxysmal Atrial Fibrillation, Mahmoud Ali, Dorota Magdon, Abdulghani Mounir, Lynn Erickson, James Adefisoye, Jim Kanani, Andy Kieu, Abdullah Malik, Ali Ali, Nour Ghosoun, Jodi Zilinski, Arshad Jahangir, M. Eyman Mortada, Imran Niazi, Atul Bhatia

Journal of Patient-Centered Research and Reviews

Purpose: Atrial fibrillation (AF), the most common arrhythmia in older adults, is often treated with cryoballoon ablation (CBA) or laser balloon ablation (LBA) when refractory to medication. We used real-world patient data to investigate differences in arrhythmia-free survival, procedure and fluoroscopy times, and complications between these techniques.

Methods: In this single-center, retrospective study of 178 patients with symptomatic paroxysmal AF referred for first-time pulmonary vein isolation (PVI), 103 underwent CBA, and 75 underwent LBA. Recurrence was defined as any atrial arrhythmia of > 30 seconds’ duration after a three-month blanking period. Complications at 30 days were recorded. Kaplan-Meier analysis was used …


Patient Information Needs During Ambulatory Medication Changes: A Qualitative Study, Elaine Giletta, Vanessa B. Hurley, Yushi Yang, Jessica L. Schwartz, Rabia Jalalzai, Nicole L. Mollenkopf, Raquel Mayne, Samantha I. Pitts Jul 2025

Patient Information Needs During Ambulatory Medication Changes: A Qualitative Study, Elaine Giletta, Vanessa B. Hurley, Yushi Yang, Jessica L. Schwartz, Rabia Jalalzai, Nicole L. Mollenkopf, Raquel Mayne, Samantha I. Pitts

Journal of Patient-Centered Research and Reviews

Purpose: We performed interviews with patients and caregivers to explore whole-person, whole-regimen information needs at times of routine outpatient medication changes. We categorized information needs in this relatively unstudied context and identified which needs were commonly recognized as insufficiently met.

Methods: We explored the content of the semi-structured interviews, which involved nine patients and two caregivers of pediatric patients, all of whom experienced a recent medication change in the outpatient setting of a large urban academic healthcare system. We used inductive thematic analysis to organize information needs into categories to identify key information gaps.

Results: We identified five categories of …


Epha4 Signaling Dysregulation Links Abnormal Locomotion And The Development Of Idiopathic Scoliosis, Pengfei Zheng, Wen Wen, Kexin Xu, Xi Cheng, Qing Li, Anas M Khanshour, Yoshinao Koike, Junjun Liu, Xin Fan, Nao Otomo, Zefu Chen, Yaqi Li, Lulu Li, Haibo Xie, Panpan Zhu, Xiaoxin Li, Yuchen Niu, Shengru Wang, Sen Liu, Suomao Yuan, Chikashi Terao, Ziquan Li, Shaoke Chen, Xiuli Zhao, Pengfei Liu, Jennifer E Posey, Zhihong Wu, Guixing Qiu, Disco Study Group (Deciphering Disorders Involving Scoliosis & Comorbidities), Shiro Ikegawa, James R Lupski, Jonathan J Rios, Carol A Wise, Jianguo T Zhang, Chengtian Zhao, Nan Wu Jul 2025

Epha4 Signaling Dysregulation Links Abnormal Locomotion And The Development Of Idiopathic Scoliosis, Pengfei Zheng, Wen Wen, Kexin Xu, Xi Cheng, Qing Li, Anas M Khanshour, Yoshinao Koike, Junjun Liu, Xin Fan, Nao Otomo, Zefu Chen, Yaqi Li, Lulu Li, Haibo Xie, Panpan Zhu, Xiaoxin Li, Yuchen Niu, Shengru Wang, Sen Liu, Suomao Yuan, Chikashi Terao, Ziquan Li, Shaoke Chen, Xiuli Zhao, Pengfei Liu, Jennifer E Posey, Zhihong Wu, Guixing Qiu, Disco Study Group (Deciphering Disorders Involving Scoliosis & Comorbidities), Shiro Ikegawa, James R Lupski, Jonathan J Rios, Carol A Wise, Jianguo T Zhang, Chengtian Zhao, Nan Wu

Faculty, Staff and Students Publications

Idiopathic scoliosis (IS) is the most common form of spinal deformity with unclear pathogenesis. In this study, we first reanalyzed the loci associated with IS, drawing upon previous studies. Subsequently, we mapped these loci to candidate genes using either location-based or function-based strategies. To further substantiate our findings, we verified the enrichment of variants within these candidate genes across several large IS cohorts encompassing Chinese, East Asian, and European populations. Consequently, we identified variants in the EPHA4 gene as compelling candidates for IS. To confirm their pathogenicity, we generated zebrafish mutants of epha4a. Remarkably, the zebrafish epha4a mutants exhibited …


Parietal Cortex Is Recruited By Frontal And Cingulate Areas To Support Action Monitoring And Updating During Stopping, Victoria E Gobo, Hernan G Rey, Sarah R Heilbronner, Andrew J Watrous, Benjamin Y Hayden, Sameer A Sheth, Eleonora Bartoli Jul 2025

Parietal Cortex Is Recruited By Frontal And Cingulate Areas To Support Action Monitoring And Updating During Stopping, Victoria E Gobo, Hernan G Rey, Sarah R Heilbronner, Andrew J Watrous, Benjamin Y Hayden, Sameer A Sheth, Eleonora Bartoli

Faculty, Staff and Students Publications

Recent evidence indicates that the intraparietal sulcus (IPS) may play a causal role in action stopping, potentially representing a novel neuromodulation target for inhibitory control dysfunctions. Here, we leverage intracranial recordings in human subjects to establish the timing and directionality of information flow between IPS and prefrontal and cingulate regions during action stopping. Prior to successful inhibition, information flows primarily from the inferior frontal gyrus (IFG), a critical inhibitory control node, to IPS. In contrast, during stopping errors the communication between IPS and IFG is lacking, and IPS is engaged by posterior cingulate cortex, an area outside of the classical …


Role Of Lipoprotein(A) In Atherosclerotic Cardiovascular Disease In South Asian Individuals, Pradeep Natarajan, Harpreet S Bhatia, Anurag Mehta, Jaideep Patel, Matthew Peters, Shreya Pandya, Usman Sagheer, Raman Puri, Salim S Virani, Dinesh K Kalra Jul 2025

Role Of Lipoprotein(A) In Atherosclerotic Cardiovascular Disease In South Asian Individuals, Pradeep Natarajan, Harpreet S Bhatia, Anurag Mehta, Jaideep Patel, Matthew Peters, Shreya Pandya, Usman Sagheer, Raman Puri, Salim S Virani, Dinesh K Kalra

Faculty, Staff and Students Publications

South Asian individuals (SA), representing approximately one quarter of the global population, experience a disproportionately high burden of cardiovascular disease. Some of this increased susceptibility is accounted for by traditional risk factors such as diabetes, hypertension, carbohydrate-rich diets, and rising rates of obesity and metabolic syndrome. However, other previously underappreciated risk factors may also play a crucial role. These include environmental pollution, genetic factors, and Lp(a) (lipoprotein(a)). Various epidemiological and genetic studies support the role of Lp(a) as a causal and independent risk factor for atherosclerotic cardiovascular disease. SA have a higher prevalence of elevated Lp(a) levels (25% have levels …


Exploring The Impact Of The Emergency Department Built Environment On Physician Workplace Stress: A Qualitative Study Utilizing High-Fidelity Virtual Reality, J Matthew Fields, Alan Price, Billie Faircloth, Eden Blas, Marah Sakkal, Sabrina Naumovski, Robert Ries, Callum Hamilton, Kit Elsworth, Morgan Hutchinson, Bon Ku, Christopher Connock, Jennifer Kahoud Jul 2025

Exploring The Impact Of The Emergency Department Built Environment On Physician Workplace Stress: A Qualitative Study Utilizing High-Fidelity Virtual Reality, J Matthew Fields, Alan Price, Billie Faircloth, Eden Blas, Marah Sakkal, Sabrina Naumovski, Robert Ries, Callum Hamilton, Kit Elsworth, Morgan Hutchinson, Bon Ku, Christopher Connock, Jennifer Kahoud

Department of Emergency Medicine Faculty Papers

OBJECTIVES: Physician burnout in emergency medicine has serious consequences. An underrecognized stressor for physicians may be the emergency department (ED) environment itself. EDs can be noisy and chaotic, lack natural light, and have challenging layouts that create patient care and safety concerns. This study examines the relationship between the ED-built environment and physician workplace stress.

METHODS: A qualitative study of ED-attending physicians from a level I trauma center ED in Philadelphia was conducted. Participants underwent a semistructured interview followed by a walkthrough of a high-fidelity virtual reality (VR) simulation of the participant's ED. In the VR simulation, they rated the …