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2022

Thomas Jefferson University

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Full-Text Articles in Medicine and Health Sciences

Community Engagement For Birth Preparedness And Complication Readiness In The Community Level Interventions For Pre-Eclampsia (Clip) Trial In India: A Mixed-Method Evaluation, Avinash Kavi, Mai-Lei Woo Kinshella, Umesh Y Ramadurg, Umesh Charantimath, Geetanjali M Katageri, Chandrashekhar C Karadiguddi, Narayan V Honnungar, Shashidhar G Bannale, Geetanjali I Mungarwadi, Jeffrey N Bone, Marianne Vidler, Laura Magee, Ashalata Mallapur, Shivaprasad S Goudar, Mrutyunjaya Bellad, Richard Derman, Peter Von Dadelszen, The Clip India Working Group Dec 2022

Community Engagement For Birth Preparedness And Complication Readiness In The Community Level Interventions For Pre-Eclampsia (Clip) Trial In India: A Mixed-Method Evaluation, Avinash Kavi, Mai-Lei Woo Kinshella, Umesh Y Ramadurg, Umesh Charantimath, Geetanjali M Katageri, Chandrashekhar C Karadiguddi, Narayan V Honnungar, Shashidhar G Bannale, Geetanjali I Mungarwadi, Jeffrey N Bone, Marianne Vidler, Laura Magee, Ashalata Mallapur, Shivaprasad S Goudar, Mrutyunjaya Bellad, Richard Derman, Peter Von Dadelszen, The Clip India Working Group

Department of Obstetrics and Gynecology Faculty Papers

Objective: To describe the process of community engagement (CE) in northern Karnataka, India and its impact on pre-eclampsia knowledge, birth preparedness and complication readiness, pregnancy-related care seeking and maternal morbidity.

Design: This study was a secondary analysis of a cluster randomised trial of Community Level Interventions for Pre-eclampsia (CLIP). A total of 12 clusters based on primary health centre catchment areas were randomised to intervention or control. CE was conducted in intervention clusters. CE attendance was summarised according to participant group using both quantitative and qualitative assessment. Pre-eclampsia knowledge, birth preparedness, health services engagement and perinatal outcomes was evaluated within …


Efficacy And Safety Of Pacritinib Vs Placebo For Patients With Severe Covid-19: A Phase 2 Randomized Clinical Trial, John Cafardi, Carole Miller, Howard Terebelo, Chad Tewell, Sadia Benzaquen, David Park, Pamela Egan, Daniel Lebovic, Kristen Pettit, Eric Whitman, Douglas Tremblay, Jonathan Feld, Sarah Buckley, Karisse Roman-Torres, Jennifer Smith, Adam Craig, John Mascarenhas Dec 2022

Efficacy And Safety Of Pacritinib Vs Placebo For Patients With Severe Covid-19: A Phase 2 Randomized Clinical Trial, John Cafardi, Carole Miller, Howard Terebelo, Chad Tewell, Sadia Benzaquen, David Park, Pamela Egan, Daniel Lebovic, Kristen Pettit, Eric Whitman, Douglas Tremblay, Jonathan Feld, Sarah Buckley, Karisse Roman-Torres, Jennifer Smith, Adam Craig, John Mascarenhas

Einstein Health Papers

IMPORTANCE: The morbidity and mortality associated with COVID-19 remain high despite advances in standard of care therapy, and the role of anti-inflammatory agents that inhibit the interleukin 6/JAK2 pathway is still being elucidated.

OBJECTIVE: To evaluate the efficacy and safety of the oral JAK2/IRAK1 inhibitor pacritinib vs placebo in the treatment of adults with severe COVID-19.

DESIGN, SETTING, AND PARTICIPANTS: This phase 2, double-blind, placebo-controlled, randomized clinical trial enrolled hospitalized adult patients with severe COVID-19 at 21 centers across the US between June 2020 and February 2021, with approximately 1.5 months of safety follow-up per patient. Data analysis was performed …


Myocardial Infarction With Nonobstructive Coronary Arteries In New-Onset Inflammatory Bowel Disease, Benjamin B. Claxton, George Sun, Ritu Nahar, Christopher Henry Dec 2022

Myocardial Infarction With Nonobstructive Coronary Arteries In New-Onset Inflammatory Bowel Disease, Benjamin B. Claxton, George Sun, Ritu Nahar, Christopher Henry

Division of Gastroenterology and Hepatology Faculty Papers

No abstract provided.


High Local Control And Low Ocular Toxicity Using Ultra-Low-Dose “Boom-Boom” Radiotherapy For Indolent Orbital Lymphoma, Sanjna Shelukar, Christian Fernandez, Zeynep Bas, Lydia Komarnicky, Sara E. Lally, Carol L Shields, Adam Binder, Pierluigi Porcu, Onder Alpdogan, Ubaldo Martinez-Outschoorn, Wenyin Shi Dec 2022

High Local Control And Low Ocular Toxicity Using Ultra-Low-Dose “Boom-Boom” Radiotherapy For Indolent Orbital Lymphoma, Sanjna Shelukar, Christian Fernandez, Zeynep Bas, Lydia Komarnicky, Sara E. Lally, Carol L Shields, Adam Binder, Pierluigi Porcu, Onder Alpdogan, Ubaldo Martinez-Outschoorn, Wenyin Shi

Department of Medical Oncology Faculty Papers

Background: The first line definitive treatment for early-stage indolent B-cell lymphoma is radiation therapy (RT). Due to the sensitivity of orbital structures to radiation, ultra-low-dose RT (4 Gy in 2 fractions, "boom-boom") has and been utilized as an attractive option for orbital lymphoma. In this retrospective study, we evaluated the outcome and toxicity of "boom-boom" RT for indolent orbital lymphoma with an emphasis on ophthalmologic toxicity.

Methods: This is a retrospective case series with 17 patients with orbital lymphoma who received boom-boom RT at a single tertiary referral center between January 2017 and June 2022. Medical records, imaging and radiation …


Association Of Initial Sars-Cov-2 Test Positivity With Patient-Reported Well-Being 3 Months After A Symptomatic Illness., Lauren E Wisk, Michael A Gottlieb, Erica S Spatz, Huihui Yu, Ralph C Wang, B. H. Slovis, Sharon Saydah, Ian D Plumb, Kelli N O'Laughlin, Juan Carlos C Montoy, Samuel A Mcdonald, Zhenqiu Lin, Jin-Mann S Lin, Katherine Koo, Ahamed H Idris, Ryan M Huebinger, Mandy J Hill, Nicole L Gentile, Anna Marie Chang, Jill Anderson, Bala Hota, Arjun K Venkatesh, Robert A Weinstein, Joann G Elmore, Graham Nichol Dec 2022

Association Of Initial Sars-Cov-2 Test Positivity With Patient-Reported Well-Being 3 Months After A Symptomatic Illness., Lauren E Wisk, Michael A Gottlieb, Erica S Spatz, Huihui Yu, Ralph C Wang, B. H. Slovis, Sharon Saydah, Ian D Plumb, Kelli N O'Laughlin, Juan Carlos C Montoy, Samuel A Mcdonald, Zhenqiu Lin, Jin-Mann S Lin, Katherine Koo, Ahamed H Idris, Ryan M Huebinger, Mandy J Hill, Nicole L Gentile, Anna Marie Chang, Jill Anderson, Bala Hota, Arjun K Venkatesh, Robert A Weinstein, Joann G Elmore, Graham Nichol

Department of Emergency Medicine Faculty Papers

IMPORTANCE: Long-term sequelae after symptomatic SARS-CoV-2 infection may impact well-being, yet existing data primarily focus on discrete symptoms and/or health care use.

OBJECTIVE: To compare patient-reported outcomes of physical, mental, and social well-being among adults with symptomatic illness who received a positive vs negative test result for SARS-CoV-2 infection.

DESIGN, SETTING, AND PARTICIPANTS: This cohort study was a planned interim analysis of an ongoing multicenter prospective longitudinal registry study (the Innovative Support for Patients With SARS-CoV-2 Infections Registry [INSPIRE]). Participants were enrolled from December 11, 2020, to September 10, 2021, and comprised adults (aged ≥18 years) with acute symptoms suggestive …


Synaptic Development In Diverse Olfactory Neuron Classes Uses Distinct Temporal And Activity-Related Programs, Michael A. Aimino, Alison T. Depew, Lucas Restrepo, Timothy J. Mosca Nov 2022

Synaptic Development In Diverse Olfactory Neuron Classes Uses Distinct Temporal And Activity-Related Programs, Michael A. Aimino, Alison T. Depew, Lucas Restrepo, Timothy J. Mosca

Farber Institute for Neuroscience Faculty Papers

Developing neurons must meet core molecular, cellular, and temporal requirements to ensure the correct formation of synapses, resulting in functional circuits. However, because of the vast diversity in neuronal class and function, it is unclear whether or not all neurons use the same organizational mechanisms to form synaptic connections and achieve functional and morphologic maturation. Moreover, it remains unknown whether neurons united in a common goal and comprising the same sensory circuit develop on similar timescales and use identical molecular approaches to ensure the formation of the correct number of synapses. To begin to answer these questions, we took advantage …


Methylone And Mdma Pharmacokinetics Following Controlled Administration In Humans, Lourdes Poyatos, Alfredo Fabrizio Lo Faro, Diletta Berardinelli, Giorgia Sprega, Sara Malaca, Simona Pichini, Marilyn A. Huestis, Esther Papaseit, Clara Pérez-Mañá, Francesco Paolo Busardò, Magí Farré Nov 2022

Methylone And Mdma Pharmacokinetics Following Controlled Administration In Humans, Lourdes Poyatos, Alfredo Fabrizio Lo Faro, Diletta Berardinelli, Giorgia Sprega, Sara Malaca, Simona Pichini, Marilyn A. Huestis, Esther Papaseit, Clara Pérez-Mañá, Francesco Paolo Busardò, Magí Farré

Institute of Emerging Health Professions Faculty Papers

The aim of this study is to define, for the first time, human methylone and HMMC plasma pharmacokinetics following controlled administration of 50–200 mg methylone to 12 male volunteers. A new LC-MS/MS method was validated to quantify methylone, MDMA, and their metabolites in plasma. The study was a randomized, cross-over, double-blinded and placebo-controlled study, with a total of 468 plasma samples collected. First, 10 µL of MDMA-d5, MDA-d5 and methylone-d3 internal standards were added to 100 µL of plasma. Two mL of chloroform and ethyl acetate 9:1 (v/v) were then added, mixed well and centrifuged. The supernatant was fortified with …


Human Dectin-1 Deficiency Impairs Macrophage-Mediated Defense Against Phaeohyphomycosis, Rebecca A. Drummond, Jigar V. Desai, Amy P. Hsu, Vasileios Oikonomou, Donald C. Vinh, Joshua A. Acklin, Michael S. Abers, Magdalena A. Walkiewicz, Sarah L. Anzick, Muthulekha Swamydas, Simon Vautier, Mukil Natarajan, Andrew J. Oler, Daisuke Yamanaka, Katrin D. Mayer-Barber, Yoichiro Iwakura, David Bianchi, Brian Driscoll, Ken Hauck, Ahnika Kline, Nicholas S.P. Viall, Christa S. Zerbe, Elise M.N. Ferré, Monica M. Schmitt, Tom Dimaggio, Stefania Pittaluga, John A. Butman, Adrian M. Zelazny, Yvonne R. Shea, Cesar A. Arias, Cameron Ashbaugh, Maryam Mahmood, Zelalem Temesgen, Alexander G. Theofiles, Masayuki Nigo, Varsha Moudgal, Karen C. Bloch, Sean G. Kelly, M. Suzanne Whitworth, Ganesh Rao, Cindy J. Whitener, Neema Mafi, Juan Gea-Banacloche, Lawrence C. Kenyon, William R. Miller, Katia Boggian, Andrea Gilbert, Matthew Sincock, Alexandra F. Freeman, John E. Bennett, Rodrigo Hasbun, Constantinos M. Mikelis, Kyung J. Kwon-Chung, Yasmine Belkaid, Gordon D. Brown, Jean K. Lim, Douglas B. Kuhns, Steven M. Holland, Michail S. Lionakis Nov 2022

Human Dectin-1 Deficiency Impairs Macrophage-Mediated Defense Against Phaeohyphomycosis, Rebecca A. Drummond, Jigar V. Desai, Amy P. Hsu, Vasileios Oikonomou, Donald C. Vinh, Joshua A. Acklin, Michael S. Abers, Magdalena A. Walkiewicz, Sarah L. Anzick, Muthulekha Swamydas, Simon Vautier, Mukil Natarajan, Andrew J. Oler, Daisuke Yamanaka, Katrin D. Mayer-Barber, Yoichiro Iwakura, David Bianchi, Brian Driscoll, Ken Hauck, Ahnika Kline, Nicholas S.P. Viall, Christa S. Zerbe, Elise M.N. Ferré, Monica M. Schmitt, Tom Dimaggio, Stefania Pittaluga, John A. Butman, Adrian M. Zelazny, Yvonne R. Shea, Cesar A. Arias, Cameron Ashbaugh, Maryam Mahmood, Zelalem Temesgen, Alexander G. Theofiles, Masayuki Nigo, Varsha Moudgal, Karen C. Bloch, Sean G. Kelly, M. Suzanne Whitworth, Ganesh Rao, Cindy J. Whitener, Neema Mafi, Juan Gea-Banacloche, Lawrence C. Kenyon, William R. Miller, Katia Boggian, Andrea Gilbert, Matthew Sincock, Alexandra F. Freeman, John E. Bennett, Rodrigo Hasbun, Constantinos M. Mikelis, Kyung J. Kwon-Chung, Yasmine Belkaid, Gordon D. Brown, Jean K. Lim, Douglas B. Kuhns, Steven M. Holland, Michail S. Lionakis

Department of Pathology, Anatomy, and Cell Biology Faculty Papers

Subcutaneous phaeohyphomycosis typically affects immunocompetent individuals following traumatic inoculation. Severe or disseminated infection can occur in CARD9 deficiency or after transplantation, but the mechanisms protecting against phaeohyphomycosis remain unclear. We evaluated a patient with progressive, refractory Corynespora cassiicola phaeohyphomycosis and found that he carried biallelic deleterious mutations in CLEC7A encoding the CARD9-coupled, β-glucan-binding receptor, Dectin-1. The patient's PBMCs failed to produce TNF-α and IL-1β in response to β-glucan and/or C. cassiicola. To confirm the cellular and molecular requirements for immunity against C. cassiicola, we developed a mouse model of this infection. Mouse macrophages required Dectin-1 and CARD9 for IL-1β and …


The Nogo Receptor Ngr2, A Novel Αvβ3 Integrin Effector, Induces Neuroendocrine Differentiation In Prostate Cancer, Fabio Quaglia, Shiv Ram Krishn, Khalid Sossey-Alaoui, Priyanka Shailendra Rana, Elzbieta Pluskota, Pyung Hun Park, Christopher D. Shields, Stephen Lin, Peter Mccue, Andrew V. Kossenkov, Yanqing Wang, David W. Goodrich, Sheng-Yu Ku, Himisha Beltran, William K. Kelly, Eva Corey, Maja Klose, Christine Bandtlow, Qin Liu, Dario C. Altieri, Edward F. Plow, Lucia R. Languino Nov 2022

The Nogo Receptor Ngr2, A Novel Αvβ3 Integrin Effector, Induces Neuroendocrine Differentiation In Prostate Cancer, Fabio Quaglia, Shiv Ram Krishn, Khalid Sossey-Alaoui, Priyanka Shailendra Rana, Elzbieta Pluskota, Pyung Hun Park, Christopher D. Shields, Stephen Lin, Peter Mccue, Andrew V. Kossenkov, Yanqing Wang, David W. Goodrich, Sheng-Yu Ku, Himisha Beltran, William K. Kelly, Eva Corey, Maja Klose, Christine Bandtlow, Qin Liu, Dario C. Altieri, Edward F. Plow, Lucia R. Languino

Department of Cancer Biology Faculty Papers

Androgen deprivation therapies aimed to target prostate cancer (PrCa) are only partially successful given the occurrence of neuroendocrine PrCa (NEPrCa), a highly aggressive and highly metastatic form of PrCa, for which there is no effective therapeutic approach. Our group has demonstrated that while absent in prostate adenocarcinoma, the αVβ3 integrin expression is increased during PrCa progression toward NEPrCa. Here, we show a novel pathway activated by αVβ3 that promotes NE differentiation (NED). This novel pathway requires the expression of a GPI-linked surface molecule, NgR2, also known as Nogo-66 receptor homolog 1. We show here that NgR2 is upregulated by αVβ3, …


Injury To The Posterior Horn Of The Lateral Meniscus From A Misplaced Tibial Tunnel For Anterior Cruciate Ligament Reconstruction: A Case Report, Amar S Vadhera, Jonathan S Lee, Harsh Singh, Safa Gursoy, Kyle N Kunze, Nikhil N Verma, Jorge Chahla Nov 2022

Injury To The Posterior Horn Of The Lateral Meniscus From A Misplaced Tibial Tunnel For Anterior Cruciate Ligament Reconstruction: A Case Report, Amar S Vadhera, Jonathan S Lee, Harsh Singh, Safa Gursoy, Kyle N Kunze, Nikhil N Verma, Jorge Chahla

Department of Orthopaedic Surgery Faculty Papers

BACKGROUND Posterior meniscal root avulsions can cause meniscal extrusion, joint space narrowing, and progressive knee arthritis. Iatrogenic posterior meniscal root avulsions after malpositioning of the transtibial tunnels during anterior cruciate ligament (ACL) reconstruction can account for poor long-term outcomes seen in some patients following ACL reconstruction. Therefore, correct transtibial tunnel placement during ACL reconstruction is essential to avoid iatrogenic meniscal damage. CASE REPORT A 32-year-old man presented with 1 year of right knee pain and instability following a non-contact twisting injury sustained while playing soccer. An ACL tear with no meniscal involvement was diagnosed at an outside institution. A double-bundle …


Association Of Noncontrast Computed Tomography And Perfusion Modalities With Outcomes In Patients Undergoing Late-Window Stroke Thrombectomy, Guilherme B F Porto, Ching-Jen Chen, Sami Al Kasab, Muhammed Amir Essibayi, Eyad Almallouhi, Zachary Hubbard, Reda Chalhoub, Ali Alawieh, Ilko Maier, Marios-Nikos Psychogios, Stacey Q Wolfe, Pascal Jabbour, Ansaar Rai, Robert M Starke, Amir Shaban, Adam Arthur, Joon-Tae Kim, Shinichi Yoshimura, Jonathan Grossberg, Peter Kan, Isabel Fragata, Adam Polifka, Joshua Osbun, Justin Mascitelli, Michael R Levitt, Richard Williamson, Daniele G Romano, Roberto Crosa, Benjamin Gory, Maxim Mokin, Kaustubh S Limaye, Walter Casagrande, Mark Moss, Ramesh Grandhi, Albert Yoo, Alejandro M Spiotta, Min S Park Nov 2022

Association Of Noncontrast Computed Tomography And Perfusion Modalities With Outcomes In Patients Undergoing Late-Window Stroke Thrombectomy, Guilherme B F Porto, Ching-Jen Chen, Sami Al Kasab, Muhammed Amir Essibayi, Eyad Almallouhi, Zachary Hubbard, Reda Chalhoub, Ali Alawieh, Ilko Maier, Marios-Nikos Psychogios, Stacey Q Wolfe, Pascal Jabbour, Ansaar Rai, Robert M Starke, Amir Shaban, Adam Arthur, Joon-Tae Kim, Shinichi Yoshimura, Jonathan Grossberg, Peter Kan, Isabel Fragata, Adam Polifka, Joshua Osbun, Justin Mascitelli, Michael R Levitt, Richard Williamson, Daniele G Romano, Roberto Crosa, Benjamin Gory, Maxim Mokin, Kaustubh S Limaye, Walter Casagrande, Mark Moss, Ramesh Grandhi, Albert Yoo, Alejandro M Spiotta, Min S Park

Department of Neurosurgery Faculty Papers

Importance: There is substantial controversy with regards to the adequacy and use of noncontrast head computed tomography (NCCT) for late-window acute ischemic stroke in selecting candidates for mechanical thrombectomy.

Objective: To assess clinical outcomes of patients with acute ischemic stroke presenting in the late window who underwent mechanical thrombectomy stratified by NCCT admission in comparison with selection by CT perfusion (CTP) and diffusion-weighted imaging (DWI).

Design, setting, and participants: In this multicenter retrospective cohort study, prospectively maintained Stroke Thrombectomy and Aneurysm (STAR) database was used by selecting patients within the late window of acute ischemic stroke and emergent large vessel …


Genetic Testing To Inform Epilepsy Treatment Management From An International Study Of Clinical Practice, Dianalee Mcknight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Michael Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos-Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman-Englert, Rebecca J. Levy, Venu G. Parachuri, Guillermo Lay-Son, David J. Dávila-Ortiz De Montellano, Miguel Angel Ramirez-Garcia, Edmar O. Benítez Alonso, Julie Ziobro, Adela Chirita-Emandi, Temis M. Felix, Dianne Kulasa-Luke, Andre Megarbane, Shefali Karkare, Sarah L. Chagnon, Jennifer B. Humberson, Melissa J. Assaf, Sebastian Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean T. Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Y. Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, Oleksandr Miroshnikov, Britton Zuccarelli, Louise Amlie-Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy-Santoyo, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan S. Candee, Caleb P. Bupp, Kristen L. Park, Eric Muller, Pamela Lupo, Robert C. Pedersen, Amir M. Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa A. Kellogg, Evelyn G. Lora, Robert P. Carson, Victoria Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, Tetiana Stetsenko, Milagros M. Dueñas-Roque, Joseph Trasmonte, Rebecca J. Burke, Anna C. E. Hurst, Douglas M. Smith, Lauren J. Massingham, Laura Pisani, Carrie E. Costin, Betsy Ostrander, Francis M. Filloux, Amitha L. Ananth, Ismail S. Mohamed, Alla Nechai, Jasmin M. Dao, Michael C. Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha, Bailey Meibos, Kristen Wong, Matthew T. Sweney, A. Chris Espinoza, Colin B. Van Orman, Arie Weinstock, Ashutosh Kumar, Claudia Soler-Alfonso, Danielle A. Nolan, Muhammad Raza, Miguel David Rojas Carrion, Geetha Chari, Eric D. Marsh, Yael Shiloh-Malawsky, Sumit Parikh, Ernesto Gonzalez-Giraldo, Stephen Fulton, Yoshimi Sogawa, Kaitlyn Burns, Myroslava Malets, Johnny David Montiel Blanco, Christa W. Habela, Carey A. Wilson, Guillermo G. Guzmán, Mariia Pavliuk Oct 2022

Genetic Testing To Inform Epilepsy Treatment Management From An International Study Of Clinical Practice, Dianalee Mcknight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Michael Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos-Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman-Englert, Rebecca J. Levy, Venu G. Parachuri, Guillermo Lay-Son, David J. Dávila-Ortiz De Montellano, Miguel Angel Ramirez-Garcia, Edmar O. Benítez Alonso, Julie Ziobro, Adela Chirita-Emandi, Temis M. Felix, Dianne Kulasa-Luke, Andre Megarbane, Shefali Karkare, Sarah L. Chagnon, Jennifer B. Humberson, Melissa J. Assaf, Sebastian Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean T. Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Y. Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, Oleksandr Miroshnikov, Britton Zuccarelli, Louise Amlie-Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy-Santoyo, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan S. Candee, Caleb P. Bupp, Kristen L. Park, Eric Muller, Pamela Lupo, Robert C. Pedersen, Amir M. Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa A. Kellogg, Evelyn G. Lora, Robert P. Carson, Victoria Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, Tetiana Stetsenko, Milagros M. Dueñas-Roque, Joseph Trasmonte, Rebecca J. Burke, Anna C. E. Hurst, Douglas M. Smith, Lauren J. Massingham, Laura Pisani, Carrie E. Costin, Betsy Ostrander, Francis M. Filloux, Amitha L. Ananth, Ismail S. Mohamed, Alla Nechai, Jasmin M. Dao, Michael C. Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha, Bailey Meibos, Kristen Wong, Matthew T. Sweney, A. Chris Espinoza, Colin B. Van Orman, Arie Weinstock, Ashutosh Kumar, Claudia Soler-Alfonso, Danielle A. Nolan, Muhammad Raza, Miguel David Rojas Carrion, Geetha Chari, Eric D. Marsh, Yael Shiloh-Malawsky, Sumit Parikh, Ernesto Gonzalez-Giraldo, Stephen Fulton, Yoshimi Sogawa, Kaitlyn Burns, Myroslava Malets, Johnny David Montiel Blanco, Christa W. Habela, Carey A. Wilson, Guillermo G. Guzmán, Mariia Pavliuk

Department of Pediatrics Faculty Papers

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.

OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.

DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a …


Sex Difference Leads To Differential Gene Expression Patterns And Therapeutic Efficacy In Mucopolysaccharidosis Iva Murine Model Receiving Aav8 Gene Therapy, Matthew Matthew Piechnik, Paige C. Amendum, Kazuki Sawamoto, Molly Stapleton, Shaukat Khan, Nidhi Fnu, Victor Álvarez, Angelica Maria Herreño Pachon, Olivier Danos, Joseph T. Bruder, Subha Karumuthil-Melethil, Shunji Tomatsu Oct 2022

Sex Difference Leads To Differential Gene Expression Patterns And Therapeutic Efficacy In Mucopolysaccharidosis Iva Murine Model Receiving Aav8 Gene Therapy, Matthew Matthew Piechnik, Paige C. Amendum, Kazuki Sawamoto, Molly Stapleton, Shaukat Khan, Nidhi Fnu, Victor Álvarez, Angelica Maria Herreño Pachon, Olivier Danos, Joseph T. Bruder, Subha Karumuthil-Melethil, Shunji Tomatsu

Student Papers, Posters & Projects

Adeno-associated virus (AAV) vector-based therapies can effectively correct some disease pathology in murine models with mucopolysaccharidoses. However, immunogenicity can limit therapeutic effect as immune responses target capsid proteins, transduced cells, and gene therapy products, ultimately resulting in loss of enzyme activity. Inherent differences in male versus female immune response can significantly impact AAV gene transfer. We aim to investigate sex differences in the immune response to AAV gene therapies in mice with mucopolysaccharidosis IVA (MPS IVA). MPS IVA mice, treated with different AAV vectors expressing human N-acetylgalactosamine 6-sulfate sulfatase (GALNS), demonstrated a more robust antibody response in female mice resulting …


Sex-Specific Considerations In Degenerative Aortic Stenosis For Female-Tailored Transfemoral Aortic Valve Implantation Management, Giulia Masiero, Valeria Paradies, Anna Franzone, Barbara Bellini, Chiara De Biase, Nicole Karam, Francesca Sanguineti, Mamas A Mamas, Hélène Eltchaninoff, Chiara Fraccaro, Battistina Castiglioni, Tiziana Attisano, Giovanni Esposito, Alaide Chieffo Oct 2022

Sex-Specific Considerations In Degenerative Aortic Stenosis For Female-Tailored Transfemoral Aortic Valve Implantation Management, Giulia Masiero, Valeria Paradies, Anna Franzone, Barbara Bellini, Chiara De Biase, Nicole Karam, Francesca Sanguineti, Mamas A Mamas, Hélène Eltchaninoff, Chiara Fraccaro, Battistina Castiglioni, Tiziana Attisano, Giovanni Esposito, Alaide Chieffo

Department of Medicine Faculty Papers

The impact of sex on pathophysiological processes, clinical presentation, treatment options, as well as outcomes of degenerative aortic stenosis remain poorly understood. Female patients are well represented in transfemoral aortic valve implantation (TAVI) trials and appear to derive favorable outcomes with TAVI. However, higher incidences of major bleeding, vascular complications, and stroke have been reported in women following TAVI. The anatomical characteristics and pathophysiological features of aortic stenosis in women might guide a tailored planning of the percutaneous approach. We highlight whether a sex-based TAVI management strategy might impact on clinical outcomes. This review aimed to evaluate the impact of …


Differential Patterns And Outcomes Of 20.6 Million Cardiovascular Emergency Department Encounters For Men And Women In The United States., Zahra Raisi-Estabragh, Ofer Kobo, Ayman Elbadawi, Poonam Velagapudi, Garima Sharma, Renee P Bullock-Palmer, Steffen E Petersen, Laxmi S Mehta, Waqas Ullah, Ariel Roguin, Louise Y Sun, Mamas A Mamas Oct 2022

Differential Patterns And Outcomes Of 20.6 Million Cardiovascular Emergency Department Encounters For Men And Women In The United States., Zahra Raisi-Estabragh, Ofer Kobo, Ayman Elbadawi, Poonam Velagapudi, Garima Sharma, Renee P Bullock-Palmer, Steffen E Petersen, Laxmi S Mehta, Waqas Ullah, Ariel Roguin, Louise Y Sun, Mamas A Mamas

Division of Cardiology Faculty Papers

Background We describe sex-differential disease patterns and outcomes of >20.6 million cardiovascular emergency department encounters in the United States. Methods and Results We analyzed primary cardiovascular encounters from the Nationwide Emergency Department Sample between 2016 and 2018. We grouped cardiovascular diagnoses into 15 disease categories. The sample included 48.7% women; median age was 67 (interquartile range, 54-78) years. Men had greater overall baseline comorbidity burden; however, women had higher rates of obesity, hypertension, and cerebrovascular disease. For women, the most common emergency department encounters were essential hypertension (16.0%), hypertensive heart or kidney disease (14.1%), and atrial fibrillation/flutter (10.2%). For men, …


Genomic Testing In Localized Prostate Cancer Can Identify Subsets Of African Americans With Aggressive Disease, Shivanshu Awasthi, G. Daniel Grass, Javier Torres-Roca, Peter A. S. Johnstone, Julio Pow-Sang, Jasreman Dhillon, Jong Park, Robert J. Rounbehler, Elai Davicioni, Alex Hakansson, Yang Liu, Angelina K. Fink, Amanda Derenzis, Jordan H. Creed, Michael Poch, Roger Li, Brandon Manley, Daniel Fernandez, Arash Naghavi, Kenneth Gage, Grace Lu-Yao, Evangelia Katsoulakis, Ryan J. Burri, Andrew Leone, Cesar E. Ercole, Joshua D. Palmer, Neha Vapiwala, Curtiland Deville, Timothy R. Rebbeck, Adam P. Dicker, William Kelly, Kosj Yamoah Sep 2022

Genomic Testing In Localized Prostate Cancer Can Identify Subsets Of African Americans With Aggressive Disease, Shivanshu Awasthi, G. Daniel Grass, Javier Torres-Roca, Peter A. S. Johnstone, Julio Pow-Sang, Jasreman Dhillon, Jong Park, Robert J. Rounbehler, Elai Davicioni, Alex Hakansson, Yang Liu, Angelina K. Fink, Amanda Derenzis, Jordan H. Creed, Michael Poch, Roger Li, Brandon Manley, Daniel Fernandez, Arash Naghavi, Kenneth Gage, Grace Lu-Yao, Evangelia Katsoulakis, Ryan J. Burri, Andrew Leone, Cesar E. Ercole, Joshua D. Palmer, Neha Vapiwala, Curtiland Deville, Timothy R. Rebbeck, Adam P. Dicker, William Kelly, Kosj Yamoah

Department of Medical Oncology Faculty Papers

BACKGROUND: Personalized genomic classifiers have transformed the management of prostate cancer (PCa) by identifying the most aggressive subsets of PCa. Nevertheless, the performance of genomic classifiers to risk classify African American men is thus far lacking in a prospective setting.

METHODS: This is a prospective study of the Decipher genomic classifier for National Comprehensive Cancer Network low- and intermediate-risk PCa. Study-eligible non-African American men were matched to African American men. Diagnostic biopsy specimens were processed to estimate Decipher scores. Samples accrued in NCT02723734, a prospective study, were interrogated to determine the genomic risk of reclassification (GrR) between conventional clinical risk …


A Scoping Review Protocol To Elucidate Outcomes Following Abiraterone Versus Enzalutamide For Prostate Cancer, Yash B Shah, Amy L Shaver, William Kevin Kelly, Grace Lu-Yao Aug 2022

A Scoping Review Protocol To Elucidate Outcomes Following Abiraterone Versus Enzalutamide For Prostate Cancer, Yash B Shah, Amy L Shaver, William Kevin Kelly, Grace Lu-Yao

Department of Medical Oncology Faculty Papers

INTRODUCTION: Abiraterone acetate and enzalutamide are commonly employed in prostate cancer therapy in an interchangeable manner. These drugs are highly efficacious in androgen antagonism to improve patient outcomes, but they also carry noteworthy risk of adverse effects. Common toxicities vary amongst the two drugs and may have differential interactions with patient co-morbidities, but these patterns are unclear as co-morbidities typically serve as exclusion criteria in clinical trials. Hence, there is no existing guidance on how clinicians may tailor treatment based on patient-specific factors. Analysis of differential patient outcomes between these two drugs can inform future systematic reviews, new clinical studies, …


Serious Hazards Of Transfusion: Evaluating The Dangers Of A Wrong Patient Autologous Salvaged Blood In Cardiac Surgery., Masashi Uramatsu, Hideyuki Maeda, Shiro Mishima, Megumi Takahashi, Jun Wada, Kagehiro Amano, Paul Barach, Tamotsu Miki Aug 2022

Serious Hazards Of Transfusion: Evaluating The Dangers Of A Wrong Patient Autologous Salvaged Blood In Cardiac Surgery., Masashi Uramatsu, Hideyuki Maeda, Shiro Mishima, Megumi Takahashi, Jun Wada, Kagehiro Amano, Paul Barach, Tamotsu Miki

College of Population Health Faculty Papers

BACKGROUND: The past half century has seen the near eradication of transfusion-associated hazards. Intraoperative cell salvage while widely used still poses significant risks and hazards due to human error. We report on a case in which blood collected from a patient with lung cancer was mistakenly administered to a patient undergoing cardiac surgery who should have received his own collected blood. The initial investigation found that the cause of the patient harm was violations of procedures by hospital personnel. A detailed investigation revealed that not only violations were the cause, but also that the underlying causes included haphazard organizational policies, …


Experiences With Menses In Transgender And Gender Nonbinary Adolescents., Beth I. Schwartz, Arielle Effron, Benjamin Bear, Vanessa L Short, Julia Eisenberg, Sarah Felleman, Anne E Kazak Aug 2022

Experiences With Menses In Transgender And Gender Nonbinary Adolescents., Beth I. Schwartz, Arielle Effron, Benjamin Bear, Vanessa L Short, Julia Eisenberg, Sarah Felleman, Anne E Kazak

Department of Obstetrics and Gynecology Faculty Papers

STUDY OBJECTIVE: To describe menstrual history, associated dysphoria, and desire for menstrual management in transgender male and gender diverse adolescents who were assigned female at birth

DESIGN: Retrospective chart review

SETTING: Tertiary care children's hospital

PARTICIPANTS: All patients seen in a multidisciplinary pediatric gender program from March 2015 through December 2020 who were assigned female at birth, identified as transgender male or gender nonbinary, and had achieved menarche

INTERVENTION: None

MAIN OUTCOME MEASURES: Patient demographics, menstrual history, interest in and prior experiences with menstrual management, parental support, and concerns about menstrual management

RESULTS: Of the 129 included patients, 116 (90%) …


Understanding The Role Of Sex On Outcomes For The Cancer Patient Undergoing Treatment With Immune Checkpoint Inhibitors: A Scoping Review Protocol, Amy L Shaver, Nikita Nikita, Swapnil Sharma, Daniel S Lefler, Atrayee Basu-Mallick, Jennifer M Johnson, Meghan L Butryn, Grace Lu-Yao Jul 2022

Understanding The Role Of Sex On Outcomes For The Cancer Patient Undergoing Treatment With Immune Checkpoint Inhibitors: A Scoping Review Protocol, Amy L Shaver, Nikita Nikita, Swapnil Sharma, Daniel S Lefler, Atrayee Basu-Mallick, Jennifer M Johnson, Meghan L Butryn, Grace Lu-Yao

Department of Medical Oncology Faculty Papers

INTRODUCTION: Immune checkpoint inhibitors (ICIs) have changed the treatment landscape for multiple cancer types. Sex plays an important role in both the development of cancer as well as the functioning of the immune system. Though a difference in response to immune therapy is emerging between men and women it is unclear how this difference affects cancer outcomes and what the potential underlying mechanisms are for those effects. The objective of this study is to describe the influence that sex has on the outcomes experienced by cancer patients on ICI therapy and to identify and analyse any knowledge gaps in the …


Socioeconomic Status And Gastric Cancer Surgical Outcomes: A National Cancer Database Study., Ryan Lamm, D Brock Hewitt, Michael Li, Adam C Powell, Adam C Berger Jul 2022

Socioeconomic Status And Gastric Cancer Surgical Outcomes: A National Cancer Database Study., Ryan Lamm, D Brock Hewitt, Michael Li, Adam C Powell, Adam C Berger

Department of Surgery Faculty Papers

INTRODUCTION: Gastric cancer (GC) is the third leading cause of cancer-related death worldwide. Surgical resection is the gold standard of treatment. In the United States, race and socioeconomic status are associated with the diagnosis of GC; however, no studies have examined these as independent risk factors for surgical outcomes. Our study sought to investigate socioeconomic factors and GC surgical outcomes using a national cancer registry.

METHODS: GC patients between 2004 and 2016 were identified using the National Cancer Database. Univariate and multivariate logistic regression was used to analyze associations between socioeconomic factors and 30-d mortality, 90-d mortality, and unplanned readmission …


The Overestimation Of Concentric Hypertrophy In Patients With Hfpef As Determined By 2d-Echocardiography, Mohammad F. Mathbout, Hussam Al Hennawi, Anwar Khedr, Gaurang N. Vaidya, Marcus Stoddard Jun 2022

The Overestimation Of Concentric Hypertrophy In Patients With Hfpef As Determined By 2d-Echocardiography, Mohammad F. Mathbout, Hussam Al Hennawi, Anwar Khedr, Gaurang N. Vaidya, Marcus Stoddard

Division of Internal Medicine Faculty Papers & Presentations

Background: Heart failure with preserved ejection fraction continues to pose multiple challenges in terms of accurate diagnosis, treatment, and associated morbidity. Accurate left ventricular (LV) mass calculation yields essential prognostic information relating to structural heart disease. Two-dimensional (2D) echocardiography-based calculations are solely limited to LV geometric assumptions of symmetry, whereas three-dimensional (3D) echocardiography could overcome these limitations. This study aims to compare the performance of 2D and 3D LV mass calculations. Methods: A prospective review of echocardiography findings at the University of Louisville, Kentucky, was conducted and assessed. Normal ejection fraction (EF) was defined as >=52% in males and >=54% …


Effect Of Musculature On Mortality, A Retrospective Cohort Study, Amy L Shaver, Mary E Platek, Anurag K Singh, Sung Jun Ma, Mark Farrugia, Gregory Wilding, Andrew D Ray, Heather M Ochs-Balcom, Katia Noyes Jun 2022

Effect Of Musculature On Mortality, A Retrospective Cohort Study, Amy L Shaver, Mary E Platek, Anurag K Singh, Sung Jun Ma, Mark Farrugia, Gregory Wilding, Andrew D Ray, Heather M Ochs-Balcom, Katia Noyes

Department of Medical Oncology Faculty Papers

Background: While often life-saving, treatment for head and neck cancer (HNC) can be debilitating resulting in unplanned hospitalization. Hospitalizations in cancer patients may disrupt treatment and result in poor outcomes. Pre-treatment muscle quality and quantity ascertained through diagnostic imaging may help identify patients at high risk of poor outcomes early. The primary objective of this study was to determine if pre-treatment musculature was associated with all-cause mortality.

Methods: Patient demographic and clinical characteristics were abstracted from the cancer center electronic database (n = 403). Musculature was ascertained from pre-treatment CT scans. Propensity score matching was utilized to adjust for confounding …


Early Short Course Of Neuromuscular Blocking Agents In Patients With Covid-19 Ards: A Propensity Score Analysis., Gianluigi Li Bassi, Kristen Gibbons, Jacky Y Suen, Heidi J Dalton, Nicole White, Amanda Corley, Sally Shrapnel, Samuel Hinton, Simon Forsyth, John G Laffey, Eddy Fan, Jonathon P Fanning, Mauro Panigada, Robert Bartlett, Daniel Brodie, Aidan Burrell, Davide Chiumello, Alyaa Elhazmi, Mariano Esperatti, Giacomo Grasselli, Carol Hodgson, Shingo Ichiba, Carlos Luna, Eva Marwali, Laura Merson, Srinivas Murthy, Alistair Nichol, Mark Ogino, Paolo Pelosi, Antoni Torres, Pauline Yeung Ng, John F Fraser May 2022

Early Short Course Of Neuromuscular Blocking Agents In Patients With Covid-19 Ards: A Propensity Score Analysis., Gianluigi Li Bassi, Kristen Gibbons, Jacky Y Suen, Heidi J Dalton, Nicole White, Amanda Corley, Sally Shrapnel, Samuel Hinton, Simon Forsyth, John G Laffey, Eddy Fan, Jonathon P Fanning, Mauro Panigada, Robert Bartlett, Daniel Brodie, Aidan Burrell, Davide Chiumello, Alyaa Elhazmi, Mariano Esperatti, Giacomo Grasselli, Carol Hodgson, Shingo Ichiba, Carlos Luna, Eva Marwali, Laura Merson, Srinivas Murthy, Alistair Nichol, Mark Ogino, Paolo Pelosi, Antoni Torres, Pauline Yeung Ng, John F Fraser

Department of Anesthesiology Faculty Papers

BACKGROUND: The role of neuromuscular blocking agents (NMBAs) in coronavirus disease 2019 (COVID-19) acute respiratory distress syndrome (ARDS) is not fully elucidated. Therefore, we aimed to investigate in COVID-19 patients with moderate-to-severe ARDS the impact of early use of NMBAs on 90-day mortality, through propensity score (PS) matching analysis.

METHODS: We analyzed a convenience sample of patients with COVID-19 and moderate-to-severe ARDS, admitted to 244 intensive care units within the COVID-19 Critical Care Consortium, from February 1, 2020, through October 31, 2021. Patients undergoing at least 2 days and up to 3 consecutive days of NMBAs (NMBA treatment), within 48 …


Diagnostic Accuracy Of Macular Thickness Map And Texture En Face Images For Detecting Glaucoma In Eyes With Axial High Myopia, Christopher Bowd, Akram Belghith, Jasmin Rezapour, Mark Christopher, Leslie Hyman, Jost B Jonas, Robert N Weinreb, Linda M Zangwill May 2022

Diagnostic Accuracy Of Macular Thickness Map And Texture En Face Images For Detecting Glaucoma In Eyes With Axial High Myopia, Christopher Bowd, Akram Belghith, Jasmin Rezapour, Mark Christopher, Leslie Hyman, Jost B Jonas, Robert N Weinreb, Linda M Zangwill

Wills Eye Hospital Papers

Purpose: To evaluate the diagnostic accuracy of a novel optical coherence tomography texture-based en face image analysis (SALSA-Texture) that requires segmentation of only 1 retinal layer for glaucoma detection in eyes with axial high myopia, and to compare SALSA-Texture with standard macular ganglion cell-inner plexiform layer (GCIPL) thickness, macular retinal nerve fiber layer (mRNFL) thickness, and ganglion cell complex (GCC) thickness maps.

Design: Comparison of diagnostic approaches.

Methods: Cross-sectional data were collected from 92 eyes with primary open-angle glaucoma (POAG) and 44 healthy control eyes with axial high myopia (axial length >26 mm). Optical coherence tomography texture en face images, …


Peripheral Neuropathy Evaluations Of Patients With Prolonged Long Covid., Anne Louise Oaklander, Alexander J Mills, Mary Kelley, Lisa S Toran, Bryan Smith, Marinos Dalakas, Avindra Nath May 2022

Peripheral Neuropathy Evaluations Of Patients With Prolonged Long Covid., Anne Louise Oaklander, Alexander J Mills, Mary Kelley, Lisa S Toran, Bryan Smith, Marinos Dalakas, Avindra Nath

Department of Neurology Faculty Papers

Background and objectives: Recovery from severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection appears exponential, leaving a tail of patients reporting various long COVID symptoms including unexplained fatigue/exertional intolerance and dysautonomic and sensory concerns. Indirect evidence links long COVID to incident polyneuropathy affecting the small-fiber (sensory/autonomic) axons.

Methods: We analyzed cross-sectional and longitudinal data from patients with World Health Organization (WHO)-defined long COVID without prior neuropathy history or risks who were referred for peripheral neuropathy evaluations. We captured standardized symptoms, examinations, objective neurodiagnostic test results, and outcomes, tracking participants for 1.4 years on average.

Results: Among 17 patients (mean age …


Genetic Evaluation For Hereditary Cancer Syndromes Among African Americans: A Critical Review, Ambreen Khan, Charles R Rogers, Carson D Kennedy, Ana Maria Lopez, Joanne Jeter Apr 2022

Genetic Evaluation For Hereditary Cancer Syndromes Among African Americans: A Critical Review, Ambreen Khan, Charles R Rogers, Carson D Kennedy, Ana Maria Lopez, Joanne Jeter

Department of Medical Oncology Faculty Papers

While hereditary cancer syndromes have been described and studied for centuries, the completion of the human genome project fueled accelerated progress in precision medicine due to the introduction of genetic testing in the 1990s, creating avenues for tailored treatments and medical management options. However, genetic testing has not benefited everyone equitably, with nearly all of the published work based on individuals of non-Hispanic White/European ancestry. There remains a gap in knowledge regarding the prevalence, penetrance, and manifestations of common hereditary cancer syndromes in the African-American population due to significant disparities in access and uptake of genetic testing. This review summarizes …


A Mouse Model With Widespread Expression Of The C9orf72-Linked Glycine-Arginine Dipeptide Displays Non-Lethal Als/Ftd-Like Phenotypes, Brandie Morris Verdone, Maria Elena Cicardi, Xinmei Wen, Sindhu Sriramoji, Katelyn Russell, Shashirekha S Markandaiah, Brigid K Jensen, Karthik Krishnamurthy, Aaron R. Haeusler, Piera Pasinelli, Davide Trotti Apr 2022

A Mouse Model With Widespread Expression Of The C9orf72-Linked Glycine-Arginine Dipeptide Displays Non-Lethal Als/Ftd-Like Phenotypes, Brandie Morris Verdone, Maria Elena Cicardi, Xinmei Wen, Sindhu Sriramoji, Katelyn Russell, Shashirekha S Markandaiah, Brigid K Jensen, Karthik Krishnamurthy, Aaron R. Haeusler, Piera Pasinelli, Davide Trotti

Department of Neuroscience Faculty Papers

Translation of the hexanucleotide G4C2 expansion associated with C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD) produces five different dipeptide repeat protein (DPR) species that can confer toxicity. There is yet much to learn about the contribution of a single DPR to disease pathogenesis. We show here that a short repeat length is sufficient for the DPR poly-GR to confer neurotoxicity in vitro, a phenomenon previously unobserved. This toxicity is also reported in vivo in our novel knock-in mouse model characterized by widespread central nervous system (CNS) expression of the short-length poly-GR. We observe sex-specific chronic ALS/FTD-like phenotypes in these …


The Effect Of Scan And Patient Parameters On The Diagnostic Performance Of Ai For Detecting Coronary Stenosis On Coronary Ct Angiography, Rebecca Jonas, Emil Barkovich, Andrew D Choi, William F Griffin, Joanna Riess, Hugo Marques, Hyuk-Jae Chang, Jung Hyun Choi, Joon-Hyung Doh, Ae-Young Her, Bon-Kwon Koo, Chang-Wook Nam, Hyung-Bok Park, Sang-Hoon Shin, Jason Cole, Alessia Gimelli, Muhammad Akram Khan, Bin Lu, Yang Gao, Faisal Nabi, Ryo Nakazato, U Joseph Schoepf, Roel S Driessen, Michiel J Bom, Randall C Thompson, James J Jang, Michael Ridner, Chris Rowan, Erick Avelar, Philippe Généreux, Paul Knaapen, Guus A De Waard, Gianluca Pontone, Daniele Andreini, Marco Guglielmo, Mouaz H Al-Mallah, Robert S Jennings, Tami R Crabtree, James P Earls Apr 2022

The Effect Of Scan And Patient Parameters On The Diagnostic Performance Of Ai For Detecting Coronary Stenosis On Coronary Ct Angiography, Rebecca Jonas, Emil Barkovich, Andrew D Choi, William F Griffin, Joanna Riess, Hugo Marques, Hyuk-Jae Chang, Jung Hyun Choi, Joon-Hyung Doh, Ae-Young Her, Bon-Kwon Koo, Chang-Wook Nam, Hyung-Bok Park, Sang-Hoon Shin, Jason Cole, Alessia Gimelli, Muhammad Akram Khan, Bin Lu, Yang Gao, Faisal Nabi, Ryo Nakazato, U Joseph Schoepf, Roel S Driessen, Michiel J Bom, Randall C Thompson, James J Jang, Michael Ridner, Chris Rowan, Erick Avelar, Philippe Généreux, Paul Knaapen, Guus A De Waard, Gianluca Pontone, Daniele Andreini, Marco Guglielmo, Mouaz H Al-Mallah, Robert S Jennings, Tami R Crabtree, James P Earls

Division of Internal Medicine Faculty Papers & Presentations

Objectives: To determine whether coronary computed tomography angiography (CCTA) scanning, scan preparation, contrast, and patient based parameters influence the diagnostic performance of an artificial intelligence (AI) based analysis software for identifying coronary lesions with ≥50% stenosis.

Background: CCTA is a noninvasive imaging modality that provides diagnostic and prognostic benefit to patients with coronary artery disease (CAD). The use of AI enabled quantitative CCTA (AI-QCT) analysis software enhances our diagnostic and prognostic ability, however, it is currently unclear whether software performance is influenced by CCTA scanning parameters.

Methods: CCTA and quantitative coronary CT (QCT) data from 303 stable patients (64 ± …


Parents' Reports Of Children's Physical And Sedentary Behavior Engagement Among Parents In Weight Management, Catherine Van Fossen, Haley Kiser, Callie Lambert Brown, Joseph Skelton, Keeley Jean Pratt Mar 2022

Parents' Reports Of Children's Physical And Sedentary Behavior Engagement Among Parents In Weight Management, Catherine Van Fossen, Haley Kiser, Callie Lambert Brown, Joseph Skelton, Keeley Jean Pratt

Department of Psychiatry and Human Behavior Faculty Papers

Background: The purpose of this study was to explore the associations between demographics, family exercise participation, family discouragement of exercise, and the children's physical and sedentary behaviors to identify specific areas of physical activity intervention for children with parents engaged in medical weight management (MWM).

Methods: Parents (n = 294) of children aged 2-18 years old were recruited from two university MWM programs to complete a one-time survey. Bivariate analyses tested associations.

Results: Parents reported that sedentary activity was higher for children who identified as racial minorities (t(141) = -2.05, p < 0.05). Mobile phone and tablet use was higher for adolescents compared to school age and young children (H(2) = 10.96, p < 01) Exercise game use was higher for racial minority children compared to white children (U = 9440.5, z = 2.47, p ≤ 0.03). Male children (t(284) = 1.83, p < 0.07), children perceived to have a healthy weight status (t(120) = 4.68, p < 0.00), and younger children (t(289) = 1.79, p < 0.08) all engaged in more strenuous physical activity. Family exercise participation (t(162) = -2.93, p < 0.01) and family discouragement of exercise (U = 7813.50, z = -2.06, p ≤ 0.04) were significantly higher for children in racial minority families.

Conclusions: Future work should determine methods to engage children …