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Pediatric Aki In The Real World: Changing Outcomes Through Education And Advocacy-A Report From The 26th Acute Disease Quality Initiative (Adqi) Consensus Conference, Theresa Mottes, Shina Menon, Andrea Conroy, Jennifer Jetton, Kristin Dolan, Ayse Akcan Arikan, Rajit K Basu, Stuart L Goldstein, Jordan M Symons, Rashid Alobaidi, David J Askenazi, Sean M Bagshaw, Matthew Barhight, Erin Barreto, Benan Bayrakci, O N Bignall Ray, Erica Bjornstad, Patrick Brophy, Jennifer Charlton, Rahul Chanchlani, Andrea L Conroy, Akash Deep, Prasad Devarajan, Dana Fuhrman, Katja M Gist, Stephen M Gorga, Jason H Greenberg, Denise Hasson, Emma Heydari, Arpana Iyengar, Catherine Krawczeski, Leslie Meigs, Catherine Morgan, Jolyn Morgan, Tara Neumayr, Zaccaria Ricci, David T Selewski, Danielle Soranno, Natalja Stanski, Michelle Starr, Scott M Sutherland, Jordan Symons, Marcelo Tavares, Molly Vega, Michael Zappitelli, Claudio Ronco, Ravindra L Mehta, John Kellum, Marlies Ostermann, Adqi 26 Workgroup Mar 2024

Pediatric Aki In The Real World: Changing Outcomes Through Education And Advocacy-A Report From The 26th Acute Disease Quality Initiative (Adqi) Consensus Conference, Theresa Mottes, Shina Menon, Andrea Conroy, Jennifer Jetton, Kristin Dolan, Ayse Akcan Arikan, Rajit K Basu, Stuart L Goldstein, Jordan M Symons, Rashid Alobaidi, David J Askenazi, Sean M Bagshaw, Matthew Barhight, Erin Barreto, Benan Bayrakci, O N Bignall Ray, Erica Bjornstad, Patrick Brophy, Jennifer Charlton, Rahul Chanchlani, Andrea L Conroy, Akash Deep, Prasad Devarajan, Dana Fuhrman, Katja M Gist, Stephen M Gorga, Jason H Greenberg, Denise Hasson, Emma Heydari, Arpana Iyengar, Catherine Krawczeski, Leslie Meigs, Catherine Morgan, Jolyn Morgan, Tara Neumayr, Zaccaria Ricci, David T Selewski, Danielle Soranno, Natalja Stanski, Michelle Starr, Scott M Sutherland, Jordan Symons, Marcelo Tavares, Molly Vega, Michael Zappitelli, Claudio Ronco, Ravindra L Mehta, John Kellum, Marlies Ostermann, Adqi 26 Workgroup

Faculty, Staff and Students Publications

BACKGROUND: Acute kidney injury (AKI) is independently associated with increased morbidity and mortality across the life course, yet care for AKI remains mostly supportive. Raising awareness of this life-threatening clinical syndrome through education and advocacy efforts is the key to improving patient outcomes. Here, we describe the unique roles education and advocacy play in the care of children with AKI, discuss the importance of customizing educational outreach efforts to individual groups and contexts, and highlight the opportunities created through innovations and partnerships to optimize lifelong health outcomes.

METHODS: During the 26th Acute Disease Quality Initiative (ADQI) consensus conference, a multidisciplinary …


Quantification And Visualization Of Cis-Regulatory Dynamics In Single-Cell Multi-Omics Data With Treasmo, Chaozhong Liu, Linhua Wang, Zhandong Liu Mar 2024

Quantification And Visualization Of Cis-Regulatory Dynamics In Single-Cell Multi-Omics Data With Treasmo, Chaozhong Liu, Linhua Wang, Zhandong Liu

Faculty, Staff and Students Publications

Recent advances in single-cell multi-omics technologies have provided unprecedented insights into regulatory processes. We introduce TREASMO, a versatile Python package designed to quantify and visualize transcriptional regulatory dynamics in single-cell multi-omics datasets. TREASMO has four modules, spanning data preparation, correlation quantification, downstream analysis and visualization, enabling comprehensive dataset exploration. By introducing a novel single-cell gene-peak correlation strength index, TREASMO facilitates accurate identification of regulatory changes at single-cell resolution. Validation on a hematopoietic stem and progenitor cell dataset showcases TREASMO's capacity in quantifying the gene-peak correlation strength at the single-cell level, identifying regulatory markers and discovering temporal regulatory patterns along the …


Best Practices For Helicobacter Pylori Management, David Y Graham Mar 2024

Best Practices For Helicobacter Pylori Management, David Y Graham

Faculty, Staff and Students Publications

For decades, antimicrobial therapy for Helicobacter pylori infection has been given empirically, and the results of therapy (success or failure) have either not been confirmed or when confirmed have not been used to modify prescribing behavior. These practices coupled with increasing antibiotic resistance have resulted in low cure rates overall. Susceptibility testing for H pylori has increasingly become available, especially in the United States. Availability of susceptibility-based therapy has encouraged adoption of the principles of antimicrobial stewardship for H pylori infection (eg, limiting antibiotic choice to antibiotics for which the infection is susceptible given at optimal doses, formulations, frequency of …


Prognostic Significance Of Acute Kidney Injury Stage 1b In Hospitalized Patients With Cirrhosis: A Us Nationwide Study, Kavish R Patidar, Giuseppe Cullaro, Mobasshir A Naved, Shaowli Kabir, Ananth Grama, Eric S Orman, Salvatore Piano, Andrew S Allegretti Mar 2024

Prognostic Significance Of Acute Kidney Injury Stage 1b In Hospitalized Patients With Cirrhosis: A Us Nationwide Study, Kavish R Patidar, Giuseppe Cullaro, Mobasshir A Naved, Shaowli Kabir, Ananth Grama, Eric S Orman, Salvatore Piano, Andrew S Allegretti

Faculty, Staff and Students Publications

Understanding the prognostic significance of acute kidney injury (AKI) stage 1B [serum creatinine (sCr) ≥1.5 mg/dL] compared with stage 1A (sCr < 1.5 mg/dL) in a US population is important as it can impact initial management decisions for AKI in hospitalized cirrhosis patients. Therefore, we aimed to define outcomes associated with stage 1B in a nationwide US cohort of hospitalized cirrhosis patients with AKI. Hospitalized cirrhosis patients with AKI in the Cerner-Health-Facts database from January 2009 to September 2017 (n = 6250) were assessed for AKI stage 1 (≥1.5-2-fold increase in sCr from baseline) and were followed for 90 days for outcomes. The primary outcome was 90-day mortality; secondary outcomes were in-hospital AKI progression and AKI recovery. Competing-risk multivariable analysis was performed to determine the independent association between stage 1B, 90-day mortality (liver transplant as a competing risk), and AKI recovery (death/liver transplant as a competing risk). Multivariable logistic regression analysis was performed to determine the independent association between stage 1B and AKI progression. In all, 4654 patients with stage 1 were analyzed: 1A (44.3%) and 1B (55.7%). Stage 1B patients had a significantly higher cumulative incidence of 90-day mortality compared with stage 1A patients, 27.2% versus 19.7% ( p < 0.001). In multivariable competing-risk analysis, patients with stage 1B (vs. 1A) had a higher risk for mortality at 90 days [sHR 1.52 (95% CI 1.20-1.92), p = 0.001] and decreased probability for AKI recovery [sHR 0.76 (95% CI 0.69-0.83), p < 0.001]. Furthermore, in multivariable logistic regression analysis, AKI stage 1B (vs. 1A) was independently associated with AKI progression, OR 1.42 (95% CI 1.14-1.72) ( p < 0.001). AKI stage 1B patients have a significantly higher risk for 90-day mortality, AKI progression, and reduced probability of AKI recovery compared with AKI stage 1A patients. These results could guide initial management decisions for AKI in hospitalized patients with cirrhosis.


Endocrine-Sensitive Disease Rate In Postmenopausal Patients With Estrogen Receptor-Rich/Erbb2-Negative Breast Cancer Receiving Neoadjuvant Anastrozole, Fulvestrant, Or Their Combination: A Phase 3 Randomized Clinical Trial, Cynthia X Ma, Vera J Suman, Souzan Sanati, Kiran Vij, Meenakshi Anurag, A Marilyn Leitch, Gary W Unzeitig, Jeremy Hoog, Aranzazu Fernandez-Martinez, Cheng Fan, Richard A Gibbs, Mark A Watson, Travis J Dockter, Olwen Hahn, Joseph M Guenther, Abigail Caudle, Erika Crouch, Amy Tiersten, Monica Mita, Wajeeha Razaq, Tina J Hieken, Yang Wang, Mothaffar F Rimawi, Anna Weiss, Eric P Winer, Kelly K Hunt, Charles M Perou, Matthew J Ellis, Ann H Partridge, Lisa A Carey Mar 2024

Endocrine-Sensitive Disease Rate In Postmenopausal Patients With Estrogen Receptor-Rich/Erbb2-Negative Breast Cancer Receiving Neoadjuvant Anastrozole, Fulvestrant, Or Their Combination: A Phase 3 Randomized Clinical Trial, Cynthia X Ma, Vera J Suman, Souzan Sanati, Kiran Vij, Meenakshi Anurag, A Marilyn Leitch, Gary W Unzeitig, Jeremy Hoog, Aranzazu Fernandez-Martinez, Cheng Fan, Richard A Gibbs, Mark A Watson, Travis J Dockter, Olwen Hahn, Joseph M Guenther, Abigail Caudle, Erika Crouch, Amy Tiersten, Monica Mita, Wajeeha Razaq, Tina J Hieken, Yang Wang, Mothaffar F Rimawi, Anna Weiss, Eric P Winer, Kelly K Hunt, Charles M Perou, Matthew J Ellis, Ann H Partridge, Lisa A Carey

Faculty, Staff and Students Publications

IMPORTANCE: Adding fulvestrant to anastrozole (A+F) improved survival in postmenopausal women with advanced estrogen receptor (ER)-positive/ERBB2 (formerly HER2)-negative breast cancer. However, the combination has not been tested in early-stage disease.

OBJECTIVE: To determine whether neoadjuvant fulvestrant or A+F increases the rate of pathologic complete response or ypT1-2N0/N1mic/Ki67 2.7% or less residual disease (referred to as endocrine-sensitive disease) over anastrozole alone.

DESIGN, SETTING, AND PARTICIPANTS: A phase 3 randomized clinical trial assessing differences in clinical and correlative outcomes between each of the fulvestrant-containing arms and the anastrozole arm. Postmenopausal women with clinical stage II to III, ER-rich (Allred score 6-8 or …


Discontinuation Of Contact Precautions In Patients With Hospital-Acquired Mrsa And Vre Infections During The Covid-19 Pandemic: A Multi-Center Experience, Gillean Kelly, Marisa Hudson, Bridget Apple, Debora Bundage, Bradley Lembcke, Todd Lasco, Mayar Al Mohajer Mar 2024

Discontinuation Of Contact Precautions In Patients With Hospital-Acquired Mrsa And Vre Infections During The Covid-19 Pandemic: A Multi-Center Experience, Gillean Kelly, Marisa Hudson, Bridget Apple, Debora Bundage, Bradley Lembcke, Todd Lasco, Mayar Al Mohajer

Faculty, Staff and Students Publications

Variations in the literature support the benefit of contact precautions for methicillin-resistant Staphylococcus aureus (MRSA) and vancomycin-resistant enterococci (VRE) infections in the hospital setting. During personal protective equipment shortages throughout the COVID-19 pandemic, contact precautions were discontinued for MRSA and VRE-infected patients. Rates of hospital-acquired MRSA and VRE infections were compared before and after this intervention, along with hand hygiene proportions. Contact precaution discontinuation did not lead to an increase in hospital-acquired MRSA or VRE infections.


Retinal Thickness In Essential Tremor And Early Parkinson Disease: Exploring Diagnostic Insights, Claudio Terravecchia, Giovanni Mostile, Clara G Chisari, Cristina Rascunà, Roberta Terranova, Calogero E Cicero, Loretta Giuliano, Giulia Donzuso, Giorgia Sciacca, Antonina Luca, Pierre-Marie Preux, Joseph Jankovic, Mario Zappia, Alessandra Nicoletti Mar 2024

Retinal Thickness In Essential Tremor And Early Parkinson Disease: Exploring Diagnostic Insights, Claudio Terravecchia, Giovanni Mostile, Clara G Chisari, Cristina Rascunà, Roberta Terranova, Calogero E Cicero, Loretta Giuliano, Giulia Donzuso, Giorgia Sciacca, Antonina Luca, Pierre-Marie Preux, Joseph Jankovic, Mario Zappia, Alessandra Nicoletti

Faculty, Staff and Students Publications

BACKGROUND: Essential tremor (ET) represents a heterogeneous condition which may overlap with Parkinson disease (PD) even at early stages, by sharing some subtle clinical aspects. Longstanding ET demonstrated also higher risk of developing PD, especially with a Tremor-dominant (TD-PD) phenotype. Therefore, differential diagnosis between ET and early PD could be quite challenging. Optical coherence tomography (OCT) has been recognized as a reliable tool to assess the retina as a proxy of neurodegeneration. We aimed to explore the possible role of retinal assessment in differential diagnosis between ET and early PD.

METHODS: Macular layers and peripapillary retinal nerve fiber layer (RNFL) …


Smaller Total And Subregional Cerebellar Volumes In Posttraumatic Stress Disorder: A Mega-Analysis By The Enigma-Pgc Ptsd Workgroup, Ashley A Huggins, C Lexi Baird, Melvin Briggs, Sarah Laskowitz, Ahmed Hussain, Samar Fouda, Courtney Haswell, Delin Sun, Lauren E Salminen, Neda Jahanshad, Sophia I Thomopoulos, Dick J Veltman, Jessie L Frijling, Miranda Olff, Mirjam Van Zuiden, Saskia B J Koch, Laura Nawjin, Li Wang, Ye Zhu, Gen Li, Dan J Stein, Jonathan Ipser, Soraya Seedat, Stefan Du Plessis, Leigh L Van Den Heuvel, Benjamin Suarez-Jimenez, Xi Zhu, Yoojean Kim, Xiaofu He, Sigal Zilcha-Mano, Amit Lazarov, Yuval Neria, Jennifer S Stevens, Kerry J Ressler, Tanja Jovanovic, Sanne J H Van Rooij, Negar Fani, Anna R Hudson, Sven C Mueller, Anika Sierk, Antje Manthey, Henrik Walter, Judith K Daniels, Christian Schmahl, Julia I Herzog, Pavel Říha, Ivan Rektor, Lauren A M Lebois, Milissa L Kaufman, Elizabeth A Olson, Justin T Baker, Isabelle M Rosso, Anthony P King, Isreal Liberzon, Mike Angstadt, Nicholas D Davenport, Scott R Sponheim, Seth G Disner, Thomas Straube, David Hofmann, Rongfeng Qi, Guang Ming Lu, Lee A Baugh, Gina L Forster, Raluca M Simons, Jeffrey S Simons, Vincent A Magnotta, Kelene A Fercho, Adi Maron-Katz, Amit Etkin, Andrew S Cotton, Erin N O'Leary, Hong Xie, Xin Wang, Yann Quidé, Wissam El-Hage, Shmuel Lissek, Hannah Berg, Steven Bruce, Josh Cisler, Marisa Ross, Ryan J Herringa, Daniel W Grupe, Jack B Nitschke, Richard J Davidson, Christine L Larson, Terri A Deroon-Cassini, Carissa W Tomas, Jacklynn M Fitzgerald, Jennifer Urbano Blackford, Bunmi O Olatunji, William S Kremen, Michael J Lyons, Carol E Franz, Evan M Gordon, Geoffrey May, Steven M Nelson, Chadi G Abdallah, Ifat Levy, Ilan Harpaz-Rotem, John H Krystal, Emily L Dennis, David F Tate, David X Cifu, William C Walker, Elizabeth A Wilde, Ian H Harding, Rebecca Kerestes, Paul M Thompson, Rajendra Morey Mar 2024

Smaller Total And Subregional Cerebellar Volumes In Posttraumatic Stress Disorder: A Mega-Analysis By The Enigma-Pgc Ptsd Workgroup, Ashley A Huggins, C Lexi Baird, Melvin Briggs, Sarah Laskowitz, Ahmed Hussain, Samar Fouda, Courtney Haswell, Delin Sun, Lauren E Salminen, Neda Jahanshad, Sophia I Thomopoulos, Dick J Veltman, Jessie L Frijling, Miranda Olff, Mirjam Van Zuiden, Saskia B J Koch, Laura Nawjin, Li Wang, Ye Zhu, Gen Li, Dan J Stein, Jonathan Ipser, Soraya Seedat, Stefan Du Plessis, Leigh L Van Den Heuvel, Benjamin Suarez-Jimenez, Xi Zhu, Yoojean Kim, Xiaofu He, Sigal Zilcha-Mano, Amit Lazarov, Yuval Neria, Jennifer S Stevens, Kerry J Ressler, Tanja Jovanovic, Sanne J H Van Rooij, Negar Fani, Anna R Hudson, Sven C Mueller, Anika Sierk, Antje Manthey, Henrik Walter, Judith K Daniels, Christian Schmahl, Julia I Herzog, Pavel Říha, Ivan Rektor, Lauren A M Lebois, Milissa L Kaufman, Elizabeth A Olson, Justin T Baker, Isabelle M Rosso, Anthony P King, Isreal Liberzon, Mike Angstadt, Nicholas D Davenport, Scott R Sponheim, Seth G Disner, Thomas Straube, David Hofmann, Rongfeng Qi, Guang Ming Lu, Lee A Baugh, Gina L Forster, Raluca M Simons, Jeffrey S Simons, Vincent A Magnotta, Kelene A Fercho, Adi Maron-Katz, Amit Etkin, Andrew S Cotton, Erin N O'Leary, Hong Xie, Xin Wang, Yann Quidé, Wissam El-Hage, Shmuel Lissek, Hannah Berg, Steven Bruce, Josh Cisler, Marisa Ross, Ryan J Herringa, Daniel W Grupe, Jack B Nitschke, Richard J Davidson, Christine L Larson, Terri A Deroon-Cassini, Carissa W Tomas, Jacklynn M Fitzgerald, Jennifer Urbano Blackford, Bunmi O Olatunji, William S Kremen, Michael J Lyons, Carol E Franz, Evan M Gordon, Geoffrey May, Steven M Nelson, Chadi G Abdallah, Ifat Levy, Ilan Harpaz-Rotem, John H Krystal, Emily L Dennis, David F Tate, David X Cifu, William C Walker, Elizabeth A Wilde, Ian H Harding, Rebecca Kerestes, Paul M Thompson, Rajendra Morey

Faculty, Staff and Students Publications

Although the cerebellum contributes to higher-order cognitive and emotional functions relevant to posttraumatic stress disorder (PTSD), prior research on cerebellar volume in PTSD is scant, particularly when considering subregions that differentially map on to motor, cognitive, and affective functions. In a sample of 4215 adults (PTSD n = 1642; Control n = 2573) across 40 sites from the ENIGMA-PGC PTSD working group, we employed a new state-of-the-art deep-learning based approach for automatic cerebellar parcellation to obtain volumetric estimates for the total cerebellum and 28 subregions. Linear mixed effects models controlling for age, gender, intracranial volume, and site were used to …


A Surgical Collaborative To Empower Medical Student Research, Spoorthi Kamepalli, Joseph R Junkin, Syed S Bakhtiyar, Ashley Montgomery, Michael Dileo, Thao N Galván, John A Goss, Abbas A Rana Mar 2024

A Surgical Collaborative To Empower Medical Student Research, Spoorthi Kamepalli, Joseph R Junkin, Syed S Bakhtiyar, Ashley Montgomery, Michael Dileo, Thao N Galván, John A Goss, Abbas A Rana

Faculty, Staff and Students Publications

Mini abstracts: Faculty at the Baylor College of Medicine have developed a flexible research collaborative through which students gain research skills and individualized mentorship. This division has produced 86 trainee first author publications, 64 manuscripts by 34 different medical students with an average Scimago Journal Rank of 1.293 (range: 1.035-1.551) since 2015.


Left Ventricular Ejection Fraction And The Future Of Heart Failure Phenotyping, Matthew G Dimond, Nasrien E Ibrahim, Mona Fiuzat, John J V Mcmurray, Joann Lindenfeld, Tariq Ahmad, Biykem Bozkurt, Michael R Bristow, Javed Butler, Peter E Carson, G Michael Felker, Mariell Jessup, Jaime Murillo, Toru Kondo, Scott D Solomon, William T Abraham, Christopher M O'Connor, Mitchell A Psotka Mar 2024

Left Ventricular Ejection Fraction And The Future Of Heart Failure Phenotyping, Matthew G Dimond, Nasrien E Ibrahim, Mona Fiuzat, John J V Mcmurray, Joann Lindenfeld, Tariq Ahmad, Biykem Bozkurt, Michael R Bristow, Javed Butler, Peter E Carson, G Michael Felker, Mariell Jessup, Jaime Murillo, Toru Kondo, Scott D Solomon, William T Abraham, Christopher M O'Connor, Mitchell A Psotka

Faculty, Staff and Students Publications

Heart failure (HF) is a complex syndrome traditionally classified by left ventricular ejection fraction (LVEF) cutpoints. Although LVEF is prognostic for risk of events and predictive of response to some HF therapies, LVEF is a continuous variable and cutpoints are arbitrary, often based on historical clinical trial enrichment decisions rather than physiology. Holistic evaluation of the treatment effects for therapies throughout the LVEF range suggests the standard categorization paradigm for HF merits modification. The multidisciplinary Heart Failure Collaboratory reviewed data from large-scale HF clinical trials and found that many HF therapies have demonstrated therapeutic benefit across a large range of …


Centriole And Transition Zone Structures In Photoreceptor Cilia Revealed By Cryo-Electron Tomography, Zhixian Zhang, Abigail R Moye, Feng He, Muyuan Chen, Melina A Agosto, Theodore G Wensel Mar 2024

Centriole And Transition Zone Structures In Photoreceptor Cilia Revealed By Cryo-Electron Tomography, Zhixian Zhang, Abigail R Moye, Feng He, Muyuan Chen, Melina A Agosto, Theodore G Wensel

Faculty, Staff and Students Publications

Primary cilia mediate sensory signaling in multiple organisms and cell types but have structures adapted for specific roles. Structural defects in them lead to devastating diseases known as ciliopathies in humans. Key to their functions are structures at their base: the basal body, the transition zone, the "Y-shaped links," and the "ciliary necklace." We have used cryo-electron tomography with subtomogram averaging and conventional transmission electron microscopy to elucidate the structures associated with the basal region of the "connecting cilia" of rod outer segments in mouse retina. The longitudinal variations in microtubule (MT) structures and the lumenal scaffold complexes connecting them …


Spontaneous Coronary Artery Dissection With Cardiogenic Shock In The United States, Chayakrit Krittanawong, Dhrubajyoti Bandyopadhyay, Neelkumar Patel, Yusuf Kamran Qadeer, Neil Sagar Maitra, Zhen Wang, Mahboob Alam, Samin Sharma, Hani Jneid Mar 2024

Spontaneous Coronary Artery Dissection With Cardiogenic Shock In The United States, Chayakrit Krittanawong, Dhrubajyoti Bandyopadhyay, Neelkumar Patel, Yusuf Kamran Qadeer, Neil Sagar Maitra, Zhen Wang, Mahboob Alam, Samin Sharma, Hani Jneid

Faculty, Staff and Students Publications

BACKGROUND: Spontaneous coronary artery dissection (SCAD) is defined as a non-traumatic separation of the epicardial coronary artery walls that creates a false lumen. SCAD poses a difficult challenge in management, as decisions regarding revascularization and medical management seem to be tailored to the individual patient. We evaluated and compared outcomes based on cardiogenic shock in patients with SCAD utilizing Nationwide Readmissions Database (NRD) between January 1, 2016, to December 30, 2020.

METHODS: We utilized the NRD 2016-2019 to carry out this study. We evaluated demographics (e.g., age, gender), conventional risk factors, comorbidities present on the index admission, and in-hospital outcomes …


Heterozygous Map3k20 Variants Cause Ectodermal Dysplasia, Craniosynostosis, Sensorineural Hearing Loss, And Limb Anomalies, Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, Undiagnosed Diseases Network, Seema Lalani, Jill A Rosenfeld, Lindsay C Burrage Mar 2024

Heterozygous Map3k20 Variants Cause Ectodermal Dysplasia, Craniosynostosis, Sensorineural Hearing Loss, And Limb Anomalies, Daniel Brooks, Elizabeth Burke, Sukyeong Lee, Tanya N Eble, Melanie O'Leary, Ikeoluwa Osei-Owusu, Heidi L Rehm, Shweta U Dhar, Lisa Emrick, David Bick, Michelle Nehrebecky, Ellen Macnamara, Dídac Casas-Alba, Judith Armstrong, Carolina Prat, Antonio F Martínez-Monseny, Francesc Palau, Pengfei Liu, David Adams, Undiagnosed Diseases Network, Seema Lalani, Jill A Rosenfeld, Lindsay C Burrage

Faculty, Staff and Students Publications

Biallelic pathogenic variants in MAP3K20, which encodes a mitogen-activated protein kinase, are a rare cause of split-hand foot malformation (SHFM), hearing loss, and nail abnormalities or congenital myopathy. However, heterozygous variants in this gene have not been definitively associated with a phenotype. Here, we describe the phenotypic spectrum associated with heterozygous de novo variants in the linker region between the kinase domain and leucine zipper domain of MAP3K20. We report five individuals with diverse clinical features, including craniosynostosis, limb anomalies, sensorineural hearing loss, and ectodermal dysplasia-like phenotypes who have heterozygous de novo variants in this specific region of the gene. …


Tuberculosis In People Of Ukrainian Origin In The European Union And The European Economic Area, 2019 To 2022, Krista Stoycheva, Veronica Cristea, Csaba Ködmön, Senia Rosales-Klintz, Dominik Zenner, Anca Vasiliu, Marieke Van Der Werf, Christoph Lange Mar 2024

Tuberculosis In People Of Ukrainian Origin In The European Union And The European Economic Area, 2019 To 2022, Krista Stoycheva, Veronica Cristea, Csaba Ködmön, Senia Rosales-Klintz, Dominik Zenner, Anca Vasiliu, Marieke Van Der Werf, Christoph Lange

Faculty, Staff and Students Publications

Approximately five million Ukrainians were displaced to the EU/EEA following the Russian invasion of Ukraine. While tuberculosis (TB) notification rates per 100,000 Ukrainians in the EU/EEA remained stable, the number of notified TB cases in Ukrainians increased almost fourfold (mean 2019-2021: 201; 2022: 780). In 2022, 71% cases were notified in three countries, and almost 20% of drug-resistant TB cases were of Ukrainian origin. Targeted healthcare services for Ukrainians are vital for early diagnosis and treatment, and preventing transmission.


Frequency Of Treatment Failure Of Utis In Children With Congenital Urinary Tract Anomalies, Catherine S Forster, Alexis C Wood, Stephanie Davis-Rodriguez, Pearl W Chang, Sanyukta Desai, Michael Tchou, John M Morrison, Jamie D Mudd, Brittany D Casey, Victor Trevisanut, Rana F Hamdy, Vijaya Vemulakonda, Patrick W Brady, Sowdhamini S Wallace, Uti In Children With Cakut Study Group Mar 2024

Frequency Of Treatment Failure Of Utis In Children With Congenital Urinary Tract Anomalies, Catherine S Forster, Alexis C Wood, Stephanie Davis-Rodriguez, Pearl W Chang, Sanyukta Desai, Michael Tchou, John M Morrison, Jamie D Mudd, Brittany D Casey, Victor Trevisanut, Rana F Hamdy, Vijaya Vemulakonda, Patrick W Brady, Sowdhamini S Wallace, Uti In Children With Cakut Study Group

Faculty, Staff and Students Publications

OBJECTIVES: Children with certain congenital anomalies of the kidney and urinary tract and neurogenic bladder (CAKUT/NGB) are at higher risk of treatment failure for urinary tract infections (UTIs) than children with normal genitourinary anatomy, but the literature describing treatment and outcomes is limited. The objectives of this study were to describe the rate of treatment failure in children with CAKUT/NGB and compare duration of antibiotics between those with and without treatment failure.

METHODS: Multicenter retrospective cohort of children 0 to 17 years old with CAKUT/NGB who presented to the emergency department with fever or hypothermia and were diagnosed with UTI …


Crises In Antimicrobial Stewardship: Misuse Of Clarithromycin For Helicobacter Pylori Therapy, David Y Graham Mar 2024

Crises In Antimicrobial Stewardship: Misuse Of Clarithromycin For Helicobacter Pylori Therapy, David Y Graham

Faculty, Staff and Students Publications

Helicobacter pylori is a class I carcinogen that infects more than 100 million individuals in the United States. Antimicrobial therapy for H. pylori has typically been prescribed empirically rather than based on susceptibility testing. Until recently, therapeutic recommendations have generally ignored the principles of antibiotic stewardship. A combination of a proton pump inhibitor (PPI), amoxicillin, and clarithromycin (triple therapy) remains popular despite increasing clarithromycin resistance and poor cure rates. Concomitant therapy (a PPI, amoxicillin, clarithromycin, and metronidazole) is recommended and widely used despite all patients receiving at least one unneeded antibiotic. In 2020, the Food and Drug Administration approved vonoprazan, …


Bi-Allelic Variants In Celsr3 Are Implicated In Central Nervous System And Urinary Tract Anomalies, Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim Mcbride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, Tudp Consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon Van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R Lupski, Benjamin Odermatt, Alina C Hilger Mar 2024

Bi-Allelic Variants In Celsr3 Are Implicated In Central Nervous System And Urinary Tract Anomalies, Jil D Stegmann, Jeshurun C Kalanithy, Gabriel C Dworschak, Nina Ishorst, Enrico Mingardo, Filipa M Lopes, Yee Mang Ho, Phillip Grote, Tobias T Lindenberg, Öznur Yilmaz, Khadija Channab, Steve Seltzsam, Shirlee Shril, Friedhelm Hildebrandt, Felix Boschann, André Heinen, Angad Jolly, Katherine Myers, Kim Mcbride, Mir Reza Bekheirnia, Nasim Bekheirnia, Marcello Scala, Manuela Morleo, Vincenzo Nigro, Annalaura Torella, Tudp Consortium, Michele Pinelli, Valeria Capra, Andrea Accogli, Silvia Maitz, Alice Spano, Rory J Olson, Eric W Klee, Brendan C Lanpher, Se Song Jang, Jong-Hee Chae, Philipp Steinbauer, Dietmar Rieder, Andreas R Janecke, Julia Vodopiutz, Ida Vogel, Jenny Blechingberg, Jennifer L Cohen, Kacie Riley, Victoria Klee, Laurence E Walsh, Matthias Begemann, Miriam Elbracht, Thomas Eggermann, Arzu Stoppe, Kyra Stuurman, Marjon Van Slegtenhorst, Tahsin Stefan Barakat, Maureen S Mulhern, Tristan T Sands, Cheryl Cytrynbaum, Rosanna Weksberg, Federica Isidori, Tommaso Pippucci, Giulia Severi, Francesca Montanari, Michael C Kruer, Somayeh Bakhtiari, Hossein Darvish, Heiko Reutter, Gregor Hagelueken, Matthias Geyer, Adrian S Woolf, Jennifer E Posey, James R Lupski, Benjamin Odermatt, Alina C Hilger

Faculty, Staff and Students Publications

CELSR3 codes for a planar cell polarity protein. We describe twelve affected individuals from eleven independent families with bi-allelic variants in CELSR3. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). Computational simulation of the 3D protein structure suggests the position of the identified variants to be implicated in penetrance and phenotype expression. CELSR3 immunolocalization in human embryonic urinary tract and transient suppression and rescue experiments of Celsr3 in fluorescent zebrafish reporter lines further support an …


Anesthetic Management Of Unanticipated Subglottic Stenosis In A Patient Undergoing Coronary Artery Bypass Graft Surgery, Claudia Wei, Dominique Wreh, Jacy Gressen, Anvinh Nguyen Mar 2024

Anesthetic Management Of Unanticipated Subglottic Stenosis In A Patient Undergoing Coronary Artery Bypass Graft Surgery, Claudia Wei, Dominique Wreh, Jacy Gressen, Anvinh Nguyen

Faculty, Staff and Students Publications

A 62-year-old female presented for a scheduled coronary artery bypass graft (CABG) and was found to have an unexpected subglottic stenosis during routine intubation. The case was aborted and six days later, the patient underwent lasering of the stenotic subglottic region and airway balloon dilation. In this case report, causes of subglottic stenosis and surgical/anesthetic management of the condition are discussed. The management of subglottic stenosis in this patient was complicated by concurrent severe coronary artery disease (CAD) involving the left main coronary artery and timing of airway surgery relative to interventions for her CAD. In situations of undiagnosed subglottic …


A Case Of Diffuse Thyroid Lipomatosis With Amyloid Deposits Presenting With Thyrotoxicosis, Adrian M Gonzalez-Gil, Marco A Ruiz-Santillan, Bahar K Force, Ruchi Gaba Mar 2024

A Case Of Diffuse Thyroid Lipomatosis With Amyloid Deposits Presenting With Thyrotoxicosis, Adrian M Gonzalez-Gil, Marco A Ruiz-Santillan, Bahar K Force, Ruchi Gaba

Faculty, Staff and Students Publications

Diffuse thyroid lipomatosis (DTL) is a rare entity of unknown etiology that can be associated with amyloidosis and rarely, thyrotoxicosis. Here, we present a case of DTL with amyloid deposits and concurrent thyrotoxicosis. A 64-year-old South-Asian woman with a several-year history of an enlarging goiter, unintentional weight loss, and work-up 10 months prior suggestive of thyroiditis presented with a viral syndrome in setting of several weeks of progressive fatigue. Her examination was notable for resting sinus tachycardia and massive painless goiter. Initial work-up revealed nephrotic range proteinuria with hypoalbuminemia, which progressed to end-stage-renal disease, elevated inflammatory markers, and elevated free …


Clonal Hematopoiesis Of Indeterminate Potential Is Associated With Acute Kidney Injury, Caitlyn Vlasschaert, Cassianne Robinson-Cohen, Jianchun Chen, Elvis Akwo, Alyssa C Parker, Samuel A Silver, Pavan K Bhatraju, Hannah Poisner, Shirong Cao, Ming Jiang, Yinqiu Wang, Aolei Niu, Edward Siew, Joseph C Van Amburg, Holly J Kramer, Anna Kottgen, Nora Franceschini, Bruce M Psaty, Russell P Tracy, Alvaro Alonso, Dan E Arking, Josef Coresh, Christie M Ballantyne, Eric Boerwinkle, Morgan Grams, Ming-Zhi Zhang, Bryan Kestenbaum, Matthew B Lanktree, Michael J Rauh, Raymond C Harris, Alexander G Bick Mar 2024

Clonal Hematopoiesis Of Indeterminate Potential Is Associated With Acute Kidney Injury, Caitlyn Vlasschaert, Cassianne Robinson-Cohen, Jianchun Chen, Elvis Akwo, Alyssa C Parker, Samuel A Silver, Pavan K Bhatraju, Hannah Poisner, Shirong Cao, Ming Jiang, Yinqiu Wang, Aolei Niu, Edward Siew, Joseph C Van Amburg, Holly J Kramer, Anna Kottgen, Nora Franceschini, Bruce M Psaty, Russell P Tracy, Alvaro Alonso, Dan E Arking, Josef Coresh, Christie M Ballantyne, Eric Boerwinkle, Morgan Grams, Ming-Zhi Zhang, Bryan Kestenbaum, Matthew B Lanktree, Michael J Rauh, Raymond C Harris, Alexander G Bick

Faculty, Staff and Student Publications

Age is a predominant risk factor for acute kidney injury (AKI), yet the biological mechanisms underlying this risk are largely unknown. Clonal hematopoiesis of indeterminate potential (CHIP) confers increased risk for several chronic diseases associated with aging. Here we sought to test whether CHIP increases the risk of AKI. In three population-based epidemiology cohorts, we found that CHIP was associated with a greater risk of incident AKI, which was more pronounced in patients with AKI requiring dialysis and in individuals with somatic mutations in genes other than DNMT3A, including mutations in TET2 and JAK2. Mendelian randomization analyses supported a causal …


Reply: Efficacy Of Segmented Axial Length And Artificial Intelligence Approaches To Intraocular Lens Power Calculation In Short Eyes, Karim Kozhaya, Peter I Kenny, Li Wang, Mitchell P Weikert, Douglas D Koch Mar 2024

Reply: Efficacy Of Segmented Axial Length And Artificial Intelligence Approaches To Intraocular Lens Power Calculation In Short Eyes, Karim Kozhaya, Peter I Kenny, Li Wang, Mitchell P Weikert, Douglas D Koch

Faculty, Staff and Students Publications

No abstract provided.


Overview Of The Zoonotic Potential And Coinfection Of Sars-Cov-2 In Indonesia, Muhammad Khaliim Jati Kusala, Ni Luh Putu Indi Dharmayanti Feb 2024

Overview Of The Zoonotic Potential And Coinfection Of Sars-Cov-2 In Indonesia, Muhammad Khaliim Jati Kusala, Ni Luh Putu Indi Dharmayanti

Karbala International Journal of Modern Science

In the ASEAN region, Indonesia has the highest overall COVID-19 infection score. The SARS-CoV-2 pandemic first emerged in China and then transmitted sporadically throughout the world. Animals and humans can be infected with the corona virus, so this disease is classified as a zoonotic disease. This review aims to gather information regarding the potential of SARS-CoV-2 as a zoonotic disease and coinfections with several other pathogens in Indonesia. This study collected data demonstrating the potential for COVID-19 to be transmitted from humans to animals, as an evidenced by positive test results for the Bat Coronavirus Antigen in bats. Cats have …


The Global Landscape Of Immune-Derived Lncrna Signature In Colorectal Cancer, Mengying Zhang, Yifei Wu, Jingyi Mou, Yang Yao, Pengbo Wen, Xin Liu, Shipeng Shang, Xingxing Kang, Jiaqi Tian, Yan Liu, Enhui Lv, Liang Wang Feb 2024

The Global Landscape Of Immune-Derived Lncrna Signature In Colorectal Cancer, Mengying Zhang, Yifei Wu, Jingyi Mou, Yang Yao, Pengbo Wen, Xin Liu, Shipeng Shang, Xingxing Kang, Jiaqi Tian, Yan Liu, Enhui Lv, Liang Wang

Research outputs 2022 to 2026

Background: Colorectal cancer (CRC) is a highly heterogeneous cancer. This heterogeneity has an impact on the efficacy of immunotherapy. Long noncoding RNAs (lncRNAs) have been found to play regulatory functions in cancer immunity. However, the global landscape of immune-derived lncRNA signatures has not yet been explored in colorectal cancer. Methods: In this study, we applied DESeq2 to identify differentially expressed lncRNAs in colon cancer. Next, we performed an integrative analysis to globally identify immune-driven lncRNA markers in CRC, including immune-associated pathways, tumor immunogenomic features, tumor-infiltrating immune cells, immune checkpoints, microsatellite instability (MSI) and tumor mutation burden (TMB). Results: We also …


Postoperative Atrial Fibrillation (Poaf) After Cardiac Surgery: Clinical Practice Review, Orlando R Suero, Ahmed K Ali, Lauren R Barron, Matthew W Segar, Marc R Moon, Subhasis Chatterjee Feb 2024

Postoperative Atrial Fibrillation (Poaf) After Cardiac Surgery: Clinical Practice Review, Orlando R Suero, Ahmed K Ali, Lauren R Barron, Matthew W Segar, Marc R Moon, Subhasis Chatterjee

Faculty, Staff and Students Publications

Postoperative atrial fibrillation (POAF) after cardiac surgery is associated with elevated morbidity and mortality. Although current prediction models have limited efficacy, several perioperative interventions can reduce patients' risk of POAF. These begin with preoperative medications, including beta-blockers and amiodarone. Moreover, patients should be screened for preexisting atrial fibrillation (AF) so that concomitant surgical ablation and left atrial appendage occlusion can be performed in appropriate candidates. Intraoperative interventions such as posterior pericardiectomy can reduce mediastinal fluid accumulation, which is a trigger for POAF. Furthermore, many preventive strategies for POAF are implemented in the immediate postoperative period. Initiating beta-blockers, amiodarone, or both …


Impact Of Electronic Cigarettes On Pediatric, Adolescent And Young Adult Leukemia Patients, Sanila Sarkar, Lea M Stitzlein, Joya Chandra Feb 2024

Impact Of Electronic Cigarettes On Pediatric, Adolescent And Young Adult Leukemia Patients, Sanila Sarkar, Lea M Stitzlein, Joya Chandra

Faculty, Staff and Student Publications

Electronic cigarettes, which deliver an aerosolized, nicotine-containing product upon inhalation, are a public health issue that continue to gain popularity among adolescents and young adults in the United States. Use of electronic cigarettes is wide, and extends to pediatric patients with multiple comorbidities, including childhood cancer, leaving them vulnerable to further negative health outcomes. Acute leukemias are the most common type of cancer in pediatric populations, and treatment outcomes for these patients are improving; consequently, there is an increased emphasis on the effect of behavioral lifestyle factors on quality of life in survivorship. The rate of electronic cigarette use is …


Potential Value Of A Rapid Syndromic Multiplex Pcr For The Diagnosis Of Native And Prosthetic Joint Infections: A Real-World Evidence Study, Stéphanie Pascual, Brooklyn Noble, Nusreen Ahmad-Saeed, Catherine Aldridge, Simone Ambretti, Sharon Amit, Rachel Annett, Shaan Ashk O'Shea, Anna Maria Barbui, Gavin Barlow, Lucinda Barrett, Mario Berth, Alessandro Bondi, Nicola Boran, Sara E Boyd, Catarina Chaves, Martin Clauss, Peter Davies, Ileana T Dianzo-Delgado, Jaime Esteban, Stefan Fuchs, Lennart Friis-Hansen, Daniel Goldenberger, Andrej Golle, Juha O Groonroos, Ines Hoffmann, Tomer Hoffmann, Harriet Hughes, Marina Ivanova, Peter Jezek, Gwennan Jones, Zeynep Ceren Karahan, Cornelia Lass-Flörl, Frédéric Laurent, Laura Leach, Matilde Lee Horsbøll Pedersen, Caroline Loiez, Maureen Lynch, Robert J Maloney, Martin Marsh, Olivia Milburn, Shanine Mitchell, Luke S P Moore, Lynn Moffat, Marianna Murdjeva, Michael E Murphy, Deepa Nayar, Giacomo Nigrisoli, Fionnuala O'Sullivan, Büşra Öz, Teresa Peach, Christina Petridou, Mojgan Prinz, Mitja Rak, Niamh Reidy, Gian Maria Rossolini, Anne-Laure Roux, Patricia Ruiz-Garbajosa, Kordo Saeed, Llanos Salar-Vidal, Carlos Salas Venero, Mathyruban Selvaratnam, Eric Senneville, Peter Starzengruber, Ben Talbot, Vanessa Taylor, Rihard Trebše, Deborah Wearmouth, Birgit Willinger, Marjan Wouthuyzen-Bakker, Brianne Couturier, Florence Allantaz Feb 2024

Potential Value Of A Rapid Syndromic Multiplex Pcr For The Diagnosis Of Native And Prosthetic Joint Infections: A Real-World Evidence Study, Stéphanie Pascual, Brooklyn Noble, Nusreen Ahmad-Saeed, Catherine Aldridge, Simone Ambretti, Sharon Amit, Rachel Annett, Shaan Ashk O'Shea, Anna Maria Barbui, Gavin Barlow, Lucinda Barrett, Mario Berth, Alessandro Bondi, Nicola Boran, Sara E Boyd, Catarina Chaves, Martin Clauss, Peter Davies, Ileana T Dianzo-Delgado, Jaime Esteban, Stefan Fuchs, Lennart Friis-Hansen, Daniel Goldenberger, Andrej Golle, Juha O Groonroos, Ines Hoffmann, Tomer Hoffmann, Harriet Hughes, Marina Ivanova, Peter Jezek, Gwennan Jones, Zeynep Ceren Karahan, Cornelia Lass-Flörl, Frédéric Laurent, Laura Leach, Matilde Lee Horsbøll Pedersen, Caroline Loiez, Maureen Lynch, Robert J Maloney, Martin Marsh, Olivia Milburn, Shanine Mitchell, Luke S P Moore, Lynn Moffat, Marianna Murdjeva, Michael E Murphy, Deepa Nayar, Giacomo Nigrisoli, Fionnuala O'Sullivan, Büşra Öz, Teresa Peach, Christina Petridou, Mojgan Prinz, Mitja Rak, Niamh Reidy, Gian Maria Rossolini, Anne-Laure Roux, Patricia Ruiz-Garbajosa, Kordo Saeed, Llanos Salar-Vidal, Carlos Salas Venero, Mathyruban Selvaratnam, Eric Senneville, Peter Starzengruber, Ben Talbot, Vanessa Taylor, Rihard Trebše, Deborah Wearmouth, Birgit Willinger, Marjan Wouthuyzen-Bakker, Brianne Couturier, Florence Allantaz

Faculty, Staff and Student Publications

Introduction: The BIOFIRE Joint Infection (JI) Panel is a diagnostic tool that uses multiplex-PCR testing to detect microorganisms in synovial fluid specimens from patients suspected of having septic arthritis (SA) on native joints or prosthetic joint infections (PJIs). Methods: A study was conducted across 34 clinical sites in 19 European and Middle Eastern countries from March 2021 to June 2022 to assess the effectiveness of the BIOFIRE JI Panel. Results: A total of 1527 samples were collected from patients suspected of SA or PJI, with an overall agreement of 88.4 % and 85 % respectively between the …


Stat5 Induces Androgen Receptor (Ar) Gene Transcription In Prostate Cancer And Offers A Druggable Pathway To Target Ar Signaling, Cristina Maranto, Lavannya Sabharwal, Vindhya Udhane, Samuel P. Pitzen, Braedan Mccluskey, Songyan Qi, Christine O'Connor, Savita Devi, Scott Johnson, Kenneth Jacobsohn, Anjishnu Banerjee, Kenneth A. Iczkowski, Liang Wang, Scott M. Dehm, Marja T. Nevalainen Feb 2024

Stat5 Induces Androgen Receptor (Ar) Gene Transcription In Prostate Cancer And Offers A Druggable Pathway To Target Ar Signaling, Cristina Maranto, Lavannya Sabharwal, Vindhya Udhane, Samuel P. Pitzen, Braedan Mccluskey, Songyan Qi, Christine O'Connor, Savita Devi, Scott Johnson, Kenneth Jacobsohn, Anjishnu Banerjee, Kenneth A. Iczkowski, Liang Wang, Scott M. Dehm, Marja T. Nevalainen

Department of Pharmacology, Physiology, and Cancer Biology Faculty Papers

Androgen receptor (AR) drives prostate cancer (PC) growth and progression, and targeting AR signaling is the mainstay of pharmacological therapies for PC. Resistance develops relatively fast as a result of refueled AR activity. A major gap in the field is the lack of understanding of targetable mechanisms that induce persistent AR expression in castrate-resistant PC (CRPC). This study uncovers an unexpected function of active Stat5 signaling, a known promoter of PC growth and clinical progression, as a potent inducer of AR gene transcription. Stat5 suppression inhibited AR gene transcription in preclinical PC models and reduced the levels of wild-type, mutated, …


Scurvy: A Rare Disease Or A Rare Diagnosis?, David F. Gaieski Feb 2024

Scurvy: A Rare Disease Or A Rare Diagnosis?, David F. Gaieski

Department of Emergency Medicine Faculty Papers

Introduction:

Scurvy, the disease state caused by ascorbic acid deficiency, was once an extremely common disease but is now thought to be a rare disease in postmodern societies. Physicians are not trained to consider scurvy as a possible diagnosis in patients at risk; rather, it is considered a rare diagnosis to add to a differential for completeness’s sake.

Methods:

We sought to describe the scorbutic patients seen by one physician during a busy academic emergency medicine career. Case series of patients seen by one physician between 1993 and 2023 at five academic teaching hospitals with Emergency Departments (EDs) in the …


Current And Emerging Antiviral Agents In The Prevention And Treatment Of Cytomegalovirus In Pediatric Transplant Recipients, Kristen G Valencia Deray, Lara A Danziger-Isakov, Kevin J Downes Feb 2024

Current And Emerging Antiviral Agents In The Prevention And Treatment Of Cytomegalovirus In Pediatric Transplant Recipients, Kristen G Valencia Deray, Lara A Danziger-Isakov, Kevin J Downes

Faculty, Staff and Students Publications

Despite current prophylaxis regimens, cytomegalovirus (CMV) is common in hematopoietic cell transplantation (HCT) and solid organ transplantation (SOT) and remains a significant cause of morbidity and mortality. Newer antiviral medications are reshaping the landscape for prevention and treatment of CMV DNAemia, infection, and disease. Letermovir is approved for CMV prevention in adult HCT patients and is attractive due to the absence of marrow suppression seen with ganciclovir/valganciclovir. Letermovir should not be routinely used for CMV treatment due to its low threshold for resistance. Maribavir is approved for the treatment of refractory or resistant CMV disease in HCT and SOT recipients …


Gamma Delta T Cells In Acute Myeloid Leukemia: Biology And Emerging Therapeutic Strategies, Adishwar Rao, Akriti Agrawal, Gautam Borthakur, Venkata Lokesh Battula, Abhishek Maiti Feb 2024

Gamma Delta T Cells In Acute Myeloid Leukemia: Biology And Emerging Therapeutic Strategies, Adishwar Rao, Akriti Agrawal, Gautam Borthakur, Venkata Lokesh Battula, Abhishek Maiti

Faculty, Staff and Student Publications

γδ T cells play an important role in disease control in acute myeloid leukemia (AML) and have become an emerging area of therapeutic interest. These cells represent a minor population of T lymphocytes with intrinsic abilities to recognize antigens in a major histocompatibility complex-independent manner and functionally straddle the innate and adaptive immunity interface. AML shows high expression of phosphoantigens and UL-16 binding proteins that activate the Vδ2 and Vδ1 subtypes of γδ T cells, respectively, leading to γδ T cell-mediated cytotoxicity. Insights from murine models and clinical data in humans show improved overall survival, leukemia-free survival, reduced risk of …