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Articles 12841 - 12870 of 76889

Full-Text Articles in Medical Specialties

Estimating The Number Of Polygenic Diseases Among Six Mutually Exclusive Entities Of Non-Tumors And Cancer, C I Edvard Smith, Jan A Burger, Rula Zain Nov 2024

Estimating The Number Of Polygenic Diseases Among Six Mutually Exclusive Entities Of Non-Tumors And Cancer, C I Edvard Smith, Jan A Burger, Rula Zain

Faculty, Staff and Student Publications

In the era of precision medicine with increasing amounts of sequenced cancer and non-cancer genomes of different ancestries, we here enumerate the resulting polygenic disease entities. Based on the cell number status, we first identified six fundamental types of polygenic illnesses, five of which are non-cancerous. Like complex, non-tumor disorders, neoplasms normally carry alterations in multiple genes, including in 'Drivers' and 'Passengers'. However, tumors also lack certain genetic alterations/epigenetic changes, recently named 'Goners', which are toxic for the neoplasm and potentially constitute therapeutic targets. Drivers are considered essential for malignant transformation, whereas environmental influences vary considerably among both types of …


Probabilistic Presurgical Language Fmri Atlas Of Patients With Brain Tumors, Jian Ming Teo, Vinodh A Kumar, Jina Lee, Rami W Eldaya, Ping Hou, Mu-Lan Jen, Kyle R Noll, Peng Wei, Sherise D Ferguson, Sujit S Prabhu, Max Wintermark, Ho-Ling Liu Nov 2024

Probabilistic Presurgical Language Fmri Atlas Of Patients With Brain Tumors, Jian Ming Teo, Vinodh A Kumar, Jina Lee, Rami W Eldaya, Ping Hou, Mu-Lan Jen, Kyle R Noll, Peng Wei, Sherise D Ferguson, Sujit S Prabhu, Max Wintermark, Ho-Ling Liu

Faculty, Staff and Student Publications

Background and purpose: Patients with brain tumors have high intersubject variation in putative language regions, which may limit the utility of straightforward application of healthy subject brain atlases in clinical scenarios. The purpose of this study was to develop a probabilistic functional brain atlas that consolidates language functional activations of sentence completion and Silent Word Generation language paradigms using a large sample of patients with brain tumors.

Materials and methods: The atlas was developed using retrospectively collected fMRI data from patients with brain tumors who underwent their first standard-of-care presurgical language fMRI scan at our institution between July 18, 2015, …


Determinants Of Salary Variation And The Gender Pay Gap: A Survey Of The American Association Of Hip And Knee Surgeons (Aahks) Surgeon Member Workforce, Prem N. Ramkumar, Jenna A. Bernstein, David C. Landy, David E. Demik, Justin T. Deen, Reena J. Olsen, Anna Cohen-Rosenblum Nov 2024

Determinants Of Salary Variation And The Gender Pay Gap: A Survey Of The American Association Of Hip And Knee Surgeons (Aahks) Surgeon Member Workforce, Prem N. Ramkumar, Jenna A. Bernstein, David C. Landy, David E. Demik, Justin T. Deen, Reena J. Olsen, Anna Cohen-Rosenblum

School of Medicine Faculty Publications

Background: The increased emphasis on reimbursement, diversity, and burnout in hip and knee arthroplasty necessitates a foundational understanding of the surgeon workforce. The purpose of the study was to cross sectionally survey a representative sample of the AAHKS surgeon membership on the subject of salary, practice patterns, and demographic factors to establish a baseline framework for future advocacy efforts and initiatives. Methods: An online survey was sent to AAHKS members between December 20, 2022 and January 19, 2023. Surgeon demographic data, experience, practice geography and type, and annual case volume were solicited. Univariate and multivariate analyses were performed to describe …


Identification Of Atypical Pediatric Diabetes Mellitus Cases Using Electronic Medical Records, Marcela F Astudillo, William E Winter, Liana K Billings, Raymond Kreienkamp, Ashok Balasubramanyam, Maria J Redondo, Mustafa Tosur Nov 2024

Identification Of Atypical Pediatric Diabetes Mellitus Cases Using Electronic Medical Records, Marcela F Astudillo, William E Winter, Liana K Billings, Raymond Kreienkamp, Ashok Balasubramanyam, Maria J Redondo, Mustafa Tosur

Faculty, Staff and Students Publications

INTRODUCTION: There are no established methods to identify children with atypical diabetes for further study. We aimed to develop strategies to systematically ascertain cases of atypical pediatric diabetes using electronic medical records (EMR).

RESEARCH DESIGN AND METHODS: We tested two strategies in a large pediatric hospital in the USA. Strategy 1: we designed a questionnaire to rule out typical diabetes and applied it to the EMR of 100 youth with diabetes. Strategy 2: we built three electronic queries to generate reports of three atypical pediatric diabetes phenotypes: unknown type, type 2 diabetes (T2D) diagnosed(AbNegT1D).

RESULTS: Strategy 1 identified six cases …


Brain Metastases In Sarcomas: A Multicenter Retrospective Cohort Study, Ellen Zhang, Sheima Farag, Hilary Dietz, Daniel Wang, Angela Hirbe, Kristen Ganjoo, Brian Van Tine, Shane Zaid, Aisha Miah, Vicki Keedy, Elizabeth Davis, Nam Bui Nov 2024

Brain Metastases In Sarcomas: A Multicenter Retrospective Cohort Study, Ellen Zhang, Sheima Farag, Hilary Dietz, Daniel Wang, Angela Hirbe, Kristen Ganjoo, Brian Van Tine, Shane Zaid, Aisha Miah, Vicki Keedy, Elizabeth Davis, Nam Bui

Faculty, Staff and Students Publications

Purpose: Brain metastases (BM) in sarcomas occur rarely and are associated with poor prognosis. This study is a large retrospective cohort describing the demographic and clinical characteristics of these patients, treatment strategies, and survival outcomes.

Methods: In total, 81 patients with BM from sarcomas were identified across five sarcoma centers. Demographic data, clinical presentation, and treatment modalities were analyzed.

Results: The most common histologies were leiomyosarcoma (12.3%) and undifferentiated pleomorphic sarcoma (12.3%). The median time from sarcoma diagnosis to brain metastases was 1.9 years. Upon presentation, 88.9% of patients with BM from sarcomas were symptomatic with the most common presenting …


Large-Scale Application Of Clingen-Insight Apc-Specific Acmg/Amp Variant Classification Criteria Leads To Substantial Reduction In Vus, Xiaoyu Yin, Marcy Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas V O Hansen, Marta Pineda, Deborah Ritter, Johan De Dunnen, Emadeldin Hassanin, Wencong Lyman Lin, Ester Borras, Karl Krahn, Margareta Nordling, Alexandra Martins, Khalid Mahmood, Emily Nadeau, Victoria Beshay, Carli Tops, Maurizio Genuardi, Tina Pesaran, Ian M Frayling, Gabriel Capellá, Andrew Latchford, Sean V Tavtigian, Carlo Maj, Sharon E Plon, Marc S Greenblatt, Finlay A Macrae, Isabel Spier, Stefan Aretz Nov 2024

Large-Scale Application Of Clingen-Insight Apc-Specific Acmg/Amp Variant Classification Criteria Leads To Substantial Reduction In Vus, Xiaoyu Yin, Marcy Richardson, Andreas Laner, Xuemei Shi, Elisabet Ognedal, Valeria Vasta, Thomas V O Hansen, Marta Pineda, Deborah Ritter, Johan De Dunnen, Emadeldin Hassanin, Wencong Lyman Lin, Ester Borras, Karl Krahn, Margareta Nordling, Alexandra Martins, Khalid Mahmood, Emily Nadeau, Victoria Beshay, Carli Tops, Maurizio Genuardi, Tina Pesaran, Ian M Frayling, Gabriel Capellá, Andrew Latchford, Sean V Tavtigian, Carlo Maj, Sharon E Plon, Marc S Greenblatt, Finlay A Macrae, Isabel Spier, Stefan Aretz

Faculty, Staff and Students Publications

Pathogenic constitutional APC variants underlie familial adenomatous polyposis, the most common hereditary gastrointestinal polyposis syndrome. To improve variant classification and resolve the interpretative challenges of variants of uncertain significance (VUSs), APC-specific variant classification criteria were developed by the ClinGen-InSiGHT Hereditary Colorectal Cancer/Polyposis Variant Curation Expert Panel (VCEP) based on the criteria of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology (ACMG/AMP). A streamlined algorithm using the APC-specific criteria was developed and applied to assess all APC variants in ClinVar and the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) international reference APC Leiden Open Variation …


Total Retinal Thickness Is An Important Factor In Evaluating Diabetic Retinal Neurodegeneration, Noor-Us-Sabah Ahmad, Kristen Staggers, Kyungmoo Lee, Nitish Mehta, Amitha Domalpally, Benjamin J Frankfort, Yao Liu, Roomasa Channa Nov 2024

Total Retinal Thickness Is An Important Factor In Evaluating Diabetic Retinal Neurodegeneration, Noor-Us-Sabah Ahmad, Kristen Staggers, Kyungmoo Lee, Nitish Mehta, Amitha Domalpally, Benjamin J Frankfort, Yao Liu, Roomasa Channa

Faculty, Staff and Students Publications

OBJECTIVE: Macular retinal nerve fibre layer (mRNFL) and ganglion cell-inner plexiform layer thickness (GC-IPL) measurements are important markers of diabetic retinal neurodegeneration (DRN). In this cross-sectional study, we aimed to quantify the contribution of total retinal thickness (TRT) and other factors in the variation of mRNFL and GC-IPL thickness among participants with diabetes.

METHODS AND ANALYSIS: We used macular-centred spectral domain-optical coherence tomography scans from participants with diabetes in the UK Biobank. Two multiple linear regression models (prior to and after adjusting for TRT) were used to determine factors associated with mRNFL and GC-IPL thicknesses. A p value of less …


Homozygous Variants In Wdr83os Lead To A Neurodevelopmental Disorder With Hypercholanemia, Scott Barish, Sheng-Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille, Marta Biderman Waberski, Tadahiro Mitani, Ilka Huber, Kristian Tveten, Øystein L Holla, Øyvind L Busk, Henry Houlden, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Reza Shervin Badv, Paria Najarzadeh Torbati, Fatemeh Eghbal, Javad Akhondian, Ayat Al Safar, Abdulrahman Alswaid, Giovanni Zifarelli, Peter Bauer, Dana Marafi, Jawid M Fatih, Kevin Huang, Cassidy Petree, Daniel G Calame, Charlotte Von Der Lippe, Fowzan S Alkuraya, Sami Wali, James R Lupski, Gaurav K Varshney, Jennifer E Posey, Davut Pehlivan Nov 2024

Homozygous Variants In Wdr83os Lead To A Neurodevelopmental Disorder With Hypercholanemia, Scott Barish, Sheng-Jia Lin, Reza Maroofian, Alper Gezdirici, Hamoud Alhebby, Aurélien Trimouille, Marta Biderman Waberski, Tadahiro Mitani, Ilka Huber, Kristian Tveten, Øystein L Holla, Øyvind L Busk, Henry Houlden, Ehsan Ghayoor Karimiani, Mehran Beiraghi Toosi, Reza Shervin Badv, Paria Najarzadeh Torbati, Fatemeh Eghbal, Javad Akhondian, Ayat Al Safar, Abdulrahman Alswaid, Giovanni Zifarelli, Peter Bauer, Dana Marafi, Jawid M Fatih, Kevin Huang, Cassidy Petree, Daniel G Calame, Charlotte Von Der Lippe, Fowzan S Alkuraya, Sami Wali, James R Lupski, Gaurav K Varshney, Jennifer E Posey, Davut Pehlivan

Faculty, Staff and Students Publications

WD repeat domain 83 opposite strand (WDR83OS) encodes the 106-aa (amino acid) protein Asterix, which heterodimerizes with CCDC47 to form the PAT (protein associated with ER translocon) complex. This complex functions as a chaperone for large proteins containing transmembrane domains to ensure proper folding. Until recently, little was known about the role of WDR83OS or CCDC47 in human disease traits. However, biallelic variants in CCDC47 were identified in four unrelated families with trichohepatoneurodevelopmental syndrome, characterized by a neurodevelopmental disorder (NDD) with liver dysfunction. Three affected siblings in an additional family share a homozygous truncating WDR83OS variant and a phenotype of …


Systematic Review And Meta-Analysis Of Outcomes In Type 1 Thyroplasty Comparing Silastic To Gore-Tex, Dylan G Vance, David Z Allen, Amy B Leming, Madisyn Cox, Sonya E Fogg, Sameer H Siddiqui, Hallie R Wilson, Andrew G Tritter Nov 2024

Systematic Review And Meta-Analysis Of Outcomes In Type 1 Thyroplasty Comparing Silastic To Gore-Tex, Dylan G Vance, David Z Allen, Amy B Leming, Madisyn Cox, Sonya E Fogg, Sameer H Siddiqui, Hallie R Wilson, Andrew G Tritter

Library Staff Publications

OBJECTIVE: Type 1 Thyroplasty is a well-established procedure used for medializing an immobile vocal fold. Silastic and Gore-Tex are the two most common materials used to accomplish this, but comparative data on their relative efficacy are scarce. We sought to compare outcomes between Silastic and Gore-Tex implants via systematic review and meta-analysis for unilateral vocal fold immobility.

METHODS: We collected available data from PubMed, Embase, and Web of Science on demographics, maximum phonation time (MPT), voice handicap index (VHI-10/30) score, and any other relevant metrics encountered before comparatively evaluating differences in outcomes.

RESULTS: The search yielded 1,534 records with 55 …


Identifying Subsets Of Cancer Patients With An Increased Risk Of Developing Cutaneous Melanoma: A Surveillance, Epidemiology, And End Results-Based Analysis, Thomas Z. Rohan, Jenna L. Mandel, Henry Y. Yang, Lauren Banner, Daniel Joffe, Rachel Zachian, Jaanvi Mehta, Safiyyah Bhatti, Tingting Zhan, Neda Nikbakht Nov 2024

Identifying Subsets Of Cancer Patients With An Increased Risk Of Developing Cutaneous Melanoma: A Surveillance, Epidemiology, And End Results-Based Analysis, Thomas Z. Rohan, Jenna L. Mandel, Henry Y. Yang, Lauren Banner, Daniel Joffe, Rachel Zachian, Jaanvi Mehta, Safiyyah Bhatti, Tingting Zhan, Neda Nikbakht

SKMC Student Presentations and Publications

Cancer survivors have an increased risk of developing second primary malignancies. We aimed to identify whether certain cancers lead to an increased risk of developing melanoma among cancer survivors. We evaluated the risk of developing cutaneous melanoma after the 20 most common cancers in the United States through the Surveillance, Epidemiology, and End Results database. We identified 9 primary cancers linked to increased risk of developing a subsequent cutaneous melanoma: cutaneous melanoma (standardized incidence ratio [SIR] = 9.65), leukemia (SIR = 1.76), non-Hodgkin lymphoma (SIR = 1.33), thyroid cancer (SIR = 1.32), brain and nervous system cancer (SIR = 1.31), …


Validation Of An Artificial Intelligence-Based Prognostic Biomarker In Patients With Oligometastatic Castration-Sensitive Prostate Cancer, Jarey H. Wang, Matthew P. Deek, Adrianna A. Mendes, Yang Song, Amol Shetty, Soha Bazyar, Kim Van Der Eecken, Emmalyn Chen, Timothy N. Showalter, Trevor J. Royce, Tamara Todorovic, Huei-Chung Huang, Scott A. Houck, Rikiya Yamashita, Ana P. Kiess, Daniel Y. Song, Tamara Lotan, Theodore Deweese, Luigi Marchionni, Lei Ren, Amit Sawant, Nicole L. Simone, Alejandro Berlin, Cem Onal, Andre Esteva, Felix Y. Feng, Phuoc T. Tran, Philip Sutera, Piet Ost Nov 2024

Validation Of An Artificial Intelligence-Based Prognostic Biomarker In Patients With Oligometastatic Castration-Sensitive Prostate Cancer, Jarey H. Wang, Matthew P. Deek, Adrianna A. Mendes, Yang Song, Amol Shetty, Soha Bazyar, Kim Van Der Eecken, Emmalyn Chen, Timothy N. Showalter, Trevor J. Royce, Tamara Todorovic, Huei-Chung Huang, Scott A. Houck, Rikiya Yamashita, Ana P. Kiess, Daniel Y. Song, Tamara Lotan, Theodore Deweese, Luigi Marchionni, Lei Ren, Amit Sawant, Nicole L. Simone, Alejandro Berlin, Cem Onal, Andre Esteva, Felix Y. Feng, Phuoc T. Tran, Philip Sutera, Piet Ost

Department of Radiation Oncology Faculty Papers

BACKGROUND: There is a need for clinically actionable prognostic and predictive tools to guide the management of oligometastatic castration-sensitive prostate cancer (omCSPC).

METHODS: This is a multicenter retrospective study to assess the prognostic and predictive performance of a multimodal artificial intelligence biomarker (MMAI; the ArteraAI Prostate Test) in men with omCSPC (n = 222). The cohort also included 51 patients from the STOMP and ORIOLE phase 2 clinical trials which randomized patients to observation versus metastasis-directed therapy (MDT). MMAI scores were computed from digitized histopathology slides and clinical variables. Overall survival (OS) and time to castration-resistant prostate cancer (TTCRPC) were …


Harmonizing Data Across The Accelerating Colorectal Cancer Screening And Follow-Up Through Implementation Science (Accsis) Program To Enhance Data Quality And Promote Data Sharing., Sujha Subramanian, Sarah Kobrin, Sonja Hoover, Sylvia Tan, Alison T. Brenner, Janis E. Campbell, Jennifer Hatcher, Bin Huang, Madeleine Jones, Erin S. Kenzie, Helen Lam, David Liebovitz, Shiraz I. Mishra, Meghan C. O'Leary, Kristine N. Ortwine, V. Shane Pankratz, Electra D. Paskett, Michael Pennell, Amanda F. Petrik, Scott Roesch Nov 2024

Harmonizing Data Across The Accelerating Colorectal Cancer Screening And Follow-Up Through Implementation Science (Accsis) Program To Enhance Data Quality And Promote Data Sharing., Sujha Subramanian, Sarah Kobrin, Sonja Hoover, Sylvia Tan, Alison T. Brenner, Janis E. Campbell, Jennifer Hatcher, Bin Huang, Madeleine Jones, Erin S. Kenzie, Helen Lam, David Liebovitz, Shiraz I. Mishra, Meghan C. O'Leary, Kristine N. Ortwine, V. Shane Pankratz, Electra D. Paskett, Michael Pennell, Amanda F. Petrik, Scott Roesch

Internal Medicine Faculty Publications

BACKGROUND: The purpose of the Accelerating Colorectal Cancer Screening and Follow-up through Implementation Science (ACCSIS) Program, a Cancer Moonshot℠ Initiative, is to support research to build the evidence base on multilevel interventions that increase rates of colorectal cancer screening, follow-up, and referral to care to address disparities in colorectal cancer screening. The National Cancer Institute funded eight Research Projects to implement multilevel interventions to improve colorectal cancer screening among communities who traditionally have been medically underserved. To analyze the impact of ACCSIS across Research Projects, the consortium developed a set of common data elements. The purpose of this paper is …


Evaluation Of Sirtuin 1 As A Predictor Of Cardiovascular Outcomes In Diabetic Patients With Limb-Threatening Ischemia, Federico Biscetti, Maria Margherita Rando, Maria Anna Nicolazzi, Enrica Rossini, Michele Santoro, Flavia Angelini, Roberto Iezzi, Luis H. Eraso, Paul J. Dimuzio, Dario Pitocco, Massimo Massetti, Antonio Gasbarrini, Andrea Flex Nov 2024

Evaluation Of Sirtuin 1 As A Predictor Of Cardiovascular Outcomes In Diabetic Patients With Limb-Threatening Ischemia, Federico Biscetti, Maria Margherita Rando, Maria Anna Nicolazzi, Enrica Rossini, Michele Santoro, Flavia Angelini, Roberto Iezzi, Luis H. Eraso, Paul J. Dimuzio, Dario Pitocco, Massimo Massetti, Antonio Gasbarrini, Andrea Flex

Department of Surgery Faculty Papers

Chronic limb-threatening ischemia (CLTI) significantly increases the risk of major adverse limb events (MALE) and major adverse cardiac events (MACE) after lower extremity revascularization (LER). This study aims to identify novel biomarkers that help to further reduce the risk of postoperative cardiovascular complications. In this prospective, nonrandomized, observational study, baseline serum levels of sirtuin 1 (SIRT1) were assessed in 147 diabetic patients scheduled for LER due to CLTI, and participants were followed for the occurrence of MALE and MACE over 12 months. Fifty-three patients experienced MALE, and 33 experienced MACE within the follow-up period. Lower baseline SIRT1 levels were significantly …


E-Cigarette Switching And Financial Incentives To Promote Combustible Cigarette Cessation Among Adults Accessing Shelter Services: A Pilot Study, Munjireen Sifat, Adam C. Alexander, Michael S. Businelle, Summer G. Frank-Pearce, Laili Kharazi Boozary, Theodore L. Wagener, Jasjit S. Ahluwalia, Darla E. Kendzor Nov 2024

E-Cigarette Switching And Financial Incentives To Promote Combustible Cigarette Cessation Among Adults Accessing Shelter Services: A Pilot Study, Munjireen Sifat, Adam C. Alexander, Michael S. Businelle, Summer G. Frank-Pearce, Laili Kharazi Boozary, Theodore L. Wagener, Jasjit S. Ahluwalia, Darla E. Kendzor

Department of Medical Oncology Faculty Papers

Background: Smoking prevalence among U.S. adults experiencing homelessness is ≥70 %. Interventions are needed to address persisting tobacco disparities.

Methods: Adults who smoked combustible cigarettes (CC) daily (N=60) were recruited from an urban day shelter and randomly assigned to an e-cigarette switching intervention with or without financial incentives for carbon monoxide (CO)-verified CC abstinence (EC vs. EC+FI). All participants received an e-cigarette device and nicotine pods during the first 4 weeks post-switch; and those in the EC+FI group also received escalating weekly incentives for CC abstinence during the same period. Key follow-ups were conducted at 4- and 8-weeks …


Management Of Aorto-Right Ventricular Fistulas After Tavr, Ricardo Chia, Chamaka Kalutota, Kerry Cao, Steven Douedi, William Chang, Dominic Pinciotti, Mohammad Beizaeipour, Jennifer Joiner, Daniel Ice, Ronald Ross, Richard Kovach, Chunguang Chen, Muhammad Raza Nov 2024

Management Of Aorto-Right Ventricular Fistulas After Tavr, Ricardo Chia, Chamaka Kalutota, Kerry Cao, Steven Douedi, William Chang, Dominic Pinciotti, Mohammad Beizaeipour, Jennifer Joiner, Daniel Ice, Ronald Ross, Richard Kovach, Chunguang Chen, Muhammad Raza

Division of Cardiology Faculty Papers

This clinical case series reviews the diagnosis and management of aorto-right ventricular fistulas post-transcatheter aortic valve replacement, highlighting 3 cases. We emphasize early detection, individualized treatment strategies, and the role of multidisciplinary heart teams in achieving favorable outcomes. Comprehensive imaging and procedural planning are crucial for successful intervention and management of this rare complication.


Lactobacillus Rhamnosus Modulates Murine Neonatal Gut Microbiota And Inflammation Caused By Pathogenic Escherichia Coli., Hao Xuan, Shahid Umar, Cuncong Zhong, Wei Yu, Ishfaq Ahmed, Joshua Wheatley, Venkatesh Sampath, Susana Chavez-Bueno Nov 2024

Lactobacillus Rhamnosus Modulates Murine Neonatal Gut Microbiota And Inflammation Caused By Pathogenic Escherichia Coli., Hao Xuan, Shahid Umar, Cuncong Zhong, Wei Yu, Ishfaq Ahmed, Joshua Wheatley, Venkatesh Sampath, Susana Chavez-Bueno

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Pathogenic Escherichia coli strains produce neonatal septicemia after colonizing the neonatal gut. While the probiotic Lactobacillus rhamnosus GG (LGG) effectively reduces neonatal sepsis, LGG's effects on the neonatal intestinal microbiota alterations and inflammation triggered by E. coli are incompletely understood. We hypothesized that LGG significantly modulates the specific neonatal gut microbial populations changes and the inflammatory response elicited by the enteral introduction of septicemia-producing E. coli. To test this hypothesis, newborn rats were pretreated orally with LGG or placebo prior to infection with the neonatal E. coli septicemia clinical isolate SCB34. Amplicon 16S rRNA gene sequencing was performed on …


Skn-1 Activation During Infection Of Caenorhabditis Elegans Requires Cdc-48 And Endoplasmic Reticulum Proteostasis, Carolaing Gabaldón, Ozgur Karakuzu, Danielle A Garsin Nov 2024

Skn-1 Activation During Infection Of Caenorhabditis Elegans Requires Cdc-48 And Endoplasmic Reticulum Proteostasis, Carolaing Gabaldón, Ozgur Karakuzu, Danielle A Garsin

Faculty, Staff and Student Publications

During challenge of Caenorhabditis elegans with human bacterial pathogens such as Pseudomonas aeruginosa and Enterococcus faecalis, the elicited host response can be damaging if not properly controlled. The activation of Nrf (nuclear factor erythroid-related factor)/CNC (Cap-n-collar) transcriptional regulators modulates the response by upregulating genes that neutralize damaging molecules and promote repair processes. Activation of the C. elegans Nrf ortholog, SKN-1, is tightly controlled by a myriad of regulatory mechanisms, but a central feature is an activating phosphorylation accomplished by the p38 mitogen-activated kinase (MAPK) cascade. In this work, loss of CDC-48, an AAA+ ATPase, was observed to severely compromise SKN-1 …


Successful Transcatheter Mitral Valve Mass Extraction With Complete Resolution Of The Severe Mitral Regurgitation, Hussam Al Hennawi, Ahmad Abulshamat, Shaurya Srivastava, Mohammed Qintar Nov 2024

Successful Transcatheter Mitral Valve Mass Extraction With Complete Resolution Of The Severe Mitral Regurgitation, Hussam Al Hennawi, Ahmad Abulshamat, Shaurya Srivastava, Mohammed Qintar

Abington Jefferson Health Papers

Interest has arisen in exploring the off-label application of left-sided percutaneous mechanical aspiration, where conventional management strategies may not suffice. Percutaneous mechanical aspiration has been shown to be effective as a diagnostic and therapeutic intervention in select patients with infective endocarditis. This paper hereby reports the first case of a successful transeptal large bore manual aspiration device (AlphaVac; Angiodynamics) for nonbacterial thrombotic endocarditis with total resolution of associated severe mitral valve regurgitation.


Automatically Extracting Social Determinants Of Health For Suicide: A Narrative Literature Review, Annika M Schoene, Suzanne Garverich, Iman Ibrahim, Sia Shah, Benjamin Irving, Clifford C Dacso Nov 2024

Automatically Extracting Social Determinants Of Health For Suicide: A Narrative Literature Review, Annika M Schoene, Suzanne Garverich, Iman Ibrahim, Sia Shah, Benjamin Irving, Clifford C Dacso

Faculty, Staff and Students Publications

Suicide is a complex phenomenon that is often not preceded by a diagnosed mental health condition, therefore making it difficult to study and mitigate. Artificial Intelligence has increasingly been used to better understand Social Determinants of Health factors that influence suicide outcomes. In this review we find that many studies use limited SDoH information and minority groups are often underrepresented, thereby omitting important factors that could influence risk of suicide.


Test Smart, Treat Smart-Using Clinician Feedback To Adapt A Catheter-Associated Urinary Tract Infection Intervention For Spinal Cord Injury, Hilary Touchett, Kelley Arredondo, Casey Hines-Munson, Ivy Poon, Sally Ann Holmes, Barbara W Trautner, Felicia Skelton Nov 2024

Test Smart, Treat Smart-Using Clinician Feedback To Adapt A Catheter-Associated Urinary Tract Infection Intervention For Spinal Cord Injury, Hilary Touchett, Kelley Arredondo, Casey Hines-Munson, Ivy Poon, Sally Ann Holmes, Barbara W Trautner, Felicia Skelton

Faculty, Staff and Students Publications

Background: Catheter-associated urinary tract infection (CAUTI) prevention is a major target for hospital quality metrics because it is linked to increased morbidity, mortality, and health care costs. Health care systems use strict protocols surrounding catheterization and maintenance, which often disregard the clinical needs of special populations (eg, spinal cord injury [SCI]). However, for populations that rely on chronic instrumentation of the bladder, asymptomatic (ie, nonpathogenic) bacterial colonization in the bladder is common but not linked to adverse outcomes. Additionally, alterations in neurologic and sensory function after SCI make it difficult for clinicians to discern asymptomatic bacteriuria from acute urinary tract …


What Makes An Effective Chief Of Pediatric Cardiology: Insights From Chiefs Of North American Pediatric Programs, Michael E. Kim, Wayne Franklin, Anne M. Dubin, Jeffrey J. Kim, Shubhayan Sanatani, R. Krishna Kumar, Shubhika Srivastava, Thomas R. Kimball, Mark Lewin, Joseph Rossano, Colin J. Mcmahon Nov 2024

What Makes An Effective Chief Of Pediatric Cardiology: Insights From Chiefs Of North American Pediatric Programs, Michael E. Kim, Wayne Franklin, Anne M. Dubin, Jeffrey J. Kim, Shubhayan Sanatani, R. Krishna Kumar, Shubhika Srivastava, Thomas R. Kimball, Mark Lewin, Joseph Rossano, Colin J. Mcmahon

Department of Medicine Faculty Papers

BACKGROUND: Although the position of a pediatric cardiology chief is often seen as the apex of one's academic career, its roles, responsibilities, and qualifications are not well defined in the literature. This study was done to gain further insight of the role and attributes of a pediatric cardiology chief by surveying those who are currently serving the position across North American centers.

METHODS AND RESULTS: This was a mixed-methods study with a survey given to North American pediatric cardiology chiefs at programs with fellowship training programs. The survey was a semistructured questionnaire that was independently reviewed by 3 cardiologists. Smaller …


Gpr56: Gpcr As A Guardian Against Ferroptosis, Yuelong Yan, Li Zhuang, Boyi Gan Nov 2024

Gpr56: Gpcr As A Guardian Against Ferroptosis, Yuelong Yan, Li Zhuang, Boyi Gan

Faculty, Staff and Student Publications

Transmembrane receptor proteins are proficient in sensing external signals and initiating downstream pathways to control cell survival. Lin et al. demonstrated that GPR56, a G-protein-coupled receptor, can be activated by its agonist to suppress ferroptosis-a form of cell death-and effectively mitigate ferroptosis-associated liver damage.


Mitral Annular Disjunction In Heritable Thoracic Aortic Disease: Insights From The Montalcino Aortic Consortium, Kishan L Asokan, Jennifer R Landes, Wannes Renders, Laura Muiño Mosquera, Julie De Backer, David W Jantzen, Anji T Yetman, Gisela Teixido-Tura, Arturo Evangelista, Richmond Jeremy, Edward G Jones, Shaine Morris, Tam Doan, Maral Ouzonian, Alan Braverman, Guillaume Jondeau, Olivier Milleron, Dianna M Milewicz, Siddharth K Prakash Nov 2024

Mitral Annular Disjunction In Heritable Thoracic Aortic Disease: Insights From The Montalcino Aortic Consortium, Kishan L Asokan, Jennifer R Landes, Wannes Renders, Laura Muiño Mosquera, Julie De Backer, David W Jantzen, Anji T Yetman, Gisela Teixido-Tura, Arturo Evangelista, Richmond Jeremy, Edward G Jones, Shaine Morris, Tam Doan, Maral Ouzonian, Alan Braverman, Guillaume Jondeau, Olivier Milleron, Dianna M Milewicz, Siddharth K Prakash

Faculty, Staff and Student Publications

Background: Mitral annular disjunction (MAD), posterior displacement of the mitral valve leaflet hinge point, predisposes to arrhythmias or sudden cardiac death. We evaluated the burden of MAD, mitral valve prolapse (MVP), and mitral regurgitation (MR) by heritable thoracic aortic disease gene in a cross-sectional analysis of 2014-2023 data in the Montalcino Aortic Consortium registry.

Methods and results: MAD was determined by direct measurement of echocardiographic images. MR and MVP were defined according to current clinical guidelines. Associations were evaluated using χ2 or Fisher exact tests. MR and MVP were enriched in Montalcino Aortic Consortium participants (672) with pathogenic variants (PV) …


Gene Discovery From Microbial Gene Libraries I: Protection Against Reactive Oxygen Species-Driven Dna Damage, John C Taylor, Carmen Gu Liu, James D Chang, Brianna E Thompson, Anthony W Maresso Nov 2024

Gene Discovery From Microbial Gene Libraries I: Protection Against Reactive Oxygen Species-Driven Dna Damage, John C Taylor, Carmen Gu Liu, James D Chang, Brianna E Thompson, Anthony W Maresso

Faculty, Staff and Students Publications

Reactive oxygen species (ROS) pose a lethal risk for all life forms by causing damage to cell processes, genome-wide DNA damage-driving mutation, replicative instability, and death. Thus, the development of mechanisms to resist or repair ROS-induced DNA damage is critical for the reliable replication of nucleic acids. DNA repair and protection mechanisms have been discovered in all forms of life. However, the vast array of microbes that may harbor novel repair or protection mechanisms, especially bacterial viruses, have not been adequately assessed. Here, we screened a microbial gene library composed primarily of phage open reading frames (ORFs) to uncover elements …


White Matter Hyperintensities And Mild Tbi In Post-9/11 Veterans And Service Members, David F Tate, Erin D Bigler, Gerald E York, Mary R Newsome, Brian A Taylor, Andrew R Mayer, Mary Jo Pugh, Angela P Presson, Zhining Ou, Elizabeth S Hovenden, Josephine Dimanche, Tracy J Abildskov, Rajan Agarwal, Heather G Belanger, Aaron M Betts, Timothy Duncan, Blessen C Eapen, Carlos A Jaramillo, Michael Lennon, Jennifer E Nathan, Randall S Scheibel, Matthew B Spruiell, William C Walker, Elisabeth A Wilde Nov 2024

White Matter Hyperintensities And Mild Tbi In Post-9/11 Veterans And Service Members, David F Tate, Erin D Bigler, Gerald E York, Mary R Newsome, Brian A Taylor, Andrew R Mayer, Mary Jo Pugh, Angela P Presson, Zhining Ou, Elizabeth S Hovenden, Josephine Dimanche, Tracy J Abildskov, Rajan Agarwal, Heather G Belanger, Aaron M Betts, Timothy Duncan, Blessen C Eapen, Carlos A Jaramillo, Michael Lennon, Jennifer E Nathan, Randall S Scheibel, Matthew B Spruiell, William C Walker, Elisabeth A Wilde

Faculty, Staff and Student Publications

Introduction: The neurobehavioral significance of white matter hyperintensities (WMHs) seen on magnetic resonance imaging after traumatic brain injury (TBI) remains unclear, especially in Veterans and Service Members with a history of mild TBI (mTBI). In this study, we investigate the relation between WMH, mTBI, age, and cognitive performance in a large multisite cohort from the Long-term Impact of Military-relevant Brain Injury Consortium-Chronic Effects of Neurotrauma Consortium.

Materials and methods: The neuroimaging and neurobehavioral assessments for 1,011 combat-exposed, post-9/11 Veterans and Service Members (age range 22-69 years), including those with a history of at least 1 mTBI (n = 813; median …


Trends In Transcatheter Versus Surgical Aortic Valve Replacement Outcomes In Patients With Low-Surgical Risk: A Systematic Review And Meta-Analysis Of Randomized Trials, Sina Kazemian, Parisa Fallahtafti, Mohammad Sharifi, Negin Sadat Hosseini Mohammadi, Hamidreza Soleimani, Arman Soltani Moghadam, Elaheh Karimi, Yaser Sattar, Yaser Jenab, Mehdi Mehrani, Alimohammad Hajizeinali, Mina Iskander, Mehrshad Fathian Sabet, Negar Salehi, Karim Al-Azizi, Diaa Hakim, Mahboob Alam, Kaveh Hosseini Nov 2024

Trends In Transcatheter Versus Surgical Aortic Valve Replacement Outcomes In Patients With Low-Surgical Risk: A Systematic Review And Meta-Analysis Of Randomized Trials, Sina Kazemian, Parisa Fallahtafti, Mohammad Sharifi, Negin Sadat Hosseini Mohammadi, Hamidreza Soleimani, Arman Soltani Moghadam, Elaheh Karimi, Yaser Sattar, Yaser Jenab, Mehdi Mehrani, Alimohammad Hajizeinali, Mina Iskander, Mehrshad Fathian Sabet, Negar Salehi, Karim Al-Azizi, Diaa Hakim, Mahboob Alam, Kaveh Hosseini

Faculty, Staff and Students Publications

Background: Limited data exist on long-term outcomes after transcatheter aortic valve replacement (TAVR) and surgical aortic valve replacement (SAVR). This meta-analysis aims to elucidate outcome trends following TAVR versus SAVR in patients with severe aortic stenosis and low-surgical risk.

Methods and results: A systematic search was conducted in PubMed, Embase, Scopus, and the Cochrane Library databases from inception until May 2024, to identify studies comparing TAVR versus SAVR in patients with low-surgical risk (Society of Thoracic Surgeons predicted risk of mortality score < 4%). The primary outcome was all-cause mortality. Secondary outcomes included cardiovascular mortality, stroke, disabling stroke, rehospitalization, myocardial infarction, aortic valve reintervention, permanent pacemaker implantation, and new-onset atrial fibrillation. Binary random-effects models were used to compare the risk of each outcome across various follow-up intervals and the risk of bias was assessed using the Cochrane Collaboration's Risk of Bias-2 tool. The meta-analysis included 6 randomized trials including 4682 patients. TAVR was associated with a lower risk of all-cause mortality than SAVR in the 30-day (hazard ratio [HR: 0.45] [95% CI: 0.26-0.77], I2: 0%) and 30-day to 1-year (HR: 0.55 [95% CI: 0.37-0.81], I2: 16%) follow-ups. However, the …


Activation Of A Gpcr, Orl1 Receptor: A Novel Therapy To Prevent Heart Failure Progression, Saliha S Pathan, Aarthi Pugazenthi, Beverly R E A Dixon, Theodore G Wensel, Todd K Rosengart, Megumi Mathison Nov 2024

Activation Of A Gpcr, Orl1 Receptor: A Novel Therapy To Prevent Heart Failure Progression, Saliha S Pathan, Aarthi Pugazenthi, Beverly R E A Dixon, Theodore G Wensel, Todd K Rosengart, Megumi Mathison

Faculty, Staff and Students Publications

The number of ischemic heart failure (HF) patients is growing dramatically worldwide. However, there are at present no preventive treatments for HF. Our previous study showed that Gata4 overexpression improved cardiac function after myocardial infarction in rat hearts. We also found that Gata4 overexpression significantly increased the expression of a Pnoc gene, an endogenous ligand for the cell membrane receptor ORL1. We hypothesized that the activation of the ORL1 receptor would suppress HF in a rat ischemic heart model. Adult Sprague Dawley rats (8 weeks old, six males and six females) underwent left anterior descending coronary artery ligation. Three weeks …


How Did Dat Happen? A Coombs Negative Delayed Hemolytic Transfusion Reaction In A Patient With Myelodysplastic Syndrome: A Case Report, Aniket Vijay Rao Dr, Aditya Sanjeevi, Daniel Jose Idoate, Nagesh Jadhav, Basil Verghese, Himal Kharel Nov 2024

How Did Dat Happen? A Coombs Negative Delayed Hemolytic Transfusion Reaction In A Patient With Myelodysplastic Syndrome: A Case Report, Aniket Vijay Rao Dr, Aditya Sanjeevi, Daniel Jose Idoate, Nagesh Jadhav, Basil Verghese, Himal Kharel

Advances in Clinical Medical Research and Healthcare Delivery

Delayed hemolytic transfusion reactions (DHTRs) present significant challenges in diagnosis and management despite advancements in pre-transfusion testing. We report a case of a 76-year-old female with myelodysplastic syndrome (MDS) who developed severe hemolytic anemia following a seemingly compatible blood transfusion and appropriate pretransfusion testing. Evaluation revealed characteristics consistent with DHTR. Diagnostic uncertainty arose due to a negative Direct Antiglobulin Test (DAT) in the setting of a concomitant Vitamin B-12 deficiency. She was supported with prednisone and B12 supplementation. We discuss challenges in diagnosis, including the limitation of DAT, and propose strategies for comprehensive antibody identification. The case underscores the importance …


Could Sigmoid Diverticulitis, Drug-Induced Liver Injury, And Drug-Induced Pancreatitis Co-Occur?, Rutwik Pradeep Sharma, Ryan Tam, Michael Labuzetta, Richard Alweis Nov 2024

Could Sigmoid Diverticulitis, Drug-Induced Liver Injury, And Drug-Induced Pancreatitis Co-Occur?, Rutwik Pradeep Sharma, Ryan Tam, Michael Labuzetta, Richard Alweis

Advances in Clinical Medical Research and Healthcare Delivery

Sigmoid diverticulitis is a leading cause of gastrointestinal pathology etiology, which causes hospital admissions in Western society. Recent studies have shown its prevalence to be 1-4%. Drug-induced liver injury (DILI) is a primary cause of acute liver failure in the West. The incidence of DILI is between 14-19 cases per 100,000 population. The prevalence of drug-induced pancreatitis (DIP) is 2-5%, although this is hard to estimate given the lack of large-scale studies. Sulfasalazine is a disease-modifying antirheumatic drug that is indicated for the treatment of chronic inflammatory diseases such as rheumatoid arthritis and ulcerative colitis. It has been associated …


Cardiac Arrest Following Svc Intravascular Stenting: A Case Report, Afrah Ali, Shahtaj Shah, Varun Mehta, Lubna Ziauddin, Asma Khan, Sameen Khurshid, Fawaz Ali Nov 2024

Cardiac Arrest Following Svc Intravascular Stenting: A Case Report, Afrah Ali, Shahtaj Shah, Varun Mehta, Lubna Ziauddin, Asma Khan, Sameen Khurshid, Fawaz Ali

Advances in Clinical Medical Research and Healthcare Delivery

Superior vena cava (SVC) syndrome is a known collection of symptoms caused by obstruction of blood flow through the superior vena cava. Symptoms notably seen include difficulty breathing, coughing, hoarse voice, and swelling of the head, neck, and arm. It is most commonly seen secondary to malignancy from tumor infiltration of the vessel wall and is frequently associated with lung cancer due to anatomic location.

Treatment of SVC syndrome largely depends on severity of symptoms. While treatment of underlying cause is considered first line, intravascular stenting is also commonly considered in life threatening cases and for symptomatic relief.

We report …