Digital Commons Network^™

Alert Design In The Real World: A Cross-Sectional Analysis Of Interruptive Alerting At 9 Academic Pediatric Health Systems, Swaminathan Kandaswamy, Julia K W Yarahuan, Elizabeth A Dobler, Matthew J Molloy, Lindsey A Knake, Sean M Hernandez, Anne A Fallon, Lauren M Hess, Allison B Mccoy, Regine M Fortunov, Eric S Kirkendall, Naveen Muthu, Evan W Orenstein, Adam C Dziorny, Juan D Chaparro

Faculty, Staff and Students Publications

Objective: To assess the prevalence of recommended design elements in implemented electronic health record (EHR) interruptive alerts across pediatric care settings.

Materials and methods: We conducted a 3-phase mixed-methods cross-sectional study. Phase 1 involved developing a codebook for alert content classification. Phase 2 identified the most frequently interruptive alerts at participating sites. Phase 3 applied the codebook to classify alerts. Inter-rater reliability (IRR) for the codebook and descriptive statistics for alert design contents were reported.

Results: We classified alert content on design elements such as the rationale for the alert's appearance, the hazard of ignoring it, directive versus informational content, …

Variability In Treatment Of Utis In Children With Genitourinary Anomalies In Children's Hospitals, Catherine S Forster, Alexis C Wood, Stephanie Davis-Rodriguez, Sanyukta Desai, Pearl W Chang, Michael J Tchou, John M Morrison, Rana F Hamdy, Vijaya Vemulakonda, Patrick W Brady, Cynthia Abou Zeid, Sowdhamini S Wallace, Uti In Children With Cakut Study Group

Faculty, Staff and Students Publications

Objective: In children with urinary tract anomalies, febrile urinary tract infections (UTIs) are associated with increased risks of sepsis, hospitalization, and kidney injury. However, the best treatment strategies are unknown. We aimed to describe antibiotic treatment practices and outcomes for UTIs in children with urinary tract anomalies and evaluate whether variability in UTI treatment exists between hospitals.

Methods: We conducted a multicenter retrospective cohort study of children seen in emergency departments (EDs) in 6 free-standing US children's hospitals from January 1, 2017, through December 31, 2018. We included children aged 0-17 years with an anatomic or functional urinary tract anomaly …

Inborn Errors Of Immunity Reveal Molecular Requirements For Generation And Maintenance Of Human Cd4+ Il-9-Expressing Cells, Geetha Rao, Corinne D Mack, Tina Nguyen, Natalie Wong, Kathryn Payne, Lisa Worley, Paul E Gray, Melanie Wong, Peter Hsu, Michael O Stormon, Kahn Preece, Daniel Suan, Michael O'Sullivan, Annaliesse K Blincoe, Jan Sinclair, Satoshi Okada, Sophie Hambleton, Peter D Arkwright, Kaan Boztug, Polina Stepensky, Megan A Cooper, Liliana Bezrodnik, Kari C Nadeau, Hassan Abolhassani, Roshini S Abraham, Mikko R J Seppänen, Vivien Béziat, Jacinta Bustamante, Lisa R Forbes Satter, Jennifer W Leiding, Isabelle Meyts, Emmanuelle Jouanguy, Stéphanie Boisson-Dupuis, Gulbu Uzel, Anne Puel, Jean-Laurent Casanova, Stuart G Tangye, Cindy S Ma

Faculty, Staff and Students Publications

Background: CD4+ T cells play essential roles in adaptive immunity. Distinct CD4+ T-cell subsets-TH1, TH2, TH17, TH22, T follicular helper, and regulatory T cells-have been identified, and their contributions to host defense and immune regulation are increasingly well defined. IL-9-producing TH9 cells were first described in 2008 and appear to play both protective and pathogenic roles in human immunity. However, key requirements for generating human TH9 cells remain incompletely defined.

Objective: We sought to define signaling pathways that regulate IL-9 production by human CD4+ T cells.

Methods: Human naive and memory CD4+ T cells were cultured under different conditions, and …

Guideline-Directed Medical Therapy And Outcomes In The Ischemia Trial, David J Maron, Jonathan D Newman, Rebecca Anthopolos, Ying Lu, Susanna Stevens, William E Boden, Kreton Mavromatis, Jason Linefsky, Rajesh G Nair, Olga Bockeria, Gilbert Gosselin, Gian P Perna, Elena Demchenko, David Foo, Michael D Shapiro, Mary Ann Champagne, Christie Ballantyne, Peter Mccullough, Jose Luis Lopez-Sendon, Frank Rockhold, Frank Harrell, Yves Rosenberg, Gregg W Stone, Sripal Bangalore, Harmony R Reynolds, John A Spertus, Judith S Hochman

Faculty, Staff and Students Publications

Background: Guideline-directed medical therapy (GDMT) with multiple risk factor goals is recommended for patients with chronic coronary disease (CCD), yet achieving all GDMT goals is uncommon. The relative importance of these goals and timing of their attainment on cardiovascular events is uncertain.

Objectives: This study aims to describe the relationship between achieving specific GDMT goals, when they are achieved, and clinical outcomes.

Methods: This was an observational study of participants with CCD in the ISCHEMIA (International Study of Comparative Health Effectiveness with Medical and Invasive Approaches) trial. The primary outcome was cardiovascular (CV) death or myocardial infarction (MI). GDMT goals …

Demographic And Clinical Risk Factors Of Developing Clinically Recognized Varicose Veins In Older Adults, Yejin Mok, Shoshana H Ballew, Anna Kucharska-Newton, Kenneth Butler, Peter Henke, Pamela L Lutsey, Maya Salameh, Ron C Hoogeveen, Christie M Ballantyne, Elizabeth Selvin, Kunihiro Matsushita

Faculty, Staff and Students Publications

INTRODUCTION: Varicose veins are common in older adults and are associated with adverse clinical outcomes such as deep venous thrombosis. Established risk factors for varicose veins include female sex, height, and obesity, but other risk factors are relatively uncharacterized.

METHODS: This was a prospective cohort analysis of 6,241 participants aged 66-70 years from the Atherosclerosis Risk in Communities (ARIC) Study. Incident varicose veins were defined as two outpatient encounters (at least a week apart) or inpatient diagnoses through 2018 with ICD-9 code 454 or ICD-10 code I83. Participants with a history of clinically recognized varicose veins at baseline were excluded. …

An Equitable End: Meeting The Needs Of Queer Families Within Deathcare, Nyssa Peck

University Honors Theses

This thesis seeks to explore end-of-life care experiences of queer families, focusing on interactions with palliative and hospice caregivers. Currently, end-of-life (EOL) practitioners in institutional and medical care settings are often poorly equipped to interact with queer families due to inadequate cultural training models, personal biases, and ignorance regarding the queer identities of their clients. This manifests in substantial inequities within deathcare systems regarding the accommodation of the unique needs of queer familial structures. Drawing upon multidisciplinary scholarship, I sought to examine these needs, which diverge from that of heterosexual families due to queer families’ absence of legal protections and …

Comparison Between Dynamic Models For Predicting Response To Corticosteroids In Alcohol-Associated Hepatitis: A Global Cohort Study, Francisco Idalsoaga, Luis Antonio Díaz, Leonardo Guizzetti, Winston Dunn, Heer Mehta, Jorge Arnold, Gustavo Ayares, Rokhsana Mortuza, Gurpreet Mahli, Alvi H Islam, Shiv K Sarin, Rakhi Maiwall, Wei Zhang, Steve Qian, Douglas Simonetto, Ashwani K Singal, Mohamed A Elfeki, Carolina Ramirez-Cadiz, Joaquín Cabezas, Victor Echavarría, Meritxell Ventura Cots, María Fátima Higuera-De La Tijera, Juan G Abraldes, Mustafa Al-Karaghouli, Prasun K Jalal, Mohamad Ali Ibrahim, Guadalupe García-Tsao, Daniela Goyes, Lubomir Skladaný, Daniel J Havaj, Karolina Sulejova, Svetlana Adamcova Selcanova, Diego Rincón, Vijay H Shah, Patrick S Kamath, Marco Arrese, Ramon Bataller, Juan Pablo Arab

Faculty, Staff and Students Publications

Several dynamic models predict mortality and corticosteroid response in alcohol-associated hepatitis (AH), yet no consensus exists on the most effective model. This study aimed to assess predictive models for corticosteroid response and short-term mortality in severe AH within a global cohort. We conducted a multi-national study of patients with severe AH treated with corticosteroids for at least 7 days, enrolled between 2009 and 2019. Dynamic models-Lille-4, Lille-7, trajectory of serum bilirubin (TSB), and neutrophil-to-lymphocyte ratio (NLR)-were used to estimate 30- and 90-day mortality. Lille-7 demonstrated the highest accuracy for both 30- and 90-day mortality.

Moderate Alcohol-Associated Hepatitis: A Real-World Multicenter Study, Francisco Idalsoaga, Luis Antonio Díaz, Winston Dunn, Heer Mehta, Karen Muñoz, Vicente Caldentey, Jorge Arnold, Gustavo Ayares, Rokhsana Mortuza, Shiv K Sarin, Rakhi Maiwall, Wei Zhang, Steve Qian, Douglas Simonetto, Ashwani K Singal, Mohamed A Elfeki, Carolina Ramirez-Cadiz, Gurpreet Malhi, Adan Ahmed, Hoomam Homsi, Zinia Abid, Joaquín Cabezas, Victor Echavarría, Maria Poca, German Soriano, Berta Cuyas, Meritxell Ventura Cots, María Fátima Higuera-De La Tijera, Maria Ayala-Valverde, Diego Perez, Jaime Gomez, Juan G Abraldes, Mustafa Al-Karaghouli, Prasun K Jalal, Mohamad Ali Ibrahim, Guadalupe García-Tsao, Daniela Goyes, Lubomir Skladaný, Daniel J Havaj, Karolina Sulejova, Svetlana Adamcova Selcanova, Diego Rincón, Kristina R Chacko, Juan C Restrepo, Pamela Yaquich, Luis G Toro, Vijay Shah, Marco Arrese, Patrick S Kamath, Ramon Bataller, Juan Pablo Arab

Faculty, Staff and Students Publications

Background: Severe alcohol-associated hepatitis (sAH) is a well-characterized disease with high short-term mortality. However, there is limited research on those with a "less severe condition" (moderate AH). This study aims to characterize in-depth patients with moderate AH (mAH), including the performance of mortality scoring systems, key prognostic factors, and survival over time.

Methods: A multicenter retrospective cohort study (2009-2019) included patients with mAH (MELD score ≤20 at admission). Cox regression and receiver operating characteristic curves with AUC were used for analysis.

Results: We included 1845 patients with AH (20 centers, 8 countries) between 2009 and 2019. mAH was defined as …

Words Matter: Destigmatizing The Language Of Medicine Through Research, Training, And Future Directions For Emergency Medicine, Natalie Strokes, Richard Sapp, Meta Carroll, Elizabeth Maxwell Hovis, Mary Mclean, Shannon Markus, Aaryn Hammond, Rosemarie Diaz, Ryan E Tsuchida, Marcia Perry, Edgardo Ordonez

Faculty, Staff and Students Publications

Background: In emergency medicine (EM), language choice significantly impacts patient care and can potentially cause harm, dehumanize patients, and introduce bias. Stigmatizing language in medical settings can affect patient dignity, trust, and outcomes. Despite its importance, there is limited education on avoiding stigmatizing language in EM. This concept paper addresses the need to raise awareness and develop strategies for use of inclusive language in the emergency department (ED).

Methods: A didactic session titled "Words Matter: Destigmatizing the Language of Medicine" was developed and presented at the 2024 Society for Academic Emergency Medicine (SAEM) Annual Meeting. The session involved a collaborative …

Clinical Management And Therapeutic Optimization Of Patients With Heart Failure With Reduced Ejection Fraction And Low Blood Pressure. A Clinical Consensus Statement Of The Heart Failure Association (Hfa) Of The Esc, Hadi Skouri, Nicolas Girerd, Luca Monzo, Mark C Petrie, Michael Böhm, Marianna Adamo, Wilfried Mullens, Gianluigi Savarese, Mehmet Birhan Yilmaz, Offer Amir, Antoni Bayes-Genis, Biykem Bozkurt, Javed Butler, Ovidiu Chioncel, Alexandre Mebazaa, Jose L Merino, Brenda Moura, Piotr Ponikowski, Petar Seferovic, Giuseppe M C Rosano, Marco Metra

Faculty, Staff and Students Publications

Despite major advancements in heart failure (HF) management and guideline recommendations over the past two decades, real-world evidence highlights suboptimal implementation of guideline-directed medical therapy (GDMT) for HF with reduced ejection fraction (HFrEF). Low blood pressure (BP) is common in HFrEF patients and represents a major perceived barrier to implementing life-saving treatments in clinical practice, as physicians are often concerned about symptomatic hypotension and its consequences. Although low BP can be seen in those hospitalized with signs of shock, the most common scenario involves non-severe, asymptomatic hypotension in patients receiving foundational therapy for HFrEF, where premature down-titration or discontinuation of …

The Pamela Anderson Exception: How The Public Figure Doctrine Makes Involuntary Pornography A Subject Of Public Concern In Congress’S Revenge Porn Statute, Jared Kossover

Vanderbilt Law Review

Congress’s chosen remedy for the proliferation of online revenge porn has a design flaw. The Violence Against Women Reauthorization Act, codified in 15 U.S.C. § 6851, provides a civil right, enforceable in federal court, to victims of nonconsensual pornography. However, exceptions for matters within the “public concern,” written into the statute with the First Amendment in mind, weaken the force of the Act and threaten to make its proscriptions a nullity. This Note calls on Congress to narrow the public concern exception in the Violence Against Women Reauthorization Act to include only matters of political significance. Such an amendment will …

Understanding Brady Violations, Jennifer M. Mcaward

Vanderbilt Law Review

This largest-ever study of adjudicated violations of Brady v. Maryland provides a detailed and nuanced understanding of who suppresses material evidence in criminal cases, as well as why, how, where, and how often. Its findings complicate the conventional wisdom that Brady violations are the work of nefarious prosecutors who intentionally withhold material evidence from criminal defendants. While it is true that “bad faith” permeates this area of constitutional noncompliance, a substantial minority of Brady cases stem from “good faith” errors by prosecutors and suppression by law enforcement officers. Mostviolations occur in a small number of states, and most often, state …

Energizing Federal Action Toward A More Coherent National Nuclear Waste Policy, Sydney C. Schoonover

Vanderbilt Law Review

Nuclear power offers the United States one viable path toward decarbonization of the energy sector as the only zero-emission energy source capable of baseload generation. Despite the clear climatic, economic, and energy independence benefits of expanding reliance on nuclear power and the emergence of cheaper, safer, and more efficient advanced reactor technology that has lowered barriers to adoption, buildout of nuclear generation capacity faces impediments. The lack of a comprehensive national nuclear waste management strategy is perhaps the most significant obstacle to the siting of new nuclear power facilities. Currently, due to the federal government’s failure to establish a geologic …

Words Of Advice: How To Write The Story Of A Patient For A Problem-Based Learning Session In A Healthcare Education Program, Andrew D Bergemann, Matthew Mcmillin, Miriah C Gillispie-Taylor, Gareth Gingell, R Taylor Surles, Rachel Wallace

Faculty and Staff Publications

Medical education is in the process of a pedagogical revolution. Traditional lectures are playing a progressively smaller role, with more of the content being delivered through student-centered small-group sessions. Problem-based learning (PBL) has become a centerpiece of education for many medical schools, in large part because of its focus on the learners identifying their own knowledge gaps. As junior scientists seek faculty appointments in institutions focused on healthcare education, they will find that skills in PBL are valued by the academic community. Among the necessary skills is the capability to lead efforts in PBL case writing. The cases, each of …

Anesthetic Considerations For The Transsphenoidal Resection Of A Pituitary Tumor In An Acromegalic Patient: A Case Report, Kennedy P Kirkpatrick, Anvinh Nguyen

Faculty, Staff and Students Publications

Acromegaly can result in many physiological changes that create multiple challenges for the anesthesiologist. Excess growth hormone secretion can result in altered facies, airway obstruction, ventilation challenges, and intubation difficulties. Moreover, hormonal changes can cause electrolyte imbalances, poor glycemic regulation, and hypertension. In addition, radial arterial invasive blood pressure monitoring can be relatively contraindicated given poor ulnar collateral circulation. In this case report, we discuss an acromegalic patient with severe facial, cardiovascular, and respiratory changes who successfully underwent transsphenoidal pituitary gland resection under general anesthesia. We describe our anesthetic approach toward caring for a patient with acromegaly.

Imaging Considerations For Patients With Chronic Low Back Pain: A Case Report, Kennedy Kirkpatrick, Jay D Shah, Krishna Shah

Faculty, Staff and Students Publications

Background: The incidence of low back pain, a leading cause of global disability, has increased significantly. Spinal cord stimulation (SCS) is US Food and Drug Administration-approved for treating intractable back pain, particularly in patients with prior surgical interventions.

Case report: A 43-year-old woman was referred for SCS implantation following 3 prior lumbar spinal surgeries with continued, right-sided radicular back pain. Additional diagnostic imaging was obtained, and a magnetic resonance imaging with and without contrast revealed a recurrent disc despite 3 lumbar microdiscectomies. The patient was then referred for lumbar spinal fusion, specifically anterior lumbar interbody fusion.

Conclusions: This case underscores …

Time Tracking And Comparison Of Genetic Counseling Tasks In Inpatient And Outpatient Settings, Alexandra Osborne, Emily Magness Bland, Callie Diamonstein, Kristen Fishler

Faculty, Staff and Students Publications

Genetic counselors (GCs) practice in critical care settings. Some GCs have full-time inpatient roles, while most GCs who see inpatients do so as needed or on a rotating schedule in addition to seeing patients in an outpatient setting. Few studies have tracked and compared the amount of time it takes GCs to perform tasks in the inpatient and outpatient settings. Genetic counselors were invited to participate in this study via the National Society of Genetic Counselors research listserv. Participants completed an online survey asking how their role is structured and what types of support are available to them while seeing …

A Novel Method For Semi-Quantitative Detection Of Hpv16 And Hpv18 Mrna With A Low-Cost, Open-Source Fluorimeter, Kathryn A Kundrod, Mary E Natoli, Chelsey A Smith, Jackson B Coole, Megan M Chang, Emilie Newsham Novak, Elizabeth Chiao, Elizabeth A Stier, Jane R Montealegre, Michael E Scheurer, Philip E Castle, Kathleen M Schmeler, Rebecca R Richards-Kortum

Center for Medical Ethics and Health Policy Staff Publications

Despite global calls to eliminate cervical cancer, rates of cervical cancer incidence and mortality remain high in resource-limited settings, where it is challenging to implement and sustain screening, diagnosis, and treatment programs. The presence of high-risk HPV mRNA in cervical cells is a sensitive and specific biomarker of cervical precancer. Yet, current testing methods are too costly and complex for use in resource-limited settings. Here, we present a novel method for semi-quantitative detection of HPV16 and HPV18 mRNA with minimal infrastructure requirements. The assay relies on isothermal reverse transcription recombinase polymerase amplification (RT-RPA) with real-time fluorescence readout, demonstrated on rugged, …

Tiered Clinician Vaccine Communication Strategy To Improve Childhood Vaccine Uptake: A Cluster Randomized Clinical Trial., Douglas J. Opel, Jeffrey D. Robinson, Chuan Zhou, Kathryn Colborn, Heather Spielvogle, Anna Furniss, Christine Spina, Cathryn Perreira, Sean T. O'Leary

Communication Faculty Publications and Presentations

No experimental studies to date have tested the effectiveness of clinician communication strategies to improve vaccine uptake among children of parents with negative vaccine attitudes.

Endogenous Dna Damage At Sites Of Terminated Transcripts, Jingjing Liu, Jullian O Perren, Cody M Rogers, Sadeieh Nimer, Alice X Wen, Jennifer A Halliday, Devon M Fitzgerald, Qian Mei, Ralf B Nehring, Mary Crum, Stanislav G Kozmin, Jun Xia, Matthew B Cooke, Yin Zhai, David Bates, Lei Li, P J Hastings, Irina Artsimovitch, Christophe Herman, Patrick M Sung, Kyle M Miller, Susan M Rosenberg

Faculty, Staff and Students Publications

DNA damage promotes mutations that fuel cancer, aging, and neurodegenerative diseases1–3, but surprisingly, the causes and types of damage remain largely unknown. There are three identified mechanisms that damage DNA during transcription: RNA polymerase (RNAP) colliding with DNA-replication machinery head-on and co-directionally4–6, and R-loop-induced DNA breakage7–10. Here, we identify DNA-damage reaction intermediates11,12 uncharacterized previously in living cells, and uncover a surprising fourth transcription-related source: endogenous DNA damage at sites of terminated transcripts. We engineered proteins to capture single-stranded (ss)DNA ends with 3'-polarity, in both bacterial …

Key Decision-Making Factors In Pediatric Microtia Repair, Maya Guhan, Grace Anand, Yi-Chun Liu

Faculty, Staff and Students Publications

No abstract provided.

Psychometric Properties Of The Postpartum Thoughts And Behaviors Checklist, Catherine E Rast, Tracey Dibbs, Caitlin M Pinciotti, Nisha Jagannathan, Jonathan S Abramowitz, Mary C Kimmel, Rashelle Musci, Gerald Nestadt, Paul Nestadt, Lauren M Osborne, Jack Samuels, Eric A Storch

Faculty, Staff and Students Publications

Obsessive compulsive disorder (OCD) has an increased prevalence throughout pregnancy and in the postpartum period relative to non-peripartum periods. While some obsessive-compulsive symptoms in this period present in the same manner to those in non-postpartum OCD, others are more specific to the postpartum period (e.g., obsessions related to sudden infant death syndrome [SIDS]). However, there are few validated scales assessing obsessive-compulsive symptoms during the postpartum period. This study examined the psychometric properties of the Postpartum Thoughts and Behaviors Checklist (PTBC), a semi-structured interview of intrusive thoughts and repetitive, neutralizing behaviors developed to address this gap. In a sample of 257 …

The Association Between County-Level Social Determinants Of Health And Cardio-Kidney-Metabolic Disease Attributed All-Cause Mortality In The Us: A Cross Sectional Analysis, Antoinette Cotton, Pedro Rvo Salerno, Salil V Deo, Salim S Virani, Khurram Nasir, Ian Neeland, Sanjay Rajagopalan, Naveed Sattar, Sadeer Al-Kindi, Yakov E Elgudin

Faculty, Staff and Students Publications

Background: The American Heart Association recently defined cardio-kidney-metabolic (CKM) syndrome as the intersection between metabolic, renal, and cardiovascular disease. Understanding the contemporary estimates of CKM related mortality in the US is essential for developing targeted public interventions.

Methods: We analyzed state-level and county-level CKM-associated all-cause mortality data (2010-2019) from the CDC Wide-ranging Online Data for Epidemiologic Research (WONDER). Median and interquartile (IQR) age-adjusted mortality rates (aaMR) per 100,000 were reported and linked with a multi-component metric for social deprivation: the Social Deprivation Index (SDI: range 0 - 100) grouped as: I: 0 - 25, II: 26 - 50, III: 51 …

Suppression Of Hypothalamic Oestrogenic Signal Sustains Hyperprolactinemia And Metabolic Adaptation In Lactating Mice, Meng Yu, Bing Feng, Jonathan C Bean, Qianru Zhao, Yongjie Yang, Hailan Liu, Yongxiang Li, Benjamin P Eappen, Hesong Liu, Longlong Tu, Kristine M Conde, Mengjie Wang, Xi Chen, Na Yin, Darah Ave Threat, Nathan Xu, Junying Han, Peiyu Gao, Yi Zhu, Darryl L Hadsell, Yang He, Pingwen Xu, Yanlin He, Chunmei Wang

Faculty, Staff and Students Publications

17β-oestradiol (E2) inhibits overeating and promotes brown adipose tissue (BAT) thermogenesis, whereas prolactin (PRL) does the opposite. During lactation, the simultaneous decline in E2 and surge in PRL contribute to maternal metabolic adaptations, including hyperphagia and suppressed BAT thermogenesis. However, the underlying neuroendocrine mechanisms remain unclear. Here, we find that oestrogen receptor alpha (ERα)-expressing neurons in the medial basal hypothalamus (MBH), specifically the arcuate nucleus of the hypothalamus and the ventrolateral subdivision of the ventromedial hypothalamus (vlVMH), are suppressed during lactation. Deletion of ERα from MBH neurons in virgin female mice induces metabolic phenotypes characteristic of lactation, including hyperprolactinemia, hyperphagia …

Clinical And Genetic Delineation Of Autosomal Recessive And Dominant Actl6b-Related Developmental Brain Disorders, Elisa Cali, Tania Quirin, Clarissa Rocca, Stephanie Efthymiou, Antonella Riva, Dana Marafi, Maha S Zaki, Mohnish Suri, Roberto Dominguez, Hasnaa M Elbendary, Shahryar Alavi, Mohamed S Abdel-Hamid, Heba Morsy, Frederic Tran Mau-Them, Mathilde Nizon, Pavel Tesner, Lukáš Ryba, Faisal Zafar, Nuzhat Rana, Nebal W Saadi, Zahra Firoozfar, Pinar Gencpinar, Bulent Unay, Canan Ustun, Ange-Line Bruel, Christine Coubes, Jennifer Stefanich, Ozlem Sezer, Emanuele Agolini, Antonio Novelli, Gessica Vasco, Donatella Lettori, Mathieu Milh, Laurent Villard, Shimriet Zeidler, Henry Opperman, Vincent Strehlow, Mahmoud Y Issa, Hebatallah El Khassab, Prem Chand, Shahnaz Ibrahim, Ali Rashidi-Nezhad, Mohammad Miryounesi, Pegah Larki, Jennifer Morrison, Ingrid Cristian, Isabelle Thiffault, Nicole L Bertsch, Grace J Noh, John Pappas, Ellen Moran, Nikolaos M Marinakis, Joanne Traeger-Synodinos, Susan Hosseini, Mohammad Reza Abbaszadegan, Roseline Caumes, Lisenka E L M Vissers, Maedeh Neshatdoust, Mostafa Montazer Zohour, Elmostafa El Fahime, Christina Canavati, Lara Kamal, Moien Kanaan, Omar Askander, Victoria Voinova, Olga Levchenko, Shahzhad Haider, Sara S Halbach, Rayana Elias Maia, Salehi Mansoor, Vivek Jain, Sanjukta Tawde, Viveka Santhosh R Challa, Vykuntaraju K Gowda, Varunvenkat M Srinivasan, Lucas Alves Victor, Benito Pinero-Banos, Jennifer Hague, Heba Ahmed Elawady, Adelia Maria De Miranda Henriques-Souza, Huma Arshad Cheema, Muhammad Nadeem Anjum, Sara Idkaidak, Firas Alqarajeh, Osama Atawneh, Hagar Mor-Shaked, Tamar Harel, Giovanni Zifarelli, Peter Bauer, Fernando Kok, Joao Paulo Kitajima, Fabiola Monteiro, Juliana Josahkian, Gaetan Lesca, Nicolas Chatron, Dorothe Ville, David Murphy, Jeffrey L Neul, Sureni V Mullegama, Amber Begtrup, Isabella Herman, Tadahiro Mitani, Jennifer E Posey, Chee Geap Tay, Iram Javed, Lucinda Carr, Farah Kanani, Fiona Beecroft, Lee Hane, Elsayed Abdelkreem, Milan Macek, Luciana Bispo, Marwa Abd Elmaksoud, Farzad Hashemi-Gorji, Davut Pehlivan, David J Amor, Rami Abou Jamra, Wendy K Chung, Eshan Ghayoor Karimiani, Philippe M Campeau, Fowzan S Alkuraya, Alistair T Pagnamenta, Joseph G Gleeson, James R Lupski, Pasquale Striano, Andres Moreno-De-Luca, Denis L J Lafontaine, Henry Houlden, Reza Maroofian

Faculty, Staff and Students Publications

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analyzed detailed clinical and genetic data for all individuals. Additionally, we conducted knockdown experiments in neuronal cells to investigate the role of ACTL6B in ribosome biogenesis.

Results: Biallelic variants in ACTL6B are associated with severe-to-profound global developmental delay/intellectual disability, infantile intractable seizures, absent speech, autistic features, dystonia, …

Recent Advances In The Management Of Pediatric Cholestatic Liver Diseases, Krupa R Mysore, Katherine Cheng, Lakshmi Anandini Suri, Rima Fawaz, Alisha M Mavis, Debora Kogan-Liberman, Saeed Mohammad, Sarah A Taylor

Faculty, Staff and Students Publications

Pediatric cholestatic liver diseases are rare conditions that can result from multiple specific underlying etiologies. Among the most common etiologies of pediatric cholestatic liver diseases are biliary atresia, Alagille syndrome (ALGS), and inherited disorders of bile acid transport. These diseases are characterized by episodic or chronic unremitting cholestasis. Due to the chronicity of these conditions, it is imperative to optimize medical management to improve patient quality of life, provide nutritional support, and reduce bile acid toxicity in efforts to slow disease progression. Cholestatic liver diseases remain the leading cause of pediatric liver transplantation, as many underlying disease etiologies have no …

The Burden Of Steatotic Liver Disease Before And During The Covid-19 Pandemic: Correspondence To Editorial On “Current Burden Of Steatotic Liver Disease And Fibrosis Among Adults In The United States, 2017–2023”, Donghee Kim, Pojsakorn Danpanichkul, Karn Wijarnpreecha, George Cholankeril, Rohit Loomba, Aijaz Ahmed

Faculty, Staff and Students Publications

No abstract provided.

Communicating Blood Test Results In Primary Care: A Mixed-Methods Systematic Review, Helen Nankervis, Alyson L Huntley, Penny Whiting, William Hamilton, Hardeep Singh, Sarah Dawson, Rachel O'Donnell, Jane Sprackman, Anna Ferguson Montague, Jessica Watson

Faculty, Staff and Students Publications

Background: Online records access, including test results, was rolled out as part of changes to the GP contract in England in 2023. Blood test result communication is important for patient-centred care, patient safety, and primary care workload. Evidence is needed to ensure that test results are communicated safely and efficiently to patients in primary care.

Aim: To summarise existing evidence for blood test result communication between primary care providers and their patients and carers.

Design and setting: A mixed-methods systematic review was undertaken.

Method: MEDLINE, Embase, PsycInfo (Ovid), CINAHL (EBSCOhost), and the Cochrane Library were searched from January 2013-September 2023. …

Sialidase Fusion Protein Protects Against Influenza Infection In A Cigarette Smoke-Induced Model Of Copd, Cheng-Yen Chang, Dominique Armstrong, John M Knight, Trevor V Gale, Stephen Hawley, Max Wang, Nancy Chang, David B Corry, Farrah Kheradmand

Faculty, Staff and Students Publications

First- and secondhand smokers are at an increased risk for influenza virus (IFV)-related respiratory failure and death. Despite approved influenza antiviral treatments, there is an unmet need for treatments that can improve outcomes in populations at risk for respiratory failure, including tobacco users with Chronic Obstructive Pulmonary Disease (COPD). Here we show that the sialidase fusion protein, DAS181, reduced viral burden, mitigated inflammation, and attenuated lung function loss, consistent with broad-spectrum anti-influenza responses in a mouse model of COPD and IFV-A infection. Treatment with DAS181 reprogramed the sialic acid-binding immunoglobulin-like lectins (Siglecs) in alveolar macrophages, increased expression of phagocytic marker …

Rapid Diagnostic Sequencing Of Stool Dna Using Targeted Nanopore Sequencing In Patients With A Pulmonary Tuberculosis Diagnosis, Tara Ness, Nontobeko Maphalala, Wethusonkhe Khumalo, Doctor Sibandze, Abigail Seeger, Maia Madison, Anca Vasiliu, Durbin Mulengwa, Clement Gascua, Mangaliso Ziyane, Sindisiwe Dlamini, Gugu Maphalala, Eric Bortz, Alexander Kay, Christoph Lange, Viola Dreyer, Tanja Niemann, Stefan Niemann, Andrew Dinardo, Anna Mandalakas, Stool4tb Global Partnership

Faculty, Staff and Students Publications

Background: Approximately 1.25 million individuals died of tuberculosis in 2023, in part due to ineffective treatment. In patients with paucibacillary tuberculosis, microbiologic confirmation and drug resistance testing via respiratory specimens is challenging; hence, stool samples are increasingly used for microbiologic confirmation. Targeted next-generation sequencing (tNGS) of stool DNA may improve detection of drug-resistant (DR) tuberculosis, helping patients receive appropriate treatments.

Methods: We assessed the ability of a nanopore tNGS approach using stool to detect drug resistance in a prospective, nested cohort of consecutive participants in Eswatini with pulmonary tuberculosis confirmed via sputum culture or sputum GeneXpert Ultra from 2020 to …