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Articles 241771 - 241800 of 5208749
Full-Text Articles in Entire DC Network
Hospital Commitments To Address Diagnostic Errors: An Assessment Of 95 Us Hospitals, Melissa Danforth, Mark L Graber, J Matthew Austin, Hardeep Singh
Hospital Commitments To Address Diagnostic Errors: An Assessment Of 95 Us Hospitals, Melissa Danforth, Mark L Graber, J Matthew Austin, Hardeep Singh
Faculty, Staff and Students Publications
Background: Diagnostic errors are a leading cause of patient harm. In 2022, the Leapfrog Group published a report containing 29 evidence-based practices that hospitals can adopt to reduce diagnostic errors.
Objectives: To understand the extent to which US hospitals have already implemented these practices, we conducted a national pilot survey of Leapfrog-participating hospitals.
Methods: To reduce respondent burden, we divided the 29 practices across two surveys: one focused on organizational culture and structure (Domain 1), and the second focused on the diagnostic process itself (Domain 2).
Results: A total of 95 hospitals from 23 states responded to one or both …
Diagnoses Supported By A Computerised Diagnostic Decision Support System Versus Conventional Diagnoses In Emergency Patients (Ddx-Bro): A Multicentre, Multiple-Period, Double-Blind, Cluster-Randomised, Crossover Superiority Trial, Stefan K Schauber, Gert Krummrey, Martin Müller, Thomas C Sauter, Cornelia Lambrigger, David Schwappach, Mathieu Nendaz, Gregor Lindner, Simon Bosbach, Ines Griesshammer, Philipp Schönberg, Emanuel Plüss, Valerie Romann, Svenja Ravioli, Nadine Werthmüller, Fabian Kölbener, Aristomenis K Exadaktylos, Hardeep Singh, Laura Zwaan
Diagnoses Supported By A Computerised Diagnostic Decision Support System Versus Conventional Diagnoses In Emergency Patients (Ddx-Bro): A Multicentre, Multiple-Period, Double-Blind, Cluster-Randomised, Crossover Superiority Trial, Stefan K Schauber, Gert Krummrey, Martin Müller, Thomas C Sauter, Cornelia Lambrigger, David Schwappach, Mathieu Nendaz, Gregor Lindner, Simon Bosbach, Ines Griesshammer, Philipp Schönberg, Emanuel Plüss, Valerie Romann, Svenja Ravioli, Nadine Werthmüller, Fabian Kölbener, Aristomenis K Exadaktylos, Hardeep Singh, Laura Zwaan
Faculty, Staff and Students Publications
Background: Diagnostic error is a frequent and clinically relevant health-care problem. Whether computerised diagnostic decision support systems (CDDSSs) improve diagnoses is controversial, and prospective randomised trials investigating their effectiveness in routine clinical practice are scarce. We hypothesised that diagnoses made with a CDDSS in the emergency department setting would be superior to unsupported diagnoses.
Methods: This multicentre, multiple-period, double-blind, cluster-randomised, crossover superiority trial was done in four emergency departments in Switzerland. Eligible patients were adults (aged ≥18 years) presenting with abdominal pain, fever of unknown origin, syncope, or non-specific symptoms. Emergency departments were randomly assigned (1:1) to one of two …
Expert Clinical Management Of Inflammatory Immune-Related Arthritis In Patients With Cancer Receiving Immune Checkpoint Inhibitors, Maria E Suarez-Almazor
Expert Clinical Management Of Inflammatory Immune-Related Arthritis In Patients With Cancer Receiving Immune Checkpoint Inhibitors, Maria E Suarez-Almazor
Faculty, Staff and Students Publications
Introduction: Treatment guidelines for immune-related inflammatory arthritis (irAE-IA) in patients with cancer receiving immune checkpoint inhibitors (ICIs) are vague with respect to the use of specific agents. Patients are usually referred to rheumatologists for treatment. We conducted a survey of expert rheumatologists to determine current practices. We also assessed experts' views on the potential deleterious effects of various agents on tumor progression.
Methods: We conducted a survey of international experts in the treatment of irAE-IA, identified as members of collaborative scientific workgroups in this area. Experts were presented with a case of a patient with moderate irAE-IA and were asked …
Analyzing The Donor Dilemma: Outcomes Of Kidney Transplant Recipients From Donors With Positive Blood Cultures Obtained At Organ Procurement, Pradeep Vaitla, James Wynn, Christopher Anderson, Jason Parham, Elena Beam, M Rizwan Sohail, Zerelda Esquer Garrigos
Analyzing The Donor Dilemma: Outcomes Of Kidney Transplant Recipients From Donors With Positive Blood Cultures Obtained At Organ Procurement, Pradeep Vaitla, James Wynn, Christopher Anderson, Jason Parham, Elena Beam, M Rizwan Sohail, Zerelda Esquer Garrigos
Faculty, Staff and Students Publications
Based on expert consensus, the American Society of Transplantation recommends 7-14 days of preventive antibiotic therapy for solid organ transplant recipients from donors with positive blood cultures. We evaluated management and outcomes of kidney transplant recipients from these donors.
Sustainable Solutions To The Continuous Threat Of Antimicrobial Resistance, Gonzalo Bearman, Tom Boyles, Arturo Casadevall, Graeme N Forrest, Sarah Freling, Bassam Ghanem, Fergus Hamilton, Brian Luna, Jessica Moore, Daniel M Musher, Travis B Nielsen, Priya Nori, Matthew C Phillips, Liise-Anne Pirofski, Andrew F Shorr, Steven Y C Tong, Todd C Lee, Emily G Mcdonald
Sustainable Solutions To The Continuous Threat Of Antimicrobial Resistance, Gonzalo Bearman, Tom Boyles, Arturo Casadevall, Graeme N Forrest, Sarah Freling, Bassam Ghanem, Fergus Hamilton, Brian Luna, Jessica Moore, Daniel M Musher, Travis B Nielsen, Priya Nori, Matthew C Phillips, Liise-Anne Pirofski, Andrew F Shorr, Steven Y C Tong, Todd C Lee, Emily G Mcdonald
Faculty, Staff and Students Publications
To combat antimicrobial resistance (AMR), advocates have called for passage of the Pioneering Antimicrobial Subscriptions To End Upsurging Resistance (PASTEUR) Act in the United States, which would appropriate $6 billion in new taxpayer-funded subsidies for antibiotic development. However, the number of antibiotics in clinical development, and US Food and Drug Administration approvals of new antibiotics, have already markedly increased in the last 15 years. Thus, instead of focusing on more economic subsidies, we recommend reducing selective pressure driving AMR by (1) establishing pay-for-performance mechanisms that disincentivize overprescribing of antibiotics, (2) focusing existing research and development funding on strategies that decrease …
Home Dialysis For Undocumented Individuals: A Five-Year Single Center Experience, Jade M Teakell
Home Dialysis For Undocumented Individuals: A Five-Year Single Center Experience, Jade M Teakell
Faculty, Staff and Students Publications
No abstract provided.
Oxidative Stress Promotes Lipid-Laden Macrophage Formation Via Cyp1b1, Dooyoung Choi, Francesca Polverino, Caroline A Owen, Payaningal R Somanath, Xiaoyun Wang, Duo Zhang
Oxidative Stress Promotes Lipid-Laden Macrophage Formation Via Cyp1b1, Dooyoung Choi, Francesca Polverino, Caroline A Owen, Payaningal R Somanath, Xiaoyun Wang, Duo Zhang
Faculty, Staff and Students Publications
Emerging evidence suggests that lipid-laden macrophages (LLM) participate in lung damage in various clinical conditions. However, the mechanisms involved in LLM formation are not fully understood. In this study, we aimed to investigate the link between reactive oxygen species (ROS) and LLM formation. We found that ROS triggered by cigarette smoke extract (CSE) or H2O2 significantly promoted LLM formation. Given the key role of ROS in LLM formation, we further demonstrated that LLM formation is induced by various ROS-producing stimuli, including bacteria, oxidized low-density lipoprotein (OxLDL), hyperoxia, and E-cigarette vapor extract (EVE). Meanwhile, cytochrome P450 family-1 subfamily B member 1 …
Effectiveness Of The Primary Bacillus Calmette-Guérin Vaccine Against The Risk Of Mycobacterium Tuberculosis Infection And Tuberculosis Disease: A Meta-Analysis Of Individual Participant Data, Alexandra S Richards, Carlos Acuña-Villaorduña, Naomi E Aronson, Maryline Bonnet, Anna C Carvalho, Pei-Chun Chan, Li-Min Huang, Chi-Tai Fang, Gavin Churchyard, Helena Del Corral-Londoño, Manjula Datta, Marcos A Espinal, Katherine Fielding, Andrew J Fiore-Gartland, Alberto Garcia-Basteiro, Willem Hanekom, Mark Hatherill, Phillip C Hill, Helena Huerga, Edward C Jones-López, Afranio Kritski, Anna M Mandalakas, Punam Mangtani, Eduardo Martins Netto, Harriet Mayanja, Rufaida Mazahir, Megan Murray, Molebogeng Rangaka, Thomas Scriba, Jitendra Singh, Sarman Singh, Catherine M Stein, Johan Vekemans, Lilly M Verhagen, Julian A Villalba, Anne Wajja, Basilea Watson, Richard G White, Frank G J Cobelens
Effectiveness Of The Primary Bacillus Calmette-Guérin Vaccine Against The Risk Of Mycobacterium Tuberculosis Infection And Tuberculosis Disease: A Meta-Analysis Of Individual Participant Data, Alexandra S Richards, Carlos Acuña-Villaorduña, Naomi E Aronson, Maryline Bonnet, Anna C Carvalho, Pei-Chun Chan, Li-Min Huang, Chi-Tai Fang, Gavin Churchyard, Helena Del Corral-Londoño, Manjula Datta, Marcos A Espinal, Katherine Fielding, Andrew J Fiore-Gartland, Alberto Garcia-Basteiro, Willem Hanekom, Mark Hatherill, Phillip C Hill, Helena Huerga, Edward C Jones-López, Afranio Kritski, Anna M Mandalakas, Punam Mangtani, Eduardo Martins Netto, Harriet Mayanja, Rufaida Mazahir, Megan Murray, Molebogeng Rangaka, Thomas Scriba, Jitendra Singh, Sarman Singh, Catherine M Stein, Johan Vekemans, Lilly M Verhagen, Julian A Villalba, Anne Wajja, Basilea Watson, Richard G White, Frank G J Cobelens
Faculty, Staff and Students Publications
Background: Tuberculosis vaccine trials using disease as the primary endpoint are large, time consuming, and expensive. An earlier immunological measure of the protection against disease would accelerate tuberculosis vaccine development. We aimed to assess whether the effectiveness of the Bacillus Calmette-Guérin (BCG) vaccine for prevention of Mycobacterium tuberculosis infection was consistent with that for prevention of tuberculosis disease.
Methods: We conducted an individual participant data (IPD) meta-analysis on experimental and observational longitudinal studies before April 6, 2018, identified through systematic reviews, known to us through expert knowledge in the field, reporting on BCG vaccination status, M tuberculosis infection test (QuantiFERON …
Magnesium Sulfate In The Management Of Acute Ischemic Stroke: A Review Of The Literature And Future Directions
Faculty, Staff and Students Publications
Background: The management of acute ischemic stroke (AIS) was revolutionized within the last 15 years with the introduction of mechanical thrombectomy (MT) to standard of care. Despite the success of mechanical thrombectomy (MT) in achieving high recanalization rates for large vessel occlusion, functional independence post-treatment remains suboptimal. The current limitations of MT prompt evaluation of the role of adjunctive pharmacologic neuroprotective therapies to prevent excitotoxicity, cellular apoptosis, and inflammation that cause irreversible neuronal damage during AIS. Magnesium (MgSO4) provides an attractive neuroprotectant profile, having many different effects, and is inexpensive, readily available, and has a long-established safety and tolerability profile …
Exploring Individual Differences In Amygdala-Mediated Memory Modulation, Stephan B Hamann, Kelly Bijanki, Robert E Gross, Daniel L Drane, Justin M Campbell, Krista L Wahlstrom, Griffin F Light, Aydin Tasevac, Phillip Demarest, Peter Brunner, Jon T Willie, Cory S Inman
Exploring Individual Differences In Amygdala-Mediated Memory Modulation, Stephan B Hamann, Kelly Bijanki, Robert E Gross, Daniel L Drane, Justin M Campbell, Krista L Wahlstrom, Griffin F Light, Aydin Tasevac, Phillip Demarest, Peter Brunner, Jon T Willie, Cory S Inman
Faculty, Staff and Students Publications
Amygdala activation by emotional arousal during memory formation can prioritize events for long-term memory. Building upon our prior demonstration that brief electrical stimulation to the human amygdala reliably improved long-term recognition memory for images of neutral objects without eliciting an emotional response, our study aims to explore and describe individual differences and stimulation-related factors in amygdala-mediated memory modulation. Thirty-one patients undergoing intracranial monitoring for intractable epilepsy were shown neutral object images paired with direct amygdala stimulation during encoding with recognition memory tested immediately and one day later. Adding to our prior sample, we found an overall memory enhancement effect without …
Implementation Of In Utero Laparotomy-Assisted Fetoscopic Spina Bifida Repair In Two Centers In Latin America: Rationale For This Approach In This Region, Cristóbal Abello, Guido Parra, Juan Hernandez, Amanda Barrero, Isabela Leones, Adriana Nieto-Sanjuanero, Gerardo Sepúlveda-Gonzalez, Magdalena Sanz-Cortes
Implementation Of In Utero Laparotomy-Assisted Fetoscopic Spina Bifida Repair In Two Centers In Latin America: Rationale For This Approach In This Region, Cristóbal Abello, Guido Parra, Juan Hernandez, Amanda Barrero, Isabela Leones, Adriana Nieto-Sanjuanero, Gerardo Sepúlveda-Gonzalez, Magdalena Sanz-Cortes
Faculty, Staff and Students Publications
Background: Spina bifida (SB) is a severe congenital malformation that affects approximately 150,000 infants annually, predominantly in low- and middle-income countries, leading to significant morbidity and lifelong disabilities. In Latin America, the birth prevalence of SB is notably high, often exacerbated by limited healthcare resources and poor access to advanced medical care. The implementation of laparotomy-assisted fetoscopic in-utero SB repair programs in Latin America targets reducing prematurity rates and enabling vaginal births while preserving the benefits of decreased need for hydrocephalus treatment and improved mobility in children.
Objective: This study evaluated the safety, efficacy, and outcomes of laparotomy-assisted fetoscopic in-utero …
Implementation Of Electronic Triggers To Identify Diagnostic Errors In Emergency Departments, Li Wei, Daniel R Murphy, Umair Mushtaq, Dean F Sittig, Andrew J Zimolzak, Hardeep Singh
Implementation Of Electronic Triggers To Identify Diagnostic Errors In Emergency Departments, Li Wei, Daniel R Murphy, Umair Mushtaq, Dean F Sittig, Andrew J Zimolzak, Hardeep Singh
Faculty, Staff and Students Publications
Importance: Missed diagnosis can lead to preventable patient harm.
Objective: To develop and implement a portfolio of electronic triggers (e-triggers) and examine their performance for identifying missed opportunities in diagnosis (MODs) in emergency departments (EDs).
Design, setting, and participants: In this retrospective medical record review study of ED visits at 1321 Veterans Affairs health care sites, rules-based e-triggers were developed and implemented using a national electronic health record repository. These e-triggers targeted 6 high-risk presentations for MODs in treat-and-release ED visits. A high-risk stroke e-trigger was applied to treat-and-release ED visits from January 1, 2016, to December 31, 2020. A …
Pancreatic Organogenesis Mapped Through Space And Time, Natalia M Ziojla, Jessica Teaw, Jeffrey C Carlson, Jonathan Tiessen, Jolanta Chmielowiec, James F Martin, Malgorzata Borowiak
Pancreatic Organogenesis Mapped Through Space And Time, Natalia M Ziojla, Jessica Teaw, Jeffrey C Carlson, Jonathan Tiessen, Jolanta Chmielowiec, James F Martin, Malgorzata Borowiak
Faculty, Staff and Students Publications
The spatial organization of cells within a tissue is dictated throughout dynamic developmental processes. We sought to understand whether cells geometrically coordinate with one another throughout development to achieve their organization. The pancreas is a complex cellular organ with a particular spatial organization. Signals from the mesenchyme, neurons, and endothelial cells instruct epithelial cell differentiation during pancreatic development. To understand the cellular diversity and spatial organization of the developing pancreatic niche, we mapped the spatial relationships between single cells over time. We found that four transcriptionally unique subtypes of mesenchyme in the developing pancreas spatially coordinate throughout development, with each …
Oral Anticoagulant Initiation In Patients With Kidney Failure On Hemodialysis Newly Diagnosed With Atrial Fibrillation (2007-2020): An Observational Study Of Trends And Disparities, Medha Airy, Kevin F Erickson, Tara I Chang, Jingbo Niu
Oral Anticoagulant Initiation In Patients With Kidney Failure On Hemodialysis Newly Diagnosed With Atrial Fibrillation (2007-2020): An Observational Study Of Trends And Disparities, Medha Airy, Kevin F Erickson, Tara I Chang, Jingbo Niu
Faculty, Staff and Students Publications
Rationale & objective: Atrial fibrillation (AF) is common in patients with kidney failure on hemodialysis (HD), but few patients receive oral anticoagulant (OAC) treatment. Availability of direct-target OACs starting in 2010 may have induced greater OAC initiation, but this has not been systematically studied.
Study design: Retrospective cohort study.
Setting & participants: Using Medicare fee-for-service billing claims (2006-2020), we identified previously OAC-naïve HD patients newly-diagnosed with AF between January 1, 2007, and October 1, 2020.
Exposures: Calendar year; race/ethnicity.
Outcomes: OAC initiation within 90 days from AF diagnosis (any; specific agent).
Analytical approach: We estimated initiation risk ratios for each …
Disease Activity Of Rheumatoid Arthritis And Kidney Function Decline: A Large Prospective Registry Study, Javier Marrugo, Hongshu Guan, Leslie Harrold, Heather J Litman, Tomohiro Shinozaki, Daniel H Solomon
Disease Activity Of Rheumatoid Arthritis And Kidney Function Decline: A Large Prospective Registry Study, Javier Marrugo, Hongshu Guan, Leslie Harrold, Heather J Litman, Tomohiro Shinozaki, Daniel H Solomon
Faculty, Staff and Students Publications
Introduction: Chronic kidney disease (CKD) is a common comorbidity of rheumatoid arthritis (RA). The association of longitudinal RA disease activity with long-term kidney function has remained uncertain.
Method: We analysed a multicentre prospective RA registry in the USA from 2001 to 2022. The exposure was updated time-averaged Clinical Disease Activity Index (TA-CDAI) categories from study enrolment. The primary outcome was a longitudinal estimated glomerular filtration rate (eGFR) change. Secondary outcomes included developments of CKD stage G3a (eGFR< 60 mL/min/1.73 m2) and stage G3b (eGFR< 45 mL/min/1.73 m2). Results were adjusted for relevant time-fixed and time-varying covariates.
Results: 31 129 patients (median age: 58.0 years, female: 76.3%, median eGFR: 90.7 mL/min/1.73 m2) contributed 234 973 visits and 146 778 person-years …
Benefits And Harms Of Hepatocellular Carcinoma Screening Outreach In Patients With Cirrhosis: A Multicenter Randomized Clinical Trial, Sruthi Yekkaluri, Yan Liu, Vanessa Cerda, Chaitra Banala, Aisha Khan, Minjae Lee, Karim Seif El Dahan, Caitlin C Murphy, Jennifer R Kramer, Ruben Hernaez
Benefits And Harms Of Hepatocellular Carcinoma Screening Outreach In Patients With Cirrhosis: A Multicenter Randomized Clinical Trial, Sruthi Yekkaluri, Yan Liu, Vanessa Cerda, Chaitra Banala, Aisha Khan, Minjae Lee, Karim Seif El Dahan, Caitlin C Murphy, Jennifer R Kramer, Ruben Hernaez
Faculty, Staff and Students Publications
Background: The value of hepatocellular carcinoma screening is defined by the balance of benefits from early tumor detection vs harms because of false-positive results. We evaluated the value of a mailed outreach strategy for hepatocellular carcinoma screening in patients with cirrhosis.
Methods: We conducted a multicenter pragmatic randomized clinical trial comparing mailed outreach for hepatocellular carcinoma screening (n = 1436) and usual care with visit-based screening (n = 1436) among patients with cirrhosis at 3 health systems from March 2018 to September 2021. Outcomes of interest were early stage hepatocellular carcinoma detection (ie, screening benefit) and diagnostic evaluation for false-positive …
Emapalumab Treatment In Patients With Rheumatologic Disease-Associated Hemophagocytic Lymphohistiocytosis In The United States: A Retrospective Medical Chart Review Study., Shanmuganathan Chandrakasan, Carl E. Allen, Deepika Bhatla, John Carter, May Chien, Robert Cooper, Lauren Draper, Olive S. Eckstein, Rabi Hanna, J Allyson Hays, Michelle L. Hermiston, Ashley P. Hinson, Patricia M. Hobday, Michael S. Isakoff, Michael B. Jordan, Jennifer W. Leiding, Renee Modica, Taizo A. Nakano, Abiola Oladapo, Sachit A. Patel, Priti Pednekar, Mona Riskalla, Susmita N. Sarangi, Prakash Satwani, Anand Tandra, Kelly J. Walkovich, John D. Yee, Adi Zoref-Lorenz, Edward M. Behrens, Real‐Hlh Investigators
Emapalumab Treatment In Patients With Rheumatologic Disease-Associated Hemophagocytic Lymphohistiocytosis In The United States: A Retrospective Medical Chart Review Study., Shanmuganathan Chandrakasan, Carl E. Allen, Deepika Bhatla, John Carter, May Chien, Robert Cooper, Lauren Draper, Olive S. Eckstein, Rabi Hanna, J Allyson Hays, Michelle L. Hermiston, Ashley P. Hinson, Patricia M. Hobday, Michael S. Isakoff, Michael B. Jordan, Jennifer W. Leiding, Renee Modica, Taizo A. Nakano, Abiola Oladapo, Sachit A. Patel, Priti Pednekar, Mona Riskalla, Susmita N. Sarangi, Prakash Satwani, Anand Tandra, Kelly J. Walkovich, John D. Yee, Adi Zoref-Lorenz, Edward M. Behrens, Real‐Hlh Investigators
Manuscripts, Articles, Book Chapters and Other Papers
OBJECTIVE: Rheumatologic disease-associated hemophagocytic lymphohistiocytosis (HLH), a rare, life-threatening, systemic hyperinflammatory syndrome, occurs as a complication of underlying rheumatologic disease. Real-world evidence is lacking on emapalumab, a fully human monoclonal antibody that neutralizes the proinflammatory cytokine interferon-γ, approved for treating patients with primary HLH.
METHODS: REAL-HLH, a retrospective medical chart review study conducted across 33 US hospitals, assessed real-world treatment patterns and outcomes in patients with HLH treated with one or more dose of emapalumab between November 20, 2018, and October 31, 2021. Data are presented for the subset of patients with rheumatologic disease-associated HLH.
RESULTS: Fifteen of 105 patients …
Analyzing The Creation And Use Of Abbreviations In Cardiology And Cardiac Imaging Society Guidelines., Christopher R. Green, Rui Zhang, Raymond F. Stainback, Sofia W. Ye, Daniel Forsha, Enrique Garcia-Sayan, Jeffrey C. Hill, Carol Mitchell, Vera H. Rigolin, Vandana Sachdev, Partho P. Sengupta, Vincent L. Sorrell, Jordan B. Strom, Alexander M. Ye, Cynthia C. Taub
Analyzing The Creation And Use Of Abbreviations In Cardiology And Cardiac Imaging Society Guidelines., Christopher R. Green, Rui Zhang, Raymond F. Stainback, Sofia W. Ye, Daniel Forsha, Enrique Garcia-Sayan, Jeffrey C. Hill, Carol Mitchell, Vera H. Rigolin, Vandana Sachdev, Partho P. Sengupta, Vincent L. Sorrell, Jordan B. Strom, Alexander M. Ye, Cynthia C. Taub
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: Abbreviation use in clinical and academic cardiology is widespread, yet there are few guidelines regulating the creation and utilization of abbreviations. Inconsistent abbreviations can introduce ambiguity and pose challenges to practice and research.
OBJECTIVES: The authors aimed to analyze how abbreviations are created and utilized in general cardiology and cardiac imaging society guidelines in order to assess whether ambiguities and discrepancies exist between societies.
METHODS: Abbreviation data were collected from 7 national and international societies of general cardiology and cardiac imaging over a 6-year span (2018-2023). Data were linguistically coded for abbreviation type, unique occurrence, meaning or sense count, …
Rapid And Scalable Personalized Aso Screening In Patient-Derived Organoids., John C. Means, Anabel L. Martinez-Bengochea, Daniel A. Louiselle, Jacqelyn Nemechek, John M. Perry, Emily G. Farrow, Tomi Pastinen, Scott T. Younger
Rapid And Scalable Personalized Aso Screening In Patient-Derived Organoids., John C. Means, Anabel L. Martinez-Bengochea, Daniel A. Louiselle, Jacqelyn Nemechek, John M. Perry, Emily G. Farrow, Tomi Pastinen, Scott T. Younger
Manuscripts, Articles, Book Chapters and Other Papers
Personalized antisense oligonucleotides (ASOs) have achieved positive results in the treatment of rare genetic disease. As clinical sequencing technologies continue to advance, the ability to identify patients with rare disease harbouring pathogenic genetic variants amenable to this therapeutic strategy will probably improve. Here we describe a scalable platform for generating patient-derived cellular models and demonstrate that these personalized models can be used for preclinical evaluation of patient-specific ASOs. We describe protocols for delivery of ASOs to patient-derived organoid models and confirm reversal of disease-associated phenotypes in cardiac organoids derived from a patient with Duchenne muscular dystrophy (DMD) with a structural …
Structural Polymorphism And Diversity Of Human Segmental Duplications., Hyeonsoo Jeong, Philip C. Dishuck, Dongahn Yoo, William T. Harvey, Katherine M. Munson, Alexandra P. Lewis, Jennifer Kordosky, Gage H. Garcia, Human Genome Structural Variation Consortium (Hgsvc), Feyza Yilmaz, Pille Hallast, Charles Lee, Tomi Pastinen, Evan E. Eichler
Structural Polymorphism And Diversity Of Human Segmental Duplications., Hyeonsoo Jeong, Philip C. Dishuck, Dongahn Yoo, William T. Harvey, Katherine M. Munson, Alexandra P. Lewis, Jennifer Kordosky, Gage H. Garcia, Human Genome Structural Variation Consortium (Hgsvc), Feyza Yilmaz, Pille Hallast, Charles Lee, Tomi Pastinen, Evan E. Eichler
Manuscripts, Articles, Book Chapters and Other Papers
Segmental duplications (SDs) contribute significantly to human disease, evolution and diversity but have been difficult to resolve at the sequence level. We present a population genetics survey of SDs by analyzing 170 human genome assemblies (from 85 samples representing 38 Africans and 47 non-Africans) in which the majority of autosomal SDs are fully resolved using long-read sequence assembly. Excluding the acrocentric short arms and sex chromosomes, we identify 173.2 Mb of duplicated sequence (47.4 Mb not present in the telomere-to-telomere reference) distinguishing fixed from structurally polymorphic events. We find that intrachromosomal SDs are among the most variable, with rare events …
National Prescribing Practices For Pediatric Dystonia Among Providers In The United States., Sarah Paige Davis, Natalie J. Kane, Haley E. Botteron, Rose N. Gelineau-Morel
National Prescribing Practices For Pediatric Dystonia Among Providers In The United States., Sarah Paige Davis, Natalie J. Kane, Haley E. Botteron, Rose N. Gelineau-Morel
Manuscripts, Articles, Book Chapters and Other Papers
While multiple oral medications are used to treat dystonia, limited information exists on current prescribing practices. This study analyzes real-world prescribing practices for pediatric dystonia in the United States, evaluating prescription frequency, dosing, and the impact of comorbidities. Oracle electronic health record real-world data were queried from 2014 to 2019 for encounters of patients under age 18 with a dystonia diagnosis and available medication records. Information was extracted on prescriptions for dystonia medications (baclofen, clonidine, carbidopa-levodopa, gabapentin, tetrabenazine, trihexyphenidyl, and select benzodiazepines), dosing, and comorbid diagnoses of cerebral palsy (CP), epilepsy, or spasticity. A total of 4010 pediatric patients with …
Diagnostic Accuracy Prior To Congenital Heart Defect Surgery: A Multicenter Collaboration., Shobha S. Natarajan, Kasey Chaszczewski, Chris Penney, Steve Ampah, Douglas Ryba, Andrea T. Kennedy, Robert Olsen, Shubhika Srivastava, Matthew J. Campbell, Mya Carney, Carol Prospero, Lisa Elliott, Carlie Brewer, Michael Dimaria, Nitin Madan, Seda Tierney, Meaghan Beattie, Ritu Sachdeva, Joan Lipinski, Kenan W D Stern, Grace Kong, Preeta Dhanantwari, Elena N. Kwon, Hari Rajagopal, Carolyn Taylor, Tammy Churchill, Aura A. Sanchez Mejia, Deidra Abenlah Ansah, Anitha Parthiban, Hasti Sanandajifar, Sowmya Balasubramanian, David A. Parra, Kimberly Crum, Corey Stiver, Aarti H. Bhat, Pei-Ni Jone, Stefani Samples, Kathleen Van't Hof, Curt Degroff, Dalia Lopez-Colon, Meryl S. Cohen
Diagnostic Accuracy Prior To Congenital Heart Defect Surgery: A Multicenter Collaboration., Shobha S. Natarajan, Kasey Chaszczewski, Chris Penney, Steve Ampah, Douglas Ryba, Andrea T. Kennedy, Robert Olsen, Shubhika Srivastava, Matthew J. Campbell, Mya Carney, Carol Prospero, Lisa Elliott, Carlie Brewer, Michael Dimaria, Nitin Madan, Seda Tierney, Meaghan Beattie, Ritu Sachdeva, Joan Lipinski, Kenan W D Stern, Grace Kong, Preeta Dhanantwari, Elena N. Kwon, Hari Rajagopal, Carolyn Taylor, Tammy Churchill, Aura A. Sanchez Mejia, Deidra Abenlah Ansah, Anitha Parthiban, Hasti Sanandajifar, Sowmya Balasubramanian, David A. Parra, Kimberly Crum, Corey Stiver, Aarti H. Bhat, Pei-Ni Jone, Stefani Samples, Kathleen Van't Hof, Curt Degroff, Dalia Lopez-Colon, Meryl S. Cohen
Manuscripts, Articles, Book Chapters and Other Papers
BACKGROUND: Echocardiography is the mainstay for diagnosing congenital heart disease (CHD). Diagnostic errors can lead to suboptimal surgical outcomes.
OBJECTIVES: This multicenter pediatric echocardiography collaborative learning initiative explores reasons for diagnostic errors, investigates associations between patient- and center-specific factors and errors, and relays the benefits of a multicenter approach to decrease these errors as a first step to improve CHD surgical outcomes.
METHODS: Participating centers submitted diagnostic evaluations on patients prior to 2-ventricle repair into a central database. We held virtual meetings to revise variables and discuss cases to learn from each other.
RESULTS: Fourteen pediatric echocardiography laboratories entered data …
Mirnaome-Metabolome Wide Association Study Reveals Effects Of Mirna Regulation In Eosinophilia And Airflow Obstruction In Childhood Asthma, Rinku Sharma, Kevin Mendez, Sofina Begum, Su Chu, Nicole Prince, Julian Hecker, Rachel S. Kelly, Qingwen Chen, Craig E. Wheelock, Juan C. Celedón, Clary Clish, Robert Gertszen, Kelan G. Tantisira, Scott T. Weiss, Jessica Lasky-Su, Michael Mcgeachie
Mirnaome-Metabolome Wide Association Study Reveals Effects Of Mirna Regulation In Eosinophilia And Airflow Obstruction In Childhood Asthma, Rinku Sharma, Kevin Mendez, Sofina Begum, Su Chu, Nicole Prince, Julian Hecker, Rachel S. Kelly, Qingwen Chen, Craig E. Wheelock, Juan C. Celedón, Clary Clish, Robert Gertszen, Kelan G. Tantisira, Scott T. Weiss, Jessica Lasky-Su, Michael Mcgeachie
Research outputs 2022 to 2026
Background: There are important inter-relationships between miRNAs and metabolites: alterations in miRNA expression can be induced by various metabolic stimuli, and miRNAs play a regulatory role in numerous cellular processes, impacting metabolism. While both specific miRNAs and metabolites have been identified for their role in childhood asthma, there has been no global assessment of the combined effect of miRNAs and the metabolome in childhood asthma. Methods: We performed miRNAome-metabolome-wide association studies (‘miR-metabo-WAS’) in two childhood cohorts of asthma to evaluate the contemporaneous and persistent miRNA-metabolite associations: 1) Genetic Epidemiology of Asthma in Costa Rica Study (GACRS) (N = 1121); 2) …
A Holistic Marine Biosecurity Risk Framework That Is Inclusive Of Social, Cultural, Economic And Ecological Values, Marnie L. Campbell, Chad L. Hewitt
A Holistic Marine Biosecurity Risk Framework That Is Inclusive Of Social, Cultural, Economic And Ecological Values, Marnie L. Campbell, Chad L. Hewitt
Research outputs 2022 to 2026
Effectively managing non-indigenous marine species risks demands swift, transparent decisions amid limited data and in an environment where conflicting interest across environmental, economic, social, and cultural realms exists. Conventional risk assessment tools often fail to comprehensively evaluate these risks together, leading to stakeholder dissatisfaction, conflicts and poor biosecurity outcomes. To address this, we present a structured 7-step marine biosecurity risk framework. It systematically assesses incursion's ecological, economic, social and cultural impacts, encourages stakeholder engagement and promotes inclusive decision-making. Steps include defining contexts, setting objectives, estimating consequences, determining management options, evaluating trade-offs, implementing decisions, and communicating risks effectively. A simulation using …
Children's Views On Outdoor Advertising Of Unhealthy Food And Beverages Near Schools, Jacinta Francis, Elizabeth Ross, Claire Pulker, Sally Brinkman, Joelie Mandzufas, Karen Martin, Justine Howard, Gina Trapp
Children's Views On Outdoor Advertising Of Unhealthy Food And Beverages Near Schools, Jacinta Francis, Elizabeth Ross, Claire Pulker, Sally Brinkman, Joelie Mandzufas, Karen Martin, Justine Howard, Gina Trapp
Research outputs 2022 to 2026
Children are often exposed to unhealthy outdoor food advertisements during the school commute. This exposure can have negative public health consequences given childhood weight gain has been linked to the marketing of energy-dense and nutrient-poor foods. This study aimed to explore schoolchildren's lived experiences and attitudes towards outdoor advertising surrounding their schools. Seven focus groups with children aged 10–16 years (n = 47) attending schools located in areas with high densities of unhealthy outdoor advertising were conducted in Perth, Western Australia, between July and October 2023. Study participants were aware of outdoor advertising of unhealthy food and beverages near their …
Differential Effects Of Stimulation Waveform And Intensity On The Neural Structures Activated By Lumbar Transcutaneous Spinal Cord Stimulation, Harrison T. Finn, Marel Parono, Elizabeth A. Bye, Janet L. Taylor, Simon C. Gandevia, Martin E. Héroux, Jane E. Butler
Differential Effects Of Stimulation Waveform And Intensity On The Neural Structures Activated By Lumbar Transcutaneous Spinal Cord Stimulation, Harrison T. Finn, Marel Parono, Elizabeth A. Bye, Janet L. Taylor, Simon C. Gandevia, Martin E. Héroux, Jane E. Butler
Research outputs 2022 to 2026
Lumbar transcutaneous spinal cord stimulation (TSS) evokes synchronized muscle responses, termed spinally evoked motor response (sEMR). Whether the structures TSS activates to evoke sEMRs differ when TSS intensity and waveform are varied is unknown. In 15 participants (9 F, 6 M), sEMRs were evoked by TSS over L1–L3 (at sEMR threshold and suprathreshold intensities) with conventional (one 400-ls biphasic pulse) or high-frequency burst (ten 40-ls biphasic pulses at 10 kHz) stimulus waveforms in vastus medialis (VM), tibialis anterior (TA), and medial gastrocnemius (MG) muscles. TSS was paired with transcranial magnetic stimulation (TMS) over the contralateral motor cortex at relative interstimulus …
Genome Wide Association Study Reveals Novel Associations With Face Morphology, Aamer Alshehhi, Mira Mousa, Guan K. Tay, Naoufel Werghi, Habiba Alsafar
Genome Wide Association Study Reveals Novel Associations With Face Morphology, Aamer Alshehhi, Mira Mousa, Guan K. Tay, Naoufel Werghi, Habiba Alsafar
Research outputs 2022 to 2026
Genome-wide association studies (GWAS) on the Middle Eastern population, including the United Arab Emirates (UAE), have been relatively limited. The present study aims to investigate genotype-face morphology associations in the UAE population through Genome Wide Association Studies (GWAS). Phenotypic data (44 face measurements) from 172 Emiratis was obtained through three-dimensional (3D) scanning technology and an automatic face landmarking technique. GWAS analysis revealed associations of 19 genetic loci with six face features, 14 of which are novel. The GWAS analysis revealed 11 significant relationships between 44 face parameters and 242 SNPs, exceeding the GWAS significance threshold. These phenotypes were previously associated …
Meso-Damage Characterization Of Chemically Corroded Rocks Under Unloading Confinement Conditions, Hao Li, Leo Pel, Zhenjiang You, David Smeulders
Meso-Damage Characterization Of Chemically Corroded Rocks Under Unloading Confinement Conditions, Hao Li, Leo Pel, Zhenjiang You, David Smeulders
Research outputs 2022 to 2026
Characterizing meso-damage and understanding its correlation with macroscopic mechanical responses of rocks under coupled chemical-mechanical (C-M) conditions are crucial for the stability analysis and safety design of underground constructions in chemically corrosive environments. This research proposes a model to quantify coupled C-M meso-damage of rocks, utilizing geochemical surface reaction theory, statistical mechanics, thermodynamic principles, and novel principals proposed in this study, termed Random Energy Release Rate (RERR) and Effective Chemical Damage (ECD). To achieve this goal, a multiscale experimental investigation, including Nuclear Magnetic Resonance (NMR), X-ray diffraction (XRD), Scanning electron microscopy (SEM), pH and ion chromatography analysis, triaxial compression and …
Trajectories Of Supportive Care Needs For People Who Travel To Receive Cancer Treatment: A Longitudinal Study In Australia, Susannah K. Ayre, Elizabeth A. Johnston, Michael Ireland, Sonja March, Jeff Dunn, Suzanne Chambers, Belinda C. Goodwin
Trajectories Of Supportive Care Needs For People Who Travel To Receive Cancer Treatment: A Longitudinal Study In Australia, Susannah K. Ayre, Elizabeth A. Johnston, Michael Ireland, Sonja March, Jeff Dunn, Suzanne Chambers, Belinda C. Goodwin
Research outputs 2022 to 2026
Objective: To describe trajectories of change in unmet supportive care needs over a two-year period among people diagnosed with cancer and assess whether these trajectories vary as a function of sociodemographic and clinical characteristics. Methods: This analysis used data from a longitudinal study of people in Queensland, Australia who travelled largely from regional and remote areas to metropolitan centres to receive cancer care (N = 784). Supportive care needs were measured at baseline, then at 3-, 12-, and 24-month post-baseline across five domains (‘psychological’, ‘physical and daily living’, ‘health systems and information’, ‘patient care and support’, ‘sexuality’) using the Supportive …
برنامج نافس في عامه الثالث: دراسة تحليلية في إطار السياسات العامة, Sara Almessabi
برنامج نافس في عامه الثالث: دراسة تحليلية في إطار السياسات العامة, Sara Almessabi
Theses
Nafis Program in its Third Year: A Public Policy Analysis
Emiratization in the United Arab Emirates (UAE) stands at the forefront of government priorities, with policymakers placing significant emphasis on it as a fundamental pillar for providing citizens with a dignified life and enhancing their participation across various economic sectors. Emiratis are considered integral contributors to driving their country's economic development. Recognizing this importance, the UAE government has focused its efforts since the country's establishment on enacting public policies that enable Emiratis to integrate into both the public and private labour markets. However, these policies have faced several challenges, most …