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Full-Text Articles in Medicine and Health Sciences

A Next Generation Sequencing-Based Protocol For Screening Of Variants Of Concern In Autism Spectrum Disorder, Jie Huang, Jun Liu, Ruiyi Tian, Kevin Liu, Patrick Zhuang, Hannah Tayla Sherman, Christoph Budjan, Michelle Fong, Min-Seo Jeong, Xue-Jun Kong Dec 2021

A Next Generation Sequencing-Based Protocol For Screening Of Variants Of Concern In Autism Spectrum Disorder, Jie Huang, Jun Liu, Ruiyi Tian, Kevin Liu, Patrick Zhuang, Hannah Tayla Sherman, Christoph Budjan, Michelle Fong, Min-Seo Jeong, Xue-Jun Kong

2020-Current year OA Pubs

Autism spectrum disorder (ASD) is a neurodevelopmental disorder with strong genetic influences. There is an increasing demand for ASD genetic testing beyond the traditionally recommended microarray and syndromic autism testing; however, the current whole genome sequencing (WGS) and whole exome sequencing (WES) methods are lacking an academic standard for WGS variant annotation, reporting, and interpretation, tailored towards patients with ASD and offer very limited interpretation for clinical significance. Using WGS data from six family trios, we demonstrate the clinical feasibility and technical implementation of an evidence-based, fully transparent bioinformatics pipeline and report framework for an ASD-focused WGS genetic report. We …


Attitudes Toward Osteopathic Medicine Scale: Development And Psychometrics, Mohammadreza Hojat Professor, Jennifer Desantis, Robert A Cain, Mark R Speicher, Lynn Bragan, Leonard H Calabrese Nov 2021

Attitudes Toward Osteopathic Medicine Scale: Development And Psychometrics, Mohammadreza Hojat Professor, Jennifer Desantis, Robert A Cain, Mark R Speicher, Lynn Bragan, Leonard H Calabrese

Department of Medicine Faculty Papers

Objective: To develop a valid and reliable instrument for measuring attitudes toward osteopathic medicine.

Methods: Participants included 5,669 first-year students from 33 U.S. colleges of osteopathic medicine, who completed an online survey at the beginning of the 2019-2020 academic year. Using data from the nationwide Project in Osteopathic Medical Education and Empathy, we developed a 13-item instrument: Attitudes Toward Osteopathic Medicine Scale (ATOMS) and demonstrated the validity and reliability of its scores. The social desirability response bias was controlled in statistical analyses.

Results: The corrected item-total score correlations were all positive and statistically significant, and the effect sizes of item …


In Vivo Magnetic Resonance Spectroscopy Of Hyperpolarized [1-, Lauren M Smith, Conrad B Pitts, Lanette J Friesen-Waldner, Neetin H Prabhu, Katherine E Mathers, Kevin J Sinclair, Trevor P Wade, Timothy Regnault, Charles A Mckenzie Nov 2021

In Vivo Magnetic Resonance Spectroscopy Of Hyperpolarized [1-, Lauren M Smith, Conrad B Pitts, Lanette J Friesen-Waldner, Neetin H Prabhu, Katherine E Mathers, Kevin J Sinclair, Trevor P Wade, Timothy Regnault, Charles A Mckenzie

Paediatrics Publications

BACKGROUND: Alterations in glycolysis are central to the increasing incidence of non-alcoholic fatty liver disease (NAFLD), highlighting a need for in vivo, non-invasive technologies to understand the development of hepatic metabolic aberrations.

PURPOSE: To use hyperpolarized magnetic resonance spectroscopy (MRS) and proton density fat fraction (PDFF) magnetic resonance imaging (MRI) techniques to investigate the effects of a chronic, life-long exposure to the Western diet (WD) in an animal model resulting in NAFLD; to investigate the hypothesis that exposure to the WD will result in NAFLD in association with altered pyruvate metabolism.

STUDY TYPE: Prospective.

ANIMAL MODEL: Twenty-eight male guinea pigs …


Implementing Stereotactic Accelerated Partial Breast Irradiation Using Magnetic Resonance Guided Radiation Therapy, Alex T Price, William R Kennedy, Lauren E Henke, Sean R Brown, Olga L Green, Maria A Thomas, John Ginn, Imran Zoberi Nov 2021

Implementing Stereotactic Accelerated Partial Breast Irradiation Using Magnetic Resonance Guided Radiation Therapy, Alex T Price, William R Kennedy, Lauren E Henke, Sean R Brown, Olga L Green, Maria A Thomas, John Ginn, Imran Zoberi

2020-Current year OA Pubs

INTRODUCTION: Accelerated partial breast irradiation (APBI) seeks to reduce irradiated volumes and radiation exposure for patients while maintaining acceptable clinical outcomes. Magnetic resonance image-guided radiotherapy (MRgRT) provides excellent soft-tissue contrast for treatment localization, which can reduce setup uncertainty, thus reducing margins in the external beam setting. Additionally, stereotactic body radiotherapy (SBRT)-style regimens with high gradients can also be executed. This MR-guided stereotactic APBI (MRgS-APBI) approach can be utilized for a lower number of fractions and spare a greater volume of healthy tissues compared to conventional 3D external beam APBI.

METHODS: Our MRgS-APBI program was developed for two prospective non-randomized phase …


The Individual Water Insecurity Experiences (Iwise) Scale: Reliability, Equivalence And Validity Of An Individual-Level Measure Of Water Security, Sera L. Young, Hilary J. Bethancourt, Zacchary R. Ritter, Edward A. Frongillo Jr. Oct 2021

The Individual Water Insecurity Experiences (Iwise) Scale: Reliability, Equivalence And Validity Of An Individual-Level Measure Of Water Security, Sera L. Young, Hilary J. Bethancourt, Zacchary R. Ritter, Edward A. Frongillo Jr.

Faculty Publications

Objective: The lack of a validated and cross-culturally equivalent scale for measuring individual-level water insecurity has prevented identification of those most vulnerable to it. Therefore, we developed the 12-item Individual Water InSecurity Experiences (IWISE) Scale to comparably measure individual experiences with access, use, and stability (reliability) of water. Here, we examine the reliability, cross-country equivalence, and cross-country and within-country validity of the scale in a cross-sectional sample.

Methods: IWISE items were implemented by the Gallup World Poll among nationally representative samples of 43 970 adults (15 y) in 31 low-income and middle-income countries (LMICs). Internal consistency was assessed …


Assessing Procedural Pain In Infants: A Feasibility Study Evaluating A Point-Of-Care Mobile Solution Based On Automated Facial Analysis, Kreshnik Hoti, Paola Teresa Chivers, Jeffery David Hughes Oct 2021

Assessing Procedural Pain In Infants: A Feasibility Study Evaluating A Point-Of-Care Mobile Solution Based On Automated Facial Analysis, Kreshnik Hoti, Paola Teresa Chivers, Jeffery David Hughes

Research outputs 2014 to 2021

BACKGROUND: The management of procedural pain in infants is suboptimal, in part, compounded by the scarcity of a simple, accurate, and reliable method of assessing such pain. In this study, we aimed to evaluate the psychometric properties of the PainChek Infant, a point-of-care mobile application that uses automated facial evaluation and analysis in the assessment of procedural pain in infants. METHODS: Video recordings of 40 infants were randomly chosen from a purposely assembled digital library of 410 children undergoing immunisation as part of their standard care in Prishtina, Kosovo, between April 4, 2017, and July 11, 2018. For each infant …


Looking For Consistency In An Uncertain World: Test-Retest Reliability Of Neurophysiological And Behavioral Readouts In Autism., Shlomit Beker, John J Foxe, John Venticinque, Juliana Bates, Elizabeth M Ridgeway, Roseann C Schaaf, Sophie Molholm Sep 2021

Looking For Consistency In An Uncertain World: Test-Retest Reliability Of Neurophysiological And Behavioral Readouts In Autism., Shlomit Beker, John J Foxe, John Venticinque, Juliana Bates, Elizabeth M Ridgeway, Roseann C Schaaf, Sophie Molholm

Department of Occupational Therapy Faculty Papers

BACKGROUND: Autism spectrum disorders (ASD) are associated with altered sensory processing and perception. Scalp recordings of electrical brain activity time-locked to sensory events (event-related potentials; ERPs) provide precise information on the time-course of related altered neural activity, and can be used to model the cortical loci of the underlying neural networks. Establishing the test-retest reliability of these sensory brain responses in ASD is critical to their use as biomarkers of neural dysfunction in this population.

METHODS: EEG and behavioral data were acquired from 33 children diagnosed with ASD aged 6-9.4 years old, while they performed a child-friendly task at two …


Dataset For Study: Reliability Of The Kiersma-Chen Empathy Scale In Health Sciences Students, David B. Gillette, Todd E. Davenport, J. Mark Vanness, Rupa Balachandran, Edward L. Rogan, Deepti Vyas, Suzanne M. Galal, Tracey Delnero, Paul Subar, Elisa Chavez Sep 2021

Dataset For Study: Reliability Of The Kiersma-Chen Empathy Scale In Health Sciences Students, David B. Gillette, Todd E. Davenport, J. Mark Vanness, Rupa Balachandran, Edward L. Rogan, Deepti Vyas, Suzanne M. Galal, Tracey Delnero, Paul Subar, Elisa Chavez

Physical Therapy Faculty & Staff Datasets

Background: Empathy is the ability to understand and identify with another person’s feelings and is important in student development.

Purpose: The purpose of this study was to assess reliability of the Kiersma-Chen Empathy Scale (KCES)[1] and its subscales in health professions students.

Methods: Students in six programs received two administrations. Surveys were matched and deidentified before analysis. Total and subscale homogeneity was assessed using Cronbach’s alpha. Association between subscale and total scores was assessed using Pearson correlation. Total and subscale reliability was determined using two-way intraclass correlation coefficients. Minimum detectable change (MDC95)[2] was calculated.

Results: Two …


Developing Methods To Detect And Diagnose Chronic Traumatic Encephalopathy During Life: Rationale, Design, And Methodology For The Diagnose Cte Research Project, Michael L Alosco, Daniel S Marcus, Et Al. Aug 2021

Developing Methods To Detect And Diagnose Chronic Traumatic Encephalopathy During Life: Rationale, Design, And Methodology For The Diagnose Cte Research Project, Michael L Alosco, Daniel S Marcus, Et Al.

2020-Current year OA Pubs

BACKGROUND: Chronic traumatic encephalopathy (CTE) is a neurodegenerative disease that has been neuropathologically diagnosed in brain donors exposed to repetitive head impacts, including boxers and American football, soccer, ice hockey, and rugby players. CTE cannot yet be diagnosed during life. In December 2015, the National Institute of Neurological Disorders and Stroke awarded a seven-year grant (U01NS093334) to fund the "Diagnostics, Imaging, and Genetics Network for the Objective Study and Evaluation of Chronic Traumatic Encephalopathy (DIAGNOSE CTE) Research Project." The objectives of this multicenter project are to: develop in vivo fluid and neuroimaging biomarkers for CTE; characterize its clinical presentation; refine …


Common Concerns, Barriers To Care, And The Lived Experience Of Individuals With Hepatitis B: A Qualitative Study., Catherine Freeland, Sean Farrell, Priyanka Kumar, Maureen Kamischke, Michaela Jackson, Sierra Bodor, Timothy M Block, Rosemary Frasso Phd, Msc, Cph, Chari Cohen May 2021

Common Concerns, Barriers To Care, And The Lived Experience Of Individuals With Hepatitis B: A Qualitative Study., Catherine Freeland, Sean Farrell, Priyanka Kumar, Maureen Kamischke, Michaela Jackson, Sierra Bodor, Timothy M Block, Rosemary Frasso Phd, Msc, Cph, Chari Cohen

College of Population Health Faculty Papers

BACKGROUND: An estimated between 257 and 292 million people live with chronic HBV globally. While much is known about the causes, and epidemiology of HBV, little is understood about the quality of life and impact of HBV on those living with the infection.

METHODS: A random sample of HBV-related email queries sent to the Hepatitis B Foundation, a U.S.-based non-profit organization, over a 12-month period in 2018-2019 were retrieved, tabulated, and analyzed qualitatively to highlight information needs and explore the experiences of people living with HBV and their families and loved ones. Codebook development was informed by the literature and …


Increasing Metadata Coverage Of Sra Biosample Entries Using Deep Learning-Based Named Entity Recognition, Adam Klie, Brian Y Tsui, Shamim Mollah, Dylan Skola, Michelle Dow, Chun-Nan Hsu, Hannah Carter Apr 2021

Increasing Metadata Coverage Of Sra Biosample Entries Using Deep Learning-Based Named Entity Recognition, Adam Klie, Brian Y Tsui, Shamim Mollah, Dylan Skola, Michelle Dow, Chun-Nan Hsu, Hannah Carter

2020-Current year OA Pubs

High-quality metadata annotations for data hosted in large public repositories are essential for research reproducibility and for conducting fast, powerful and scalable meta-analyses. Currently, a majority of sequencing samples in the National Center for Biotechnology Information's Sequence Read Archive (SRA) are missing metadata across several categories. In an effort to improve the metadata coverage of these samples, we leveraged almost 44 million attribute-value pairs from SRA BioSample to train a scalable, recurrent neural network that predicts missing metadata via named entity recognition (NER). The network was first trained to classify short text phrases according to 11 metadata categories and achieved …


Clinical Validation Of Combinatorial Pharmacogenomic Testing And Single-Gene Guidelines In Predicting Psychotropic Medication Blood Levels And Clinical Outcomes In Patients With Depression, Anthony J Rothschild, Charles R Conway, Et Al. Feb 2021

Clinical Validation Of Combinatorial Pharmacogenomic Testing And Single-Gene Guidelines In Predicting Psychotropic Medication Blood Levels And Clinical Outcomes In Patients With Depression, Anthony J Rothschild, Charles R Conway, Et Al.

2020-Current year OA Pubs

We evaluated the clinical validity of a combinatorial pharmacogenomic test and single-gene Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines against patient outcomes and medication blood levels to assess their ability to inform prescribing in major depressive disorder (MDD). This is a secondary analysis of the Genomics Used to Improve DEpression Decisions (GUIDED) randomized-controlled trial, which included patients with a diagnosis of MDD, and ≥1 prior medication failure. The ability to predict increased/decreased medication metabolism was validated against blood levels at screening (adjusted for age, sex, smoking status). The ability of predicted gene-drug interactions (pharmacogenomic test) or therapeutic recommendations (single-gene guidelines) to …


An Economic And Disease Transmission Model Of Human Papillomavirus And Oropharyngeal Cancer In Texas, Chengxue Zhong, Li Xu, Ho-Lan Peng, Samantha Tam, Li Xu, Kristina R Dahlstrom, Chi-Fang Wu, Shuangshuang Fu, Wenyaw Chan, Erich M Sturgis, Lois M Ramondetta, Libin Rong, David R Lairson, Hongyu Miao Jan 2021

An Economic And Disease Transmission Model Of Human Papillomavirus And Oropharyngeal Cancer In Texas, Chengxue Zhong, Li Xu, Ho-Lan Peng, Samantha Tam, Li Xu, Kristina R Dahlstrom, Chi-Fang Wu, Shuangshuang Fu, Wenyaw Chan, Erich M Sturgis, Lois M Ramondetta, Libin Rong, David R Lairson, Hongyu Miao

Journal Articles

In 2017, 46,157 and 3,127 new oropharyngeal cancer (OPC) cases were reported in the U.S. and Texas, respectively. About 70% of OPC were attributed to human papillomavirus (HPV). However, only 51% of U.S. and 43.5% of Texas adolescents have completed the HPV vaccine series. Therefore, modeling the demographic dynamics and transmission of HPV and OPC progression is needed for accurate estimation of the economic and epidemiological impacts of HPV vaccine in a geographic area. An age-structured population dynamic model was developed for the U.S. state of Texas. With Texas-specific model parameters calibrated, this model described the dynamics of HPV-associated OPC …


Recommended Reporting Items For Epidemic Forecasting And Prediction Research: The Epiforge 2020 Guidelines, Simon Pollett, Michael A. Johansson, Nicholas G. Reich, David Brett-Major, Sara Y. Del Valle, Srinivasan Venkatramanan, Rachel Lowe, Travis Porco, Irina Maljkovic Berry, Alina Deshpande, Moritz U. G. Kraemer, David L. Blazes, Wirichada Pan-Ngum, Alessandro Vespigiani, Suzanne E. Mate, Sheetal P. Silal, Sasikiran Kandula, Rachel Sippy, Talia M. Quandelacy, Jeffrey J. Morgan, Jacob Ball, Lindsay C. Morton, Benjamin M. Althouse, Julie Pavlin, Wilbert Van Panhuis, Steven Riley, Matthew Biggerstaff, Cecile Viboud, Oliver Brady, Caitlin Rivers Jan 2021

Recommended Reporting Items For Epidemic Forecasting And Prediction Research: The Epiforge 2020 Guidelines, Simon Pollett, Michael A. Johansson, Nicholas G. Reich, David Brett-Major, Sara Y. Del Valle, Srinivasan Venkatramanan, Rachel Lowe, Travis Porco, Irina Maljkovic Berry, Alina Deshpande, Moritz U. G. Kraemer, David L. Blazes, Wirichada Pan-Ngum, Alessandro Vespigiani, Suzanne E. Mate, Sheetal P. Silal, Sasikiran Kandula, Rachel Sippy, Talia M. Quandelacy, Jeffrey J. Morgan, Jacob Ball, Lindsay C. Morton, Benjamin M. Althouse, Julie Pavlin, Wilbert Van Panhuis, Steven Riley, Matthew Biggerstaff, Cecile Viboud, Oliver Brady, Caitlin Rivers

Journal Articles: Epidemiology

BACKGROUND: The importance of infectious disease epidemic forecasting and prediction research is underscored by decades of communicable disease outbreaks, including COVID-19. Unlike other fields of medical research, such as clinical trials and systematic reviews, no reporting guidelines exist for reporting epidemic forecasting and prediction research despite their utility. We therefore developed the EPIFORGE checklist, a guideline for standardized reporting of epidemic forecasting research.

METHODS AND FINDINGS: We developed this checklist using a best-practice process for development of reporting guidelines, involving a Delphi process and broad consultation with an international panel of infectious disease modelers and model end users. The objectives …


Crowdsourced Assessment Of Surgical Skill Proficiency In Cataract Surgery, Grace L Paley, Rebecca Grove, Tejas C Sekhar, Jack Pruett, Michael V Stock, Tony N Pira, Steven M Shields, Evan L Waxman, Bradley S Wilson, Mae O Gordon, Susan M Culican Jan 2021

Crowdsourced Assessment Of Surgical Skill Proficiency In Cataract Surgery, Grace L Paley, Rebecca Grove, Tejas C Sekhar, Jack Pruett, Michael V Stock, Tony N Pira, Steven M Shields, Evan L Waxman, Bradley S Wilson, Mae O Gordon, Susan M Culican

2020-Current year OA Pubs

OBJECTIVE: To test whether crowdsourced lay raters can accurately assess cataract surgical skills.

DESIGN: Two-armed study: independent cross-sectional and longitudinal cohorts.

SETTING: Washington University Department of Ophthalmology.

PARTICIPANTS AND METHODS: Sixteen cataract surgeons with varying experience levels submitted cataract surgery videos to be graded by 5 experts and 300+ crowdworkers masked to surgeon experience. Cross-sectional study: 50 videos from surgeons ranging from first-year resident to attending physician, pooled by years of training. Longitudinal study: 28 videos obtained at regular intervals as residents progressed through 180 cases. Surgical skill was graded using the modified Objective Structured Assessment of Technical Skill (mOSATS). …