Digital Commons Network^™

Pedagogical Prisms: Toward Domain Isomorphic Analogy Design For Relevance And Engagement In Computing Education, Briana Christina Bettin, Linda Ott

Michigan Tech Publications

Analogy is a frequently leveraged pedagogical tool used across many disciplines, with computing being no exception. Computing education researchers, however, have raised concerns regarding the limitations of analogy. One obvious concern is the relevance of any given analogy to learners. Designing relevant analogies can greatly increase student engagement with the problem space by centering examples on their lived experiences. Relevant analogies can also facilitate learners in building appropriate connections as they explore novel concepts. Designing relevant analogies is an ongoing process which requires understanding the learners' context. It is unlikely that any given analogy will be "universally"relevant across learners, problems, …

Neuroevolution Application To Collaborative And Heuristics-Based Connected And Autonomous Vehicle Cohort Simulation At Uncontrolled Intersection, Frederic Jacquelin, Jungyun Bae, Bo Chen, Darrell Robinette

Michigan Tech Publications

Artificial intelligence is gaining tremendous attractiveness and showing great success in solving various problems, such as simplifying optimal control derivation. This work focuses on the application of Neuroevolution to the control of Connected and Autonomous Vehicle (CAV) cohorts operating at uncontrolled intersections. The proposed method implementation’s simplicity, thanks to the inclusion of heuristics and effective real-time performance are demonstrated. The resulting architecture achieves nearly ideal operating conditions in keeping the average speeds close to the speed limit. It achieves twice as high mean speed throughput as a controlled intersection, hence enabling lower travel time and mitigating energy inefficiencies from stop-and-go …

Protein Phosphatase 1 Γ Modulates Steady-State Bad Phosphorylation And Murine Platelet Survival, Masahiro Yanagisawa, Hyojeong Han, Subhashree Pradhan, Tanvir Khatlani, Deepika Subramanyam, K Vinod Vijayan

Faculty, Staff and Students Publications

No abstract provided.

Defining Myocardial Infarction In Trials Of People Receiving Hemodialysis: Consensus Report From The Song-Hd Mi Expert Working Group, Emma O'Lone, Fred S Apple, James O Burton, Fergus J Caskey, Jonathan C Craig, Christopher R Defilippi, Derek Forfang, Karen A Hicks, Vivekanand Jha, Kenneth W Mahaffey, Patrick B Mark, Patrick Rossignol, Nicole Scholes-Robertson, Allison Jaure, Andrea K Viecelli, Angela Y Wang, David C Wheeler, David White, Wolfgang C Winkelmayer, Charles A Herzog

Faculty, Staff and Students Publications

Cardiovascular disease is the leading cause of death in patients receiving hemodialysis. Currently, there is no standardized definition of myocardial infarction (MI) for patients receiving hemodialysis. Through an international consensus process MI was established as the core CVD measure for this population in clinical trials. The Standardised Outcomes in Nephrology Group-Hemodialysis (SONG-HD) initiative convened a multidisciplinary, international working group to address the definition of MI in this population. On the basis of current evidence, the working group recommends using the Fourth Universal Definition of Myocardial Infarction with specific caveats with regard to the interpretation of "ischemic symptoms" and performing a …

An International Delphi Consensus Statement On Metabolic Dysfunction-Associated Fatty Liver Disease And Risk Of Chronic Kidney Disease, Dan-Qin Sun, Giovanni Targher, Christopher D Byrne, David C Wheeler, Vincent Wai-Sun Wong, Jian-Gao Fan, Herbert Tilg, Wei-Jie Yuan, Christoph Wanner, Xin Gao, Michelle T Long, Mehmet Kanbay, Mindie H Nguyen, Sankar D Navaneethan, Yusuf Yilmaz, Yuli Huang, Rino A Gani, Pierluigi Marzuillo, Jérôme Boursier, Huijie Zhang, Chan-Young Jung, Jin Chai, Luca Valenti, George Papatheodoridis, Giovanni Musso, Yu-Jun Wong, Mohamed El-Kassas, Nahum Méndez-Sánchez, Silvia Sookoian, Michael Pavlides, Ajay Duseja, Adriaan G Holleboom, Junping Shi, Wah-Kheong Chan, Yasser Fouad, Junwei Yang, Sombat Treeprasertsuk, Helena Cortez-Pinto, Masahide Hamaguchi, Manuel Romero-Gomez, Mamun Al Mahtab, Ponsiano Ocama, Atsushi Nakajima, Chunsun Dai, Mohammed Eslam, Lai Wei, Jacob George, Ming-Hua Zheng

Faculty, Staff and Students Publications

BACKGROUND: With the rising global prevalence of fatty liver disease related to metabolic dysfunction, the association of this common liver condition with chronic kidney disease (CKD) has become increasingly evident. In 2020, the more inclusive term metabolic dysfunction-associated fatty liver disease (MAFLD) was proposed to replace the term non-alcoholic fatty liver disease (NAFLD). The observed association between MAFLD and CKD and our understanding that CKD can be a consequence of underlying metabolic dysfunction support the notion that individuals with MAFLD are at higher risk of having and developing CKD compared with those without MAFLD. However, to date, there is no …

Impact Of Race And Ethnicity On Presentation And Outcomes Of Patients Treated On Rhabdomyosarcoma Clinical Trials: A Report From The Children’S Oncology Group, Senna R Munnikhuysen, Princess A Ekpo, Wei Xue, Zhengya Gao, Philip J Lupo, Rajkumar Venkatramani, Christine M Heske

Faculty, Staff and Students Publications

BACKGROUND: Racial and ethnic disparities have been demonstrated in pediatric and adult cancers. However, there is no consensus on whether such disparities exist in the presentation, treatment, and outcome of patients with rhabdomyosarcoma (RMS).

METHODS: Patient information from the seven most recent RMS clinical trials was obtained from the Children's Oncology Group (COG). Chi-squared analyses were used to compare patient, tumor, and treatment characteristics across racial and ethnic groups. Pairwise analyses comparing Non-Hispanic Black (NHB) versus Non-Hispanic White (NHW) racial groups and Hispanic versus NHW ethnic groups were conducted for significant characteristics. Kaplan-Meier method and Wilcoxon signed-rank tests were performed …

Preterm Birth Alters The Feeding-Induced Activation Of Akt Signaling In The Muscle Of Neonatal Piglets, Agus Suryawan, Marko Rudar, Jane K Naberhuis, Marta L Fiorotto, Teresa A Davis

Faculty, Staff and Students Publications

BACKGROUND: Postnatal lean mass accretion is commonly reduced in preterm infants. This study investigated mechanisms involved in the blunted feeding-induced activation of Akt in the skeletal muscle of preterm pigs that contributes to lower protein synthesis rates.

METHODS: On day 3 following cesarean section, preterm and term piglets were fasted or fed an enteral meal. Activation of Akt signaling pathways in skeletal muscle was determined.

RESULTS: Akt1 and Akt2, but not Akt3, phosphorylation were lower in the skeletal muscle of preterm than in term pigs (P < 0.05). Activation of Akt-positive regulators, PDK1 and mTORC2, but not FAK, were lower in preterm than in term (P < 0.05). The formation of Akt complexes with GAPDH and Hsp90 and the abundance of Ubl4A were lower in preterm than in term (P < 0.05). The abundance of Akt inhibitors, PHLPP and SHIP2, but not PTEN and IP6K1, were higher in preterm than in term pigs (P < 0.05). PP2A activation was inhibited by feeding in term but not in preterm pigs (P < 0.05).

CONCLUSIONS: Our results suggest that preterm birth impairs regulatory components involved in Akt activation, …

Derivation And Validation Of A Clinical Risk Assessment Model For Cancer-Associated Thrombosis In Two Unique Us Health Care Systems, Ang Li, Jennifer La, Sarah B May, Danielle Guffey, Wilson L Da Costa, Christopher I Amos, Raka Bandyo, Emily M Milner, Karen M Kurian, Daniel C R Chen, Nhan V Do, Carolina Granada, Nimrah Riaz, Mary T Brophy, Vipul Chitalia, J Michael Gaziano, David A Garcia, Marc Carrier, Christopher R Flowers, Neil A Zakai, Nathanael R Fillmore

Faculty, Staff and Students Publications

PURPOSE: Venous thromboembolism (VTE), especially pulmonary embolism (PE) and lower extremity deep vein thrombosis (LE-DVT), is a serious and potentially preventable complication for patients with cancer undergoing systemic therapy.

METHODS: Using retrospective data from patients diagnosed with incident cancer from 2011-2020, we derived a parsimonious risk assessment model (RAM) using least absolute shrinkage and selection operator regression from the Harris Health System (HHS, n = 9,769) and externally validated it using the Veterans Affairs (VA) health care system (n = 79,517). Bootstrapped c statistics and calibration curves were used to assess external model discrimination and fit. Dichotomized risk strata using …

Optimising Clinical Care Through Cdh1-Specific Germline Variant Curation: Improvement Of Clinical Assertions And Updated Curation Guidelines, Xi Luo, Jamie L Maciaszek, Bryony A Thompson, Huei San Leong, Katherine Dixon, Sónia Sousa, Michael Anderson, Maegan E Roberts, Kristy Lee, Amanda B Spurdle, Arjen R Mensenkamp, Terra Brannan, Carolina Pardo, Liying Zhang, Tina Pesaran, Sainan Wei, Grace-Ann Fasaye, Chimene Kesserwan, Brian H Shirts, Jeremy L Davis, Carla Oliveira, Sharon E Plon, Kasmintan A Schrader, Rachid Karam, Clingen Cdh1 Variant Curation Expert Panel

Faculty, Staff and Students Publications

BACKGROUND: Germline pathogenic variants in CDH1 are associated with increased risk for diffuse gastric cancer and lobular breast cancer. Risk-reduction strategies include consideration of prophylactic surgery, thereby making accurate interpretation of germline CDH1 variants critical for physicians deciding upon these procedures. The Clinical Genome Resource (ClinGen) CDH1 Variant Curation Expert Panel (VCEP) developed specifications for CDH1 variant curation with a goal to resolve variants of uncertain significance (VUS) and with ClinVar conflicting interpretations and continues to update these specifications.

METHODS:CDH1 variant classification specifications were modified based on updated genetic testing clinical criteria, new recommendations from ClinGen, and expert knowledge …

Mouse Models Of Spontaneous Atrial Fibrillation, Joshua A Keefe, Mohit M Hulsurkar, Svetlana Reilly, Xander H T Wehrens

Faculty, Staff and Students Publications

Atrial fibrillation (AF) is the most common arrhythmia in adults, with a prevalence increasing with age. Current clinical management of AF is focused on tertiary prevention (i.e., treating the symptoms and sequelae) rather than addressing the underlying molecular pathophysiology. Robust animal models of AF, particularly those that do not require supraphysiologic stimuli to induce AF (i.e., showing spontaneous AF), enable studies that can uncover the underlying mechanisms of AF. Several mouse models of AF have been described to exhibit spontaneous AF, but pathophysiologic drivers of AF differ among models. Here, we describe relevant AF mechanisms and provide an overview of …

A Multisite Retrospective Review Of Direct Oral Anticoagulants Compared To Warfarin In Adult Fontan Patients, Amir Kazerouninia, Justin Georgekutty, Payton Kendsersky, Ryan D Byrne, Brendan Seto, Patricia Y Chu, Yunfei Wang, Fred H Rodriguez, Clayton Smith, Anita Saraf, Michael S Lloyd, Benjamin P Frischhertz, Dhaval R Parekh, Peter R Ermis, Wayne J Franklin, Wilson W Lam

Faculty, Staff and Students Publications

PURPOSE: Direct oral anticoagulants (DOACs) are not recommended in adult Fontan patients (Level of Evidence C). We hypothesized that DOACs are comparable to warfarin and do not increase thrombotic and embolic complications (TEs) or clinically significant bleeds.

METHODS: We reviewed the medical records of adult Fontan patients on DOACs or warfarin at three major medical centers. We identified 130 patients: 48 on DOACs and 107 on warfarin. In total, they were treated for 810 months on DOACs and 5637 months on warfarin.

RESULTS: The incidence of TEs in patients on DOACs compared to those on warfarin was not increased in …

Family, Work, Economy, Or Social Policy: Examining Poverty Among Children Of Single Mothers In Affluent Democracies Between 1985-2016, Amie Bostic

Sociology Faculty Publications

Children of single mothers face higher rates of poverty than children in two-parent households in practically every affluent democracy. While this difference is widely acknowledged, there is little consensus regarding the causes of their poverty and, as a result, little consensus on the best way to address poverty among these children. Explanations include both individual-level, structural, and political explanations in four areas: family structure, labor force activity, economic performance, and welfare generosity. Previous research, however, tends to focus on only one of these four aspects at a time. Using data from the Luxembourg Income Study and the Organisation for Economic …

Diagnostic Testing For Evaluation Of Brief Resolved Unexplained Events, Manoj K Mittal, Joel S Tieder, Kathryn Westphal, Erin Sullivan, Matt Hall, Risa Bochner, Adam Cohen, Jennifer Y Colgan, Atima C Delaney, Amy M Delaroche, Thomas Graf, Beth Harper, Ron L Kaplan, Hannah C Neubauer, Mark I Neuman, Nirav Shastri, Victoria Wilkins, Allayne Stephans

Faculty, Staff and Students Publications

Background: Since the publication of the American Academy of Pediatrics (AAP) clinical practice guideline for brief resolved unexplained events (BRUEs), a few small, single-center studies have suggested low yield of diagnostic testing in infants presenting with such an event. We conducted this large retrospective multicenter study to determine the role of diagnostic testing in leading to a confirmatory diagnosis in BRUE patients.

Methods: Secondary analysis from a large multicenter cohort derived from 15 hospitals participating in the BRUE Quality Improvement and Research Collaborative. The study subjects were infants < 1 year of age presenting with a BRUE to the emergency departments (EDs) of these hospitals between October 1, 2015, and September 30, 2018. Potential BRUE cases were identified using a validated algorithm that relies on administrative data. Chart review was conducted to confirm study inclusion/exclusion, AAP risk criteria, final diagnosis, and contribution of test results. Findings were stratified by ED or hospital discharge and AAP risk criteria. For each patient, we identified whether any diagnostic test contributed to the final diagnosis. We distinguished true (contributory) results from false-positive results.

Results: Of 2036 patients meeting study criteria, 63.2% were hospitalized, 87.1% qualified …

Novatest: Identifying Genes With Location-Dependent Noise Variance In Spatial Transcriptomics Data, Mohammed Abid Abrar, M Kaykobad, M Saifur Rahman, Md Abul Hassan Samee

Faculty, Staff and Students Publications

Motivation: Spatial transcriptomics (ST) can reveal the existence and extent of spatial variation of gene expression in complex tissues. Such analyses could help identify spatially localized processes underlying a tissue's function. Existing tools to detect spatially variable genes assume a constant noise variance across spatial locations. This assumption might miss important biological signals when the variance can change across locations.

Results: In this article, we propose NoVaTeST, a framework to identify genes with location-dependent noise variance in ST data. NoVaTeST models gene expression as a function of spatial location and allows the noise to vary spatially. NoVaTeST then statistically compares …

Assessing The Contributions Of Modifiable Risk Factors To Serious Falls And Fragility Fractures Among Older Persons Living With Hiv, Julie A Womack, Terrence E Murphy, Linda Leo-Summers, Jonathan Bates, Samah Jarad, Thomas M Gill, Evelyn Hsieh, Maria C Rodriguez-Barradas, Phyllis C Tien, Michael T Yin, Cynthia A Brandt, Amy C Justice

Faculty, Staff and Students Publications

BACKGROUND: Although 50 years represents middle age among uninfected individuals, studies have shown that persons living with HIV (PWH) begin to demonstrate elevated risk for serious falls and fragility fractures in the sixth decade; the proportions of these outcomes attributable to modifiable factors are unknown.

METHODS: We analyzed 21,041 older PWH on antiretroviral therapy (ART) from the Veterans Aging Cohort Study from 01/01/2010 through 09/30/2015. Serious falls were identified by Ecodes and a machine-learning algorithm applied to radiology reports. Fragility fractures (hip, vertebral, and upper arm) were identified using ICD9 codes. Predictors for both models included a serious fall within …

Alterations In The Circulating Proteome Associated With Albuminuria, Elizabeth Kiernan, Aditya Surapaneni, Linda Zhou, Pascal Schlosser, Keenan A Walker, Eugene P Rhee, Christie M Ballantyne, Rajat Deo, Ruth F Dubin, Peter Ganz, Josef Coresh, Morgan E Grams

Faculty, Staff and Students Publications

Significance statement: We describe circulating proteins associated with albuminuria in a population of African American Study of Kidney Disease and Hypertension with CKD (AASK) using the largest proteomic platform to date: nearly 7000 circulating proteins, representing approximately 2000 new targets. Findings were replicated in a subset of a general population cohort with kidney disease (ARIC) and a population with CKD Chronic Renal Insufficiency Cohort (CRIC). In cross-sectional analysis, 104 proteins were significantly associated with albuminuria in the Black group, of which 67 of 77 available proteins were replicated in ARIC and 68 of 71 available proteins in CRIC. LMAN2, TNFSFR1B, …

Dementias Among Older Males And Females In The U.S. Medicare System With And Without Hiv, Xiaoying Yu, Yong-Fang Kuo, Mukaila A Raji, Abbey B Berenson, Jacques Baillargeon, Thomas P Giordano

Faculty, Staff and Students Publications

Background: Despite the growing concern that people with HIV (PWH) will experience a disproportionate burden of dementia as they age, very few studies have examined the sex-specific prevalence of dementia, including Alzheimer disease and related dementias (AD/ADRD) among older PWH versus people without HIV (PWOH) using large national samples.

Methods: We constructed successive cross-sectional cohorts including all PWH aged 65+ years from U.S. Medicare enrollees and PWOH in a 5% national sample of Medicare data from 2007 to 2019. All AD/ADRD cases were identified by ICD-9-CM/ICD-10-CM diagnosis codes. Prevalence of AD/ADRD was calculated for each calendar year by sex-age strata. …

Evolution Of Cisplatin Resistance Through Coordinated Metabolic Reprogramming Of The Cellular Reductive State, Wangie Yu, Yunyun Chen, Nagireddy Putluri, Abdullah Osman, Cristian Coarfa, Vasanta Putluri, Abu H M Kamal, Jennifer Kay Asmussen, Panagiotis Katsonis, Jeffrey N Myers, Stephen Y Lai, Wuhao Lu, Clifford C Stephan, Reid T Powell, Faye M Johnson, Heath D Skinner, Jawad Kazi, Kazi Mokim Ahmed, Linghao Hu, Addison Threet, Matthew D Meyer, James A Bankson, Tony Wang, Jack Davis, Kirby R Parker, Madison A Harris, Mokryun L Baek, Gloria V Echeverria, Xiaoli Qi, Jin Wang, Andy I Frederick, Alex J Walsh, Olivier Lichtarge, Mitchell J Frederick, Vlad C Sandulache

Faculty, Staff and Student Publications

BACKGROUND: Cisplatin (CDDP) is a mainstay treatment for advanced head and neck squamous cell carcinomas (HNSCC) despite a high frequency of innate and acquired resistance. We hypothesised that tumours acquire CDDP resistance through an enhanced reductive state dependent on metabolic rewiring.

METHODS: To validate this model and understand how an adaptive metabolic programme might be imprinted, we performed an integrated analysis of CDDP-resistant HNSCC clones from multiple genomic backgrounds by whole-exome sequencing, RNA-seq, mass spectrometry, steady state and flux metabolomics.

RESULTS: Inactivating KEAP1 mutations or reductions in KEAP1 RNA correlated with Nrf2 activation in CDDP-resistant cells, which functionally contributed to …

Expanding Narrative Medicine Through The Collaborative Construction And Compelling Performance Of Stories, Woods Nash, Mgbechi Erondu, Andrew Childress

Center for Medical Ethics and Health Policy Staff Publications

This essay proposes an expansion of the concept of narrative competence, beyond close reading, to include two more skills: the collaborative construction and compelling performance of stories. To show how this enhanced form of narrative competence can be attained, the essay describes Off Script, a cocurricular medical storytelling program with three phases: 1) creative writing workshop, 2) dress rehearsal, and 3) public performance of stories. In these phases, Off Script combines literary studies, creative writing, reflective practice, collegial feedback, and drama. With increased narrative competence, Off Script participants are likely better equipped to engage in more impactful health advocacy and …

Physiological Age By Artificial Intelligence-Enhanced Electrocardiograms As A Novel Risk Factor Of Mortality In Kidney Transplant Candidates, Elizabeth C Lorenz, Isabella Zaniletti, Bradley K Johnson, Tanya M Petterson, Walter K Kremers, Carrie A Schinstock, Hatem Amer, Andrea L Cheville, Nathan K Lebrasseur, Wolfgang C Winkelmayer, Sankar D Navaneethan, Abraham Baez-Suarez, Zachi I Attia, Francisco Lopez-Jimenez, Paul A Friedman, Cassie C Kennedy, Andrew D Rule

Faculty, Staff and Students Publications

BACKGROUND: Mortality risk assessment before kidney transplantation (KT) is imperfect. An emerging risk factor for death in nontransplant populations is physiological age as determined by the application of artificial intelligence to the electrocardiogram (ECG). The aim of this study was to examine the relationship between ECG age and KT waitlist mortality.

METHODS: We applied a previously developed convolutional neural network to the ECGs of KT candidates evaluated 2014 to 2019 to determine ECG age. We used a Cox proportional hazard model to examine whether ECG age was associated with waitlist mortality.

RESULTS: Of the 2183 patients evaluated, 59.1% were male, …

Prognostic Value Of Severe Acute Respiratory Syndrome Coronavirus-2 Viral Load And Antibodies In Patients Hospitalized With Covid-19, Rebecca N Bauer, Anastasia Teterina, Haridha Shivram, Jacqueline Mcbride, Carrie M Rosenberger, Fang Cai, Min Bao, Larry Tsai, Oliver Gordon, Ivan T Lee, Jeffrey J Wallin, Danielle Porter, Kavita Juneja, Gregory Camus, Ivan O Rosas, Steffen Wildum

Faculty, Staff and Students Publications

Observational studies have identified the potential prognostic value for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) viral load and anti-SARS-CoV-2 antibodies in coronavirus disease 2019 (COVID-19). However, viral load in nasopharyngeal (NP) swabs produced inconsistent results in prognostic analyses, and the prognostic value of viral load or antibodies has not been confirmed in large clinical trials. COVACTA and REMDACTA were double-blind, randomized, controlled trials with a combined enrollment of 1078 patients hospitalized with COVID-19 treated with tocilizumab or placebo in COVACTA or tocilizumab plus remdesivir or placebo plus remdesivir in REMDACTA. We assessed the potential prognostic value of NP and serum …

Longer Time To Recovery From Acute Kidney Injury Is Associated With Major Adverse Kidney Events In Patients With Cirrhosis, Kavish R Patidar, Mobasshir A Naved, Shaowli Kabir, Ananth Grama, Andrew S Allegretti, Giuseppe Cullaro, Sumeet K Asrani, Astin Worden, Archita P Desai, Marwan S Ghabril, Lauren D Nephew, Eric S Orman

Faculty, Staff and Students Publications

BACKGROUND: In patients with cirrhosis and acute kidney injury (AKI), longer time to AKI-recovery may increase the risk of subsequent major-adverse-kidney-events (MAKE).

AIMS: To examine the association between timing of AKI-recovery and risk of MAKE in patients with cirrhosis.

METHODS: Hospitalised patients with cirrhosis and AKI (n = 5937) in a nationwide database were assessed for time to AKI-recovery and followed for 180-days. Timing of AKI-recovery (return of serum creatinine7-days. Primary outcome was MAKE at 90-180-days. MAKE is an accepted clinical endpoint in AKI and defined as the composite outcome of ≥25% decline in estimated-glomerular-filtration-rate (eGFR) compared with baseline with …

Economic Evaluation Of Route Choice Characteristics For Company Truck Drivers And Owner-Operator Truck Drivers In Southern California Freeways, Joseph J. Kim, Jose Alejandro Arroyo Turcios

Mineta Transportation Institute

To contribute to the understanding of freeway capacity and financing options, this study evaluates the demand for truck-only toll lanes on Southern California freeways. The study implemented surveys to both company truck drivers and owner-operator truck drivers to estimate the value they place on time, reliability, and safety measures. The research team met face-to-face with both types of truck drivers near the Ports of Los Angeles and Long Beach to understand the drivers’ perspectives regarding truck-only toll lanes on Southern California freeways. A data set containing 45 surveys out of 62 survey responses were used for statistical analysis. The results …

Strategies For Recruiting Underrepresented In Medicine And Sexual And Gender Minority Students To Emergency Medicine, Lauren T Wilson, Benjamin Weigel, Edgardo Ordonez, Navdeep Sekhon, Adedoyin Adesina, Anisha Turner, Aleksandr M Tichter, Sarah Bezek, Ynhi T Thomas

Faculty, Staff and Students Publications

BACKGROUND: Despite having well-described benefits, diversifying the physician workforce has been an ongoing challenge. Within emergency medicine (EM), multiple professional organizations have identified expanding diversity and inclusion as top priorities. The following is a description of an interactive session held at the SAEM annual meeting addressing recruitment strategies for underrepresented in medicine (URiM) and sexual and gender minority (SGM) students into EM.

METHODS: During the session, the authors provided an overview of the current state of diversity in EM. In the small-group portion of the session, a facilitator helped characterize the challenges programs face in recruiting URiM and SGM students. …

Snv/Indel Hypermutator Phenotype In Biallelic Rad51c Variant: Fanconi Anemia, Roni Zemet, Haowei Du, Tomasz Gambin, James R Lupski, Pengfei Liu, Paweł Stankiewicz

Faculty, Staff and Students Publications

We previously reported a fetus with Fanconi anemia (FA), complementation group O due to compound heterozygous variants involving RAD51C. Interestingly, the trio exome sequencing analysis also detected eight apparent de novo mosaic variants with variant allele fraction (VAF) ranging between 11.5 and 37%. Here, using whole genome sequencing and a 'home-brew' variant filtering pipeline and DeepMosaic module, we investigated the number and signature of de novo heterozygous and mosaic variants and the hypothesis of a rare phenomenon of hypermutation. Eight-hundred-thirty apparent de novo SNVs and 21 de novo indels had VAFs below 37.41% and were considered postzygotic somatic mosaic variants. …

Vigorous Exercise In Patients With Hypertrophic Cardiomyopathy, Rachel Lampert, Michael J Ackerman, Bradley S Marino, Matthew Burg, Barbara Ainsworth, Lisa Salberg, Maria Teresa Tome Esteban, Carolyn Y Ho, Roselle Abraham, Seshadri Balaji, Cheryl Barth, Charles I Berul, Martijn Bos, David Cannom, Lubna Choudhury, Maryann Concannon, Robert Cooper, Richard J Czosek, Anne M Dubin, James Dziura, Benjamin Eidem, Michael S Emery, N A Mark Estes, Susan P Etheridge, Jeffrey B Geske, Belinda Gray, Kevin Hall, Kimberly G Harmon, Cynthia A James, Ashwin K Lal, Ian H Law, Fangyong Li, Mark S Link, William J Mckenna, Silvana Molossi, Brian Olshansky, Steven R Ommen, Elizabeth V Saarel, Sara Saberi, Laura Simone, Gordon Tomaselli, James S Ware, Douglas P Zipes, Sharlene M Day, Live Consortium

Faculty, Staff and Students Publications

IMPORTANCE: Whether vigorous intensity exercise is associated with an increase in risk of ventricular arrhythmias in individuals with hypertrophic cardiomyopathy (HCM) is unknown.

OBJECTIVE: To determine whether engagement in vigorous exercise is associated with increased risk for ventricular arrhythmias and/or mortality in individuals with HCM. The a priori hypothesis was that participants engaging in vigorous activity were not more likely to have an arrhythmic event or die than those who reported nonvigorous activity.

DESIGN, SETTING, AND PARTICIPANTS: This was an investigator-initiated, prospective cohort study. Participants were enrolled from May 18, 2015, to April 25, 2019, with completion in February 28, …

Promoting Rapid Vaccine Science Education At The Onset Of The Covid-19 Pandemic, Davida S. Smyth, Trace Jordan, Robert Seiser, Et Al.

All Faculty Scholarship (Archived)

At the onset of the 2019 coronavirus disease (COVID-19) pandemic, it was clear that we needed to support public education on the science of vaccines. This project was born of that need and led to the development of comprehensive educational materials that addressed the process of science, severe acute respiratory syndrome coronavirus 2 biology, vaccine development, and science communication and outreach. Called the “Online Vaccine Science Resources for COVID-19 Education,” the materials generated were designed to be implemented by educators and community groups in various contexts. They took the form of four modules and general audience informational videos available on …

X-Linked Variations In Shroom4 Are Implicated In Congenital Anomalies Of The Urinary Tract And The Anorectal, Cardiovascular And Central Nervous Systems, Caroline M. Kolvenbach, Tim Felger, Luca Schierbaum, Isabelle Thiffault, T Pastinen, Maria Szczepańska, Marcin Zaniew, Piotr Adamczyk, Allan Bayat, Öznur Yilmaz, Tobias T. Lindenberg, Holger Thiele, Friedhelm Hildebrandt, Katrin Hinderhofer, Ute Moog, Alina C Hilger, Bonnie Sullivan, Lauren E. Bartik, Piotr Gnyś, Phillip Grote, Benjamin Odermatt, Heiko M. Reutter, Gabriel C. Dworschak

Manuscripts, Articles, Book Chapters and Other Papers

Background: SHROOM4 is thought to play an important role in cytoskeletal modification and development of the early nervous system. Previously, single-nucleotide variants (SNVs) or copy number variations (CNVs) in SHROOM4 have been associated with the neurodevelopmental disorder Stocco dos Santos syndrome, but not with congenital anomalies of the urinary tract and the visceral or the cardiovascular system.

Methods: Here, exome sequencing and CNV analyses besides expression studies in zebrafish and mouse and knockdown (KD) experiments using a splice blocking morpholino in zebrafish were performed to study the role of SHROOM4 during embryonic development.

Results: In this study, we identified putative …

Recruitment And Reach In A School-Based Pediatric Obesity Intervention Trial In Rural Areas., Bethany Forseth, Brittany Lancaster, Megan Olalde, Christie A. Befort, Rebecca E. Swinburne Romine, Meredith Dreyer, Kelsey Dean, Eve-Lynn Nelson, Ann M. Davis

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: The purpose of this study is to evaluate two recruitment strategies on schools and participant participation rates and representativeness (reach) within a pediatric obesity treatment trial tailored for families who live in rural areas.

METHODS: Recruitment of schools was evaluated based on their progress toward enrolling participants. Recruitment and reach of participants were evaluated using (1) participation rates and (2) representativeness of demographics and weight status of participants compared to eligible participants (who did not consent and enroll) and all students (regardless of eligibility). School recruitment, as well as participant recruitment and reach, were evaluated across recruitment methods comparing …

Climate Change Imperils Pediatric Health: Child Advocacy Through Fossil Fuel Divestment., Sandra H. Jee, Elizabeth Friedman, Ruth A. Etzel, Vi T. Nguyen, Todd L. Sack, Kathi J. Kemper

Manuscripts, Articles, Book Chapters and Other Papers

Climate change poses an existential threat to children's health. Divestment of ownership stakes in fossil fuel companies is one tool available to pediatricians to address climate change. Pediatricians are trusted messengers regarding children's health and therefore bear a unique responsibility to advocate for climate and health policies that affect children. Among the impacts of climate change on pediatric patients are allergic rhinitis and asthma; heat-related illnesses; premature birth; injuries from severe storms and fires; vector-borne diseases; and mental illnesses. Children are disproportionately affected as well by climate-related displacement of populations, drought, water shortages, and famine. The human-generated burning of fossil …