Medicine and Health Sciences Commons^™

Multifocal Retinocytoma Associated With Intronic Acceptor Splice Site Variants In The Rb1 Gene, Jennifer Li-Wang, Patricia Chévez-Barrios, Jessica S Thomas, Amy C Schefler

Faculty, Staff and Students Publications

Retinocytomas are benign tumors that arise from mutations in the RB1 gene. Previous research describes the appearance of retinocytomas as that of treated retinoblastoma (Rb) lesions, with characteristics such as chorioretinal atrophy, calcification, and a lack of necrosis or mitotic activity on histopathology. We present the unusual case of an asymptomatic seven-year-old girl with two independent translucent masses in the peripheral retina of the right eye (OD) and extensive intraretinal tumor and vitreous seeds. Initial fundus examination and B-scan ultrasonography documented the two lesions with extensive placoid intraretinal tumor, uncalcified vitreous seeds, and an area of large subhyaloid seed on …

Pancreatic Enzyme Use Reduces Pancreatitis Frequency In Children With Acute Recurrent Or Chronic Pancreatitis: A Report From Insppire, Alvin Jay Freeman, Kenneth Ng, Fuchenchu Wang, Maisam A Abu-El-Haija, Ankur Chugh, Gretchen A Cress, Douglas S Fishman, Cheryl E Gariepy, Matthew J Giefer, Praveen Goday, Tanja Y Gonska, Amit S Grover, Douglas Lindblad, Quin Y Liu, Asim Maqbool, Jacob A Mark, Brian A Mcferron, Megha S Mehta, Veronique D Morinville, Robert A Noel, Chee Y Ooi, Emily R Perito, Sarah Jane Schwarzenberg, Zachary M Sellers, Michael Wilschanski, Yuhua Zheng, Ying Yuan, Dana K Andersen, Mark E Lowe, Aliye Uc, Consortium For The Study Of Chronic Pancreatitis, Diabetes, And Pancreatic Cancer (Cpdpc)

Faculty, Staff and Students Publications

Introduction: Among children who suffer from acute recurrent pancreatitis (ARP) or chronic pancreatitis (CP), acute pancreatitis (AP) episodes are painful, often require hospitalization, and contribute to disease complications and progression. Despite this recognition, there are currently no interventions to prevent AP episodes. In this retrospective cohort study, we assessed the impact of pancreatic enzyme therapy (PERT) use on clinical outcomes among children with pancreatic-sufficient ARP or CP.

Methods: Children with pancreatic-sufficient ARP or CP in the INSPPIRE-2 cohort were included. Clinical outcomes were compared for those receiving vs not receiving PERT, as well as frequency of AP before and after …

Correspondence Re Essam El-Sayed Felaya Et Al, Kiyeun Nam, Dongho Lee, Seokjoon Hwang, Minsu Seo, Taeheon Lee, Yonghoon Lee, Michael Y Lee

Faculty, Staff and Students Publications

No abstract provided.

Mutant Npm1 Marginally Impacts Ribosome Footprint In Acute Myeloid Leukemia Cells, Lorenzo Brunetti, Giulia Pianigiani, Michael C Gundry, Margaret A Goodell, Brunangelo Falini

Faculty, Staff and Students Publications

BACKGROUND:NPM1‐mutated acute myeloid leukemia (AML) is the most frequent AML subtype. As wild‐type NPM1 is known to orchestrate ribosome biogenesis, it has been hypothesized that altered translation may contribute to leukemogenesis and leukemia maintenance in NPM1‐mutated AML. However, this hypothesis has never been investigated. We reasoned that if mutant NPM1 (NPM1c) directly impacts translation in leukemic cells, loss of NPM1c would result in acute changes in the ribosome footprint.

METHODS: Here, we performed ribosome footprint profiling (Ribo-seq) and bulk messenger RNA (mRNA) sequencing in two

RESULTS AND DISCUSSION: Incubation of degron cells with the small compound dTAG-13 …

Influenza C Virus In Us Children With Acute Respiratory Infection 2016–2019, Bethany K Sederdahl, Geoffrey A Weinberg, Angela P Campbell, Rangaraj Selvarangan, Jennifer E Schuster, Joana Y Lively, Samantha M Olson, Julie A Boom, Pedro A Piedra, Natasha B Halasa, Laura Stewart, Peter G Szilagyi, G K Balasubramani, Theresa Sax, Judith M Martin, Robert W Hickey, Marian G Michaels, John V Williams, New Vaccine Surveillance Network

Faculty, Staff and Students Publications

Influenza C virus (ICV) is an orthomyxovirus related to influenza A and B, yet due to few commercial assays, epidemiologic studies may underestimate incidence of ICV infection and disease. We describe the epidemiology and characteristics of ICV within the New Vaccine Surveillance Network (NVSN), a Centers for Disease Control and Prevention (CDC)-led network that conducts population-based surveillance for pediatric acute respiratory illness (ARI). Nasal or/combined throat swabs were collected from emergency department (ED) or inpatient ARI cases, or healthy controls, between 12/05/2016-10/31/2019 and tested by molecular assays for ICV and other respiratory viruses. Parent surveys and chart review were used …

Linkage Between Fuz And Gpr161 Genes Regulates Sonic Hedgehog Signaling During Mouse Neural Tube Development, Sung-Eun Kim, Hyun-Yi Kim, Bogdan J Wlodarczyk, Richard H Finnell

Faculty, Staff and Students Publications

Sonic hedgehog (Shh) signaling regulates embryonic morphogenesis utilizing the primary cilium, the cell's antenna, which acts as a signaling hub. Fuz, an effector of planar cell polarity signaling, regulates Shh signaling by facilitating cilia formation, and the G protein-coupled receptor 161 (Gpr161) is a negative regulator of Shh signaling. The range of phenotypic malformations observed in mice bearing mutations in either of the genes encoding these proteins is similar; however, their functional relationship has not been previously explored. This study identified the genetic and biochemical linkage between Fuz and Gpr161 in mouse neural tube development. Fuz was found to be …

Horizontal Gene Transfer And Beyond: The Delivery Of Biological Matter By Bacterial Membrane Vesicles To Host And Bacterial Cells, Alice X Wen, Christophe Herman

Faculty, Staff and Students Publications

Membrane vesicles (MVs) are produced in all domains of life. In eukaryotes, extracellular vesicles have been shown to mediate the horizontal transfer of biological material between cells [1]. Therefore, bacterial MVs are also thought to mediate horizontal material transfer to host cells and other bacteria, especially in the context of cell stress. In this review, we discuss the mechanisms of bacterial MV production, evidence that their contents can be trafficked to host cells and other bacteria, and the biological relevance of horizontal material transfer by bacterial MVs.

On The Power Of Constructive Criticism, Anna Devor, Androu Abdalmalak, Taner Akkin, Yeka Aponte, George J. Augustine, Sabrina Brigadoi, Erin M. Buckley, Robert E. Campbell, Stefan A. Carp, Jean-Yves Chatton, Jerry L. Chen, Ji-Xin Cheng, Tomáš Cižmár, Robert J. Cooper, Ippeita Dan, Patrick J. Drew, Turgut Durduran, Valentina Emiliani, Tommaso Fellin, Amanda J. Foust, Ling Fu, Amir Gandjbakhche, Judit Gervain, Ariel Gilad, Edgar Guevara Codina, Xue Han, Elizabeth M. Hillman, Ute Hochgeschwender, Song Hu, Na Ji, Prakash Kara, Beop-Min Kim, Tiffany S. Ko, Duygu Kuzum, Jérôme Lecoq, Rickson C. Mesquita, Timothy H. Murphy, U. Valentin Nägerl, Nozomi Nishimura, Yumie Ono, Nisan Ozana, Francesco S. Pavone, Darcy S. Peterka, Ferruccio Pisanello, Anna Wang Roe, Andy Y. Shih, Shy Shoham, François St-Pierre, Sungho Tak, Lin Tian, Kai Wang, Martin Wolf, Ji Yi, Ofer Yizhar, Meryem A. Yucel

Faculty, Staff and Students Publications

The editorial discusses the practice of peer review for SPIE Neurophotonics.

Feature Extraction For Generative Medical Imaging Evaluation: New Evidence Against An Evolving Trend, Mckell Woodland, Austin Castelo, Mais Al Taie, Jessica Albuquerque Marques Silva, Mohamed Eltaher, Frank Mohn, Alexander Shieh, Suprateek Kundu, Joshua P Yung, Ankit B Patel, Kristy K Brock

Faculty, Staff and Students Publications

Fréchet Inception Distance (FID) is a widely used metric for assessing synthetic image quality. It relies on an ImageNet-based feature extractor, making its applicability to medical imaging unclear. A recent trend is to adapt FID to medical imaging through feature extractors trained on medical images. Our study challenges this practice by demonstrating that ImageNet-based extractors are more consistent and aligned with human judgment than their RadImageNet counterparts. We evaluated sixteen StyleGAN2 networks across four medical imaging modalities and four data augmentation techniques with Fréchet distances (FDs) computed using eleven ImageNet or RadImageNet-trained feature extractors. Comparison with human judgment via visual …

Evaluation Of Vancomycin Dose Needed To Achieve 24-Hour Area Under The Concentration-Time Curve To Minimum Inhibitory Concentration Ratio Greater Than Or Equal To 400 Using Pharmacometric Approaches In Pediatric Intensive Care Patients, Dawoon Jung, Omayma A Kishk, Adnan T Bhutta, Ginny E Cummings, Hana M El Sahly, Manpreet K Virk, Brady S Moffett, Jennifer L Morris Daniel, Amy Watanabe, Nicholas Fishbane, Karen L Kotloff, Kenan Gu, Varduhi Ghazaryan, Jogarao V S Gobburu, Ayse Akcan-Arikan, James D Campbell

Faculty, Staff and Students Publications

OBJECTIVES: To investigate which independent factor(s) have an impact on the pharmacokinetics of vancomycin in critically ill children, develop an equation to predict the 24-hour area under the concentration-time curve from a trough concentration, and evaluate dosing regimens likely to achieve a 24-hour area under the concentration-time curve to minimum inhibitory concentration ratio (AUC24/MIC) greater than or equal to 400.

DESIGN: Prospective population pharmacokinetic study of vancomycin.

SETTING: Critically ill patients in quaternary care PICUs.

PATIENTS: Children 90 days old or older to younger than 18 years who received IV vancomycin treatment, irrespective of the indication for use, in the …

The Association Between Vaso/Pressin And Adverse Kidney Outcomes In Children And Young Adults Requiring Vasopressors On Continuous Renal Replacement Therapy, Denise C Hasson, Katja M Gist, Jangdong Seo, Erin K Stenson, Aaron Kessel, Taiki Haga, Sara Lafever, Maria Jose Santiago, Matthew Barhight, David Selewski, Zaccaria Ricci, Nicholas J Ollberding, Natalja L Stanski, The Worldwide Exploration Of Renal Replacement Outcomes Collaborative In Kidney Disease (We-Rock) Collaborative

Faculty, Staff and Students Publications

OBJECTIVES: Continuous renal replacement therapy (CRRT) and shock are both associated with high morbidity and mortality in the ICU. Adult data suggest renoprotective effects of vasopressin vs. catecholamines (norepinephrine and epinephrine). We aimed to determine whether vasopressin use during CRRT was associated with improved kidney outcomes in children and young adults.

DESIGN: Secondary analysis of Worldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Disease (WE-ROCK), a multicenter, retrospective cohort study.

SETTING: Neonatal, cardiac, PICUs at 34 centers internationally from January 1, 2015, to December 31, 2021.

PATIENTS/SUBJECTS: Patients younger than 25 years receiving CRRT for acute kidney injury and/or …

Acute Changes In Liver Function Tests During Initiation Of Ketogenic Diet, Akshat Katyayan, Anuranjita Nayak, Gloria Diaz-Medina, Maureen Handoko, James John Riviello

Faculty, Staff and Students Publications

BACKGROUND: Ketogenic diet is an effective therapy for patients with medically refractory epilepsy. It is generally well tolerated, with the most common side effects being gastrointestinal. Hepatic toxicity has been described as an uncommon side effect of ketogenic diet, usually with long-term use. However, there are limited data to implicate ketogenic diet in acute liver toxicity.

METHODS AND RESULTS: We analyzed all patients who underwent elective inpatient ketogenic diet initiation at our institution from June 2019 to June 2022. Of the 25 patients reviewed, we found 6 patients who showed acute, asymptomatic changes in liver function tests during initiation, in …

Metagenomic Study Of The Mesa: Detection Of Gemella Morbillorum And Association With Coronary Heart Disease, Kent D Taylor, Alexis C Wood, Jerome I Rotter, Xiuqing Guo, David M Herrington, W Craig Johnson, Wendy S Post, Russell P Tracy, Stephen S Rich, Shaista Malik

Faculty, Staff and Students Publications

BACKGROUND: Inflammation is a feature of coronary heart disease (CHD), but the role of proinflammatory microbial infection in CHD remains understudied.

METHODS AND RESULTS: CHD was defined in the MESA (Multi-Ethnic Study of Atherosclerosis) as myocardial infarction (251 participants), resuscitated arrest (2 participants), and CHD death (80 participants). We analyzed sequencing reads from 4421 MESA participants in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine program using the PathSeq workflow of the Genome Analysis Tool Kit and a 65-gigabase microbial reference. Paired reads aligning to 840 microbes were detected in >1% of participants. The association of the …

Galectin 3-Binding Protein (Lgals3bp) Depletion Attenuates Hepatic Fibrosis By Reducing Transforming Growth Factor-Β1 (Tgf-Β1) Availability And Inhibits Hepatocarcinogenesis, Dae-Hwan Kim, Minjeong Sung, Myong-Suk Park, Eun-Gene Sun, Sumin Yoon, Kyung Hyun Yoo, Kamalakannan Radhakrishnan, Sung Yun Jung, Woo-Kyun Bae, Sang-Hee Cho, Ik-Joo Chung

Faculty, Staff and Students Publications

Background: Increased Galectin 3-binding protein (LGALS3BP) serum levels have been used to assess hepatic fibrosis stages and the severity of hepatocellular carcinoma (HCC). Considering the crucial role of transforming growth factor-β1 (TGF-β1) in the emergence of these diseases, the present study tested the hypothesis that LGALS3BP regulates the TGF-β1 signaling pathway.

Methods: The expression levels of LGALS3BP and TGFB1 were analyzed in patients with metabolic dysfunction-associated steatohepatitis (MASH) and HCC. Multiple omics techniques, such as RNA-sequencing, transposase-accessible chromatin-sequencing assay, and liquid chromatography-tandem mass spectrometry proteomics, were used to identify the regulatory mechanisms for the LGALS3BP-TGF-β1 axis. The effects of altered …

Considerations For Reporting Variants In Novel Candidate Genes Identified During Clinical Genomic Testing, Jessica X Chong, Seth I Berger, Samantha Baxter, Erica Smith, Changrui Xiao, Daniel G Calame, Megan H Hawley, E Andres Rivera-Munoz, Stephanie Ditroia, Genomics Research To Elucidate The Genetics Of Rare Diseases (Gregor) Consortium, Michael J Bamshad, Heidi L Rehm

Faculty, Staff and Students Publications

Since the first novel gene discovery for a Mendelian condition was made via exome sequencing, the rapid increase in the number of genes known to underlie Mendelian conditions coupled with the adoption of exome (and more recently, genome) sequencing by diagnostic testing labs has changed the landscape of genomic testing for rare diseases. Specifically, many individuals suspected to have a Mendelian condition are now routinely offered clinical ES. This commonly results in a precise genetic diagnosis but frequently overlooks the identification of novel candidate genes. Such candidates are also less likely to be identified in the absence of large-scale gene …

Unraveling The Link: Seizure Characteristics And Ammonia Levels In Urea Cycle Disorder During Hyperammonemic Crises, Mongkol Chanvanichtrakool, John M Schreiber, Wei-Liang Chen, John Barber, Anqing Zhang, Nicholas Ah Mew, Andreas Schulze, Greta Wilkening, Sandesh C S Nagamani, Andrea Gropman, Urea Cycle Disease Consortium

Faculty, Staff and Students Publications

Background: This retrospective clinical study performed at a single clinical center aimed to identify the prevalence of seizures in individuals with urea cycle disorders (UCDs) with and without hyperammonemic (HA) crises. In addition, we sought to correlate the utility of biochemical markers and electroencephalography (EEG) in detecting subclinical seizures during HA.

Methods: Medical records of individuals with UCDs enrolled in Urea Cycle Disorders Consortium Longitudinal Study (UCDC-LS) (NCT00237315) at Children's National Hospital between 2006 and 2022 were reviewed for evidence of clinical and subclinical seizuress during HA crises, and initial biochemical levels concurrently.

Results: Eighty-five individuals with UCD …

Hospital Acquired Venous Thromboembolism In Children With Sickle Cell Disease, Shreya Agarwal, Kayla L Foster, Shaniqua J Anum, Mary C Shapiro, Hyojeong Han, Michael E Scheurer, Gladstone Airewele, Sarah E Sartain

Faculty, Staff and Students Publications

Sickle cell disease (SCD) is well recognized as a hypercoagulablestate, however, it remains unclear whether a subgroup of children with SCD at higher risk of venous thromboembolic event (VTE) during hospitalization may benefit from thromboprophylaxis. Our objectives were to describe the clinical characteristics, outcomes and recurrence of hospital acquired VTE in patients with SCD younger than 21 years. This was a single center retrospective study. Data regarding demographics, reason for admission, location of VTE, risk factors like central venous catheter (CVC), intensive care unit (ICU) admission among others were extracted from electronic medical records over a 10-year study period (2011-2021). …

What Would Happen In The United States If There Were No Cow Milk-Based Preterm Infant Nutritional Products: Historical Perspective And Evaluation Of Nutrient-Related Challenges, Steven A Abrams, Robert J Shulman

Faculty, Staff and Students Publications

Recent litigation has led to a situation where preterm cow milk-based infant nutritional products (PCMBPs) may soon have limited or no availability in the United States. Given their limited availability, similar products based only on human milk are unlikely to meet the needs of most preterm infants requiring such products, especially those born >1500 g or very preterm infants born at < 1500 g after they reach 34-35 wk postmenstrual age. Alternative nutritional strategies, used before the introduction of specialized preterm products, would require modular nutrient additions to a formula designed for full-term infants and donor or maternal milk. The addition of modular products would require careful calibration to provide needed macro and micronutrients which would expose infants to risks of contamination, poor growth, and limited bioavailability of some of these modulars. Substantial risks of metabolic derangements, and ultimately, poor outcomes would occur. In the long-term greater availability and support for the use of human milk-based products is needed. However, policymakers cannot assume that PCMBPs will not be critically needed and should identify strategies for their continued marketplace availability.

Isolated Psychiatric Symptoms In Children With Anti-N-Methyl-D Aspartate Receptor Encephalitis, Grace Gombolay, J Nicholas Brenton, Jennifer H Yang, Coral M Stredny, Ryan Kammeyer, Kristen S Fisher, Alexander J Sandweiss, Timothy A Erickson, Varun Kannan, Catherine Otten, Claude Steriade, Ngochanh Vu, Jonathan D Santoro, Karla Robles-Lopez, Robert Goodrich, Scott Otallah, Janetta Arellano, Andrew Christiana, Morgan Morris, Mark P Gorman, Alexandra B Kornbluh, Ilana Kahn, Leigh Sepeta, Yike Jiang, Eyal Muscal, Kristy O Murray, Manikum Moodley, Duriel Hardy

Faculty, Staff and Students Publications

Background: Isolated psychiatric symptoms can be the initial symptom of pediatric anti-N-methyl-d-aspartate (NMDA) receptor autoimmune encephalitis (pNMDARE). Here we report on the prevalence of isolated psychiatric symptoms in pNMDARE. We also assess whether initial neurodiagnostic tests (brain magnetic resonance imaging [MRI], electroencephalography [EEG], and/or cerebrospinal fluid [CSF] white blood cell count) are abnormal in children with isolated psychiatric symptoms and pNMDARE.

Methods: This multicenter retrospective cohort study from CONNECT (Conquering Neuroinflammation and Epilepsies Consortium) from 14 institutions included children under age 18 years who were diagnosed with pNMDARE. Descriptive statistics using means, medians, and comparisons for continuous versus discrete data …

The Fallacy Of Electronic Cigarettes For Tobacco Dependence, Harold J Farber, Carlos Rábade Castedo, Carlos A Jimenez-Ruiz, Manuel Conrado Pacheco

Faculty, Staff and Students Publications

No abstract provided.

Anger Outbursts In Youth With Asd And Anxiety: Phenomenology And Relationship With Family Accommodation, Allie N Townsend, Andrew G Guzick, Alyssa G Hertz, Connor M Kerns, Wayne K Goodman, Leandra N Berry, Philip C Kendall, Jeffrey J Wood, Eric A Storch

Faculty, Staff and Students Publications

Anger outbursts (AO) are associated with severe symptoms, impairment and poorer treatment outcomes for anxious children, though limited research has examined AO in youth with co-occurring autism and anxiety disorders. This study examined AO in children with autism and anxiety by evaluating clinical characteristics, family accommodation, and changes in AO following anxiety-focused treatment. The sample comprised 167 youth with autism and anxiety enrolled in a multi-site randomized clinical trial comparing standard care CBT for anxiety, CBT adapted for youth with autism, and usual care. Most participants (60%) had AO, which contributed to impairment above and beyond anxiety and autism. AO …

Psychometric Evaluation Of Clinician- And Caregiver-Reported Clinical Severity Assessments For Individuals With Cdkl5 Deficiency Disorder, Jacinta M Saldaris, Peter Jacoby, Jenny Downs, Eric D Marsh, Helen Leonard, Elia Pestana-Knight, Rajsekar Rajaraman, Judith Weisenberg, Bernhard Suter, Heather E Olson, Dana Price, William Hong, Erin Prange, Tim A Benke, Scott Demarest

Faculty, Staff and Students Publications

Objective: The CDKL5 Clinical Severity Assessment (CCSA) is a comprehensive, content-validated measurement tool capturing the diverse challenges of cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD), a genetically caused developmental epileptic encephalopathy (DEE). The CCSA is divided into clinician-reported (CCSA-Clinician) and caregiver-reported (CCSA-Caregiver) assessments. The aim of this study was to evaluate the factor structure of these measures through confirmatory factor analysis (CFA) and evaluate their validity and reliability.

Methods: Participants were recruited from the International CDKL5 Clinical Research Network to take part in an in-clinic CCSA-Clinician evaluation (n = 148) and/or complete the CCSA-Caregiver questionnaire (n = 198). CFA was …

Dsm-5 Criterion-A-Based Trauma Types In Service Members And Veterans Seeking Treatment For Posttraumatic Stress Disorder, Natasha Benfer, Breanna Grunthal, Katherine A Dondanville, Stacey Young-Mccaughan, Abby Blankenship, Chadi G Abdallah, Sudie E Back, Julianne Flanagan, Edna B Foa, Peter T Fox, John H Krystal, Brian P Marx, Donald D Mcgeary, Carmen P Mclean, Kristi E Pruiksma, Patricia A Resick, John D Roache, Paulo Shiroma, Denise M Sloan, Daniel J Taylor, Jennifer Schuster Wachen, Argelio L López-Roca, Karin L Nicholson, Richard P Schobitz, Christian C Schrader, Allah-Fard M Sharrieff, Jeffrey S Yarvis, Jim Mintz, Terence M Keane, Alan L Peterson, Brett T Litz

Faculty, Staff and Students Publications

Objective: In posttraumatic stress disorder (PTSD), the assumption of the equipotentiality of traumas ignores potentially unique contexts and consequences of different traumas. Accordingly, Stein et al. (2012) developed a reliable typing scheme in which assessors categorized descriptions of traumatic events into six "types": life threat to self (LTS), life threat to other, aftermath of violence (AV), traumatic loss, moral injury by self (MIS), and moral injury by other (MIO). We extended this research by validating the typing scheme using participant endorsements of type, rather than assesor-based types. We examined the concordance of participant and assesor types, frequency, and validity …

Cumulative Radiation Exposure And Lifetime Cancer Risk In Patients With Tetralogy Of Fallot Requiring Early Intervention, Jeannette R Wong-Siegel, Andrew C Glatz, Courtney Mccracken, Choonsik Lee, Cari M Kitahara, Lene H S Veiga, Yun Zhang, Bryan H Goldstein, Christopher J Petit, Athar M Qureshi, George T Nicholson, Mark A Law, Jeffery Meadows, Shabana Shahanavaz, Michael L O'Byrne, Sarosh P Batlivala, Joelle Pettus, Asaad Beshish, Christopher E Mascio, Jennifer C Romano, Kathyrn O Stack, Ivor Asztalos, Tacy E Downing, Jeffrey D Zampi

Faculty, Staff and Students Publications

Background: Neonates with tetralogy of Fallot and symptomatic cyanosis (sTOF) require early intervention, utilizing either a staged repair (SR) or primary repair (PR) approach. They are exposed to several sources of low-dose ionizing radiation, which may contribute to increased cancer risk.

Objectives: The purpose of this study was to compare cumulative radiation exposure and associated lifetime attributable risk (LAR) of cancer between treatment strategies in sTOF.

Methods: Neonates with sTOF who underwent SR or PR from 2012 to 2017 were retrospectively reviewed from the Congenital Cardiac Research Collaborative. Radiation exposure from all radiologic studies prior to 18 months of age …

Demystifying Hispanic Versus Latino/A Versus Latinx: Which Do Emergency Department Patients Prefer?, Melanie F Molina, Anita N Chary, Karen Reyes, James S Ford, Brian Chinnock, Robert M Rodriguez

Faculty, Staff and Students Publications

No abstract provided.

Long Covid Among Undocumented Latino Immigrant Populations In The Emergency Department, Karen P Reyes, Zubaid Rafique, Brian Chinnock, Vijaya Arun Kumar, Michael Gottlieb, Kristin L Rising, Robert M Rodriguez

Faculty, Staff and Students Publications

This cross-sectional study assesses the understanding of and access to care for long COVID symptoms among undocumented Latino immigrants in US emergency departments (EDs).

Dcrm 20: Multispecialty Practice Recommendations For The Management Of Diabetes, Cardiorenal, And Metabolic Diseases, Yehuda Handelsman, John E Anderson, George L Bakris, Christie M Ballantyne, Deepak L Bhatt, Zachary T Bloomgarden, Biykem Bozkurt, Matthew J Budoff, Javed Butler, David Z I Cherney, Ralph A Defronzo, Stefano Del Prato, Robert H Eckel, Gerasimos Filippatos, Gregg C Fonarow, Vivian A Fonseca, W Timothy Garvey, Francesco Giorgino, Peter J Grant, Jennifer B Green, Stephen J Greene, Per-Henrik Groop, George Grunberger, Ania M Jastreboff, Paul S Jellinger, Kamlesh Khunti, Samuel Klein, Mikhail N Kosiborod, Pamela Kushner, Lawrence A Leiter, Norman E Lepor, Christos S Mantzoros, Chantal Mathieu, Christian W Mende, Erin D Michos, Javier Morales, Jorge Plutzky, Richard E Pratley, Kausik K Ray, Peter Rossing, Naveed Sattar, Peter E H Schwarz, Eberhard Standl, P Gabriel Steg, Lale Tokgözoğlu, Jaakko Tuomilehto, Guillermo E Umpierrez, Paul Valensi, Matthew R Weir, John Wilding, Eugene E Wright

Faculty, Staff and Students Publications

The spectrum of cardiorenal and metabolic diseases comprises many disorders, including obesity, type 2 diabetes (T2D), chronic kidney disease (CKD), atherosclerotic cardiovascular disease (ASCVD), heart failure (HF), dyslipidemias, hypertension, and associated comorbidities such as pulmonary diseases and metabolism dysfunction-associated steatotic liver disease and metabolism dysfunction-associated steatohepatitis (MASLD and MASH, respectively, formerly known as nonalcoholic fatty liver disease and nonalcoholic steatohepatitis [NAFLD and NASH]). Because cardiorenal and metabolic diseases share pathophysiologic pathways, two or more are often present in the same individual. Findings from recent outcome trials have demonstrated benefits of various treatments across a range of conditions, suggesting a need …

The Undiagnosed Diseases Network: Characteristics Of Solvable Applicants And Diagnostic Suggestions For Nonaccepted Ones, John J Mulvihill, Laura Findley, Weihong Ni, Janet S Sinsheimer, F Session Cole, Cecilia Esteves, Jonathan A Bernstein, John H Newman, Matthew T Wheeler, Jill R Mokry, Undiagnosed Diseases Network

Faculty, Staff and Students Publications

Purpose: Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, such as by the Undiagnosed Diseases Network (UDN)?

Methods: The UDN is a national research resource to solve medical mysteries through team science. Applicants provide informed consent to access to their medical records. After review, expert panels assess if applicants meet inclusion and exclusion criteria to select participants. When not accepting applicants, UDN experts may offer suggestions for diagnostic efforts. Using minimal information from initial applications, we compare features in applicants who are not accepted with those who are accepted and either …

Stareg: Statistical Replicability Analysis Of High Throughput Experiments With Applications To Spatial Transcriptomic Studies, Yan Li, Xiang Zhou, Rui Chen, Xianyang Zhang, Hongyuan Cao

Faculty, Staff and Students Publications

Replicable signals from different yet conceptually related studies provide stronger scientific evidence and more powerful inference. We introduce STAREG, a statistical method for replicability analysis of high throughput experiments, and apply it to analyze spatial transcriptomic studies. STAREG uses summary statistics from multiple studies of high throughput experiments and models the the joint distribution of p-values accounting for the heterogeneity of different studies. It effectively controls the false discovery rate (FDR) and has higher power by information borrowing. Moreover, it provides different rankings of important genes. With the EM algorithm in combination with pool-adjacent-violator-algorithm (PAVA), STAREG is scalable to datasets …

Contemporary Epidemiology Of Hepatocellular Carcinoma: Understanding Risk Factors And Surveillance Strategies, Fouad Jaber, George Cholankeril, Hashem B El-Serag

Faculty, Staff and Students Publications

The contemporary epidemiology of hepatocellular carcinoma (HCC) shows a shift in the main etiological risk factors from less common but highly virulent (eg, hepatitis C and B) to more common but weak risk factors (eg, alcohol and metabolic syndrome). Therefore, we are in a seemingly paradoxical state of declining overall incidence rates of HCC-related to improved prevention and treatment of viral hepatitis but burgeoning number of people at an elevated risk of HCC. Several geographic regions have reported an increase in HCC attributable to alcoholic liver disease and metabolic dysfunction associated with steatotic liver disease (MASLD). The importance of risk …