Medicine and Health Sciences Commons^™

Obstacles To Optimal Antenatal Corticosteroid Administration To Eligible Patients, Kara M Rood, Lynda G Ugwu, William A Grobman, Jennifer L Bailit, Ronald J Wapner, Michael W Varner, John M Thorp, Steve N Caritis, Alan T N Tita, George R Saade, Dwight J Rouse, Sean C Blackwell, Jorge E Tolosa

Faculty, Staff and Student Publications

Background

Administration of antenatal corticosteroids (ANCS) is recommended for individuals expected to deliver between 24 and 34 weeks of gestation. Properly timed administration of ANCS achieves maximal benefit. However, more than 50% of individuals receive ANCS outside the recommended window.

Objective

To examine maternal and hospital factors associated with suboptimal receipt of ANCS among individuals who deliver between 24–34 weeks gestation.

Study Design

Secondary analysis of the Assessment of Perinatal Excellence (APEX), an observational study of births to 115,502 individuals at 25 hospitals in the US from March 2008–February 2011. Data from 3123 individuals who gave birth to a non-anomalous …

Cross-Cohort Replicable Resting-State Functional Connectivity In Predicting Symptoms And Cognition Of Schizophrenia, Chunzhi Zhao, Rongtao Jiang, Juan Bustillo, Peter Kochunov, Jessica A Turner, Chuang Liang, Zening Fu, Daoqiang Zhang, Shile Qi, Vince D Calhoun

Faculty, Staff and Student Publications

Schizophrenia (SZ) is a debilitating mental illness characterized by adolescence or early adulthood onset of psychosis, positive and negative symptoms, as well as cognitive impairments. Despite a plethora of studies leveraging functional connectivity (FC) from functional magnetic resonance imaging (fMRI) to predict symptoms and cognitive impairments of SZ, the findings have exhibited great heterogeneity. We aimed to identify congruous and replicable connectivity patterns capable of predicting positive and negative symptoms as well as cognitive impairments in SZ. Predictable functional connections (FCs) were identified by employing an individualized prediction model, whose replicability was further evaluated across three independent cohorts (BSNIP, SZ …

Proteomics For Optimizing Therapy In Acute Myeloid Leukemia: Venetoclax Plus Hypomethylating Agents Versus Conventional Chemotherapy, Eduardo Sabino De Camargo Magalhães, Stefan Edward Hubner, Brandon Douglas Brown, Yihua Qiu, Steven Mitchell Kornblau

Faculty, Staff and Student Publications

The use of Hypomethylating agents combined with Venetoclax (VH) for the treatment of Acute Myeloid Leukemia (AML) has greatly improved outcomes in recent years. However not all patients benefit from the VH regimen and a way to rationally select between VH and Conventional Chemotherapy (CC) for individual AML patients is needed. Here, we developed a proteomic-based triaging strategy using Reverse-phase Protein Arrays (RPPA) to optimize therapy selection. We evaluated the expression of 411 proteins in 810 newly diagnosed adult AML patients, identifying 109 prognostic proteins, that divided into five patient expression profiles, which are useful for optimizing therapy selection. Furthermore, …

Mapping Brain Function In Adults And Young Children During Naturalistic Viewing With High-Density Diffuse Optical Tomography, Kalyan Tripathy, Morgan Fogarty, Alexandra M Svoboda, Mariel L Schroeder, Sean M Rafferty, Edward J Richter, Christopher Tracy, Patricia K Mansfield, Madison Booth, Andrew K Fishell, Arefeh Sherafati, Zachary E Markow, Muriah D Wheelock, Ana María Arbeláez, Bradley L Schlaggar, Christopher D Smyser, Adam T Eggebrecht, Joseph P Culver

2020-Current year OA Pubs

Human studies of early brain development have been limited by extant neuroimaging methods. MRI scanners present logistical challenges for imaging young children, while alternative modalities like functional near-infrared spectroscopy have traditionally been limited by image quality due to sparse sampling. In addition, conventional tasks for brain mapping elicit low task engagement, high head motion, and considerable participant attrition in pediatric populations. As a result, typical and atypical developmental trajectories of processes such as language acquisition remain understudied during sensitive periods over the first years of life. We evaluate high-density diffuse optical tomography (HD-DOT) imaging combined with movie stimuli for high …

Assessment Of Illness Severity In Adults Hospitalized With Acute Respiratory Tract Infection Due To Influenza, Respiratory Syncytial Virus, Or Human Metapneumovirus, Ann R Falsey, Edward E Walsh, Stacey L House, Yannick Vandendijck, Marita Stevens, Eric K H Chan, Gabriela Ispas

2020-Current year OA Pubs

BACKGROUND: Influenza, respiratory syncytial virus (RSV), and human metapneumovirus (hMPV) are common respiratory viruses causing similar symptoms. Optimal tools to assess illness severity for these viruses have not been defined. Using the Hospitalized Acute Respiratory Tract Infection (HARTI) study data, we report symptom severity by clinician-rated clinical severity scores (CSS) in adults with influenza, RSV, or hMPV and correlations between CSS and patient-reported outcomes (PROs).

METHODS: HARTI was a global epidemiologic study in adults hospitalized with acute respiratory tract infections. Patients were assessed at enrollment within 24 h of admission with CSS and twice during hospitalization with CSS, Respiratory Infection …

Robotic-Assisted Single-Site Abdominal Cerclage In The Bicornuate Uterus Patient With Cervical Insufficiency, Nurul Farhanah Binte Abdul Latif, Zhenkun Guan, Sylvia Asare, Xiaoming Guan

Faculty, Staff and Students Publications

Objective: To demonstrate the surgical techniques for improving safety in robotic-assisted abdominal cerclage in patients with bicornuate uteri complicated by recurrent pregnancy loss and cervical insufficiency.

Design: Stepwise demonstration with narrated video footage.

Setting: An academic tertiary care hospital.

Patients: Our patient is a 22-year-old G2P0020 with a history of recurrent pregnancy loss. During her first pregnancy, she was asymptomatic until 19 weeks and delivered because of a preterm premature rupture of membranes. A transvaginal cerclage was performed for her second pregnancy at 14 weeks, which ended at 16 weeks because of preterm premature rupture of membranes. The final magnetic …

Performance Of A Stool-Based Quantitative Pcr Assay For The Diagnosis Of Tuberculosis In Adolescents And Adults: A Multinational, Prospective Diagnostic Accuracy Study, Alexander Kay, Anca Vasiliu, Lucia Carratala-Castro, Bariki Mtafya, Jose Euberto Mendez Reyes, Nontobeko Maphalala, Shilzia Munguambe, Durbbin Mulengwa, Tara Ness, Belen Saavedra, Jason Bacha, Gugu Maphalala, Rojelio Mejia, Godwin Mtetwa, Sozinho Acacio, Patricia Manjate, Edson Mambuque, Nosisa Shiba, Nokwanda Kota, Mangaliso Ziyane, Nyanda Elias Ntinginya, Christoph Lange, H Lester Kirchner, Andrew R Dinardo, Alberto L Garcia-Basteiro, Anna Maria Mandalakas, Stool4tb Global Partnership

Faculty, Staff and Students Publications

BACKGROUND: Despite increasing availability of rapid molecular tests for the diagnosis of tuberculosis in high-burden settings, many people with tuberculosis are undiagnosed. Reliance on sputum as the primary specimen for tuberculosis diagnostics contributes to this diagnostic gap. We evaluated the diagnostic accuracy and additive yield of a novel stool quantitative PCR (qPCR) assay for the diagnosis of tuberculosis in three countries in Africa with high tuberculosis burdens.

METHODS: We undertook a prospective diagnostic accuracy study in Eswatini, Mozambique, and Tanzania from Sept 21, 2020, to Feb 2, 2023, to compare the diagnostic accuracy for tuberculosis of a novel stool qPCR …

Clofarabine Monotherapy In Aggressive, Relapsed And Refractory Langerhans Cell Histiocytosis, Deevyashali Parekh, Howard Lin, Akanksha Batajoo, Erin Peckham-Gregory, Vivekanudeep Karri, Whitney Stanton, Brooks Scull, Ryan Fleishmann, Nader El-Mallawany, Olive S Eckstein, Zachary D Prudowsky, Nitya Gulati, Jennifer E Agrusa, Asra Z Ahmed, Roland Chu, Matthew S Dietz, Stanton C Goldman, Michael D Hogarty, Hamayun Imran, Stefanos Intzes, Jenny M Kim, Lisa M Kopp, Carolyn Fein Levy, Philip Neff, Pallavi M Pillai, Bryan A Sisk, Deborah E Schiff, Angela D Trobaugh-Lotrario, Kelly Walkovich, Kenneth L Mcclain, Carl E Allen

Faculty, Staff and Students Publications

Over 50% of patients with systemic LCH are not cured with front-line therapies and data to guide salvage options are limited. We describe 58 patients with LCH who were treated with clofarabine. Clofarabine monotherapy was active against LCH in this cohort including heavily pretreated patients with systemic objective response rate of 92.6%, higher in children (93.8%) than adults (83.3%). BRAFV600E+ variant allele frequency in peripheral blood correlated with positive clinical responses. Prospective multi-center trials are warranted to determine optimal dosing, long-term efficacy, late toxicities, relative cost and patient reported outcomes of clofarabine compared to alternative LCH salvage therapy strategies.

Social Determinants Of Health And Risk Of Stillbirth In The United States, April Adams, Deepa Dongarwar, Lena Shay, Mariana Baroni, Eunique Williams, Priscilla Ehieze, Rhanna Wilson, Alexia Awoseyi, Hamisu M Salihu

Faculty, Staff and Students Publications

Objective: Our aim was to evaluate the impact of social determinants of health (SDoH) risk factors on stillbirth among pregnancy-related hospitalizations in the United States.

Study design: We conducted a cross-sectional analysis of delivery-related hospital discharges using annualized data (2016-2017) from the Healthcare Cost and Utilization Project's Nationwide Inpatient Sample. The International Classification of Diseases, 10th Revision ICD-10-CM codes were used to select women with singleton stillbirth. Z-codes were utilized to identify SDoH risk factors and their subtypes. The association between SDoH risk factors and stillbirth was assessed using survey logistic regression models.

Results: We analyzed 8,148,646 hospitalizations, out of …

Onc201 (Dordaviprone) In Recurrent H3 K27m-Mutant Diffuse Midline Glioma, Isabel Arrillaga-Romany, Andrew Cluster, Et Al.

2020-Current year OA Pubs

PURPOSE: Histone 3 (H3) K27M-mutant diffuse midline glioma (DMG) has a dismal prognosis with no established effective therapy beyond radiation. This integrated analysis evaluated single-agent ONC201 (dordaviprone), a first-in-class imipridone, in recurrent H3 K27M-mutant DMG.

METHODS: Fifty patients (pediatric, n = 4; adult, n = 46) with recurrent H3 K27M-mutant DMG who received oral ONC201 monotherapy in four clinical trials or one expanded access protocol were included. Eligible patients had measurable disease by Response Assessment in Neuro-Oncology (RANO) high-grade glioma (HGG) criteria and performance score (PS) ≥60 and were ≥90 days from radiation; pontine and spinal tumors were ineligible. The …

Cooking With Liquefied Petroleum Gas Or Biomass And Fetal Growth Outcomes: A Multi-Country Randomised Controlled Trial, William Checkley, Victor G Dávila-Román, Lisa De Las Fuentes, Et Al.

2020-Current year OA Pubs

BACKGROUND: Household air pollution might lead to fetal growth restriction during pregnancy. We aimed to investigate whether a liquefied petroleum gas (LPG) intervention to reduce personal exposures to household air pollution during pregnancy would alter fetal growth.

METHODS: The Household Air Pollution Intervention Network (HAPIN) trial was an open-label randomised controlled trial conducted in ten resource-limited settings across Guatemala, India, Peru, and Rwanda. Pregnant women aged 18-34 years (9-19 weeks of gestation) were randomly assigned in a 1:1 ratio to receive an LPG stove, continuous fuel delivery, and behavioural messaging or to continue usual cooking with biomass for 18 months. …

Patterns Of Multiple Organ Dysfunction And Renal Recovery In Critically Ill Children And Young Adults Receiving Continuous Renal Replacement Therapy, Sameer Thadani, Dana Fuhrman, Claire Hanson, Hyun Jung Park, Joseph Angelo, Poyyapakkam Srivaths, Katri Typpo, Michael J Bell, Katja M Gist, Joseph Carcillo, Ayse Akcan-Arikan

Faculty, Staff and Students Publications

OBJECTIVES: Acute kidney injury requiring dialysis (AKI-D) commonly occurs in the setting of multiple organ dysfunction syndrome (MODS). Continuous renal replacement therapy (CRRT) is the modality of choice for AKI-D. Mid-term outcomes of pediatric AKI-D supported with CRRT are unknown. We aimed to describe the pattern and impact of organ dysfunction on renal outcomes in critically ill children and young adults with AKI-D.

DESIGN: Retrospective cohort.

SETTING: Two large quarternary care pediatric hospitals.

PATIENTS: Patients 26 y old or younger who received CRRT from 2014 to 2020, excluding patients with chronic kidney disease.

INTERVENTIONS: None.

MEASUREMENTS AND MAIN RESULTS: Organ …

Proteomic Biomarkers Of Quantitative Interstitial Abnormalities In Copdgene And Cardia Lung Study, Bina Choi, Gabrielle Y Liu, Quanhu Sheng, Kaushik Amancherla, Andrew Perry, Xiaoning Huang, Ruben San José Estépar, Samuel Y Ash, Weihua Guan, David R Jacobs, Fernando J Martinez, Ivan O Rosas, Russell P Bowler, Jonathan A Kropski, Nicholas E Banovich, Sadiya S Khan, Raúl San José Estépar, Ravi Shah, Bharat Thyagarajan, Ravi Kalhan, George R Washko

Faculty, Staff and Students Publications

Rationale: Quantitative interstitial abnormalities (QIAs) are early measures of lung injury automatically detected on chest computed tomography scans. QIAs are associated with impaired respiratory health and share features with advanced lung diseases, but their biological underpinnings are not well understood. Objectives: To identify novel protein biomarkers of QIAs using high-throughput plasma proteomic panels within two multicenter cohorts.

Methods: We measured the plasma proteomics of 4,383 participants in an older, ever-smoker cohort (COPDGene [Genetic Epidemiology of Chronic Obstructive Pulmonary Disease]) and 2,925 participants in a younger population cohort (CARDIA [Coronary Artery Disease Risk in Young Adults]) using the SomaLogic SomaScan assays. …

Cardiovascular Safety Of Ozanimod In Patients With Ulcerative Colitis: True North And Open-Label Extension Analyses, Alessandro Armuzzi, Parakkal Deepak, Et Al.

2020-Current year OA Pubs

BACKGROUND & AIMS: Evaluating cardiovascular safety of sphingosine 1-phosphate (S1P) receptor modulators is warranted due to S1P receptor expression on cardiomyocytes and vascular endothelial cells. This analysis reports the cardiovascular safety of ozanimod, an S1P receptor modulator, in patients with moderately to severely active ulcerative colitis from the phase 3 True North (TN) and open-label extension (OLE).

METHODS: All patients who received ozanimod in TN (n = 796) and all eligible TN patients who entered the OLE (n = 823) were included. Cardiovascular-related adverse events were evaluated in patients with up to 146 weeks of ozanimod exposure (2219 patient-years), which …

A Precision Functional Atlas Of Personalized Network Topography And Probabilities, Robert J M Hermosillo, Ally Dworetsky, Babatunde Adeyemo, Caterina Gratton, Steven Petersen, Nico U F Dosenbach, Et Al.

2020-Current year OA Pubs

Although the general location of functional neural networks is similar across individuals, there is vast person-to-person topographic variability. To capture this, we implemented precision brain mapping functional magnetic resonance imaging methods to establish an open-source, method-flexible set of precision functional network atlases-the Masonic Institute for the Developing Brain (MIDB) Precision Brain Atlas. This atlas is an evolving resource comprising 53,273 individual-specific network maps, from more than 9,900 individuals, across ages and cohorts, including the Adolescent Brain Cognitive Development study, the Developmental Human Connectome Project and others. We also generated probabilistic network maps across multiple ages and integration zones (using a …

Therapeutic Efficacy Of Generic Artemether-Lumefantrine In The Treatment Of Uncomplicated Malaria In Ghana: Assessing Anti-Malarial Efficacy Amidst Pharmacogenetic Variations, Nicholas Ekow Thomford, Tracy Kellermann, Robert Peter Biney, Charné Dixon, Samuel Badu Nyarko, Richmond Owusu Ateko, Martins Ekor, George B Kyei

2020-Current year OA Pubs

BACKGROUND: Despite efforts made to reduce morbidity and mortality associated with malaria, especially in sub-Saharan Africa, malaria continues to be a public health concern that requires innovative efforts to reach the WHO-set zero malaria agenda. Among the innovations is the use of artemisinin-based combination therapy (ACT) that is effective against Plasmodium falciparum. Generic artemether-lumefantrine (AL) is used to treat uncomplicated malaria after appropriate diagnosis. AL is metabolized by the cytochrome P450 family of enzymes, such as CYP2B6, CYP3A4 and CYP3A5, which can be under pharmacogenetic influence. Pharmacogenetics affecting AL metabolism, significantly influence the overall anti-malarial activity leading to variable therapeutic …

A Retrospective Analysis Of The Role Of Age And Sex In Outcomes Of Non-Surgical Periodontal Therapy At A Single Academic Dental Center, Nikola Angelov, Nikolaos Soldatos, Effie Ioannidou, Tonia C Carter, Neel Shimpi, Joseph Applegate, Krishna Kumar Kookal, Karo Parsegian

Faculty, Staff and Student Publications

The present study examined the role of age and sex in the outcomes of non-surgical periodontal therapy (NSPT). De-identified demographic and periodontal characteristics of patients who presented for baseline periodontal evaluation, NSPT, and periodontal re-evaluation were abstracted from electronic health records. Independent associations of age and sex with severe periodontitis defined as ≥ 5 mm clinical attachment loss (CAL) and ≥ 6 mm probing depth (PD) were determined using multinomial logistic regression. The null hypothesis was rejected at α <  0.05. A total of 2866 eligible subjects were included in the analysis. Significantly lower odds of CAL ≤ 4 mm than CAL ≥ 5 mm (reference) were observed in adults aged 35-64 (odds ratio, OR, 0.19; 95% confidence interval, CI 0.13, 0.29) and ≥ 65 years (OR 0.13; 95% CI 0.07, 0.25) compared to those aged 18-34 years. Odds of PD <  4 mm versus PD ≥ 6 mm (reference) were lower in adults aged 35-64 years than those aged 18-34 years (OR 0.71; 95% CI 0.55, 0.90) and higher in females compared to males (OR 1.67; 95% CI 1.14, 2.44). These results suggest more compromised post-NSPT outcomes in older adults and males compared to the respective populations and highlight the need for personalized therapeutic strategies in these populations.

Structural Variants Involving Mllt10 Fusion Are Associated With Adverse Outcomes In Pediatric Acute Myeloid Leukemia., Oussama Abla, Rhonda E. Ries, Tim Triche, Robert B. Gerbing, Betsy Hirsch, Susana Raimondi, Todd Cooper, Jason E. Farrar, Nathaniel Buteyn, Lauren M. Harmon, Hong Wen, Aniruddha J. Deshpande, E Anders Kolb, Alan S. Gamis, Richard Aplenc, Todd Alonzo, Soheil Meshinchi

Manuscripts, Articles, Book Chapters and Other Papers

MLLT10 gene rearrangements with KMT2A occur in pediatric acute myeloid leukemia (AML) and confer poor prognosis, but the prognostic impact of MLLT10 in partnership with other genes is unknown. We conducted a retrospective study with 2080 children and young adults with AML registered on the Children's Oncology Group AAML0531 (NCT00372593) and AAML1031 trials (NCT01371981). Transcriptome profiling and/or karyotyping were performed to identify leukemia-associated fusions associated with prognosis. Collectively, 127 patients (6.1%) were identified with MLLT10 fusions: 104 (81.9%) with KMT2A::MLLT10, 13 (10.2%) with PICALM::MLLT10, and 10 (7.9%) X::MLLT10: (2 each of DDX3X and TEC), with 6 partners (DDX3Y, CEP164, SCN2B, …

Dismantling Barriers To Hepatitis B And Delta Screening, Prevention, And Linkage To Care Among The Pwud Community In Philadelphia, Beatrice Zovich, Catherine Freeland, Holly Moore, Kara Sapp, Anousha Qureshi, Rachel Holbert, Jason Zambrano, Daljinder Bhangoo, Chari Cohen, Richard W. Hass, Amy Jessop

College of Population Health Faculty Papers

The prevalence of hepatitis B and delta viruses (HBV/HDV) among people who use drugs (PWUD) remains largely unknown. In the context of one Philadelphia-based harm reduction organization (HRO), this study aimed to assess HBV/HDV prevalence and facilitate linkage to care. Participants completed a demographic HBV/HDV risk factor survey and were screened for HBV and reflexively for HDV if positive for HBV surface antigen or isolated core antibody. Fisher's exact tests and regression were used to understand relationships between risks and HBV blood markers. Of the 498 participants, 126 (25.3%) did not have hepatitis B immunity, 52.6% had been vaccinated against …

Vaccine Effectiveness Against Influenza A-Associated Hospitalization, Organ Failure, And Death: United States, 2022-2023, Nathaniel M Lewis, Yuwei Zhu, Ithan D Peltan, Manjusha Gaglani, Tresa Mcneal, Shekhar Ghamande, Jay S Steingrub, Nathan I Shapiro, Abhijit Duggal, William S Bender, Leyla Taghizadeh, Samuel M Brown, David N Hager, Michelle N Gong, Amira Mohamed, Matthew C Exline, Akram Khan, Jennifer G Wilson, Nida Qadir, Steven Y Chang, Adit A Ginde, Nicholas M Mohr, Christopher Mallow, Adam S Lauring, Nicholas J Johnson, Kevin W Gibbs, Jennie H Kwon, Cristie Columbus, Robert L Gottlieb, Catherine Raver, Ivana A Vaughn, Mayur Ramesh, Cassandra Johnson, Lois Lamerato, Basmah Safdar, Jonathan D Casey, Todd W Rice, Natasha Halasa, James D Chappell, Carlos G Grijalva, H Keipp Talbot, Adrienne Baughman, Kelsey N Womack, Sydney A Swan, Elizabeth Harker, Ashley Price, Jennifer Decuir, Diya Surie, Sascha Ellington, Wesley H Self, Investigating Respiratory Viruses In The Acutely Ill (Ivy) Network

Faculty, Staff and Students Publications

BACKGROUND: Influenza circulation during the 2022-2023 season in the United States largely returned to pre-coronavirus disease 2019 (COVID-19)-pandemic patterns and levels. Influenza A(H3N2) viruses were detected most frequently this season, predominately clade 3C.2a1b.2a, a close antigenic match to the vaccine strain.

METHODS: To understand effectiveness of the 2022-2023 influenza vaccine against influenza-associated hospitalization, organ failure, and death, a multicenter sentinel surveillance network in the United States prospectively enrolled adults hospitalized with acute respiratory illness between 1 October 2022, and 28 February 2023. Using the test-negative design, vaccine effectiveness (VE) estimates against influenza-associated hospitalization, organ failures, and death were measured by …

Vaccine Effectiveness Against Influenza A-Associated Hospitalization, Organ Failure, And Death: United States, 2022-2023, Nathaniel M Lewis, Jennie H Kwon, Et Al.

2020-Current year OA Pubs

BACKGROUND: Influenza circulation during the 2022-2023 season in the United States largely returned to pre-coronavirus disease 2019 (COVID-19)-pandemic patterns and levels. Influenza A(H3N2) viruses were detected most frequently this season, predominately clade 3C.2a1b.2a, a close antigenic match to the vaccine strain.

METHODS: To understand effectiveness of the 2022-2023 influenza vaccine against influenza-associated hospitalization, organ failure, and death, a multicenter sentinel surveillance network in the United States prospectively enrolled adults hospitalized with acute respiratory illness between 1 October 2022, and 28 February 2023. Using the test-negative design, vaccine effectiveness (VE) estimates against influenza-associated hospitalization, organ failures, and death were measured by …

Bi-Allelic Acbd6 Variants Lead To A Neurodevelopmental Syndrome With Progressive And Complex Movement Disorders, Rauan Kaiyrzhanov, Aboulfazl Rad, Sheng-Jia Lin, Aida Bertoli-Avella, Wouter W Kallemeijn, Annie Godwin, Maha S Zaki, Kevin Huang, Tracy Lau, Cassidy Petree, Stephanie Efthymiou, Ehsan Ghayoor Karimiani, Maja Hempel, Elizabeth A Normand, Sabine Rudnik-Schöneborn, Ulrich A Schatz, Marc P Baggelaar, Muhammad Ilyas, Tipu Sultan, Javeria Raza Alvi, Manizha Ganieva, Ben Fowler, Ruxandra Aanicai, Gulsen Akay Tayfun, Abdulaziz Al Saman, Abdulrahman Alswaid, Nafise Amiri, Nilufar Asilova, Vorasuk Shotelersuk, Patra Yeetong, Matloob Azam, Meisam Babaei, Gholamreza Bahrami Monajemi, Pouria Mohammadi, Saeed Samie, Selina Husna Banu, Jorge Pinto Basto, Fanny Kortüm, Mislen Bauer, Peter Bauer, Christian Beetz, Masoud Garshasbi, Awatif Hameed Issa, Wafaa Eyaid, Hind Ahmed, Narges Hashemi, Kazem Hassanpour, Isabella Herman, Sherozjon Ibrohimov, Ban A Abdul-Majeed, Maria Imdad, Maksudjon Isrofilov, Qassem Kaiyal, Suliman Khan, Brian Kirmse, Janet Koster, Charles Marques Lourenço, Tadahiro Mitani, Oana Moldovan, David Murphy, Maryam Najafi, Davut Pehlivan, Maria Eugenia Rocha, Vincenzo Salpietro, Miriam Schmidts, Adel Shalata, Mohammad Mahroum, Jawabreh Kassem Talbeya, Robert W Taylor, Dayana Vazquez, Annalisa Vetro, Hans R Waterham, Mashaya Zaman, Tina A Schrader, Wendy K Chung, Renzo Guerrini, James R Lupski, Joseph Gleeson, Mohnish Suri, Yalda Jamshidi, Kailash P Bhatia, Barbara Vona, Michael Schrader, Mariasavina Severino, Matthew Guille, Edward W Tate, Gaurav K Varshney, Henry Houlden, Reza Maroofian

Faculty, Staff and Students Publications

The acyl-CoA-binding domain-containing protein 6 (ACBD6) is ubiquitously expressed, plays a role in the acylation of lipids and proteins and regulates the N-myristoylation of proteins via N-myristoyltransferase enzymes (NMTs). However, its precise function in cells is still unclear, as is the consequence of ACBD6 defects on human pathophysiology. Using exome sequencing and extensive international data sharing efforts, we identified 45 affected individuals from 28 unrelated families (consanguinity 93%) with bi-allelic pathogenic, predominantly loss-of-function (18/20) variants in ACBD6. We generated zebrafish and Xenopus tropicalis acbd6 knockouts by CRISPR/Cas9 and characterized the role of ACBD6 on protein N-myristoylation with myristic acid alkyne …

Potential Impact Of Annual Vaccination With Reformulated Covid-19 Vaccines: Lessons From The Us Covid-19 Scenario Modeling Hub, Sung-Mok Jung, Sara L Loo, Emily Howerton, Lucie Contamin, Claire P Smith, Erica C Carcelén, Katie Yan, Samantha J Bents, John Levander, Jessi Espino, Joseph C Lemaitre, Koji Sato, Clifton D Mckee, Alison L Hill, Matteo Chinazzi, Jessica T Davis, Kunpeng Mu, Alessandro Vespignani, Erik T Rosenstrom, Sebastian A Rodriguez-Cartes, Julie S Ivy, Maria E Mayorga, Julie L Swann, Guido España, Sean Cavany, Sean M Moore, T Alex Perkins, Shi Chen, Rajib Paul, Daniel Janies, Jean-Claude Thill, Ajitesh Srivastava, Majd Al Aawar, Kaiming Bi, Shraddha Ramdas Bandekar, Anass Bouchnita, Spencer J Fox, Lauren Ancel Meyers, Przemyslaw Porebski, Srini Venkatramanan, Aniruddha Adiga, Benjamin Hurt, Brian Klahn, Joseph Outten, Jiangzhuo Chen, Henning Mortveit, Amanda Wilson, Stefan Hoops, Parantapa Bhattacharya, Dustin Machi, Anil Vullikanti, Bryan Lewis, Madhav Marathe, Harry Hochheiser, Michael C Runge, Katriona Shea, Shaun Truelove, Cécile Viboud, Justin Lessler

Faculty, Staff and Student Publications

BACKGROUND: Coronavirus Disease 2019 (COVID-19) continues to cause significant hospitalizations and deaths in the United States. Its continued burden and the impact of annually reformulated vaccines remain unclear. Here, we present projections of COVID-19 hospitalizations and deaths in the United States for the next 2 years under 2 plausible assumptions about immune escape (20% per year and 50% per year) and 3 possible CDC recommendations for the use of annually reformulated vaccines (no recommendation, vaccination for those aged 65 years and over, vaccination for all eligible age groups based on FDA approval).

METHODS AND FINDINGS: The COVID-19 Scenario Modeling Hub …

Multicenter Study Of Long-Term Outcomes And Quality Of Life In Phace Syndrome After Age 10., Mitchell Braun, Ilona J. Frieden, Dawn H. Siegel, Elizabeth George, Christopher P. Hess, Christine K. Fox, Sarah L. Chamlin, Beth A. Drolet, Denise Metry, Elena Pope, Julie Powell, Kristen Holland, Caden Ulschmid, Marilyn G. Liang, Kelly K. Barry, Tina Ho, Chantal Cotter, Eulalia Baselga, David Bosquez, Surabhi Neerendranath Jain, Jordan K. Bui, Irene Lara-Corrales, Tracy Funk, Alison Small, Wenelia Baghoomian, Albert C. Yan, James R. Treat, Griffin Stockton Hogrogian, Charles Huang, Anita Haggstrom, Mary List, Catherine C. Mccuaig, Victoria Barrio, Anthony J. Mancini, Leslie P. Lawley, Kerrie Grunnet-Satcher, Kimberly A. Horii, Brandon D. Newell, Amy J. Nopper, Maria C. Garzon, Margaret E. Scollan, Erin F. Mathes

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: To characterize long-term outcomes of PHACE syndrome.

STUDY DESIGN: Multicenter study with cross-sectional interviews and chart review of individuals with definite PHACE syndrome ≥10 years of age. Data from charts were collected across multiple PHACE-related topics. Data not available in charts were collected from patients directly. Likert scales were used to assess the impact of specific findings. Patient-Reported Outcomes Measurement Information System (PROMIS) scales were used to assess quality of life domains.

RESULTS: A total of 104/153 (68%) individuals contacted participated in the study at a median of 14 years of age (range 10-77 years). There were infantile hemangioma …

Efficacy Of Behavioral Economic Nudges To Assist Teen Mothers: The Healthy Adolescent Transitions Randomized Controlled Trial., Jack Stevens, Joseph Rausch, Robyn Lutz, Ngozi Osuagwu

Women’s Health Articles

Communities may often lack the resources to deliver intensive programs to assist teen mothers, and many eligible adolescents may decline participation in lengthy interventions. Therefore, alternative approaches involving less resource and time may be needed. Behavioral economics (BE) can inform the development of such novel interventions. BE often feature low-intensity approaches designed to "nudge" people to help them reach their long-term goals. Nudges can include giving reminders, making the desired behavior more convenient, and optimizing the verbal presentation of recommended options. Three hundred thirty-one American adolescents (ages 14 to 19) who were 22 to 35 weeks pregnant were enrolled in …

Socioeconomic Status And Chronic Health Conditions In Asian Survivors Of Adolescent And Young Adult Cancers, Amy M Berkman, Eunju Choi, Christabel K Cheung, John M Salsman, Susan K Peterson, Clark R Andersen, Qian Lu, J Andrew Livingston, Michelle A T Hildebrandt, Susan K Parsons, Michael E Roth

Faculty, Staff and Student Publications

Purpose: While there are known disparities in socioeconomic status (SES) and health outcomes among racially and ethnically minoritized adolescent and young adult (AYA; ages 15-39 years at diagnosis) cancer survivors compared with White survivors, outcomes in the Asian survivor population are understudied. To better understand the association of an AYA cancer diagnosis with SES and health outcomes within a minoritized population, the current study makes comparisons between individuals of the same race or ethnicity with and without a history of AYA cancer.

Methods: Non-Hispanic, Asian AYA cancer survivors and non-Hispanic, Asian age- and sex-matched controls were identified from self-reported data …

Temporal Changes In Treatment And Late Mortality And Morbidity In Adult Survivors Of Childhood Glioma: A Report From The Childhood Cancer Survivor Study, Peter M K De Blank, Katharine R Lange, Mengqi Xing, Sedigheh Mirzaei Salehabadi, Deokumar Srivastava, Tara M Brinkman, Kirsten K Ness, Kevin C Oeffinger, Joseph Neglia, Kevin R Krull, Paul C Nathan, Rebecca Howell, Lucie M Turcotte, Wendy Leisenring, Gregory T Armstrong, M Fatih Okcu, Daniel C Bowers

Faculty, Staff and Student Publications

Pediatric glioma therapy has evolved to delay or eliminate radiation for low-grade tumors. This study examined these temporal changes in therapy with long-term outcomes in adult survivors of childhood glioma. Among 2,501 5-year survivors of glioma in the Childhood Cancer Survivor Study diagnosed 1970-1999, exposure to radiation decreased over time. Survivors from more recent eras were at lower risk of late mortality (≥5 years from diagnosis), severe/disabling/life-threatening chronic health conditions (CHCs) and subsequent neoplasms (SNs). Adjusting for treatment exposure (surgery only, chemotherapy, or any cranial radiation) attenuated this risk (for example, CHCs (1990s versus 1970s), relative risk (95% confidence interval), …

Long-Term Implantable Ventricular Assist Device Support In Children, Junsang Cho, Hari P Tunuguntla, Sebastian C Tume, Joseph A Spinner, Claire E Bocchini, Jun Teruya, Jeffrey S Heinle, Edward J Hickey, Iki Adachi

Faculty, Staff and Students Publications

Background: In pediatrics, implantable continuous-flow ventricular assist devices (IC-VAD) are often used as a "temporary" support, bridging children to cardiac transplantation during the same hospital admission.

Methods: We conducted a retrospective review of our consecutive patients undergoing IC-VAD support at a tertiary pediatric heart center between 2008 and 2022.

Results: We identified 100 IC-VAD implant encounters: HeartWare HVAD (67; 67%), HeartMate II (17; 17%), and HeartMate 3 (16; 16%). The median (range) age, weight, and body surface area at implantation were 14.1 (3.0-56.5) years, 54.8 (13.3-140) kg, and 1.6 (0.6-2.6) m2, respectively. Cardiomyopathy (58; 58%) was the most common etiology, …

Functional Vision In Patients With Biallelic Ush2a Variants, Elise Heon, Michele Melia, Laura E Bocchino, Lassana Samarakoon, Jacque L Duncan, Allison R Ayala, Isabelle Audo, Chris Bradley, Janet K Cheetham, Gislin Dagnelie, Todd A Durham, Carel B Hoyng, Nieraj Jain, Kanishka T Jayasundera, Mark E Pennesi, Christina Y Weng, Foundation Fighting Blindness Consortium Investigator Group

Faculty, Staff and Students Publications

Purpose: To describe functional vision (FV) and investigate the relationship between FV, visual acuity (VA), and hill of vision (VTOT) at baseline in patients with biallelic USH2A variants.

Design: Multicenter, international, cross-sectional study.

Methods: In individuals with biallelic disease-causing variants in USH2A, clinical diagnosis of Usher syndrome type 2 (USH2) or autosomal recessive nonsyndromic retinitis pigmentosa (ARRP) was based on history of hearing loss and audiology examinations. The VALVVFQ-48 was administered verbally to participants ≥18 years old. VA was measured in both eyes; VTOT was determined from static perimetry in the study eye (better VA). FV scores were calculated using …

The Impact Of Individual-Level Income Predicted From The Brfss On The Association Between Insurance Status And Overall Survival Among Adults With Cancer From The Seer Program, Justin M Barnes, Kimberly J Johnson, Nosayaba Osazuwa-Peters, Matthew B Spraker

2020-Current year OA Pubs

INTRODUCTION: Among patients with cancer in the United States, Medicaid insurance is associated with worse outcomes than private insurance and with similar outcomes as being uninsured. However, prior studies have not addressed the impact of individual-level socioeconomic status, which determines Medicaid eligibility, on the associations of Medicaid status and cancer outcomes. Our objective was to determine whether differences in cancer outcomes by insurance status persist after accounting for individual-level income.

METHODS: The Surveillance, Epidemiology, and End Results (SEER) database was queried for 18-64 year-old individuals with cancer from 2014-2016. Individual-level income was imputed using a model trained on Behavioral Risk …