Medical Specialties Commons^™

Effective Methods For Bulk Rna-Seq Deconvolution Using Scnrna-Seq Transcriptomes, Francisco Avila Cobos, Mohammad Javad Najaf Panah, Jessica Epps, Xiaochen Long, Tsz-Kwong Man, Hua-Sheng Chiu, Elad Chomsky, Evgeny Kiner, Michael J Krueger, Diego Di Bernardo, Luis Voloch, Jan Molenaar, Sander R Van Hooff, Frank Westermann, Selina Jansky, Michele L Redell, Pieter Mestdagh, Pavel Sumazin

Faculty, Staff and Students Publications

Background: RNA profiling technologies at single-cell resolutions, including single-cell and single-nuclei RNA sequencing (scRNA-seq and snRNA-seq, scnRNA-seq for short), can help characterize the composition of tissues and reveal cells that influence key functions in both healthy and disease tissues. However, the use of these technologies is operationally challenging because of high costs and stringent sample-collection requirements. Computational deconvolution methods that infer the composition of bulk-profiled samples using scnRNA-seq-characterized cell types can broaden scnRNA-seq applications, but their effectiveness remains controversial.

Results: We produced the first systematic evaluation of deconvolution methods on datasets with either known or scnRNA-seq-estimated compositions. Our analyses revealed …

Prevalence, Management And Efficacy Of Treatment In Portal Vein Obstruction After Paediatric Liver Transplantation: Protocol Of The Retrospective International Multicentre Portal Registry., Bader A. Alfares, Hubert P J Van Der Doef, Barbara E. Wildhaber, Thomas Casswall, Greg Nowak, Martin Delle, Denise Aldrian, Valeria Berchtold, Georg F. Vogel, Piotr Kaliciński, Malgorzata Markiewicz-Kijewska, Adam Kolesnik, Jesús Q. Bernabeu, María Mercadal Hally, Mauricio Larrarte K, Paolo Marra, Michela Bravi, Domenico Pinelli, Mureo Kasahara, Seisuke Sakamoto, Hajime Uchida, Vidyadhar Mali, Marion Aw, Stéphanie Franchi-Abella, Emmanuel Gonzales, Florent Guérin, Guillermo Cervio, Julia Minetto, Sergio Sierre, Martin De Santibañes, Victoria Ardiles, Jimmy Walker Uno, Helen Evans, David Duncan, John Mccall, Steffen Hartleif, Ekkehard Sturm, Jai Patel, Marumbo Mtegha, Raj Prasad, Cristina T. Ferreira, Luiza S. Nader, Marco Farina, Catalina Jaramillo, Manuel I. Rodriguez-Davalos, Peter Feola, Amit A. Shah, Phoebe M. Wood, Michael R. Acord, Ryan T. Fischer, Bhargava Mullapudi, Richard J. Hendrickson, Rajeev Khanna, Viniyendra Pamecha, Amar Mukund, Khalid Sharif, Girish Gupte, Simon Mcguirk, Gilda Porta, Marco Spada, Tommaso Alterio, Giuseppe Maggiore, Winita Hardikar, Marisa Beretta, Rudi Dierckx, Ruben H J De Kleine, Reinoud P H Bokkers

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Portal vein obstruction (PVO) consists of anastomotic stenosis and thrombosis, which occurs due to a progression of the former. The aim of this large-scale international study is to assess the prevalence, current management practices and efficacy of treatment in patients with PVO.

METHODS AND ANALYSIS: The Portal vein Obstruction Revascularisation Therapy After Liver transplantation registry will facilitate an international, retrospective, multicentre, observational study, with 25 centres around the world already actively involved. Paediatric patients (agedyears) with a diagnosed PVO between 1 January 2001 and 1 January 2021 after liver transplantation will be eligible for inclusion. The primary endpoints are …

Islet: Individual-Specific Reference Panel Recovery Improves Cell-Type-Specific Inference, Hao Feng, Guanqun Meng, Tong Lin, Hemang Parikh, Yue Pan, Ziyi Li, Jeffrey Krischer, Qian Li

Faculty, Staff and Student Publications

We propose a statistical framework ISLET to infer individual-specific and cell-type-specific transcriptome reference panels. ISLET models the repeatedly measured bulk gene expression data, to optimize the usage of shared information within each subject. ISLET is the first available method to achieve individual-specific reference estimation in repeated samples. Using simulation studies, we show outstanding performance of ISLET in the reference estimation and downstream cell-type-specific differentially expressed genes testing. We apply ISLET to longitudinal transcriptomes profiled from blood samples in a large observational study of young children and confirm the cell-type-specific gene signatures for pancreatic islet autoantibody. ISLET is available at https://bioconductor.org/packages/ISLET …

Telehealth Diagnosis Of Autism Spectrum Disorder Through Clinical Cases, Emmanuela Ojukwu, Eunice Bawafaa, Sara Afsah, Shivangi Singh, Harsimran Grewal, Zainab Raja, Emily Mckay

Faculty, Staff and Student Publications

INTRODUCTION: African, Caribbean and Black (ACB) adolescents are disproportionately affected by teen pregnancy in North America. Teen pregnancy poses risks to the quality of life of adolescent boys and girls, including physical, psychosocial and socioeconomic risks. Our review aims to explore this public health concern for ACB adolescents within North America. We aim to identify and analyse available evidence on the incidence and prevalence of, associated factors of and interventions to curtail teen pregnancy involvement (TPI) among ACB adolescent boys and girls in North America. This review will explore TPI, rather than teen pregnancy, to ensure a review of men' …

Competencies For Psychology Practice In Pediatric Palliative Care, Amanda L Thompson, Megan R Schaefer, Sarah R Mccarthy, Aimee K Hildenbrand, Melissa K Cousino, Meghan L Marsac, Jill Majeski, Karen Wohlheiter, Rachel A Kentor

Faculty, Staff and Students Publications

Objective: Pediatric psychologists have unique expertise to contribute to the care of youth with serious illnesses yet are not routinely integrated into pediatric palliative care (PPC) teams. To better define the role and unique skillset of psychologists practicing in PPC, support their systematic inclusion as part of PPC teams, and advance trainee knowledge of PPC principles and skills, the PPC Psychology Working Group sought to develop core competencies for psychologists in this subspecialty.

Methods: A Working Group of pediatric psychologists with expertise in PPC met monthly to review literature and existing competencies in pediatrics, pediatric and subspecialty psychology, adult palliative …

Satisfaction With Participation In The First Steps Behavioral Intervention: Experiences Of Parents Of Young Children With Newly Diagnosed Type 1 Diabetes, Marissa N Baudino, Hailey Inverso, Christine Wang, Carrie Tully, Wendy Levy, Lauren Clary, Katherine A Gallagher, Maureen Monaghan, Randi Streisand, Marisa E Hilliard

Faculty, Staff and Students Publications

OBJECTIVE: Parents of young children with new-onset type 1 diabetes (T1D) often experience significant distress and struggle with T1D management during a challenging developmental stage. The First STEPS (Study of Type 1 in Early childhood and Parenting Support) trial evaluated a stepped-care behavioral intervention comprising increasingly intensive intervention steps (peer parent coach, cognitive-behavioral counseling, consultations with diabetes educator and psychologist) based on need. The intervention improved parental depressive symptoms compared to usual care. Subsequently, we examined parent satisfaction with the intervention to guide potential implementation and refinement for future trials.

METHODS: Participants were 157 parents of young children newly diagnosed …

Many Pediatric Patients With Gastroparesis Do Not Receive Dietary Education, Debra Eseonu, Deepa Dongarwar, Hamisu Salihu, Bruno P Chumpitazi, Robert J Shulman

Faculty, Staff and Students Publications

BACKGROUND: Gastroparesis is delayed gastric emptying in the absence of obstruction; dietary modifications are first-line treatment. However, we do not know the factors related to provision of dietary recommendations.

METHODS: We sought to determine how often pediatric patients with gastroparesis receive dietary education (from a gastroenterology provider vs dietitian), the recommendations given, and factors related to these outcomes. We performed a retrospective chart review of children 2- to 18-years-old managed by pediatric gastroenterology providers at our institution. Patient demographics and clinical data, dietary advice given (if any), and dietitian consultation (if any), practice location, and prokinetic use were captured. An …

Pediatric Phase 2 Trial Of A Wee1 Inhibitor, Adavosertib (Azd1775), And Irinotecan For Relapsed Neuroblastoma, Medulloblastoma, And Rhabdomyosarcoma, Kristina A Cole, Heba Ijaz, Lea F Surrey, Mariarita Santi, Xiaowei Liu, Charles G Minard, John M Maris, Stephan Voss, Joel M Reid, Elizabeth Fox, Brenda J Weigel

Faculty, Staff and Students Publications

BACKGROUND: Inhibition of the WEE1 kinase by adavosertib (AZD1775) potentiates replicative stress from genomic instability or chemotherapy. This study reports the pediatric solid tumor phase 2 results of the ADVL1312 trial combining irinotecan and adavosertib.

METHODS: Pediatric patients with recurrent neuroblastoma (part B), medulloblastoma/central nervous system embryonal tumors (part C), or rhabdomyosarcoma (part D) were treated with irinotecan and adavosertib orally for 5 days every 21 days. The combination was considered effective if there were at least three of 20 responses in parts B and D or six of 19 responses in part C. Tumor tissue was analyzed for alternative …

Brentuximab Vedotin After Autologous Transplantation In Pediatric Patients With Relapsed/Refractory Hodgkin Lymphoma, Christopher J Forlenza, Jaclyn Rosenzweig, Audrey Mauguen, Ilia Buhtoiarov, Branko Cuglievan, Hema Dave, Rebecca J Deyell, Jamie E Flerlage, Anna K Franklin, Jennifer Krajewski, Kasey J Leger, Lianna J Marks, Robin E Norris, Martha Pacheco, Faye Willen, Adam Paul Yan, Paul D Harker-Murray, Lisa Giulino-Roth

Faculty, Staff and Student Publications

Outcomes for children and adolescents with relapsed and refractory Hodgkin lymphoma (HL) are poor, with ∼50% of patients experiencing a subsequent relapse. The anti-CD30 antibody-drug conjugate brentuximab vedotin improved progression-free survival (PFS) when used as consolidation after autologous stem cell transplantation (ASCT) in adults with high-risk relapsed/refractory HL. Data on brentuximab vedotin as consolidative therapy after ASCT in pediatric patients with HL are extremely limited, with data of only 11 patients reported in the literature. We performed a retrospective analysis of 67 pediatric patients who received brentuximab vedotin as consolidation therapy after ASCT for the treatment of relapsed/refractory HL to …

Accumulation Of Chronic Disease Among Survivors Of Childhood Cancer Predicts Early Mortality, Adam J Esbenshade, Lu Lu, Debra L Friedman, Kevin C Oeffinger, Gregory T Armstrong, Kevin R Krull, Joseph P Neglia, Wendy M Leisenring, Rebecca Howell, Robyn Partin, Amy Sketch, Leslie L Robison, Kirsten K Ness

Faculty, Staff and Student Publications

Purpose: Cancer survivors develop cancer and treatment-related morbidities at younger than normal ages and are at risk for early mortality, suggestive of an aging phenotype. The Cumulative Illness Rating Scale for Geriatrics (CIRS-G) is specifically designed to describe the accumulation of comorbidities over time with estimates of severity such as total score (TS) which is a sum of possible conditions weighted by severity. These severity scores can then be used to predict future mortality.

Methods: CIRS-G scores were calculated in cancer survivors and their siblings from Childhood Cancer Survivor Study cohort members from two time points 19 years apart and …

Phenotype And Genotype Heterogeneity Of Pla2g6-Associated Neurodegeneration In A Cohort Of Pediatric And Adult Patients, Ali Zare Dehnavi, Maryam Bemanalizadeh, Seyyed Mohammad Kahani, Mahmoud Reza Ashrafi, Mohammad Rohani, Mehran Beiraghi Toosi, Morteza Heidari, Sareh Hosseinpour, Behnam Amini, Shaghayegh Zokaei, Zahra Rezaei, Hajar Aryan, Man Amanat, Hassan Vahidnezhad, Pouria Mohammadi, Masoud Garshasbi, Ali Reza Tavasoli

Department of Dermatology and Cutaneous Biology Faculty Papers

BACKGROUND: Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-parkinsonism are the main two subtypes. In this cohort, we reviewed clinical, imaging, and genetic features of 25 adult and pediatric patients harboring variants in the PLA2G6.

METHODS: An extensive review of the patients' data was carried out. Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS) was used for evaluating the severity and progression of INAD patients. Whole-exome sequencing was used to determine the disease's underlying etiology followed by co-segregation analysis using Sanger sequencing. In …

Per Oral Endoscopic Myotomy In Pregnancy, Julie Gomez, Laura Felder, Divya Chalikonda, Alexander Schlachterman, Vincenzo Berghella

Department of Obstetrics and Gynecology Faculty Papers

OBJECTIVE: To report the first successful full-term delivery following Per Oral Endoscopic Myotomy (POEM) performed during pregnancy.

METHODS/BACKGROUND: Achalasia is an esophageal motility disorder characterized by dysphagia, regurgitation, reflux, recurrent vomiting, and weight loss. Achalasia in pregnancy can affect nutritional status of the mother, and subsequently, the child, increasing morbidity and creating potential pregnancy complications. POEM is a novel endoscopic procedure which involves cutting the lower esophageal sphincter to allow food to pass, and is considered a safe and effective management option for achalasia in non-pregnant individuals.

RESULTS: We discuss the case of a patient with achalasia and a prior …

Conditional Metastasis Of Uveal Melanoma In 8091 Patients Over Half-Century (51 Years) By Age Group: Assessing The Entire Population And The Extremes Of Age, Carol L. Shields, Annika Samuelson, Glenn Oh, Joseph D. Desimone, Zaynab Sajjadi, Zeynep Bas, Nicholas E Kalafatis, Sara E. Lally, Jerry A. Shields, Philip W. Dockery

Wills Eye Hospital Papers

PURPOSE: To evaluate cumulative incidence of metastasis at specific timepoints after treatment of uveal melanoma in a large cohort of patients and to provide comparison of conditional outcomes in the youngest and oldest cohorts (extremes of age).

METHODS: Retrospective analysis of 8091 consecutive patients with uveal melanoma at a single center over a 51-year period. The patients were categorized by age at presentation (0-29 years [n = 348, 4%], 30-59 years [n = 3859, 48%], 60-79 years [n = 3425, 42%], 80 to 99 years [n = 459, 6%]) and evaluated for nonconditional (from presentation date) and conditional (from specific …

Prognostic And Predictive Value Of Endothelial Dysfunction Biomarkers In Sepsis-Associated Acute Kidney Injury: Risk-Stratified Analysis From A Prospective Observational Cohort Of Pediatric Septic Shock., Mihir R. Atreya, Natalie Z. Cvijanovich, Julie C. Fitzgerald, Scott L. Weiss, Michael T. Bigham, Parag N. Jain, Adam J. Schwarz, Riad Lutfi, Jeffrey Nowak, Geoffrey L. Allen, Neal J. Thomas, Jocelyn R. Grunwell, Torrey Baines, Michael Quasney, Bereketeab Haileselassie, Matthew N. Alder, Stuart L. Goldstein, Natalja L. Stanski

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Sepsis-associated acute kidney injury (SA-AKI) is associated with high morbidity, with no current therapies available beyond continuous renal replacement therapy (CRRT). Systemic inflammation and endothelial dysfunction are key drivers of SA-AKI. We sought to measure differences between endothelial dysfunction markers among children with and without SA-AKI, test whether this association varied across inflammatory biomarker-based risk strata, and develop prediction models to identify those at highest risk of SA-AKI.

METHODS: Secondary analyses of prospective observational cohort of pediatric septic shock. Primary outcome of interest was the presence of ≥ Stage II KDIGO SA-AKI on day 3 based on serum creatinine …

Effects Of A School-Based Gardening, Cooking, And Nutrition Cluster Randomized Controlled Trial On Unprocessed And Ultra-Processed Food Consumption, Matthew R Jeans, Matthew J Landry, Sarvenaz Vandyousefi, Erin A Hudson, Marissa Burgermaster, Molly S Bray, Joya Chandra, Jaimie N Davis

Faculty, Staff and Student Publications

BACKGROUND: School-based gardening and nutrition education interventions report improvements in dietary intake, notably through fruit and vegetables. However, gardening, cooking, and nutrition randomized controlled trials are limited in evaluating dietary quality, and none have examined processed food consumption to date.

OBJECTIVES: The study examined the effects of Texas Sprouts (TX Sprouts), a gardening, cooking, and nutrition education intervention, compared with control on unprocessed and ultra-processed food (UPF) consumption in predominately low-income Hispanic children.

METHODS: TX Sprouts was a school-based cluster randomized controlled trial that consisted of 16 elementary schools randomly assigned to either the TX Sprouts intervention (n = 8 …

Mathematical Analysis Of Hemoglobin Target In Univentricular Parallel Circulation, Mubbasheer Ahmed, Sebastian I Acosta, George M Hoffman, James S Tweddell, Nancy S Ghanayem

Faculty, Staff and Students Publications

Objective: The hemoglobin threshold for a decision to transfuse red blood cells in univentricular patients with parallel circulation is unclear. A pediatric expertise initiative put forth a "weak recommendation" for avoiding reflexive transfusion beyond a hemoglobin of 9 g/dL. We have created a mathematical model to assess the impact of hemoglobin thresholds in patients with parallel circulation.

Methods: A univentricular circulation was mathematically modeled. We examined the impact on oxygen extraction ratios and systemic and venous oxygen saturations by varying hemoglobin levels, pulmonary to systemic blood flow ratios, and total cardiac output.

Results: Applying a total cardiac index of 6 …

Characterizing The Influence Of Exposure To Military Sexual Trauma And Intimate Partner Violence On Mental Health Outcomes Among Female Veterans, Carrie Esopenko, Nicola De Souza, Elisabeth A Wilde, Kristen Dams-O'Connor, Ellen Teng, Deleene S Menefee

Faculty, Staff and Students Publications

Military sexual trauma (MST) has deleterious long-term psychological consequences. Among female U.S. military members, MST is associated with increased risk for future interpersonal victimization, such as experiencing intimate partner violence (IPV). Few studies have investigated the implications of the cumulative effects of IPV and MST on psychological functioning. This study examined rates of co-exposure to MST, IPV, and their cumulative impact on psychological symptoms. Data were collected from 308 female Veterans (FVets; age:

Long-Term Continuous Glucose Monitor Use In Very Young Children With Type 1 Diabetes: One-Year Results From The Sence Study, Michelle A Van Name, Lauren G Kanapka, Linda A Dimeglio, Kellee M Miller, Anastasia Albanese-O'Neill, Persis Commissariat, Sarah D Corathers, Kara R Harrington, Marisa E Hilliard, Barbara J Anderson, Jennifer C Kelley, Lori M Laffel, Sarah A Macleish, Brandon M Nathan, William V Tamborlane, R Paul Wadwa, Steven M Willi, Kristen M Williams, Kupper A Wintergerst, Stephanie Woerner, Jenise C Wong, Daniel J Desalvo

Faculty, Staff and Students Publications

OBJECTIVES: Achieving optimal glycemic outcomes in young children with type 1 diabetes (T1D) is challenging. This study examined the durability of continuous glucose monitoring (CGM) coupled with a family behavioral intervention (FBI) to improve glycemia.

STUDY DESIGN: This one-year study included an initial 26-week randomized controlled trial of CGM with FBI (CGM+FBI) and CGM alone (Standard-CGM) compared with blood glucose monitoring (BGM), followed by a 26-week extension phase wherein the BGM Group received the CGM+FBI (BGM-Crossover) and both original CGM groups continued this technology.

RESULTS: Time in range (70-180 mg/dL) did not improve with …

Defining The Full Spectrum Of Pediatric Firearm Injury And Death In The United States: It Is Even Worse Than We Think, Bindi J Naik-Mathuria, Cary M Cain, Elizabeth A Alore, Liang Chen, Lisa A Pompeii

Faculty, Staff and Students Publications

OBJECTIVE: To characterize the full spectrum of pediatric firearm injury in the United States by describing fatal and nonfatal injury data epidemiology, vulnerable populations, and temporal trends.

BACKGROUND: Firearm injury is the leading cause of death in children and adolescents in the United States. Nonfatal injury is critical to fully define the problem, yet accurate data at the national level are lacking.

METHODS: A cross-sectional study combining national firearm injury data from the Centers for Disease Control (fatal) and the National Trauma Data Bank (nonfatal) between 2008 and 2019 for ages 0 to 17 years. Data were analyzed using descriptive …

Pediatric Vitamin D: Pseudo-Hypervitaminosis, Lily Olayinka, Izmarie Poventud-Fuentes, Emily Garnett, Sridevi Devaraj

Faculty, Staff and Students Publications

BACKGROUND: Vitamin D toxicity is rare in pediatric population. Falsely elevated levels of 25-hydroxyvitamin D have been reported as a major challenge with immunoassay methods for quantifying vitamin D metabolites.

CASE PRESENTATION AND METHOD: Here, we present two pediatric cases of falsely elevated 25-hydroxyvitamin D that resulted in unnecessary further testing. We also report significant same-day variation in the measurement of 25-hydroxyvitamin D using the Abbott i2000SR immunoassay. Samples were spun twice and their values were confirmed with the gold standard liquid chromatography-tandem mass spectrometry (LC-MS/MS) method for confirmation.

CONCLUSION: The addition of a centrifugation step prior to sample testing …

Barriers To A Successful Healthcare Transition For Individuals With Urea Cycle Disorders, Farah A Ladha, Cynthia Le Mons, William J Craigen, Pilar L Magoulas, Ronit Marom, Andrea M Lewis

Faculty, Staff and Students Publications

The pediatric to adult healthcare transition (HCT) is a process for individuals with chronic health conditions to gradually shift from a pediatric to an adult-oriented care system. Autonomy and self-management skills required for an individual's HCT readiness can be evaluated through the transition readiness assessment questionnaire (TRAQ). Despite general HCT preparation guidelines, little is known about the HCT experience of individuals with a urea cycle disorder (UCD). This is the first study to report the parent or guardian perception of the HCT process in children with a UCD by investigating the stages of transition readiness and transition outcome. We identify …

Outcomes Of Temporary Ventricular Assist Device: A Pediatric Institutional Experience Over 25 Years, Junsang Cho, Andres A Fuentes-Baldemar, Hari P Tunuguntla, Joseph A Spinner, Sebastian C Tume, Athar M Qureshi, Jun Teruya, Jeffrey S Heinle, Iki Adachi

Faculty, Staff and Students Publications

Background: There are scarce data describing outcomes of pediatric temporary ventricular assist device support.

Methods: A retrospective single-center study was conducted to review clinical outcomes of all consecutive patients with temporary ventricular assist device between 1996 and 2021. Given the complex clinical course in some patients requiring multiple temporary ventricular assist device runs, outcome analysis was based on "encounters" (hospitalizations with temporary ventricular assist device, regardless of the number of devices used).

Results: In total, 126 temporary ventricular assist devices were implanted in 108 patients, resulting in a total of 114 encounters: 70 (61%) extracorporeal centrifugal pumps and 44 (39%) …

Multi-Center Validation Of The Mcgovern Pediatric Blunt Cerebrovascular Injury Screening Score, Sidish S Venkataraman, Joseph P Herbert, Vijay M Ravindra, Bangning N Yu, Robert J Bollo, Charles S Cox, Stephen R Gannon, David D Limbrick, Robert P Naftel, Irma T Ugalde, Brian K Yorkgitis, Howard L Weiner, Manish N Shah

Faculty, Staff and Student Publications

Blunt cerebrovascular injury (BCVI) is defined as blunt trauma to the head and neck leading to damage to the vertebral and/or carotid arteries; debate exists regarding which children are considered at high risk for BCVI and in need of angiographic/vessel imaging. We previously proposed a screening tool, the McGovern score, to identify pediatric trauma patients at high risk for BCVI, and we aim to validate the McGovern score by pooling data from multiple pediatric trauma centers. This is a multi-center, hospital-based, cohort study from all prospectively registered pediatric (age) trauma patients who presented to the emergency department (ED) between 2003 …

Stress Responses And Ammonia Nitrogen Removal Efficiency Of Oocystis Lacustris In Saline Ammonium-Contaminated Wastewater Treatment, Linda Ewing-Cobbs, Christina V Danna, Tammy D Tolar, Douglas Granger, Charles S Cox, Mary R Prasad

Faculty, Staff and Student Publications

Traumatic injury is linked increasingly to alterations in both stress response systems and psychological health. We investigated reactivity of salivary analytes of the hypothalamic-pituitary-adrenal axis (cortisol) and autonomic nervous system (salivary alpha amylase, sAA) during a psychosocial stress procedure in relation to psychological health outcomes. In a prospective cohort design, stress reactivity of children ages 8 to 15 years hospitalized for traumatic brain injury (TBI; n = 74) or extracranial injury (EI; n = 35) was compared with healthy controls (n = 51) 7 months after injury. Area under the curve increase (AUCinc) assessed pre-stressor to post-stressor cortisol and …

Resection Cavity Auto-Contouring For Patients With Pediatric Medulloblastoma Using Only Ct Information, Soleil Hernandez, Callistus Nguyen, Skylar Gay, Jack Duryea, Rebecca Howell, David Fuentes, Jeannette Parkes, Hester Burger, Carlos Cardenas, Arnold C Paulino, Julianne Pollard-Larkin, Laurence Court

Faculty, Staff and Student Publications

PURPOSE: Target delineation for radiation therapy is a time-consuming and complex task. Autocontouring gross tumor volumes (GTVs) has been shown to increase efficiency. However, there is limited literature on post-operative target delineation, particularly for CT-based studies. To this end, we trained a CT-based autocontouring model to contour the post-operative GTV of pediatric patients with medulloblastoma.

METHODS: One hundred four retrospective pediatric CT scans were used to train a GTV auto-contouring model. Eighty patients were then preselected for contour visibility, continuity, and location to train an additional model. Each GTV was manually annotated with a visibility score based on the number …

Management Of Pediatric Appendicitis During The Covid-19 Pandemic: A Nationwide Multicenter Cohort Study, Brittany Hegde, Elisa Garcia, Andrew Hu, Mehul Raval, Sanyu Takirambudde, Derek Wakeman, Ruth Lewit, Ankush Gosain, Raphael H Parrado, Robert A Cina, Krista Stephenson, Melvin S Dassinger, Daniel Zhang, Moiz M Mustafa, Donna Koo, Aaron M Lipskar, Katherine Scheidler, Kyle J Van Arendonk, Patrick Berg, Raquel Gonzalez, Daniel Scheese, Jeffrey Haynes, Alexander Mina, Irving J Zamora, Monica E Lopez, Steven C Mehl, Elizabeth Gilliam, Katrina Lofberg, Brianna Spencer, Afif N Kulaylat, Brian C Gulack, Matthew Johnson, Matthew Laskovy, Pavan Brahmamdam, Aoi Shimomura, Therese Blanch, Kuojen Tsao, Bethany J Slater

Faculty, Staff and Student Publications

BACKGROUND: The COVID-19 pandemic has impacted timely access to care for children, including patients with appendicitis. This study aimed to evaluate the effect of the COVID-19 pandemic on management of appendicitis and patient outcomes.

METHODS: A multicenter retrospective study was performed including 19 children's hospitals from April 2019-October 2020 of children (age≤18 years) diagnosed with appendicitis. Groups were defined by each hospital's city/state stay-at-home orders (SAHO), designating patients as Pre-COVID (Pre-SAHO) or COVID (Post-SAHO). Demographic, treatment, and outcome data were obtained, and univariate and multivariable analysis was performed.

RESULTS: Of 6,014 patients, 2,413 (40.1%) presented during the COVID-19 pandemic. More …

Development Of Cancer Surveillance Guidelines In Ataxia Telangiectasia: A Delphi-Based Consensus Survey Of International Experts, Renata Neves, Blanca De Dios Perez, Rafal Panek, Sumit Jagani, Sophie Wilne, Jayesh M Bhatt, Caterina Caputi, Emilia Cirillo, David J Coman, Gregor Dückers, Donald L Gilbert, Mary Kay Koenig, Lobna Mansour, Elizabeth Mcdermott, Micaela Pauni, Claudio Pignata, Susan L Perlman, Oscar Porras, Mariela Betina Porto, Katherine Schon, Pere Soler-Palacin, Sam Nick Russo, Masatoshi Takagi, Marc Tischkowitz, Claire Wainwright, Madhumita Dandapani, Cristine Glazebrook, Mohnish Suri, William P Whitehouse, Robert A Dineen

Faculty, Staff and Student Publications

BACKGROUND/OBJECTIVES: Ataxia telangiectasia (A-T) is a multiorgan disorder with increased vulnerability to cancer. Despite this increased cancer risk, there are no widely accepted guidelines for cancer surveillance in people affected by A-T. We aimed to understand the current international practice regarding cancer surveillance in A-T and agreed-upon approaches to develop cancer surveillance in A-T.

DESIGN/METHODS: We used a consensus development method, the e-Delphi technique, comprising three rounds. Round 1 consisted of a Delphi questionnaire and a survey that collected the details of respondents' professional background, experience, and current practice of cancer surveillance in A-T. Rounds 2 and 3 were designed …

Epilepsy Severity Is Associated With Head Circumference And Growth Rate In Infants With Tuberous Sclerosis Complex, Alexis Levine, Peter Davis, Bo Zhang, Jurriaan Peters, Rajna Filip-Dhima, Simon K Warfield, Anna Prohl, Jamie Capal, Darcy Krueger, E Martina Bebin, Hope Northrup, Joyce Y Wu, Mustafa Sahin

Faculty, Staff and Student Publications

BACKGROUND: Abnormal brain growth in tuberous sclerosis complex (TSC) reflects abnormalities in cellular proliferation and differentiation and results in epilepsy and other neurological manifestations. Head circumference (HC) as a proxy for brain volume may provide an easily tracked clinical measure of brain overgrowth and neurological disease burden. This study investigated the relationship between HC and epilepsy severity in infants with TSC.

METHODS: Prospective multicenter observational study of children from birth to three years with TSC. Epilepsy data were collected from clinical history, and HC was collected at study visits at age three, six, nine, 12, 18, 24, and 36 months. …

The Genetics Of Primary Ciliary Dyskinesia In Puerto Rico, Paolo Zanoni, Katharina Steindl, Heinrich Sticht, Beatrice Oneda, Pascal Joset, Ivan Ivanovski, Anselm H C Horn, Elena M Cabello, Julia Laube, Markus Zweier, Alessandra Baumer, Anita Rauch, Nadia Khan

Faculty, Staff and Student Publications

Pediatric Moyamoya Angiopathy (MMA) is a progressive intracranial occlusive arteriopathy that represents a leading cause of transient ischemic attacks and strokes in childhood. Despite this, up to now no large, exclusively pediatric MMA cohort has been subjected to systematic genetic investigation. In this study, we performed molecular karyotyping, exome sequencing and automated structural assessment of missense variants on a series of 88 pediatric MMA patients and correlated genetic, angiographic and clinical (stroke burden) findings. The two largest subgroups in our cohort consisted of RNF213 and neurofibromatosis type 1 (NF1) patients. While deleterious RNF213 variants were associated with a severe MMA …

Difficult Or Impossible Facemask Ventilation In Children With Difficult Tracheal Intubation: A Retrospective Analysis Of The Pedi Registry, Annery G Garcia-Marcinkiewicz, Lisa K Lee, Bishr Haydar, John E Fiadjoe, Clyde T Matava, Pete G Kovatsis, James Peyton, Mary L Stein, Raymond Park, Brad M Taicher, Thomas W Templeton

Faculty, Staff and Student Publications

BACKGROUND: Difficult facemask ventilation is perilous in children whose tracheas are difficult to intubate. We hypothesised that certain physical characteristics and anaesthetic factors are associated with difficult mask ventilation in paediatric patients who also had difficult tracheal intubation.

METHODS: We queried a multicentre registry for children who experienced "difficult" or "impossible" facemask ventilation. Patient and case factors known before mask ventilation attempt were included for consideration in this regularised multivariable regression analysis. Incidence of complications, and frequency and efficacy of rescue placement of a supraglottic airway device were also tabulated. Changes in quality of mask ventilation after injection of a …