Medicine and Health Sciences Commons^™

Genetic Testing In Children With Nephrolithiasis And Nephrocalcinosis, Ashley M Gefen, Christine B Sethna, Onur Cil, Farzana Perwad, Megan Schoettler, Mini Michael, Joseph R Angelo, Adnan Safdar, Louise Amlie-Wolf, Tracy E Hunley, Jonathan S Ellison, Daniel Feig, Joshua Zaritsky

Faculty, Staff and Students Publications

BACKGROUND: Diagnosing genetic kidney disease has become more accessible with low-cost, rapid genetic testing. The study objectives were to determine genetic testing diagnostic yield and examine predictors of genetic diagnosis in children with nephrolithiasis/nephrocalcinosis (NL/NC).

METHODS: This retrospective multicenter cross-sectional study was conducted on children ≤ 21 years old with NL/NC from pediatric nephrology/urology centers that underwent the Invitae Nephrolithiasis Panel 1/1/2019-9/30/2021. The diagnostic yield of the genetic panel was calculated. Bivariate and multiple logistic regression were performed to assess for predictors of positive genetic testing.

RESULTS: One hundred and thirteen children (83 NL, 30 NC) from 7 centers were …

Fixation Strategy Does Not Affect Risk Of Growth Disturbance After Surgical Treatment Of Pediatric Tibial Spine Fracture, Ryan O'Donnell, Nicholas J Lemme, Lauren Piana, Julien T Aoyama, Theodore J Ganley, Peter D Fabricant, Daniel W Green, Scott D Mckay, Gregory A Schmale, R Justin Mistovich, Soroush Baghdadi, Yi-Meng Yen, Henry B Ellis, Aristides I Cruz

Faculty, Staff and Students Publications

PURPOSE: To characterize growth abnormalities after surgical treatment of tibial spine fractures and to investigate risk factors for these abnormalities.

METHODS: A retrospective analysis of children who underwent treatment of tibial spine fractures between January 2000 and January 2019 was performed, drawing from a multicenter cohort among 10 tertiary care children's hospitals. The entire cohort of surgically treated tibial spine fractures was analyzed for incidence and risk factors of growth disturbance. The cohort was stratified into those who were younger than the age of 13 years at the time of treatment in order to evaluate the risk of growth disturbance …

Early Clinical Variables Associated With Refractory Convulsive Status Epilepticus In Children, Katrina Peariso, Ravindra Arya, Tracy Glauser, Nicholas S Abend, Cristina Barcia Aguilar, Marta Amengual-Gual, Anne Anderson, Brian L Appavu, J Nicholas Brenton, Jessica Carpenter, Kevin E Chapman, Justice Clark, William D Gaillard, Marina Gaínza-Lein, Joshua Goldstein, Howard Goodkin, Zachary Grinspan, Rejean M Guerriero, Paul S Horn, Linda Huh, Robert Kahoud, Sarah A Kelley, Eric H Kossoff, Kush Kapur, Yi-Chen Lai, B Oyinkan Marquis, Tiffani Mcdonough, Mohamad A Mikati, Lindsey Morgan, Edward Novotny, Adam P Ostendorf, Eric T Payne, Juan Piantino, James Riviello, Tristan Sands, Carl E Stafstrom, Robert C Tasker, Dmitry Tchapyjnikov, Alejandra Vasquez, Mark S Wainwright, Angus Wilfong, Korwyn Williams, Tobias Loddenkemper

Faculty, Staff and Students Publications

BACKGROUND AND OBJECTIVES: The objective of this study was to determine patient-specific factors known proximate to the presentation to emergency care associated with the development of refractory convulsive status epilepticus (RSE) in children.

METHODS: An observational case-control study was conducted comparing pediatric patients (1 month-21 years) with convulsive SE whose seizures stopped after benzodiazepine (BZD) and a single second-line antiseizure medication (ASM) (responsive established status epilepticus [rESE]) with patients requiring more than a BZD and a single second-line ASM to stop their seizures (RSE). These subpopulations were obtained from the pediatric Status Epilepticus Research Group study cohort. We explored clinical …

Interim Results From An Ongoing, Open-Label, Single-Arm Trial Of Odevixibat In Progressive Familial Intrahepatic Cholestasis, Richard J Thompson, Reha Artan, Ulrich Baumann, Pier Luigi Calvo, Piotr Czubkowski, Buket Dalgic, Lorenzo D'Antiga, Angelo Di Giorgio, Özlem Durmaz, Emmanuel Gonzalès, Tassos Grammatikopoulos, Girish Gupte, Winita Hardikar, Roderick H J Houwen, Binita M Kamath, Saul J Karpen, Florence Lacaille, Alain Lachaux, Elke Lainka, Kathleen M Loomes, Cara L Mack, Jan P Mattsson, Patrick Mckiernan, Quanhong Ni, Hasan Özen, Sanjay R Rajwal, Bertrand Roquelaure, Eyal Shteyer, Etienne Sokal, Ronald J Sokol, Nisreen Soufi, Ekkehard Sturm, Mary Elizabeth Tessier, Wendy L Van Der Woerd, Henkjan J Verkade, Jennifer M Vittorio, Terese Wallefors, Natalie Warholic, Qifeng Yu, Patrick Horn, Lise Kjems

Faculty, Staff and Students Publications

BACKGROUND & AIMS: PEDFIC 2, an ongoing, open-label, 72-week study, evaluates odevixibat, an ileal bile acid transporter inhibitor, in patients with progressive familial intrahepatic cholestasis.

METHODS: PEDFIC 2 enrolled and dosed 69 patients across two cohorts; all received odevixibat 120 μg/kg per day. Cohort 1 comprised children from PEDFIC 1, and cohort 2 comprised new patients (any age). We report data through 15 July 2020, with Week 24 of PEDFIC 2 the main time point analysed. This represents up to 48 weeks of cumulative exposure for patients treated with odevixibat from the 24-week PEDFIC 1 study (cohort 1A) and up …

Nonalcoholic Steatohepatitis-Related Hepatocellular Carcinoma: Pathogenesis And Treatment, Josep M Llovet, Catherine E Willoughby, Amit G Singal, Tim F Greten, Mathias Heikenwälder, Hashem B El-Serag, Richard S Finn, Scott L Friedman

Faculty, Staff and Students Publications

Nonalcoholic fatty liver disease (NAFLD), including its more severe manifestation, nonalcoholic steatohepatitis (NASH), has a global prevalence of 20-25% and is a major public health problem. Its incidence is increasing in parallel to the rise in obesity, diabetes and metabolic syndrome. Progression from NASH to NASH-related hepatocellular carcinoma (HCC) (~2% of cases per year) is influenced by many factors, including the tissue and immune microenvironment, germline mutations in PNPLA3, and the microbiome. NASH-HCC has unique molecular and immune traits compared with other aetiologies of HCC and is equally prevalent in men and women. Comorbidities associated with NASH, such as obesity …

Exploring Gastrointestinal Health In Mecp2 Duplication Syndrome, Davut Pehlivan, Muharrem Ak, Daniel G Glaze, Bernhard Suter, Kathleen J Motil

Faculty, Staff and Students Publications

BACKGROUND: MECP2 duplication syndrome (MDS) is a rare neurogenetic syndrome caused by duplications of MECP2 at the Xq28 region. Although constipation and gastrointestinal reflux are reported in MDS, a comprehensive characterization of gastrointestinal health has not been fully explored.

METHODS: We conducted a parent survey to explore the characteristics of gastrointestinal health in individuals with MDS using a secure online registry and compared differences in gastrointestinal symptoms between individuals with MDS and those with Rett syndrome (RTT).

KEY RESULTS: One hundred six surveys were analyzed. Symptoms commonly associated with constipation occurred in 72% to 89% of MDS individuals. Eleven percent …

Avocado Consumption And Markers Of Inflammation: Results From The Multi-Ethnic Study Of Atherosclerosis (Mesa), Feon W Cheng, Nikki A Ford, Alexis C Wood, Russell Tracy

Faculty, Staff and Students Publications

Purpose

Since avocado consumption has been linked to a possible reduction in inflammation, we investigated associations between avocado consumption and markers of inflammation in a population-based multi-ethnic cohort [Multi-Ethnic Study of Atherosclerosis (MESA)].

Methods

We used a food frequency questionnaire (FFQ) at MESA exam 1 to capture avocado/guacamole consumption. To calculate daily servings of avocado/guacamole, we used both frequency and serving size data from the FFQ. We classified participants into three consumer groups: rare or never (daily serving ≤ 0.03), medium (0.03 < daily serving < 0.1), and heavy (0.1 ≤ daily serving). Inflammation was estimated by natural log-transformed inflammatory biomarkers (CRP, IL-2, IL-6, homocysteine, fibrinogen, TNF-a soluble receptors). We used multivariate general linear regression models to assess associations accounting for age, sex, race/ethnicity, educational level, income, energy intake, smoking status, physical activity, diet quality, body mass index, and diabetes type.

Results

Among 5794 MESA participants, the average age and BMI were 62.25 y ± 10.26 and 28.28 ± …

An Initial Trial Of Opt-In-Early: An Online Training Program For Caregivers Of Autistic Children, Yael G Dai, Rebecca P Thomas, Lynn Brennan, My-Linh Luu, Jamie Hughes-Lika, Molly Reilly, Paula Moreno, Brenda Obe, Kelli B Ahmed, Leandra N Berry, Robin P Goin-Kochel, Molly S Helt, Marianne L Barton, Thyde Dumont-Mathieu, Diana L Robins, Deborah A Fein

Faculty, Staff and Students Publications

Early intervention can help children learn language and improve social communication. However, many barriers, including the expense of services and an insufficient number of providers, prohibit families from accessing services when their children are young. We developed a comprehensive online program for caregivers of autistic children. The program, Online Parent Training in Early Behavioral Intervention (OPT-In-Early), uses text and video demonstrations to teach caregivers effective methods for improving their children's language, social, and adaptive skills (e.g. using utensils, toilet training), and reducing their children's disruptive behavior. Sixty-three parents from three states participated in the study. Half of the parents received …

Pediatric Acute Liver Failure Secondary To Autoimmune Hepatitis In An Infant With Thrombocytopenia-Absent Radius (Tar) Syndrome: A Case Report, Rebecca Mercedes, Kalyani Patel, Henry Shiau, Krupa R Mysore, Wenly Ruan, Daniel H Leung, Mary Elizabeth M Tessier, Dana Cerminara, Sarah Nicholas, Kelby Fuller, Marielle Faraone, N Thao N Galvan, John Goss, Anna M Banc-Husu

Faculty, Staff and Students Publications

Thrombocytopenia absent radius (TAR) syndrome is a rare genetic disorder that has been associated with food protein-induced allergic proctocolitis and transient leukemoid reactions, among other manifestations. There has been no prior reports of its association with autoimmune disease, more specifically, autoimmune hepatitis (AIH) or the development of pediatric acute liver failure (PALF). We present a case of an 8-month-old infant with TAR syndrome who presented with PALF, secondary to AIH with elevated liver-kidney microsomal antibody (>1:2560). She received a liver transplant and had a very complicated postoperative course including severe T-cell-mediated rejection, infection, biliary stricture, persistently elevated liver-kidney microsomal …

Food For Thought: Remission Of Perianal Pediatric Crohn's Disease On Specific Carbohydrate Diet Monotherapy, David Simon, Kalyani Patel, Prakash Masand, Richard Kellermayer

Faculty, Staff and Students Publications

There is growing interest among patients about the specific carbohydrate diet (SCD) as a treatment for Crohn's disease. In the meantime, deep remission in patients using SCD as their sole treatment has not been documented. We report a case with perianal and ileocolonic Crohn's disease in whom SCD monotherapy successfully induced and maintained not only clinical, but also endoscopic, radiographic and histologic (ie, deep mucosal remission) remission as well.

The Sunbeam Birth Cohort: Protocol Design, Corinne Keet, Scott H Sicherer, Supinda Bunyavanich, Cynthia Visness, Patricia C Fulkerson, Alkis Togias, Wendy Davidson, Susan Perry, Sanaz Hamrah, Agustin Calatroni, Katina Robinson, Lars Dunaway, Carla M Davis, Sara Anvari, Susan M Leong-Kee, Gurjit Khurana Hershey, Emily Defranco, Ashley Devonshire, Haejin Kim, Christine Joseph, Brent Davidson, Noel K Strong, Angela J Tsuang, Marion Groetch, Julie Wang, Jennifer Dantzer, Kim Mudd, Abimbola Aina, Wayne Shreffler, Qian Yuan, Virginia Simmons, Donald Y M Leung, Jessica Hui-Beckman, Jania Arcia Ramos, Sharon Chinthrajah, Virginia Winn, Tina Sindher, Stacie M Jones, Nirvana A Manning, Amy M Scurlock, Edwin Kim, Alison Stuebe, James E Gern, Anne Marie Singh, Jennifer Krupp, Robert A Wood

Faculty, Staff and Students Publications

BACKGROUND: Food allergy (FA) and atopic dermatitis (AD) are common conditions that often present in the first year of life. Identification of underlying mechanisms and environmental determinants of FA and AD is essential to develop and implement effective prevention and treatment strategies. Objectives: We sought to describe the design of the Systems Biology of Early Atopy (SunBEAm) birth cohort.

METHODS: Funded by the National Institute of Allergy and Infectious Diseases (NIAID) and administered through the Consortium for Food Allergy Research (CoFAR), SunBEAm is a US population-based, multicenter birth cohort that enrolls pregnant mothers, fathers, and their newborns and follows them …

Psychometric Properties Of The Revised Children’S Anxiety And Depression Scale (Rcads) For Autistic Youth Without Co-Occurring Intellectual Disability, Nasim Khalfe, Amy R Goetz, Erika S Trent, Andrew G Guzick, Orri Smarason, Minjee Kook, Sean Olsen, Ana C Ramirez, Saira A Weinzimmer, Leandra Berry, Sophie C Schneider, Wayne K Goodman, Eric A Storch

Faculty, Staff and Students Publications

Autistic youth often present with comorbid anxiety and depression yet there is a dearth of validated assessment tools. The Revised Children’s Anxiety and Depression Scale (RCADS) assesses internalizing symptoms but there is little psychometric data in autistic youth. Treatment-seeking autistic youth with anxiety or obsessive-compulsive symptoms (N = 74; age 6–14 years), and caregivers, were administered the RCADS-Parent, RCADS-Child, and assessments of internalizing, externalizing symptoms and social impairment indicative of autism. RCADS-Parent and RCADS-Child total anxiety scores demonstrated excellent internal consistency, and the six subscales demonstrated acceptable-to-good internal consistency. The RCADS-Child and Parent total anxiety scores were weakly correlated, …

Racial Disparities In Mental Health Disorders In Youth With Chronic Medical Conditions, Vincent J Gonzalez, Rachel T Kimbro, John C Shabosky, Stefan Kostelyna, Titilope Fasipe, Natalie Villafranco, Katherine E Cutitta, Keila N Lopez

Faculty, Staff and Students Publications

OBJECTIVE: To evaluate the association between race/ethnicity, poverty, and mental health in youth with chronic conditions.

STUDY DESIGN: A cross-sectional comparative study was performed using the records of a tertiary care center from 2011 to 2015.

INCLUSION CRITERIA: children aged 4-17 years with ≥1 hospitalization or emergency department visit. Exclusion criteria were those with arrhythmias or treatment with clonidine/benzodiazepines. The primary outcome variable was diagnosis or medication for anxiety, depression, or attention deficit hyperactivity disorder. The primary predictor variable was diagnosis of cystic fibrosis (CF), sickle cell disease (SCD), or congenital heart disease (CHD).

RESULTS: We identified 112 313 patients, …

Twelve-Month Psychosocial Outcomes Of Continuous Glucose Monitoring With Behavioural Support In Parents Of Young Children With Type 1 Diabetes, Persis V Commissariat, Linda A Dimeglio, Lauren G Kanapka, Lori M Laffel, Kellee M Miller, Barbara J Anderson, Marisa E Hilliard

Faculty, Staff and Students Publications

AIM: Managing type 1 diabetes in young children can cause significant stress for parents. Continuous glucose monitoring (CGM) may reduce parental burden. The Strategies to Enhance CGM Use in Early Childhood (SENCE) trial randomized parents of children (ages 2 to <8 >years) with type 1 diabetes to CGM with family behavioural intervention (CGM + FBI), CGM alone (Standard-CGM) or blood glucose monitoring for 26 weeks before receiving CGM + FBI (BGM-Crossover). This report assesses changes in psychosocial outcomes for all groups over 52 weeks.

METHODS: CGM + FBI (n = 45), Standard-CGM (n = 42) and BGM-Crossover (n = 44) participants …

T-Cell Receptor Beta Variable Gene Polymorphism Predicts Immune-Related Adverse Events During Checkpoint Blockade Immunotherapy, Bettzy Stephen, Joud Hajjar, Shrutii Sarda, Dzifa Yawa Duose, Jeffrey M Conroy, Carl Morrison, Anas Alshawa, Mingxuan Xu, Abdulrazzak Zarifa, Sapna P Patel, Ying Yuan, Evan Kwiatkowski, Linghua Wang, Jordi Rodon Ahnert, Siqing Fu, Funda Meric-Bernstam, Geoffrey M Lowman, Timothy Looney, Aung Naing

Faculty, Staff and Students Publications

BACKGROUND: Immune checkpoint inhibitors have revolutionized cancer treatment. However, they are associated with a unique spectrum of side effects, called immune-related adverse events (irAEs), which can cause significant morbidity and quickly progress to severe or life-threatening events if not treated promptly. Identifying predictive biomarkers for irAEs before immunotherapy initiation is therefore a critical area of research. Polymorphisms within the T-cell receptor beta (TCRB) variable (TRBV) gene have been implicated in autoimmune disease and may be mechanistically linked to irAEs. However, the repetitive nature of the TCRB locus and incomplete genome assembly has hampered the evaluation of TRBV polymorphisms in the …

Seladelpar Efficacy And Safety At 3 Months In Patients With Primary Biliary Cholangitis: Enhance, A Phase 3, Randomized, Placebo-Controlled Study, Gideon M Hirschfield, Mitchell L Shiffman, Aliya Gulamhusein, Kris V Kowdley, John M Vierling, Cynthia Levy, Andreas E Kremer, Ehud Zigmond, Pietro Andreone, Stuart C Gordon, Christopher L Bowlus, Eric J Lawitz, Richard J Aspinall, Daniel S Pratt, Karina Raikhelson, Maria S Gonzalez-Huezo, Michael A Heneghan, Sook-Hyang Jeong, Alma L Ladrón De Guevara, Marlyn J Mayo, George N Dalekos, Joost P H Drenth, Ewa Janczewska, Barbara A Leggett, Frederik Nevens, Victor Vargas, Eli Zuckerman, Christophe Corpechot, Eduardo Fassio, Holger Hinrichsen, Pietro Invernizzi, Palak J Trivedi, Lisa Forman, David E J Jones, Stephen D Ryder, Mark G Swain, Alexandra Steinberg, Pol F Boudes, Yun-Jung Choi, Charles A Mcwherter, Enhance Study Group

Faculty, Staff and Students Publications

BACKGROUND AND AIMS: ENHANCE was a phase 3 study that evaluated efficacy and safety of seladelpar, a selective peroxisome proliferator-activated receptor-δ (PPAR) agonist, versus placebo in patients with primary biliary cholangitis with inadequate response or intolerance to ursodeoxycholic acid (UDCA).

APPROACH AND RESULTS: Patients were randomized 1:1:1 to oral seladelpar 5 mg (n=89), 10 mg (n=89), placebo (n=87) daily (with UDCA, as appropriate). Primary end point was a composite biochemical response [alkaline phosphatase (ALP) < 1.67×upper limit of normal (ULN), ≥15% ALP decrease from baseline, and total bilirubin ≤ ULN] at month 12. Key secondary end points were ALP normalization at month 12 and change in pruritus numerical rating scale (NRS) at month 6 in patients with baseline score ≥4. Aminotransferases were assessed. ENHANCE was terminated early following an erroneous safety signal in a concurrent, NASH trial. While blinded, primary and secondary efficacy end points were amended to month 3. Significantly more patients receiving seladelpar met the primary end point (seladelpar 5 mg: 57.1%, 10 mg: 78.2%) versus placebo (12.5%) ( p < 0.0001). ALP normalization occurred in 5.4% ( p =0.08) and 27.3% ( p < 0.0001) of patients receiving 5 and 10 mg seladelpar, respectively, versus 0% receiving placebo. Seladelpar 10 mg significantly reduced mean pruritus NRS versus placebo [10 mg: -3.14 ( p =0.02); placebo: -1.55]. Alanine aminotransferase decreased significantly with seladelpar versus placebo [5 mg: 23.4% ( p =0.0008); 10 mg: 16.7% ( p =0.03); placebo: 4%]. There were no serious treatment-related adverse events.

CONCLUSIONS: Patients with primary biliary cholangitis (PBC) with inadequate response or intolerance to UDCA who were treated with seladelpar 10 mg had significant improvements in liver …

Current Practices In Pediatric Continuous Kidney Replacement Therapy: A Systematic Review-Guided Multinational Modified Delphi Consensus Study, Dana Y Fuhrman, Katja M Gist, Ayse Akcan-Arikan

Faculty, Staff and Students Publications

BACKGROUND: Continuous kidney replacement therapy (CKRT) has become an integral part of the care of critically ill children. However, uncertainty exists regarding the current state of how CKRT is prescribed and delivered in children. The main objective of this study was to identify the current practices for pediatric CKRT.

METHODS: We conducted a systematic review of the literature from 2012 to 2022 to identify data regarding CKRT timing of initiation, dosing, anticoagulation, fluid removal, and quality monitoring. Using this data, we then performed a two-round modified Delphi process using a multinational internet-assisted survey of prescribers of CKRT.

RESULTS: The survey …

Worldwide Exploration Of Renal Replacement Outcomes Collaborative In Kidney Disease (We-Rock), Shina Menon, Kelli A Krallman, Ayse A Arikan, Dana Y Fuhrman, Stephen M Gorga, Theresa Mottes, Nicholas Ollberding, Zaccaria Ricci, Natalja L Stanski, David T Selewski, Danielle E Soranno, Michael Zappitelli, Huaiyu Zang, Katja M Gist

Faculty, Staff and Students Publications

INTRODUCTION: Continuous renal replacement therapy (CRRT) is used for the symptomatic management of acute kidney injury (AKI) and fluid overload (FO). Contemporary reports on pediatric CRRT are small and single center in design. Large international studies evaluating CRRT practice and outcomes are lacking. Herein, we describe the design of a multinational collaborative.

METHODS: The Worldwide Exploration of Renal Replacement Outcomes Collaborative in Kidney Disease (WE-ROCK) is an international collaborative of pediatric specialists whose mission is to improve short- and long-term outcomes of children treated with CRRT. The aims of this multicenter retrospective study are to describe the epidemiology, liberation patterns, …

Clinical And Laboratory Predictors Of Dehydration Severity In Children With Diabetic Ketoacidosis, Jennifer L Trainor, Nicole S Glaser, Leah Tzimenatos, Michael J Stoner, Kathleen M Brown, Julie K Mcmanemy, Jeffrey E Schunk, Kimberly S Quayle, Lise E Nigrovic, Arleta Rewers, Sage R Myers, Jonathan E Bennett, Maria Y Kwok, Cody S Olsen, T Charles Casper, Simona Ghetti, Nathan Kuppermann, Pediatric Emergency Care Applied Research Network (Pecarn) Fluid Study Group

Faculty, Staff and Students Publications

STUDY OBJECTIVE: Our primary objective was to characterize the degree of dehydration in children with diabetic ketoacidosis (DKA) and identify physical examination and biochemical factors associated with dehydration severity. Secondary objectives included describing relationships between dehydration severity and other clinical outcomes.

METHODS: In this cohort study, we analyzed data from 753 children with 811 episodes of DKA in the Pediatric Emergency Care Applied Research Network Fluid Therapies Under Investigation Study, a randomized clinical trial of fluid resuscitation protocols for children with DKA. We used multivariable regression analyses to identify physical examination and biochemical factors associated with dehydration severity, and we …

Variation In Early Anakinra Use And Short-Term Outcomes In Multisystem Inflammatory Syndrome In Children, Joyce C Chang, Cameron C Young, Eyal Muscal, Sara K Sexson Tejtel, Margaret M Newhams, Suden Kucukak, Hillary Crandall, Aline B Maddux, Courtney M Rowan, Natasha B Halasa, Helen A Harvey, Charlotte V Hobbs, Mark W Hall, Michele Kong, Cassyanne L Aguiar, Jennifer E Schuster, Julie C Fitzgerald, Aalok R Singh, Kari Wellnitz, Ryan A Nofziger, Natalie Z Cvijanovich, Elizabeth H Mack, Adam J Schwarz, Sabrina M Heidemann, Jane W Newburger, Laura D Zambrano, Angela P Campbell, Manish M Patel, Adrienne G Randolph, Mary Beth F Son, Overcoming Covid Investigators

Faculty, Staff and Students Publications

OBJECTIVE: Evidence regarding effectiveness of interleukin-1 receptor antagonism in multisystem inflammatory syndrome in children (MIS-C) is lacking. We characterized variation in initial treatment with anakinra and evaluated cardiovascular outcomes associated with adding anakinra to standard initial therapy.

METHODS: We conducted a retrospective cohort study of MIS-C cases in a US surveillance registry from November 2020 to December 2021. Day 0 was the first calendar day of immunomodulatory treatment. Factors associated with initial anakinra use (days 0-1) were identified. We compared cases in patients ages 2-20 years receiving intravenous immunoglobulin (IVIG) and glucocorticoids versus anakinra plus IVIG and/or glucocorticoids on days …

Recent Advances In The Treatment Of Complex Congenital Diaphragmatic Hernia-A Narrative Review, Kylie I Holden, Matthew T Harting

Faculty, Staff and Student Publications

BACKGROUND AND OBJECTIVE: Congenital diaphragmatic hernia (CDH) is an anomaly of the cardiopulmonary system maturation process that results from both a global embryopathy and concomitant mechanical compression of the cardiopulmonary system from the abdominal contents during fetal maturation. This results in pulmonary hypertension, pulmonary hypoplasia, and cardiac dysfunction, requiring intense critical care management. The patients with highest risk CDH are the most challenging, resource-intensive, and bear most of the mortality. Advances at the basic, translational, and clinical research levels are leading to novel therapies and management strategies for complex, high-risk CDH. Our objective is to review novel approaches in thinking …

Addressing Wounded Healers’ Burnout And Moral Distress: Starts And Ends With Integrity, Tessy A Thomas, Frank Daniel Davis, Satid Thammasitboon

Faculty, Staff and Students Publications

No abstract provided.

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 …

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' …

Pragmatic, Randomized, Blinded Trial To Shorten Pharmacologic Treatment Of Newborns With Neonatal Opioid Withdrawal Syndrome (Nows), Adam Czynski, Abbot Laptook, Abhik Das, Brian Smith, Alan Simon, Rachel Greenberg, Robert Annett, Jeannette Lee, Jessica Snowden, Claudia Pedroza, Barry Lester, Barry Eggleston, Drew Bremer, Elisabeth Mcgowan

Faculty, Staff and Student Publications

BACKGROUND: The incidence of maternal opioid use in the USA has increased substantially since 2000. As a consequence of opioid use during pregnancy, the incidence of neonatal opioid withdrawal syndrome (NOWS) has increased fivefold between 2002 and 2012. Pharmacological therapy is indicated when signs of NOWS cannot be controlled, and the objective of pharmacological therapy is to control NOWS signs. Once pharmacologic therapy has started, there is great variability in strategies to wean infants. An important rationale for studying weaning of pharmacological treatment for NOWS is that weaning represents the longest time interval of drug treatment. Stopping medications too early …

Adaptation And Formative Evaluation Of Online Decision Support To Implement Evidence-Based Strategies To Increase Hpv Vaccination Rates In Pediatric Clinics, Ross Shegog, Lara S Savas, Erica L Frost, Laura C Thormaehlen, Travis Teague, Jack Steffy, Catherine Mary Healy, Laura Aubree Shay, Sharice Preston, Sally W Vernon

Faculty, Staff and Student Publications

Human papilloma virus (HPV) vaccination rates remain below national goals in the United States despite the availability of evidence-based strategies to increase rates. The Adolescent Vaccination Program (AVP) is a multi-component intervention demonstrated to increase HPV vaccination rates in pediatric clinics through the implementation of six evidence-based strategies. The purpose of this study, conducted in Houston, Texas, from 2019-2021, was to adapt the AVP into an online decision support implementation tool for standalone use and to evaluate its feasibility for use in community clinics. Phase 1 (Adaptation) comprised clinic interviews (

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 …

Two Pediatric Cases Within A Familial Cluster And Hereditary Diffuse Gastric Carcinoma: A Tale Of 2 Sisters, Lacey Falgout, Lawrence L. Gensler

School of Medicine Faculty Publications

Hereditary diffuse gastric cancer is a familial form of poorly differentiated signet ring cell carcinoma (SRCC) caused by a mutation in the CDH1/E-cadherin gene-mediating cell adhesion. CDH1 mutations are inherited in an autosomal dominant fashion and exhibit a high level of penetrance. SRCC diagnosis is exceedingly rare in the pediatric population. We report a case of SRCC in 2 sisters (10 and 15 years) and their father (41 years).

An "All-Data-On-Hand" Deep Learning Model To Predict Hospitalization For Diabetic Ketoacidosis In Youth With Type 1 Diabetes: Development And Validation Study., David D. Williams, Diana Ferro, Colin Mullaney, Lydia Skrabonja, Mitchell Barnes, Susana R. Patton, Brent Lockee, Erin M. Tallon, Craig Vandervelden, Cintya Schweisberger, Sanjeev Mehta, Ryan Mcdonough, Marcus Lind, Leonard D'Avolio, Mark A. Clements

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Although prior research has identified multiple risk factors for diabetic ketoacidosis (DKA), clinicians continue to lack clinic-ready models to predict dangerous and costly episodes of DKA. We asked whether we could apply deep learning, specifically the use of a long short-term memory (LSTM) model, to accurately predict the 180-day risk of DKA-related hospitalization for youth with type 1 diabetes (T1D).

OBJECTIVE: We aimed to describe the development of an LSTM model to predict the 180-day risk of DKA-related hospitalization for youth with T1D.

METHODS: We used 17 consecutive calendar quarters of clinical data (January 10, 2016, to March 18, …