Pediatrics Commons^™

Effectiveness Of Pfizer-Biontech Mrna Vaccination Against Covid-19 Hospitalization Among Persons Aged 12-18 Years - United States, June-September 2021., Samantha M. Olson, Margaret M. Newhams, Natasha B. Halasa, Ashley M. Price, Julie A. Boom, Leila C. Sahni, Katherine Irby, Tracie C. Walker, Stephanie P. Schwartz, Pia S. Pannaraj, Aline B. Maddux, Tamara T. Bradford, Ryan A. Nofziger, Benjamin J. Boutselis, Melissa L. Cullimore, Elizabeth H. Mack, Jennifer E. Schuster, Shira J. Gertz, Natalie Z. Cvijanovich, Michele Kong, Melissa A. Cameron, Mary A. Staat, Emily R. Levy, Brandon M. Chatani, Kathleen Chiotos, Laura D. Zambrano, Angela P. Campbell, Manish M. Patel, Adrienne G. Randolph, Overcoming Covid-19 Investigators

Manuscripts, Articles, Book Chapters and Other Papers

Pfizer-BioNTech COVID-19 vaccine is authorized for use in children and adolescents aged 12-15 years and is licensed by the Food and Drug Administration (FDA) for persons aged ≥16 (1). A randomized placebo-controlled trial demonstrated an efficacy of 100% (95% confidence interval [CI] = 75.3%-100%) in preventing outpatient COVID-19 in persons aged 12-15 years (2); however, data among adolescents on vaccine effectiveness (VE) against COVID-19 in real-world settings are limited, especially among hospitalized patients. In early September 2021, U.S. pediatric COVID-19 hospitalizations reached the highest level during the pandemic (3,4). In a test-negative, case-control study at 19 pediatric hospitals in 16 …

Heterogeneity Of Magnitude, Allergen Immunodominance, And Cytokine Polarization Of Cockroach Allergen-Specific T Cell Responses In Allergic Sensitized Children., Ricardo Da Silva Antunes, Aaron Sutherland, April Frazier, Veronique Schulten, Anna Pomés, Jill Glesner, Agustin Calatroni, Matthew C Altman, Robert A Wood, George T O'Connor, Jacqueline A Pongracic, Gurjit K Khurana Hershey, Carolyn M Kercsmar, Rebecca S Gruchalla, Michelle Gill, Andrew H Liu, Edward Zoratti, Meyer Kattan, Paula J Busse, Leonard B Bacharier, Stephen J. Teach, Lisa M Wheatley, Alkis Togias, William W Busse, Daniel J Jackson, Alessandro Sette

Pediatrics Faculty Publications

Background: Characterization of allergic responses to cockroach (CR), a common aeroallergen associated with asthma, has focused mainly on IgE reactivity, but little is known about T cell responses, particularly in children. We conducted a functional evaluation of CR allergen-specific T cell reactivity in a cohort of CR allergic children with asthma.

Methods: Peripheral blood mononuclear cells (PBMCs) were obtained from 71 children, with mild-to-moderate asthma who were enrolled in a CR immunotherapy (IT) clinical trial, prior to treatment initiation. PBMC were stimulated with peptide pools derived from 11 CR allergens, and CD4+ T cell responses assessed by intracellular cytokine staining. …

Initial Laparotomy Versus Peritoneal Drainage In Extremely Low Birthweight Infants With Surgical Necrotizing Enterocolitis Or Isolated Intestinal Perforation: A Multicenter Randomized Clinical Trial, Martin L Blakely, Jon E Tyson, Kevin P Lally, Susan R Hintz, Barry Eggleston, David K Stevenson, Gail E Besner, Abhik Das, Robin K Ohls, William E Truog, Leif D Nelin, Brenda B Poindexter, Claudia Pedroza, Michele C Walsh, Barbara J Stoll, Rachel Geller, Kathleen A Kennedy, Reed A Dimmitt, Waldemar A Carlo, C Michael Cotten, Abbot R Laptook, Krisa P Van Meurs, Kara L Calkins, Gregory M Sokol, Pablo J Sanchez, Myra H Wyckoff, Ravi M Patel, Ivan D Frantz, Seetha Shankaran, Carl T D'Angio, Bradley A Yoder, Edward F Bell, Kristi L Watterberg, Colin A Martin, Carroll M Harmon, Henry Rice, Arlet G Kurkchubasche, Karl Sylvester, James C Y Dunn, Troy A Markel, Diana L Diesen, Amina M Bhatia, Alan Flake, Walter J Chwals, Rebeccah Brown, Kathryn D Bass, Shawn D St Peter, Christina M Shanti, Walter Pegoli, David Skarda, Joel Shilyansky, David G Lemon, Ricardo A Mosquera, Myriam Peralta-Carcelen, Ricki F Goldstein, Betty R Vohr, Isabell B Purdy, Abbey C Hines, Nathalie L Maitre, Roy J Heyne, Sara B Demauro, Elisabeth C Mcgowan, Kimberly Yolton, Howard W Kilbride, Girija Natarajan, Kelley Yost, Sarah Winter, Tarah T Colaizy, Matthew M Laughon, Satyanarayana Lakshminrusimha, Rosemary D Higgins, Eunice Kennedy Shriver National Institute Of Child Health And Human Development Neonatal Research Network

Faculty, Staff and Student Publications

OBJECTIVE: The aim of this study was to determine which initial surgical treatment results in the lowest rate of death or neurodevelopmental impairment (NDI) in premature infants with necrotizing enterocolitis (NEC) or isolated intestinal perforation (IP).

SUMMARY BACKGROUND DATA: The impact of initial laparotomy versus peritoneal drainage for NEC or IP on the rate of death or NDI in extremely low birth weight infants is unknown.

METHODS: We conducted the largest feasible randomized trial in 20 US centers, comparing initial laparotomy versus peritoneal drainage. The primary outcome was a composite of death or NDI at 18 to 22 months corrected …

Initial Laparotomy Versus Peritoneal Drainage In Extremely Low Birthweight Infants With Surgical Necrotizing Enterocolitis Or Isolated Intestinal Perforation: A Multicenter Randomized Clinical Trial, Martin L Blakely, Jon E Tyson, Kevin P Lally, Susan R Hintz, Barry Eggleston, David K Stevenson, Gail E Besner, Abhik Das, Robin K Ohls, William E Truog, Leif D Nelin, Brenda B Poindexter, Claudia Pedroza, Michele C Walsh, Barbara J Stoll, Rachel Geller, Kathleen A Kennedy, Reed A Dimmitt, Waldemar A Carlo, C Michael Cotten, Abbot R Laptook, Krisa P Van Meurs, Kara L Calkins, Gregory M Sokol, Pablo J Sanchez, Myra H Wyckoff, Ravi M Patel, Ivan D Frantz, Seetha Shankaran, Carl T D'Angio, Bradley A Yoder, Edward F Bell, Kristi L Watterberg, Colin A Martin, Carroll M Harmon, Henry Rice, Arlet G Kurkchubasche, Karl Sylvester, James C Y Dunn, Troy A Markel, Diana L Diesen, Amina M Bhatia, Alan Flake, Walter J Chwals, Rebeccah Brown, Kathryn D Bass, Shawn D St Peter, Christina M Shanti, Walter Pegoli, David Skarda, Joel Shilyansky, David G Lemon, Ricardo A Mosquera, Myriam Peralta-Carcelen, Ricki F Goldstein, Betty R Vohr, Isabell B Purdy, Abbey C Hines, Nathalie L Maitre, Roy J Heyne, Sara B Demauro, Elisabeth C Mcgowan, Kimberly Yolton, Howard W Kilbride, Girija Natarajan, Kelley Yost, Sarah Winter, Tarah T Colaizy, Matthew M Laughon, Satyanarayana Lakshminrusimha, Rosemary D Higgins, Eunice Kennedy Shriver National Institute Of Child Health And Human Development Neonatal Research Network

Faculty, Staff and Student Publications

OBJECTIVE: The aim of this study was to determine which initial surgical treatment results in the lowest rate of death or neurodevelopmental impairment (NDI) in premature infants with necrotizing enterocolitis (NEC) or isolated intestinal perforation (IP).

SUMMARY BACKGROUND DATA: The impact of initial laparotomy versus peritoneal drainage for NEC or IP on the rate of death or NDI in extremely low birth weight infants is unknown.

METHODS: We conducted the largest feasible randomized trial in 20 US centers, comparing initial laparotomy versus peritoneal drainage. The primary outcome was a composite of death or NDI at 18 to 22 months corrected …

Activation Of The Innate Immune System In Children With Irritable Bowel Syndrome Evidenced By Increased Fecal Human Β-Defensin-2, Robert J Shulman, Sridevi Devaraj, Margaret Heitkemper

Children’s Nutrition Research Center Staff Publications

Background & aims: The role of the innate immune system in functional gastrointestinal pain disorders is unclear. We investigated the role of β-defensin-2 and gut permeability in childhood irritable bowel syndrome (IBS) and functional abdominal pain (FAP) symptom generation.

Methods: Fecal β-defensin-2 (and in a subset, gut permeability) was measured in children with IBS (n = 116), FAP (n = 33), and healthy control (HC) children (n = 72). IBS and FAP patients were recruited from tertiary and primary care, and HCs were recruited from primary care.

Results: β-defensin-2 concentration was greater in children with IBS (P = .003) and …

Post-Concussion And Post-Traumatic Stress Symptoms After Pediatric Traumatic Brain Injury: Shared Vulnerability Factors?, Emily R Fisher, Janelle J Montroy, Gerardo Duque, Charles S Cox, Linda Ewing-Cobbs

Faculty, Staff and Student Publications

Following pediatric traumatic brain injury (TBI), post-concussion symptoms (PCS) and post-traumatic stress symptoms (PTSS) occur commonly; however, it is unknown to what degree they overlap. The study examined PCS and PTSS persisting 7 weeks after injury in children and adolescents ages 8-15 years with TBI (n = 89) or extracranial injury (EI; n = 40) after vehicle collisions. TBI was divided into mild, complicated-mild/moderate, and severe groups. Parents retrospectively rated children's pre-injury symptoms and behavior problems, and children completed self-report measures after injury. PCS and PTSS total scores were significantly correlated in TBI and EI groups, respectively, for child …

Multisite Pain Is Highly Prevalent In Children With Functional Abdominal Pain Disorders And Is Associated With Increased Morbidity, Bruno P Chumpitazi, Tonya M Palermo, John M Hollier, Mariella M Self, Danita Czyzewski, Erica M Weidler, Margaret Heitkemper, Robert J Shulman

Children’s Nutrition Research Center Staff Publications

Objectives: To characterize the types of multisite pain experienced by children with functional abdominal pain disorders (FAPDs) and to examine differences in psychosocial distress, functional disability, and health-related quality of life in children with multisite pain vs abdominal pain alone.

Study design: Cross-sectional study of children ages 7-17 years (n = 406) with pediatric Rome III FAPDs recruited from both primary and tertiary care between January 2009 and June 2018. Subjects completed 14-day pain and stool diaries, as well as validated questionnaires assessing abdominal and nonabdominal pain symptoms, anxiety, depression, functional disability, and health-related quality of life.

Results: In total, …

Cheyne-Stokes Respiration In A 17-Year-Old Boy Awaiting Heart Transplantation, Nooralam A Rai, Aliva De, Carin Lamm

The Texas Heart Institute Journal

Cheyne-Stokes respiration is a pattern of alternating central apnea and hyperpnea. It is well described in adults with congestive heart failure, but not in children.

We report the case of a 17-year-old boy whose systolic heart failure was complicated by Cheyne-Stokes respiration. He was given supportive therapy until heart transplant, after which his Cheyne-Stokes respiration clinically resolved. Clinicians should be aware of this uncommon condition in pediatric and adolescent patients who have advanced heart failure and irregular breathing.

Mortality In Children Treated With Maintenance Peritoneal Dialysis: Findings From The International Pediatric Peritoneal Dialysis Network Registry., Sophie Ploos Van Amstel, Marlies Noordzij, Dagmara Borzych-Duzalka, Nicholas C. Chesnaye, Hong Xu, Lesley Rees, Il-Soo Ha, Zenaida L. Antonio, Nakysa Hooman, William Wong, Karel Vondrak, Yok Chin Yap, Hiren Patel, Maria Szczepanska, Sara Testa, Monica Galanti, Jameela A. Kari, Charlotte Samaille, Sevcan A. Bakkaloglu, Wai-Ming Lai, Luisa Fernanda Rojas, Mabel Sandoval Diaz, Biswanath Basu, Alicia Neu, Bradley A. Warady, Kitty J. Jager, Franz Schaefer

Manuscripts, Articles, Book Chapters and Other Papers

RATIONALE & OBJECTIVE: Research on pediatric kidney replacement therapy (KRT) has primarily focused on Europe and North America. In this study, we describe the mortality risk of children treated with maintenance peritoneal dialysis (MPD) in different parts of the world and characterize the associated demographic and macroeconomic factors.

STUDY DESIGN: Prospective cohort study.

SETTING & PARTICIPANTS: Patients younger than 19 years at inclusion into the International Pediatric Peritoneal Dialysis Network registry, who initiated MPD between 1996 and 2017.

EXPOSURE: Region as primary exposure (Asia, Western Europe, Eastern Europe, Latin America, North America, and Oceania). Other demographic, clinical, and macroeconomic (4 …

Atypical Idiopathic Intracranial Hypertension Presenting As Cyclic Vomiting Syndrome: A Case Report, Nafee T Talukder, Amanda H Clorfeine, Moira K Black, Shade B Moody

Faculty, Staff and Student Publications

BACKGROUND: Idiopathic intracranial hypertension is a disorder of increased intracranial pressure in the absence of cerebrospinal outflow obstruction, mass lesion, or other underlying cause. It is a rare phenomenon in prepubertal children and is most typically found in women of childbearing age. The classic presentation consists of headaches, nausea, vomiting, and visual changes; however, children present more atypically. We report a case of idiopathic intracranial hypertension in an otherwise healthy, 4-year-old child with atypical symptoms resembling those of cyclic vomiting syndrome.

CASE PRESENTATION: A 4-year-old Caucasian, otherwise healthy, male child presented to our emergency department with episodic intermittent early-morning vomiting …

Simple Energy Balance Or Microbiome For Childhood Obesity Prevention?, Tom Baranowski, Kathleen J Motil

Children’s Nutrition Research Center Staff Publications

Obesity prevention interventions generally have either not worked or had effects inadequate to mitigate the problem. They have been predicated on the simple energy balance model, which has been severely questioned by biological scientists. Numerous other etiological mechanisms have been proposed, including the intestinal microbiome, which has been related to childhood obesity in numerous ways. Public health research is needed in regard to diet and the microbiome, which hopefully will lead to effective child obesity prevention.

Family-Based Obesity Prevention Interventions Among Hispanic Children And Families: A Scoping Review, Erica G Soltero, Armando Peña, Veronica Gonzalez, Edith Hernandez, Guisela Mackey, Chishinga Callender, Jayna M Dave, Debbe Thompson

Children’s Nutrition Research Center Staff Publications

This scoping review examined intervention and sample characteristics of family-based obesity prevention interventions among Hispanic youth. This review also examined the degree to which existing interventions were culturally-adapted, acknowledged social determinants of health (SDoH), and collaborated with community stakeholders. A comprehensive search across Medline Ovid, Embase, Scopus, PsycInfo, and Pubmed was used to identify 13 studies primarily based in the U.S. (92.3%). Data was extracted by two independent reviewers. Most used a randomized control trial design (69.2%), a behavior change theory (84.6%), and reported moderate to high (≥70%) retention (69.2%). Studies targeted improvements in physical activity (69.2%) and fruit and …

Therapeutic Efficacy Of A Potent Anti-Venezuelan Equine Encephalitis Virus Antibody Is Contingent On Fc Effector Function, Vanja Krneta-Stankic, Mark E Corkins, Adriana Paulucci-Holthauzen, Malgorzata Kloc, Andrew B Gladden, Rachel K Miller

Faculty, Staff and Student Publications

E-cadherin junctions facilitate assembly and disassembly of cell contacts that drive development and homeostasis of epithelial tissues. In this study, using Xenopus embryonic kidney and Madin-Darby canine kidney (MDCK) cells, we investigate the role of the Wnt/planar cell polarity (PCP) formin Daam1 (Dishevelled-associated activator of morphogenesis 1) in regulating E-cadherin-based intercellular adhesion. Using live imaging, we show that Daam1 localizes to newly formed cell contacts in the developing nephron. Furthermore, analyses of junctional filamentous actin (F-actin) upon Daam1 depletion indicate decreased microfilament localization and slowed turnover. We also show that Daam1 is necessary for efficient and timely localization of junctional …

Associations Between Screen-Based Activities, Physical Activity, And Dietary Habits In Mexican Schoolchildren, Erica G Soltero, Alejandra Jáuregui, Edith Hernandez, Simón Barquera, Edtna Jáuregui, Juan Ricardo López-Taylor, Luis Ortiz-Hernández, Lucie Lévesque, Rebecca E Lee

Children’s Nutrition Research Center Staff Publications

Screen-based activities are associated with increased risk of obesity and contribute to physical inactivity and poor dietary habits. The primary aim of this study was to examine the associations among screen-based activities, physical activity, and dietary habits in school-aged children in Guadalajara, Puerto Vallarta, and Mexico City, Mexico. The secondary aim was to examine these associations across sex. The School Physical Activity and Nutrition survey was used to assess screen-based activities (TV watching, video game use, computer use), physical activity, and dietary habits. Organized activity/sports participation, unhealthy dietary habits, and household income were correlated with screen-based activities. While TV watching …

Integrated Omics Endotyping Of Infants With Respiratory Syncytial Virus Bronchiolitis And Risk Of Childhood Asthma., Yoshihiko Raita, Marcos Pérez-Losada, Robert J. Freishtat, Brennan Harmon, Jonathan M Mansbach, Pedro A Piedra, Zhaozhong Zhu, Carlos A Camargo, Kohei Hasegawa

Pediatrics Faculty Publications

Respiratory syncytial virus (RSV) bronchiolitis is not only the leading cause of hospitalization in U.S. infants, but also a major risk factor for asthma development. While emerging evidence suggests clinical heterogeneity within RSV bronchiolitis, little is known about its biologically-distinct endotypes. Here, we integrated clinical, virus, airway microbiome (species-level), transcriptome, and metabolome data of 221 infants hospitalized with RSV bronchiolitis in a multicentre prospective cohort study. We identified four biologically- and clinically-meaningful endotypes: A) clinical

Clinical Characterization Of Pediatric Gastroparesis Using A Four-Hour Gastric Emptying Scintigraphy Standard, Sharon Wolfson, Zoe Wilhelm, Antone R Opekun, Robert Orth, Robert J Shulman, Bruno P Chumpitazi

Children’s Nutrition Research Center Staff Publications

Objectives: Four-hour gastric emptying scintigraphy (GES) is the recommended method to identify both adult and childhood gastroparesis (GP). Previous pediatric studies have, however, not used this standard. We sought to determine the characteristics and outcomes of children versus adolescents with GP using the 4-hour GES evaluation.

Methods: We performed a retrospective chart review of pediatric patients diagnosed with GP by 4-hour GES (>10% retention at 4 hours). Demographics, body mass index, GP-related symptoms, comorbidities, etiologies, therapies (eg, medications), healthcare utilization, and response to therapy were captured systematically. Symptoms were compared from the initial versus last gastroenterology visit. Outcomes were …

Consumption Of High-Fructose Corn Syrup Compared With Sucrose Promotes Adiposity And Increased Triglyceridemia But Comparable Nafld Severity In Juvenile Iberian Pigs, Magdalena Maj, Brooke Harbottle, Payton A Thomas, Gabriella V Hernandez, Victoria A Smith, Mark S Edwards, Rob K Fanter, Hunter S Glanz, Chad Immoos, Douglas G Burrin, Tasha M Santiago-Rodriguez, Michael R La Frano, Rodrigo Manjarín

Children’s Nutrition Research Center Staff Publications

Background: Fructose consumption has been linked to nonalcoholic fatty liver disease (NAFLD) in children. However, the effect of high-fructose corn syrup (HFCS) compared with sucrose in pediatric NAFLD has not been investigated.

Objectives: We tested whether the isocaloric substitution of dietary sucrose by HFCS would increase the severity of NAFLD in juvenile pigs, and whether this effect would be associated with changes in gut histology, SCFA production, and microbial diversity.

Methods: Iberian pigs, 53-d-old and pair-housed in pens balanced for weight and sex, were randomly assigned to receive a mash diet top-dressed with increasing amounts of sucrose (SUC; n = …

Prospective Patient-Reported Symptom Profiles Associated With Pediatric Acute Lymphoblastic Leukemia Relapse, Austin L Brown, Kimberly P Raghubar, Olga A Taylor, Melanie Brooke Bernhardt, Lisa S Kahalley, Wei Pan, Philip J Lupo, Marilyn J Hockenberry, Michael E Scheurer

Faculty, Staff and Students Publications

PURPOSE: Despite improvements in frontline pediatric acute lymphoblastic leukemia (ALL) treatment, relapse remains a concern. Research in adult cancer patients suggests that patient-reported symptoms may predict survival, but the relationship between symptoms and relapse for pediatric ALL has received little attention.

METHODS: Pediatric patients with ALL (age 2-18 years) and/or their primary caregivers completed symptom surveys at the end of induction, start of delayed intensification (DI), start of maintenance cycle 1 (MC1), and start of maintenance cycle 2 (MC2). Symptom clusters for co-occurring fatigue, pain, sleep disruptions, and nausea were defined using latent profile analysis. Hazard ratios (HR) and 95% …

Meal-Induced Symptoms In Children With Dyspepsia-Relationships To Sex And The Presence Of Gastroparesis, Liz Febo-Rodriguez, Bruno P Chumpitazi, Salma Musaad, Andrew C Sher, Robert J Shulman

Children’s Nutrition Research Center Staff Publications

Objectives: To test the hypothesis that in children with dyspepsia, prospective symptom severity following ingestion of a meal would correlate with percent gastric retention, and those ultimately diagnosed with gastroparesis would report worse symptoms.

Study design: Prospective, single-center study with 104 children with dyspepsia completing a prospective dyspepsia symptom questionnaire before and after eating a standardized Tougas meal during gastric emptying scintigraphy. Main outcomes included correlation between gastric retention and symptoms and comparison of symptom severity between those with and without gastroparesis.

Results: Fifty-two children (50%) had gastroparesis (gastroparesis: 12.5 ± 2.9 years, 65% female; nongastroparesis: 13.0 ± 2.9 years, …

In Vivo Transplantation Of Human Intestinal Organoids Enhances Select Tight Junction Gene Expression, Mariaelena A Boyle, David J Sequeira, Eoin P Mcneill, Zachary K Criss, Noah F Shroyer, Allison L Speer

Faculty, Staff and Student Publications

BACKGROUND: Short bowel syndrome is a potentially fatal condition with inadequate management options. Tissue-engineered small intestine (TESI) is a promising solution, but confirmation of TESI function will be crucial before human application. We sought to define intestinal epithelial barrier function in human intestinal organoid (HIO)-derived TESI.

MATERIALS AND METHODS: HIOs were generated in vitro from human embryonic stem cells. After 1 mo, HIOs were collected for analysis or transplanted into the kidney capsule of immunocompromised mice. Transplanted HIOs (tHIOs) were harvested for analysis at 4 or 8 wk. Reverse transcription quantitative polymerase chain reaction and immunofluorescent staining were performed for …

Tbx5-Encoded T-Box Transcription Factor 5 Variant T223m Is Associated With Long Qt Syndrome And Pediatric Sudden Cardiac Death, Alexandra M Markunas, Perathu K R Manivannan, Jordan E Ezekian, Agnim Agarwal, William Eisner, Katherina Alsina, Hugh D Allen, Gregory A Wray, Jeffrey J Kim, Xander H T Wehrens, Andrew P Landstrom

Faculty, Staff and Students Publications

Long QT syndrome (LQTS) is a genetic disease resulting in a prolonged QT interval on a resting electrocardiogram, predisposing affected individuals to polymorphic ventricular tachycardia and sudden death. Although a number of genes have been implicated in this disease, nearly one in four individuals exhibiting the LQTS phenotype are genotype-negative. Whole-exome sequencing identified a missense T223M variant in TBX5 that cosegregates with prolonged QT interval in a family with otherwise genotype-negative LQTS and sudden death. The TBX5-T223M variant was absent among large ostensibly healthy populations (gnomAD) and predicted to be pathogenic by in silico modeling based on Panther, PolyPhen-2, Provean, …

Defining The Genotypic And Phenotypic Spectrum Of X-Linked Msl3-Related Disorder, Theresa Brunet, Kirsty Mcwalter, Katharina Mayerhanser, Grace M Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P Bupp, Bert L Callewaert, Anna Cereda, Margot A Cousin, Juan C Del Rey Jimenez, Laurie Demmer, Nikita R Dsouza, Nicole Fleischer, Ralitza H Gavrilova, Sumedha Ghate, Elisabeth Graf, Andrew Green, Sarah R Green, Maria Iascone, Ameni Kdissa, Dirk Klee, Eric W Klee, Emily Lancaster, Kristin Lindstrom, Johannes A Mayr, Meriel Mcentagart, Naomi J L Meeks, Dana Mittag, Harrison Moore, Anne K Olsen, Damara Ortiz, Gretchen Parsons, Loren D M Pena, Richard E Person, Sumit Punj, Gonzalo Alonso Ramos-Rivera, Maria J Guillen Sacoto, G Bradley Schaefer, Rhonda E Schnur, Tiana M Scott, Daryl A Scott, Carolyn R Serbinski, Vandana Shashi, Victoria Mok Siu, Barbro Fossøy Stadheim, Jennifer A Sullivan, Jana Švantnerová, Lea Velsher, David S Wargowski, Ingrid M Wentzensen, Dagmar Wieczorek, Juliane Winkelmann, Patrick Yap, Michael Zech, Michael T Zimmermann, Thomas Meitinger, Felix Distelmaier, Matias Wagner

Paediatrics Publications

PURPOSE: We sought to delineate the genotypic and phenotypic spectrum of female and male individuals with X-linked, MSL3-related disorder (Basilicata-Akhtar syndrome).

METHODS: Twenty-five individuals (15 males, 10 females) with causative variants in MSL3 were ascertained through exome or genome sequencing at ten different sequencing centers.

RESULTS: We identified multiple variant types in MSL3 (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, one multi-exon deletion), most proven to be de novo, and clustering in the terminal eight exons suggesting that truncating variants in the first five exons might be compensated by an alternative MSL3 transcript. Three-dimensional modeling of …

Predictability Of Transcutaneous Bilirubinometry In Late Preterm And Term Infants At Risk For Pathological Hyperbilirubinemia., Ekaterina Dianova Md, J Fogel, R P Verma

Other Specialties

BACKGROUND: The aim was to assess the predictability of transcutaneous bilirubinometry in late preterm and term neonates at risk for pathological hyperbilirubinemia, and to identify the neonatal population in which transcutaneous bilirubin most accurately predicts serum bilirubin level (SB, mg/dl).

METHODS: The correlations between transcutaneous bilirubin (TCB, mg/dl) and SB in different neonatal population subsets; and between ΔTSB (TCB-SB) and relevant neonatal variables and clinical groups were analyzed.

RESULTS: TCB correlated with SB (r = 0.82, p < 0.05) in the cohort (n = 350) and in population subsets (r = 0.81-0.9, p < 0.001). Black infants with gestational age (GA) >35 weeks and chronological age (CA) >3 days recorded strongest correlation (r = 0.9, p < 0.001) followed by Blacks, and non-Black infants with CA >3 days and GA >35 weeks. ΔTSB was …

Gut Microbiota Profiles Of Young South Indian Children: Child Sex-Specific Relations With Growth, Nirupama Shivakumar, Ambily Sivadas, Sarita Devi, Farook Jahoor, John Mclaughlin, Craig P Smith, Anura V Kurpad, Arpita Mukhopadhyay

Children’s Nutrition Research Center Staff Publications

Gut microbiota has been implicated as a modifier of childhood growth. Here, 16S rRNA sequencing-based fecal microbiota profiles of 18-24 month old Indian children were evaluated (n = 41), in relation to their anthropometric parameters, intestinal permeability, body composition and total energy expenditure. Pathway analyses were conducted to assess microbial functions related to stunting, underweight and wasting. The fecal microbiota was enriched in Prevotella 9, Bifidobacterium and Escherichia-Shigella. Weight, weight-for-age Z-scores (WAZ) and weight-for-length Z-scores (WLZ), along with age, acted as covariates of microbiota variation specifically in boys (n = 23). Bifidobacterium longum subsp longum abundance was positively associated with …

Correlation Between Concentrations Of Four Heavy Metals In Cord Blood And Childhood Blood Of Jamaican Children, Mohammad H Rahbar, Maureen Samms-Vaughan, Manouchehr Hessabi, Jan Bressler, Shezeen Gillani, Megan L Grove, Sydonnie Shakspeare-Pellington, Katherine A Loveland

Faculty, Staff and Student Publications

This study investigated whether the concentrations of four metals [lead (Pb), mercury (Hg), manganese (Mn), and aluminum (Al)] are correlated in cord blood and childhood blood samples from Jamaican children. Cord blood samples were obtained from 21 pregnant women enrolled in the second Jamaican Birth Cohort Study from July 1, 2011 to September 30, 2011, and blood samples were drawn from their children who participated in a follow up study when the children were 4–8 years old. Correlations were assessed by the Pearson or the Spearman’s rank correlation coefficient. The mean ages of children at the childhood visit and their …

Pediatric Thalassemic Patients Have Higher Incidence Of Asthma: A Nationwide Population-Based Retrospective Cohort Study, Hsin-Yi Hsieh, Lin-Chi Huang, Hong-Ren Yu, Kuang-Che Kuo, Wan-Hsuan Chen, Chung-Hao Su, Chuan-Pin Lee, Ko-Jung Chen, Yao-Hsu Yang, Jiunn-Ming Sheen

Faculty, Staff and Student Publications

INTRODUCTION: Patients with hemoglobinopathies have been reported to have higher rates of pulmonary complications. Few studies have investigated the association between thalassemia and asthma in children.

METHODS: We used the data of one million individuals randomly selected from the Registry for Beneficiaries of the National Health Insurance Research Database. One thalassemic child was matched with four control children without thalassemia according to sex, birth year, birth season, prematurity, and previous enteroviral infection.

RESULTS: A total of 800 hundred thalassemic children and 3200 controls were included. Children with thalassemia had higher rates of developing asthma (41.81 vs 25.70 per 1000 person-years, …

Nonsuicidal Self-Injury, Suicide Planning, And Suicide Attempt Among High-Risk Adolescents Prior To Psychiatric Hospitalization, Christina M. Sellers, Antonia Díaz-Valdés, Andrew C. Porter, Catherine R. Glenn, Adam Bryant Miller, Adeline Wyman Battalen, Kimberly H. Mcmanama O'Brien

Psychology Faculty Publications

The purpose of this study was to understand the trajectories of nonsuicidal self-injury (NSSI) and suicide plans (SP) in the 90 days prior to inpatient hospitalization, understand the role of NSSI and SP in predicting suicide attempts (SA) on a given day, and to test the interaction between NSSI and SP in predicting same-day SA. Participants included 69 adolescents (77% female, 65% white, 77% Non-Hispanic/Latinx, Mage = 15.77 SDage = 1.00) from an inpatient psychiatric unit. Past 90 day NSSI, SP, and SA were measured using the Columbia Suicide Severity Rating Scale and Timeline Follow Back. First, mixed effect models …

Epilepsy Risk Prediction Model For Patients With Tuberous Sclerosis Complex, Laura S Farach, Melissa A Richard, Philip J Lupo, Mustafa Sahin, Darcy A Krueger, Joyce Y Wu, Elizabeth M Bebin, Kit Sing Au, Hope Northrup, Tacern Study Group

Faculty, Staff and Student Publications

BACKGROUND: Individuals with tuberous sclerosis complex are at increased risk of epilepsy. Early seizure control improves developmental outcomes, making identifying at-risk patients critically important. Despite several identified risk factors, it remains difficult to predict. The purpose of the study was to evaluate the combined risk prediction of previously identified risk factors for epilepsy in individuals with tuberous sclerosis complex.

METHODS: The study group (n = 333) consisted of individuals with tuberous sclerosis complex who were enrolled in the Tuberous Sclerosis Complex Autism Center of Excellence Research Network and UT TSC Biobank. The outcome was defined as having an epilepsy diagnosis. …

Severe Acute Respiratory Syndrome Coronavirus 2 Infections In Children: Multicenter Surveillance, United States, January-March 2020., Brian Rha, Joana Y. Lively, Janet A. Englund, Mary A. Staat, Geoffrey A. Weinberg, Rangaraj Selvarangan, Natasha B. Halasa, John V. Williams, Julie A. Boom, Leila C. Sahni, Marian G. Michaels, Laura S. Stewart, Christopher J. Harrison, Peter G. Szilagyi, Monica M. Mcneal, Eileen J. Klein, Bonnie Strelitz, Kirsten Lacombe, Elizabeth Schlaudecker, Mary Moffatt, Jennifer E. Schuster, Barbara A. Pahud, Gina Weddle, Robert W. Hickey, Vasanthi Avadhanula, Mary E. Wikswo, Aron J. Hall, Aaron T. Curns, Susan I. Gerber, Gayle Langley

Manuscripts, Articles, Book Chapters and Other Papers

Previous reports of coronavirus disease 2019 among children in the United States have been based on health jurisdiction reporting. We performed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) testing on children enrolled in active, prospective, multicenter surveillance during January-March 2020. Among 3187 children, only 4 (0.1%) SARS-CoV-2-positive cases were identified March 20-31 despite evidence of rising community circulation.

A Novel Sting1 Variant Causes A Recessive Form Of Sting-Associated Vasculopathy With Onset In Infancy (Savi)., Bin Lin, Roberta Berard, Abdulrahman Al Rasheed, Buthaina Aladba, Philip J Kranzusch, Maggie Henderlight, Alexi Grom, Dana Kahle, Sofia Torreggiani, Alexander G Aue, Jacob Mitchell, Adriana A De Jesus, Grant S Schulert, Raphaela Goldbach-Mansky

Paediatrics Publications

No abstract provided.