Pediatrics Commons^™

Congenital Diaphragmatic Hernia And Cleft Lip And Palate: Looking For A Common Genetic Etiology, Petra Nord, Ashley H Ebanks, Petra Peterson, Erik Iwarsson, Matthew T Harting, Carmen Mesas Burgos

Faculty, Staff and Student Publications

Purpose: Congenital diaphragmatic hernia (CDH) and cleft lip and/or palate (CL/P) are inborn closure defects. Genetic factors in and outcomes for patients with both anomalies (CDH+CL/P) remain unclear. We aimed to investigate associated genetic aberrations, prevalence of, and outcomes for, CDH+CL/P.

Methods: Data from Congenital Diaphragmatic Hernia Study Group (CDHSG) registry were collected. CL/P prevalence in CDH patients was determined. Genetic abnormalities and additional malformations in CDH+CL/P were explored. Patient characteristics and outcomes were compared between CDH+CL/P and isolated CDH (CDH-) using Fisher's Exact Test for categorical, and t-test or Mann-Whitney U-test for continuous, data. p < 0.05 was considered statistically significant.

Results: Genetic anomalies in …

Substance Use Emergency Department Visits Among Youths With Chronic Conditions During Covid-19., Faith Summersett Williams, Isabella Zaniletti, Abbey R. Masonbrink, Robert Garofalo, Maria Rahmandar, Niranjan S. Karnik, Geri Donenberg, Lisa Kuhns

Manuscripts, Articles, Book Chapters and Other Papers

IMPORTANCE: Pediatric emergency department (ED) visits for substance use (SU) increased during COVID-19. Better understanding of trends associated with SU ED visits among youths with a chronic medical condition (CMC) is needed to target SU screening, prevention, and intervention efforts in this population.

OBJECTIVE: To describe trends in pediatric SU ED visits before and during COVID-19 among youths in the US with and without CMCs and by race and ethnicity.

DESIGN, SETTING, AND PARTICIPANTS: In this cohort study, data were obtained from 47 US children's hospital EDs in the Pediatric Health Information System (PHIS) between March 1, 2018, and March …

Update On Recommendations For Surveillance For Children With Predisposition To Hematopoietic Malignancy, Luke D Maese, Marcin W Wlodarski, Sun Young Kim, Alison A Bertuch, Gaelle Bougeard, Vivian Y Chang, Lucy A Godley, Payal P Khincha, Roland P Kuiper, Harry Lesmana, Rose B Mcgee, Lisa J Mcreynolds, Julia Meade, Sharon E Plon, Sharon A Savage, Sarah R Scollon, Hamish S Scott, Michael F Walsh, Kim E Nichols, Christopher C Porter

Center for Medical Ethics and Health Policy Staff Publications

Children harboring certain germline gene variants have an increased risk of developing myelodysplastic syndrome (MDS) and other hematopoietic malignancies (HM), such as leukemias and lymphomas. Recent studies have identified an expanding number of these predisposition genes, with variants most prevalent in children with MDS but also found in children with other HM. For some hematopoietic malignancy predispositions (HMP), specifically those with a high risk of MDS, early intervention through hematopoietic stem cell transplantation can favorably impact overall survival, providing a rationale for rigorous surveillance. A multidisciplinary panel of experts at the 2023 AACR Childhood Cancer Predisposition Workshop reviewed the latest …

Sex Differences In Metabolic Adaptation In Infants With Cyanotic Congenital Heart Disease, Tina O Findley, Ana Carolina Palei, Kyung Serk Cho, Zhongming Zhao, Caleb Shi, Gouri Mahajan, Antonio Francesco Corno, Jorge Salazar, Louise Mccullough

Faculty, Staff and Student Publications

BACKGROUND: Female infants with congenital heart disease (CHD) face significantly higher postoperative mortality rates after adjusting for cardiac complexity. Sex differences in metabolic adaptation to cardiac stressors may be an early contributor to cardiac dysfunction. In adult diseases, hypoxic/ischemic cardiomyocytes undergo a cardioprotective metabolic shift from oxidative phosphorylation to glycolysis which appears to be regulated in a sexually dimorphic manner. We hypothesize sex differences in cardiac metabolism are present in cyanotic CHD and detectable as early as the infant period.

METHODS: RNA sequencing was performed on blood samples (cyanotic CHD cases, n = 11; controls, n = 11) and analyzed …

Diagnostic Overshadowing: A Delayed Diagnosis Of Autism Spectrum Disorder In A Deaf Child, Quynh-Chi Dang, Michael Hoffman, Rachel St. John

Journal of Early Hearing Detection and Intervention

Diagnostic overshadowing occurs when a patient with a pre-existing diagnosis presents with symptoms that are attributed to the diagnosis, but actually reflect a separate issue. This diagnostic overshadowing can lead to delays in diagnosis, as well as disparities in health care and outcomes. The following case will provide an example in which diagnostic overshadowing contributed to the delay of an autism diagnosis in a child who is deaf. With at least 40 to 50% of children who are deaf or hard of hearing having at least one co-existing medical/developmental condition, and the current prevalence of autism at 1 in 36 …

Urinary Tract Infection Caused By Gardnerella Vaginalis In A 6 Week Old Infant, Rhythm Sharma, Malika Goel, Ruba Barbar

Conference Presentation Abstracts

Introduction: Gardnerella vaginalis is a frequent cause of bacterial vaginosis (BV) in adults. However, G. vaginalis infection is infrequent in infants. Only a few cases of G. vaginalis UTI have been reported so far in infants and none in the United States.

Case Description: A 6-week-old female, ex full-term at 39 3/7 weeks via vaginal delivery with no significant postnatal medical history, presented with a 2-day history of fever, mild cough, and congestion.

In the emergency department, the patient was febrile to 38.1°C, pulse 139 beats/minute, respiratory rate 34 breaths/minute, and SpO2 98% on room air. She was active and …

Understanding Necrotizing Enterocolitis Endotypes And Acquired Intestinal Injury Phenotypes From A Historical And Artificial Intelligence Perspective., Alain Cuna, Navin Kumar, Venkatesh Sampath

Manuscripts, Articles, Book Chapters and Other Papers

Necrotizing enterocolitis (NEC) remains a devastating disease in preterm and term neonates. Despite significant progress made in understanding NEC pathogenesis over the last 50 years, the inability of current definitions to discriminate the various pathophysiological processes underlying NEC has led to an umbrella term that limits clinical and research progress. In this mini review, we provide a historical perspective on how NEC definitions and pathogenesis have evolved to our current understanding of NEC endotypes. We also discuss how artificial intelligence-based approaches are influencing our knowledge of risk-factors, classification and prognosis of NEC and other neonatal intestinal injury phenotypes.

Effect Of An In-Home Palivizumab Administration Program For Children With Medical Complexity, Hina Emanuel, Aravind Yadav, Julie C Eapan, Maria Caldas-Vasquez, Tomika S Harris, Katrina Mcbeth, Fatima Boricha, Janice John, Ivan G Magana Ceballos, Giuseppe N Colasurdo, Maria E Tellez, Tina Reddy, Wilfredo De Jesús-Rojas, Ricardo A Mosquera

Faculty, Staff and Student Publications

Background: In-home palivizumab administration programs (PH) have shown promise in reducing RSV-associated infections. These programs may be particularly beneficial for children with medical complexity (CMC) by limiting their exposure to healthcare-associated infections (HAIs) from non-RSV-related pathogens during transportation and visits to medical facilities.

Methods: In this prospective study, 41 children with CMC less than 2 years of age were randomized by their health insurance to receive PH or in the clinic (PC) during the RSV season (October 2018-April 2019). Patients were stratified by home ventilation. The primary outcome was the total number of face-to-face encounters. Secondary outcomes were unscheduled clinic …

Early Results Of An Innovative Scalable Digital Treatment For Diabetes Distress In Families Of School-Age Children With Type 1 Diabetes., Susana R. Patton, Jessica S. Pierce, Nicole Kahhan, Matthew Benson, Mark A. Clements, Larry A. Fox

Manuscripts, Articles, Book Chapters and Other Papers

OBJECTIVE: This paper reports on the initial outcomes of a new mHealth intervention to reduce diabetes distress (DD) in families of school-age children living with type 1 diabetes (T1D) entitled, 'Remedy to Diabetes Distress' (R2D2).

METHODS: We randomized 34 families (mean child age = 10 ± 1.4 years; 53% male, 85% White, mean HbA1c = 7.24 ± 0.71%) to one of three delivery arms differing only by number of telehealth visits over a 10-week period: zero visits = self-guided (SG), three visits = enhanced self-guided (ESG), or eight visits = video visits (VV). All families had 24 × 7 access …

Transient Elastography And Diffusion-Weighted Magnetic Resonance Imaging For Assessment Of Liver Fibrosis In Children With Chronic Hepatitis C, Mohamed A El-Guindi, Alif A Allam, Ahmed A Abdel-Razek, Gihan A Sobhy, Menan E Salem, Mohamed A Abd-Allah, Mostafa M Sira

Faculty, Staff and Student Publications

BACKGROUND: Chronic hepatitis C (CHC) is a health burden with consequent morbidity and mortality. Liver biopsy is the gold standard for evaluating fibrosis and assessing disease severity and prognostic purposes post-treatment. Noninvasive alternatives for liver biopsy such as transient elastography (TE) and diffusion-weighted magnetic resonance imaging (DW-MRI) are critical needs.

AIM: To evaluate TE and DW-MRI as noninvasive tools for predicting liver fibrosis in children with CHC.

METHODS: This prospective cross-sectional study initially recruited 100 children with CHC virus infection. Sixty-four children completed the full set of investigations including liver stiffness measurement (LSM) using TE and measurement of apparent diffusion …

Paediatric Mass Casualty Response Through The Lens Of Functional Resonance Analytical Methodology- Lessons Learned., R J Mackinnon, D Slater, R Jenner, T Stenfors, Christopher S. Kennedy, K P Härenstam

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Mass Casualty Incidents are rare but can significantly stress healthcare systems. Functional Resonance Analytical Methodology (FRAM) is a systematic approach to model and explore how complex systems adapt to variations and to understand resilient properties in the face of perturbations. The aim of this study was to use FRAM to create a model of a paediatric trauma system during the initial response to the Manchester Arena Attack to provide resilience-based insights for the management of future Mass Casualty Incidents (MCI).

METHODS: Qualitative interviews in the immediate aftermath of a terrorist bombing, were followed up with further in-depth probing of …

Beat The Boredom With Books! (Spanish), Mattie Lastovica, Lorraine Sheldon

Bibliotherapy

Beat the Boredom with Books was part of a resident research project. The research questions was "does intentional promotion of the Krissi Holman Family Library and the benefits of reading/screen time limitations during the hospital admission process increase use of and access to books from the in-hospital library in children ages O to 5 years?" The document includes facts about screentime use in pediatrics and information about the library.

Beat The Boredom With Books! (English), Mattie Lastovica, Lorraine Sheldon

Bibliotherapy

Beat the Boredom with Books was part of a resident research project. The research questions was "does intentional promotion of the Krissi Holman Family Library and the benefits of reading/screen time limitations during the hospital admission process increase use of and access to books from the in-hospital library in children ages O to 5 years?" The document includes facts about screen time use in pediatrics and information about the library.

Rule Breakers Achieve Successful Shoulder Balance: Unraveling The Myth Of Upper Instrumented Vertebrae Selection Criteria, Luke C. Drake, Peter W. D’Amore, Bailli Fontenot, Tyler A. Tetreault, Manaf Younis, Claudia Leonardi, Jaquelyn Valenzuela-Moss, Lindsay M. Andras, Michael J. Heffernan

School of Medicine Faculty Publications

Purpose: This study compared shoulder balance outcomes in “rule breakers” (RB) vs. “rule followers” (RF) based on commonly utilized upper instrumented vertebrae (UIV) selection guidelines. Methods: Adolescent idiopathic scoliosis (AIS) patients (Lenke 1–4) who underwent posterior spine fusion (PSF) with minimum 2-year follow-up had radiographic measurement of shoulder balance including first rib angle (FRA), T1 tilt, coracoid process height difference (CPHD), and clavicle angle (CA) at preop, postop, 6-month, 1-year, and 2-year timepoints. Postoperative outcomes were compared between RB and RF groups defined based on the UIV selection guidelines of Rose and Lenke. Results: Among 88 patients (43 RF, 45 …

Global Trends In Type 1 Diabetes In Adolescents And Young Adults (1990–2019), Jessy Louisa Silfer, Ksenia N. Tonyushkina

Faculty Scholarship

The study by Gong et al. examines the increases in the incidence, prevalence, and burden trends of type 1 diabetes (T1D) in adolescents and young adults over a 30-year span (1990 – 2019) by age, sex, and geographical regions based on the data from the 204 countries and territories included in the Global Burden of Disease (GBD) collaborative.1 Burden is defined as a combination of mortality rates and disability adjusted life year (DALY) indexes. The results of this 3-decade study should be interpreted within the milieu of improvements in the diagnosis and treatment of T1D over this period as well …

Trends In Pediatric Opioid Prescribing And Use, Robert W. Steele, Michelle Dephillips

Pediatrics in Practice: A CME Podcast

In this episode, Dr. Michelle DePhillips leads a discussion focusing on the rising trend in opioid prescribing, and its effects on global health.

Click here to stream the podcast episode.

14-Month-Old Female With Anti-Mda5 Juvenile Dermatomyositis Complicated By Liver Disease: A Case Report., Mitch Kinkor, Sameena Hameed, Alexander Kats, Voytek Slowik, Emily Fox, Maria Ibarra

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Juvenile Dermatomyositis (JDM) is a rare disorder with subtypes associated with different myositis-specific antibodies (MSAs) including anti-MDA5. Hepatic involvement in JDM is rare and has not previously been documented in anti-MDA5 JDM. There is a lack of formal research on treatment protocols for anti-MDA5 JDM, though tofacitinib is a highly regarded emerging therapy.

CASE PRESENTATION: A previously healthy 14-month-old Hispanic female presented to a pediatric rheumatology clinic with eight months of worsening rash, weakness, periorbital edema, intermittent fevers, and weight loss. Her physical exam was notable for fever, thinning of hair, heliotrope rash, periorbital edema, violaceous macules on her …

A Systematic Review And Meta-Analysis Of Non-Suicidal Self-Injury Among Incarcerated Juveniles, Chikira H. Barker, Justin Gibson, Rose Tusa, Charlotte Pearson, Aaron Mack, Sydney Sukhdeo, Rahn K. Bailey

School of Medicine Faculty Publications

Non-suicidal self-injury (NSSI) most commonly occurs during adolescence, and it represents one of the highest risk factors for future suicidal behaviors. Understanding the prevalence, risk factors, and effective treatments in high-risk groups, such as adolescents who are criminally incarcerated, is of substantial importance. A systematic review was conducted on articles related to NSSI in incarcerated adolescents. The results of the meta-analysis found that the pooled estimated prevalence of NSSI in this population is 28% (95% CI: 0.21–0.36). Studies varied in their methods of measuring NSSI, with some relying on medical record reviews, unstandardized assessments, or standardized assessments. Several demographic, social, …

Association Of Right Ventricular Dysfunction With Risk Of Neurodevelopmental Impairment In Infants With Pulmonary Hypertension, Rossana Romero Orozco, Tazuddin Mohammed, Kerri Carter, Shaaron Brown, Stephen Miller, Roy Sabo, Meredith Campbell Joseph, Uyen Truong, Megha Nair, Victoria Anderson, Jie Xu, Judith Voynow, Karen Hendricks-Muñoz

SKMC Student Presentations and Publications

(1) Background: Pulmonary hypertension (PH) increases pulmonary vascular resistance and right ventricular (RV) afterload. Assessment of RV systolic function in PH using RV fractional area change (RV FAC) as a marker directly correlates with mortality and the need for extracorporeal membrane oxygenation (ECMO). However, few studies have assessed neurodevelopmental outcomes. We hypothesize that cardiac RV systolic dysfunction with lower RV FAC is associated with worse neurodevelopmental impairment (NI).

(2) Methods: Retrospective study of 42 subjects with PH to evaluate neurodevelopmental outcomes in the first two years of life based on (i) subjective assessment of RV systolic function and (ii) RV …

Microglia In Post-Mortem Hippocampal Brain Tissue Of Male And Female Neonates After Hie, Kassandra M. Pulido, Angela N. Viaene, Amelia J. Eisch, Danielle G. Barber

Research Colloquium

Background: Hypoxic-ischemic encephalopathy (HIE) is the second-leading cause of neonatal morbidity and mortality worldwide. There are sex differences in the pathophysiology of HIE, particularly in microglia, which are critical in the immune response. Prior work highlights microglial aggregation in the hippocampus of human infants as a marker for HIE, but it is unknown whether this differs by sex.

Aim: We compare the microglial response in post-mortem hippocampal tissue from male and female neonates diagnosed with HIE vs. Controls who expired from other causes.

Methods: Using a retrospective cohort design, we reviewed medical records of neonates with hippocampal tissue in the …