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Full-Text Articles in Medicine and Health Sciences

Neonate, Infant, And Child Mortality In North Africa And Middle East By Cause: An Analysis For The Global Burden Of Disease Study 2019, Sadaf G. Sepanlou, Hossein Rezaei Aliabadi, Reza Malekzadeh, Ali. A. Asadi-Pooya Dec 2022

Neonate, Infant, And Child Mortality In North Africa And Middle East By Cause: An Analysis For The Global Burden Of Disease Study 2019, Sadaf G. Sepanlou, Hossein Rezaei Aliabadi, Reza Malekzadeh, Ali. A. Asadi-Pooya

Global Health Articles

Background: During the past three decades, neonate, infant, and child mortality declined in North Africa and Middle East. However, there is substantial heterogeneity in mortality rates across countries.

Methods: This study is part of the Global Burden of Diseases study (GBD) 2019. We report the number as well as mortality rates for neonates, infants, and children by cause across 21 countries in the region since 1990.

Results: Between 1990 and 2019, the neonate mortality rate in the region declined from 31.9 (29.8, 34.0) to 12.2 (11.1, 13.3) per 1000 live births. Respective figures for under 5 mortality rates (U5MRs) were …


A Roadmap For Potential Improvement Of Newborn Screening For Inherited Metabolic Diseases Following Recent Developments And Successful Applications Of Bivariate Normal Limits For Pre-Symptomatic Detection Of Mps I, Pompe Disease, And Krabbe Disease, Kabir Jalal, Randy L Carter, Amy Barczykowski, Shunji Tomatsu, Thomas J Langan Nov 2022

A Roadmap For Potential Improvement Of Newborn Screening For Inherited Metabolic Diseases Following Recent Developments And Successful Applications Of Bivariate Normal Limits For Pre-Symptomatic Detection Of Mps I, Pompe Disease, And Krabbe Disease, Kabir Jalal, Randy L Carter, Amy Barczykowski, Shunji Tomatsu, Thomas J Langan

Department of Pediatrics Faculty Papers

The mucopolysaccharidoses (MPS), Pompe Disease (PD), and Krabbe disease (KD) are inherited conditions known as lysosomal storage disorders (LSDs) The resulting enzyme deficiencies give rise to progressive symptoms. The United States Department of Health and Human Services' Recommended Uniform Screening Panel (RUSP) suggests LSDs for inclusion in state universal newborn screening (NBS) programs and has identified screening deficiencies in MPS I, KD, and PD NBS programs. MPS I NBS programs utilize newborn dried blood spots and assay alpha L-iduronidase (IDUA) enzyme to screen for potential cases. Glycosaminoglycans (GAGs) offer potential as a confirmatory test. KD NBS programs utilize galactocerebrosidase (GaLC) …


Ventilation Strategies During Extracorporeal Membrane Oxygenation For Neonatal Respiratory Failure: Current Approaches Among Level Iv Neonatal Icus, John Ibrahim, Burhan Mahmood, Robert Digeronimo, Natalie E Rintoul, Shannon E Hamrick, Rachel Chapman, Sarah Keene, Ruth B Seabrook, Zeenia Billimoria, Rakesh Rao, John Daniel, John Cleary, Kevin Sullivan, Brian Gray, Mark Weems, Daniel R Dirnberger Nov 2022

Ventilation Strategies During Extracorporeal Membrane Oxygenation For Neonatal Respiratory Failure: Current Approaches Among Level Iv Neonatal Icus, John Ibrahim, Burhan Mahmood, Robert Digeronimo, Natalie E Rintoul, Shannon E Hamrick, Rachel Chapman, Sarah Keene, Ruth B Seabrook, Zeenia Billimoria, Rakesh Rao, John Daniel, John Cleary, Kevin Sullivan, Brian Gray, Mark Weems, Daniel R Dirnberger

Department of Pediatrics Faculty Papers

To describe ventilation strategies used during extracorporeal membrane oxygenation (ECMO) for neonatal respiratory failure among level IV neonatal ICUs (NICUs).

Design: Cross-sectional electronic survey.

Setting: Email-based Research Electronic Data Capture survey.

Patients: Neonates undergoing ECMO for respiratory failure at level IV NICUs.

Interventions: A 40-question survey was sent to site sponsors of regional referral neonatal ECMO centers participating in the Children's Hospitals Neonatal Consortium. Reminder emails were sent at 2- and 4-week intervals.

Measurements and main results: Twenty ECMO centers responded to the survey. Most primarily use venoarterial ECMO (65%); this percentage is higher (90%) for congenital diaphragmatic hernia. Sixty-five …


Changes In Prenatal Testing During The Covid-19 Pandemic, Sara C Handley, Rachel Ledyard, Lisbet S Lundsberg, Molly Passarella, Nancy Yang, Moeun Son, Kathryn Mckenney, Jay S. Greenspan, Kevin Dysart, Jennifer F Culhane, Heather H Burris Nov 2022

Changes In Prenatal Testing During The Covid-19 Pandemic, Sara C Handley, Rachel Ledyard, Lisbet S Lundsberg, Molly Passarella, Nancy Yang, Moeun Son, Kathryn Mckenney, Jay S. Greenspan, Kevin Dysart, Jennifer F Culhane, Heather H Burris

Department of Pediatrics Faculty Papers

Objective: The coronavirus disease 2019 (COVID-19) pandemic disrupted healthcare delivery, including prenatal care. The study objective was to assess if timing of routine prenatal testing changed during the COVID-19 pandemic.

Methods: Retrospective observational cohort study using claims data from a regional insurer (Highmark) and electronic health record data from two academic health systems (Penn Medicine and Yale New Haven) to compare prenatal testing timing in the pre-pandemic (03/10/2018-12/31/2018 and 03/10/2019-12/31/2019) and early COVID-19 pandemic (03/10/2020-12/31/2020) periods. Primary outcomes were second trimester fetal anatomy ultrasounds and gestational diabetes (GDM) testing. A secondary analysis examined first trimester ultrasounds.

Results: The three datasets …


Active Vs Traditional Methods Of Recruiting Children For A Clinical Trial In Rural Primary Care Clinics: A Cluster-Randomized Clinical Trial, Paul M Darden, Ann M Davis, Jeannette Y Lee, Milan Bimali, Alan E Simon, Andrew M Atz, Crystal S Lim, Thao-Ly Phan, James R Roberts, Russell J Mcculloh, Lee Pyles, Michelle Shaffer, Jessica N Snowden Nov 2022

Active Vs Traditional Methods Of Recruiting Children For A Clinical Trial In Rural Primary Care Clinics: A Cluster-Randomized Clinical Trial, Paul M Darden, Ann M Davis, Jeannette Y Lee, Milan Bimali, Alan E Simon, Andrew M Atz, Crystal S Lim, Thao-Ly Phan, James R Roberts, Russell J Mcculloh, Lee Pyles, Michelle Shaffer, Jessica N Snowden

Department of Pediatrics Faculty Papers

Importance: To our knowledge, there are no published randomized clinical trials of recruitment strategies. Rigorously evaluated successful recruitment strategies for children are needed.

Objective: To evaluate the feasibility of 2 recruitment methods for enrolling rural children through primary care clinics to assess whether either or both methods are sufficiently effective for enrolling participants into a clinical trial of a behavioral telehealth intervention for children with overweight or obesity.

Design, setting, and participants: This cluster-randomized clinical trial of 2 recruitment methods was conducted at 4 primary care clinics in 4 separate states. Each clinic used both recruitment methods in random order. …


Prevalence Of High Blood Pressure Among Youth In India And Association With Future Cardiovascular Disease, Abbas H. Zaidi, Sarah D. De Ferranti Oct 2022

Prevalence Of High Blood Pressure Among Youth In India And Association With Future Cardiovascular Disease, Abbas H. Zaidi, Sarah D. De Ferranti

Department of Pediatrics Faculty Papers

No abstract provided.


Genetic Testing To Inform Epilepsy Treatment Management From An International Study Of Clinical Practice, Dianalee Mcknight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Michael Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos-Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman-Englert, Rebecca J. Levy, Venu G. Parachuri, Guillermo Lay-Son, David J. Dávila-Ortiz De Montellano, Miguel Angel Ramirez-Garcia, Edmar O. Benítez Alonso, Julie Ziobro, Adela Chirita-Emandi, Temis M. Felix, Dianne Kulasa-Luke, Andre Megarbane, Shefali Karkare, Sarah L. Chagnon, Jennifer B. Humberson, Melissa J. Assaf, Sebastian Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean T. Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Y. Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, Oleksandr Miroshnikov, Britton Zuccarelli, Louise Amlie-Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy-Santoyo, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan S. Candee, Caleb P. Bupp, Kristen L. Park, Eric Muller, Pamela Lupo, Robert C. Pedersen, Amir M. Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa A. Kellogg, Evelyn G. Lora, Robert P. Carson, Victoria Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, Tetiana Stetsenko, Milagros M. Dueñas-Roque, Joseph Trasmonte, Rebecca J. Burke, Anna C. E. Hurst, Douglas M. Smith, Lauren J. Massingham, Laura Pisani, Carrie E. Costin, Betsy Ostrander, Francis M. Filloux, Amitha L. Ananth, Ismail S. Mohamed, Alla Nechai, Jasmin M. Dao, Michael C. Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha, Bailey Meibos, Kristen Wong, Matthew T. Sweney, A. Chris Espinoza, Colin B. Van Orman, Arie Weinstock, Ashutosh Kumar, Claudia Soler-Alfonso, Danielle A. Nolan, Muhammad Raza, Miguel David Rojas Carrion, Geetha Chari, Eric D. Marsh, Yael Shiloh-Malawsky, Sumit Parikh, Ernesto Gonzalez-Giraldo, Stephen Fulton, Yoshimi Sogawa, Kaitlyn Burns, Myroslava Malets, Johnny David Montiel Blanco, Christa W. Habela, Carey A. Wilson, Guillermo G. Guzmán, Mariia Pavliuk Oct 2022

Genetic Testing To Inform Epilepsy Treatment Management From An International Study Of Clinical Practice, Dianalee Mcknight, Ana Morales, Kathryn E. Hatchell, Sara L. Bristow, Joshua L. Bonkowsky, Michael Scott Perry, Anne T. Berg, Felippe Borlot, Edward D. Esplin, Chad Moretz, Katie Angione, Loreto Ríos-Pohl, Robert L. Nussbaum, Swaroop Aradhya, Chad R. Haldeman-Englert, Rebecca J. Levy, Venu G. Parachuri, Guillermo Lay-Son, David J. Dávila-Ortiz De Montellano, Miguel Angel Ramirez-Garcia, Edmar O. Benítez Alonso, Julie Ziobro, Adela Chirita-Emandi, Temis M. Felix, Dianne Kulasa-Luke, Andre Megarbane, Shefali Karkare, Sarah L. Chagnon, Jennifer B. Humberson, Melissa J. Assaf, Sebastian Silva, Katherine Zarroli, Oksana Boyarchuk, Gary R. Nelson, Rachel Palmquist, Katherine C. Hammond, Sean T. Hwang, Susan B. Boutlier, Melinda Nolan, Kaitlin Y. Batley, Devraj Chavda, Carlos Alberto Reyes-Silva, Oleksandr Miroshnikov, Britton Zuccarelli, Louise Amlie-Wolf, James W. Wheless, Syndi Seinfeld, Manoj Kanhangad, Jeremy L. Freeman, Susana Monroy-Santoyo, Natalia Rodriguez-Vazquez, Monique M. Ryan, Michelle Machie, Patricio Guerra, Muhammad Jawad Hassan, Meghan S. Candee, Caleb P. Bupp, Kristen L. Park, Eric Muller, Pamela Lupo, Robert C. Pedersen, Amir M. Arain, Andrea Murphy, Krista Schatz, Weiyi Mu, Paige M. Kalika, Lautaro Plaza, Marissa A. Kellogg, Evelyn G. Lora, Robert P. Carson, Victoria Svystilnyk, Viviana Venegas, Rebecca R. Luke, Huiyuan Jiang, Tetiana Stetsenko, Milagros M. Dueñas-Roque, Joseph Trasmonte, Rebecca J. Burke, Anna C. E. Hurst, Douglas M. Smith, Lauren J. Massingham, Laura Pisani, Carrie E. Costin, Betsy Ostrander, Francis M. Filloux, Amitha L. Ananth, Ismail S. Mohamed, Alla Nechai, Jasmin M. Dao, Michael C. Fahey, Ermal Aliu, Stephen Falchek, Craig A. Press, Lauren Treat, Krista Eschbach, Angela Starks, Ryan Kammeyer, Joshua J. Bear, Mona Jacobson, Veronika Chernuha, Bailey Meibos, Kristen Wong, Matthew T. Sweney, A. Chris Espinoza, Colin B. Van Orman, Arie Weinstock, Ashutosh Kumar, Claudia Soler-Alfonso, Danielle A. Nolan, Muhammad Raza, Miguel David Rojas Carrion, Geetha Chari, Eric D. Marsh, Yael Shiloh-Malawsky, Sumit Parikh, Ernesto Gonzalez-Giraldo, Stephen Fulton, Yoshimi Sogawa, Kaitlyn Burns, Myroslava Malets, Johnny David Montiel Blanco, Christa W. Habela, Carey A. Wilson, Guillermo G. Guzmán, Mariia Pavliuk

Department of Pediatrics Faculty Papers

IMPORTANCE: It is currently unknown how often and in which ways a genetic diagnosis given to a patient with epilepsy is associated with clinical management and outcomes.

OBJECTIVE: To evaluate how genetic diagnoses in patients with epilepsy are associated with clinical management and outcomes.

DESIGN, SETTING, AND PARTICIPANTS: This was a retrospective cross-sectional study of patients referred for multigene panel testing between March 18, 2016, and August 3, 2020, with outcomes reported between May and November 2020. The study setting included a commercial genetic testing laboratory and multicenter clinical practices. Patients with epilepsy, regardless of sociodemographic features, who received a …


Sex Difference Leads To Differential Gene Expression Patterns And Therapeutic Efficacy In Mucopolysaccharidosis Iva Murine Model Receiving Aav8 Gene Therapy, Matthew Matthew Piechnik, Paige C. Amendum, Kazuki Sawamoto, Molly Stapleton, Shaukat Khan, Nidhi Fnu, Victor Álvarez, Angelica Maria Herreño Pachon, Olivier Danos, Joseph T. Bruder, Subha Karumuthil-Melethil, Shunji Tomatsu Oct 2022

Sex Difference Leads To Differential Gene Expression Patterns And Therapeutic Efficacy In Mucopolysaccharidosis Iva Murine Model Receiving Aav8 Gene Therapy, Matthew Matthew Piechnik, Paige C. Amendum, Kazuki Sawamoto, Molly Stapleton, Shaukat Khan, Nidhi Fnu, Victor Álvarez, Angelica Maria Herreño Pachon, Olivier Danos, Joseph T. Bruder, Subha Karumuthil-Melethil, Shunji Tomatsu

Student Papers, Posters & Projects

Adeno-associated virus (AAV) vector-based therapies can effectively correct some disease pathology in murine models with mucopolysaccharidoses. However, immunogenicity can limit therapeutic effect as immune responses target capsid proteins, transduced cells, and gene therapy products, ultimately resulting in loss of enzyme activity. Inherent differences in male versus female immune response can significantly impact AAV gene transfer. We aim to investigate sex differences in the immune response to AAV gene therapies in mice with mucopolysaccharidosis IVA (MPS IVA). MPS IVA mice, treated with different AAV vectors expressing human N-acetylgalactosamine 6-sulfate sulfatase (GALNS), demonstrated a more robust antibody response in female mice resulting …


Biological Networks And Complexity In Early-Onset Motor Neuron Diseases, Matthew E. R. Butchbach, Rod C. Scott Oct 2022

Biological Networks And Complexity In Early-Onset Motor Neuron Diseases, Matthew E. R. Butchbach, Rod C. Scott

Department of Pediatrics Faculty Papers

Motor neuron diseases (MNDs) are neuromuscular disorders where the spinal motor neurons–either the cell bodies themselves or their axons–are the primary cells affected. To date, there are 120 different genes that are lost or mutated in pediatric-onset MNDs. Most of these childhood-onset disorders, aside from spinal muscular atrophy (SMA), lack viable therapeutic options. Previous research on MNDs has focused on understanding the pathobiology of a single, specific gene mutation and targeting therapies to that pathobiology. This reductionist approach has yielded therapeutic options for a specific disorder, in this case SMA. Unfortunately, therapies specific for SMA have not been effective against …


Genetic Conditions Of Short Stature: A Review Of Three Classic Examples, Merlin G Butler, Bradley S Miller, Alicia Romano, Judith L. Ross, M Jennifer Abuzzahab, Philippe Backeljauw, Vaneeta Bamba, Amrit Bhangoo, Nelly Mauras, Mitchell Geffner Oct 2022

Genetic Conditions Of Short Stature: A Review Of Three Classic Examples, Merlin G Butler, Bradley S Miller, Alicia Romano, Judith L. Ross, M Jennifer Abuzzahab, Philippe Backeljauw, Vaneeta Bamba, Amrit Bhangoo, Nelly Mauras, Mitchell Geffner

Department of Pediatrics Faculty Papers

Noonan, Turner, and Prader-Willi syndromes are classical genetic disorders that are marked by short stature. Each disorder has been recognized for several decades and is backed by extensive published literature describing its features, genetic origins, and optimal treatment strategies. These disorders are accompanied by a multitude of comorbidities, including cardiovascular issues, endocrinopathies, and infertility. Diagnostic delays, syndrome-associated comorbidities, and inefficient communication among the members of a patient's health care team can affect a patient's well-being from birth through adulthood. Insufficient information is available to help patients and their multidisciplinary team of providers transition from pediatric to adult health care systems. …


Dyadic Digital Health Interventions: Their Rationale And Implementation, Kelly M. Shaffer, Lindsay S. Mayberry, Emily Georgia Salivar, Brian D. Doss, Amanda M. Lewis, Kimberly Canter Sep 2022

Dyadic Digital Health Interventions: Their Rationale And Implementation, Kelly M. Shaffer, Lindsay S. Mayberry, Emily Georgia Salivar, Brian D. Doss, Amanda M. Lewis, Kimberly Canter

Department of Pediatrics Faculty Papers

While most psychosocial and behavioral digital health interventions have been designed to be consumed by an individual, intervening at the level of a dyad – two interdependent individuals – can more comprehensively address the needs of both individuals and their relationship. The clinical utility of the dyadic digital health intervention approach, as well as the practical implementation of this design, will be demonstrated via three examples: eSCCIP, FAMS, and OurRelationship.


Design, Development, And Testing Of Best4baby, An Mhealth Technology To Support Exclusive Breastfeeding In India: Pilot Study., Tony Ma, Katie Chang, Amal Alyusuf, Elina Bajracharya, Yukiko Washio, Patricia J Kelly, Roopa M Bellad, Niranjana S Mahantashetti, Umesh Charantimath, Vanessa Short, Parth Lalakia, Frances J. Jaeger, Shivaprasad Goudar, Richard Derman Sep 2022

Design, Development, And Testing Of Best4baby, An Mhealth Technology To Support Exclusive Breastfeeding In India: Pilot Study., Tony Ma, Katie Chang, Amal Alyusuf, Elina Bajracharya, Yukiko Washio, Patricia J Kelly, Roopa M Bellad, Niranjana S Mahantashetti, Umesh Charantimath, Vanessa Short, Parth Lalakia, Frances J. Jaeger, Shivaprasad Goudar, Richard Derman

Department of Pediatrics Faculty Papers

Background: Exclusive breastfeeding (EBF) at 6 months of age in most low- and middle-income countries, including India, is surprisingly low. There is a relative lack of mobile health apps that specifically focus on leveraging the use of peer counselors (PCs) to support mothers as a means of increasing EBF practices in low- and middle-income countries.

Objective: This study aimed to design, develop, and test the usability of Breastfeeding Education Support Tool for Baby (BEST4Baby), a mobile health app specifically designed to support PCs in providing in-home breastfeeding counseling support to mothers in rural India on optimal breastfeeding practices.

Methods: A …


Prmt5 Activates Akt Via Methylation To Promote Tumor Metastasis., Lei Huang, Xiao-Ou Zhang, Esteban J Rozen, Xiaomei Sun, Benjamin Sallis, Odette Verdejo-Torres, Kim Wigglesworth, Daniel Moon, Tingting Huang, John P Cavaretta, Gang Wang, Lei Zhang, Jason M Shohet, Mary M. Lee, Qiong Wu Jul 2022

Prmt5 Activates Akt Via Methylation To Promote Tumor Metastasis., Lei Huang, Xiao-Ou Zhang, Esteban J Rozen, Xiaomei Sun, Benjamin Sallis, Odette Verdejo-Torres, Kim Wigglesworth, Daniel Moon, Tingting Huang, John P Cavaretta, Gang Wang, Lei Zhang, Jason M Shohet, Mary M. Lee, Qiong Wu

Department of Pediatrics Faculty Papers

Protein arginine methyltransferase 5 (PRMT5) is the primary methyltransferase generating symmetric-dimethyl-arginine marks on histone and non-histone proteins. PRMT5 dysregulation is implicated in multiple oncogenic processes. Here, we report that PRMT5-mediated methylation of protein kinase B (AKT) is required for its subsequent phosphorylation at Thr308 and Ser473. Moreover, pharmacologic or genetic inhibition of PRMT5 abolishes AKT1 arginine 15 methylation, thereby preventing AKT1 translocation to the plasma membrane and subsequent recruitment of its upstream activating kinases PDK1 and mTOR2. We show that PRMT5/AKT signaling controls the expression of the epithelial-mesenchymal-transition transcription factors ZEB1, SNAIL, and TWIST1. PRMT5 inhibition significantly attenuates primary tumor …


Disease Burden And Management Of Crigler-Najjar Syndrome: Report Of A World Registry, Sem J Aronson, Norman Junge, Mediha Trabelsi, Wided Kelmemi, Aurelie Hubert, Karlla W Brigatti, Michael D. Fox, Robert J De Knegt, Johanna C Escher, Virginia M Ginocchio, Raffaele Iorio, Yan Zhu, Figen Özçay, Fakher Rahim, Mortada H F El-Shabrawi, Eyal Shteyer, Angelo Di Giorgio, Lorenzo D'Antiga, Federico Mingozzi, Nicola Brunetti-Pierri, Kevin A Strauss, Philippe Labrune, Ridha Mrad, Ulrich Baumann, Ulrich Beuers, Piter J Bosma Jul 2022

Disease Burden And Management Of Crigler-Najjar Syndrome: Report Of A World Registry, Sem J Aronson, Norman Junge, Mediha Trabelsi, Wided Kelmemi, Aurelie Hubert, Karlla W Brigatti, Michael D. Fox, Robert J De Knegt, Johanna C Escher, Virginia M Ginocchio, Raffaele Iorio, Yan Zhu, Figen Özçay, Fakher Rahim, Mortada H F El-Shabrawi, Eyal Shteyer, Angelo Di Giorgio, Lorenzo D'Antiga, Federico Mingozzi, Nicola Brunetti-Pierri, Kevin A Strauss, Philippe Labrune, Ridha Mrad, Ulrich Baumann, Ulrich Beuers, Piter J Bosma

Department of Pediatrics Faculty Papers

Background and Aims Crigler-Najjar syndrome (CNS) is a disorder of bilirubin conjugation leading to brain damage and death without treatment. Although cohort studies of limited size have been published, uncertainty about outcome, co-morbidities, occurence of liver fibrosis and treatment outcome remains. With this worldwide cohort study, we aim to add substantial knowledge to the previously published data.

Methods Anonymized retrospective data of CNS patients were collected in a web-based registry platform.

Results Clinical data of 221 CNS patients (46% female, severe phenotype n = 209) were collected. At the time of analysis, 59 CNS patients were deceased. Mean serum total …


Actions Against Racism: Bringing Together Trauma-Informed Practices, Social-Emotional Learning, And Racial Socialization To Combat Racism In Schools, Danielle R Hatchimonji, Kira Branch, Danika Perry, Tia N Barnes May 2022

Actions Against Racism: Bringing Together Trauma-Informed Practices, Social-Emotional Learning, And Racial Socialization To Combat Racism In Schools, Danielle R Hatchimonji, Kira Branch, Danika Perry, Tia N Barnes

Department of Pediatrics Faculty Papers

Racism is a social determinant of health with dire consequences for the health, education, and mental health of students of color. Thus, there is an urgent need to develop and test evidence-based strategies to combat racism in schools. In response to this need, our team has developed a multi-tiered school-based intervention to build capacity for combatting racism in educators, students, and families. The "Actions Against Racism" intervention synthesizes three evidence-based practices: trauma-informed practices, social-emotional learning (SEL), and racial socialization. The multiple tiers of intervention aim to cultivate skills for combatting individual and structural racism in educators, families, and students across …


Covid-19 Infection During Pregnancy Induces Differential Gene Expression In Human Cord Blood Cells From Term Neonates, Suhita Gayen Nee' Betal, Pedro Urday, Huda B. Al-Kouatly, Kolawole Solarin, Joanna Chan, Sankar Addya, Rupsa Boelig, Zubair H. Aghai Apr 2022

Covid-19 Infection During Pregnancy Induces Differential Gene Expression In Human Cord Blood Cells From Term Neonates, Suhita Gayen Nee' Betal, Pedro Urday, Huda B. Al-Kouatly, Kolawole Solarin, Joanna Chan, Sankar Addya, Rupsa Boelig, Zubair H. Aghai

Department of Pediatrics Faculty Papers

Background: The COVID-19 pandemic continues worldwide with fluctuating case numbers in the United States. This pandemic has affected every segment of the population with more recent hospitalizations in the pediatric population. Vertical transmission of COVID-19 is uncommon, but reports show that there are thrombotic, vascular, and inflammatory changes in the placenta to which neonates are prenatally exposed. Individuals exposed in utero to influenza during the 1918 pandemic had increased risk for heart disease, kidney disease, diabetes, stomach disease and hypertension. Early exposure of COVID-19 during fetal life may lead to altered gene expression with potential long-term consequences.

Objective: To determine …


Partnering With Stakeholders To Inform The Co-Design Of A Psychosocial Intervention For Prenatally Diagnosed Congenital Heart Disease, Erica D. Sood, Colette Gramszlo, Alejandra Perez Ramirez, Katherine Braley, Samantha C Butler, Jo Ann Davis, Allison A Divanovic, Lindsay A Edwards, Nadine Kasparian, Sarah L Kelly, Trent Neely, Cynthia M Ortinau, Erin Riegel, Amanda J Shillingford, Anne E Kazak Apr 2022

Partnering With Stakeholders To Inform The Co-Design Of A Psychosocial Intervention For Prenatally Diagnosed Congenital Heart Disease, Erica D. Sood, Colette Gramszlo, Alejandra Perez Ramirez, Katherine Braley, Samantha C Butler, Jo Ann Davis, Allison A Divanovic, Lindsay A Edwards, Nadine Kasparian, Sarah L Kelly, Trent Neely, Cynthia M Ortinau, Erin Riegel, Amanda J Shillingford, Anne E Kazak

Department of Pediatrics Faculty Papers

Input from diverse stakeholders is critical to the process of designing healthcare interventions. This study applied a novel mixed-methods, stakeholder-engaged approach to co-design a psychosocial intervention for mothers expecting a baby with congenital heart disease (CHD) and their partners to promote family wellbeing. The research team included parents and clinicians from 8 health systems. Participants were 41 diverse parents of children with prenatally diagnosed CHD across the 8 health systems. Qualitative data were collected through online crowdsourcing and quantitative data were collected through electronic surveys to inform intervention co-design. Phases of intervention co-design were: (I) Engage stakeholders in selection of …


Csf-1 Maintains Pathogenic But Not Homeostatic Myeloid Cells In The Central Nervous System During Autoimmune Neuroinflammation, Daniel Hwang, Maryam S Seyedsadr, Larissa Ishikawa, Alexandra Boehm, Ziver Sahin, Giacomo Casella, Soohwa Jang, Michael V Gonzalez, James P Garifallou, Hakon Hakonarson, Weifeng Zhang, Dan Xiao, A M Rostami, Guang-Xian Zhang, Bogoljub Ciric Apr 2022

Csf-1 Maintains Pathogenic But Not Homeostatic Myeloid Cells In The Central Nervous System During Autoimmune Neuroinflammation, Daniel Hwang, Maryam S Seyedsadr, Larissa Ishikawa, Alexandra Boehm, Ziver Sahin, Giacomo Casella, Soohwa Jang, Michael V Gonzalez, James P Garifallou, Hakon Hakonarson, Weifeng Zhang, Dan Xiao, A M Rostami, Guang-Xian Zhang, Bogoljub Ciric

Department of Neurology Faculty Papers

SignificanceMultiple sclerosis (MS) and its animal model, experimental autoimmune encephalomyelitis (EAE), are autoimmune diseases characterized by accumulation of myeloid cells in the central nervous system (CNS). Both harmful and beneficial myeloid cells are present in EAE/MS, and a goal of MS therapy is to preferentially remove harmful myeloid cells. The receptor for CSF-1 (CSF-1R) is found on myeloid cells and is important for their survival. CSF-1R can bind two ligands, CSF-1 and IL-34, but it is not known whether their functions in EAE/MS differ. We found that blocking CSF-1 depleted only harmful myeloid cells in the CNS and suppressed EAE, …


A Standardized Diagnostic Pathway For Suspected Appendicitis In Children Reduces Unnecessary Imaging, Roshan J. D'Cruz, Allison F. Linden, Courtney L. Devon, Jillian Savage, Arezoo Zomorrodi, Kirk W. Reichard, Arabinda Choudhary, Loren Berman Mar 2022

A Standardized Diagnostic Pathway For Suspected Appendicitis In Children Reduces Unnecessary Imaging, Roshan J. D'Cruz, Allison F. Linden, Courtney L. Devon, Jillian Savage, Arezoo Zomorrodi, Kirk W. Reichard, Arabinda Choudhary, Loren Berman

Department of Surgery Faculty Papers

Introduction:

Ultrasound (US) for the diagnosis of acute appendicitis is often nondiagnostic, and additional imaging is required. A standardized approach may reduce unnecessary imaging.

Methods:

We retrospectively analyzed all patients who had imaging for appendicitis in our emergency department in 2017 and evaluated patient characteristics associated with nondiagnostic US. Using these results, we developed a pediatric appendicitis score (PAS)-based imaging pathway and compared imaging trends prepathway and postpathway implementation.

Results:

A total of 971 patients received imaging for suspected appendicitis prepathway in 2017. Female sex, obesity, and low/intermediate PAS were significantly associated with nondiagnostic US, but not magnetic resonance imaging …


Return To School After Anterior Cruciate Ligament Reconstruction: A Prospective Study Of Adolescents And Young Adults., Joseph Brutico, Ryan W. Paul, Margaret Wright, Steven Cohen, Michael G. Ciccotti, Christopher C Dodson, Kevin Freedman, Sommer Hammoud Mar 2022

Return To School After Anterior Cruciate Ligament Reconstruction: A Prospective Study Of Adolescents And Young Adults., Joseph Brutico, Ryan W. Paul, Margaret Wright, Steven Cohen, Michael G. Ciccotti, Christopher C Dodson, Kevin Freedman, Sommer Hammoud

Rothman Institute Faculty Papers

Background: The ability to return to school after orthopaedic surgery is an important consideration for young patients, as there is substantial literature indicating that school attendance is correlated strongly with academic performance.

Purpose: To evaluate the time to return to school, the barriers that students encounter when returning to school, and the academic effect of anterior cruciate ligament reconstruction (ACLR) in high school (HS) and college students.

Study design: Cohort study; Level of evidence, 2.

Methods: Full-time HS and college/graduate school (C/GS) students who underwent ACLR during the 2017 to 2018 and 2018 to 2019 academic periods were included in …


Tangential Cranial Gunshot Wound In An Infant In Historical Context: Illustrative Case, Jeffrey Campbell, Joseph Piatt Mar 2022

Tangential Cranial Gunshot Wound In An Infant In Historical Context: Illustrative Case, Jeffrey Campbell, Joseph Piatt

Department of Pediatrics Faculty Papers

BACKGROUND

Military neurosurgeons have long known that tangential cranial gunshot wounds can be associated with intracranial complications out of proportion to the external appearance of the injury. This phenomenon seems not to have been described in infancy.

OBSERVATIONS

An infant suffered a massive, acute subdural hemorrhage from a contralateral tangential gunshot wound that did not facture the skull.

LESSONS

Similar to adults, infants are subject to catastrophic intracranial injury from gunshots that do not penetrate the skull. The nature of the injury in this case reflected distinctive aspects of the tissue characteristics and proportions of the infant head.


Impact Of Early Feeding: Metagenomics Analysis Of The Infant Gut Microbiome, Matthew D. Di Guglielmo, Karl R Franke, Alan Robbins, Erin L Crowgey Mar 2022

Impact Of Early Feeding: Metagenomics Analysis Of The Infant Gut Microbiome, Matthew D. Di Guglielmo, Karl R Franke, Alan Robbins, Erin L Crowgey

Department of Pediatrics Faculty Papers

Background: Different feeding regimens in infancy alter the gastrointestinal (gut) microbial environment. The fecal microbiota in turn influences gastrointestinal homeostasis including metabolism, immune function, and extra-/intra-intestinal signaling. Advances in next generation sequencing (NGS) have enhanced our ability to study the gut microbiome of breast-fed (BF) and formula-fed (FF) infants with a data-driven hypothesis approach.

Methods: Next generation sequencing libraries were constructed from fecal samples of BF (n=24) and FF (n=10) infants and sequenced on an Illumina HiSeq 2500. Taxonomic classification of the NGS data was performed using the Sunbeam/Kraken pipeline and a functional analysis at the gene level was performed …


A Prospective Cohort Study Of The Clinical Predictors Of Bacteremia In Under-Five Children With Acute Undifferentiated Fever Attending A Secondary Health Facility In Northwestern Nigeria, Taofik Oluwaseun Ogunkunle, Timothy Olanrewaju Adedoyin, Samuel Kolade Ernest, Fatimah Hassan-Hanga, Abdulazeez Imam, Rasaq Olaosebikan, Stephen K Obaro Feb 2022

A Prospective Cohort Study Of The Clinical Predictors Of Bacteremia In Under-Five Children With Acute Undifferentiated Fever Attending A Secondary Health Facility In Northwestern Nigeria, Taofik Oluwaseun Ogunkunle, Timothy Olanrewaju Adedoyin, Samuel Kolade Ernest, Fatimah Hassan-Hanga, Abdulazeez Imam, Rasaq Olaosebikan, Stephen K Obaro

Department of Pharmacology and Experimental Therapeutics Faculty Papers

Background: Children with acute febrile illness with no localizing signs often receive antibiotics empirically in most resource-poor settings. However, little is known about the burden of bacteremia in this category of patients, and an appraisal is thus warranted. This will guide clinical practice and promote rational antibiotics use.

Methods: We prospectively followed up 140 under-five children who presented with acute undifferentiated fever at the emergency/outpatient pediatric unit of a secondary healthcare facility. Baseline clinical and laboratory information was obtained and documented in a structured questionnaire. We compared baseline characteristics between participants with bacteremia and those without bacteremia. We further fitted …


A Taxonomy Of Childhood Pedal Cyclist Injuries From Latent Class Analysis: Associations With Factors Pertinent To Prevention, Joseph Piatt Jan 2022

A Taxonomy Of Childhood Pedal Cyclist Injuries From Latent Class Analysis: Associations With Factors Pertinent To Prevention, Joseph Piatt

Department of Neurosurgery Faculty Papers

Background: Studies of pedal cyclist injuries have largely focused on individual injury categories, but every region of the cyclist's body is exposed to potential trauma. Real-world injury patterns can be complex, and isolated injuries to one body part are uncommon among casualties requiring hospitalization. Latent class analysis (LCA) may identify important patterns in heterogeneous samples of qualitative data.

Methods: Data were taken from the Trauma Quality Improvement Program of the American College of Surgeons for 2017. Inclusion criteria were age 18 years or less and an external cause of injury code for pedal cyclist. Injuries were characterized by Abbreviated Injury …