Tumor Necrosis Factor α Increases Neuronal Vulnerability to Excitotoxic Necrosis by Inducing Expression of the AMPA–Glutamate Receptor Subunit GluR1 via an Acid Sphingomyelinase- a... by ZaiFang Yu, Guanjun Cheng, Xiaoming Wen, Gary D. Wu, Wang-Tso Lee, David Pleasure

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Synthetic patch infection after congenital diaphragmatic hernia repair: A case series by Sabrina J. Flohr, Sierra D. Land, Holly L. Hedrick, Natalie E. Rintoul, Sanjeev K. Swami, Dustin D. Flannery

“…This case series reviews ten patients cared for at the Children's Hospital of Philadelphia from 1996 to 2022 who underwent neonatal CDH repair with a synthetic patch and were subsequently diagnosed with suspected or confirmed patch infection, and proposes definitions for suspected and confirmed CDH patch infection to inform both current clinical care as well as future research on outcomes after CDH repair.…”
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P386: Agenesis of olfactory apparatus due to intragenic deletion of SIN3A and MAN2C1 resulting in Witteveen-Kolk syndrome by Sarah Donoghue, Cara Skraban, Jake Squicciarini, Jing Wang, Alyssa Rippert, Donna McDonald-McGinn, Elaine Zackai

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Congenital diaphragmatic hernia and complete tracheal rings: Repair on ECMO by Sasha J. Tharakan, Natalie E. Rintoul, Luv R. Javia, Christopher E. Mascio, James T. Connelly, Kha M. Tran, William H. Peranteau, Anne Ades, N. Scott Adzick, Holly L. Hedrick

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Automated Cmr-based Measurements Are Predictive of Pulmonic Valve Replacement in Repaired Tetralogy of Fallot by Elizabeth Thompson, BSc, Jin-seo Kim, Abhijit Bhattaru, Phuong Vu, BSc, Sophia Swago, Elizabeth Donnelly, BSc, Xuemei zhang, BSc, Lipika Vuthuri, Kristen Lanzilotta, Annefleur Loth, Kevin Whitehead, MD, PhD, Jeffrey Duda, PhD, James Gee, Laura Almasy, Elizabeth Goldmuntz, Mark Fogel, Walter Witschey, PhD

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A Review of Tertiary Referrals for Management of Pediatric Esophageal Eosinophilia by Bridget Godwin, Bridget Godwin, Chris Liacouras, Vijay Mehta, Joshua Eisenberg, Atu Agawu, Terri Brown-Whitehorn, Terri Brown-Whitehorn, Melanie A. Ruffner, Melanie A. Ruffner, Ritu Verma, Ritu Verma, Antonella Cianferoni, Antonella Cianferoni, Jonathan M. Spergel, Jonathan M. Spergel, Amanda B. Muir, Amanda B. Muir

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BRANCHED-CHAIN AMINO ACID TRANSAMINASE-1 (BCAT1) INVOLVEMENT IN NEURODEGENERATION: NEW INSIGHTS AND THERAPEUTIC IMPLICATIONS by Brianna Disanza, Rajesh Angireddy, Emma Welter, Guy Helman, Cas Simons, Ryan Taft, Adeline Vanderver, Elizabeth Bhoj, Rebecca Ahrens-Nicklas

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P151: Enhancing understanding of SCN1A-related disorders through phenotype harmonization* by Anna Prentice, Stacey Cohen, Sarah McKeown, Jan Magielski, Arjun Pillai, Michael Kaufman, Laura Conway, Ingo Helbig

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P401: Patients from historically marginalized backgrounds are referred to clinical genetics at lower rates in a large academic health system by Jessica Priestley, Ian Campbell, Paula Roig Opio, Rebecca Ganetzky, Francis Jeshira Reynoso Santos, George Dalembert

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CAMKV Is a Candidate Immunotherapeutic Target in MYCN Amplified Neuroblastoma by Robyn T. Sussman, Jo Lynne Rokita, Jo Lynne Rokita, Kevin Huang, Pichai Raman, Pichai Raman, Komal S. Rathi, Komal S. Rathi, Daniel Martinez, Kristopher R. Bosse, Kristopher R. Bosse, Maria Lane, Lori S. Hart, Tricia Bhatti, Bruce Pawel, John M. Maris, John M. Maris

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Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study by Jillian L McKee, MD, Michael C Kaufman, MS, Alexander K Gonzalez, MS, Mark P Fitzgerald, MD, Shavonne L Massey, MD, France Fung, MD, Sudha K Kessler, MD, Stephanie Witzman, BA, Nicholas S Abend, ProfMD, Ingo Helbig, MD

“…Funding: Children's Hospital of Philadelphia, the Hartwell Foundation, the National Institute of Neurological Disorders and Stroke, and the Wolfson Foundation.…”
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Stakeholder outcome prioritization in the Biologic Abatement and Capturing Kids' Outcomes and Flare Frequency in Juvenile Spondyloarthritis (BACK‐OFF JSpA) trial by Emily Neu, Cora Sears, Timothy Brandon, Melanie Kohlheim, Jenny Leal, Kweli Archie, English Holland, Miles Holland, Aamena Hameed, Asad Khan, Lynn Murphy, Sean Murphy, Antoinette Neu, Jerome Neu, Justin Neu, Rachel Richmond, Dylan Suplee, Theresa Suplee, Christopher B. Forrest, Pamela F. Weiss

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Indigenous peoples and inclusion in clinical and genomic research: Understanding the history and navigating contemporary engagement by Angela Waanders, Alex Brown, Nadine R. Caron, Alexa Plisiewicz, Sean T. McHugh, Thinh Q. Nguyen, Kaitlin Lehmann, Jeffrey Stevens, Phillip J. Storm, Adam Resnick, Tom Belle Davidson, Sabine Mueller, Cassie Kline

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Commentary: Intraoperative hemorrhage in Fontan transplantation—a common and potentially modifiable challenge?Central Message by Danielle S. Burstein, MD, Carol Wittlieb-Weber, MD, Katsumeda Maeda, MD, PhD, Joseph Rossano, MD

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GATA6 Plays an Important Role in the Induction of Human Definitive Endoderm, Development of the Pancreas, and Functionality of Pancreatic β Cells by Amita Tiyaboonchai, Fabian L. Cardenas-Diaz, Lei Ying, Jean Ann Maguire, Xiuli Sim, Chintan Jobaliya, Alyssa L. Gagne, Siddharth Kishore, Diana E. Stanescu, Nkecha Hughes, Diva D. De Leon, Deborah L. French, Paul Gadue

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Neonatal sepsis registry: Time to antibiotic dataset by Svetlana Ostapenko, Melissa Schmatz, Lakshmi Srinivasan, Okan U. Elci, Scott L. Weiss, Aaron J. Masino, Marissa Tremoglie, Mary Catherine Harris, Robert W. Grundmeier

“…The de-identified data that accompanies this article were collected from a cohort of infants who were evaluated for possible sepsis in the Neonatal Intensive Care Unit (NICU) at the Children's Hospital of Philadelphia (CHOP). The interpretation of findings from these data are reported in a separate manuscript [1]. …”
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P607: Prenatal presentation of Baraitser-Winter syndrome: A new lymphatic multiple congenital anomaly syndrome by Natalie Burrill, Nahla Khalek, Edward Oliver, Renee DiCicco, Julie Moldenhauer

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SARS-CoV-2 mitochondrial metabolic and epigenomic reprogramming in COVID-19 by Joseph W. Guarnieri, Jeffrey A. Haltom, Yentli E. Soto Albrecht, Timothy Lie, Arnold Z. Olali, Gabrielle A. Widjaja, Sujata S. Ranshing, Alessia Angelin, Deborah Murdock, Douglas C. Wallace

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P178: Longitudinal neurodevelopmental and medical outcomes in patients with molecularly confirmed RASopathies by Alyssa Rippert, Edward Cook, Divya Nair, Rebecca Reef, Rebecca Ahrens-Nicklas

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Heterogeneous GABAA receptor subunit expression in pediatric epilepsy patients by Brenda E. Porter, Guojun Zhang, Juanita Celix, Fu-chun Hsu, YogendraSinh H. Raol, Albert Telfeian, Paul R. Gallagher, Douglas A. Coulter, Amy R. Brooks-Kayal

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