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Articles 1 - 30 of 99

Full-Text Articles in Pediatrics

Regulation Of Insm1 Gene Expression And Neuroendocrine Differentiation In High-Risk Neuroblastoma, Chiachen Chen, Siyuan Cheng, Xiuping Yu, Yisheng Lee, Michael S. Lan Dec 2025

Regulation Of Insm1 Gene Expression And Neuroendocrine Differentiation In High-Risk Neuroblastoma, Chiachen Chen, Siyuan Cheng, Xiuping Yu, Yisheng Lee, Michael S. Lan

School of Graduate Studies Faculty Publications

Neuroblastoma (NB), a pediatric cancer of sympatho-adrenal (SA) lineage, is marked by disrupted differentiation and cellular heterogeneity. INSM1, a zinc-finger transcription factor, is highly expressed in NB and developing SA tissues, where it regulates neuroendocrine differentiation, especially in chromaffin cells. We investigated INSM1's role in maintaining an undifferentiated, progenitor-like state in NB and its regulation via metabolic and epigenetic mechanisms. Transcriptomic profiling, promoter assays, and metabolic flux analysis revealed that INSM1 expression correlates with methionine cycle activity, particularly the S-adenosylmethionine (SAM)/S-adenosylhomocysteine (SAH) ratio. Disruption of SAM/SAH balance altered INSM1 promoter activity and histone methylation, implicating epigenetic control in NB cell …

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A Week-Long Departmental Scholarship Curriculum For Pediatric Subspecialty Fellows, Amy Creel, Amanda Messer, Robin English Nov 2025

A Week-Long Departmental Scholarship Curriculum For Pediatric Subspecialty Fellows, Amy Creel, Amanda Messer, Robin English

School of Medicine Faculty Publications

BACKGROUND: Scholarly activity is a key requirement in pediatric subspecialty fellowship training. However, clear guidance on how to effectively support fellows in their scholarly endeavors remains limited. OBJECTIVE: This study assesses the impact of a week-long departmental scholarship curriculum designed to enhance fellows' research competencies. METHODS: In 2024, a curriculum was designed and delivered to first-year pediatric subspecialty fellows over 5 days, combining group learning sessions with individualized tasks. Pre- and post-curriculum surveys assessed fellows' confidence and knowledge across key scholarly domains. Daily session evaluations provided additional feedback. Fourteen fellows from 9 pediatric subspecialty programs participated. RESULTS: All first-year fellows …

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Severe Myocarditis In The Pediatric Patient: A Simulation For Emergency Department Management, Prayerna Uppal, Anita Thomas, Robyn Wing, Lauren Kinneman, Cassandra Koid Jia Shin, Daisy Ciener, Jean I. Pearce, Claire Smith, Jennifer Reid, Kimberly Stone, Katina Summerford, Katherine Wolpert Nov 2025

Severe Myocarditis In The Pediatric Patient: A Simulation For Emergency Department Management, Prayerna Uppal, Anita Thomas, Robyn Wing, Lauren Kinneman, Cassandra Koid Jia Shin, Daisy Ciener, Jean I. Pearce, Claire Smith, Jennifer Reid, Kimberly Stone, Katina Summerford, Katherine Wolpert

School of Medicine Faculty Publications

Myocarditis in a pediatric patient can present with a variety of signs and symptoms, leading to a broad differential diagnosis. Delays in the correct identification of myocarditis and the initiation of appropriate interventions can have a detrimental impact on patient outcomes. In this case, a simulated five-year-old patient with myocarditis and secondary cardiogenic shock presents to the emergency department (ED). The goals of this simulation curriculum were to familiarize trainees and ED providers with the often nonspecific presentation of pediatric myocarditis, educate the care team about crucial interventions that positively or negatively impact the patient's stabilization course, and reinforce the …

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Antibiotic Stewardship In Pediatric Head And Neck Surgery, Mary Grace Robichaux, Zhide Fang, Jill N. D'Souza Sep 2025

Antibiotic Stewardship In Pediatric Head And Neck Surgery, Mary Grace Robichaux, Zhide Fang, Jill N. D'Souza

School of Medicine Faculty Publications

OBJECTIVE: This study seeks to determine the rate of postoperative surgical site infections (SSI) among clean head and neck surgeries and review perioperative antibiotic administration practices. STUDY DESIGN: Retrospective review. SETTING: Pediatric tertiary care institution in New Orleans over a ten-year period. METHODS: A retrospective review was undertaken to identify clean head and neck surgical procedures performed at Manning Family Children's between 2013 and 2023. EPIC SlicerDicer™ was used to identify patients between ages 0-18 who underwent clean head and neck surgeries. Each chart was reviewed for perioperative antibiotic administration and occurrence of postoperative SSI. Rates of SSI were compared …

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Food Insecurity, Diet And Health Outcomes In Pediatric Inflammatory Bowel Disease: A Pilot Study, Nicole Zeky, Alysse Baudier, Colleen Leblanc, Elizabeth Mcdonough, Sarah A. Dumas, Dedrick Moulton Aug 2025

Food Insecurity, Diet And Health Outcomes In Pediatric Inflammatory Bowel Disease: A Pilot Study, Nicole Zeky, Alysse Baudier, Colleen Leblanc, Elizabeth Mcdonough, Sarah A. Dumas, Dedrick Moulton

School of Medicine Faculty Publications

Background/Objectives: Food insecurity (FI) is a well-defined factor in pediatric health outcomes and has been associated with lower diet quality. While poor diet quality has been linked to the rising prevalence of inflammatory bowel disease (IBD), little is known about the impact of FI on pediatric IBD. This pilot study explores the feasibility and potential impact of FI on dietary intake and clinical outcomes in children with newly diagnosed IBD. Methods: This pilot study included newly diagnosed IBD patients aged 5 to 18. FI screening was completed using the USDA 6-item and AAP 2-item screeners at diagnosis and 6 months. …

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Anti-Inflammatory Diet And Probiotic Supplementation As Strategies To Modulate Immune Dysregulation In Autism Spectrum Disorder, Carlos Andrés Naranjo-Galvis, Diana María Trejos-Gallego, Cristina Correa-Salazar, Jessica Triviño-Valencia, Marysol Valencia-Buitrago, Andrés Felipe Ruiz-Pulecio, Luisa Fernanda Méndez-Ramírez, Jovanny Zabaleta, Miguel Andres Meñaca-Puentes, Carlos Alberto Ruiz-Villa, Marcela Orjuela-Rodriguez, Juan Carlos Carmona-Hernández, Luisa Matilde Salamanca-Duque Aug 2025

Anti-Inflammatory Diet And Probiotic Supplementation As Strategies To Modulate Immune Dysregulation In Autism Spectrum Disorder, Carlos Andrés Naranjo-Galvis, Diana María Trejos-Gallego, Cristina Correa-Salazar, Jessica Triviño-Valencia, Marysol Valencia-Buitrago, Andrés Felipe Ruiz-Pulecio, Luisa Fernanda Méndez-Ramírez, Jovanny Zabaleta, Miguel Andres Meñaca-Puentes, Carlos Alberto Ruiz-Villa, Marcela Orjuela-Rodriguez, Juan Carlos Carmona-Hernández, Luisa Matilde Salamanca-Duque

School of Medicine Faculty Publications

Background/Objectives: Autism spectrum disorder (ASD) is a neurodevelopmental condition associated with behavioral and cognitive impairments. Increasing evidence also links ASD with systemic immune dysregulation, including abnormal cytokine profiles and chronic low-grade inflammation. Emerging evidence suggests that targeted dietary strategies and probiotic supplementation may modulate immune responses and gut–brain interactions in patients with ASD. This study aimed to evaluate the immunomodulatory effects of a structured anti-inflammatory diet (NeuroGutPlus) compared to multi-strain probiotics in children with ASD. NeuroGutPlus is a nutritionally complete anti-inflammatory dietary protocol that targets gut integrity, inflammation, and mitochondrial function. It includes a diet low in gluten, FODMAPs, casein, …

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Effectiveness And Safety Of Abobotulinumtoxina In Pediatric Lower Limb Spasticity: A Phase Iv, Prospective, Observational, Multicenter Study, Mark E. Gormley, Edward Dabrowski, Mauricio R. Delgado, Ann Tilton, Asare Christian, Sarah Helen Evans, Anne-Sophie Grandoulier, Jumaah Goldberg Jul 2025

Effectiveness And Safety Of Abobotulinumtoxina In Pediatric Lower Limb Spasticity: A Phase Iv, Prospective, Observational, Multicenter Study, Mark E. Gormley, Edward Dabrowski, Mauricio R. Delgado, Ann Tilton, Asare Christian, Sarah Helen Evans, Anne-Sophie Grandoulier, Jumaah Goldberg

School of Medicine Faculty Publications

Aim: To assess the longitudinal attainment of patient-centered, function-related Goal Attainment Scaling Total (GAS T)-score after repeated abobotulinumtoxinA (AboBoNT-A) injections over a period of up to 30 months and up to 10 cycles. Method: In this prospective observational study, the investigators' clinical practices recruited patients aged 2 to 17 years with pediatric lower limb spasticity (PLLS). GAS T-scores were assessed for each injection, and goals could be redefined at each visit; scores of 50 reflected goal achievement. Adverse events were recorded. Results: Of 210 patients in the effectiveness population, 171 had cerebral palsy and 163 were previously treated with a …

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Factors Associated With Self-Report Symptom Screening Adherence In Pediatric Cancer Patients, L. Lee Dupuis, Emily Vettese, Catherine Aftandilian, Vibhuti Agarwal, Christina Baggott, Scott M. Bradfield, Nicole Crellin-Parsons, David R. Freyer, Kara M. Kelly, Allison A. King, Wade Kyono, Ramamoorthy Nagasubramanian, Etan Orgel, Michael E. Roth, Farha Sherani, Lolie Yu, Allison C. Grimes, Melissa P. Beauchemin, Lisa M. Klesges, George A. Tomlinson, Lillian Sung Jul 2025

Factors Associated With Self-Report Symptom Screening Adherence In Pediatric Cancer Patients, L. Lee Dupuis, Emily Vettese, Catherine Aftandilian, Vibhuti Agarwal, Christina Baggott, Scott M. Bradfield, Nicole Crellin-Parsons, David R. Freyer, Kara M. Kelly, Allison A. King, Wade Kyono, Ramamoorthy Nagasubramanian, Etan Orgel, Michael E. Roth, Farha Sherani, Lolie Yu, Allison C. Grimes, Melissa P. Beauchemin, Lisa M. Klesges, George A. Tomlinson, Lillian Sung

School of Medicine Faculty Publications

Introduction: Objective was to describe the association between baseline characteristics and the number of Symptom Screening in Pediatrics Tool (SSPedi) assessments completed over an 8-week period. Methods: This was a sub-analysis of a cluster randomized controlled trial among 10 sites that were randomized to the intervention group. Participants were English- or Spanish-speaking pediatric patients 8–18 years of age newly diagnosed with cancer. Participants were prompted to complete SSPedi three times weekly for 8 weeks. The outcome was the number of SSPedi assessments completed during the 8-week period. Factors associated with the number of assessments were determined using mixed effects Poisson …

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Vibration-Based Detection For The Monitoring Of Neonatal Bcpap Respiratory Support To Minimize Duration Of Disconnections, Kaitlyn G. Calabresi, Meera R. Bhat, Lavinia L. Kong, Eli J. Foster, Jonathan Wang, Sangeeta Koilada, Angela Mak, Aastha Kapadia, Niam Mohseni, W. Keith Leung, Suneetha Desiraju, Constanza Miranda Jul 2025

Vibration-Based Detection For The Monitoring Of Neonatal Bcpap Respiratory Support To Minimize Duration Of Disconnections, Kaitlyn G. Calabresi, Meera R. Bhat, Lavinia L. Kong, Eli J. Foster, Jonathan Wang, Sangeeta Koilada, Angela Mak, Aastha Kapadia, Niam Mohseni, W. Keith Leung, Suneetha Desiraju, Constanza Miranda

School of Medicine Faculty Publications

Bubble continuous positive airway pressure (bCPAP) is a minimally invasive respiratory support for neonates experiencing respiratory distress syndrome (RDS). It exerts continuous, oscillatory air pressure to encourage lung function and development. Neonates’ movement may cause disconnections at the nasal interface. These disconnections are characterized by the cessation of bubbling at the bCPAP respiratory circuit output and frequently go unnoticed until hypoxia develops. Common Neonatal Intensive Care Unit (NICU) bCPAP systems lack a built-in alarm or accessory device to monitor for disconnections. As a result, nursing personnel must exercise extreme caution utilizing current bCPAP procedure. If a neonate is disconnected, it …

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Adolescent Scoliosis In Autism Spectrum Disorder: Is It Idiopathic Or Syndromic??, Ravi Rajendra, Matthew B. Bratton, Claudia Leonardi, R. Carter Clement Jun 2025

Adolescent Scoliosis In Autism Spectrum Disorder: Is It Idiopathic Or Syndromic??, Ravi Rajendra, Matthew B. Bratton, Claudia Leonardi, R. Carter Clement

School of Medicine Faculty Publications

Purpose: Minimal data exists on whether adolescents with both autism spectrum disorder (ASD) and scoliosis exhibit distinct curve types or require varying surgical management compared to neurotypical adolescents. Our study at a high-volume scoliosis center compares patterns of scoliosis in ASD patients with those of neurotypical patients. We hypothesized adolescents with ASD would present with atypical scoliosis curve characteristics compared to neurotypical adolescents. Methods: Using ICD-10 codes, we constructed an electronic database of adolescents aged 10 to 18 with diagnoses of both scoliosis and ASD. To avoid confounding with syndromic conditions, adolescents with a syndrome independently associated with scoliosis were …

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Childhood Gastroesophageal Reflux Disease: A Comprehensive Review Of Disease, Diagnosis, And Therapeutic Management, Daniyal Raza, Farhan Mohiuddin, Muhammad Haris Khan, Maheen Fawad, Syed Musa Raza Jun 2025

Childhood Gastroesophageal Reflux Disease: A Comprehensive Review Of Disease, Diagnosis, And Therapeutic Management, Daniyal Raza, Farhan Mohiuddin, Muhammad Haris Khan, Maheen Fawad, Syed Musa Raza

School of Medicine Faculty Publications

Gastroesophageal reflux disease (GERD) affects both adults and children, although the symptoms differ significantly between these groups. While adults typically experience heartburn and regurgitation, children may present with more subtle signs, such as failure to thrive, chronic cough, wheezing, and Sandifer syndrome. Diagnosing GERD in children necessitates a multifaceted approach due to the diverse symptomatology and challenges in communication. Clinical assessment serves as the cornerstone of diagnosis, supported by tools like pH monitoring, esophageal impedance testing, and upper gastrointestinal endoscopy. Imaging studies, such as barium swallow, can also provide valuable insights into anatomical abnormalities and the extent of reflux. Treatment …

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American Society Of Hematology/International Society On Thrombosis And Haemostasis 2024 Updated Guidelines For Treatment Of Venous Thromboembolism In Pediatric Patients, Paul Monagle, Muayad Azzam, Rachel Bercovitz, Marisol Betensky, Rukhmi Bhat, Tina Biss, Brian Branchford, Leonardo R. Brandão, Anthony K.C. Chan, Vincent E.S. Faustino, Julie Jaffray, Sophie Jones, Hassan Kawtharany, Bryce A. Kerlin, Nicole Kucine, Riten Kumar, Christoph Male, Marie Claude Pelland-Marcotte, Leslie Raffini, Chittalsinh Raulji, Sarah E. Sartain, Clifford M. Takemoto, Cristina Tarango, C. Heleen Van Ommen, Maria C. Velez, Sara K. Vesely, John Wiernikowski, Suzan Williams, Hope P. Wilson, Et Al May 2025

American Society Of Hematology/International Society On Thrombosis And Haemostasis 2024 Updated Guidelines For Treatment Of Venous Thromboembolism In Pediatric Patients, Paul Monagle, Muayad Azzam, Rachel Bercovitz, Marisol Betensky, Rukhmi Bhat, Tina Biss, Brian Branchford, Leonardo R. Brandão, Anthony K.C. Chan, Vincent E.S. Faustino, Julie Jaffray, Sophie Jones, Hassan Kawtharany, Bryce A. Kerlin, Nicole Kucine, Riten Kumar, Christoph Male, Marie Claude Pelland-Marcotte, Leslie Raffini, Chittalsinh Raulji, Sarah E. Sartain, Clifford M. Takemoto, Cristina Tarango, C. Heleen Van Ommen, Maria C. Velez, Sara K. Vesely, John Wiernikowski, Suzan Williams, Hope P. Wilson, Et Al

School of Medicine Faculty Publications

Background: The American Society of Hematology (ASH) guidelines on treatment of pediatric venous thromboembolism (VTE) were published in 2018. In the last 6 years, there has been a 10-fold increase in the number of children involved in VTE treatment trials. Objective: The ASH Committee on Quality and Guidelines agreed to update the pediatric guidelines in conjunction with the International Society on Thrombosis and Haemostasis (ISTH). These ASH/ISTH evidence-based guidelines are intended to support patients, clinicians, and other health care professionals in the management of pediatric patients with VTE. Methods: ASH/ISTH formed a multidisciplinary guideline panel to minimize potential bias from …

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Reducing Surgery For Pediatric Posttonsillectomy Hemorrhage Using Tranexamic Acid: A Quality Improvement Initiative, Laura A. Petrauskas, Janavi Sethurathnam, Ansley J. Kunnath, Rahul K. Sharma, John Ceremsak, Ryan H. Belcher, James D. Phillips, Jay A. Werkhaven, Amy S. Whigham, Lyndy J. Wilcox, Christopher T. Wootten, Frank W. Virgin, Jason S. Park May 2025

Reducing Surgery For Pediatric Posttonsillectomy Hemorrhage Using Tranexamic Acid: A Quality Improvement Initiative, Laura A. Petrauskas, Janavi Sethurathnam, Ansley J. Kunnath, Rahul K. Sharma, John Ceremsak, Ryan H. Belcher, James D. Phillips, Jay A. Werkhaven, Amy S. Whigham, Lyndy J. Wilcox, Christopher T. Wootten, Frank W. Virgin, Jason S. Park

School of Medicine Faculty Publications

Objective: Evaluate the use of tranexamic acid (TXA) and observation as a management option for pediatric patients presenting with posttonsillectomy hemorrhage (PTH). Study Design: Retrospective analysis of a prospectively implemented quality improvement initiative with a historical control comparison group. Setting: Tertiary children's hospital. Methods: Patients < 18 years of age who underwent adenotonsillectomy (AT) and returned to the Emergency Department for PTH were included. Patients who were stable without large volume or active bleeding were given intravenous TXA and admitted for overnight observation. Data were compared in a before-and-after analysis: preprotocol (April 2022 to March 2023) versus postprotocol (April 2023 to March 2024). For cost-effectiveness analysis, we analyzed aggregated claims data from a commercial claims database. Results: Preprotocol 1800 adenotonsillectomies were performed, and 40 procedures were performed for control of hemorrhage (2.2 per 100 AT). Postprotocol 2356 adenotonsillectomies were performed, and 30 procedures were performed to control hemorrhage (1.3 per 100 AT) showing a significant reduction in return to the operating room (relative risk [RR] = 0.59, 95% confidence interval [CI] [0.358, 0.916], P-value.020). There were no reported adverse events attributable to TXA. An estimated 21 surgeries were avoided, and 26 additional patients were observed in the hospital during the postprotocol period, for an estimated net cost savings of $174,970. Conclusion: The implementation of a standardized TXA protocol significantly reduced the need for return to the operating room for PTH in pediatric patients, without complications and with net cost savings to the health care system.

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Rethinking Congenital Cytomegalovirus: A Narrative Review Of The Clinical, Public Health, And Ethical Challenges Of A Preventable Cause Of Childhood Hearing Loss, M. Peyton Simons, Gauri Mankekar May 2025

Rethinking Congenital Cytomegalovirus: A Narrative Review Of The Clinical, Public Health, And Ethical Challenges Of A Preventable Cause Of Childhood Hearing Loss, M. Peyton Simons, Gauri Mankekar

School of Medicine Faculty Publications

Congenital cytomegalovirus (cCMV) is the most common non-genetic cause of pediatric sensorineural hearing loss, affecting approximately tens of thousands of infants annually in the United States. While cCMV may present symptomatically at birth, many infants are asymptomatic initially and later develop progressive or fluctuating hearing loss, which is often undiagnosed without early screening. Despite advances in diagnostic methods such as polymerase chain reaction (PCR) testing, the absence of a national screening policy in the U.S. results in significant variability in early detection and follow-up care. This narrative review provides an overview of the clinical manifestations, diagnostic strategies, and treatment options …

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Assessments Of Social Vulnerability On Laryngeal Cancer Treatment & Prognosis In The Us: Epidemiology, David J. Fei-Zhang, Camaren M. Cuenca, Angela D. Haskins, Andrew P. Stein, David G. Lott, Urjeet A. Patel, Stephanie S. Smith, Amy L. Dimachkieh, Nosayaba Osazuwa-Peters, Jill N. D’Souza, Anthony M. Sheyn, Jeffrey C. Rastatter, Daniel C. Chelius May 2025

Assessments Of Social Vulnerability On Laryngeal Cancer Treatment & Prognosis In The Us: Epidemiology, David J. Fei-Zhang, Camaren M. Cuenca, Angela D. Haskins, Andrew P. Stein, David G. Lott, Urjeet A. Patel, Stephanie S. Smith, Amy L. Dimachkieh, Nosayaba Osazuwa-Peters, Jill N. D’Souza, Anthony M. Sheyn, Jeffrey C. Rastatter, Daniel C. Chelius

School of Medicine Faculty Publications

Background: Previous social determinants of health (SDoH) studies on laryngeal cancer (LC) have assessed individual factors of socioeconomic status and race/ethnicity but seldom investigate a wider breadth of SDoH-factors for their effects in the real-world. This study aims to delineate how a wider array of SDoH-vulnerabilities interactively associates with LC-disparities. Methods: This retrospective cohort study assessed 74,495 LC-patients between 1975 and 2017 from the Surveillance-Epidemiology-End Results (SEER) database using the Social Vulnerability Index (SVI) from the CDC, total SDoH-vulnerability from 15 SDoH variables across specific vulnerabilities of socioeconomic status, minority-language status, household composition, and infrastructure/housing and transportation, which were measured …

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Characteristics Of Pediatric Patients With Sports-Related Concussions: A Single Site Retrospective Review, Jose A. Cruz Ayala, Shahrukh Khan, Holly Monk, Emma Cole, Alison Smith, Scott Schultz, Lindsay Elliott, Jessica Zagory May 2025

Characteristics Of Pediatric Patients With Sports-Related Concussions: A Single Site Retrospective Review, Jose A. Cruz Ayala, Shahrukh Khan, Holly Monk, Emma Cole, Alison Smith, Scott Schultz, Lindsay Elliott, Jessica Zagory

School of Medicine Faculty Publications

PURPOSE: Sports-related concussion (SRC) cases have increased among children in the last decade. Differences in concussion symptoms, presentation, and follow-up care exist when comparing demographics. The aim of this study was to explore SRC within the pediatric population. METHODS: A retrospective chart review of patients ≤ 18 years old diagnosed with SRC at a New Orleans stand-alone children's hospital from January 2007 to December 2021 was performed. T-test and Fisher's exact test were used for relationship between outcomes and sports, demographics, setting, insurance, and follow-up care. RESULTS: Children who sustained SRC at practice were more likely to be male (p …

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A Systematic Review Of Neutrophilic Alopecias Of The Scalp In The Pediatric Population, Nesreen Shahrour, Layan Shahrour, Rahib K. Islam, Yoseph Dalia May 2025

A Systematic Review Of Neutrophilic Alopecias Of The Scalp In The Pediatric Population, Nesreen Shahrour, Layan Shahrour, Rahib K. Islam, Yoseph Dalia

School of Medicine Faculty Publications

Neutrophilic alopecias of the scalp - including dissecting cellulitis of the scalp, folliculitis decalvans, and Acne Keloidalis Nuchae - are rare, scarring, inflammatory disorders with overlapping clinical and histopathologic features that present unique diagnostic and therapeutic challenges in pediatric populations. This systematic review synthesizes findings from 35 eligible studies identified through a search of Medical Literature Analysis and Retrieval System Online, Excerpta Medica Database, Central Cochrane Medical Database, Cumulative Index to Nursing and Allied Health Literature, and Web of Science, focusing on treatment modalities and outcomes in children. Patients with dissecting cellulitis of the scalp often present with erythematous, tender …

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Biallelic Fgf4 Variants Linked To Thoracic Dystrophy And Respiratory Insufficiency, Laura M. Watts, Esther Kinning, Donald R. Latner, Marla Johnston, Jessica Patrick-Esteve, Gregory M. Cooper, Stephen R.F. Twigg, Alistair T. Pagnamenta, Jenny C. Taylor Apr 2025

Biallelic Fgf4 Variants Linked To Thoracic Dystrophy And Respiratory Insufficiency, Laura M. Watts, Esther Kinning, Donald R. Latner, Marla Johnston, Jessica Patrick-Esteve, Gregory M. Cooper, Stephen R.F. Twigg, Alistair T. Pagnamenta, Jenny C. Taylor

School of Medicine Faculty Publications

The thoracic dystrophies are inherited skeletal conditions where abnormal embryonic development of the thoracic skeleton results in a narrow chest, pulmonary hypoplasia, and respiratory insufficiency, which can be severe or lethal. The majority of thoracic dystrophies are due to biallelic alterations in genes needed for normal ciliary function. However, despite the identification of over 20 genes as causal for the thoracic dystrophy phenotype, around 20% of patients remain without a molecular diagnosis. We present two unrelated families with a clinical diagnosis of thoracic dystrophy with associated respiratory insufficiency without a molecular diagnosis on previous genetic testing. Both harbor rare biallelic …

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The Impact Of Digital Inequities On Oropharyngeal Cancer Disparities In The United States, David J. Fei-Zhang, Achilles A. Kanaris, Camaren M. Cuenca, Sydney A. Fleishman, Jill N. D'Souza, Anthony M. Sheyn, Daniel C. Chelius, Jeffrey C. Rastatter Apr 2025

The Impact Of Digital Inequities On Oropharyngeal Cancer Disparities In The United States, David J. Fei-Zhang, Achilles A. Kanaris, Camaren M. Cuenca, Sydney A. Fleishman, Jill N. D'Souza, Anthony M. Sheyn, Daniel C. Chelius, Jeffrey C. Rastatter

School of Medicine Faculty Publications

Objective: To assess associations of digital inequity with oropharyngeal cancer (OPC) prognostic and care outcomes in the United States while adjusting for traditional social determinants/drivers of health (SDoH). Study Design: Retrospective cohort study. Setting: United States. Methods: In total, 70,604 patients from 2008 to 2017 were assessed for regression trends in long-term follow-up period, survival, prognosis, and treatment across increasing overall digital inequity, as measured by the Digital Inequity Index (DII). DII is based on 17 census-tract level variables derived from the American Community Survey and Federal Communications Commission. Variables were categorized as infrastructure-access (ie, digital-related variables) or sociodemographic (ie, …

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Markers Of Growth And Nutrition In Children With Acquired Chylothorax Post Chd Surgery, Kevin N. Marzotto, Karin R. Videlefsky, Meghan P. Howell, Thomas R. Kimball, Frank A. Pigula, Kurt D. Piggott Mar 2025

Markers Of Growth And Nutrition In Children With Acquired Chylothorax Post Chd Surgery, Kevin N. Marzotto, Karin R. Videlefsky, Meghan P. Howell, Thomas R. Kimball, Frank A. Pigula, Kurt D. Piggott

School of Medicine Faculty Publications

Background: Acquired chylothorax is an established complication of CHD surgery, affecting 2-9% of patients. CHD places a child at risk for failure to thrive, with subsequent chylothorax imposing additional risk. Objective: We conducted a retrospective chart review to ascertain quantitative markers of nutrition and growth in children affected by chylothorax following CHD surgery between 2018 and 2022 compared to controls. Methods: We utilised electronic medical record system, EPIC, at Children's Hospital, New Orleans, targeting subjects < 18 years old who underwent CHD surgery between 2018 and 2022 and developed a subsequent chylothorax. Study subjects were identified using the 10th revision of the International Classification of Diseases codes (ICD-10 codes: J94.0, I89.8, and J90.0). Each chylothorax case (n = 20) was matched by procedure type and age to a control with no chylothorax (n = 20). Data were recorded in REDCap and analysed using SPSS. Results: After removal of outliers, we analysed 19 total matched pairs. There was no statistical difference in growth velocity (p = 0.12), weight change (operation to discharge) (p = 0.95), weight change (admission to discharge) (p = 0.35), Z-score change (operation to discharge) (p = 0.90), Z-score change (admission to discharge) (p = 0.21), serum protein (p = 0.88), or serum albumin (p = 0.82). Among cases, linear regression demonstrated no significant association between maximum chylous output and growth velocity (p = 0.91), weight change (operation to discharge) (p = 0.15), or weight change (admission to discharge) (p = 0.98). Conclusions: We did not observe statistically significant markers of growth or nutrition in children with chylothorax post-CHD surgery compared to those without chylothorax. Multisite data collection and analysis is required to better ascertain clinical impact and guide clinical practice.

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Early Childhood Caries And Associated Risk Factors Among Preschool Children In Southeast Iran, Homa Kamyabi, Parisa Kalantari, Azadeh Horri, Fereshteh Abbasi, Mahsa Kalantari Feb 2025

Early Childhood Caries And Associated Risk Factors Among Preschool Children In Southeast Iran, Homa Kamyabi, Parisa Kalantari, Azadeh Horri, Fereshteh Abbasi, Mahsa Kalantari

School of Public Health Faculty Publications

Objective: To determine the prevalence of ECC and evaluate its association with possible risk factors in a group of preschool children in Kerman, Iran. Material and Methods: This cross-sectional study was conducted in Kerman on healthy preschool children (up to 6 years old) in June and October 2021. The children were randomly selected from kindergartens using a clustered sampling method, and their height, weight, dental caries, and occlusion were evaluated. Parents completed a questionnaire assessing feeding habits (breast/bottle feeding) and oral habits during the first two years of life. Data were analyzed by logistic regression and chi-squared test using SPSS …

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A Guide To Diagnosis And Management Of Hypertrichosis, Rahib K. Islam, Victoria T. Tong, Shari R. Lipner Jan 2025

A Guide To Diagnosis And Management Of Hypertrichosis, Rahib K. Islam, Victoria T. Tong, Shari R. Lipner

School of Medicine Faculty Publications

Hypertrichosis is a phenotype characterized by excessive hair growth in areas not typically prone to dense hair coverage. It may be congenital or acquired, and has significant clinical and psychosocial implications, often leading to psychological distress and social stigmatization. Diagnostic approaches emphasize the importance of thorough clinical evaluation and differentiation from hirsutism. Treatment options include topical and systemic treatments, as well as mechanical methods and laser therapies. Special considerations are given to pediatric patients regarding the psychosocial aspects of the phenotype. This review aims to provide physicians and researchers with a thorough understanding of hypertrichosis to facilitate better diagnosis, treatment, …

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Routine Overnight Assessments In Stable Pediatric Surgery Patients: A Critical Reconsideration, Morgan Brown, Rebecca Moreci, Hannah Megison, Elizabeth Long, Michael Maurer, Benjamin Bienvenue, Denise M. Danos, James H. Wood Jan 2025

Routine Overnight Assessments In Stable Pediatric Surgery Patients: A Critical Reconsideration, Morgan Brown, Rebecca Moreci, Hannah Megison, Elizabeth Long, Michael Maurer, Benjamin Bienvenue, Denise M. Danos, James H. Wood

School of Medicine Faculty Publications

Background: Hospitalized patients are subject to overnight vital sign (OVS) monitoring which leads to subsequent sleep disturbance and contributes to adverse outcomes and negative hospital experiences. Studies in pediatric populations have shown that routine OVS checks infrequently detect significant events. We hypothesized that OVS monitoring in pediatric surgery patients rarely detects abnormalities resulting in meaningful interventions. Materials and methods: We performed a retrospective chart review of patients ≥ 5 years old admitted to the pediatric surgery service at a stand-alone Children's Hospital from 2019 to 2021. ICU patients were excluded from analysis. Overnight vital signs were defined as those recorded …

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Ethnic Disparities In Hba1c And Hypoglycemia Among Youth With Type 1 Diabetes: Beyond Access To Technology, Social Deprivation And Mean Blood Glucose, J. Pemberton, Zhide Fang, Stuart Chalew, S. Uday Jan 2025

Ethnic Disparities In Hba1c And Hypoglycemia Among Youth With Type 1 Diabetes: Beyond Access To Technology, Social Deprivation And Mean Blood Glucose, J. Pemberton, Zhide Fang, Stuart Chalew, S. Uday

School of Public Health Faculty Publications

Introduction The UK national pediatric diabetes audit reports higher HbA1c for children and young people (CYP) with type 1 diabetes (T1D) of Black ethnicity compared with White counterparts. This is presumably related to higher mean blood glucose (MBG) due to lower socioeconomic status (SES) and less access to technology. We aimed to determine if HbA1c ethnic disparity persists after accounting for the above variables. Research design and methods A retrospective analysis of participants who received structured education in continuous glucose monitoring (CGM) use was conducted at a tertiary center. HbA1c was paired with glucose metrics from 90-day CGM data. The …

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Social, Racial, And Economic Disparities Affecting Outcomes Of Hypertensive Adolescents, Kanya Singhapakdi, Amelia Haydel, Marla Johnston, Shengping Yang, Tamara Bradford, Dedrick Moulton, Thomas R. Kimball Jan 2025

Social, Racial, And Economic Disparities Affecting Outcomes Of Hypertensive Adolescents, Kanya Singhapakdi, Amelia Haydel, Marla Johnston, Shengping Yang, Tamara Bradford, Dedrick Moulton, Thomas R. Kimball

School of Medicine Faculty Publications

Essential hypertension is one of the most common conditions managed in pediatric cardiology and can result in lasting deleterious effects on the cardiovascular system. Pediatric hypertension is so prevalent in the United States that it is often referred to as a public health challenge. Social determinants of health (SDH) are the cultural, economic, educational, healthcare accessibility, and political influences in the environment in which an individual is born or lives, all of which can affect that individual's overall health. This study investigated the impact of social determinants such as rurality, food insecurity, transportation challenges, minority status, income, and race on …

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Case Report: Disseminated Herpes Simplex Virus Complicated By Hemophagocytic Lymphohistiocytosis In A Neonate, Nicholas Tadros, Nihal Godiwala Jan 2025

Case Report: Disseminated Herpes Simplex Virus Complicated By Hemophagocytic Lymphohistiocytosis In A Neonate, Nicholas Tadros, Nihal Godiwala

School of Medicine Faculty Publications

Neonatal herpes simplex virus (HSV) infection carries a high mortality rate due to its potential to cause disseminated disease involving multiple organ systems, which can rapidly progress to shock and death if not promptly treated. In rare cases, neonates may mount an uncontrolled inflammatory response leading to hemophagocytic lymphohistiocytosis (HLH), a severe hyperinflammatory syndrome. We present a case of neonatal HSV infection complicated by HLH, highlighting the challenges of managing both conditions concurrently. Our therapeutic approach demonstrated a reduction in systemic inflammation and viral load; however, despite these efforts, the patient developed multiorgan failure and ultimately died from the initial …

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Novel Digital Anomalies, Hippocampal Atrophy, And Mutations Expand The Genotypic And Phenotypic Spectra Of Cnksr2 In The Houge Type Of X-Linked Syndromic Intellectual Development Disorder (Mrxshg), Mohammad Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, Vijay Gupta, Lara G. Stühn, Gaetan Lesca, Nicolas Chatron, Konrad Platzer, Patrick Edery, Hossein Sadeghi, Bertrand Isidor, Benjamin Cogné, Heidi L. Schulz, Ilona Krauspe-Stübecke, Radhakrishnan Periyasamy, Sheela Nampoothiri, Reza Mirfakhraie, Sahar Alijanpour, Steffen Syrbe, Ulrich Pfeifer, Stephanie Spranger, Kathrin Grundmann-Hauser, Tobias B. Haack, Maria T. Papadopoulou, Tayrine Da Silva Gonçalves, Eleni Panagiotakaki, Alexis Arzimanoglou, Seyed Hassan Tonekaboni, Yves Lacassie, Et Al Dec 2024

Novel Digital Anomalies, Hippocampal Atrophy, And Mutations Expand The Genotypic And Phenotypic Spectra Of Cnksr2 In The Houge Type Of X-Linked Syndromic Intellectual Development Disorder (Mrxshg), Mohammad Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, Vijay Gupta, Lara G. Stühn, Gaetan Lesca, Nicolas Chatron, Konrad Platzer, Patrick Edery, Hossein Sadeghi, Bertrand Isidor, Benjamin Cogné, Heidi L. Schulz, Ilona Krauspe-Stübecke, Radhakrishnan Periyasamy, Sheela Nampoothiri, Reza Mirfakhraie, Sahar Alijanpour, Steffen Syrbe, Ulrich Pfeifer, Stephanie Spranger, Kathrin Grundmann-Hauser, Tobias B. Haack, Maria T. Papadopoulou, Tayrine Da Silva Gonçalves, Eleni Panagiotakaki, Alexis Arzimanoglou, Seyed Hassan Tonekaboni, Yves Lacassie, Et Al

School of Medicine Faculty Publications

The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12. CNKSR2, also known as CNK2 or MAGUIN, functions as a synaptic scaffolding molecule within the neuronal postsynaptic density (PSD) of the central nervous system. It acts as a link connecting postsynaptic structural proteins, such as PSD95 and S-SCAM, by employing multiple functional domains crucial for synaptic signaling and protein–protein interactions. Predominantly expressed in dendrites, …

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Unilateral Hemicraniectomy With Titanium Cranioplasty For The Treatment Of High Intracranial Pressure In A Pediatric Patient With Camurati-Engelmann Disease: Illustrative Case, Roboan Guillen-Arguello, Nicholas Sader, J. Gordon Mccomb Dec 2024

Unilateral Hemicraniectomy With Titanium Cranioplasty For The Treatment Of High Intracranial Pressure In A Pediatric Patient With Camurati-Engelmann Disease: Illustrative Case, Roboan Guillen-Arguello, Nicholas Sader, J. Gordon Mccomb

School of Medicine Faculty Publications

BACKGROUND Camurati-Engelmann disease (CED) is an extremely rare autosomal dominant genetic disorder that can cause increased intracranial pressure (ICP) secondary to cranial hyperostosis, which decreases intracranial volume. Surgical procedures to reduce ICP in medically refractory cases include intracranial volume expansion and ventriculoperitoneal shunting. OBSERVATIONS The authors present the case of a pediatric patient with CED and medically refractory increased ICP who underwent unilateral hemicraniectomy with titanium cranioplasty, resulting in a complete long-term resolution of symptoms. LESSONS Unilateral hemicraniectomy with titanium cranioplasty is a feasible surgical treatment for CED in pediatric patients with medically refractory increased ICP and papilledema.

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Liv Selection In ‘Tweener’ Patients Treated With Magnetically Controlled Growing Rods Vs. Posterior Spinal Fusion, Brandon Yoshida, Claudia Leonardi, Jacquelyn Valenzuela-Moss, Lindsay M. Andras, Tyler A. Tetreault, John B. Emans, John T. Smith, Joshua M. Pahys, G. Ying Li, Michael J. Heffernan Dec 2024

Liv Selection In ‘Tweener’ Patients Treated With Magnetically Controlled Growing Rods Vs. Posterior Spinal Fusion, Brandon Yoshida, Claudia Leonardi, Jacquelyn Valenzuela-Moss, Lindsay M. Andras, Tyler A. Tetreault, John B. Emans, John T. Smith, Joshua M. Pahys, G. Ying Li, Michael J. Heffernan

School of Public Health Faculty Publications

Purpose: The purpose of this study was to compare the LIV selection in ‘tweener’ patients treated with MCGR or PSF. Methods: A multicenter pediatric spine database was queried for ambulatory patients ages 8–11 years treated by MCGR or PSF with at least 2-year follow-up. The relationship between the LIV and preoperative spinal height, curve magnitude, and implant type were assessed. The relationship between the touched vertebrae (TV), the last substantially touched vertebrae (LSTV), the stable vertebrae (SV), and the LIV were evaluated. Results: One hundred and fifty-nine patients met inclusion criteria. Preoperative curve magnitude was similar between groups (MCGR 68 …

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Association Of Unmet Social Needs With Disease-Related Outcomes In Pediatric Patients With Sickle Cell Disease, Molly Sonenklar, Sarah Marks, Cerelia Donald, Cecelia Valrie, Wally Smith, India Sisler Dec 2024

Association Of Unmet Social Needs With Disease-Related Outcomes In Pediatric Patients With Sickle Cell Disease, Molly Sonenklar, Sarah Marks, Cerelia Donald, Cecelia Valrie, Wally Smith, India Sisler

School of Medicine Faculty Publications

Background: Social determinants of health (SDoH) are socioeconomic factors that influence health and well-being, though when unmet can greatly contribute to health disparities. Individuals with sickle cell disease (SCD) are at increased risk of mortality, disability, and healthcare utilization. However, there are limited data linking specific social needs with disease outcomes in this population. Therefore, we sought to identify the unmet needs in one institution and their association with healthcare utilization. Methods: Children with SCD and their guardians answered demographic and SDoH questionnaires during routine Sickle Cell Clinic appointments. We defined an unmet social need as any positive answer to …

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