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Pediatrics

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Articles 601 - 630 of 9023

Full-Text Articles in Medical Specialties

A Case Report: Ansa Pancreatica As A Cause Of Recurrent Pancreatitis, Chase Branstetter, Elizaveta Khenner, Victoria Sarata, Nadia Ibrahimi Nov 2025

A Case Report: Ansa Pancreatica As A Cause Of Recurrent Pancreatitis, Chase Branstetter, Elizaveta Khenner, Victoria Sarata, Nadia Ibrahimi

Posters

No abstract provided.


Intravascular Hemolysis As A Converging Mechanism In Hemolytic Disorders, Justin A Courson, Arun Saini Nov 2025

Intravascular Hemolysis As A Converging Mechanism In Hemolytic Disorders, Justin A Courson, Arun Saini

Faculty, Staff and Students Publications

No abstract provided.


Pediatric Heart-Kidney Transplantation, Swati Choudhry, Kriti Puri, Vikas R Dharnidharka Nov 2025

Pediatric Heart-Kidney Transplantation, Swati Choudhry, Kriti Puri, Vikas R Dharnidharka

Faculty, Staff and Students Publications

Heart transplantation is regarded as the definitive treatment for advanced pediatric heart failure. However, concomitant kidney dysfunction often complicates candidate selection for isolated heart transplantation. Prolonged venous congestion, nephrotoxic exposures, and recurrent episodes of acute kidney injury can result in varying degrees of renal impairment. Differentiating between reversible kidney injury secondary to cardiorenal syndrome and irreversible intrinsic renal disease remains a major challenge. Pediatric heart-kidney transplantation has shown survival benefits for patients with end-stage heart failure requiring chronic dialysis, yet its role in patients with less severe renal dysfunction is less clearly defined. This review summarizes the current evidence on …


Factors Influencing 25-Year Survival In Pediatric Liver Transplant Recipients, Garrett Wortham, Megan Crawford, John Miggins, Chun-Sing Huang, John A Goss, Abbas Rana, Nhu Thao Galván Nov 2025

Factors Influencing 25-Year Survival In Pediatric Liver Transplant Recipients, Garrett Wortham, Megan Crawford, John Miggins, Chun-Sing Huang, John A Goss, Abbas Rana, Nhu Thao Galván

Faculty, Staff and Students Publications

Background: This study assesses the impact of cholestatic liver disease, including biliary atresia, on 25-year survival post-transplantation and additional factors influencing long-term outcomes after pediatric liver transplantation.

Methods: We conducted a retrospective analysis of pediatric liver transplant recipients (1987-1998) using de-identified data from the OPTN 2023 Liver Database. After exclusions for multi-organ transplants (n = 222), prior transplants (n = 2256), and deaths within 1 year (n = 526), 2429 patients remained, including 645 with cholestatic disease. Univariate and multivariate analyses identified factors associated with 25-year survival.

Results: A primary diagnosis of cholestatic disease was associated with improved 25-year survival …


From Pachymeningitis Hemorrhagica To Abusive Head Trauma: A Journey Through The Centuries, Oliver Berthold, Flora Blangis, Christopher Spencer Greeley Nov 2025

From Pachymeningitis Hemorrhagica To Abusive Head Trauma: A Journey Through The Centuries, Oliver Berthold, Flora Blangis, Christopher Spencer Greeley

Faculty, Staff and Students Publications

The development of medical knowledge follows specific principles. These also apply to abusive head trauma. The seminal literature from the early 20th century is based on earlier research from Europe, which is fundamental to understand the evolution of understanding and nomenclature of abusive head trauma. A review of original medical literature on intracranial injuries in children, published in German, English, and French, was conducted using PubMed and Google Scholar for articles before 1950. The primary search focused on subdural hemorrhages and pachymeningitis in children, followed by a snowball search of references. Full texts of available manuscripts were reviewed. Primary literature …


Differences In Patient And Parent Preferences For Prognostic Communication Across Disease Milestones In Advanced Childhood Cancer, Rachel A Kentor, Shoshana Mehler, Caroline Christianson, Harmony Farner, Tara M Brinkman, Justin N Baker, Pamela S Hinds, Jennifer W Mack, Erica C Kaye Nov 2025

Differences In Patient And Parent Preferences For Prognostic Communication Across Disease Milestones In Advanced Childhood Cancer, Rachel A Kentor, Shoshana Mehler, Caroline Christianson, Harmony Farner, Tara M Brinkman, Justin N Baker, Pamela S Hinds, Jennifer W Mack, Erica C Kaye

Faculty, Staff and Students Publications

Background: Navigating prognostic communication is challenging for clinicians caring for adolescents and young adults (AYAs) with poor-prognosis cancer. Presently, little is known about how AYA and parent preferences for prognostic disclosure evolve over time. This study explored communication preferences at key illness milestones of disease progression to inform individualized, person-centered approaches to optimize prognostic disclosure.

Procedure: Sixty-five participants, including 25 AYAs aged 12-25 years and 40 parents, were recruited at distinct illness timepoints-diagnosis, relapse/progression, Phase I/II trial enrollment, and bereavement-to participate in semi-structured interviews about their preferences for timing, style, and content of prognostic communication. Rapid analysis was conducted to …


Point/Counterpoint: Upfront Braf Inhibition For Adult Braf-Mutant High-Grade Gliomas, Sebastien Perreault, Marjolein Geurts, Jasia Mahdi, Karisa C Schreck, Matthias Preusser, Patrick Y Wen, Mary Jane Lim-Fat, Jan-Michael Werner Nov 2025

Point/Counterpoint: Upfront Braf Inhibition For Adult Braf-Mutant High-Grade Gliomas, Sebastien Perreault, Marjolein Geurts, Jasia Mahdi, Karisa C Schreck, Matthias Preusser, Patrick Y Wen, Mary Jane Lim-Fat, Jan-Michael Werner

Faculty, Staff and Students Publications

No abstract provided.


Indomethacin-Induced Ductus Arteriosus Closure And Aortopulmonary Collateral Formation In Fetal Ebstein Anomaly With Circular Shunt, Mounica Y Rao, Ruth M Vaughan, Shaine A Morris, Nancy A Ayres, Maggie J Nguyen, Jianhong Zhang, Betul Yilmaz Furtun Nov 2025

Indomethacin-Induced Ductus Arteriosus Closure And Aortopulmonary Collateral Formation In Fetal Ebstein Anomaly With Circular Shunt, Mounica Y Rao, Ruth M Vaughan, Shaine A Morris, Nancy A Ayres, Maggie J Nguyen, Jianhong Zhang, Betul Yilmaz Furtun

Faculty, Staff and Students Publications

• Indomethacin may improve hemodynamics in fetal Ebstein anomaly with circular shunt. • Ductal closure with indomethacin can impair pulmonary blood flow and growth. • Ductal closure may result in subsequent development of APCs. • Irreversible ductal closure may affect postnatal surgical palliation. • Fetal echocardiography is vital for early intervention and medication titration.


Selective Agonism Of Liver And Gut Fxr Prevents Cholestasis And Intestinal Atrophy In Parenterally Fed Neonatal Pigs, Yanjun Jiang, Zhengfeng Fang, Gregory Guthrie, Barbara Stoll, Shaji Chacko, Sen Lin, Bolette Hartmann, Jens J Holst, Harry Dawson, Jose J Pastor, Ignacio R Ipharraguerre, Douglas G Burrin Nov 2025

Selective Agonism Of Liver And Gut Fxr Prevents Cholestasis And Intestinal Atrophy In Parenterally Fed Neonatal Pigs, Yanjun Jiang, Zhengfeng Fang, Gregory Guthrie, Barbara Stoll, Shaji Chacko, Sen Lin, Bolette Hartmann, Jens J Holst, Harry Dawson, Jose J Pastor, Ignacio R Ipharraguerre, Douglas G Burrin

Faculty, Staff and Students Publications

We aimed to investigate the relative efficacy of feeding different bile acids in preventing PNALD in neonatal pigs. Newborn pigs given total parenteral nutrition (TPN) combined with minimal enteral feeding of chenodeoxycholic acid (CDCA) or increasing doses of obeticholic acid (OCA) for 19 days. Enteral OCA (5 and 15 mg/kg), but not CDCA (30 mg/kg) reduced blood cholestasis markers compared to TPN controls and increased bile acids in the gallbladder and intestine. Major bile acids in the liver and distal intestine were CDCA, HCA, HDCA, and OCA, and their relative proportions were increased by the type of bile acid (CDCA …


Health Disparity Indices In The Assessment Of Adolescent Idiopathic Scoliosis: Are All Indices Similar?, William Woodhams, Michael Benvenuti, Jonathan Warren, George Thomas, John Anderson, Richard M. Schwend, K Aaron Shaw Nov 2025

Health Disparity Indices In The Assessment Of Adolescent Idiopathic Scoliosis: Are All Indices Similar?, William Woodhams, Michael Benvenuti, Jonathan Warren, George Thomas, John Anderson, Richard M. Schwend, K Aaron Shaw

Manuscripts, Articles, Book Chapters and Other Papers

BACKGROUND: Adolescent idiopathic scoliosis (AIS) is a common spinal deformity. Previous studies have demonstrated that healthcare disparities affect the initial presentation of AIS patients. However, studies have utilized various socioeconomic status (SES) indices with no previous study assessing the congruency of these indices.

METHODS: A single-center, retrospective review of adolescent patients presenting for initial evaluation of scoliosis was performed at a tertiary care pediatric hospital based in the central United States. Patient demographic data were recorded in addition to radiographic data consisting of coronal curve magnitude at presentation and skeletal maturity indices. Socioeconomic variables were collected, including geographic area of …


Preoperative Immobilization For Pediatric Femur Fractures., Connor Mathes, Leilani Mansy, Lisa Berglund, Caleb W. Grote Nov 2025

Preoperative Immobilization For Pediatric Femur Fractures., Connor Mathes, Leilani Mansy, Lisa Berglund, Caleb W. Grote

Manuscripts, Articles, Book Chapters and Other Papers

Guidelines for the definitive surgical management of pediatric femoral shaft fractures have recently been established. Initial preoperative immobilization of these patients varies by age and size; limited guidelines exist to guide caregivers in appropriate preoperative care. Here, we present our recommendations based on clinical experience and literature review. We prefer temporary splints for patients younger than 5 years and Bucks boot traction for skeletally immature patients older than 5 years. In small patients, the splint should extend past the iliac crest and down to the foot to ensure proper immobilization of the femur fracture. For Bucks boot traction, proper traction …


Bilateral Pleuropulmonary Blastoma In An Infant., R Guanà, E Zambaiti, Maria Grazia Sacco Casamassima, S Garofalo, L Lonati, E Stanton, F Gennari Nov 2025

Bilateral Pleuropulmonary Blastoma In An Infant., R Guanà, E Zambaiti, Maria Grazia Sacco Casamassima, S Garofalo, L Lonati, E Stanton, F Gennari

Manuscripts, Articles, Book Chapters and Other Papers

No abstract provided.


Call To Action-Pediatric Masld Requires Immediate Attention To Curb Health Crisis, Phillipp Hartmann, Marialena Mouzaki, Sara Hassan, Mohit Kehar, Krupa R Mysore, Erin Mauney, Dieudonne Nonga, Sara Karjoo, Shilpa Sood, Andrea Tou, Christine Brichta, Rachel E Herdes, Nikhil Pai, Donna K Garner, Mary E Rinella, Mazen Noureddin, Zobair Younossi, Alina M Allen, Arun Sanyal, Taisa Kohut, Rohit Kohli, Charina M Ramirez, Stavra Xanthakos, Miriam B Vos, Jeffrey B Schwimmer, Samar H Ibrahim, Jennifer Panganiban Nov 2025

Call To Action-Pediatric Masld Requires Immediate Attention To Curb Health Crisis, Phillipp Hartmann, Marialena Mouzaki, Sara Hassan, Mohit Kehar, Krupa R Mysore, Erin Mauney, Dieudonne Nonga, Sara Karjoo, Shilpa Sood, Andrea Tou, Christine Brichta, Rachel E Herdes, Nikhil Pai, Donna K Garner, Mary E Rinella, Mazen Noureddin, Zobair Younossi, Alina M Allen, Arun Sanyal, Taisa Kohut, Rohit Kohli, Charina M Ramirez, Stavra Xanthakos, Miriam B Vos, Jeffrey B Schwimmer, Samar H Ibrahim, Jennifer Panganiban

Faculty, Staff and Students Publications

Pediatric metabolic dysfunction-associated steatotic liver disease (MASLD) has become more prevalent on a global scale over the last decades and is associated with significant comorbidities in childhood and a 40-fold higher risk of early mortality in young adulthood. MASLD has now become the leading indication for liver transplantation in young adults in the United States. However, pediatric MASLD is still perceived as an indolent condition by many patients, families, and clinicians. In this Call to Action, we aim to raise awareness of pediatric MASLD as a public health crisis. Herein, we describe insufficient screening and disease staging practices, and a …


Parental Psychosocial Outcomes After A Positive Newborn Screen For A Lysosomal Storage Disorder., Courtney D. Berrios, Randi N. Gadea, Meghan Strenk, Twisha Nadella, Jennifer L. Gannon, Janelle R. Noel-Macdonnell Phd Nov 2025

Parental Psychosocial Outcomes After A Positive Newborn Screen For A Lysosomal Storage Disorder., Courtney D. Berrios, Randi N. Gadea, Meghan Strenk, Twisha Nadella, Jennifer L. Gannon, Janelle R. Noel-Macdonnell Phd

Manuscripts, Articles, Book Chapters and Other Papers

PURPOSE: This study explores the psychosocial impact of a positive newborn screen (NBS) result for four lysosomal storage disorders (LSDs) (Fabry disease, Krabbe disease, Mucopolysaccharidosis Type I, Pompe disease) across confirmatory results.

METHODS: Parents whose child who had a positive NBS for one of the included LSDs were recruited for a retrospective cohort (n = 80) or prospective, longitudinal cohorts (n = 50). Surveys assessed uncertainty, anxiety, intrusive or avoidant thoughts, and perceived vulnerability of their child's health. In-depth interviews explored the NBS experience and psychosocial response.

RESULTS: Participants experienced uncertainty and anxiety during confirmatory testing that improved as parents …


The 10-Year Status Of Pediatric Gastroenterologists' Perception Of Their Roles In The Management Of Childhood Obesity., Sara Karjoo, Senthilkumar Sankararaman, Fotini Tania Mitsinikos, Marwa Abu El Haija, Sheela Mahendra, Ayesha Baig, Ruba A. Abdelhadi, Ruben E. Quiros-Tejeira, Timothy Sentongo Nov 2025

The 10-Year Status Of Pediatric Gastroenterologists' Perception Of Their Roles In The Management Of Childhood Obesity., Sara Karjoo, Senthilkumar Sankararaman, Fotini Tania Mitsinikos, Marwa Abu El Haija, Sheela Mahendra, Ayesha Baig, Ruba A. Abdelhadi, Ruben E. Quiros-Tejeira, Timothy Sentongo

Manuscripts, Articles, Book Chapters and Other Papers

In 2013, a survey of NASPGHAN members on their involvement in managing pediatric obesity revealed that most pediatric gastroenterologists viewed their roles as primarily supportive, focusing on the management of obesity-related gastrointestinal comorbidities. This 10-year follow-up survey, which targeted pediatric gastroenterology programs and practices, found similar perceptions, along with an increased interest in learning about obesity pharmacotherapy. Additionally, most programs and practices reported limited access to dedicated dietitians, a lack of funding, and a desire for greater institutional support for multidisciplinary programs addressing obesity. Notably, none of the funded programs cited philanthropy as a source of funding. These findings underscore …


Beyond Seizures As An Outcome Measure: A Global Severity Scoring System For Cdkl5 Deficiency Disorder, Peter Jacoby, Eric D Marsh, Scott Demarest, Jacinta M Saldaris, Helen Leonard, Heather E Olson, Joni N Saby, Elia Pestana-Knight, Rajsekar Rajaraman, Dana Price, Judith Weisenberg, Bernhard Suter, Jenny Downs, Tim A Benke Nov 2025

Beyond Seizures As An Outcome Measure: A Global Severity Scoring System For Cdkl5 Deficiency Disorder, Peter Jacoby, Eric D Marsh, Scott Demarest, Jacinta M Saldaris, Helen Leonard, Heather E Olson, Joni N Saby, Elia Pestana-Knight, Rajsekar Rajaraman, Dana Price, Judith Weisenberg, Bernhard Suter, Jenny Downs, Tim A Benke

Faculty, Staff and Students Publications

Background: CDKL5 deficiency disorder (CDD) is a rare developmental and epileptic encephalopathy (DEE) associated with multiple impairments and comorbidities. Outcome measures for disease-modifying clinical trials for DEEs should measurably capture a spectrum of caregiver priorities and be externally validated.

Methods: The International CDKL5 Clinical Research Network was the data source for this observational study. A Structural Equation Model was constructed with latent, exogenous variables related to observed clinical features to calculate a global severity score from the following assessments: the CDKL5 Clinical Severity Assessment-Clinician and -Caregiver, Communication and Symbolic Behavior Scales Developmental Profile Infant Toddler Checklist and the Sleep Disturbance …


A Rare Molecular Diagnosis In A Patient With Hepatocerebral Syndrome Contributes To The Expansion Of The Phenotypic Spectrum Of Polg2 -Related Mitochondrial Disorder, Vittoria Rossi, Dan Brooks, Hongzheng Dai, Elizabeth Mizerik, Karla Salazar, Daniel Davila-Williams, Yishay Ben-Moshe, Seema R Lalani, Sarah H Elsea, Charul Gijavanekar, Daryl A Scott, Keren Machol, Mir Reza Bekheirnia, Fernando Scaglia Nov 2025

A Rare Molecular Diagnosis In A Patient With Hepatocerebral Syndrome Contributes To The Expansion Of The Phenotypic Spectrum Of Polg2 -Related Mitochondrial Disorder, Vittoria Rossi, Dan Brooks, Hongzheng Dai, Elizabeth Mizerik, Karla Salazar, Daniel Davila-Williams, Yishay Ben-Moshe, Seema R Lalani, Sarah H Elsea, Charul Gijavanekar, Daryl A Scott, Keren Machol, Mir Reza Bekheirnia, Fernando Scaglia

Faculty, Staff and Students Publications

POLG2 encodes an accessory subunit in DNA polymerase gamma that is required for mitochondrial DNA synthesis. Monoallelic pathogenic variants in POLG2 are associated primarily with progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4 (PEOA4, MIM #610131). We report a rare case of severe infantile hepatocerebral syndrome associated with biallelic variants in POLG2. The proband, a 5-week-old female infant, presented with seizures and acute liver failure. Extensive metabolic workup, including untargeted metabolomics analysis and elevated plasma growth differentiation factor 15, was suggestive of mitochondrial dysfunction. Rapid trio genome sequencing identified compound heterozygous variants, a likely pathogenic variant and …


Improving Infant Continuity Of Care In An Academic Center Clinic: A Quality Improvement Project., Abiye Y. Okah, Morgen L. Govindan, Rachael D. Dameron, Kristi Williams Nov 2025

Improving Infant Continuity Of Care In An Academic Center Clinic: A Quality Improvement Project., Abiye Y. Okah, Morgen L. Govindan, Rachael D. Dameron, Kristi Williams

Manuscripts, Articles, Book Chapters and Other Papers

INTRODUCTION: Continuity of care (COC) with an identified provider is a key principle of the patient-centered medical home. COC may be impacted by other activities that providers practicing in an academic center must engage in. The disruption of care processes during the COVID-19 pandemic led to a decrease in COC for infants attending our academic center's primary care clinic. We implemented a quality improvement (QI) project to improve the rates of infant COC.

METHODS: In 2021, we implemented a QI project with the aim of increasing the percentage of 12-month-old infants who had seen the same provider for at least …


Intraoperative Electrical Stimulation Can Identify Potential Ulnar Nerve Injury From Crossed Pinning Of A Supracondylar Humerus Fracture., Lucas A. Georger, Mckenna C. Noe, Richard M. Schwend Nov 2025

Intraoperative Electrical Stimulation Can Identify Potential Ulnar Nerve Injury From Crossed Pinning Of A Supracondylar Humerus Fracture., Lucas A. Georger, Mckenna C. Noe, Richard M. Schwend

Manuscripts, Articles, Book Chapters and Other Papers

Treatment of Gartland type III supracondylar fractures using reduction and crossed Kirschner wire fixation is considered the most stable method; however, there is a risk of iatrogenic ulnar nerve injury during medial pin placement. We describe a technique for intraoperative detection of such nerve injury.An inexpensive disposable nerve stimulator is set at 2 mA and applied directly to the Kirschner wires after placement, alerting the surgeon intraoperatively if a wire contacts the ulnar nerve. A positive response involves any finger motion with Kirschner wire stimulation. We recommend this novel method of intraoperative Kirschner wire stimulation using an inexpensive disposable nerve …


Can The Combination Of White Blood Cell Count And C-Reactive Protein Rule Out Pediatric Appendicitis, A Retrospective Analysis?, Scott Gutovitz, Samantha Stoner, Jarrett Koper, Sarah Kleist Oct 2025

Can The Combination Of White Blood Cell Count And C-Reactive Protein Rule Out Pediatric Appendicitis, A Retrospective Analysis?, Scott Gutovitz, Samantha Stoner, Jarrett Koper, Sarah Kleist

HCA Healthcare Journal of Medicine

Background

Pediatric appendicitis (PA) is the most frequent cause of pediatric emergency surgery. Standard PA scoring systems incorporate inflammatory biomarkers (white blood cell count [WBC] or C-reactive protein [CRP]); however, the individual biomarker sensitivities have not been reported beyond single-center sites. We aimed to measure the individual and combined sensitivities of WBC and CRP to rule out PA in a large multicenter hospital system.

Methods

We did a retrospective study of pediatric emergency department patients (age <18) with abdominal pain, using a deidentified electronic health database from a 175-hospital system in the United States, comparing PA versus non-PA patients. Pediatric appendicitis patients were identified by ICD-10 diagnosis codes and had advanced imaging, whereas non-PA patients had advanced imaging and were discharged home with the ICD-10 code for abdominal pain. Using matched propensity matching, we calculated receiver operator characteristics and Youden’s index to find the optimal cutpoints. Sensitivity was calculated at the optimal and traditional cutpoints for each biomarker, also combined in parallel fashion.

Results

We identified 7414 subjects (3707 PA matched to 3707 controls). The WBC in PA patients was 14.99 ± 5.00 k/mm3 versus 9.63 …


Longitudinal Characterization Of Males With X-Linked Creatine Transporter Deficiency: Final Results Of A Multiyear Observational Study, Judith S Miller, Cristan Farmer, Susan Blair, Simona Bianconi, Natacha Akshoomoff, Irina Anselm, Bruce A Barshop, Lindsey Becker, Amanda E Bennett, Leandra N Berry, Elizabeth M Berry-Kravis, Aleksandra Bruchey, Anna W Byars, Tricia Cimms, Kim M Cecil, Maxine Covello, Laura S Cubit, Tanvi Das, Robert J Davis, Madison Drye, Can Ficicioglu, John B Fulton, Robin P Goin-Kochel, Whitney Guthrie, Barbara E Hallinan, Fady Hannah-Shmouni, Kathryn E Gustafson, Dwight D Koeberl, Nicola Longo, Eva Mamak, Saadet Mercimek-Andrews, Claire Michalak, Forbes D Porter, Samar Rahhal, Linda Rees, Gail A Spiridigliozzi, Caitlin Stone, Nancy R Sullivan, V Reid Sutton, Rebecca P Thomas, Manisha Udhnani, Susan Waisbren, Michelle Xu, Lin Zhang, Melanie Brandabur, Audrey Thurm Oct 2025

Longitudinal Characterization Of Males With X-Linked Creatine Transporter Deficiency: Final Results Of A Multiyear Observational Study, Judith S Miller, Cristan Farmer, Susan Blair, Simona Bianconi, Natacha Akshoomoff, Irina Anselm, Bruce A Barshop, Lindsey Becker, Amanda E Bennett, Leandra N Berry, Elizabeth M Berry-Kravis, Aleksandra Bruchey, Anna W Byars, Tricia Cimms, Kim M Cecil, Maxine Covello, Laura S Cubit, Tanvi Das, Robert J Davis, Madison Drye, Can Ficicioglu, John B Fulton, Robin P Goin-Kochel, Whitney Guthrie, Barbara E Hallinan, Fady Hannah-Shmouni, Kathryn E Gustafson, Dwight D Koeberl, Nicola Longo, Eva Mamak, Saadet Mercimek-Andrews, Claire Michalak, Forbes D Porter, Samar Rahhal, Linda Rees, Gail A Spiridigliozzi, Caitlin Stone, Nancy R Sullivan, V Reid Sutton, Rebecca P Thomas, Manisha Udhnani, Susan Waisbren, Michelle Xu, Lin Zhang, Melanie Brandabur, Audrey Thurm

Faculty, Staff and Students Publications

Background: The purpose of the Vigilan observational study (ClinicalTrials.gov, NCT02931682) was to prospectively assess the natural history and developmental course of creatine transporter deficiency (CTD).

Methods: Males with CTD aged 6 months to 65 years were evaluated at 6-month intervals for up to 4 years. Evaluations included neurodevelopmental assessments of intellectual functioning, adaptive functioning, and challenging behaviors and the onset and progression of medical comorbidities.

Results: Fifty participants (median age, 7.6 years) were enrolled. The predominant CTD phenotype consisted of significant intellectual disabilities and limited skill development over time. Most participants had a history of febrile or nonfebrile seizures, …


Translational Framework Linking Perfluoroheptanoic Acid (Pfhpa) Exposure To Metabolic Dysfunction Associated Steatotic Liver Disease In Adolescents, Brittney O Baumert, Ana C Maretti-Mira, Douglas I Walker, Zhenjiang Li, Nikos Stratakis, Hongxu Wang, Yinqi Zhao, Fabian Christoph Fischer, Qiran Jia, Damaskini Valvi, Scott M Bartell, Jiawen Carmen Chen, Thomas Inge, Justin R Ryder, Todd Jenkins, Stephanie Sisley, Stavra Xanthakos, David E Kleiner, Rohit Kohli, Sarah Rock, Sandrah P Eckel, Michele A La Merrill, Max M Aung, Matthew P Salomon, Rob Mcconnell, Jesse Goodrich, David V Conti, Lucy Golden-Mason, Lida Chatzi Oct 2025

Translational Framework Linking Perfluoroheptanoic Acid (Pfhpa) Exposure To Metabolic Dysfunction Associated Steatotic Liver Disease In Adolescents, Brittney O Baumert, Ana C Maretti-Mira, Douglas I Walker, Zhenjiang Li, Nikos Stratakis, Hongxu Wang, Yinqi Zhao, Fabian Christoph Fischer, Qiran Jia, Damaskini Valvi, Scott M Bartell, Jiawen Carmen Chen, Thomas Inge, Justin R Ryder, Todd Jenkins, Stephanie Sisley, Stavra Xanthakos, David E Kleiner, Rohit Kohli, Sarah Rock, Sandrah P Eckel, Michele A La Merrill, Max M Aung, Matthew P Salomon, Rob Mcconnell, Jesse Goodrich, David V Conti, Lucy Golden-Mason, Lida Chatzi

Faculty, Staff and Students Publications

Background: The rising prevalence of metabolic dysfunction-associated steatotic liver disease (MASLD), particularly among pediatric populations, requires identification of modifiable risk factors to control disease progression. Per- and polyfluoroalkyl substances (PFAS) have emerged as potential contributors to liver damage; however, their role in MASLD remains underexplored. This study aimed to develop a translational framework integrating human and in vitro data to elucidate the effect of PFAS on MASLD development.

Methods: We measured PFAS plasma levels in the Teen-LABS cohort (n = 136), comprising adolescents with obesity (mean age = 16.8 years) undergoing bariatric surgery. Plasma samples were also analyzed using proteomic …


Long-Term Liver-Targeted Aav8 Gene Therapy For Mucopolysaccharidosis Iva, Shaukat A. Khan, Eliana Benincore-Florez, Fnu Nidhi, Jose Victor Álvarez, Dione A. Holder, Shunji Tomatsu Oct 2025

Long-Term Liver-Targeted Aav8 Gene Therapy For Mucopolysaccharidosis Iva, Shaukat A. Khan, Eliana Benincore-Florez, Fnu Nidhi, Jose Victor Álvarez, Dione A. Holder, Shunji Tomatsu

Department of Pediatrics Faculty Papers

Mucopolysaccharidosis IVA (MPS IVA) is a lysosomal storage disease with an autosomal recessive trait caused by the deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) enzyme, which leads to the accumulation of chondroitin-6-sulfate and keratan sulfate, primarily in cartilage and its extracellular matrix, resulting in a direct impact on cartilage and bone development, as well as subsequent systemic skeletal dysplasia. ERT and HSCT are current treatment options, but they have a limited effect on bone lesions. In this article, we investigated liver-specific AAV8 vectors with a thyroxine-binding globulin promoter in the MPS IVA murine model to evaluate the long-term (24 weeks in males …


Selective Rna Sequestration In Biomolecular Condensates Directs Cell Fate Transitions, Patrizia Pessina, Mika Nevo, Junchao Shi, Srikanth Kodali, Eduard Casas, Yingzhi Cui, Alicia L Richards, Emily J Park, Xi Chen, Florencia Levin-Ferreyra, Alejandra Rivera Tostado, Erica Stevenson, Nevan J Krogan, Danielle L Swaney, Qilong Ying, Qi Chen, Justin Brumbaugh, Bruno Di Stefano Oct 2025

Selective Rna Sequestration In Biomolecular Condensates Directs Cell Fate Transitions, Patrizia Pessina, Mika Nevo, Junchao Shi, Srikanth Kodali, Eduard Casas, Yingzhi Cui, Alicia L Richards, Emily J Park, Xi Chen, Florencia Levin-Ferreyra, Alejandra Rivera Tostado, Erica Stevenson, Nevan J Krogan, Danielle L Swaney, Qilong Ying, Qi Chen, Justin Brumbaugh, Bruno Di Stefano

Faculty, Staff and Students Publications

Controlling stem cell differentiation is a longstanding goal in biomedical research. Here we explore how cell fate is influenced by RNA condensates, specifically P-bodies, which modulate gene expression posttranscriptionally. We profiled the transcriptomes of biomolecular condensates in diverse developmental contexts spanning multiple vertebrate species. Our analyses revealed conserved, cell type-specific sequestration of untranslated RNAs encoding cell fate regulators. P-body RNA contents do not reflect active gene expression in each cell type but are enriched for translationally repressed transcripts characteristic of the preceding developmental stage. Mechanistically, P-body contents are controlled by microRNAs and can be profoundly reshaped by perturbing AGO2 or …


Beyond The Pediatrician: Building Your Child’S Care Circle, Maggie Mckay, Chelsea Wolfe Oct 2025

Beyond The Pediatrician: Building Your Child’S Care Circle, Maggie Mckay, Chelsea Wolfe

Parent-ish Podcast

From pediatricians to orthodontists, knowing when your child should see different specialists can make a big difference. Dr. Chelsea Wolfe joins Parent-ish to break down the timeline of care and share tips for spotting when extra support might be needed.

Click here to stream the podcast episode.


Managing Pcos In Adolescents, Michael Smith, Tania S. Burgert Oct 2025

Managing Pcos In Adolescents, Michael Smith, Tania S. Burgert

Pediatrics in Practice: A CME Podcast

In this episode, Dr. Tania Burgert, a leading pediatric endocrinologist and director of the Multi-Specialty Adolescent PCOS Program at Children’s Mercy, breaks down the complexities of diagnosing and managing polycystic ovary syndrome (PCOS) in teens. She discusses the evolving diagnostic criteria, the challenges pediatricians face in early identification, and how to approach patients who may be “at risk.” Dr. Burgert also explores first-line treatment strategies, the critical role of mental health support, and how lifestyle interventions can be made sustainable for adolescents.

Click here to stream the podcast episode.


A Novel Approach To Calculating Expected Total Fetal Lung Volume In Fetuses With Isolated Congenital Diaphragmatic Hernia And Fetal Growth Restriction: A Theoretical Computational Simulation, Morcos Hanna, Jonathan Davies, Amaryllis Fernandes, Pamela M Ketwaroo, Amy R Mehollin-Ray, Roopali Donepudi, Alice King, Joseph Hagan, Sundeep G Keswani, Sharada H Gowda, Caraciolo J Fernandes Oct 2025

A Novel Approach To Calculating Expected Total Fetal Lung Volume In Fetuses With Isolated Congenital Diaphragmatic Hernia And Fetal Growth Restriction: A Theoretical Computational Simulation, Morcos Hanna, Jonathan Davies, Amaryllis Fernandes, Pamela M Ketwaroo, Amy R Mehollin-Ray, Roopali Donepudi, Alice King, Joseph Hagan, Sundeep G Keswani, Sharada H Gowda, Caraciolo J Fernandes

Faculty, Staff and Students Publications

Objectives: Congenital diaphragmatic hernia (CDH) often coexists with fetal growth restriction (FGR). The observed-to-expected (O/E) total fetal lung volume (TFLV) is used to assess CDH severity, predict outcomes, and direct fetal interventions. Expected TFLV measurements traditionally rely only on gestation age (GA). This simulation assesses how incorporating weight-adjusted GA norms affects O/E TFLV calculations in patients with isolated CDH and FGR.

Methods: A simulated dataset (n=1,005) utilized published mean fetal weight and TFLV references. Computer-generated variables included observed weights (3rd-10th %ile), O/E TFLV (10-65 %), and percent liver herniation (0-42 %). GA estimates were corrected by weight and used to …


Resilience Factors And Physical Activity Engagement In Adolescents With Chronic Musculoskeletal Pain: A Cross-Sectional Study., William R. Black, Haley Hart, Jennifer Christofferson, Mark Connelly, Liesbet Goubert, Dustin Wallace, Laura Ellingson-Sayen, Ann M. Davis Oct 2025

Resilience Factors And Physical Activity Engagement In Adolescents With Chronic Musculoskeletal Pain: A Cross-Sectional Study., William R. Black, Haley Hart, Jennifer Christofferson, Mark Connelly, Liesbet Goubert, Dustin Wallace, Laura Ellingson-Sayen, Ann M. Davis

Manuscripts, Articles, Book Chapters and Other Papers

Background/Objectives: Chronic musculoskeletal pain (CMSKP) affects up to 40% of adolescents and leads to substantial disability, reduced quality of life, and long-term health risks. Physical activity is central to treatment, but adherence to moderate-to-vigorous physical activity (MVPA) is inconsistent. We evaluated higher-resilience constructs-self-efficacy, pain acceptance, motivational stage, and affect-and hypothesized that higher resilience would be associated with greater objectively measured physical activity, better daily functioning, and higher quality of life in adolescents with CMSKP. Methods: Forty-three adolescents (13-18 years) with CMSKP completed measures of physical activity-specific self-efficacy, acceptance (AFQ-Y), motivational stage (PSOCQ-A), and affect (PANAS-C). Participants wore activPAL …


Using The Electronic Health Record To Facilitate Drug Allergy Delabeling., Matthew J Molloy, Adam P Yan, Averi E Wilson, Jonathan Beus, Lauren M Hess Oct 2025

Using The Electronic Health Record To Facilitate Drug Allergy Delabeling., Matthew J Molloy, Adam P Yan, Averi E Wilson, Jonathan Beus, Lauren M Hess

Faculty, Staff and Students Publications

Purpose of review: There is a growing number of allergy delabeling programs across diverse clinical specialties and care settings. The electronic health record (EHR) can be leveraged to facilitate allergy delabeling. The purpose of this review is to describe EHR tools that have been used in allergy delabeling programs. We also provide recommendations for organizations considering EHR-based allergy delabeling workflows that incorporate clinical informatics best practices.

Recent findings: Recent literature describes several EHR tools used in delabeling. These tools can be organized around the steps of the allergy delabeling workflow: 1. Identify eligible patients, 2. Risk stratify, 3. Evaluation and …


Understanding Short Stature In Pediatrics: Key Insight, Micahel Smith, Pratibha Rana Oct 2025

Understanding Short Stature In Pediatrics: Key Insight, Micahel Smith, Pratibha Rana

Pediatrics in Practice: A CME Podcast

In this episode of Pediatrics in Practice, Dr. Mike and Dr. Pratibha Rana from Children's Mercy unravel the complexities of caring for patients with short stature. They discuss common causes, evaluation techniques, and treatment approaches. Ideal for pediatricians, this episode highlights clinical decision-making tools for better patient outcomes.

Click here to stream the podcast episode.