Medicine and Health Sciences Commons^™

Seeg-Guided Responsive Neurostimulation To Treat Neocortical Epilepsy: A Multicenter Retrospective Study Of The Efficacy And Safety Of Depth Electrode-Mediated Neuromodulation, Sina Sadeghzadeh, Jon T Willie, Et Al.

2020-Current year OA Pubs

OBJECTIVES: Pivotal trials have established the effectiveness of the Responsive Neurostimulation System (RNS® System) in treating focal epilepsy. In clinical trials, depth leads were primarily used to treat mesial temporal seizure onsets while cortical strip leads were used to treat neocortical seizure onsets. Here, we systematically analyze the safety and efficacy of stereoelectroencephalography (sEEG)-guided depth leads to provide responsive stimulation to neocortical gray matter.

METHODS: Patients were stratified as strong responders (>median cohort seizure reduction %), weak responders (>0% and ≤median cohort seizure reduction %), and anti-responders (≤0%) based on percent seizure reduction at 1 year post-implant (1-Y). …

Leveraging The Pedsnet Clinical Research Network And Electronic Health Record Data To Enhance Efficiency Of Trial Enrollment For A Rare Pediatric Rheumatic Disease, Pamela F Weiss, Levon Utidjian, Mitchell Maltenfort, Hanieh Razzaghi, Timothy G Brandon, Cassandra Muir, Cora Sears, Edward J Oberle, Jennifer Cooper, Kevin Baszis, Mary B Toth, Esi M Morgan, Christopher B Forrest

2020-Current year OA Pubs

BACKGROUND: We evaluated the PEDSnet clinical research network for study enrollment of juvenile spondyloarthritis, a rare rheumatic disease that includes enthesitis-related arthritis (ERA) and psoriatic arthritis (PsA). METHODS: An electronic health record (EHR)-based typology was developed by an interdisciplinary team to query EHR data for a spectrum of pediatric rheumatic diseases (2009–2023) from 8 PEDSnet centers. The prevalence, characteristics and drug exposures for juvenile spondyloarthritis was explored to gauge feasibility of leveraging the network for study enrollment. Next, the typology was adapted to identify subjects for a clinical trial; the efficiency of EHR typology query was compared to standard screening …

Nutrition Assistance Programs And Pediatric Weight Outcomes: A Systematic Review, Dan Ferris, Genevieve Davison, Tyler Frank, Amanda Gilbert, Fanice Thomas, Sydney Rothman, Kim Lipsey, Sarah Moreland-Russell

2020-Current year OA Pubs

BACKGROUND/OBJECTIVES: Food insecurity and pediatric obesity have increased concurrently in the U.S., raising questions about the role of Federal Nutrition Assistance Programs (FNAPs) in shaping weight outcomes. This systematic review examined evidence on relationships between FNAP participation and pediatric weight outcomes.

METHODS: Six databases were searched for U.S.-based, peer-reviewed studies published through July 2024 that assessed FNAP participation and pediatric weight outcomes.

RESULTS: Seventy-five studies met the inclusion criteria, and no consistent pattern indicated that any single FNAP or program type (educational setting-based or direct financial support) reliably reduced or increased childhood overweight or obesity risk. Twenty studies found statistically …

Impact Of Social Vulnerability On Glycemic Control And Diabetes Technology Use In Youth With Type 1 Diabetes, Nicholas R Banull, Melanie Bryan, Stephen I Stone, Hope Shimony, Amanda Ingram, Ana María Arbeláez

2020-Current year OA Pubs

BACKGROUND: Diabetes technology has been shown to improve glycemic control in people with type 1 diabetes (T1DM). Despite their benefits, these technologies are used less frequently by youth from lower socioeconomic backgrounds and racial minorities worldwide. This study aimed to examine the relationship between social vulnerability, disparities in diabetes technology use, and glycemic control in youth with T1DM. METHODS: This retrospective billing code analysis included 1,460 patients with T1DM, aged ≤ 23 years old, who were seen at a large academic diabetes center in the Midwest between January 2020 and April 2022, before the expansion of insurance coverage for diabetes …

De Novo Variants In The Splicing Factor Gene Sf3b1 Are Associated With Neurodevelopmental Disorders, Kevin Uguen, Tiffany Bergot, Marie-Pier Scott-Boyer, Solène Chapalain, Camille Desdouets, Séverine Commet, Changlian Zhu, Yiran Xu, Yangong Wang, Tony Roscioli, Frederic Tran-Mau-Them, Laurence Faivre, Julien Maraval, Julian Delanne, Anne-Sophie Denommé-Pichon, Antonio Vitobello, Céline Jost, Marc Planes, Susan Hiatt, Patricia Wheeler, Claudia Gonzaga-Jauregui, Heng Wang, Baozhong Xin, Valerie Sency, Michael C Kruer, Somayeh Bakhtiari, Patrick Sulem, Cynthia Curry, Trine Prescott, Gertrud Strobl-Wildemann, Theresa Brunet, Martine Doco Fenzy, Thomas Courtin, Céline Poirsier, Trine Bjørg Hammer, Christina D Fenger, Melissa Macpherson, Kosuke Izumi, Jacqueline Leonard, Dong Li, Elaine H Zackai, Ian A Glass, Scott Ward, Philippe M Campeau, Maria Carla Hermida Borroto, Laurence Le Moigno, Hilde Van Esch, Liesbeth De Waele, Daniel G Calame, James R Lupski, Giulia Barcia, Cristina Peduto, Pauline Planté-Bordeneuve, Lucie Dupuis, Roberto Mendoza-Londono, Dimitri J Stavropoulos, Jennifer Gillibert-Duplantier, Thomas Besnard, Laura Do Souto Ferreira, Benjamin Cogné, Stéphane Bézieau, Arnaud Droit, Laurent Corcos, Eric Lippert, Claude Férec, Sebastien Küry, Delphine G Bernard

Faculty, Staff and Students Publications

SF3B1 is an essential and ubiquitous splicing factor that plays a pivotal role in the early steps of pre-mRNA splicing. Recurrent somatic missense mutations in SF3B1 are frequent in cancers, but no constitutional variant has been reported so far. We describe here a cohort of 26 individuals with neurodevelopmental disorders, harbouring SF3B1 constitutional heterozygous variants that appeared mostly de novo. Patients present with a global developmental delay, associated with variable neurological and facial dysmorphic traits. A dichotomy may emerge between patients harbouring predicted loss of function (n = 9) and missense variants (n = 17), the latter being associated with …

Two Axes Of White Matter Development, Audrey C Luo, Deanna M Barch, Et Al.

2020-Current year OA Pubs

Despite decades of neuroimaging research, how white matter develops along the length of major tracts in humans remains unknown. Here, we identify fundamental patterns of white matter maturation by examining developmental variation along major, long-range cortico-cortical tracts in youth ages 5-23 years using diffusion MRI from three large-scale, cross-sectional datasets (total N = 2716). Across datasets, we delineate two replicable axes of human white matter development. First, we find a deep-to-superficial axis, in which superficial tract regions near the cortical surface exhibit greater age-related change than deep tract regions. Second, we demonstrate that the development of superficial tract regions aligns …

Disease-Specific And Overall Survival For Patients With Lacrimal Gland Adenoid Cystic Carcinoma In Recent Decades, Bita Esmaeli, Zhouxuan Li, Tracy J Lu, Hila Goldberg, Jing Ning, James Matthew Debnam, Steven Jay Frank, Renata Ferrarotto

Faculty, Staff and Student Publications

Purpose: To evaluate the presenting symptoms, and the overall survival (OS) and disease-specific survival (DSS) in patients with lacrimal gland adenoid cystic carcinoma (LGACC).

Methods: This retrospective single-centre cohort study included all consecutive patients with LGACC treated by the primary author from November 1998 through August 2024. Demographic data, presenting symptoms, the histological subtype of LGACC, type of surgical treatment, adjuvant radiotherapy or chemotherapy, T category at presentation and survival data were reviewed. Correlations between histological subtypes, T-category, type of surgery (eye sparing vs orbital exenteration), and DSS and OS were analysed.

Results: 52 patients had a median age of …

Evaluation Of Adalimumab Tapering Regimens In Children And Adolescents With Juvenile Idiopathic Arthritis In Remission: A Simulation Study, Dominic S Bräm, Verena Gotta, Gilbert Koch, Klervi Golhen, Andreas Woerner, Andrew Atkinson, Johannes N Van Den Anker, Marc Pfister, Tatjana Welzel

2020-Current year OA Pubs

BACKGROUND: Adalimumab (ADM) in children with juvenile idiopathic arthritis (JIA) is usually dosed using fixed weight-based bands (label dosing: 20 mg for <  30 kg, 40 mg for ≥ 30 kg) every other week (EOW). This has been shown to result in higher exposure after remission than targeted in adult patients with rheumatic diseases (trough concentrations of 2–8 mg/L) suggesting possibility of treatment adjustments and tapering, particularly in children weighing 30 to 50 kg. A pharmacometric simulation study was performed to evaluate different ADM dosing regimens supported by therapeutic drug monitoring (TDM) to provide insights for JIA management in remission. METHODS: This simulation study used a previously established pharmacokinetic ADM model. Simulation scenarios included dose reduction to 30 mg in children 30 to 50 kg and interval extension from 14 to 21 or 28 days. To further personalize ADM dosing and avoid exposure above predefined target range, TDM-guided tapering within mentioned simulation scenarios was investigated, i.e., adjusting dosing interval in children and adolescents whose ADM trough concentrations were above the upper limit of the predefined ADM target range of 9 mg/L. Proportions of virtual patients within the extrapolated target exposure range from adults including a safety-margin, i.e., 4–9 mg/L, were assessed and compared to label dosing, stratified by body weight. RESULTS: In children and adolescents with JIA weighing 30 to 50 kg both, dose interval extension to 21 days and dose reduction to 30 mg EOW increased proportion of patients within predefined target range from 17 - 29% (label dose regimen) to 34–43% or 28–43%, respectively. TDM-guided tapering for patients with trough concentrations > 9 mg/L further increased proportion with target exposure to 56–63% while keeping the proportion of patients with trough concentrations <  2 mg/L similar to label dosing (≤ 2%). CONCLUSION: This simulation study suggests that ADM tapering, in children with JIA who reached remission, may be applicable. Appropriate ADM dose reduction or dose interval extension, especially when supported by TDM, could help to reduce treatment-related and socioeconomic burden, while minimize risk of underexposure. Provided simulation framework can be validated and further fine-tuned once paediatric exposure-response data and target ranges have been established.

Maturity-Onset Diabetes Of The Young (Mody) In A Racially/Ethnically Diverse Pediatric Population, Shilpi Relan, Guido Alarcon, Danielle Guffey, Charles G Minard, Mary E Fang, Kelly Timmons, Rona Y Sonabend, Mustafa Tosur, Maria J Redondo, Jennifer E Posey

Faculty, Staff and Students Publications

Context: Current practice guidelines recommend considering a diagnosis of maturity-onset diabetes of the young (MODY) in patients with diabetes with an affected parent but without typical features of type 1 or type 2 diabetes.

Objective: To test if these criteria apply to a real-world cohort of racially/ethnically diverse children with diabetes.

Methods: We performed a retrospective case review of electronic medical records of youth diagnosed with MODY in a large academic pediatric hospital in Southwestern United States. Cases were ascertained based on the identification of a molecular diagnosis of MODY.

Results: We studied 50 genetically confirmed cases of MODY: 60% …

The Impact Of Indigenous American-Like Ancestry On The Risk Of Acute Lymphoblastic Leukemia In Hispanic/Latino Children, Jalen Langie, Tsz Fung Chan, Wenjian Yang, Alice Y Kang, Libby Morimoto, Daniel O Stram, Nicholas Mancuso, Xiaomei Ma, Catherine Metayer, Philip J Lupo, Karen R Rabin, Michael E Scheurer, Joseph L Wiemels, Jun J Yang, Adam J De Smith, Charleston W K Chiang

Faculty, Staff and Students Publications

Acute lymphoblastic leukemia (ALL) is the most common childhood cancer, with Hispanic/Latino children having a higher incidence of ALL than other racial/ethnic groups. Among the genetic variants previously implicated in ALL risk, a number of them were found to be enriched in Indigenous American (IA)-like ancestries and inherited by many Hispanic/Latino individuals. However, due to potential confounding from environmental factors, the association between IA-like ancestry and risk for ALL has remained unclear. In this study, we characterized the impact of IA-like ancestry on overall ALL risk and on the frequency and effect size of known risk alleles, while accounting for …

An Integrated Single-Cell And Spatial Transcriptomic Atlas Of Thyroid Cancer Progression Identifies Prognostic Fibroblast Subpopulations, Matthew A Loberg, George J Xu, Sheau-Chiann Chen, Hua-Chang Chen, Claudia C Wahoski, Kailey P Caroland, Megan L Tigue, Heather A Hartmann, Jean-Nicolas Gallant, Courtney J Phifer, Andres A Ocampo, Dayle K Wang, Reilly G Fankhauser, Kirti A Karunakaran, Chia-Chin Wu, Maxime Tarabichi, Sophia M Shaddy, James L Netterville, Sarah L Rohde, Carmen C Solórzano, Lindsay A Bischoff, Naira Baregamian, Barbara A Murphy, Jennifer H Choe, Jennifer R Wang, Eric C Huang, Quanhu Sheng, Luciane T Kagohara, Elizabeth M Jaffee, Ryan H Belcher, Ken S Lau, Fei Ye, Ethan Lee, Vivian L Weiss

Faculty, Staff and Student Publications

Although well-differentiated thyroid carcinoma (WDTC) is characterized by a robust treatment response, aggressive subtypes, such as anaplastic thyroid carcinoma (ATC), remain highly lethal. To understand thyroid cancer evolution in both children and adults, we analyzed single-cell transcriptomes of 423,733 cells from 81 samples and spatially resolved key tumor and microenvironment populations across 28 tumors with spatial transcriptomics, including rare and unique composite WDTC/ATC tumors and pediatric diffuse sclerosing thyroid carcinomas. Additionally, we identified gene signatures of stromal cell populations in 5 large thyroid cancer bulk RNA-sequencing cohorts. Through this multi-institutional effort, we defined a population of POSTN+ myofibroblast cancer-associated fibroblasts …

Factors Affecting Detection And Quantification Of Schistosoma Haematobium Eggs In Pooled Urine Samples, Abraham Degarege, Bruno Levecke, Christopher R. Bilder, David Brett-Major, Abebe Animut, Yohannes Negash, M. Jana Broadhurst, Tzeyu L. Michaud, Berhanu Erko

Journal Articles: Epidemiology

BACKGROUND: Building on our previous work showing that pooled urine testing can rapidly detect Schistosoma haematobium infections but has limited sensitivity in low-intensity settings or with large pool sizes, this study evaluated how urine volume, pool size, infection intensity, and diagnostic method affect the detection and quantification of S. haematobium eggs in pooled samples.

METHODS: Between July 2022 and April 2023, 2,134 urine samples from school-age children living in three regional states of Ethiopia were individually examined by deploying urine filtration microscopy (UFM). Subsequently, 5, 10, 20 and 40 individual samples were strategically pooled and examined by deploying UFM and …

Excellent Outcomes In Feasibility Study Of Radiation-Free Conditioning And Transplant In Pediatric Severe Aplastic Anemia, Mithra Lakshmi Narasimhan, Irem Eldem, Jeffrey J Bednarski, Ginny L Schulz, Robert J Hayashi, Shalini Shenoy

2020-Current year OA Pubs

Severe aplastic anemia (SAA) is treated with a hematopoietic cell transplant (HCT) in the presence of an HLA-matched sibling donor (MSD) with disease-free survival (DFS) of >90%. In the absence of an MSD, immunosuppressive therapy (IST) can induce remission but concerns for relapsed/refractory disease and clonal hematopoiesis persist. IST failure is an indication for HCT. Modern HCT approaches target barriers such as graft rejection (GR), graft-versus-host disease (GVHD), and transplant-related toxicities. Traditionally, total body irradiation (TBI) inclusive HCT conditioning helps decrease GR, but the use of TBI in children increases concerns for late effects such as malignancies. To describe outcomes …

Progression Of Mild Sleep-Disordered Breathing In Children Managed With Watchful Waiting, Erin M. Kirkham, Stacey Ishman, Susan Garetz, Cristina M. Baldassari, Ron B. Mitchell, Christopher Liu, Ignacio E. Tapia, Lisa M. Elden, Fauziya Hassan, Sally Ibrahim, Kristie Ross, Mengqi Cen, Rui Wang, Susan Redline, Ronald D. Chervin

Department of Otolaryngology (ENT) Faculty Publications

Purpose

To identify clinical characteristics that may be associated with persistence or progression of mild sleep-disordered breathing (SDB) in children who are observed without surgery.

Methods

This is a secondary analysis of the control arm of the Pediatric Adenotonsillectomy Trial for Snoring (PATS), which randomized 458 children aged 3.0 to 12.9 years with mild SDB (snoring with obstructive apnea-hypopnea index [oAHI] <  3 events/hour) to early adenotonsillectomy (eAT) versus watchful waiting with supportive care (WWSC). Participants were assessed at baseline and 12 months with the Pediatric Sleep Questionnaire-Sleep-Related Breathing Disorder (PSQ-SRBD) scale and polysomnography (PSG). We tested for factors predictive of either (1) PSG progression defined by a 12-month oAHI ≥ 3 or (2) symptom persistence or progression defined by a 12-month PSQ-SRBD score ≥ 0.33.

Results

A total of 234 participants were observed (mean age 6.2 years, 111 [47%] female, 65 [28%] Black or African American, 37 [16%] Hispanic). Overall, only 13% (n = 20/150) progressed to an oAHI ≥ 3 on repeat PSG, …

The Mediating Effect Of Socioeconomic Status And Persistent Poverty On Racial And Ethnic Disparities In Pediatric Cancer Mortality In The United States, Josiane Kabayundo, Apu Das, Cheng Zheng, Emma Hymel, Krishtee Napit, Shinobu Watanabe-Galloway

Journal Articles: Epidemiology

BACKGROUND: Socioeconomic (SE) factors have been shown to mediate racial and ethnic disparities in adult cancer mortality. However, evidence in pediatric cancer is limited, especially at finer geographic levels.

OBJECTIVE: Evaluate the mediating effect of socioeconomic status (SES) and persistent poverty in racial and ethnic disparities in childhood cancer mortality using census tract-level data.

METHODS: Data were obtained from the 2006-2020 SEER Incidence Data with Census Tract Attributes Database and included children 0-19 years. Neighborhood-level SES was measured using a composite variable with five categories. Census tracts were classified as persistently poor if 20% or more of the population lived …

An Analysis Of Pediatric Retinoblastoma Medical Malpractice Litigation, Victoria Miller, Alyssa D. Reese, Katherine Foote, Alejandro Navarro, Andrew Galfano, Christian Hietanen

Department Surgery Faculty Publications

BACKGROUND: Retinoblastoma is a cancer of the retina that is most commonly diagnosed in the pediatric population. Unfortunately, this cancer can spread, leading to poor outcomes such as enucleation. The purpose of this study was to determine the characteristics of medical malpractice litigation associated with a diagnosis of retinoblastoma in the pediatric population.

METHODS: A search for all available cases associated with "retinoblastoma" in the Westlaw Campus Research Legal Database was conducted. This spanned from database inception to August 2023. Cases were included if there was a complaint of medical malpractice related to retinoblastoma present in a pediatric patient. Demographic …

Assessing The Impact Of The 2021 Vwd Guidelines On The Diagnosis/Management Of Low Vwf Patients, Michael Dong, Joanna Larson, Sepideh Saroukhani, Miguel Escobar, Lakshmi Srivaths

Faculty, Staff and Student Publications

Introduction: The 2021 ASH/ISTH/NHF/WFH VWD diagnosis guidelines recommend Type 1 VWD diagnoses for patients with (a) VWF < 0.30 IU/mL or (b) 'Low VWF' 0.30-0.50 IU/mL with the presence of abnormal bleeding. This recommendation recategorizes 'Low VWF' patients with abnormal bleeding into Type 1 VWD.

Aim: To assess the impact of the 2021 VWD guidelines on the diagnosis and management of 'Low VWF' patients.

Methods: A single centre retrospective study was conducted to review all patients presenting for VWD evaluation between January 2000 to September 2024, analyzing for clinical features, ISTH-BAT scores, VWF/FVIII levels, and management of bleeding. 149 patients, totalling 305 clinical encounters, were included in the study.

Results: Seventy five percent of patient encounters had a change in diagnosis from 'Low VWF' to Type 1 VWD …

Health Insurance As A Mediator Of Neighborhood Deprivation And Pediatric Cancer Survival: An Analysis Of State Cancer Registry Data, Emma Hymel, Cheng Zheng, Jenna Allison, Kendra L. Ratnapradipa, Edward S. Peters, Sarah H. Nash, Mei-Chin Hsieh, Shinobu Watanabe-Galloway

Journal Articles: Epidemiology

INTRODUCTION: To develop interventions to reduce neighborhood-level disparities in pediatric cancer outcomes, it is necessary to understand their underlying mechanisms. It has been suggested that individual-level health insurance is a mediator of neighborhood deprivation and pediatric cancer survival.

METHODS: This study was a population-based longitudinal study of children with cancer from 2000 to 2020 in the Iowa Cancer Registry and Louisiana Tumor Registry. Neighborhood deprivation was measured using the Area Deprivation Index. Log-binomial regression models were used to identify predictors of health insurance status at diagnosis. Cox regression models were used to assess the association between health insurance status at …

35 Individuals With Huwe1-Related Neurodevelopmental Disorder And Suggested Clinical Evaluations, Mindy H. Li, Deziree L. Coleman, Kelsey Hogan, Danielle Luz, Lindsay Bhandari, Newell Belnap, Tiffany Busa, Charles Coutton, Klaus Dieterich, Svetlana Gorokhova, Clara Hildebrandt, Rachel Logan, Milena Mariani, Manuela Morleo, Vincenzo Nigro, John Pappas, Rachel Rabin, Kelly Schoch, Angelo Selicorni, Vandana Shashi, Rebecca Spillman, Jennifer Sullivan, Charlotte Tardy, Samantha A. Schrier Vergano, Brock Grill, Kristin Baranano

Department of Pediatrics Faculty Publications

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with variants in HUWE1 and suggested guidelines for clinical management. Our study includes several female cases, which have not been widely reported previously. Our findings confirm earlier reported clinical features including developmental delay, autism, hypotonia, short stature, and dysmorphic facial features as well …

Behavioral And Psychological Financial Hardship Among Caregivers Of Pediatric Cancer Patients, Josiane Kabayundo, Cheng Zheng, Edward S. Peters, Don W. Coulter, Shinobu Watanabe-Galloway

Journal Articles: Epidemiology

BACKGROUND: Financial hardship encompasses material, behavioral, and psychological domains; however, most research among caregivers of pediatric cancer patients has focused on material hardship. This study examined factors associated with behavioral and psychological financial hardship among caregivers of pediatric cancer patients in Nebraska.

METHODS: We conducted a cross-sectional survey of caregivers of children diagnosed within the past 5 years and treated at two pediatric oncology specialty clinics. Behavioral hardship was defined as delaying medical or mental healthcare due to cost, while psychological hardship was measured by worry about ability to pay medical bills. Descriptive statistics and poisson regression with robust variance …

Ash/Isth 2026 Guidelines For Anticoagulant Prophylaxis In Pediatric Patients At Risk Of Venous Thromboembolism, Marisol Betensky, Muayad Azzam, Rachel Bercovitz, Rukhmi V. Bhat, Tina Biss, Brian Branchford, Leonardo R. Brandão, Anthony K.C. Chan, E. Vincent S. Faustino, Qais Hamarsha, Julie Jaffray, Sophie Jones, Hassan Kawtharany, Bryce A. Kerlin, Jana Khawandi, Grace Krider, Nicole Kucine, Riten Kumar, Christoph Male, Paul Monagle, Marie-Claude Pelland-Marcotte, Leslie Raffini, Chittalsinh M. Raulji, Sarah E. Sartain, Clifford M. Takemoto, Cristina Tarango, C. Heleen Van Ommen, Maria C. Velez, Sarak Vesely, John Wiernikowski, Suzan Williams, Hope P. Wilson, Gary Woods, Reem A. Mustafa

Journal Articles: Pediatrics

High-quality data on anticoagulant prophylaxis for pediatric VTE prevention are scarce. Key research priorities include the development and validation of subgroups-specific VTE risk assessment models, and evaluation of the safety and efficacy of risk-stratified anticoagulant prophylaxis strategies across different pediatric subgroups.

BACKGROUND: Venous thromboembolism (VTE) is a significant cause of morbidity in children, particularly among hospitalized patients and those with chronic medical conditions. There is a lack of consensus on anticoagulant prophylaxis strategies.

OBJECTIVE: These evidence-based guidelines from the American Society of Hematology (ASH) and the International Society on Thrombosis and Haemostasis (ISTH) are intended to support patients and health …

Tezepelumab's Effects On Patient-Reported Symptoms In Severe Asthma, Overall And With History Of Comorbid Chronic Rhinosinusitis With Nasal Polyps (Crswnp), Njira L. Lugogo, Joseph K. Han, Anju T. Peters, Stella E. Lee, Monica Kraft, Mary Kay Margolis, Sonia F. Shenoy, Nicole Martin, Shradha Chandarana, Christopher S. Ambrose

Department of Otolaryngology (ENT) Faculty Publications

Background

Tezepelumab (an anti-thymic stromal lymphopoietin monoclonal antibody) treatment resulted in reduced exacerbations and improved sino-nasal symptoms and health-related quality of life in patients with severe uncontrolled asthma (SUA) and chronic rhinosinusitis with nasal polyps (CRSwNP) in the NAVIGATOR study.

Objective

To evaluate the effect of tezepelumab versus placebo on sleep disturbances, activity levels, and physical exertion tolerance in NAVIGATOR patients with SUA overall and in those with past medical history of comorbid CRSwNP.

Methods

Patients (12-80 years old) with SUA were randomized to receive tezepelumab 210 mg or placebo subcutaneously every 4 weeks for 52 weeks. Patient responses to …

Once-Weekly Navepegritide In Children With Achondroplasia: The Approach Randomized Clinical Trial, Ravi Savarirayan, Ciara Mcdonnell, Carlos A Bacino, Daniel G Hoernschemeyer, Janet M Legare, M Jennifer Abuzzahab, Paul L Hofman, Philippe M Campeau, Josep Maria De Bergua Domingo, Leanne M Ward, Kevin Smit, Alden Smith, Meng Mao, Michael S Ominsky, Lærke C Freiberg, Aimee D Shu, Hanne B Hove

Faculty, Staff and Students Publications

Importance: Historically considered a skeletal dysplasia characterized by disproportionate short stature, achondroplasia is a condition with multisystemic effects due to the widespread expression of the fibroblast growth factor receptor 3 variant throughout the body, impacting muscle, neurological function, cardiorespiratory health, and health-related quality of life.

Objective: To evaluate the efficacy, safety, and tolerability of once-weekly navepegritide, an investigational prodrug of C-type natriuretic peptide, while assessing benefits beyond growth that may have important implications for complications and health-related quality of life in children with achondroplasia.

Design, setting, and participants: Enrollment for this pivotal phase 2b, randomized, double-blind, placebo-controlled trial (APPROACH) was …

Case Series Of Nizon-Isidor Syndrome By Heterozygous Variants In Med12l With Further Evidence Of Mitotic Instability In One Case With Diploid-Triploid Mosaicism, Russell Stewart, Kimberly M Ezell, Deanna S Bell, Brian Corner, Ashley Mcminn, Joy D Cogan, Rizwan Hamid, Lynette Rives, John A Phillips, Nina Paddu, Gitanjali Srivastava, Ronit Marom, Farah A Ladha, Claudia Soler-Alfonso, Rachel Franciskovich, Mary Koziura, Sumit Pruthi, Gabriele Richard, Christina B Sheedy, Undiagnosed Diseases Network, Thomas Cassini

Faculty, Staff and Students Publications

Nizon-Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7-year-old female who presented with developmental delay, right-leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin pigmentation, sectoral iris hypopigmentation, dysphagia, periventricular nodular heterotopia, seizures, morbid obesity, and a pelvic kidney. Genome sequencing (GS) revealed a MED12L variant, NM_053002.5:c.3559+2T>G. Both computational models and transcriptomic analysis confirmed that this variant induced splice loss of MED12L exon 25. Probands 2 and 3 presented with overlapping phenotypes of developmental delay; sequencing …

A Review Of Current Research And Barriers To Access: Exploring Disparities In Pediatric Epilepsy Surgery, Nikita Das, Ali A Mohamed, Akshat Katyayan, Meena Vessell

Faculty, Staff and Students Publications

Background: Drug-resistant epilepsy (DRE) impacts at least 30% of pediatric epilepsy patients, adversely affecting neurodevelopment and quality of life, as well as risk of sudden unexplained death in epilepsy (SUDEP). While surgical intervention has proven to be an effective treatment for DRE, disparities in access to surgical care persist. Compared to adults, pediatric patients face unique challenges, including delayed recognition of surgical candidacy, limited access to specialized epilepsy centers, complex care coordination, and socioeconomic barriers.

Summary: This review explores the current state of pediatric epilepsy surgery, highlighting its effectiveness in achieving seizure freedom, improving neurocognitive outcomes, and reducing long-term healthcare …

Comparing Rotational Thromboelastometry And Standard Coagulation Assays For Predicting Intraoperative Bleeding In Pediatric Liver Transplantation, Kirby Deshotels, Trung Nguyen, Jun Teruya, Muhammed Umair M Mian, Kelby Fuller, Sanjiv Harpavat, Anna Banc-Husu, Amir Navaei, John Goss, Moreshwar Desai, Arun Saini

Faculty, Staff and Students Publications

Background: Utility of preoperative rotational thromboelastometry (ROTEM) over standard coagulation assays (SCAs) in predicting intraoperative bleeding during orthotopic liver transplantation (OLT) in children with liver failure (LF) remains unclear.

Methods: In this single-center retrospective cohort of pediatric OLT recipients, we compared the predictive values of preoperative ROTEM parameters (intrinsic pathway (INTEM) maximum clot firmness (MCF), extrinsic pathway (EXTEM) clotting time (CT), INTEM CT, and fibrinogen-based (FIBTEM) MCF) and the corresponding SCAs (platelet count, international normalized ratio (INR), activated partial thromboplastin time (aPTT), and fibrinogen level, respectively) for significant intraoperative bleeding (blood loss of > 22 mL/kg; i.e., ≥ 85th percentile for …

Hemispherotomy For Drug-Resistant Epilepsy In A Low-Resource Setting: Surgical Outcomes And Quality Of Life In 23 Children Treated In A Hybrid Program In Panama, Emmajane G Rhodenhiser, David Bonda, Carmen Baez, Hannah K Weiss, Yosef Dastagirzada, Guzman Aranda, Laurent Bruggeman, Ameeta Grover, Shaun D Rodgers, Ruben Kuzniecky, Yvonne Zelenka-Kuzniecky, Howard L Weiner, Eveline Teresa Hidalgo

Faculty, Staff and Students Publications

Introduction: Hemispherotomy is an effective treatment for children with drug-resistant epilepsy (DRE). While hemispherotomy techniques and indications have evolved, access remains predominantly constrained to high-resource settings.

Methods: We performed a retrospective analysis of children who underwent hemispherotomy from 2011 to 2023 by a hybrid team, including local Panamanian and US neurologists, neurosurgeons, and EEG technicians and analyzed surgical, epilepsy, and quality of life (QoL) parameters. Follow-up data were collected according to the International Consortium for Health Outcomes Measurement (ICHOM) guidelines for children with epilepsy.

Results: Twenty-three children underwent hemispherotomy. The median age at surgery was 10 years (range 2-20). The …

Cross-Sectional And Longitudinal Relationships Between Abdominal Fat Depots And Cardiometabolic Risk In A Sample Of Mexican Adolescents, Luis Ortíz-Hernández, Erica G Soltero, Miguel Camejo, Jesús Valdes

Children’s Nutrition Research Center Staff Publications

Background: The relationship between abdominal fat depots and cardiometabolic risk among youth is inconclusive due to the cross-sectional nature of existing studies and limitations in assessment methods. In this study, we examined cross-sectional and longitudinal associations of subcutaneous adipose tissue (SAT) and visceral adipose tissue (VAT) with cardiometabolic risk indicators among Mexican adolescents.

Methods: Participants (n = 169 at baseline and 134 at follow-up) were assessed for diastolic or systolic blood pressure (DBP or SBP), total cholesterol (TC), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), triglycerides, glucose, and insulin. VAT and SAT were measured using magnetic resonance imaging. Measures …

Sustainable Community-Wide Model To Enhance Cancer Data Usage And Utility, Emily S Boja, Mousumi Ghosh, Ying Huang, Tung-Shing Mamie Lih, Rawan Shraim, Gregory Wheeler, Diana Thomas, Rakesh Khanna, Stephanie Sandor, Jinghui Zhang, Sapna Oberoi, Nicolas J Llosa, Aditya Suru, Fernanda Silva Michels, Eric Durbin, Anna Fernandez, Lucy Han, James Galbraith, Yin Lu, Brian Furner, James H Tanis, Michael Watkins, David Higgins, Gavriel Matt, Xin Zhou, Yang Li, Marcin Cieslik, Jamie Estill, Michael Sierk, Yanling Sun, Weiping Ma, Joseph Flores-Toro, Freddie Pruitt, Subhashini Jagu, Elmer A Fernández, Daniela Orschanski, Stephanie J Spielman, Jaclyn Taroni, Trinh Nguyen, Brian Capaldo, Erin Beck, Tanja Davidsen, Johanna Goderre Jones, Minghong Ward, Anne Sturcke, Jennifer M Torres Del Valle, Sean Hanlon, Danielle Daee, Brandon Wright, Nathaniel Boyd, Heather Basehore, Liang Liu, Ying Hu, Daoud Meerzaman, Huiqing Li, Ying Wu, Gregory H Reaman, Erin Rudzinski, Jack F Shern, Brigitte Widemann, Warren Kibbe, Jaime Guidry Auvil

Children’s Nutrition Research Center Staff Publications

Despite vast investments in data collection, generation, and sharing from childhood cancer studies, for example, Gabriella Miller Kids First Research Program, Childhood Cancer Data Initiative, and other efforts, secondary use of data remains a challenge especially for rare diseases. The National Cancer Institute (NCI) Office of Data Sharing (ODS) aimed to promote FAIR (Findable, Accessible, Interoperable, Reusable) data sharing practices to enhance data utility, accelerate discovery, and foster interdisciplinary collaboration. NCI ODS launched its inaugural Data Jamboree focusing on childhood cancer alongside its third Annual Symposium in September 2025. Over 120 participants with diverse backgrounds coalesced into 23 multidisciplinary teams …

What Do Youth Need To Know About Puberty? A Scoping Review Protocol To Identify Puberty Education Competencies, Marie A Brault, Nanki Singh, Nikita Kakkad, Melissa Peskin, Anthony Betori, Gregory Laynor, Emily Naiser

Faculty, Staff and Student Publications

INTRODUCTION: Puberty is a key transition point in adolescents' lives that plays a foundational role in shaping health behaviors and outcomes across one's life course. This period holds significant potential to empower adolescents and support autonomy in health and well-being, but limited puberty education curricula exist for early adolescents (age 8-14), and those that do exist vary in content. There is a paucity of evaluations of puberty competencies and limited consensus on what competencies should be measured to assess effectiveness or even how to measure these competencies.

OBJECTIVE: The objective of this scoping review is to systematically map and characterize …