Medical City Children's Hospital

Abstract Background Respiratory viral infections are a common cause of acute chest syndrome (ACS) in children with Sickle Cell Disease (SCD). Few studies have explored the role of parainfluenza virus (PIV) in this population. Hence, we aimed to describe the characteristics and clinical outcomes of PIV infection in patients with SCD. Methods This single-center study was conducted at St. Jude Children’s Research Hospital, included SCD children aged 21 years or younger who tested positive for PIV between 2014 and 2024. Data on demographics, clinical characteristics, treatment, and clinical outcomes were collected from electronic medical records. Results A total of 143 patients with SCD were included in the study, with 199 episodes of PIV documented. The cohort (n=143) was predominantly Black and non-Hispanic (98%) (Table 1). The median age was 3 years (range, 0-19). The most common PIV was PIV3 (52%), followed by PIV4 (27%), PIV2 (20%) and PIV1(19%). 29% of the episodes had more than one respiratory viral infection. Most PIV episodes (86%) presented with upper respiratory tract infection (URTI), and approximately 12% developed ACS. More than quarter of the episodes (n=56) required hospitalization due to PIV; one-third of these patients experienced extended hospitalization due to PIV (n=19), and a quarter (n=16) needed oxygen. One episode required admission to the intensive care unit (ICU) (Table 2). Conclusion The findings highlight that PIV infections primarily manifest as upper respiratory tract infections, with some progressing to ACS. While most cases were managed without hospitalization, many required inpatient care, with some requiring extended hospital stays and oxygen support. Further research is needed to develop targeted interventions and optimize care strategies for SCD patients with PIV infections, potentially reducing complications and improving outcomes. Disclosures Randall Hayden, MD, Abbott: Board Member|Abbott: Serving on the advisory board|Cepheid: Board Member|Cepheid: Serving on the advisory board|Roche Diagnostics: Advisor/Consultant|Roche Diagnostics: Board Member|Roche Diagnostics: Serving on the advisory board

Cerebral arteriovenous malformations (AVMs) are congenital vascular abnormalities that can lead to neurological impairments following rupture. This proof-of-concept case report examines the integration of the Monitored Augmented Rehabilitation System (MARS), an immersive virtual gaming platform, into a multidisciplinary rehabilitation program for a 12-year-old female recovering from a ruptured AVM. MARS was used as an adjunct modality alongside conventional interventions over a 4-week period to target functional outcomes as assessed by the Neurocom Balance Manager®. Quantitative results demonstrated targeted functional gains: Directional Control during the Limits of Stability test increased from 66% to 73%, toes-up Adaptation Test scores improved from 104.2 to 116.2, and toes-down scores from 115.6 to 119.0. Clinically observed increases in engagement, motivation, and adherence were noted during therapy sessions. This report underscores the feasibility and clinical potential of MARS as a complementary tool for enhancing motor learning and functional outcomes in pediatric neurorehabilitation. Future research should focus on larger sample sizes and extended intervention periods to validate the efficacy of MARS in improving long-term recovery outcomes.

HighlightsWhat are the main findings?Not all routine images obtained exhibit sufficient quality and guidelines for image-based 3D model creation and quality assurance are notably absent.Understanding the fundamental tenets of image quality (spatial resolution, contrast, noise) gives rise to the recommendations and guidelines developed here.What is the implication of the main finding?When imaging is performed for the purpose of 3D modeling, image quality may need to be optimized above routine parameters and thin-section images must be archived.Even in the case of suboptimal imaging, 3D models can be created to facilitate surgical planning and patient/family education.Background: Three-dimensional (3-D) models are gaining interest for surgical planning in the field of pediatric surgical oncology. The diverse tumor types in pediatric patients and the non-uniform presentation and anatomy make 3D modeling in pediatric oncology particularly challenging. In addition, centers have variability in technique and experience with these approaches. Guidelines for model creation and quality assurance are notably absent. Objective: We developed national recommendations pertaining to image acquisition and model creation for 3-D renderings based on the existing literature and multidisciplinary expertise. Materials and Methods: The literature was critically appraised, and the authors developed minimum standard guidelines for imaging and modeling pediatric solid tumors. Strength of recommendation scores for each guideline were independently determined by the authors. Results: Twelve specific guidelines were developed and scored with overall strength of recommendation ranging from moderate to very strong. Guidelines focused on image acquisition were uniformly scored very strongly while scores for those pertaining to segmentation and model display were slightly less consistent. Conclusions: We propose minimum standards for image acquisition and modern 3-D modeling of pediatric solid tumors based on literature and expertise. The overall level of agreement among our multidisciplinary team was high.

Introduction: Infants with congenital heart disease (CHD) face challenges with feeding and nutrition. These infants have an increased rate of gastroesophageal reflux, delayed gastric emptying, and requiring tube feeding, in particular those who undergo surgical palliation. Our primary aim was to evaluate anti-reflux and pro-motility medication use among hospitalized infants with CHD. Methods: This was a retrospective multicenter analysis of infants <1 year of age with CHD at first admission to a center participating in the Pediatric Acute Care Cardiology Collaborative (PAC 3 ) registry. Patients with single ventricle (SV) and biventricular (BV) physiology were defined based on their surgical procedure codes for surgeries during the admission. Patients with extracardiac diagnoses relating to the gastrointestinal system were excluded. Groups were compared based on the use of the following medications at discharge: histamine H2 antagonists, proton pump inhibitors, antacids, metoclopramide, erythromycin ethylsuccinate, or amoxicillin/clavulanic acid. Summary and comparative statistics were performed. Results: From 2/2019 to 1/2025, 24,729 infants were included, of whom 9597 had undergone surgical intervention (16% SV, 84% BV). The overall frequency of anti-reflux or pro-motility medication use in this cohort of CHD patients was 38%. Patients discharged on these medications required elemental formula and tube-assisted feeds more frequently and had a longer acute care cardiology unit (ACCU) and total hospitalization length of stay (Table 1). SV patients were more likely to be on anti-reflux or pro-motility medications compared to BV patients. Similar findings were noted among SV patients receiving these medications at discharge compared to SV patients who were not (Table 2). SV patients discharged on anti-reflux or pro-motility medications had an increased growth velocity at the time of discharge compared to their counterparts. Conclusion: Patients with SV CHD, those on elemental formula, tube assisted feeding and those with longer length of stays are more likely to be discharged on anti-reflux or pro-motility medications. An interesting finding is the positive association of the use of these medications with growth velocity prior to discharge specifically among SV patients. This suggests that these infants may have additional benefit from utilization of these medications at discharge.

Introduction/Background: Pulmonary hypertension (PH) is a frequent complication of congenital heart disease (CHD) that is estimated to account for 30-50% of pediatric group 1 PH patients, as defined by the World Symposium on Pulmonary Hypertension. Despite advancements in the field, many of the targeted therapies are understudied in the pediatric CHD population. While prior studies examined practice patterns in dedicated PH programs, medication use across pediatric heart centers with varying access to PH specialists and resources remains unclear. Research Questions/Hypothesis: Institutional site membership to Pediatric Pulmonary Hypertension Network (PPHNet) influences practice patterns in PH medication use in acute care cardiology units at participating Pediatric Acute Care Cardiology Collaborative (PAC 3 ) centers. Methods/Approach: PAC 3 registry data (2019–present) were analyzed for patients admitted to a participating ACCU with a PH diagnosis or who received new or chronic PH therapy during a PAC 3 encounter. Centers were grouped by institutional site membership to PPHNet. Summary and comparative statistics were performed. Results/Data: There were 10,223 encounters from 4,468 unique patients (94% with CHD) across 34 PAC 3 centers; 9 centers (26%) were PPHNet members, accounting for 41% of encounters. Phosphodiesterase-5 inhibitors (PDE5-i) were the most used PH medication, followed by endothelin receptor antagonists (ERAs). PDE5-i monotherapy was the most common treatment regimen (81.7% of encounters), followed by dual therapy with PDE5-i + ERA (9.6%) and triple therapy with PDE5-i + ERA + prostacyclin (4.6%). Among patients with CHD, 2.4% involved triple therapy. Compared to non-PPHNet centers, PPHNet centers used fewer PDE5-i but more ERAs and prostacyclins (Table 1). PPHNet centers exhibited a higher frequency of dual and triple PH therapies compared to non-PPHNet centers, while monotherapy was more prevalent in non-PPHNet centers (Table 2). Conclusions: PH monotherapy was more common in non-PPHNet participating centers while multi-drug PH regimens were more frequently used at PPHNet participating centers. Practice variations exist in the use of PH medications in participating PAC 3 centers who are PPHNet institutional site members compared to non-PPHNet members, suggesting differing practice patterns in centers with a larger PH presence.

BackgroundLate-onset Fuchs’ endothelial corneal dystrophy (FECD) is a degenerative disease of cornea manifesting during the fourth decade of life or later. An intronic trinucleotide repeat expansion (CTG18.1) in the transcription factor 4 (TCF4) gene is estimated to account for two thirds of FECD cases. There is a high degree of similarity between the transcriptomic profiles with (RE+) and without (RE-) the expansion. The molecular mechanisms of FECD and the difference between the two FECD types remain to be elucidated.MethodAnalyses were based on publicly available RNA sequencing datasets of human corneal endothelial tissues. We compared the distributions of differentially expressed genes between the RE+ and RE- transcriptomic profiles for a given co-expression network module. Upstream regulator analysis, alternative splicing analysis, motif enrichment analysis, and structure prediction were conducted.ResultsThe expression levels of ribonucleic acid binding motif protein 20 (RBM20) were upregulated in both RE+ cases and RE+ controls. Consistently, its motif was enriched in the skipped exon events of RE+ subjects compared with RE- subjects. There were skipped exon events in three genes—DST, FNBP1 and SORBS1— consistently identified in RE+ subjects out of the documented RBM20 target genes in the literature.ConclusionRBM20 may represent an RE+ specific factor in the pathogenesis of FECD. The increase of RBM20 expression in RE+ individuals may contribute to the disease by repressing the inclusion of exons.