Defining variances in practice for use of electrophysiology studies in risk stratification of patients with repaired tetralogy of Fallot: a PACES survey.

Sudden cardiac death poses a significant risk in patients with surgically repaired tetralogy of Fallot. Despite extensive research, risk stratification practices vary. This study surveyed the Pediatric and Adult Congenital Electrophysiology Society to identify these differences.

SOX17-Associated Pulmonary Hypertension in Children: A Distinct Developmental and Clinical Syndrome.

Objective: To characterize clinical, hemodynamic, imaging, and pathologic findings in children with pulmonary arterial hypertension (PAH) and variants in SRY-box transcription factor 17 (SOX17), a novel risk gene linked to heritable and congenital heart disease-associated PAH.

Study Design: We assembled a multi-institutional cohort of children with PAH and SOX17 variants enrolled in the Pediatric Pulmonary Hypertension Network (PPHNet) and other registries. Subjects were identified through exome and PAH gene panel sequencing.

A retrospective multicenter study of operating room extubation and extubation timing after cardiac surgery.

Background: In an effort to enhance recovery after cardiac surgery, intraoperative extubation has been targeted as possibly beneficial. This multicenter cohort study aimed to assess this by evaluating the outcomes of operating room (OR) extubation versus extubation within 6 hours of intensive care unit (ICU) arrival (early ICU extubation). Furthermore, we assessed time to ICU extubation and mortality and morbidity.

A Cricopharyngeal Bar as an Underrecognized Finding in an Adolescent with Eosinophilic Esophagitis.

A 16-year-old Caucasian male with previously diagnosed eosinophilic esophagitis (EoE) 4 years before his initial visit to an allergist-immunologist, scheduled due to severe dysphagia and recurrent food impaction. He had been off EoE therapy for 1 year. After resuming inhaled fluticasone and a proton pump inhibitor (PPI), esophagogastroduodenoscopy (EGD) was immediately scheduled.

Efficacy and safety of macitentan in Fontan-palliated patients: 52-week randomized, placebo-controlled RUBATO Phase 3 trial and open-label extension.

Objectives: The efficacy and safety of macitentan, an endothelin receptor antagonist, were assessed in a 52-week, prospective, multicenter, double-blind, randomized, placebo-controlled, parallel-group study assessing the efficacy and safety of macitentan in Fontan-palliated adult and adolescent patients (RUBATO-DB) and an open-label extension trial (RUBATO-OL).

Methods: Patients aged 12 years and older with New York Heart Association functional class II or III underwent total cavopulmonary connection more than 1 year before screening and showed no signs of Fontan failure/clinical deterioration. In RUBATO-DB, the primary efficacy end point was change in peak oxygen consumption from baseline to week 16; secondary end points were change from baseline over 52 weeks in peak oxygen consumption and change in mean count/minute of daily physical activity via accelerometer from baseline to week 16.

Over-the-scope clip for closure of persistent gastrocutaneous fistula after gastrostomy tube removal: a multicenter pediatric experience.

Background: Percutaneous endoscopic gastrostomy is commonly used for enteral nutritional access, but gastrocutaneous fistulae (GCF) may persist after tube removal, posing clinical challenges. The use of endoscopic closure devices, including over-the-scope clips (OTSC), has shown promise in managing non-healing fistulae, although data in the pediatric population are limited.

Methods: A retrospective multicenter study analyzed pediatric patients who underwent GCF closure following gastrostomy tube removal.

Health care transition models in spina bifida care: evidence-based lessons in support of neurosurgical practice.

Objective: The purpose of this study was to conduct a literature review on transition programs from pediatric to adult care and the role of neurosurgery as individuals with spina bifida (SB) transition, and to provide a framework for neurosurgical providers to assist in the transition to adult-centered care.

Methods: A comprehensive literature review was conducted according to the PRISMA statement, with a search in Medline and Embase to identify US clinical programs reporting on their experiences establishing a transition program for adolescents and young adults with SB. Data were collected for authors, year, transition clinic location, model of care for transition clinic, ages served, and specialty clinical team.

Reduced Likelihood of Hospitalization With the JN.1 or HV.1 Severe Acute Respiratory Syndrome Coronavirus 2 Variants Compared With the EG.5 Variant.

Within a multistate viral genomic surveillance program, we evaluated whether proportions of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infections attributed to the JN.1 variant and to XBB-lineage variants (including HV.1 and EG.

Addition of temsirolimus to chemotherapy in children, adolescents, and young adults with intermediate-risk rhabdomyosarcoma (ARST1431): a randomised, open-label, phase 3 trial from the Children's Oncology Group.

Background: The Children's Oncology Group defines intermediate-risk rhabdomyosarcoma as unresected FOXO1 fusion-negative disease arising at an unfavourable site or non-metastatic FOXO1 fusion-positive disease. Temsirolimus in combination with chemotherapy has shown promising activity in patients with relapsed or refractory rhabdomyosarcoma. We aimed to compare event-free survival in patients with intermediate-risk rhabdomyosarcoma treated with vincristine, actinomycin, and cyclophosphamide alternating with vincristine and irinotecan (VAC/VI) combined with temsirolimus followed by maintenance therapy versus VAC/VI alone with maintenance therapy.

Management of race, ethnicity, and language data in the pediatric emergency department.

In this secondary analysis of a multicenter investigation, we describe several gaps in the collection and management of pediatric race, ethnicity, and language data. These findings highlight the ongoing need for reliable data management processes as a crucial step toward advancing pediatric health equity.

Biomarkers in asthma, potential for therapeutic intervention.

Asthma is a heterogeneous disease characterized by multiple phenotypes with varying risk factors and therapeutic responses. This Commentary describes research on biomarkers for T2-"high" and T2-"low" inflammation, a hallmark of the disease. Patients with asthma who exhibit an increase in airway T2 inflammation are classified as having T2-high asthma.

Changing patterns of routine laboratory testing over time at children's hospitals.

Background: Research into low-value routine testing at children's hospitals has not consistently evaluated changing patterns of testing over time.

Objectives: To identify changes in routine laboratory testing rates at children's hospitals over ten years and the association with patient outcomes.

Design, Settings, And Participants: We performed a multi-center, retrospective cohort study of children aged 0-18 hospitalized with common, lower-severity diagnoses at 28 children's hospitals in the Pediatric Health Information Systems database.

Medical Therapy and Monitoring in Adult Congenital Heart Disease Heart Failure.

Heart failure (HF) in adult congenital heart disease (ACHD) is an increasingly common problem facing ACHD and advanced heart disease and transplant providers. Patients are highly nuanced, and therapies are poorly studied. Standard HF medications are often used in patients who are not targets of large clinical trials.

Factors Affecting Selection of TraineE for Neurointervention (FASTEN).

Background And Importance: Neurointervention is a very competitive specialty in the United States due to the limited number of training spots and the larger pool of applicants. The training standards are continuously updated to ensure solid training experiences. Factors affecting candidate(s) selection have not been fully established yet.

Mutations of GEMIN5 are associated with coenzyme Q deficiency: long-term follow-up after treatment.

GEMIN5 exerts key biological functions regulating pre-mRNAs intron removal to generate mature mRNAs. A series of patients were reported harboring mutations in GEMIN5. No treatments are currently available for this disease.

Rapid brain MRI for image-guided ventricular catheter placement in pediatric patients: protocol and preliminary clinical outcomes.

Objective: Neuronavigation is a useful adjunct for catheter placement during neurosurgical procedures for hydrocephalus or ventricular access. MRI protocols for navigation are lengthy and require sedation for young children. CT involves ionizing radiation.

Contaminant Organism Growth in Febrile Infants at Low Risk for Invasive Bacterial Infection.

In this multicenter, cross-sectional, secondary analysis of 4042 low-risk febrile infants, nearly 10% had a contaminated culture obtained during their evaluation (4.9% of blood cultures, 5.0% of urine cultures, and 1.

Comanagement of Surgical Pediatric Patients in the Acute Care Inpatient Setting.

The care of children with primary surgical diagnoses in acute care units often involves a shared surgical and medical model ("comanagement"). There are no formal guidelines for how such programs should be structured or care provided. We used a modified Delphi process, including national experts in pediatrics and pediatric medical subspecialties, pediatric surgical specialties, and pediatric anesthesiology, to develop recommendations for best practices for comanagement programs in community and tertiary care settings.

Cholic acid increases plasma cholesterol in Smith-Lemli-Opitz syndrome: A pilot study.

Background: Smith-Lemli-Opitz syndrome (SLOS) is an inherited disorder of cholesterol biosynthesis associated with congenital malformations, growth delay, intellectual disability and behavior problems. SLOS is caused by bi-allelic mutations in , which lead to reduced activity of 7-dehydrocholesterol reductase that catalyzes the last step in cholesterol biosynthesis. Symptoms of SLOS are thought to be due to cholesterol deficiency and accumulation of its precursor 7-dehydrocholesterol (7-DHC) and 8-dehydrocholesterol (8-DHC), and toxic oxysterols.