Leveraging a global, federated, real-world data network to optimize investigator-initiated pediatric clinical trials: the TriNetX Pediatric Collaboratory Network.

Objective: Clinical research networks facilitate collaborative research, but data sharing remains a common barrier.

Materials And Methods: The TriNetX platform provides real-time access to electronic health record (EHR)-derived, anonymized data from 173 healthcare organizations (HCOs) and tools for queries and analysis. In 2022, 4 pediatric HCOs worked with TriNetX leadership to found the Pediatric Collaboratory Network (PCN), facilitated via a multi-institutional data-use agreement (DUA).

Refining the phenotype of SINO syndrome: A comprehensive cohort report of 14 novel cases.

Purpose: Spastic paraplegia, intellectual disability, nystagmus, and obesity syndrome (SINO) is a rare autosomal dominant condition caused by heterozygous variants in KIDINS220. A total of 12 individuals are reported, comprising 8 with SINO and 4 with an autosomal recessive condition attributed to biallelic KIDINS220 variants.

Methods: In our international cohort, we have included 14 individuals, carrying 13 novel pathogenic KIDINS220 variants in heterozygous form.

Guardian Reasons for Accessing Their Transgender and Gender-Diverse Adolescent's Patient Portal Account.

Purpose: To understand if and why guardians access their adolescent child's electronic health record patient portal account.

Methods: Guardians of transgender and gender-diverse adolescents completed a survey regarding patient portal use. Descriptive statistics were used to describe items related to guardian access to adolescent portal accounts.

Parents of Gender Diverse Youth: Support Sought, Received, and Still Needed.

Purpose: Gender diverse youth (GDY) have improved mental health when affirmed by parents, but little is known about the support parents of GDY seek, receive, and still need. This qualitative study explored experiences of parents of GDY to better understand their support needs.

Methods: Parents of GDY submitted videos and were interviewed about their journey supporting their GDY.

Midgut volvulus in a pediatric patient with chronic constipation, congenital intestinal malrotation and internal transmesocolic hernia.

Congenital intestinal malrotation occurs in 1 of 500 newborns and can predispose patients to intestinal volvulus and internal herniation, putting patients at risk for intestinal ischaemia. A male patient in early childhood with a history of severe constipation presented with acute abdominal pain, progressing rapidly to compensated shock. CT scan was suspicious for small bowel ischaemia and superior mesenteric artery compression.

Imaging of pediatric abdominal soft tissue tumors: A COG Diagnostic Imaging Committee/SPR Oncology Committee White Paper.

This paper provides imaging recommendations for pediatric abdominal tumors that arise outside of the solid viscera. These tumors are rare in children and have been categorized in two groups: abdominal wall and peritoneal tumors (desmoid tumor and desmoplastic small round cell tumor) and tumors that arise from the gastrointestinal tract (gastrointestinal stromal tumor and gastrointestinal neuroendocrine tumor). Authors offer consensus recommendations for imaging assessment of these tumors at diagnosis, during follow-up, and when off-therapy.

Serial Convalescent Plasma Infusions for the Initial COVID-19 Infections in the Appalachian Region of West Virginia.

Purpose: The rapid spread of SARS-CoV-2, the virus that is responsible for causing COVID-19, has presented the medical community with another example of when convalescent plasma (CP) is still used today. The ability to standardize CP at the onset of a pandemic is unlikely to exist in a reliable and uniformly reproducible way. We hypothesized that CP of unknown strength given in a serial manner will promote health and reduce mortality in those inflicted with COVID-19.

Infantile Primary Hyperoxaluria Type 1 Treated With Lumasiran in Twin Males.

Primary hyperoxaluria type 1 (PH1) is a rare genetic disease that results in oxalate overproduction leading to nephrolithiasis (NL), nephrocalcinosis (NC), kidney failure, and systemic oxalosis. Infantile PH1 is its most severe form, and it may require intensive hemodialysis followed by a liver-kidney transplant. Lumasiran is an RNA interference (RNAi) therapeutic agent that reduces hepatic oxalate production, which has been recently approved for the treatment of PH1.

Effect of Minimally Invasive Surfactant Therapy vs Sham Treatment on Death or Bronchopulmonary Dysplasia in Preterm Infants With Respiratory Distress Syndrome: The OPTIMIST-A Randomized Clinical Trial.

Importance: The benefits of surfactant administration via a thin catheter (minimally invasive surfactant therapy [MIST]) in preterm infants with respiratory distress syndrome are uncertain.

Objective: To examine the effect of selective application of MIST at a low fraction of inspired oxygen threshold on survival without bronchopulmonary dysplasia (BPD).

Design, Setting, And Participants: Randomized clinical trial including 485 preterm infants with a gestational age of 25 to 28 weeks who were supported with continuous positive airway pressure (CPAP) and required a fraction of inspired oxygen of 0.

Germline-driven replication repair-deficient high-grade gliomas exhibit unique hypomethylation patterns.

Replication repair deficiency (RRD) leading to hypermutation is an important driving mechanism of high-grade glioma (HGG) occurring predominantly in the context of germline mutations in RRD-associated genes. Although HGG presents specific patterns of DNA methylation corresponding to oncogenic mutations, this has not been well studied in replication repair-deficient tumors. We analyzed 51 HGG arising in the background of gene mutations in RRD utilizing either 450 k or 850 k methylation arrays.

Polytetrafluoroethylene conduits versus homografts for right ventricular outflow tract reconstruction in infants and young children: An institutional experience.

Objective: Our institution uses a valved polytetrafluoroethylene conduit as an alternative to homografts. The objective of this study was to investigate the performance of bicuspid valved polytetrafluoroethylene conduits used for right ventricular outflow tract reconstruction in children aged less than 2 years and to evaluate risk factors for earlier conduit explant.

Methods: We performed an Institutional Review Board-approved retrospective chart review of all patients aged less than 2 years who underwent surgical right ventricular outflow tract reconstruction with a bicuspid valved polytetrafluoroethylene conduit or homograft conduit from July 2004 to December 2014.

Measuring Harm in Hospitalized Children via a Trigger Tool.

Background: The 1999 report To Err Is Human published by the Institute of Medicine estimated that between 44,000 and 98,000 deaths occur each year in US hospitals due to medical errors. However, processes to detect medically induced harm remain inaccurate and inconsistent. Hospitalized pediatric patients are at high risk for adverse events, with published rates ranging between 1% and 11% of all hospitalizations.