Pediatric Basilar Skull Fracture Mechanisms and Trends From 2007 to 2018.

Objectives: To evaluate the specific mechanism and trend of injury resulting in pediatric basilar skull fractures.

Study Design: Retrospective chart review of a trauma database.

Setting: Tertiary care children's hospital.

Sleep disordered breathing in children with trisomy 13 and trisomy 18.

Purpose: While the prevalence of obstructive sleep apnea (OSA) is well documented in trisomy 21, there has been little published about the incidence in trisomy 13 (T13) and trisomy 18 (T18). Trisomies 13, 18, and 21 have overlapping clinical features that make patients prone to OSA. Because the literature regarding OSA in T13 and T18 children is limited, we performed a retrospective chart review to investigate the characteristics of these patients.

Improving Quantitative Power in Digital PCR through Digital High-Resolution Melting.

Applying digital PCR (dPCR) technology to challenging clinical and industrial detection tasks has become more prevalent because of its capability for absolute quantification and rare target detection. However, practices learned from quantitative PCR (qPCR) that promote assay robustness and wide-ranging utility are not readily applied in dPCR. These include internal amplification controls to account for false-negative reactions and amplicon high-resolution melt (HRM) analysis to distinguish true positives from false positives.

DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes.

Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by pathogenic variants in the histone methyltransferase EZH2, which encodes a core component of the Polycomb repressive complex-2 (PRC2). Using genome-wide DNA methylation (DNAm) data for 187 individuals with OGID and 969 control subjects, we show that pathogenic variants in EZH2 generate a highly specific and sensitive DNAm signature reflecting the phenotype of WS. This signature can be used to distinguish loss-of-function from gain-of-function missense variants and to detect somatic mosaicism.

Of Major Complication Types, Only Deep Infections After Spinal Fusion Are Associated With Worse Health-related Outcomes in Children With Cerebral Palsy.

Study Design: Retrospective review.

Objective: The aim of this study was to determine whether major postoperative complications ("complications") are associated with 2-year improvements in Caregiver Priorities and Child Health Index of Life with Disabilities (CPCHILD) scores after scoliosis surgery, and whether complications and preoperative characteristics predict 2-year improvements in CPCHILD Total score.

Summary Of Background Data: Spinal arthrodesis can halt the progression of spinal deformity in patients with cerebral palsy (CP)-related scoliosis.

Tabletop Application of SALT Triage to 10, 100, and 1000 Pediatric Victims.

Introduction: The Sort, Access, Life-saving interventions, Treatment and/or Triage (SALT) mass-casualty incident (MCI) algorithm is unique in that it includes two subjective questions during the triage process: "Is the victim likely to survive given the resources?" and "Is the injury minor?"

Hypothesis/problem: Given this subjectivity, it was hypothesized that as casualties increase, the inter-rater reliability (IRR) of the tool would decline, due to an increase in the number of patients triaged as Minor and Expectant.

Methods: A pre-collected dataset of pediatric trauma patients age <14 years from a single Level 1 trauma center was used to generate "patients." Three trained raters triaged each patient using SALT as if they were in each of the following scenarios: 10, 100, and 1,000 victim MCIs.

Do seizures compromise correction maintenance after spinal fusion in cerebral palsy scoliosis?

Seizure disorder in cerebral palsy (CP) has been described as a risk factor for postoperative complications after posterior spinal fusion. However, the effect of seizures on the maintenance of curve correction has not been reported. The aim of this study is to investigate associations between seizure history and maintenance of curve correction after posterior spinal fusion in children with CP.

Diagnosis and treatment of a boy with IPEX syndrome presenting with diabetes in early infancy.

IPEX syndrome (Immune dysregulation, Polyendocrinopathy, X-linked) should be tested for in males under 6 months old presenting with diabetes, even without other IPEX features. Early diagnosis and bone marrow transplantation can improve outcomes.

A Comparison of Intracranial Volume Growth in Normal Children and Patients With Metopic Craniosynostosis.

Background: The impact of metopic craniosynostosis on intracranial volume (ICV) and ICV growth is unclear. In addition, the relationship between head circumference (HC) and ICV in these patients is not previously described.

Methods: A retrospective review of 72 patients with metopic craniosynostosis was performed.

The Role of Cross-Links in Posterior Spinal Fusion for Cerebral Palsy-Related Scoliosis.

Study Design: Retrospective review of a multicenter, prospective database.

Objective: Our aim was to compare complication rates and maintenance of radiographic correction at 2 years after posterior spinal fusion (PSF) with or without cross-links in patients with cerebral palsy (CP)-related scoliosis.

Summary Of Background Data: Cross-links are frequently used in PSF to correct scoliosis in patients with CP because they are thought to increase the stiffness and torsional rigidity of the construct.

Polysomnography Parameters Assessing Gas Exchange Best Predict Postoperative Respiratory Complications Following Adenotonsillectomy in Children With Severe OSA.

Study Objectives: Adenotonsillectomy (AT) is the treatment of choice for obstructive sleep apnea (OSA) in children with adenotonsillar hypertrophy. Severe OSA, identified by the apnea-hypopnea index (AHI), is a risk factor for surgical complications and AHI thresholds are used by surgeons to decide elective postoperative hospital admissions. The objective of this study was to identify the prevalence of surgical complications of AT in children with severe OSA and determine their association with specific parameters of polysomnography (PSG).

A Novel Algorithm for Improving the Diagnostic Accuracy of Prehospital ST-Elevation Myocardial Infarction.

Introduction: ST-segment elevation myocardial infarction (STEMI) is a time-sensitive entity that has been shown to benefit from prehospital diagnosis by electrocardiogram (ECG). Current computer algorithms with binary decision making are not accurate enough to be relied on for cardiac catheterization lab (CCL) activation.

Hypothesis: An algorithmic approach is proposed to stratify binary STEMI computerized ECG interpretations into low, intermediate, and high STEMI probability tiers.

Through Thick and Thin: The In Vitro Effects of Thickeners on Infant Feed Viscosity.

Background: Gastroesophageal reflux disease (GERD) is a common problem in neonates, and current modalities for thickening human milk produce inconsistent outcomes. The objective of this in vitro study is to measure the viscosity effect of different thickening strategies.

Methods: We thickened donor human milk (DHM) and formula using various thickeners: starch-based thickeners (SBT; Thick It, rice cereal), and gum-based thickeners (GBT; xanthan gum: Simply Thick, Thicken Up Clear; carob gum: GelMix).

Integrating multiomics longitudinal data to reconstruct networks underlying lung development.

A comprehensive understanding of the dynamic regulatory networks that govern postnatal alveolar lung development is still lacking. To construct such a model, we profiled mRNA, microRNA, DNA methylation, and proteomics of developing murine alveoli isolated by laser capture microdissection at 14 predetermined time points. We developed a detailed comprehensive and interactive model that provides information about the major expression trajectories, the regulators of specific key events, and the impact of epigenetic changes.

Mutations in topoisomerase IIβ result in a B cell immunodeficiency.

B cell development is a highly regulated process involving multiple differentiation steps, yet many details regarding this pathway remain unknown. Sequencing of patients with B cell-restricted immunodeficiency reveals autosomal dominant mutations in TOP2B. TOP2B encodes a type II topoisomerase, an essential gene required to alleviate topological stress during DNA replication and gene transcription, with no previously known role in B cell development.

Improving Health-related Quality of Life for Patients With Nonambulatory Cerebral Palsy: Who Stands to Gain From Scoliosis Surgery?

Introduction: It is unclear what factors influence health-related quality of life (HRQOL) in neuromuscular scoliosis. The aim of this study was to evaluate which factors are associated with an improvement in an HRQOL after spinal fusion surgery for nonambulatory patients with cerebral palsy (CP).

Methods: A total of 157 patients with nonambulatory CP (Gross Motor Function Classification System IV and V) with a minimum of 2-year follow-up after PSF were identified from a prospective multicenter registry.

Implementation of a clinical guideline to decrease laboratory tests in newborns evaluated for early onset sepsis.

Background: Creation of a clinical guideline to reduce the number of complete blood counts (CBCs) obtained on healthy term infants for early onset sepsis (EOS) evaluation secondary to maternal chorioamnionitis.

Methods: A clinical guideline was introduced at four neonatal intensive care units (NICU) to reduce laboratory tests during EOS evaluation. Measures include frequency and timing of CBCs, culture negative sepsis, length of stay, and readmission rate.

Intraparenchymal extravasation of gadolinium mimicking an enhancing brain tumor.

Gadolinium (Gd)-enhanced magnetic resonance imaging plays an essential role in the detection, characterization, and staging of intracranial neoplasms and vascular abnormalities. Although Gd is helpful in a majority of situations, it can lead to diagnostic misinterpretation in the setting of active vascular extravasation. Scarce reports of intracranial extravasation of Gd are present in the literature.

CAPS and NLRP3.

Cryopyrin-associated periodic syndrome (CAPS) is a rare inherited autoinflammatory disorder characterized by systemic, cutaneous, musculoskeletal, and central nervous system inflammation. Gain-of-function mutations in NLRP3 in CAPS patients lead to activation of the cryopyrin inflammasome, resulting in the inappropriate release of inflammatory cytokines including IL-1β and CAPS-related inflammatory symptoms. Several mechanisms have been identified that are important for the normal regulation of the cryopyrin inflammasome in order to prevent uncontrolled inflammation.

Haemodynamic effects of premedication for neonatal intubation: an observational study.

Objective: To examine changes in blood pressure (BP), cardiac output (CO) and cerebral regional oxygen saturation (rScO2) with administration of premedication for neonatal intubation.

Design: Pilot, prospective, observational study. Oxygen saturation, heart rate, CO, rScO2 and BP data were collected.

Neonatal Intubation Practice and Outcomes: An International Registry Study.

Background And Objectives: Neonatal tracheal intubation is a critical but potentially dangerous procedure. We sought to characterize intubation practice and outcomes in the NICU and delivery room (DR) settings and to identify potentially modifiable factors to improve neonatal intubation safety.

Methods: We developed the National Emergency Airway Registry for Neonates and collected standardized data for patients, providers, practices, and outcomes of neonatal intubation.