Clinical variables that increase the probability of pulmonary embolism diagnosis in symptomatic children.

Background: Pulmonary embolism (PE) in children carries a significant morbidity and mortality. We examined previously described factors in 2 cohorts of children tested for PE and identified novel factors.

Methods: We combined data from 2 retrospective cohorts.

Failure to Rescue as an Outcome Metric for Pediatric and Congenital Cardiac Catheterization Laboratory Programs: Analysis of Data From the IMPACT Registry.

Background Risk-adjusted adverse event (AE) rates have been used to measure the quality of pediatric and congenital cardiac catheterization laboratories. In other settings, failure to rescue (FTR) has demonstrated utility as a quality metric. Methods and Results A multicenter retrospective cohort study was performed using data from the IMPACT (Improving Adult and Congenital Treatment) Registry between January 2010 and December 2016.

Longitudinal Evaluation of Pain, Flare-Up, and Emotional Health in Fibrodysplasia Ossificans Progressiva: Analyses of the International FOP Registry.

Fibrodysplasia ossificans progressiva (FOP) is an ultra-rare, inherited, connective tissue disease with ∼800 documented cases worldwide. The principal pathological feature of FOP is the transition of skeletal muscle, tendons, ligaments, and fascia into cartilage and bone. This heterotopic ossification (HO) is often preceded by painful soft tissue swellings or flare-ups that may last several months.

Pain affect disrupted in children with posterior cerebellar tumor resection.

Objectives: Damage to the posterior cerebellum can cause affective deficits in patients. In adults, cerebellar infarcts result in thermal hyperalgesia and affect descending modulation of pain. This study evaluated the effect of resection of low-grade cerebellar tumors on pain processing in human children.

Heterogeneity in association of remote herpesvirus infections and pediatric MS.

Objective: While prior Epstein-Barr virus (EBV) infection has been consistently associated with subsequent risk of developing multiple sclerosis (MS), the association with other common herpesviruses has been more controversial. Our objectives were to determine whether remote infection with EBV and other common herpesviruses affect the susceptibility to pediatric MS and if there are interactions between genetic and demographic factors and viral infections.

Methods: Cases with pediatric-onset MS or clinically isolated syndrome within 4 years of disease onset, and controls were recruited from 16 American pediatric MS centers.

Implementing comprehensive genetic carrier screening in China-Harnessing the power of genomic medicine for the effective prevention/management of birth defects and rare genetic diseases in China.

Carrier screening had been demonstrated as a powerful practice in preventing selected severe genetic disorders. This practice is expanding its scope and impact in the era of next-generation sequencing. Empirical and theoretical data support the utility of expanded carrier screening.

Everolimus for treatment of tuberous sclerosis complex-associated neuropsychiatric disorders.

Objective: To evaluate if short-term treatment with everolimus was safe and could improve neurocognition and behavior in children with TSC.

Methods: This was a prospective, double-blind randomized, placebo-controlled two-center phase II study. Participants diagnosed with TSC and age 6-21 years were treated with 4.

High-angular resolution diffusion imaging tractography of cerebellar pathways from newborns to young adults.

Introduction: Many neurologic and psychiatric disorders are thought to be due to, or result in, developmental errors in neuronal cerebellar connectivity. In this connectivity analysis, we studied the developmental time-course of cerebellar peduncle pathways in pediatric and young adult subjects.

Methods: A cohort of 80 subjects, newborns to young adults, was studied on a 3T MR system with 30 diffusion-weighted measurements with high-angular resolution diffusion imaging (HARDI) tractography.

White and gray matter fiber pathways in autism spectrum disorder revealed by ex vivo diffusion MR tractography.

Introduction: The goal of this project was to study the white and gray matter brain pathways of young children with autism spectrum disorder (ASD) and investigate how ASD brains differ from those of typically developing children of the same age.

Methods: High angular resolution resolution diffusion imaging tractography and diffusion tensor imaging tractography were used to analyze the brains of two 3-year-old children with ASD and two age-matched controls.

Results: In the ASD brains, the callosal and corticopontine pathways were thinner overall and terminal areas in the cortical gray matter were significantly smaller.

Modulation of corticospinal excitability by transcranial magnetic stimulation in children and adolescents with autism spectrum disorder.

The developmental pathophysiology of autism spectrum disorders (ASD) is currently not fully understood. However, multiple lines of evidence suggest that the behavioral phenotype may result from dysfunctional inhibitory control over excitatory synaptic plasticity. Consistent with this claim, previous studies indicate that adults with Asperger's Syndrome show an abnormally extended modulation of corticospinal excitability following a train of repetitive transcranial magnetic stimulation (rTMS).

The relationship between cam lesion and physis in skeletally immature patients.

Background: Although it has been postulated that injury to the proximal femoral physis results in the formation of a cam lesion, a clear causal association has not been established.

Purpose: The purpose of this study was to investigate the relationship between the physis and the cam lesion. Our hypotheses were that (1) the location of the cam lesion would coincide with the growth plate and (2) the distance between the cam lesion and the physis would vary as a function of skeletal maturity.

Comparison of laparoscopic-assisted and open total proctocolectomy and ileal pouch anal anastomosis in children and adolescents.

Background: Laparoscopic techniques have been applied to restorative proctocolectomy since the early 2000's. We have employed a technique for laparoscopic-assisted total proctocolectomy (TPC) and ileal pouch anal anastomosis (IPAA) for the treatment of children with ulcerative colitis (UC).

Methods: We retrospectively reviewed 68 laparoscopic-assisted TPCs and 39 open TPCs performed at our institution for UC between January 1997 and February 2011.