Multisite Randomized Clinical Trial Evaluating an Online Self-Management Program for Adolescents With Juvenile Idiopathic Arthritis.

Objective: To determine the efficacy in improving pain and health-related quality of life (HRQOL) of an online self-management program for adolescents with juvenile idiopathic arthritis (JIA).

Methods: Youth ages 12-18 years with JIA were recruited from 10 rheumatology clinics across the United States and randomized to complete an online self-management program (n = 144) or an online disease education program (n = 145). Participants in the self-management group worked through multimedia-based modules comprising psychoeducation, training in cognitive-behavioral coping skills and stress management, and other self-management topics over a 12-week period.

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Purpose: Defects in the cohesin pathway are associated with cohesinopathies, notably Cornelia de Lange syndrome (CdLS). We aimed to delineate pathogenic variants in known and candidate cohesinopathy genes from a clinical exome perspective.

Methods: We retrospectively studied patients referred for clinical exome sequencing (CES, N = 10,698).

A Review of Modifiable Risk Factors for Severe Obesity in Children Ages 5 and Under.

Early-onset severe obesity in childhood presents a significant clinical challenge signaling an urgent need for effective and sustainable interventions. A large body of literature examines overweight and obesity, but little focuses specifically on the risk factors for severe obesity in children ages 5 and younger. This narrative review identified modifiable risk factors associated with severe obesity in children ages 5 and younger: nutrition (consuming sugar sweetened beverages and fast food), activity (low frequency of outdoor play and excessive screen time), behaviors (lower satiety responsiveness, sleeping with a bottle, lack of bedtime rules, and short sleep duration), and socio-environmental risk factors (informal child care setting, history of obesity in the mother, and gestational diabetes).

Parental coping and its role in predicting health-related quality of life in pediatric epilepsy.

Objective: Psychosocial difficulties are known to greatly impact the health-related quality of life (HRQOL) of a child with epilepsy, and parental coping is a unique aspect that has not been examined in relation to HRQOL in the pediatric population with epilepsy. This study assessed the relationship of parental coping with HRQOL and other clinical and sociodemographic factors.

Methods: Data included parental ratings on the Illness Cognition Questionnaire-Parent (ICQ-P) and the Quality of Life in Childhood Epilepsy (QOLCE) questionnaire for 108 children and adolescents with epilepsy (mean 11.

Nonleaking cystoid macular edema in Cohen syndrome.

An 11-year-old girl with a history of neutropenia, developmental delay, hypotonia, and intellectual disability was diagnosed with Cohen syndrome after genetic testing discovered homozygous mutation in the VPS13B gene. She was referred to a retinal specialist with a chief complaint of decreased peripheral vision. On examination, decreased visual acuity, pigmentary changes, and nonleaking cystoid macular edema were present in both eyes.

Improved Diagnosis and Treatment of Bone and Joint Infections Using an Evidence-based Treatment Guideline.

Background: Our institution created a multidisciplinary guideline for treatment of acute hematogenous osteomyelitis (AHO) and septic arthritis (SA) in response to updates in evidence-based literature in the field and existing provider variability in treatment. This guideline aims to improve the care of these patients by standardizing diagnosis and treatment and incorporating up to date evidence-based research into practice. The primary objective of this study is to compare cases before versus after the implementation of the guideline to determine concrete effects the guideline has had in the care of patients with AHO and SA.

Comparing the importance of quality measurement themes in juvenile idiopathic inflammatory myositis between patients and families and healthcare professionals.

Background: A standardized set of quality measures for juvenile idiopathic inflammatory myopathies (JIIM) is not in use. Discordance has been shown between the importance ascribed to quality measures between patients and families and physicians. The objective of this study was to assess and compare the importance of various aspects of high quality care to patients with JIIM and their families with healthcare providers, to aid in future development of comprehensive quality measures.

Food Protein-Induced Enterocolitis Syndrome (FPIES): Review of Recent Guidelines.

Purpose Of Review: To increase understanding of food protein-induced enterocolitis syndrome (FPIES), a non-immunoglobulin E (IgE)-mediated reaction to food, by reviewing a growing body of literature, including recently published international consensus guidelines.

Recent Findings: FPIES primarily affects infants and young children and is characterized by the delayed onset of gastrointestinal symptoms, predominantly repetitive vomiting, in response to a trigger food. Symptoms are often severe and can lead to shock.

Racial and Ethnic Disparities and Bias in the Evaluation and Reporting of Abusive Head Trauma.

Objective: To characterize racial and ethnic disparities in the evaluation and reporting of suspected abusive head trauma (AHT) across the 18 participating sites of the Pediatric Brain Injury Research Network (PediBIRN). We hypothesized that such disparities would be confirmed at multiple sites and occur more frequently in patients with a lower risk for AHT.

Study Design: Aggregate and site-specific analysis of the cross-sectional PediBIRN dataset, comparing AHT evaluation and reporting frequencies in subpopulations of white/non-Hispanic and minority race/ethnicity patients with lower vs higher risk for AHT.

Executive Dysfunction and Depression in Pediatric Temporal Lobe Epilepsy: The Contribution of Hippocampal Sclerosis and Psychosocial Factors.

Objectives: Temporal lobe epilepsy (TLE) has been identified as a risk factor for increased depression features in children and adolescents; however, less is known regarding specific neurocognitive predictors of depression in this population above and beyond seizure-specific and sociodemographic factors.

Methods: The study included 62 patients with TLE (64% male) aged 8 to 16 years (M=12.62; SD=2.

A Web-based Decision Tool to Estimate Subarachnoid Hemorrhage Risk in Emergency Department Patients.

Subarachnoid hemorrhage (SAH) from a leaking aneurysm is a neurological emergency. SAH patients often present with headache-a common chief complaint among emergency department patients. If unrecognized, 70% of the patients with re-bleeds die and one third are left with neurological deficits.

Transition of Care from the Emergency Department to the Outpatient Setting: A Mixed-Methods Analysis.

Introduction: The goal of this study was to characterize current practices in the transition of care between the emergency department and primary care setting, with an emphasis on the use of the electronic medical record (EMR).

Methods: Using literature review and modified Delphi technique, we created and tested a pilot survey to evaluate for face and content validity. The final survey was then administered face-to-face at eight different clinical sites across the country.

A Combined Open and Endovascular Approach for the Treatment of a Torcular Dural Arteriovenous Fistula.

Cranial dural arteriovenous fistulae (dAVFs) are complex vascular lesions, rarely encountered within the pediatric population. Endovascular embolization has revolutionized the management of these lesions and should be regarded as the first-line treatment for the majority of dAVFs; however, in a subset of particularly complicated lesions, traditional routes of access either do not exist or have been eliminated in the course of prior embolization attempts. We describe the case of an 11-year-old boy with a complicated torcular dAVF refractory to multiple attempts at standard endovascular treatment.

Site Variability in Regulatory Oversight for an International Study of Pediatric Sepsis.

Objectives: Duplicative institutional review board/research ethics committee review for multicenter studies may impose administrative burdens and inefficiencies affecting study implementation and quality. Understanding variability in site-specific institutional review board/research ethics committee assessment and barriers to using a single review committee (an increasingly proposed solution) can inform a more efficient process. We provide needed data about the regulatory oversight process for the Sepsis PRevalence, OUtcomes, and Therapies multicenter point prevalence study.

Genotype-Phenotype Correlation in NF1: Evidence for a More Severe Phenotype Associated with Missense Mutations Affecting NF1 Codons 844-848.

Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.

DYNAMIC RETINA VESSEL COLOR CHANGE DURING OCULAR COMPRESSION IN SEVERE LIPEMIA RETINALIS.

Purpose: The aim of this study was to describe dynamic color change in retinal vessels from white to coral pink due to externally applied ocular pressure in a 6-week-old infant with lipemia retinalis secondary to type 1b familial hyperlipoproteinemia.

Methods: Fundus images and fluorescein angiogram were taken with RetCam3 camera. Color photographs of pooled blood were taken during phlebotomy.

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual Disability without Frontonasal or Limb Malformations.

A recurrent de novo missense variant within the C-terminal Sin3-like domain of ZSWIM6 was previously reported to cause acromelic frontonasal dysostosis (AFND), an autosomal-dominant severe frontonasal and limb malformation syndrome, associated with neurocognitive and motor delay, via a proposed gain-of-function effect. We present detailed phenotypic information on seven unrelated individuals with a recurrent de novo nonsense variant (c.2737C>T [p.

Stigma Experienced by Children and Adolescents With Obesity.

The stigmatization of people with obesity is widespread and causes harm. Weight stigma is often propagated and tolerated in society because of beliefs that stigma and shame will motivate people to lose weight. However, rather than motivating positive change, this stigma contributes to behaviors such as binge eating, social isolation, avoidance of health care services, decreased physical activity, and increased weight gain, which worsen obesity and create additional barriers to healthy behavior change.

Rapid Infliximab Infusion in Children with Inflammatory Bowel Disease: A Multicenter North American Experience.

Background: Infliximab (IFX) infusion may lead to development of anti-IFX antibodies, and subsequent infusion reactions (IRs). The safety of rapid IFX infusion administered over 60 minutes has been under-investigated in children with inflammatory bowel disease. In a multicenter study, the frequency and nature of rapid infusion-associated IRs were examined.

The influence of endophenotypic, disease-specific, and environmental variables on the expression of anxiety in pediatric epilepsy.

Children and adolescents with epilepsy often show higher rates of anxiety, which carries an increased risk for reduced health-related quality of life (HRQOL). The current study assessed the role of parental psychiatric history (i.e.

Comparison of a rapid albuterol pathway with a standard pathway for the treatment of children with a moderate to severe asthma exacerbation in the emergency department.

Objective: The objective of this study was to determine if a rapid albuterol delivery pathway with a breath-enhanced nebulizer can reduce emergency department (ED) length of stay (LOS), while maintaining admission rates and side effects, when compared to a traditional asthma pathway with a standard jet nebulizer.

Methods: Children aged 3-18 presenting to a large urban pediatric ED for asthma were enrolled if they were determined by pediatric asthma score to have a moderate to severe exacerbation. Subjects were randomized to either a standard treatment arm where they received up to 2 continuous albuterol nebulizations, or a rapid albuterol arm where they received up to 4 rapid albuterol treatments with a breath-enhanced nebulizer, depending on severity scoring.

Testing for Urinary Tract Infection in the Influenza/Respiratory Syncytial Virus-Positive Febrile Infant Aged 2 to 12 Months.

Objective: Infants 12 months or younger with influenza and respiratory syncytial virus (RSV) commonly present to the emergency department (ED) with fever. Previous publications have recommended that these patients have a urinalysis and urine culture performed. We aimed to assess the prevalence of urinary tract infection (UTI) in febrile RSV/influenza positive infants aged 2 to 12 months presenting to the ED.