Variability for Age at Successful Extubation in Infants with Congenital Diaphragmatic Hernia.

Objective: The objective of this study was to characterize clinical factors associated with successful extubation in infants with congenital diaphragmatic hernia.

Study Design: Using the Children's Hospitals Neonatal Database, we identified infants with congenital diaphragmatic hernia from 2017 to 2020 at 32 centers. The main outcome was age in days at the time of successful extubation, defined as the patient remaining extubated for 7 consecutive days.

Racial and Ethnic Differences in Pediatric Readmissions for Common Chronic Conditions.

Objective: To compare the timing and magnitude of variation of pediatric readmission rates across race/ethnicity for selected chronic conditions: asthma, diabetes, seizures, migraines, and depression.

Study Design: Retrospective analysis of hospitalizations at 48 children's hospitals in the 2013 Pediatric Health Information System database for children (ages 0-18 years) admitted for asthma (n = 36 910), seizure (n = 35 361), diabetes (n = 12 468), migraine (n = 5882), and depression (n = 5132). Generalized linear models with a random effect for hospital were used to compare the likelihood of readmission by patients' race/ethnicity, adjusting for severity of illness, age, payer, and medical complexity.

Long length of hospital stay in children with medical complexity.

Background: Hospitalizations of children with medical complexity (CMC) account for one-half of hospital days in children, with lengths of stays (LOS) that are typically longer than those for children without medical complexity. The objective was to assess the impact of, risk factors for, and variation across children's hospitals regarding long LOS (≥10 days) hospitalizations in CMC.

Methods: A retrospective study of 954,018 CMC hospitalizations, excluding admissions for neonatal and cancer care, during 2013 to 2014 in 44 children's hospitals.

Implicit Attitudes and Smoking Behavior in a Smoking Cessation Induction Trial.

Introduction: Although studies have suggested that implicit attitudes may predict smoking-related decisions, evidence that changes in implicit attitudes toward smoking are related to changes in smoking behavior is lacking. Using data from a trial comparing interventions to induce quit attempts among unmotivated smokers, this study examined whether changes in implicit attitudes were associated with quit attempts and cessation after controlling for explicit motivation.

Methods: Daily smokers recruited from the community completed measures of implicit attitudes (Implicit Association Test) and explicit measure of motivation to smoke at baseline, mid-intervention (week 12 [W12]) and follow-up (week 26 [W26]).

Recruiting unmotivated smokers into a smoking induction trial.

Little is known about effective methods to recruit unmotivated smokers into cessation induction trials, the reasons unmotivated smokers agree to participate, and the impact of those reasons on study outcomes. A mixed-method approach was used to examine recruitment data from a randomized controlled cessation induction trial that enrolled 255 adult smokers with low motivation to quit. Over 15 months, 33% of smokers who inquired about the study were enrolled.

Costs of Antimicrobial Stewardship Programs at US Children's Hospitals.

The costs of antimicrobial stewardship programs (ASPs) in children's hospitals have not been described previously. We assessed ASP costs using an online survey administered to ASP leaders at U.S.

Comparative Effectiveness of Dexamethasone versus Prednisone in Children Hospitalized with Asthma.

Objectives: To study the comparative effectiveness of dexamethasone vs prednisone/prednisolone in children hospitalized with asthma exacerbation not requiring intensive care.

Study Design: This multicenter retrospective cohort study, using the Pediatric Health Information System, included children aged 4-17 years who were hospitalized with a principal diagnosis of asthma between January 1, 2007 and December 31, 2012. Children with chronic complex condition and/or initial intensive care unit (ICU) management were excluded.

Association of National Guidelines With Tonsillectomy Perioperative Care and Outcomes.

Objective: To investigate the association of the 2011 American Academy of Otolaryngology Head and Neck Surgery guidelines with perioperative care processes and outcomes in children undergoing tonsillectomy.

Methods: We conducted a retrospective cohort study of otherwise healthy children undergoing tonsillectomy between January 2009 and January 2013 at 29 US children's hospitals participating in the Pediatric Health Information System. We measured evidence-based processes suggested by the guidelines (perioperative dexamethasone and no antibiotic use) and outcomes (30-day tonsillectomy complication-related revisits).

MicroRNA-421 Dysregulation is Associated with Tetralogy of Fallot.

The importance of microRNAs for maintaining stability in the developing vertebrate heart has recently become apparent. In addition, there is a growing appreciation for the significance of microRNAs in developmental pathology, including the formation of congenital heart defects. We examined the expression of microRNAs in right ventricular (RV) myocardium from infants with idiopathic tetralogy of Fallot (TOF, without a 22q11.

Establishing benchmarks for the hospitalized care of children with asthma, bronchiolitis, and pneumonia.

Background And Objectives: Asthma, pneumonia, and bronchiolitis are the leading causes of admission for pediatric patients; however, the lack of accepted benchmarks is a barrier to quality improvement efforts. Using data from children hospitalized with asthma, bronchiolitis, or pneumonia, the goals of this study were to: (1) measure the 2012 performance of freestanding children's hospitals using clinical quality indicators; and (2) construct achievable benchmarks of care (ABCs) for the clinical quality indicators.

Methods: This study was a cross-sectional trial using the Pediatric Health Information System database.

Ultra high-resolution gene centric genomic structural analysis of a non-syndromic congenital heart defect, Tetralogy of Fallot.

Tetralogy of Fallot (TOF) is one of the most common severe congenital heart malformations. Great progress has been made in identifying key genes that regulate heart development, yet approximately 70% of TOF cases are sporadic and nonsyndromic with no known genetic cause. We created an ultra high-resolution gene centric comparative genomic hybridization (gcCGH) microarray based on 591 genes with a validated association with cardiovascular development or function.

Incidence, classification, and risk stratification for Candida central line-associated bloodstream infections in pediatric patients at a tertiary care children's hospital, 2000-2010.

Objective: To identify risk factors for pediatric Candida central line-associated bloodstream infections (CLABSIs).

Design: Retrospective case-control study.

Setting: Freestanding tertiary care children's hospital.

Epigenetic regulation of ADME-related genes: focus on drug metabolism and transport.

Epigenetic regulation of gene expression refers to heritable factors that are functionally relevant genomic modifications but that do not involve changes in DNA sequence. Examples of such modifications include DNA methylation, histone modifications, noncoding RNAs, and chromatin architecture. Epigenetic modifications are crucial for packaging and interpreting the genome, and they have fundamental functions in regulating gene expression and activity under the influence of physiologic and environmental factors.

A Novel Stratification Method in Linkage Studies to Address Inter- and Intra-Family Heterogeneity in Autism.

Most genome linkage scans for autism spectrum disorders (ASDs) have failed to be replicated. Recently, a new ASD phenotypic sub-classification method was developed which employed cluster analyses of severity scores from the Autism Diagnostic Interview-Revised (ADI-R). Here, we performed linkage analysis for each of the four identified ADI-R stratified subgroups.

15q11.2 proximal imbalances associated with a diverse array of neuropsychiatric disorders and mild dysmorphic features.

Deletion within the proximal region of chromosome 15q11.2 between breakpoints 1 and 2 (BP1-BP2) has been proposed to be a risk factor for intellectual disability, seizure, and schizophrenia. However, the clinical significance of its reciprocal duplication is not clearly defined yet.

Cardiac defects are infrequent findings in individuals with 8p23.1 genomic duplications containing GATA4.

Background: The GATA4 gene is critical to regulating myocardial differentiation and function. Haploinsufficiency of GATA4 is strongly associated with congenital heart defects (CHD). However, it is inconclusive whether duplicated GATA4 causes CHD.

Identification of copy number variants on human chromosome 22 in patients with a variety of clinical findings.

The aims of this study were to create a copy number variant (CNV) profile of human chromosome 22 and to establish a genotype-phenotype correlation for patients with genomic abnormalities on chromosome 22. Thus, 1,654 consecutive pediatric patients with a diversity of clinical findings were evaluated by high-resolution chromosomal microarray analysis (CMA). We identified 25 individuals with abnormal CNVs on chromosome 22, representing 1.

16p13.11 duplication is a risk factor for a wide spectrum of neuropsychiatric disorders.

The chromosome 16p13.11 heterozygous deletion is associated with a diverse array of neuropsychiatric disorders including intellectual disabilities, autism, schizophrenia, epilepsy and attention-deficit hyperactivity disorder. However the clinical significance of its reciprocal duplication is not clearly defined yet.

1.39 Mb inherited interstitial deletion in 12p13.33 associated with developmental delay.

We identified a novel 1.39 Mb interstitial deletion of chromosome 12p13.33 in an 8 year-old Caucasian female propositus and her affected father and brother using microarray-based comparative genomic hybridization (aCGH).

Telomere capture as a frequent mechanism for stabilization of the terminal chromosomal deletion associated with inverted duplication.

We report 4 interstitial inverted duplications with associated terminal deletions (inv dup del) involving the short arms of chromosomes 5 and 8, and the long arm of chromosome 13 by microarray-based comparative genomic hybridization (aCGH) combined with chromosome banding (GTG banding) and fluorescence in situ hybridization (FISH) analyses. Formation of the intermediate dicentric chromosomes in 3 of them occurred through breakage-fusion-bridge cycle mechanism (U-type exchange mechanism) and in the fourth one it occurred through the mediation of the inverted low-copy repeats on chromosome 8p23.1.

Genomic profile of copy number variants on the short arm of human chromosome 8.

We evaluated 966 consecutive pediatric patients with various developmental disorders by high-resolution microarray-based comparative genomic hybridization and found 10 individuals with pathogenic copy number variants (CNVs) on the short arm of chromosome 8 (8p), representing approximately 1% of the patients analyzed. Two patients with 8p terminal deletion associated with interstitial inverted duplication (inv dup del(8p)) had different mechanisms leading to the formation of a dicentric intermediate during meiosis. Three probands carried an identical ∼5.

Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease.

Neonatal deaths account for about 67% of all deaths during the first year of life in the USA. Genetic defects are important factors contributing to neonatal deaths and congenital anomalies. Here we report on the identification of a 1.

Validation of the Agilent 244K oligonucleotide array-based comparative genomic hybridization platform for clinical cytogenetic diagnosis.

High-resolution microarray comparative genomic hybridization (aCGH) is being adopted for diagnostic evaluation of genomic disorders, but validation for clinical diagnosis has not yet been reported. We present validation data for the Agilent Human Genome Microarray Kit 244K for clinical application. The platform contains approximately 240,000 distinct 60-mer oligonucleotide probes spanning the entire human genome.

Feasibility and relevance of examining lymphoblastoid cell lines to study role of microRNAs in autism.

To assess the feasibility and relevance of using lymphoblastoid cell lines to study the role of noncoding RNAs in the etiology of autism, we evaluated global expression profiling of 470 mature human microRNAs from six subjects with autism compared with six matched controls. Differential expression (either higher or lower) for 9 of the 470 microRNAs was observed in our autism samples compared with controls. Potential target genes for these microRNAs were identified using computer tools, which included several autism susceptibility genes.