Non-operative management of extralobar pulmonary sequestration: a safe alternative to resection?

Purpose: This retrospective cohort study compares the natural history of patients with extralobar sequestrations (ELS) who do not undergo intervention with those who undergo resection to assess the safety of non-operative management.

Methods: 126 patients with pulmonary sequestrations or congenital pulmonary airway malformations born between 1999 and 2016 were identified. 49 patients had ELS on postnatal imaging, but two were excluded for associated congenital diaphragmatic hernia.

Longitudinal Analysis of Pulmonary Function in Survivors of Congenital Diaphragmatic Hernia.

Objective: To analyze longitudinal trends of pulmonary function testing in patients with congenital diaphragmatic hernia (CDH) followed in our multidisciplinary clinic.

Study Design: This was a retrospective cohort study of CDH patients born between 1991 and 2013. A linear mixed effects model was fitted to estimate the trends of percent predicted forced expiratory volume in 1 second (FEVpp), percent predicted forced vital capacity (FVCpp), and FEV/FVC over time.

Longitudinal Analysis of Ventilation Perfusion Mismatch in Congenital Diaphragmatic Hernia Survivors.

Objective: To determine the natural history of pulmonary function for survivors of congenital diaphragmatic hernia (CDH).

Study Design: This was a retrospective cohort study of survivors of CDH born during 1991-2016 and followed at our institution. A generalized linear model was fitted to assess the longitudinal trends of ventilation (V), perfusion (Q), and V/Q mismatch.

Surgical Repair of Congenital Diaphragmatic Hernia After Extracorporeal Membrane Oxygenation Cannulation: Early Repair Improves Survival.

Objective: To determine the optimal timing of congenital diaphragmatic hernia (CDH) repair after extracorporeal membrane oxygenation (ECMO) cannulation.

Summary Background Data: The timing of CDH repair after ECMO cannulation remains a controversial topic due to studies with low power or strong selection bias.

Methods: This is a 2-aim retrospective cohort study based on the CDH Study Group registry for the period of 2007-2017.

De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders.

Congenital diaphragmatic hernia (CDH) is a severe birth defect that is often accompanied by other congenital anomalies. Previous exome sequencing studies for CDH have supported a role of de novo damaging variants but did not identify any recurrently mutated genes. To investigate further the genetics of CDH, we analyzed de novo coding variants in 362 proband-parent trios including 271 new trios reported in this study.

Development of a patient-centered video series to improve education before kidney transplantation.

Background: Inadequate patient knowledge about transplantation can result in low patient satisfaction and contribute to poor clinical outcomes. The purpose of this patient-oriented research project was to develop an educational intervention for patients awaiting kidney transplantation.

Methods: An educational intervention was developed by patients and health care providers, experts in medication adherence, video education, motivational psychology, and cultural education.

Systematic analysis of copy number variation associated with congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH), characterized by malformation of the diaphragm and hypoplasia of the lungs, is one of the most common and severe birth defects, and is associated with high morbidity and mortality rates. There is growing evidence demonstrating that genetic factors contribute to CDH, although the pathogenesis remains largely elusive. Single-nucleotide polymorphisms have been studied in recent whole-exome sequencing efforts, but larger copy number variants (CNVs) have not yet been studied on a large scale in a case control study.

Education Before Kidney Transplantation.

Context: Poor knowledge about immunosuppressive (IS) medications remains a major problem for patients in the posttransplant setting. Therefore, more effective educational strategies in the pretransplant setting are being considered as a possible method to improve knowledge and readiness for the challenges of posttransplant care. However, the most effective/relevant content of a pretransplant educational program is yet to be determined.

Genome-wide enrichment of damaging de novo variants in patients with isolated and complex congenital diaphragmatic hernia.

Congenital Diaphragmatic Hernia (CDH) is a common and often lethal birth defect characterized by diaphragmatic structural defects and pulmonary hypoplasia. CDH is isolated in 60% of newborns, but may also be part of a complex phenotype with additional anomalies. We performed whole exome sequencing (WES) on 87 individuals with isolated or complex CDH and on their unaffected parents, to assess the contribution of de novo mutations in the etiology of diaphragmatic and pulmonary defects and to identify new candidate genes.

Aggressive Surgical Management of Congenital Diaphragmatic Hernia: Worth the Effort?: A Multicenter, Prospective, Cohort Study.

Objective: The objectives of this study were (i) to evaluate infants with congenital diaphragmatic hernia (CDH) that do not undergo repair, (ii) to identify nonrepair rate by institution, and (iii) to compare institutional outcomes based on nonrepair rate.

Background: Approximately 20% of infants with CDH go unrepaired and the threshold to offer surgical repair is variable.

Methods: Data were abstracted from a multicenter, prospectively collected database.

Does the ex utero intrapartum treatment to extracorporeal membrane oxygenation procedure change morbidity outcomes for high-risk congenital diaphragmatic hernia survivors?

Purpose: In high-risk congenital diaphragmatic hernia (CDH), significant barotrauma or death can occur before extracorporeal membrane oxygenation (ECMO) can be initiated. We previously examined ex utero intrapartum treatment (EXIT)-to-ECMO in our most severe CDH patients, but demonstrated no survival advantage. We now report morbidity outcomes in survivors of this high-risk cohort to determine whether EXIT-to-ECMO conferred any benefit.

De novo frameshift mutation in COUP-TFII (NR2F2) in human congenital diaphragmatic hernia.

COUP-TFII (NR2F2) is mapped to the 15q26 deletion hotspot associated with the common and highly morbid congenital diaphragmatic hernia (CDH). Conditional homozygous deletions of COUP-TFII in mice result in diaphragmatic defects analogous to the human Bochdalek-type hernia phenotype. Despite evidence from animal models however, mutations in the coding sequence of COUP-TFII have not been reported in patients, prompting the speculation that additional coding or non-coding sequences in the 15q26 locus are necessary for diaphragmatic hernias to develop.

Diverse Morbidity and Mortality Among Infants Treated with Venoarterial Extracorporeal Membrane Oxygenation.

Background: Venoarterial extracorporeal membrane oxygenation (VA-ECMO) is utilized for cardiopulmonary failure. We aimed to qualify and quantify the predictors of morbidity and mortality in infants requiring VA-ECMO.

Methods: Data was collected from 170 centers participating in the extracorporeal life support organization (ELSO) registry.

Pulmonary support on day of life 30 is a strong predictor of increased 1 and 5-year morbidity in survivors of congenital diaphragmatic hernia.

Purpose: Pulmonary support (PS) on day-of-life-30 (DOL-30) has been shown to be the strongest predictor of subsequent morbidity and in-patient mortality in congenital diaphragmatic hernia (CDH). We hypothesized that PS on DOL-30 can also predict long-term outcomes in CDH survivors.

Methods: We analyzed records of 201 CDH survivors followed by a single multidisciplinary clinic (1995-2010).

Nutritional outcomes in survivors of congenital diaphragmatic hernia (CDH)-factors associated with growth at one year.

Background: Malnutrition is prevalent among congenital diaphragmatic hernia (CDH) survivors. We aimed to describe the nutritional status and factors that impact growth over the 12-months following discharge from the pediatric intensive care unit (PICU) in this cohort.

Methods: CDH survivors, who were discharged from the PICU from 2000 to 2010 with follow-up of at least 12months, were included.

Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.

Congenital diaphragmatic hernia (CDH) is a common and severe birth defect. Despite its clinical significance, the genetic and developmental pathways underlying this disorder are incompletely understood. In this study, we report a catalog of variants detected by a whole exome sequencing study on 275 individuals with CDH.

Sensorineural hearing loss in congenital diaphragmatic hernia survivors is associated with postnatal management and not defect size.

Background/purpose: We determined the incidence of sensorineural hearing loss (SNHL; >20dB at any frequency) in a contemporary cohort of congenital diaphragmatic hernia (CDH) survivors at a single tertiary care center and identified potential risk factors for SNHL.

Methods: From 2000 through 2011, clinical and audiologic data were collected on 122 surgically-repaired Bochdalek CDH patients. CDH defect size, duration of ventilation, and cumulative aminoglycoside treatment were used for multivariate logistic regression.

Health and housing outcomes from green renovation of low-income housing in Washington, DC.

Green building systems have proliferated recently, but studies are limited of associated health and housing outcomes. The authors measured self-reported resident physical and mental health, allergens, and building conditions at baseline and one-year follow-up in a low-income housing development being renovated in accordance with green healthy housing improvements (Enterprise Green Communities standards and Leadership in Energy & Environmental Design [LEED] gold certification). Self-reported general health in adults significantly improved from 59% to 67% (p = .

Standardized reporting for congenital diaphragmatic hernia--an international consensus.

Background/purpose: Congenital diaphragmatic hernia (CDH) remains a significant cause of neonatal death. A wide spectrum of disease severity and treatment strategies makes comparisons challenging. The objective of this study was to create a standardized reporting system for CDH.

Pulmonary support on day 30 as a predictor of morbidity and mortality in congenital diaphragmatic hernia.

Purpose: Congenital diaphragmatic hernia (CDH) is associated with significant in-hospital mortality, morbidity and length-of-stay (LOS). We hypothesized that the degree of pulmonary support on hospital day-30 may predict in-hospital mortality, LOS, and discharge oxygen needs and could be useful for risk prediction and counseling.

Methods: 862 patients in the CDH Study Group registry with a LOS ≥ 30 days were analyzed (2007-2010).

Obstruction of the superior vena cava after neonatal extracorporeal membrane oxygenation: association with chylothorax and outcome of transcatheter treatment.

Background: Obstruction of the superior vena cava is one of the potential complications of neonatal extracorporeal membrane oxygenation. Chylothorax is a known complication of surgery involving the thoracic cavity in children, and of extracorporeal membrane oxygenation. The aim of this study was to evaluate the association between chylothorax and superior vena cava obstruction after neonatal extracorporeal membrane oxygenation.

Congenital diaphragmatic hernia associated with esophageal atresia: incidence, outcomes, and determinants of mortality.

Background: Congenital diaphragmatic hernia (CDH) and esophageal atresia (EA) are fairly common congenital anomalies, but the occurrence of both is exceedingly rare, with only anecdotal cases reported in the English literature. The primary objective of the current study is to assess the incidence and outcomes of CDH/EA using the Congenital Diaphragmatic Hernia Study Group registry.

Study Design: The Congenital Diaphragmatic Hernia Study Group registry was queried from January 2000 through August 2011.