Congenital diaphragmatic hernia (CDH) is a serious birth defect that accounts for 8% of all major birth anomalies. Approximately 40% of cases occur in association with other anomalies. As sporadic complex CDH likely has a significant impact on reproductive fitness, we hypothesized that de novo variants would account for the etiology in a significant fraction of cases. We performed exome sequenc...

In the September 2003 issue of Pediatrics, Stege et al1 discuss the effect of new therapies for congenital diaphragmatic hernia (CDH) on survival. They point out that studies reporting improved survival using high-frequency ventilation, extracorporeal membrane oxygenation, inhaled nitric oxide, and delayed surgery are flawed by selection bias and conclude, after assessing 185 cases of CDH from ...

congenital diaphragmatic hernia (cdh) is a rare anomaly with a reported incidence of 1 in 16,000 populations. it may be associated with herniation of stomach, intestinal loops, spleen, and kidney through a chest wall defect. we report a case of a 1 year old male child who presented with recurrent fever, occasional chills and rigor of 4 months duration. left kidney was non visualised on ultrasou...

Pulmonary hypoplasia and hypertension account for significant morbidity and mortality in neonates with congenital diaphragmatic hernia (CDH). Whether CDH is associated with surfactant dysfunction remains controversial. Therefore, we measured disaturated phosphatidylcholine (DSPC) and surfactant protein (SP)-B concentration in tracheal aspirates and their synthesis rate in infants with CDH compa...

BACKGROUND Patients with congenital diaphragmatic hernia (CDH) have structural and functional different pulmonary vessels, leading to pulmonary hypertension. They often fail to respond to standard vasodilator therapy targeting the major vasoactive pathways, causing a high morbidity and mortality. We analyzed whether the expression of crucial members of these vasoactive pathways could explain th...

OBJECTIVE To describe the use of inhaled nitric oxide (INO) in newborns with congenital diaphragmatic hernia (CDH). METHODS Pediatric Health Information System data were queried for newborns with CDH admitted at <8 days of age at tertiary care US pediatric hospitals between 2003 and 2011. INO treatment status and timing in relation to CDH repair were determined for each infant. Hospital-speci...

Congenital diaphragmatic hernia (CDH) is a rare anomaly with a reported incidence of 1 in 16,000 populations. It may be associated with herniation of stomach, intestinal loops, spleen, and kidney through a chest wall defect. We report a case of a 1 year old male child who presented with recurrent fever, occasional chills and rigor of 4 months duration. Left kidney was non visualised on ultrasou...

Congenital diaphragmatic hernia (CDH) is a life-threatening condition characterized by the herniation of abdominal organs into thorax, resulting in hypoplastic lungs and pulmonary hypertension. The impact first cry, crucial event for lung transition during birth, on CDH patients remains unclear. This study investigated cry birth patient survival, along with other prognosis factors. A multi-inst...

Measurement of the diaphragm electromyogram (EMGdi) elicited by phrenic nerve stimulation could be useful to assess neonates suffering from respiratory distress due to diaphragm dysfunction, as observed in infants with abdominal wall defects (AWD) or congenital diaphragmatic hernia (CDH). The study aims were to assess the feasibility of recording EMGdi using a multipair oesophageal electrode ca...