In recent decades, new research into the developmental defects and pathophysiological basis of congenital diaphragmatic hernia (CDH) has revealed opportunities for the development of innovative therapies. Importantly, the use of animal models to represent this anomaly in the laboratory has resulted in the discovery of many important genetic, epigenetic, and other molecular contributors to this ...

Neonatal diabetes mellitus (NDM) is a rare metabolic disorder, affecting approximately 1 in 500,000 live births. The management of NDM is challenging, as the benefits of controlling hyperglycemia must be balanced with the risks of iatrogenic hypoglycemia. NDM occurs in both permanent and transient forms, which have been genetically and phenotypically well characterized. Herein, we present the p...

We report the case of a neonate affected by prenatally diagnosed congenital diaphragmatic hernia (CDH), treated by thoracoscopy. During the procedure, we detected an associated extralobar pulmonary sequestration (EPS), which was preoperatively undiagnosed, and we removed it. EPS has been shown to be associated with CDH in up to 15 to 40% of cases. A possible explanation hypothesized is that pul...

PURPOSE The aim of the study was to determine clinical indications for performing minimally invasive surgery (MIS) with acceptable results by reviewing our experience in congenital diaphragmatic hernia (CDH) repair and comparing outcomes of MIS with open surgery. METHODS Medical records of patients who underwent CDH repair were reviewed retrospectively between January 2008 and December 2012, ...

BACKGROUND Congenital diaphragmatic hernia (CDH) is a condition with a highly variable outcome. Some infants have a relatively mild disease process, whereas others have significant pulmonary hypoplasia and hypertension. Identifying high-risk infants postnatally may allow for targeted therapy. METHODS Data were obtained on 2202 infants from the Congenital Diaphragmatic Hernia Study Group datab...

Congenital Diaphragmatic Hernia (CDH) is a complex malformation in the newborn baby. The management, either surgical or non-surgical is an ongoing challenge. Especially in regard to the question how to treat the concomitant pulmonary hypertension best. Here sildenafil, more commonly known in the public as Viagra® and for the treatment of erectile dysfunction seems to have beneficial effects in ...

Congenital diaphragmatic hernia (CDH) is often associated with major anomalies and chromosomal abnormalities. Chromosomal abnormalities are usually detected in 9.5% to 34% of fetuses with CDH prenatally diagnosed and the defect has also been reported in association with multiple syndromes such as Pallister-Killian syndrome, Fryns syndrome, Di George syndrome and Apert syndrome. Among the chromo...

Vasoactive prostanoids may be involved in persistent pulmonary hypertension (PPH) in infants with a congenital diaphragmatic hernia (CDH). We hypothesized that increased levels of prostanoids in bronchoalveolar lavage (BAL) fluid would predict clinical outcome. We measured the concentrations of 6-keto-prostaglandin F(1alpha) (6-keto-PGF(1alpha)), thromboxane B(2) (TxB(2)), protein, albumin, tot...

Congenital diaphragmatic hernia (CDH) is a common (1 in 3,000 live births) major congenital malformation that results in significant morbidity and mortality. The discovery of CDH loci using standard genetic approaches has been hindered by its genetic heterogeneity. We hypothesized that gene expression profiling of developing embryonic diaphragms would help identify genes likely to be associated...

a one-month-old male terrier dog was referred in shock status with a history of anorexia, tachypnea, abdominal distention and progressive weight loss. auscultation of right side of the lungs found enhanced respiratory noises. the thorough auscultation of the opposite side of the chest revealed the presence of typical intestinal sounds. cardiac auscultation revealed muffled heart sounds and a di...