Congenital Diaphragmatic Hernia: Epidemiology and Outcome
Congenital diaphragmatic hernia affects over 1000 babies born in the United States each year. 4% to 10% of infant deaths from all congenital anomalies are caused by diaphragmatic hernias. Survivors often suffer significant morbidity. When compared with trauma, cancer, and AIDS, it is clear that this birth defect represents a significant public health problem for children.
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Risk Factors for Preoperative Pneumothorax in Neonates With Isolated Left-Sided Congenital Diaphragmatic Hernia: An International Cohort Study
2024, Journal of Pediatric SurgeryWe aimed to investigate the clinical characteristics and outcomes of patients with isolated left-sided congenital diaphragmatic hernia (CDH) who developed preoperative pneumothorax and determine its risk factors.
We performed an international cohort study of patients with CDH enrolled in the Congenital Diaphragmatic Hernia Study Group registry between January 2015 and December 2020. The main outcomes assessed included survival to hospital discharge and preoperative pneumothorax development. The cumulative incidence of pneumothorax was estimated by the Gray test. The Fine and Gray competing risk regression model was used to identify the risk factors for pneumothorax.
Data for 2858 neonates with isolated left-sided CDH were extracted; 224 (7.8%) developed preoperative pneumothorax. Among patients with a large diaphragmatic defect, those with pneumothorax had a significantly lower rate of survival to discharge than did those without. The competing risks model demonstrated that a patent ductus arteriosus with a right-to-left shunt flow after birth (hazard ratio [HR]: 1.78; 95% confidence interval [CI]: 1.21–2.63; p = 0.003) and large defects (HR: 1.65; 95% CI: 1.13–2.42; p = 0.01) were associated with an increased risk of preoperative pneumothorax. Significant differences were observed in the cumulative incidence of pneumothorax depending on defect size and shunt direction (p < 0.001).
Pneumothorax is a significant preoperative complication associated with increased mortality in neonates with CDH, particularly in cases with large defects. Large diaphragmatic defects and persistent pulmonary hypertension were found to be risk factors for preoperative pneumothorax development.
LEVEL Ⅲ Retrospective Comparative Study.
Increased Elastase and Matrix Metalloproteinase Levels in the Pulmonary Arteries of Infants With Congenital Diaphragmatic Hernia
2024, Journal of Pediatric SurgeryPulmonary vascular disease (PVD) complicated with pulmonary hypertension (PH) is a leading cause of mortality in congenital diaphragmatic hernia (CDH). Unfortunately, CDH patients are often resistant to PH therapy. Using the nitrogen CDH rat model, we previously demonstrated that CDH-associated PVD involves an induction of elastase and matrix metalloproteinase (MMP) activities, increased osteopontin and epidermal growth factor (EGF) levels, and enhanced smooth muscle cell (SMC) proliferation. Here, we aimed to determine whether the levels of the key members of this proteinase-induced pathway are also elevated in the pulmonary arteries (PAs) of CDH patients.
Neutrophil elastase (NE), matrix metalloproteinase-2 (MMP-2), epidermal growth factor (EGF), tenascin-C, and osteopontin levels were assessed by immunohistochemistry in the PAs from the lungs of 11 CDH patients and 5 normal age-matched controls. Markers of proliferation (proliferating cell nuclear antigen (PCNA)) and apoptosis (cleaved (active) caspase-3) were also used.
While expressed by both control and CDH lungs, the levels of NE, MMP-2, EGF, as well as tenascin-C and osteopontin were significantly increased in the PAs from CDH patients. The percentage of PCNA-positive PA SMCs were also enhanced, while those positive for caspase-3 were slightly decreased.
These results suggest that increased elastase and MMPs, together with elevated tenascin-C and osteopontin levels in an EGF-rich environment may contribute to the PVD in CDH infants. The next step of this study is to expand our analysis to a larger cohort, and determine the potential of targeting this pathway for the treatment of CDH-associated PVD and PH.
Therapeutic.
LEVEL III.
In utero delivery of miRNA induces epigenetic alterations and corrects pulmonary pathology in congenital diaphragmatic hernia
2023, Molecular Therapy Nucleic AcidsStructural fetal diseases, such as congenital diaphragmatic hernia (CDH) can be diagnosed prenatally. Neonates with CDH are healthy in utero as gas exchange is managed by the placenta, but impaired lung function results in critical illness from the time a baby takes its first breath. MicroRNA (miR) 200b and its downstream targets in the TGF-β pathway are critically involved in lung branching morphogenesis. Here, we characterize the expression of miR200b and the TGF-β pathway at different gestational times using a rat model of CDH. Fetal rats with CDH are deficient in miR200b at gestational day 18. We demonstrate that novel polymeric nanoparticles loaded with miR200b, delivered in utero via vitelline vein injection to fetal rats with CDH results in changes in the TGF-β pathway as measured by qRT-PCR; these epigenetic changes improve lung size and lung morphology, and lead to favorable pulmonary vascular remodeling on histology. This is the first demonstration of in utero epigenetic therapy to improve lung growth and development in a pre-clinical model. With refinement, this technique could be applied to fetal cases of CDH or other forms of impaired lung development in a minimally invasive fashion.
Thoracic kidney nephrectomy due to recurrent Bochdalek hernia in an adult
2023, Cirugia EspanolaCongenital diaphragmatic hernia incidence is one in 3000 live births, Bochdalek hernia occurs through a posterolateral defect. It is very rare in adults. We present a case of late relapsed one diagnosed in an adult male. He underwent an open intervention of Bochdalek hernia at first day of life and required reintervention at seventh month due to recurrence. Now, computerized tomography scan demonstrates a right diaphragmatic defect with intrathoracic hydronephrotic kidney. Nephrectomy was performed with Video-assisted Thoracic Surgery using laparoscopic ports and material. The diaphragmatic defect was closed with a polypropylene mesh. The patient was discharged after 72 h.
La incidencia de hernia diafragmática congénita es de uno en 3000 nacidos vivos, la hernia de Bochdalek ocurre a través de un defecto diafragmático posterolateral. Es muy raro en adultos. Presentamos un caso de recidiva tardía diagnosticada en un varón adulto. Se sometió a una intervención abierta de hernia de Bochdalek el primer día de vida y requirió reintervención por recurrencia al séptimo mes. La tomografía computarizada actual demuestra un defecto diafragmático derecho con riñón hidronefrótico intratorácico. Se realizó nefrectomía mediante cirugía torácica vídeo-asistida utilizando puertos y material laparoscópicos. El defecto diafragmático se cerró con una malla de polipropileno. El paciente fue dado de alta a las 72 horas de la intervención.
Description of a case of Morgagni's diaphragmatic hernia with massive pericardial effusion resolved by intrauterine pericardiocentesis
2022, Clinica e Investigacion en Ginecologia y ObstetriciaLas hernias diafragmáticas de Morgagni diagnosticadas prenatalmente son una rara entidad, con menor riesgo asociado de hipoplasia pulmonar y problemas respiratorios que las hernias diafragmáticas posteriores. Nuestro caso pone de manifiesto cómo en los casos de hernia diafragmática de Morgagni los pulmones tienden a desarrollarse completamente, a pesar del significativo derrame pericárdico o cuán disminuidos pueden aparentar.
Hernia diafragmática de Morgagni diagnosticada a las 14 semanas de gestación, con derrame pericárdico masivo y herniación torácica anterior del hígado.
No se identificaron otras malformaciones asociadas, se descartaron otras causas de derrame pericárdico y el cariotipo fetal analizado fue normal. A las 25 semanas, se realizó una pericardiocentesis fetal intrauterina, consiguiendo una significativa distensión pulmonar, con una adecuada vascularización. Tras el nacimiento, la recién nacida precisó soporte ventilatorio debido a una hipoxemia severa causada por la hipertensión pulmonar, corrigiéndose el defecto quirúrgicamente a los 6 días de vida. La evolución posterior fue favorable, sin presentar problemas respiratorios significativos.
La detección ecográfica de esta rara anomalía resulta útil para el manejo óptimo, y el drenaje pericárdico puede favorecer una resolución prenatal del derrame pericárdico, permitiéndonos evaluar de forma adecuada el riesgo de hipoplasia pulmonar.
Morgagni diaphragmatic hernia with prenatal diagnosis is a rare entity, with lower risk of pulmonary hypoplasia and respiratory problems than posterior diaphragmatic hernia. Our case highlights how in Morgagni diaphragmatic hernia cases lungs tend to develop properly, despite significant pericardial effusion or how greatly diminished they may seem.
Morgagni diaphragmatic hernia diagnosed at 14 weeks, with massive pericardial effusion and anterior thoracic herniation of the liver.
No other malformations were identified, other causes of pericardial effusion were ruled out and foetal karyotype was normal. At 25 weeks, in-utero pericardiocentesis was performed, observing significant pulmonary distension and adequate vascularization. After delivery, the newborn required respiratory support due to severe hypoxaemia related to pulmonary hypertension. Six days later surgical diaphragm closure was performed. The newborn had no significant respiratory problems and progressed positively after surgery.
Ultrasonographic detection of this rare anomaly is useful for optimal management, and pericardial drainage can provide prenatal resolution of pericardial effusion, enabling us to evaluate pulmonary hypoplasia risk.
Robotic repair of a giant Larrey-type congenital left-sided diaphragmatic hernia in a young woman. A case report and literature review
2022, International Journal of Surgery Case ReportsCongenital diaphragmatic hernia is a rare condition caused by a malformation in the diaphragm that is usually diagnosed in newborns, infants and children. Sometimes it can be incidentally identified in adults. Once the diagnosis is made, surgery is indicated to avoid the risk of life-threatening complications of herniated viscera. Traditional approaches include laparotomy or thoracotomy or both; in the last decades minimally invasive techniques have proved to be a safe alternative to the open approach but only few cases of robotic hernia repair have been described so far, the most with a combined thoracic-abdomen approach. We report a case of an 18-year-old female presenting with abdominal pain due to a giant left-sided anterior diaphragmatic hernia (Larrey-type) that was repaired using a robotic-assisted laparoscopic approach with mesh placement. The hernia contents included gastric body and fundus, duodenum, jejunum, ileus, cecum, right colon and mesentery; spleen and pancreas were rotated and dislocated anteriorly. The outcome was unremarkable, with no major post-operative complications and no signs of long-term recurrence. The robotic approach seems to be a valid option for the treatment of diaphragmatic hernias, improving post-operative outcome and providing surgeon better visualization, greater precision and enhanced dexterity in a confined space.