View clinical trials related to Diaphragmatic Eventration.
Filter by:The imaging manifestations of diaphragmatic hernia and diaphragmatic distension were retrospectively analyzed and summarized, combined with the surgical findings, to summarize the differences in indirect signs of diaphragmatic hernia and diaphragmatic distension, so as to achieve the purpose of differential diagnosis.Research contents: (1) To summarize the characteristics of indirect imaging signs in patients with diaphragmatic hernia, to sum up the incidence of each sign, to find new signs and the prognosis of each sign; (2) Summarize the characteristics of indirect imaging signs in patients with diaphragmatic distension, summarize the incidence of each sign, and search for new signs and the prognosis of each sign; (3) To summarize the differences in indirect signs of diaphragmatic hernia and diaphragmatic distension, as well as the differences in their incidence, and combined with their surgical findings, to summarize their image identification points
A diaphragmatic eventration is an abnormal and permanent elevation of a portion or an entire intact hemidiaphragm. This rare pathology, found in 0.2 - 1 for every 1000 patients in large radiological series, is either congenital or acquired due to phrenic nerve palsy. Most diaphragmatic eventrations are asymptomatic and discovered thanks to chest x-rays, where the diaphragmatic dome is elevated and visualized above the 4th intercostal space and sometimes up to the clavicle. Computed tomography or magnetic resonance imaging confirms the eventration by visualizing the diaphragmatic muscle distended and intact, unlike a diaphragmatic rupture or hernia. Surgical indications are usually due to respiratory disorders or visceral repercussions, such as gastric emptying disorders or acute accidents like gastric volvulus. Surgical treatment is a phrenic plication, which can be performed via a lateral thoracotomy (classical approach), thoracoscopy or laparoscopy. When surgery is not indicated, follow up consists of regular clinical and radiological monitoring. There is, however, no consensus when it comes to their medical and surgical management due to the very low number of patients per center and per year, and the fact that very few studies specifically address this subject in the literature.
The purpose of this study is to understand the genetic causes of congenital diaphragmatic disorders (CDD), namely congenital diaphragmatic hernia (CDH), eventration and hiatal hernia. Specifically, the investigators plan to: 1. Ascertain informative families and sporadic cases with congenital diaphragmatic disorders and obtain appropriate phenotypic data and genetic material (peripheral blood and/or diaphragm tissue sample). 2. Localize the gene(s) for CDD to specific chromosomal segments using linkage analysis, and determine the role of somatic mutations in CDD. 3. Isolate and characterize genes involved in the pathogenesis of CDD. 4. Develop molecular markers that will facilitate accurate diagnosis (including prenatal diagnosis) and permit correlation of phenotypic variation with specific mutations. 5. Compare RNA-sequencing from tissue samples of children without CDH to those children with CDH.