Active clinical trials for "Hernias, Diaphragmatic, Congenital"

This study is a multi-centre, international, prospective cohort study of congenital anomalies to compare outcomes between LMICs and high-income countries (HICs) globally.

This study focuses on the genetics and metabolism of Donnai-Barrow Syndrome (DBS).

Observational longitudinal study in children operated at birth on diaphragmatic hernia and/or oesophageal atresia : assessment of lung function parameters; assessment of quality of life and cognitive development; assessment of stress parenting and strategies of adaptation.

Congenital diaphragmatic hernia (CDH) occurs when the diaphragm, the muscle that separates the chest cavity from the abdominal cavity, does not form properly. When an opening is present in the diaphragm, organs that are normally found in the abdomen can move up into the chest cavity. The primary objective of this study is to generate information about the hereditary basis of congenital diaphragmatic hernia and abnormal lung development. Our long-term goal is to identify ways to treat babies in utero with effective but safe drugs to speed up lung development before birth.

Congenital diaphragmatic hernia (CDH) is a severe congenital malformation, related to a developmental defect of the diaphragm. The incidence of CDH is approximated at 1 in 3,000 live births. Although advances in surgery and neonatal intensive care have improved the prognosis, mortality remains high, around 30-50% related to severe lung hypoplasia and persistent pulmonary hypertension. Prenatal evaluation with observed/expected Lung over Head Ratio (o/e LHR), liver position and total lung volume measured by magnetic resonance, have been shown to correlate with neonatal mortality . However, the preponderant factor of persistent pulmonary hypertension remains difficult to predict prenatally. In patients with isolated diaphragmatic hernia (without associated malformations or karyotype abnormalities), prognosis is evaluated indirectly on pulmonary development from pulmonary volume measurements. Apart from the most caricatural cases with extremely good or very pejorative values, for a large proportion of fetuses with diaphragmatic dome hernia the prognosis remains uncertain. The aim of the proposal is to investigate whether the analysis of the proteom of the amniotic fluid of the fetuses with CDH could give information of a prognostic character. The objective of the study is to identify, from the proteomic profile of the amniotic fluid of mothers whose fetus has CDH, prognostic markers candidates for death at 2 months of the infant. The first step is to carry out an exploratory and non-interventional study on a small sample (n = 10) of the target population. This is a preliminary step before considering, if the results are encouraging, a large-scale study from a biological collection to determine candidate proteins (new biomarkers) which relative expression levels could be used as surrogate marker of pulmonary hypoplasia.

CDH is associated with lung hypoplasia, pulmonary hypertension, and left ventricular hypoplasia. Use of new STE techniques (heart ultrasound) showed that CDH newborns have decreased LV size and function, potentially explaining the non-response to iNO, and that these cardiac findings were associated with poor outcomes. Our hypothesis: CDH newborns persist to have some degree of LV hypoplasia in the pediatric and adolescent life and pulmonary pressures remain increased during growth. Patients with decreased cardiac performance by STE and/or with PH have higher concomitant neonatal or pediatric morbidities and altered neurodevelopmental profile

CDH represents a malformative disorder characterized by an incomplete diaphragm formation. This results in poor lung development (pulmonary hypoplasia), associated with altered vascularization of the lung (pulmonary hypertension), determining respiratory and cardiovascular insufficiency at birth. CDH shows high mortality and significant morbidity so that its prognostic evaluation remains challenging. The measurement of lung area at chest radiography is considered an alternative method to assess lung development in the newborn. A correlation between lung area and functional residual capacity (FRC) was demonstrated in newborns with CDH. However, the relationship between lung area and other aspects of respiratory function has never been investigated. Since CDH compromises lung development as a whole, it is likely to assume that lung area at birth may have an impact on patient's performance at pulmonary function tests during follow-up. In particular, as lung area increased, a trend towards normalization in respiratory function would be expected. Moreover, the role of the radiographic area at birth as a possible predictor of death should be further characterized, aiming to clarify the complex association between lung area and mortality, which is strongly influenced by both pulmonary hypoplasia and pulmonary hypertension. The principal aim of this study is to determine if changes in the radiographic pulmonary area measured on the first day of life are related to patients' pulmonary function at one year of life, considering two main respiratory parameters: tidal volume (VT) and respiratory rate (RR). Secondary objectives are the analysis of the association between radiographic pulmonary area and: 1) risk of death during the first year of life; 2) risk of hernia recurrence during the first year of life. The investigators will retrospectively consider a cohort of newborns with CDH. For each patient, the investigators will measure lung area at chest radiography performed preoperatively within 24 hours after birth and will collect data regarding demographics, clinical course, and follow-up. Through our study, the investigators aim to improve the current understanding of the role of radiographic lung area in characterizing lung development and prognosis in CDH patients. The investigators believe that this could become a low-cost and straightforward tool that will assist the clinician in making decisions regarding the patient's management and follow up.

Congenital Diaphragmatic Hernia (CDH) is characterized by an incomplete diaphragm formation, resulting in poor lung development (pulmonary hypoplasia), associated with altered vascularization of the lung (pulmonary hypertension), with respiratory and cardiovascular insufficiency at birth. Mortality and morbidity are extremely variable. Several efforts have been done to identify possible prenatal and postnatal indicators which could accurately predict patients' prognosis and to promote an individualized management. However, to date the accuracy of these factors with respect to the prediction of survival and disease severity still has limits. In the last years, there has been an impressive development of new research methodologies based on the artificial intelligence, also in the neonatal field. The Machine Learning (ML) method explores the possibility of building algorithms starting from the acquisition of relevant clinical data, and using them to make predictions or take decisions. Nevertheless, the ML method has never been applied to predict patient's outcome in newborns with CDH so far. Moreover, with the available tools, a reliable prediction on patient's risk of developing severe postnatal PH is not feasible. Our hypothesis is that the use of ML approach, based on multivariate analysis of different clinical pre- and postnatal variables, could allow the development of algorithms able to accurately predict patient's outcome.