A Black Hole? Epidemiological and molecular biological studies on the etiology of Congenital Diaphragmatic Hernia

摘要: textabstractCongenital Diaphragmatic Hernia (CDH) is a severe birth defect that affects approximately 1 in 3,000 newborns. The etiology of CDH largely unknown. clinical presentation variable, but usually characterized by cardiopulmonary distress caused underdevelopment the lungs and pulmonary vasculature. In this thesis we have reviewed current knowledge on role nutrition, life style factors genes human CDH. part I, epidemiological studies, demonstrated newborns with significantly lower levels retinol retinol-binding protein (RBP) cord blood as compared to healthy Levels case control mothers were comparable. However, found intake vitamin A normal weight during pregnancy. Although relationship methylation pathway has been hypothesized, could not identify difference between homocysteine, s-adenosyl methionine (SAM) S-adenosyl homocysteine (SAH). In II, molecular biological describe model study lung development hypoxia–related development. This can be used manipulate growth pharmacological agents or signaling molecules such derivatives. Further, studied expression metabolic actors human, rat rabbit lung. We disturbed CDH, probably at different level than animal models