Pediatr Crit Care Med 2014 • Volume 15 • Number 4 (Suppl.) weight was 3200 +/-450 grams. Access via femoral vein was in 85% patients while umbilical vein access was in 15% of patients. Oxigen arterial saturation, which is an indicator of success of procedure, was higher than 60% in 16 patients after 5 minutes, while two patients underwent surgical corection.The size of the defect after BAS was 3-5 mm greater than start mesurement in 75% patients (p<0,005). Conclusions: Ultrasound controlled BAS offers fast and efficient team treatment, performed in PICU, at bedside, reducing harmful effects of X radiation.We recommend Colour two-dimensional ultrasound techique for fast diagnosis and treatment.Background and aims: Birth defects are the leading cause of infant mortality in the US and Europe. Unfortunately, the causes of birth defects remain unknown. The current revolution in human genomics is now allowing causative gene discovery in birth defects patients, transforming birth defects research. Aims: Our aims are multiple: 1) to discover novel genes involved in human development and disease, 2) to discover new mechanisms and gene pathways that control embryonic development, 3) to counsel families and 4) importantly, to develop critical prognostic information and therapeutic strategies tailored specifically to the genetics of an individual child. Methods: We present Xenopus, a frog model, as a high-throughput system to study human birth defects. By testing for developmental phenotypes in Xenopus and then performing deep mechanistic analyses, we hope to bolster evidence for disease causality. (Approved by Yale Animal Care and Use Committee). Results: Our results demonstrate that we can readily recapitulate human congenital malformation phenotypes in Xenopus, and discover developmental mechanisms that are novel. These approaches have already led to unexpected findings in the causes of birth defects (Zaidi et al. Nature 2013) and developmental mechanisms (Boskovski et al Nature 2013). Conclusions: Studying our patients with state of the art human genomics, is discovering many novel genes. The analysis of these genes will not only markedly improve our understanding of the basic biology, but also usher in a new era of personalized medicine for our birth defect patients.
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