BACKGROUND Major findings of myelodysplasia, infection, restriction of growth, adrenal hypoplasia, genital phenotypes, and enteropathy (MIRAGE) syndrome is a rare genetic condition caused by a gain-of-function mutation in the SAMD9 gene. It acts as a growth repressor expressed in the endothelial cells. Pathogenic variants in the SAMD9 gene lead to profound growth-restricting activity intrinsic to the protein, which further reduces cellular proliferation and instigates this growth-limiting condition.
View Article and Find Full Text PDFPleural effusion is an extremely rare complication in neonates after umbilical venous catheterization that can present with respiratory distress, a neonatal emergency. It needs timely intervention to reduce respiratory distress. We report an interesting and rare case where a term newborn developed right-sided pleural effusion after umbilical venous catheter (UVC) insertion and starting on total parenteral nutrition (TPN).
View Article and Find Full Text PDFCentral venous lines are an essential part of neonatal intensive care and are used for infusion of medications and parenteral nutrition (PN). PN is usually given via either peripherally inserted central lines or umbilical venous lines. Occasionally, central venous catheters (CVCs) are inserted in the femoral veins.
View Article and Find Full Text PDFBackground: Values of regional cerebral tissue oxygen saturation (cStO2) have been described during transition of term and preterm infants after birth. However, use of different devices precludes comparison of measurements.
Objective: To measure cStO2 during transition of term infants using a calibrated 4-wavelength laser light source near-infrared spectroscopy oximeter (FORE-SIGHT) to obtain data that allow comparison with cStO2 of very-low-birth-weight (VLBW) infants using this oximeter and with cStO2 of term infants using different oximeters.