Unlabelled: AimThe aim of this study was to determine the spontaneous closure rate of patent ductus arteriosus at a 2-year follow-up, following failed medical therapy and beyond initial hospital discharge, and to evaluate in-hospital spontaneous or pharmacological closure rates.Materials and methodsA retrospective evaluation was conducted in a cohort of preterm infants admitted to the Neonatal ICU of Ancona between January, 2004 and June, 2013. Inclusion criteria were gestational age between 24+0 and 29+6 weeks or birth weight 1.
View Article and Find Full Text PDFBartter syndrome (BS) type 1 (OMIM #601678) is a hereditary salt-losing renal tubular disorder characterized by hypokalemic metabolic alkalosis, hypercalciuria, nephrocalcinosis, polyuria, recurrent vomiting, and growth retardation. It is caused by loss-of-function mutations of the gene, encoding the furosemide-sensitive Na-K-Cl cotransporter. Recently, a phenotypic variability has been observed in patients with genetically determined BS, including absence of nephrocalcinosis, hypokalemia, and/or metabolic alkalosis in the first year of life as well as persistent metabolic acidosis mimicking distal renal tubular acidosis.
View Article and Find Full Text PDFInfantile hepatic hemangioma can be associated to consumptive hypothyroidism due to overexpression of type 3 deiodinase in the endothelium of vascular tumor, which catalyzes the conversion of T4 to reverse T3 (rT3) and of T3 to T2, both of which are biologically inactive. Here, we report an infant with a massive biopsy-proven infantile hepatic hemangioma who developed thyroid dysfunction without a typical biochemical profile consistent with severe consumptive hypothyroidism, despite the large tumor burden. Our patient was treated with propranolol that rapidly resolved both hepatic hemangioma and thyroid dysfunction.
View Article and Find Full Text PDFBackground: A previously unrecognized syndrome with congenital neutropenia and various organ abnormalities has been described recently, caused by mutations in the gene encoding glucose-6-phosphatase, catalytic subunit 3 (G6PC3).
Observation: A 10-year-old boy from Ecuador suffering from severe neutropenia and multiple nonhematopoietic abnormalities was admitted to our department. We identified a novel mutation in the G6PC3 gene (c.