Spondyloocular syndrome (SOS) is a skeletal disorder caused by pathogenic variants in gene encoding a xylotransferase involved in the biosynthesis of proteoglycans. This condition, with autosomal recessive inheritance, has a high phenotypic variability. It is characterized by bone abnormalities (osteoporosis, fractures), eye and cardiac defects, hearing impairment, and varying degrees of developmental delay.
View Article and Find Full Text PDFOral propranolol reduces retinopathy of prematurity (ROP) progression, although not safely. Propranolol 0.1% eye micro-drops administered to newborns with stage 2 ROP are well-tolerated, but not sufficiently effective.
View Article and Find Full Text PDFGreat variability in enteral feeding practices for very preterm (<32 weeks gestational age-GA) and very low birth weight infants (VLBW; ≤1,500 g) have been reported. We aimed to describe data on enteral feeding in Tuscany (Italy), where a network of 6 donor milk banks is in place. A 4-years (2012-2015) observational study was performed analyzing the database "TIN Toscane online" on very preterm and VLBW infants.
View Article and Find Full Text PDFBackground: Retinopathy of prematurity (ROP) still represents one of the leading causes of visual impairment in childhood. Systemic propranolol has proven to be effective in reducing ROP progression in preterm newborns, although safety was not sufficiently guaranteed. On the contrary, topical treatment with propranolol eye micro-drops at a concentration of 0.
View Article and Find Full Text PDFMinerva Pediatr (Torino)
February 2023
Background: Today, few studies have been accomplished in order to determine serum creatine kinase (CK) activity in newborns by considering small groups of babies and without taking into account gestational age (GA) differences. Some authors have demonstrated that neonatal CK activity value at birth is higher than the normal range of CK activity considering for adults or older children. The objective of this study is to assess normal values of CK and MB-CK in neonatal blood, according to babies' GA.
View Article and Find Full Text PDFBackground: Oral propranolol reduces retinopathy of prematurity (ROP) progression, although not safely. This study evaluated safety and efficacy of propranolol eye micro-drops in preterm newborns with ROP.
Methods: A multicenter open-label trial, planned according to the Simon optimal two-stage design, was performed to analyze safety and efficacy of propranolol micro-drops in newborns with stage 2 ROP.
Aim: All women delivering a preterm infant should receive antenatal corticosteroid prophylaxis, but many miss this opportunity. We determined the risk factors associated with missed prophylaxis in a geographically defined area of Italy.
Methods: We prospectively studied all mothers who delivered babies between 24 and 31 completed weeks of gestation, from 2009 to 2013, in all maternity units in Tuscany.
J Pediatr Endocrinol Metab
May 2014
Background: The cause of hyperglycemia, a frequent disorder of glucose homeostasis in very preterm infants, is still unknown.
Objectives: Determine the glucagon and insulin plasma levels at birth in healthy, appropriate for gestational age (AGA) infants born by elective cesarean section (ECS), at different gestational age.
Methods: Glucagon, insulin and the homeostasis model of assessment-insulin resistance (HOMA-IR) index were measured in cord blood in 52 AGA infants divided into three groups: ≤30 weeks, very preterm (VP, n=16); 35-37 weeks, late preterm (LP, n=18); ≥38 weeks, full term (FT, n=18).
Objectives: This study aims to determine whether or not treatment of preterm neonates with PDA using IV ibuprofen can impair renal function and in what range of birth weights and gestational ages the risk of major renal side-effects due to ibuprofen is highest.
Methods: 134 preterm newborns with PDA were enrolled and randomized to receive either placebo or a 3-day-course (10, 5 and 5 mg/kg) of IV ibuprofen. 67 newborns (mGA: 27(+3) w and mBW: 989 g) with PDA received ibuprofen.