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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 1.5 mm, a left atrium-to-aorta ratio >1.4, and/or reversal of end-diastolic flow in the aorta >30% of the anterograde. First-line treatment was intravenous ibuprofen. Intravenous indomethacin was used if ibuprofen failed. Surgical ligation was considered in haemodynamically significant patent ductus arteriosus after medical treatment.ResultsA total of 593 infants met the inclusion criteria, and patent ductus arteriosus was diagnosed in 317 (53.4%). Among them, 283 (89.3%) infants had haemodynamically significant patent ductus arteriosus, with pharmacological closure achieved in 228 (80.6%) infants and surgical ligation performed in 20 (7.1%). Follow-up at 24 months was available for 39 (81.3%) of 48 infants with patent ductus arteriosus at the hospital discharge: 36 (92.3%) underwent spontaneous closure, two (5.1%) underwent surgical ligation, and one (2.6%) had a patent ductus arteriosus.DiscussionA significant number of patent ductus arteriosus that fail pharmacological closure undergo spontaneous closure by the age of 2 years. This information should be taken into account when considering surgery or additional attempts of pharmacological closure.

The incidence of type 1 diabetes in childhood is increasing by 3 % per year, placing growing demands on healthcare professionals and medical expenditures. Aim of this study wars to assess the organization of care to children with diabetes in Italy.During 2012 a structured questionnaire was sent to all of the members of Italian Society of Paediatric Endocrinology and Diabetology (ISPED). Questions examined organizational structure of Centers, personnel dedicated to the care of children with diabetes, number of subjects followed, local legal legislation supporting centres.A total of 68 centers taking care to 15,563 children and adolescents with diabetes under 18 years of age were identified with a prevalence of 1.4 per 1,000 people. A wide variation in the organizational background was also reported. Fourty-four centers were organized as outpatient departments, 17 as simple units, 5 as complex units and 2 as simple departmental structures. Most centers had a multidisciplinary team. Ten out of twenty Italian regions had introduced supportive regional legislation, but it was fully applied only in six of them.Great differences between regions were found in organizational structures, staffing levels and supportive legislation. The national legislation on diabetes was broadly implemented throughout the country regions. Further efforts are needed to improve standards and consistency of pediatric diabetes care in Italy.

Infantile 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. We propose propranolol as a first-line therapy of thyroid dysfunction associated with infantile hepatic hemangioma, in order to avoid interference with neurological development caused by hypothyroidism in the first months of life.

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).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. 765_delAG; p.S255fs).This is the first case of G6PC3 deficiency in a patient from South America, caused by a novel mutation in the G6PC3 gene. Our results give insights into the molecular and clinical variability of this disease.