Safety of Rotavirus Vaccination in Preterm Infants Admitted in Neonatal Intensive Care Units in Sicily, Italy: A Multicenter Observational Study

2023

Rotavirus (RV) is among the most common vaccine-preventable diseases in children under five years of age. Despite the severity of rotavirus pathology in early childhood, rotavirus vaccination for children admitted to the neonatal intensive care unit (NICU), who are often born preterm and with various previous illnesses, is not performed. This multicenter, 3-year project aims to evaluate the safety of RV vaccine administration within the six main neonatal intensive care units of the Sicilian Region to preterm infants. Methods: Monovalent live attenuated anti-RV vaccination (RV1) was administered from April 2018 to December 2019 to preterm infants with gestational age ≥ 28 weeks. Vaccine a…

Genetic and clinical profile of a sicilian population with R92Q mutation

2017

Gene TNFRSF1A mutation is linked to TRAPS, autosomal dominant Autoinflammatory Disease (AID) with recurrent attacks of fever (2-3 weeks long), abdominal pain, vomiting, serositis, arthralgia and/or arthritis, myalgia, fasciitis, rash. The disease starts precociously and amyloidosis is reported in the 25% of the patients. Patients carrying the mutation R92Q usually show a mild clinical phenotype, with an extreme interindividual variability. Arthralgia and serositis are frequently less severe, however oral ulcers and pharyngitis are recurrent. Objectives: We studied the clinical and biochemical impact of the mutation R92Q in our population and the treatment outcome in all the patients with cl…

Use of Zoledronic Acid in a Neonate with Subcutaneous Fat Necrosis Complicated with Severe, Refractory Hypercalcemia.

2019

Objective Subcutaneous fat necrosis (SCFN) is a rare condition that may occur in the neonatal period. SCFN is an inflammatory disorder of the adipose tissue, usually found in full-term healthy infants who have a history of intrauterine or perinatal distress. It is usually a self-limited condition; however, in some cases, it can get complicated, leading to severe hypercalcemia that may be life-threatening. Study Design We report and describe a classic presentation of SCFN that led to severe hypercalcemia refractory to standard treatment. The diagnosis of SCFN was made based on the finding of subcutaneous nodules and of hypercalcemia. The serum calcium level reached 16.6 mg/dL. Hypercalcemia…

TERAPIA CON MECASERMINA IN UN BAMBINO CON IPERINSULINISMO CONGENITO DA MUTAZIONE DI INS-R

2017

PRESENTAZIONE DEL CASO, STORIA CLINICA E SINTOMATOLOGIA L’uso per fi ni terapeutici della Mecasermina, insulin-like growth factor 1 (IGF1) umano ricombinante trova indicazione nella terapia della bassa statura di bambini con un defi cit primitivo documentato di IGF-1. Il Leprecaunismo, noto come S. di Donohue, è una rara patologia congenita caratterizzata da insulino-resistenza, severo defi cit accrescitivo intra-uterino e post-natale, fenotipie caratteristiche, alterazione del controllo dell’assetto glicemico, con iperinsulinismo e iperandrogenismo associato. L’outcome prognostico è segnato da morte entro il primo anno di vita in quasi tutti i pazienti descritti. Descriviamo l’outcome di u…

Efficacy of Mecasermin Treatment and Long-Term Survival in a Child with Leprechaunism

2018

Homozygous mutation of Insulin receptor (INS-R) gene cause an extremely rare disease called Leprechaunism, and induce intrauterine growth restriction with poor postnatal growth, hyperinsulinemia, postprandial hyperglycaemia, pre-prandial hypoglycaemia, typical facies, lack of subcutaneous fat, thick skin, hypertrichosis, macrogenitosomia in males. The survival is severely compromised in these patients. Treatment with diazoxide could ameliorate glycaemic control, however these patients are signed by a high precocious lethality into the first 1-2 years of life. Anecdotical cases are described with a longer survival. We describe the clinical case of a child with Leprechaunism, born from consan…

Genetic and clinical profile of a paediatric population with FMF in Sicily

2017

Familial Mediterranean fever (FMF) is an Autoinflammatory syndrome that is common in children in Mediterranean countries. The real prevalence of FMF in Sicilian children is unknown and need a wide population study. Furthermore, there are no data on the real prevalence of the different mutations between FMF patients and the concordance and/or discordance in clinical and biochemical parameters between patients of different generations.

Terapia con Mecasermina in un bambino con iperinsulinismo congenito da mutazione INS-R

2017