0000000000957501
AUTHOR
Marcello Vitaliti
showing 3 related works from this author
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…
The role of a monthly active surveillance programme for multidrug-resistant Gram-negative bacteria in a neonatal intensive care unit: impact evaluati…
2020
Background: Antimicrobial resistance is a public health threat. Neonatal Intensive Care Unit (NICU) patients are particularly at risk, due to the large use of invasive devices and antimicrobial treatment. Since 2014 an active surveillance program of multidrug-resistant organisms is in place in the five NICUs of Palermo, Italy. High prevalence of multidrug-resistant Gram-negative bacteria (MDR-GNB) carriage observed in one NICU suggested the need of a long-lasting approach to achieve effective control of MDR-GNB circulation. Materials/methods: Rectal swabs were obtained every month from each hospitalized new-born. Samples were enriched in liquid cultures, plated in McConkey Agar with three a…