0000000001026093
AUTHOR
G. Serra
showing 5 related works from this author
POTENZIALI EVOCATI VISIVI DA FLASH IN GEMELLI IN EPOCA NEONATALE. CORRELAZIONI CON LA ADEGUATEZZA DEL PESO CON LA ETA' GESTAZIONALE (AGA VS SGA)
2017
Neonati AGA, SGA, PEV
IPOGLICEMIA NEONATALE: RILIEVI EPIDEMIOLOGICI IN UN CAMPIONE DI NEONATI RICOVERATI (2012-2017)
2017
ipoglicemia neonatale
Malformations of central nervous system: General issues
2013
Malformations of the central nervous system (CNS) encompass a heterogeneous group of congenital anomalies that may be isolated or appear as part of a genetic syndrome. Advances in identifying the genetic etiology underlying many CNS malformation and syndromes have led to the current genetic-based classifications that allows us to better estimate prognosis and potential complications. Herein, we discuss the main genetic, clinical and radiological features and their implications for diagnostic testing and disease management
A new mutation in EDA gene in X-linked hypohidrotic ectodermal dysplasia associated with keratoconus
2012
Hypohidrotic ectodermal dysplasia (HED) was first described in 1848 by Thurnam. HED belongs to ectodermal dysplasias (EDs), which are developmental impairments of ectodermal-derived tissues. X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the EDs and consists in abnormal development of teeth, hair, and eccrine sweat glands. XLHED is determined by mutations in the ED1 gene, which is responsible for the coding of ectodysplasin-A(EDA-A), a protein that regulates ectodermal appendage formation. In the present study we found both in our proband and in the mother the same missense mutation in exon 9 (c.957 CA), which resulted in an aminoacid change at position 319 (S…
Platelet count does not predict bleeding in cirrhotic patients: Results from the PRO-LIVER Study
2018
OBJECTIVES: Thrombocytopenia is a hallmark for patients with cirrhosis and it is perceived as a risk factor for bleeding events. However, the relationship between platelet count and bleeding is still unclear. METHODS: We investigated the relationship between platelet count and major or clinical relevant nonmajor bleedings during a follow-up of â¼4 years. RESULTS: A total of 280 cirrhotic patients with different degrees of liver disease (67% males; age 64±37 years; 47% ChildâPugh B and C) were followed up for a median of 1,129 (interquartile range: 800â1,498) days yielding 953.12 patient-year of observation. The annual rate of any significant bleeding was 5.45%/year (3.57%/year and 1.8…