Glucokinase mutations in pediatric patients with impaired fasting glucose.

AIMS: Our aim was to detect the frequency of glucokinase (GCK) gene mutations in a cohort of patients with impaired fasting glucose and to describe the clinical manifestations of identified variants. We also aimed at predicting the effect of the novel missense mutations by computational approach. METHODS: Overall 100 unrelated Italian families with impaired fasting glucose were enrolled and subdivided into two cohorts according to strict and to mild criteria for diagnosis of maturity-onset diabetes of the young (MODY). GCK gene sequencing was performed in all participants. RESULTS: Fifty-three Italian families with 44 different mutations affecting the GCK and co-segregating with the clinical phenotype of GCK/MODY were identified. All mutations were in heterozygous state. In Sample 1, GCK defects were found in 32/36 (88.9%) subjects selected with strict MODY diagnostic criteria, while in Sample 2 GCK defects were found in 21/64 (32.8%) subjects selected with mild MODY diagnostic criteria. CONCLUSIONS: Our study enlarged the wide spectrum of GCK defects by adding 9 novel variants. The application of strict recruitment criteria resulted in 88.9% incidence of GCK/MODY, which confirmed it as the commonest form of MODY in the Italian population. In order to avoid misdiagnosis of GCK/MODY, it could be useful to perform molecular screening even if one or more clinical parameters for the diagnosis of MODY are missing. Computational analysis is useful to understand the effect of GCK defect on protein functionality, especially when the novel identified variant is a missense mutation and/or parents' DNA is not available.

[Prevalence of patients with HIV infection in an emergency department]. / Prevalenza di pazienti con infezione da HIV in un dipartimento di emergenza.

The activity at an ED, primarily aiming at providing rational and qualified support to critically ill patients, is forced to manage very different nosographic entities, including infectious, often contagious, pathologies. In this context the diffusion of HIV infection poses a number of problems concerning both the kind of patients presenting to the ED and the professional risk of health-care workers. In the first four months of 1992 the incidence of patients with recognized or presumed HIV infection at the "Pronto Soccorso Medico" was of 1.78% of 2327 patients admitted. This study aims to contribute to the epidemiologic definition of the risk of HIV infection due to occupational exposure, stressing the peculiar conditions of urgency-emergency often characterizing the activity within the ED.