Association of a homozygous GCK missense mutation with mild diabetes

Background: Homozygous inactivating GCK mutations have been repeatedly reported to cause severe hyperglycemia, presenting as permanent neonatal diabetes mellitus (PNDM). Conversely, only two cases of GCK homozygous mutations causing mild hyperglycemia have been so far described. We here report a novel GCK mutation (c.1116G>C, p.E372D), in a family with one homozygous member showing mild hyperglycemia. Methods: GCK mutational screening was carried out by Sanger sequencing. Computational analyses to investigate pathogenicity and molecular dynamics (MD) were performed for GCK-E372D and for previously described homozygous mutations associated with mild (n = 2) or severe (n = 1) hyperglycemia, used as references. Results: Of four mildly hyperglycemic family-members, three were heterozygous and one, diagnosed in the adulthood, was homozygous for GCK-E372D. Two nondiabetic family members carried no mutations. Fasting glucose (p = 0.016) and HbA1c (p = 0.035) correlated with the number of mutated alleles (0–2). In-silico predicted pathogenicity was not correlated with the four mutations’ severity. At MD, GCK-E372D conferred protein structure flexibility intermediate between mild and severe GCK mutations. Conclusions: We present the third case of homozygous GCK mutations associated with mild hyperglycemia, rather than PNDM. Our in-silico analyses support previous evidences suggesting that protein stability plays a role in determining clinical severity of GCK mutations

The influence of entrepreneurs’ immigrant status and time on the perceived likelihood of exporting

We contribute in this paper to the scant literature on the factors and conditions influencing the development of different perceptions of potential international opportunities for immigrant and native entrepreneurs in the pre-internationalization phase. Specifically, we investigate what factors influence the perceived likelihood entrepreneurs have of exporting. Building on entrepreneurial intentions and opportunity-based entrepreneurial processes, we propose a cognitive account of perceived likelihood of exporting based on entrepreneurs’ perceptions of the desirability and feasibility of export opportunities. We investigate how the immigrant status (i.e., individual characteristics) and time (i.e., contextual factors) influence the relationship between the desirability and feasibility of exporting, and entrepreneurs’ perceived likelihood of exporting. We employ an experimental design on a matched-pair sample of 108 native and immigrant entrepreneurs in domestic technology-based firms. The results are a unique account of the cognitive antecedents of the perceived likelihood of exporting under different temporal conditions, comparing immigrant and native entrepreneurs. We discuss theoretical and practical implications

Bulk viscosity in 2SC and CFL quark matter

The bulk viscosities of two color-superconducting phases, the color-flavor locked (CFL) phase and the 2SC phase, are computed and compared to the result for unpaired quark matter. In the case of the CFL phase, processes involving kaons and the superfluid mode give the largest contribution to the bulk viscosity since all fermionic modes are gapped. In the case of the 2SC phase, ungapped fermionic modes are present and the process u+d u+s provides the dominant contribution. In both cases, the bulk viscosity can become larger than that of the unpaired phase for sufficiently large temperatures (T >~ 1 MeV for CFL, T >~ 0.1 MeV for 2SC). Bulk viscosity (as well as shear viscosity) is important for the damping of r-modes in compact stars and thus can potentially be used as an indirect signal for the presence or absence of color-superconducting quark matter.Comment: 8 pages, 3 figures, contribution to the proceedings of QCD@Work 2007, Martina Franca (Italy

Planum: sperimentare contenuti e linguaggi sull’urbanism contemporaneo

Ripercorrere la storia della fondazione di Planum è utile per chiarire quali erano gli obiettivi originari del progetto, riguardo all’evoluzione della rivista e all’attuale e diversificato panorama di riviste scientifiche online. Il nome originario – Planum. The European Journal of Planning on line – restituiva la “mission” culturale del progetto: fondare una rivista web e una piattaforma digitale che fossero il luogo virtuale di scambio delle diverse culture nazionali europee dell’urbanistica e del planning. È interessante che il “progetto Planum” non nasca come estensione di una rivista cartacea o di una testata maggiore, oppure per utilizzare le potenzialità del web a seguito della crisi dell’editoria: alla base vi è invece un progetto culturale dove il web, inteso come “piazza virtuale”, facilmente accessibile, era considerato lo strumento più idoneo alla sua realizzazione. Il nuovo nome, incentrato sulla parola urbanism riflette l’orientamento e il campo di lavoro attuale: presentare riflessioni e materiali che uniscano gli approcci e le pratiche legate al “design” (urban design; city design, etc.) con quelle del “planning” (urban, regional, spatial, etc.), in relazione a processi e a contesti insediativi che pongono problemi nuovi e urgenti

Mobile learning for the integration of groups that risk being marginalized

Social inclusion and cohesion are two of the objectives that the European Union has very often proclaimed in its documents, in the past ten years. At the same time, community policies have emphasized the role that ICTs can play to encourage and support participation and integration opportunities of disadvantaged citizens. Within this context, the ENSEMBLE project, presented here, aims at developing a strategy of use of ICTs to promote socio-cultural integration of immigrant citizens by using technologies such as MP3 players and mobile phones, and by experimenting instructional methods and communication models suitable for the adopted instruments. The present paper focuses particularly on the educational communication design of MMS messages