13 research outputs found

    Nikolskii spaces and the space BV characterized by the motions of IR"n

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    This research was supported in part by M.U.R.S.T. (40% "Problemi non lineari dell'analisi e delle applicazioni")Consiglio Nazionale delle Ricerche - Biblioteca Centrale -. P.le Aldo Moro, 7, Rome / CNR - Consiglio Nazionale delle RichercheSIGLEITItal

    Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers

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    AIMS: Phenotypic heterogeneity and incomplete penetrance are common in patients with hypertrophic cardiomyopathy (HCM). We aim to improve the understanding in genotype-phenotype correlations in HCM, particularly the contribution of an MYL2 founder mutation and risk factors to left ventricular hypertrophic remodelling. METHODS AND RESULTS: We analysed 14 HCM families of whom 38 family members share the MYL2 c.64G > A [p.(Glu22Lys)] mutation and a common founder haplotype. In this unique cohort, we investigated factors influencing phenotypic outcome in addition to the primary mutation. The mutation alone showed benign disease manifestation with low penetrance. The co-presence of additional risk factors for hypertrophy such as hypertension, obesity, or other sarcomeric gene mutation increased disease penetrance substantially and caused HCM in 89% of MYL2 mutation carriers (P = 0.0005). The most prominent risk factor was hypertension, observed in 71% of mutation carriers with HCM and an additional risk factor. CONCLUSION: The MYL2 mutation c.64G > A on its own is incapable of triggering clinical HCM in most carriers. However, the presence of an additional risk factor for hypertrophy, particularly hypertension, adds to the development of HCM. Early diagnosis of risk factors is important for early treatment of MYL2 mutation carriers and close monitoring should be guaranteed in this case. Our findings also suggest that the presence of hypertension or another risk factor for hypertrophy should not be an exclusion criterion for genetic studies

    Where did Roman masons get their material from? A preliminary DRIFTS/PCA investigation on mortar aggregates from X Regio buildings in the Veneto area (NE Italy) and their potential sources

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    In this work preliminary results are presented of an on-going investigation aiming to identify the possible material sources employed by ancient Romans in their building activity in the X Regio, the European region corresponding to present north-eastern Italy and Istria (Croatia and Slovenia). The 63 - 420 m fraction of the aggregate component recovered from eleven mortar fragments of buildings located in the Veneto area (in or close to Lio Piccolo, Vicenza and Padua) is studied by diffuse reflection infrared Fourier transform spectroscopy and compared through principal component analysis to samples collected from local potential sources of raw materials. In this regard, the investigated samples from Lio Piccolo present a distinctive complexity, being this site located within the Venice lagoon, an area that has since been undergoing dramatic changes both due to natural and anthropic causes. The Vicenza and Padua sites were considered for comparison sake because they are or were located close to two rivers, the Bacchiglione and the Brenta, that in ancient times flowed into the Venetian lagoon. As expected, from the exploratory investigation reported here, no firm conclusions can be obtained for the mortar samples collected in Lio Piccolo, whereas the likely provenance of the aggregate component of the samples from Vicenza and Padova from the Bacchiglione and the Brenta riverbeds, respectively, is confirmed
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