The gustin (CA6) gene polymorphism, rs2274333 (A/G), as a mechanistic link between PROP tasting and fungiform taste papilla density and maintenance

Taste sensitivity to PROP varies greatly among individuals and is associated with polymorphisms in the bitter receptor gene TAS2R38, and with differences in fungiform papilla density on the anterior tongue surface. Recently we showed that the PROP non-taster phenotype is strongly associated with the G variant of polymorphism rs2274333 (A/G) of the gene that controls the salivary trophic factor, gustin. The aims of this study were 1) to investigate the role of gustin gene polymorphism rs2274333 (A/G), in PROP sensitivity and fungiform papilla density and morphology, and 2) to investigate the effect of this gustin gene polymorphism on cell proliferation and metabolic activity. Sixty-four subjects were genotyped for both genes by PCR techniques, their PROP sensitivity was assessed by scaling and threshold methods, and their fungiform papilla density, diameter and morphology were determined. In vitro experiments examined cell proliferation and metabolic activity, following treatment with saliva of individuals with and without the gustin gene mutation, and with isolated protein, in the two iso-forms. Gustin and TAS2R38 genotypes were associated with PROP threshold (p=0.0001 and p=0.0042), but bitterness intensity was mostly determined by TAS2R38 genotypes (p<0.000001). Fungiform papillae densities were associated with both genotypes (p<0.014) (with a stronger effect for gustin; p=0.0006), but papilla morphology was a function of gustin alone (p<0.0012). Treatment of isolated cells with saliva from individuals with the AA form of gustin or direct application of the active iso-form of gustin protein increased cell proliferation and metabolic activity (p<0.0135). These novel findings suggest that the rs2274333 polymorphism of the gustin gene affects PROP sensitivity by acting on fungiform papilla development and maintenance, and could provide the first mechanistic explanation for why PROP super-tasters are more responsive to a broad range of oral stimul

Tomografia computerizzata e patologia del mediastino. Considerazioni in 60 casi.

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Economic impact of remote monitoring on ordinary follow-up of implantable cardioverter defibrillators as compared with conventional in-hospital visits: a single-center prospective and randomized study

Few data are available on actual follow-up costs of remote monitoring (RM) of implantable defibrillators (ICD). Our study aimed at assessing current direct costs of 1-year ICD follow-up based on RM compared with conventional quarterly in-hospital follow-ups. Methods and results Patients (N=233) with indications for ICD were consecutively recruited and randomized at implant to be followed up for 1 year with standard quarterly inhospital visits or by RM with one in-hospital visit at 12 months, unless additional in-hospital visits were required due to specific patient conditions or RM alarms. Costs were calculated distinguishing between provider and patient costs, excluding RM device and service cost. The frequency of scheduled in-hospital visits was lower in the RM group than in the control arm. Follow-up required 47 min per patient/year in the RM arm versus 86 min in the control arm (p=0.03) for involved physicians, generating cost estimates for the provider of USD 45 and USD 83 per patient/- year, respectively. Costs for nurses were comparable. Overall, the costs associated with RM and standard follow-up were USD 103±27 and 154±21 per patient/year, respectively (p=0.01). RM was cost-saving for the patients: USD 97±121 per patient/year in the RM group versus 287± 160 per patient/year (p=0.0001). Conclusion The time spent by the hospital staff was significantly reduced in the RM group. If the costs for the device and service are not charged to patients or the provider, patients could save about USD 190 per patient/year while the hospital could save USD 51 per patient/year

Is BRCA1-5083del19, identified in breast cancer patients of Sicilian origin, a Calabrian founder mutation?

Various studies have been published in Italy regarding the different BRCA1 mutations, but only the BRCA1-5083del19 mutation is recurrent and specific to individuals of Italian descent with a founder effect on the Calabrian population. In our previous study, BRCA1-5083del19 mutation carriers were found in four index cases of 106 Sicilian patients selected for familial and/or hereditary breast/ovarian cancers. The high frequency rate of this mutation identified in the Sicilian population led us to perform haplotype analysis in all family carriers. Five highly polymorphic microsatellite markers were used (D17S1320, D17S932, D17S1323, D17S1326, D17S1325) to establish whether or not all these families had a common ancestor. This analysis showed that all mutation carriers of these families had a common allele. None of the non-carriers of the mutation or of the 50 healthy Sicilian controls showed this haplotype. This allelotype analysis highlighted the presence of a common allele (ancestor), thus suggesting the presence of a founder effect in the Sicilian population. Our results are in contrast with other studies but only the allelotype analysis of all the BRCA1-5083del19 mutation carriers of two neighboring regions of the south of Italy (Calabria and Sicily) will make it possible to identify the real ancestor of this mutation

Non Abelian Geometrical Tachyon

We investigate the dynamics of a pair of coincident D5 branes in the background of $k$ NS5 branes. It has been proposed by Kutasov that the system with a single probing D-brane moving radially in this background is dual to the tachyonic DBI action for a non-BPS Dp brane. We extend this proposal to the non-abelian case and find that the duality still holds provided one promotes the radial direction to a matrix valued field associated with a non-abelian geometric tachyon and a particular parametrization for the transverse scalar fields is chosen. The equations of motion of a pair of coincident D5 branes moving in the NS5 background are determined. Analytic and numerical solutions for the pair are found in certain simplified cases in which the U(2) symmetry is broken to $U(1) \times U(1)$ corresponding to a small transverse separation of the pair. For certain range of parameters these solutions describe periodic motion of the centre of mass of the pair 'bouncing off' a finite sized throat whose minimum size is limited by the D5 branes separation.Comment: 18 pages, 2 figures, PdfLatex: references added.accepted for publication in JHE

Clones Identification and Genetic Characterization of Garnacha Grapevine by Means of Different PCR-Derived Marker Systems

This study uses PCR-derived marker systems to investigate the extent and distribution of genetic variability of 53 Garnacha accessions coming from Italy, France and Spain. The samples studied include 28 Italian accessions (named Tocai rosso in Vicenza area; Alicante in Sicily and Elba island; Gamay perugino in Perugia province; Cannonau in Sardinia), 19 Spanish accessions of different types (named Garnacha tinta, Garnacha blanca, Garnacha peluda, Garnacha roja, Garnacha erguida, Garnacha roya) and 6 French accessions (named Grenache and Grenache noir). In order to verify the varietal identity of the samples, analyses based on 14 simple sequence repeat (SSR) loci were performed. The presence of an additional allele at ISV3 locus (151 bp) was found in four Tocai rosso accessions and in a Sardinian Cannonau clone, that are, incidentally, chimeras. In addition to microsatellite analysis, intravarietal variability study was performed using AFLP, SAMPL and M-AFLP molecular markers. AFLPs could discriminate among several Garnacha samples; SAMPLs allowed distinguishing few genotypes on the basis of their geographic origin, whereas M-AFLPs revealed plant-specific markers, differentiating all accessions. Italian samples showed the greatest variability among themselves, especially on the basis of their different provenance, while Spanish samples were the most similar, in spite of their morphological diversity

Geographic population structure analysis of worldwide human populations infers their biogeographical origins

The search for a method that utilizes biological information to predict humans’ place of origin has occupied scientists for millennia. Over the past four decades, scientists have employed genetic data in an effort to achieve this goal but with limited success. While biogeographical algorithms using next-generation sequencing data have achieved an accuracy of 700 km in Europe, they were inaccurate elsewhere. Here we describe the Geographic Population Structure (GPS) algorithm and demonstrate its accuracy with three data sets using 40,000–130,000 SNPs. GPS placed 83% of worldwide individuals in their country of origin. Applied to over 200 Sardinians villagers, GPS placed a quarter of them in their villages and most of the rest within 50 km of their villages. GPS’s accuracy and power to infer the biogeography of worldwide individuals down to their country or, in some cases, village, of origin, underscores the promise of admixture-based methods for biogeography and has ramifications for genetic ancestry testing

Local support for conservation is associated with perceptions of good governance, social impacts, and ecological effectiveness

Local support is important for the longevity of conservation initiatives. The literature suggests that perceptions of ecological effectiveness, social impacts, and good governance will influence levels of local support for conservation. This paper examines these relationships using data from a survey of small-scale fishermen in 11 marine protected areas from six countries in the Mediterranean Sea. The survey queried small-scale fishermen regarding perceptions and support for conservation. We constructed composite scores for three categories of perceptions-ecological effectiveness, social impacts, and good governance-and tested the relationship with levels of support using ordinal regression models. While all three factors were positively correlated with support for conservation, perceptions of good governance and social impacts were stronger predictors of increasing support. These findings suggest that employing good governance processes and managing social impacts may be more important than ecological effectiveness for maintaining local support for conservation