Identification of a novelABCD1 mutation in a family with Adrenoleukodistrophy

X-linked adrenoleukodistrophy (X-ALD) is the most common peroxisomal disorder. The disease is caused by muta>ons in the ABCD1 gene that encodes the peroxisomal membrane protein ALDP which is involved in the transmembrane transport of very long-chain faGy acids (VLCFA; >22). A defect in ALDP results in elevated levels of VLCFA in plasma and >ssues. The clinical spectrum in males with X-ALD ranges from isolated adrenocor>cal insufficiency and slowly progressive myelopathy to devasta>ng cerebral demyelina>on. The majority of heterozygous females will develop symptoms by the age of 60 years. We describe a family with six members carrying a novel heterozygous muta>on IVS4+2T>A (c.1393+2T>A) of the ABCD1 gene highligh>ng the wide range of phenotypic manifesta>ons of ALD

Constitutive modelling of skin ageing

The objective of this chapter is to review the main biomechanical and structural aspects associated with both intrinsic and extrinsic skin ageing, and to present potential research avenues to account for these effects in mathematical and computational models of the skin. This will be illustrated through recent work of the authors which provides a basis to those interested in developing mechanistic constitutive models capturing the mechanobiology of skin across the life course

Entry Mode Degree of Control, Firm Performance and Host Country Institutional Development: A Meta-Analysis

Among studies on performance outcomes of entry mode choices disagreement fueled by ambiguous research findings is apparent as regards whether the best per- formers are those firms that enter foreign countries with high or low entry mode degree of control. To solve this dilemma and test new hypotheses, the relationship between entry mode degree of control and firm performance is examined by meta- analyzing 133 studies (740,114 observations) covering entry mode choices from 1980 to 2010. We find that (a) overall high-control entry modes lead to higher per- formance, and (b) adopting high-control entry modes is particularly important for firms entering developing countries

Measuring the impact of a major project management educational program: The PMP case in Finmeccanica

This work aims at providing evidence of the impact of project management training programs. The research focuses on the impact of training effectiveness (higher learning) on the project managers' competencies (applied behaviors). Data have been collected within PMP-Project Management Program: a corporate training program developed and delivered through an academic-industrial collaboration between Politecnico di Milano University and the Education and Human Resources Development Department of Finmeccanica SpA. The program started in 2007 and has involved more than 2300 participants worldwide so far. The empirical analyses are based on an extensive survey conducted one year (rolling) after the training activities. The analysis of the relationships among the different variables provides evidence of the positive impact of training effectiveness on project management competencies. Moreover, the results show that two other variables, role-training matching and environment factors, have a strong conjoint effect, significantly increasing the impact of training on the project management competencies

Agrumi: erosione dentale e fluoro. Prima parte

Aim of the work. The aim of the study was to evaluate erosion effectiveness and fluoride concentration of pure citrus drinks and citrus soft drinks. Materials and methods. 7 pure citrus drinks and 12 citrus soft drinks were considered. In both cases, samples were analyzed for pH and fluoride concentration. The measurement of pH was carried out using a pH electrode connected with GLP 22 Crison® pHmeter. Fluoride concentration was carried out using a selective electrode Crison®. Results. The study demonstrated that both pure citrus drinks and citrus soft drinks show pH values ranged between 3.6 and 1.8 and thus lower respect to critical pHs which are expected for enamel and dentine demineralization and dissolution. Regarding fluoride, measurements carried out on citrus soft drinks, generally show an absence of this ion and, only in three cases, concentrations ranged between 0.1 and 0.16 ppm. Conclusion. Our data showed that erosive potential of pure citrus drinks and citrus soft drinks is capable of dissolving, in vitro, considerable amounts of enamel and dentine. In vivo, erosion is probably limited from many factors as calcium concentration and saliva buffering effect. Absence or very little concentration of ionic fluoride dissolved in tested drinks was observed