Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset

About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2–c.378+1G>T) in the first patient and a nonsense mutation (DSG2–p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases.     

Characterization of microdevices for ferrous chloride separation for biosensing applications

Ferrous chloride has a variety of applications such as a reducing flocculation agent in waste-water treatment, especially for wastes containing chromate, in the laboratory synthesis of iron complexes and it is employed as a reducing agent in many organic syntheses. The device used for experiment was fabricated on the silicon wafer as support for two electrodes in a SU8 polymer microchannel with an inlet, for the injection of aqueous solution of ferrous chloride, and two outlets, for the two by-products of separated solutions. The various parameters of the device were measured by White Light Interferometer (WLI) and Scanning Electron Microscopy (SEM). The magnetic field created by applying different types of potential between two electrodes determined ferrous chloride to separate in ferrous oxide and chlorine (in gaseous form). If a protein is added in this solution we have the possibility to immobilize the protein on the iron particles and on the channel area. The electrical results were collected using a semiconductor system analyzer Keithley and were examined subsequently. The Fe complexes deposited on the electrodes were characterized by XRD analyses.     

Web-service based architecture to support SCM context-awareness and interoperability

Integration of Web-Services and “smart objects” in supply chain manufacturing systems (SCM) enables enterprise innovation and competitiveness in a globalized economy. The paper proposes a web-service based architecture for SCM that enables enterprises to develop context-awareness and to achieve interoperability at data, services, processes and business levels using event based web service notifications. The architecture is analyzed and implemented following the case study of an enterprise in the automotive industry.     

Decomposing regional business change at plant level in Italy: A novel spatial shift‐share approach

In this paper, spatial shift‐share decomposition is analysed when applied to Italian data on regional business change at plant level, over the period 2004–2009. A new type of spatial decomposition, which looks more effectively at neighbourhood influence, is introduced here. Notable results emerge from the empirical investigation. First, it can be seen that the spatial level of aggregation greatly affects results. Second, evidence of neighbourhood advantage in the Southern NUTS 3 regions is found, together with opposite results for the Central‐Northern NUTS 3 regions. Finally, evidence of positive industrial mix effects is only found in Central‐Northern Italy.     

Citrus flavonoids: Molecular structure,biological activity and nutritional properties: A review

Epidemiological studies have shown an inverse relationship between dietary flavonoid intakes and cardiovascular diseases. Citrus fruits are the main winter fruits consumed in the Mediterranean diet, so they are the main source of dietary flavonoids. The possible beneficial effects are due, not only to the high amounts of vitamins and minerals, but also to the antioxidant properties of their flavonoids. Dietary flavonoids may help to supplement the body antioxidant defences against free radicals. These compounds’ possible beneficial effects are due to their antioxidant activity, which is related to the development of atherosclerosis and cancer, and to anti-inflammatory and antimicrobial activity. The present review summarizes the existing bibliography on biological and pharmacological studies of Citrus flavonoids, both in vitro and in vivo.     

The antioxidant capacity of red wine in relationship with its polyphenolic constituents

The “antioxidant power” of a food is an expression of its capability both to defend the human organism from the action of the free radicals and to prevent degenerative disorders deriving from persistent oxidative stress. Purpose of this study is to analyse the antioxidant capacity (measured by means of the crocin bleaching method) of several samples of Sicilian red wines and to evaluate their dependency on the vintage and on the grape variety. Finally, the correlation between the single flavonoids compounds and the antioxidant capacity has been investigated. The analyses show that the antioxidant properties of red wine appear to be unequally influenced by the vintages for the different cultivars and that the correlation between antioxidant capacity and the total phenolic contents is weak. The latter can be explained by the fact that the wine’s antioxidant properties are influenced differently by each polyphenolic molecule.     

Gold(I)‐Catalysed Cyclisation of Alkynoic Acids: Towards an Efficient and Eco‐Friendly Synthesis of γ‐, δ‐ and ϵ‐Lactones

The improved synthesis of γ‐, δ‐ and ϵ‐lactones using a dinuclear N‐heterocyclic carbene (NHC)‐gold(I) catalyst is reported. This solvent‐free process provides access to γ‐ and δ‐lactones in high regio‐ and stereoselectivity. Reactions were performed at low catalyst loadings and without the need for any additives. The use of a digold pre‐catalyst provides a new synthetic route to functionalised ϵ‐lactones, poorly accessible using previous methodologies.