Origin and distribution of the BRCA2-8765delAG mutation in breast cancer

Background: The BRCA2-8765delAG mutation was firstly described in breast cancer families from French-Canadian and Jewish-Yemenite populations; it was then reported as a founder mutation in Sardinian families. We evaluated both the prevalence of the BRCA2-8765delAG variant in Sardinia and the putative existence of a common ancestral origin through a haplotype analysis of breast cancer family members carrying such a mutation. Methods: Eight polymorphic microsatellite markers (D13S1250, centromeric, to D13S267, telomeric) spanning the BRCA2 gene locus were used for the haplotype analysis. Screening for the 8765delAG mutation was performed by PCR-based amplification of BRCA2-exon 20, followed by automated sequencing. Results: Among families with high recurrence of breast cancer (≥ 3 cases in first-degree relatives), those from North Sardinia shared the same haplotype whereas the families from French Canadian and Jewish-Yemenite populations presented distinct genetic assets at the BRCA2 locus. Screening for the BRCA2-8765delAG variant among unselected and consecutively-collected breast cancer patients originating from the entire Sardinia revealed that such a mutation is present in the northern part of the island only [9/648 (1.4%) among cases from North Sardinia versus 0/493 among cases from South Sardinia]. Conclusion: The BRCA2-8765delAG has an independent origin in geographically and ethnically distinct populations, acting as a founder mutation in North but not in South Sardinia. Since BRCA2- 8765delAG occurs within a triplet repeat sequence of AGAGAG, our study further confirmed the existence of a mutational hot-spot at this genomic position (additional genetic factors within each single population might be involved in generating such a mutation)

Evaluation of anatomical and histopathological changes in target organs of cattle slaughtered in Sardinia as a result of the illegal use of growth hormones. Preliminary results

Within the bovine specie, illegal use of anabolic agents can be grouped into four categories: beta-agonists, thyrostatics, glucocorticoids, sexual steroids. These substances, further their anabolic effect, cause morphological changes in target organs which can be evidenced by anatomical and histopathological testing. Such investigations are extremely important to screen and to detect in advance groups of animals in risk-breeding

GC-MS Metabolomics and Antifungal Characteristics of Autochthonous Lactobacillus Strains

Lactobacillus strains with the potential of protecting fresh dairy products from spoilage were studied. Metabolism and antifungal activity of different L. plantarum, L. brevis, and L. sakei strains, isolated from Sardinian dairy and meat products, were assessed. The metabolite fingerprint of each strain was obtained by GC-MS and data submitted to multivariate statistical analysis. The discriminant analysis correctly classified samples to the Lactobacillus species and indicated that, with respect to the other species, L. plantarum had higher levels of organic acids, while L. brevis and L. sakei showed higher levels of sugars than L. plantarum. Partial Least Square (PLS) regression correlated the GC-MS metabolites to the antifungal activity (p Lactobacillus strains and indicated that organic acids and oleamide are positively related with this ability. Some of the metabolites identified in this study have been reported to possess health promoting proprieties. These overall results suggest that the GC-MS-based metabolomic approach is a useful tool for the characterization of Lactobacillus strains as biopreservatives

Analysis of Social Interaction in Music Performance With Score-independent Audio Features

(Abstract to follow

Continuity between Stressful Experiences and Delusion Content in Adolescents with Psychotic Disorders – A Pilot Study

Background: Delusions are usually considered core symptoms of schizophrenia, but they are in fact associated with a wide range of psychiatric disorders. The content of a delusion is often related to stressful life experiences that preceded the delusion. Objective: The aim of this study is to detect whether there is a link—specifically, a thematic link—between past experiences and delusion content that connects the two events via thematic analogy. Method: The sample population evaluated for this study consisted of 16 consecutive patients with delusions between the ages of 9.9 and 16.5 years. All patients were experiencing their first psychotic episodes and were not taking any medications. Data were obtained from transcribed clinical sessions. Results: The data suggested the presence of a thematic link between previous experiences and the contents of delusions for 15 patients (93%). Humiliating events, including bullying, are more likely to be linked to persecutory delusions (p = .004). Conclusions: If a thematic link between past experiences and delusion content does exist, this may provide a means of greater psychotherapeutic understanding

An experimental and modeling combined approach in preparative Hydrophobic Interaction Chromatography

Chromatography is a technique widely used in the purification of biopharmaceuticals, and gener-ally consists of several chromatographic steps. In this work, Hydrophobic Interaction Chroma-tography (HIC) is investigated as a polishing step for the purification of therapeutic proteins. Ad-sorption mechanisms in hydrophobic interaction chromatography are still not completely clear and a limited amount of published data is available. In addition to new data on adsorption isotherms for some proteins (obtained both by high-throughput and frontal analysis method), and a comparison of different models proposed in the literature, two different approaches are compared in this work to investigate HIC. The predictive approach exploits an in-house code that simulates the behavior of the component in the column using the model parameters found from the fitting of experimental data. The estimation approach, on the other hand, exploits commercial software in which the model parameters are found by the fitting of a few experimental chromatograms. The two approaches are validated on some bind-elute runs: the predictive approach is very informative, but the experi-mental effort needed is high; the estimation approach is more effective, but the knowledge gained is lower. The second approach is also applied to an in-development industrial purification process and successfully resulted in predicting the behavior of the system, allowing for optimization with a reduction in the time and amount of sample needed

Development of freeze-drying cycle for a peptide-based drug in trays

Freeze-drying of a peptide solution is here presented, from the early identification of critical product temperature to the design of an appropriate cycle. Synergy between experimental characterisation techniques, mathematical modelling and process simulation has been implemented to develop a robust lyophilisation process and guarantee the removal of solvents impurities. Process has been carried out in bulk using a tray equipped with an anisotropic membrane, enabling unidirectional vapour flow