Osteonecrosis in genetic disorders

The avascular necrosis of bone is characterized by an abnormality of tissue that can occur whenever a disease process causes major cell stress. Some evidence supports a role for genetic factors in some avascular necrosis suggesting that gene mutations could play a role in the pathogenesis of osteonecrosis. These genetic studies provide hope that tools for identifying high risk patients will be available in the future

Genetic aspects of Paget’s disease of bone

Paget’s disease of bone (PDB) is a metabolic bone disease characterized by excessive bone resorption and formation due to increased osteoclasts activity. PDB mostly runs asymptomatically, although increased bone turnover can be present and in approximately 30% of patients bone abnormalities, such as bone pain and deformities, pathological fractures and deafness may occur. The existence of familial aggregation of PDB has been reported in numerous papers, describing the occurrence of disease in successive generations. It has been clearly established that PDB is genetically heterogeneous with several loci able to confer an increased susceptibility to develop this bone metabolic disorder. In particular, the PDB3 locus in chromosome 5q35-qter hosts the sequestosome1/ p62 (SQSTM1/p62) gene whose mutations account for most of the sporadic and familial forms of PDB reported in literature. SQSTM1/p62 gene encodes the SQSTM1/p62 protein, component of the NF-kB signaling pathway and mediating intracellular signaling from IL-1/TNF toward NF-kB, crucial for osteoclast differentiation and activity. A functional study suggests that the S Q S T M 1 mutation may predispose to PDB affecting the interaction between SQSTM1/p62 protein and a hitherto unidentified protein(s) modulating the bone turnover, but the underlying molecular mechanism need to be elucidated. However, independently from the knowledge of the functional aspects of S Q S T M 1 / p 6 2 mutation, the opportunity to perform germline mutational analysis in PDB patients may be helpful in detecting new genetic carriers in potentially familial forms of PDB and in studying the co-segregation of such DNA variants with the PDB phenotype. All together these studies could open new possibilities in the prevention and therapy of PDB and of other metabolic bone disorder

THE ARGOMARINE PROJECT: A LOW COST PLATFORM TO INTEGRATE DATA AND THE EXPLORATORY USE OF NEW TOOLS IN MONITORING OIL SPILL

One of the key aim of ARGOMARINE focuses on the development of a platform to integrate different maritime data (such as metoceanographic data, transport data, pollution data, etc). Major national organizations such as Navies and Coast Guards are aiming to integrate different types of information to define a maritime picture on a wide scale. This entails developing complex, expensive and classified "hubs" to collect, store, analyze and disseminate the maritime data. ARGOMARINE plans to develop a Marine Information System (MIS), a connected group of ICT subsystems performing data storage, mining and analysis, decision-support, as well as a web-GIS portal for the access and usage of the products and services released to System Managers and end-users. MIS will integrate remote sensing data, field experiment results, forecast models with tools for data storage and retrieval, data manipulation, analysis and presentation; all these features will be accessible through a common interface. Operationally, the following sub-systems have been confirmed for the MIS platform: SAR (Synthetic Aperture Radar) image processing, hyperspectral-thermal image analysis, mathematical simulation for forecast models, dynamic risk maps management, Autonomous Underwater Vehicle (AUV) management and data analysis, marine traffic monitoring through Automatic Identification System (AIS), Environmental Decision Support (EDS), and data mining/warehousing through operational and historical databases. Data integration of all data from these different systems is an innovative approach to maritime surveillance.JRC.G.4-Maritime affair

Patterns of genomic instability in gastric cancer: clinical implications and perspectives.

In gastric cancer (GC) the loss of genomic stability represents a key molecular step that occurs early in the carcinogenesis process and creates a permissive environment for the accumulation of genetic and epigenetic alterations in tumor suppressor genes and oncogenes. It is widely accepted that GC can follow at least two major genomic instability pathways, microsatellite instability (MSI) and chromosome instability (CIN). MSI is responsible for a well-defined subset of GCs. CIN represents a more common pathway comprising heterogeneous subsets of GC. In addition to MSI and CIN, the CpG islands methylator phenotype (CIMP) plays an important role in gastric carcinogenesis. CIMP may lead to the transcriptional silencing of various genes in gastric carcinogenesis. Intriguingly, more recently in addition to CpG island hypermethylation, a global DNA demethylation, that precedes genomic damage, has been observed in GC. Thus, epigenetic alterations may play a relevant role in gastric carcinogenesis as alternative mechanisms. Evidence suggests that although MSI, CIN and CIMP phenotypes can be distinguished from one another, there might be some degree of overlap. This review describes our current knowledge of the instability pathways in gastric carcinogenesis and the potential clinical applications for different forms of genomic instability in GC

A Novel Mutation in the Upstream Open Reading Frame of the CDKN1B Gene Causes a MEN4 Phenotype

PubMed ID: 23555276This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Mapping steps along a pathway to evaluate an experiential transdisciplinary approach to professional learning for ecological researchers

The workshop “Cammino di Feudozzo” is a step of a constant research of constructing new ways “to be a researcher” and communicating Ecology. The path of this experience focused on an experiential approach, fit to reinforce and develop plural, relational systemic perspectives, and on a participative observation good to bring out both a collective vision and personal experience. The workshop has been an opportunity for the participants to face different languages and narrations, ways of dialoguing; to welcome points of view of other people; to practice manifold glances. The workshop holistic approach invested also the participants’ attitudes towards social relationships. New perspectives, critical thoughts and visions about more participative processes were fostered by the exploration of physical and emotional experiences which revealed the limits of “being a scientist”. As a consequence the evaluation pathways and strategies required new objectives and a research approach, owing to the uniqueness of this workshop experiences. The fields of evaluation focused on the participants’ beliefs, posture towards the workshop experiences and mainly on the changes of ideas, attitudes, interests, ways of dialoguing and communicating. This paper refers about some general evaluation elements and comments, but also some remarkable evidences of self-evaluation by the participants. All the evaluation issues offer the chance to meditate about the doubts and perplexity of the “researchers under pressure” and their searching for innovative models, languages and narrations