Numerical and structural aberrations in advanced neuroblastoma tumours by CGH analysis; survival correlates with chromosome 17 status

Rapid tumour progression in neuroblastoma is associated with MYCN amplification, deletion of the short arm of chromosome 1 and gain of 17q. However, patients with advanced disease without MYCN amplification and/or 1p deletion have a very poor outcome too, which suggests other genetic defects may predict an unfavourable prognosis. We employed CGH to study 22 tumours of patients at stages 3 and 4 over one year of age (6 and 16 cases respectively). Patients were divided in groups (A) long-term survivors and (B) short-term survivors. CGH showed a total of 226 chromosome imbalances (110 in group A and 116 in group B). The neuroblastoma cells of long-term survivors showed a preponderance of numerical aberrations (54%vs 43%); particularly gains of entire chromosomes 1 (P< 0.03), 7 (P< 0.04) and 19 (P< 0.05). An extra copy of 17 was detected in 6/8 (75%) samples of group A and only 1/14 (7%) samples of group B (P< 0.002). Conversely, tumours of patients who died from disease progression displayed a higher frequency of structural abnormalities (43%vs 35%), including loss of 1p, 9p, 11q, 15q and 18q and gain of 12q, although the difference was not significant (P= 0.24). Unbalanced gain of 17q was detected in 8/14 (57%) tumours of group B and only 1/8 (13%) tumours of group A (P< 0.05). The peculiar genetic difference observed in the tumours of long and short-term survivors may have prognostic relevance. © 2000 Cancer Research Campaig

Geotechnical and hydrological characterization of hillslope deposits for regional landslide prediction modeling

We attempt a characterization of the geotechnical and hydrological properties of hillslope deposits, with the final aim of providing reliable data to distributed catchment-scale numerical models for shallow landslide initiation. The analysis is based on a dataset built up by means of both field tests and laboratory experiments over 100 sites across Tuscany (Italy). The first specific goal is to determine the ranges of variation of the geotechnical and hydrological parameters that control shallow landslide-triggering mechanisms for the main soil classes. The parameters determined in the deposits are: grain size distribution, Atterberg limits, porosity, unit weight, in situ saturated hydraulic conductivity and shear strength parameters. In addition, mineral phases recognition via X-ray powder diffraction has been performed on the different soil types. The deposits mainly consist of well-sorted silty sands with low plastic behavior and extremely variable gravel and clay contents. Statistical analyses carried on these geotechnical and hydrological parameters highlighted that it is not possible to define a typical range of values only with relation to the main mapped lithologies, because soil characteristics are not simply dependent on the bedrock type from which the deposits originated. A second goal is to explore the relationship between soil type (in terms of grain size distribution) and selected morphometric parameters (slope angle, profile curvature, planar curvature and peak distance). The results show that the highest correlation between soil grain size classes and morphometric attributes is with slope curvature, both profile and planar

Detailed analysis of X chromosome inactivation in a 49,XXXXX pentasomy

<p>Abstract</p> <p>Background</p> <p>Pentasomy X (49,XXXXX) has been associated with a severe clinical condition, presumably resulting from failure or disruption of X chromosome inactivation. Here we report that some human X chromosomes from a patient with 49,XXXXX pentasomy were functionally active following isolation in inter-specific (human-rodent) cell hybrids. A comparison with cytogenetic and molecular findings provided evidence that more than one active X chromosome was likely to be present in the cells of this patient, accounting for her abnormal phenotype.</p> <p>Results</p> <p>5-bromodeoxyuridine (BrdU)-pulsed cultures showed different patterns among late replicating X chromosomes suggesting that their replication was asynchronic and likely to result in irregular inactivation. Genotyping of the proband and her mother identified four maternal and one paternal X chromosomes in the proband. It also identified the paternal X chromosome haplotype (P), indicating that origin of this X pentasomy resulted from two maternal, meiotic non-disjunctions. Analysis of the <it>HUMANDREC </it>region of the androgen receptor (<it>AR</it>) gene in the patient's mother showed a skewed inactivation pattern, while a similar analysis in the proband showed an active paternal X chromosome and preferentially inactivated X chromosomes carrying the 173 <it>AR </it>allele. Analyses of 33 cell hybrid cell lines selected in medium containing hypoxanthine, aminopterin and thymidine (HAT) allowed for the identification of three maternal X haplotypes (M1, M2 and MR) and showed that X chromosomes with the M1, M2 and P haplotypes were functionally active. In 27 cell hybrids in which more than one X haplotype were detected, analysis of X inactivation patterns provided evidence of preferential inactivation.</p> <p>Conclusion</p> <p>Our findings indicated that 12% of X chromosomes with the M1 haplotype, 43.5% of X chromosomes with the M2 haplotype, and 100% of the paternal X chromosome (with the P haplotype) were likely to be functionally active in the proband's cells, a finding indicating that disruption of X inactivation was associated to her severe phenotype.</p

Binding the Smart City Human-Digital System with Communicative Processes

This chapter will explore the dynamics of power underpinning ethical issues within smart cities via a new paradigm derived from Systems Theory. The smart city is an expression of technology as a socio-technical system. The vision of the smart city contains a deep fusion of many different technical systems into a single integrated “ambient intelligence”. ETICA Project, 2010, p. 102). Citizens of the smart city will not experience a succession of different technologies, but a single intelligent and responsive environment through which they move. Analysis of such an environment requires a framework which transcends traditional ontologically-based models in order to accommodate this deep fusion. This chapter will outline a framework based on Latour’s Actor-Network Theory and Luhmann’s treatment of society as an autopoetic system. We shall use this framework to map the influence of relevant factors on ethical issues, irrespective of their composition or type. For example, under this treatment, both human praxis and technical design can be viewed as comparable tools of domination. This chapter will provide a framework for the analysis of relations between any elements of the smart city, ranging from top-level urban management processes down to individual device operations. While we will illustrate the use of this schema through examination of ethical issues arising from power dynamics within the smart city, it is intended that this example will demonstrate the wider utility of the model in general

Lieviti e disordini intestinali

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Requirements and design patterns for adaptive, autonomous, and context-aware digital twins in industry 4.0 digital factories

Digital factories are poised to achieve unseen levels of resiliency and flexibility, facing increasingly demanding requirements by customers and market conditions. Digital twins are one of the building blocks fueling this vision. They provide a software counterpart for industrial assets enabling control, simulation, analytics and “servitization” functionalities. To effectively fulfill their tasks, digital twins need to embed adaptive, autonomous, and context-awareness functionalities. In this work, we propose an organic vision of digital twin design and implementation with the goal of clearly identifying the primary steps towards this goal. First, we detail how current requirements for digital twins have to be enriched for supporting adaptivity, autonomy, and context-awareness. Second, we propose a set of reusable design patterns mostly popularized in the field of micro-services allowing engineers to meet these new demanding requirements while keeping complexity and management costs under control. Finally, we present our working prototype based on the identified design patterns and implemented with orchestrated micro-services, demonstrating the feasibility of our solution and quantifying its networking and computational overhead

Ospedalizzazione per interventi su articolazioni maggiori e reimpianti di arti inferiori

L\u2019indicatore TD, elaborato per regione di residenza e per genere, considera soltanto le dimissioni che hanno generato il DRG 209 - Interventi su articolazioni maggiori e reimpianti di arti inferiori. Il TD analizzato per un singolo DRG chirurgico, sufficientemente omogeneo riguardo le condizioni nosologiche ed il tipo di trattamento effettuato durante il ricovero, \ue8 in grado di fornire una rappresentazione abbastanza efficace dell\u2019epidemiologia, della propensione e del bisogno di ricovero ospedaliero soddisfatto per determinate patologie. La variabilit\ue0 geografica pu\uf2 fornire indirettamente anche indicazioni di massima sulla dimensione dell\u2019offerta e sulle caratteristiche del servizio reso nelle diverse realt\ue0 regionali, in particolare quando si evidenziano situazioni di possibile sovra o sotto trattamento delle patologie correlate al DRG chirurgico in esame. A tale riguardo \ue8 importante richiamare l\u2019attenzione sui fattori che determinano l\u2019accesso e l\u2019erogazione delle prestazioni, tra i quali assume un ruolo decisivo l\u2019operato dei medici e la capacit\ue0 di scelta dei pazienti. \uc8, infatti, noto che le indicazioni all\u2019intervento chirurgico non sono sempre definite univocamente dalle societ\ue0 scientifiche e/o non univocamente recepite dai professionisti e che l\u2019asimmetria informativa tra medico e paziente non sempre consente a quest\u2019ultimo di valutare adeguatamente l\u2019appropriatezza del percorso assistenziale proposto