38 research outputs found
ROCKIT: Roadmap for Conversational Interaction Technologies
ROCKIT is a strategic roadmapping action in the area of multimodal conversational interaction technologies funded as a support action by the EU during 2014 and 2015. We envisage a future in which human-human, human-machine, and human-environment communication are not hampered by differences in language capability, accessibility, or knowledge of the technology, and where security and privacy are built in. These future conversational interaction technologies will enable interaction, collaboration, creativity, and information access within a vast, dynamic, heterogeneous, and partly ephemeral information space. ROCKIT is developing a roadmap to achieve this vision, linking research and innovation activities, and connecting a broad range of stakeholders. In this paper we present the ROCKIT roadmapping process, together with five target scenarios, which we believe can form a basis for discussion and engagement at the ICMI workshop which can further progress the community roadmap
Proteome-wide identification of poly(ADP-ribose) binding proteins and poly(ADP-ribose)-associated protein complexes
Poly(ADP-ribose) (pADPr) is a polymer assembled from the enzymatic polymerization of the ADP-ribosyl moiety of NAD by poly(ADP-ribose) polymerases (PARPs). The dynamic turnover of pADPr within the cell is essential for a number of cellular processes including progression through the cell cycle, DNA repair and the maintenance of genomic integrity, and apoptosis. In spite of the considerable advances in the knowledge of the physiological conditions modulated by poly(ADP-ribosyl)ation reactions, and notwithstanding the fact that pADPr can play a role of mediator in a wide spectrum of biological processes, few pADPr binding proteins have been identified so far. In this study, refined in silico prediction of pADPr binding proteins and large-scale mass spectrometry-based proteome analysis of pADPr binding proteins were used to establish a comprehensive repertoire of pADPr-associated proteins. Visualization and modeling of these pADPr-associated proteins in networks not only reflect the widespread involvement of poly(ADP-ribosyl)ation in several pathways but also identify protein targets that could shed new light on the regulatory functions of pADPr in normal physiological conditions as well as after exposure to genotoxic stimuli
ATM gene alterations in childhood acute lymphoblastic leukemias
Hereditary ATM gene mutations cause ataxia-telangiectasia, a pleiotropic disorder associated with a high incidence of lymphoid malignancies. Acquired ATM alterations have been described in sporadic lymphoproliferative disorder suggesting that the ATM gene contributes to lymphomagenesis. To assess the prevalence of genomic ATM alterations in childhood acute lymphoblastic leukemias (ALL), we explored a series of 57 sporadic ALL cases (26 B-precursor ALL and 31 T-ALL) using DHPLC (Denaturing High-Performance Liquid Chromatography). We identified 28 distinct genomic ATM alterations in 14 patients (25%). Ten of them were scored as probably biologically significant and appear to be associated with a high risk of relapse (P<0.01). Six alterations of potential biological significance were observed in 5 cases of B-precursor ALL (19%), while 5 were found in 3 cases of T-ALL (10%). In two cases of B-precursor ALL, the ATM alterations were found in the germline, indicating an ATM carrier status. We report here the high prevalence of genomic ATM alterations in childhood ALL. Our observations lend further support to the postulated contribution of ATM in lymphomagenesis
ATM promoter analysis in childhood lymphoid malignancies: a brief communication
ATM promoter hypermethylation has been recently reported in adult carcinomas, but no information is available concerning the methylation status of ATM gene promoter in childhood B-precursor acute lymphoblastic leukaemia (ALL). Furthermore, involvement of somatic ATM promoter mutations in cancer is not known. We report a complete ATM gene promoter analysis in 74 childhood lymphoid malignancies
ATM alterations in childhood non-Hodgkin lymphoma
ATM gene alterations and impaired ATM protein expression have been described in various adult lymphoproliferative malignancies, suggesting that ATM contributes to lymphomagenesis. The present study investigated the prevalence of ATM gene and ATM protein expression alterations in sporadic childhood non-Hodgkin lymphoma (NHL). Twenty-seven cases of NHL were screened for ATM mutations by denaturing high-performance liquid chromatography (DHPLC). Direct and indirect criteria, including in silico tools, were used to classify the gene alterations. The methylation status of the ATM promoter CpG island was determined in 25 samples; ATM protein expression was assessed by Western blot in 9 lymphomas. ATM alterations were detected in 12 NHLs (44%). Ten different heterozygous base substitutions were identified in 10 NHLs (37%). Five samples (19%) were found to harbor a gene alteration considered to be a mutation or a rare variant potentially pathogenic. In one case, an ATM mutation was found in the germline. Four NHLs (44%) showed reduced or absent ATM protein expression. Except for one sample, no definite genetic or epigenetic alteration was identified to account for impaired ATM protein expression. These observations document a high prevalence of ATM gene and protein expression alterations, suggesting that ATM is involved in childhood NHL
Three dimensional printed molds to obtain silicone hearts with congenital defects for pediatric Heart-Surgeon training
Objectives: Many types of congenital heart disease are amenable to surgical repair or palliation. The procedures are often challenging and require specific surgical training, with limited real-life exposure and often costly simulation options. Our objective was to create realistic and affordable 3D simulation models of the heart and vessels to improve training.
Methods: We created molded vessel models using several materials, in order to identify the material that best replicated human vascular tissue. This material was then used to make more vessels to train residents in cannulation procedures. Magnetic resonance imaging views of a 23 months-old patient with double-outlet right ventricle were segmented using free open-source software. Re-usable molds produced by 3D printing served to create a silicone model of the heart, with the same material as the vessels, which was used by a heart surgeon to simulate a Rastelli procedure.
Results: The best material was a soft elastic silicone (Shore A hardness 8). Training on the vessel models decreased the residents' procedural time and improved their grades on a performance rating scale. The surgeon evaluated the molded heart model as realistic and was able to perform the Rastelli procedure on it. Even if the valves were poorly represented, it was found to be useful for preintervention training.
Conclusions: By using free segmentation software, a relatively low-cost silicone, and a technique based on re-usable molds, the cost of obtaining heart models suitable for training in congenital-heart-defect surgery can be substantially decreased.</p