Preface: Semantic Web technologies for mobile and pervasive environments

Artificial Intelligence provides a rich set of methods and tools for implementing the Ambient Intelligence vision, i.e. to transform our environments into smart spaces assisting as with our everyday tasks in an intelligent, seamless and non-obtrusive way. Among them, Semantic Web technologies, such as RDF, ontology languages and others, can be used to address several of the challenges that come with this vision, mainly with respect to modelling, sharing and reasoning with context information. This thematic issue demonstrates their capabilities by presenting three different Semantic Web-based solutions for mobile and computing environments

2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype

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A Gas Leak Rate Measurement System for the ATLAS MUON BIS-Monitored Drift Tubes

A low-cost, reliable and precise system developed for the gas leak rate measurement of the BIS-Monitored Drift Tubes (MDTs) for the ATLAS Muon Spectrometer is presented. In order to meet the BIS-MDT mass production rate, a total number of 100 tubes are tested simultaneously in this setup. The pressure drop of each one of the MDT is measured, within a typical time interval of 48 hours, via a differential manometer comparing with the pressure of a gas tight reference tube. The precision of the method implemented is based on the system temperature homogeneity, with accuracy of ÄT = 0.3 oC. For this reason, two thermally isolated boxes are used testing 50 tubes each of them, to achieve high degree of temperature uniformity and stability. After measuring several thousands of the MDTs, the developed system is confirmed to be appropriate within the specifications for testing the MDTs during the mass production

Pseudomembranous Trigonitis: A Common but Underrecognized Urological Entity

Pseudomembranous trigonitis is the term used to describe squamous metaplastic changes of the bladder trigone, which affect nearly 40% of adult females. We present the characteristics of this underrecognized clinical entity and encourage further relevant research

Deregulation of methylation of transcribed-ultra conserved regions in colorectal cancer and their value for detection of adenomas and adenocarcinomas

Expression of Transcribed Ultraconserved Regions (T-UCRs) is often deregulated in cancer. The present study assesses the expression and methylation of three T-UCRs (Uc160, Uc283 and Uc346) in colorectal cancer (CRC) and explores the potential of T-UCR methylation in circulating DNA for the detection of adenomas and adenocarcinomas. Expression levels of Uc160, Uc283 and Uc346 were lower in neoplastic tissues from 64 CRC patients (statistically significant for Uc160, p<0.001), compared to non-malignant tissues, while methylation levels displayed the inverse pattern (p<0.001, p=0.001 and p=0.004 respectively). In colon cancer cell lines, overexpression of Uc160 and Uc346 led to increased proliferation and migration rates. Methylation levels of Uc160 in plasma of 50 CRC, 59 adenoma patients, 40 healthy subjects and 12 patients with colon inflammation or diverticulosis predicted the presence of CRC with 35% sensitivity and 89% specificity (p=0.016), while methylation levels of the combination of all three T-UCRs resulted in 45% sensitivity and 74.3% specificity (p=0.013). In conclusion, studied T-UCRs’ expression and methylation status are deregulated in CRC while Uc160 and Uc346 appear to have a complicated role in CRC progression. Moreover their methylation status appears a promising non-invasive screening test for CRC, provided that the sensitivity of the assay is improved

Health-related quality of life aspects of the ‘Periodontitis prevalence in ulcerative colitis and Crohn's disease’ (PPCC) cohort

Aim: To assess whether oral health problems affect disease-specific quality of life (QoL) of inflammatory bowel disease (IBD) patients, and vice versa, whether IBD affects oral-health-related QoL. Materials and Methods: Individuals reporting IBD and matched controls were surveyed on general anamnestic information, oral-health-related questions and the Oral Health Impact Profile (OHIP)-5. IBD patients were additionally surveyed on years since diagnosis, disease activity and severity as well as health-related QoL (Short Inflammatory Bowel Disease Questionnaire, sIBDQ). OHIP-5 and sIBDQ were defined as primary outcome parameters, and several predictors and confounders were used in adjusted univariable and multivariable regression analyses. Results: Answers from 1108 IBD patients and 3429 controls were analysed. Compared with controls, IBD patients reported significantly more frequently an oral impact on daily life and worse oral-health-related QoL, with Crohn's disease (CD) patients being more severely affected than ulcerative colitis (UC) patients. The diagnosis of UC and CD, having <20 teeth, severe periodontitis and stressful daily-life experience were associated with a higher prevalence of poor oral-health-related QoL. Among IBD patients, an impaired IBD-specific, health-related QoL was significantly associated with the diagnosis of CD and depression, IBD activity and severity, having <20 teeth, presence of oral lesions and stressful daily-life experience, while a longer time since diagnosis was significantly associated with an improved IBD-specific, health-related QoL. Conclusions: The results of the present study indicate, for the first time, that oral health problems are associated with an impairment of IBD-specific health-related QoL, and vice versa, IBD is associated with an impaired oral health-related QoL. This emphasizes the potential advantages of including dental professionals in the multi-disciplinary treatment teams of IBD patients

System Test of the ATLAS Muon Spectrometer in the H8 Beam at the CERN SPS

An extensive system test of the ATLAS muon spectrometer has been performed in the H8 beam line at the CERN SPS during the last four years. This spectrometer will use pressurized Monitored Drift Tube (MDT) chambers and Cathode Strip Chambers (CSC) for precision tracking, Resistive Plate Chambers (RPCs) for triggering in the barrel and Thin Gap Chambers (TGCs) for triggering in the end-cap region. The test set-up emulates one projective tower of the barrel (six MDT chambers and six RPCs) and one end-cap octant (six MDT chambers, A CSC and three TGCs). The barrel and end-cap stands have also been equipped with optical alignment systems, aiming at a relative positioning of the precision chambers in each tower to 30-40 micrometers. In addition to the performance of the detectors and the alignment scheme, many other systems aspects of the ATLAS muon spectrometer have been tested and validated with this setup, such as the mechanical detector integration and installation, the detector control system, the data acquisition, high level trigger software and off-line event reconstruction. Measurements with muon energies ranging from 20 to 300 GeV have allowed measuring the trigger and tracking performance of this set-up, in a configuration very similar to the final spectrometer. A special bunched muon beam with 25 ns bunch spacing, emulating the LHC bunch structure, has been used to study the timing resolution and bunch identification performance of the trigger chambers. The ATLAS first-level trigger chain has been operated with muon trigger signals for the first time

Being there: a preliminary study examining the role of presence in Internet Gaming Disorder

Internet Gaming Disorder (IGD) has been introduced as an emerging mental health condition requiring further study. Associations between IGD and gaming presence (i.e., absorption in the virtual environment) have been implied. The aim of the present study was twofold: (a) to evaluate the extent to which presence contributes to IGD severity and, (b) to examine longitudinal differences in IGD according to the initial level of presence experienced. The participants comprising 125 emerging adults aged 18 to 29 years completed either: (i) three face-to-face assessments (one month apart, over three months) or (ii) a cross-sectional, online assessment. IGD was assessed with the nine-item IGD Scale Short Form and presence was assessed using the Presence Questionnaire. Regression and latent growth modelling analyses were conducted. Findings demonstrated that the level of gaming presence related to IGD severity but not to linear change in severity over a three-month period. The study shows that emergent adults who play internet games may be at a high risk of IGD given a more salient sense of being present within the gaming environment. Clinical implications considering prevention and intervention initiatives are discussed