2,810 research outputs found

    Inter-relationships between ADHD, ODD and impulsivity dimensions in emerging adults revealed by network analysis: Extending the ‘trait impulsivity hypothesis’

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    Background The trait-impulsivity hypothesis posits impulsivity as the underlying substrate of Attention-deficit/hyperactivity disorder (ADHD) and Oppositional defiant disorder (ODD) symptom expressions. The current study applied network analysis to evaluate the inter-relationships of dimensions within ADHD (inattention and hyperactivity/impulsivity) and ODD (anger/irritable, vindictiveness, and argumentative/defiant behavior) with components of impulsivity as captured by the UPPS-P model (negative urgency, lack of premeditation, lack of perseverance, sensation seeking, and positive urgency). Method A total of 324 emerging adults (women = 246) from the general community completed questionnaires covering these dimensions. Results Our findings showed that the ADHD and ODD dimensions were associated differentially with different types of impulsivity, in their unique patterns of network connectivities, a possibility that has had little attention in the trait-impulsivity hypothesis literature. Conclusions This study is the first to tease out the unique associations of the ADHD and ODD dimensions with different types of impulsivity, and in that way provide new contributions to our understanding of the existing trait impulsivity theory. Our findings would be especially relevant to those interested in understanding how different dimensions of trait impulsivity underly the ADHD and ODD dimensions

    Successful Treatment of Postoperative External Biliary Fistula by Selective Nasobiliary Drainage

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    A 25-year old man presented with a high output external biliary fistula after an operation for a giant hydatid cyst of the liver. Endoscopic sphincterotomy was inadequate to close the fistula. A nasobiliary tube was selectively inserted into the leaking hepatic duct and bile was continuously aspirated. The fistula and the residual cavity healed completely. Details of the patients' management using this alternative technique, are discussed

    Model-based design of AM components to enable decentralized digital manufacturing systems

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    Additive manufacturing (AM) is a versatile technology that could add flexibility in manufacturing processes, whether implemented alone or along other technologies. This technology enables on-demand production and decentralized production networks, as production facilities can be located around the world to manufacture products closer to the final consumer (decentralized manufacturing). However, the wide adoption of additive manufacturing technologies is hindered by the lack of experience on its implementation, the lack of repeatability among different manufacturers and a lack of integrated production systems. The later, hinders the traceability and quality assurance of printed components and limits the understanding and data generation of the AM processes and parameters. In this article, a design strategy is proposed to integrate the different phases of the development process into a model-based design platform for decentralized manufacturing. This platform is aimed at facilitating data traceability and product repeatability among different AM machines. The strategy is illustrated with a case study where a car steering knuckle is manufactured in three different facilities in Sweden and Italy

    Functional DNA methylation signatures for autism spectrum disorder genomic risk loci: 16p11.2 deletions and CHD8 variants

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    Background: Autism spectrum disorder (ASD) is a common and etiologically heterogeneous neurodevelopmental disorder. Although many genetic causes have been identified (\u3e 200 ASD-risk genes), no single gene variant accounts for \u3e 1% of all ASD cases. A role for epigenetic mechanisms in ASD etiology is supported by the fact that many ASD-risk genes function as epigenetic regulators and evidence that epigenetic dysregulation can interrupt normal brain development. Gene-specific DNAm profiles have been shown to assist in the interpretation of variants of unknown significance. Therefore, we investigated the epigenome in patients with ASD or two of the most common genomic variants conferring increased risk for ASD. Genome-wide DNA methylation (DNAm) was assessed using the Illumina Infinium HumanMethylation450 and MethylationEPIC arrays in blood from individuals with ASD of heterogeneous, undefined etiology (n = 52), and individuals with 16p11.2 deletions (16p11.2del, n = 9) or pathogenic variants in the chromatin modifier CHD8 (CHD8 +/-, n = 7). Results: DNAm patterns did not clearly distinguish heterogeneous ASD cases from controls. However, the homogeneous genetically-defined 16p11.2del and CHD8 +/- subgroups each exhibited unique DNAm signatures that distinguished 16p11.2del or CHD8 +/- individuals from each other and from heterogeneous ASD and control groups with high sensitivity and specificity. These signatures also classified additional 16p11.2del (n = 9) and CHD8 (n = 13) variants as pathogenic or benign. Our findings that DNAm alterations in each signature target unique genes in relevant biological pathways including neural development support their functional relevance. Furthermore, genes identified in our CHD8 +/- DNAm signature in blood overlapped differentially expressed genes in CHD8 +/- human-induced pluripotent cell-derived neurons and cerebral organoids from independent studies. Conclusions: DNAm signatures can provide clinical utility complementary to next-generation sequencing in the interpretation of variants of unknown significance. Our study constitutes a novel approach for ASD risk-associated molecular classification that elucidates the vital cross-talk between genetics and epigenetics in the etiology of ASD

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

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    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

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

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    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

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

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    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
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