Investigating the structure of the autism-spectrum quotient using Mokken scaling

Traits similar to those shown in autism spectrum condition (ASC) are apparent in relatives of individuals with ASC, and in the general population without necessarily meeting diagnostic criteria for an ASC. We assess whether the Autism-Spectrum Quotient (AQ), a self-report measure, has hierarchical properties using Mokken scaling. Hierarchical scales allow the presence of a latent trait to be identified by discovering whether and how many specific items form an ordered array along it. Data were collected from 2 groups: (1) people with ASC (n = 449: 240 males, 209 females, M age 35.4 years, SD = 12.8) and (2) university students (n = 943: 465 males, 475 females, M age = 23.0 years, SD = 8.4). A single Mokken scale was obtained in the data from university students and 3 scales were obtained in the data from people with ASC. The scales all showed moderate Mokken scaling properties with the single scale obtained from university students showing weak invariant item ordering and 2 of the scales from people with ASC showing weak invariant item ordering. The AQ formed reliable Mokken scales. There was a large overlap between the scale from the university student sample and the sample with ASC, with the first scale, relating to social interaction, being almost identical. The present study confirms the utility of the AQ as a single instrument that can dimensionalize autistic traits in both university student and clinical samples of ASC, and confirms that items of the AQ are consistently ordered relative to one another

What do we mean by 'older adults' persistent pain self-management'? A concept analysis.

Background: No standard definition exists for the concept “persistent pain self-management” or how it should be defined in relation to older adults. Poorly defined concepts can result in misunderstandings in the clinical setting and can hinder research through difficulties identifying or measuring the concept. Objective: To ascertain attributes, referents, antecedents, and consequences of the concept older adults' persistent pain self-management and develop a theoretical definition. Design: Rodgers evolutionary model of concept analysis was used to systematically analyze articles from the academic and grey literature (N = 45). Data were extracted using standardized extraction forms and analyzed using thematic analysis. Findings: This concept was discussed in three ways: as an intervention, in reference to everyday behaviors, and as an outcome. Five defining attributes were identified: multidimensional process, personal development, active individuals, symptom response, and symptom control. Patients' perceived need and ability to manage pain with support from others is necessary for pain self-management to occur. Numerous physical, psychological, and social health consequences were identified. A theoretical definition is discussed. Conclusions: Our findings have clarified existing use and understanding regarding the concept of older adults' persistent pain self-management. We have identified three areas for future development: refinement of the attributes of this concept within the context of older adults, an exploration of how providers can overcome difficulties supporting older adults' persistent pain self-management, and a clarification of the overall theoretical framework of older adults' persistent pain self-management

Anticholinergic burden (prognostic factor) for prediction of dementia or cognitive decline in older adults with no known cognitive syndrome

Peer reviewedPublisher PD

708-4 Can the Results of SPECT Scintigraphy Safely Guide Clinical Management of Patients with Active CAD?

Myocardial perfusion scintigraphy is increasingly used to categorize risk in pts with known or a high likelihood of CAD. This strategy will only be cost-effective if: 1) cardiologists will largely reserve further testing such as angiography (angio) to high-risk subsets; and 2) it is shown that less severe patterns of abnormality can be safely managed medically. We previously reported angio rates after all 4, 162 SPECT studies (excluding those with angio within 90 days beforeSPECT) at our cardiology practice-based nuclear lab: 4% (69/1663) in pts with fixed defects only and/or no ischemia; 60% (682/1141) in pts with high-risk ischemia (2 of multivessel or LAD distribution ischemia and abnormal lung uptake); and 9% (123/1352) for pts with mild-moderate ischemia. In this study, we determined outcome of the 1229 pts with mild-moderate ischemia who did not have referral for angio. Patient characteristics: mean age 65 yrs; known CAD=1061 (86%); prior CABG=344; prior MI=575; prior PTCA=674; angina=592. Twenty-eight (2%) pts were lost to follow-up. The remainder were followed for a mean of 18 months. There were 22 hard events (MI=15; cardiac death=71) (1.8%) and 54 pts required PTCA or CABG (total event rate 6.3%). Mean time to any event was 13.2 months from SPECT. Freedom from hard events at 1 yr was 99% and at 2 yrs 97%. Freedom from any event was 97% at 1 yr and 91% at 2 yrs.Conclusions1) SPECT can be a highly effective strategy for selecting pts for angio; 2) Even in a self-referral setting angio is largely reserved for pts with high-risk scans; and 3) Pts with mildly-moderately abnormal scans can be treated safely with medical therapy and close follow-u

Somatic retrotransposition in human cancer revealed by whole-genome and exome sequencing

Retrotransposons constitute a major source of genetic variation, and somatic retrotransposon insertions have been reported in cancer. Here, we applied TranspoSeq, a computational framework that identifies retrotransposon insertions from sequencing data, to whole genomes from 200 tumor/normal pairs across 11 tumor types as part of The Cancer Genome Atlas (TCGA) Pan-Cancer Project. In addition to novel germline polymorphisms, we find 810 somatic retrotransposon insertions primarily in lung squamous, head and neck, colorectal, and endometrial carcinomas. Many somatic retrotransposon insertions occur in known cancer genes. We find that high somatic retrotransposition rates in tumors are associated with high rates of genomic rearrangement and somatic mutation. Finally, we developed TranspoSeq-Exome to interrogate an additional 767 tumor samples with hybrid-capture exome data and discovered 35 novel somatic retrotransposon insertions into exonic regions, including an insertion into an exon of the PTEN tumor suppressor gene. The results of this large-scale, comprehensive analysis of retrotransposon movement across tumor types suggest that somatic retrotransposon insertions may represent an important class of structural variation in cancer.National Cancer Institute (U.S.) (grant U24CA143867)National Cancer Institute (U.S.) (grant U24CA126546

Cyberinfrastructure resources enabling creation of the loblolly pine reference transcriptome

This paper was presented at XSEDE 15 conference.Today's genomics technologies generate more sequence data than ever before possible, and at substantially lower costs, serving researchers across biological disciplines in transformative ways. Building transcriptome assemblies from RNA sequencing reads is one application of next-generation sequencing (NGS) that has held a central role in biological discovery in both model and non- model organisms, with and without whole genome sequence references. A major limitation in effective building of transcriptome references is no longer the sequencing data generation itself, but the computing infrastructure and expertise needed to assemble, analyze and manage the data. Here we describe a currently available resource dedicated to achieving such goals, and its use for extensive RNA assembly of up to 1.3 billion reads representing the massive transcriptome of loblolly pine, using four major assembly software installations. The Mason cluster, an XSEDE second tier resource at Indiana University, provides the necessary fast CPU cycles, large memory, and high I/O throughput for conducting large-scale genomics research. The National Center for Genome Analysis Support, or NCGAS, provides technical support in using HPC systems, bioinformatic support for determining the appropriate method to analyze a given dataset, and practical assistance in running computations. We demonstrate that a sufficient supercomputing resource and good workflow design are elements that are essential to large eukaryotic genomics and transcriptomics projects such as the complex transcriptome of loblolly pine, gene expression data that inform annotation and functional interpretation of the largest genome sequence reference to date.This work was supported in part by USDA NIFA grant 2011- 67009-30030, PineRefSeq, led by the University of California, Davis, and NCGAS funded by NSF under award No. 1062432

Anticholinergic burden measures and older people's falls risk : a systematic prognostic review.

Funding The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work was supported by the Dunhill Medical Trust (grant number RPGF1806/66). Acknowledgements We thank Ms Kaisa Yrjana and Ms Mitrysha Kishor greatly for their help during the study search and screening phases of this review.Peer reviewedPublisher PD