24 research outputs found

    Moderate-severe, chronic aphasia: An exploration of the changes in social roles

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    This study explored the changes in social roles following a stroke from the perspective of three people living with moderate-severe, chronic aphasia. The researchers conducted semi-structured interviews with two family members/friends of the people with aphasia. Next, the researchers transcribed the interviews and analyzed them for emergent themes. The researchers used these themes to develop questions and conduct semi-structured interviews with the participants with aphasia—using augmented communication strategies as necessary—to validate, or negate the findings. Although results confirm that a change in social roles is present, some discrepancies exist between family/friends and the people with aphasia

    Integrated genomic characterization of pancreatic ductal adenocarcinoma

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    We performed integrated genomic, transcriptomic, and proteomic profiling of 150 pancreatic ductal adenocarcinoma (PDAC) specimens, including samples with characteristic low neoplastic cellularity. Deep whole-exome sequencing revealed recurrent somatic mutations in KRAS, TP53, CDKN2A, SMAD4, RNF43, ARID1A, TGFβR2, GNAS, RREB1, and PBRM1. KRAS wild-type tumors harbored alterations in other oncogenic drivers, including GNAS, BRAF, CTNNB1, and additional RAS pathway genes. A subset of tumors harbored multiple KRAS mutations, with some showing evidence of biallelic mutations. Protein profiling identified a favorable prognosis subset with low epithelial-mesenchymal transition and high MTOR pathway scores. Associations of non-coding RNAs with tumor-specific mRNA subtypes were also identified. Our integrated multi-platform analysis reveals a complex molecular landscape of PDAC and provides a roadmap for precision medicine

    Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples

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    Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts

    Visual attention patterns for contextually rich images: Neurotypical adults in two age groups and adults with aphasia

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    Contextually rich images are an increasingly popular method of message representation for people with aphasia who rely on AAC. These images contain background content and human figures and are designed to represent messages in a holistic manner. Because of the holistic nature of contextually rich images, users must identify meaningful regions within these images to understand their meaning. Researchers recommend that human figures be engaged in context of images to assist with understanding the image meaning. Understanding how people visually attend to contextually rich images and how they respond to engagement cues can provide clinicians with an understanding of which types of images are most beneficial for their clients. This dissertation consisted of two studies each designed to examine visual attention patterns across contextually rich images. Study one compared the visual attention patterns of younger and older neurotypical adults across person-engaged and person-disengaged images. Study two compared the visual attention patterns of people with aphasia and their neurotypical controls across person-engaged and person-disengaged images. The researcher measured visual attention in percent of time fixated across areas of interest and domain relative score across areas of interest. The researcher uncovered no significant differences between younger and older neurotypical adults for visual attention patterns across person-engaged and person-disengaged contextually rich images. Both age groups exhibited a similar response to engagement in contextually rich images as they both increased their visual attention on the object of engagement of interest when viewing person-engaged images. Both adults with aphasia and their neurotypical controls visually attended to contextually rich images in a similar manner; however, significant differences were found in their response to engagement cues for domain relative score. Adults with aphasia and their neurotypical controls both demonstrated increased domain relative scores on objects of engagement when viewing person-engaged images as compared to person-disengaged images; however, people with aphasia exhibited significantly lower domain relative scores on objects of engagement than did their neurotypical controls when viewing person-engaged images
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