24 research outputs found

    Liberating Voices at the Harris-Hillman School

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    Harris-Hillman serves Nashville area students aged 3-21 who have multiple disabilities in the severe/profound range and are medically fragile. Most of these students require a great deal of care in meeting their daily self-help needs. Nursing support is provided for the administration of medications, tube feedings, respiratory therapy, and emergency care. The staff is dedicated to providing a comprehensive program through individualized educational plans, various therapies, and related arts. The goal is to provide the students with means to communicate and control various aspects of their environment. A panel of teachers and administrators from Harris-Hillman will discuss various ways in which they seek to liberate the voices of multiply disabled students. Panel members will include Robbie Hampton (Principal), Jennifer May (Consulting Teacher), and Beth Patterson (Teacher of the Year

    Genomic analysis of 6,000-year-old cultivated grain illuminates the domestication history of barley

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    The cereal grass barley was domesticated about 10,000 years ago in the Fertile Crescent and became a founder crop of Neolithic agriculture. Here, we report genome sequences of five 6,000-year-old barley grains excavated at a cave in the Judean Desert close to the Dead Sea. Comparison to whole exome sequence data from a diversity panel of present-day barley accessions revealed the close affinity of ancient samples to extant landraces from the Southern Levant and Egypt, consistent with a proposed origin of domesticated barley in the Upper Jordan Valley. Our findings suggest that barley landraces grown in present-day Israel in the past six millennia have not experienced a major lineage turnover although there is evidence for gene flow between cultivated and sympatric wild populations. We show the utility of ancient genomes from desiccated archaeobotanical remains in informing research into the origin, early domestication and subsequent migration of crop species

    AD51B in Familial Breast Cancer

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    Common variation on 14q24.1, close to RAD51B, has been associated with breast cancer: rs999737 and rs2588809 with the risk of female breast cancer and rs1314913 with the risk of male breast cancer. The aim of this study was to investigate the role of RAD51B variants in breast cancer predisposition, particularly in the context of familial breast cancer in Finland. We sequenced the coding region of RAD51B in 168 Finnish breast cancer patients from the Helsinki region for identification of possible recurrent founder mutations. In addition, we studied the known rs999737, rs2588809, and rs1314913 SNPs and RAD51B haplotypes in 44,791 breast cancer cases and 43,583 controls from 40 studies participating in the Breast Cancer Association Consortium (BCAC) that were genotyped on a custom chip (iCOGS). We identified one putatively pathogenic missense mutation c.541C>T among the Finnish cancer patients and subsequently genotyped the mutation in additional breast cancer cases (n = 5259) and population controls (n = 3586) from Finland and Belarus. No significant association with breast cancer risk was seen in the meta-analysis of the Finnish datasets or in the large BCAC dataset. The association with previously identified risk variants rs999737, rs2588809, and rs1314913 was replicated among all breast cancer cases and also among familial cases in the BCAC dataset. The most significant association was observed for the haplotype carrying the risk-alleles of all the three SNPs both among all cases (odds ratio (OR): 1.15, 95% confidence interval (CI): 1.11–1.19, P = 8.88 x 10−16) and among familial cases (OR: 1.24, 95% CI: 1.16–1.32, P = 6.19 x 10−11), compared to the haplotype with the respective protective alleles. Our results suggest that loss-of-function mutations in RAD51B are rare, but common variation at the RAD51B region is significantly associated with familial breast cancer risk

    High-resolution CT phenotypes in pulmonary sarcoidosis: a multinational Delphi consensus study

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    One view of sarcoidosis is that the term covers many different diseases. However, no classification framework exists for the future exploration of pathogenetic pathways, genetic or trigger predilections, patterns of lung function impairment, or treatment separations, or for the development of diagnostic algorithms or relevant outcome measures. We aimed to establish agreement on high-resolution CT (HRCT) phenotypic separations in sarcoidosis to anchor future CT research through a multinational two-round Delphi consensus process. Delphi participants included members of the Fleischner Society and the World Association of Sarcoidosis and other Granulomatous Disorders, as well as members' nominees. 146 individuals (98 chest physicians, 48 thoracic radiologists) from 28 countries took part, 144 of whom completed both Delphi rounds. After rating of 35 Delphi statements on a five-point Likert scale, consensus was achieved for 22 (63%) statements. There was 97% agreement on the existence of distinct HRCT phenotypes, with seven HRCT phenotypes that were categorised by participants as non-fibrotic or likely to be fibrotic. The international consensus reached in this Delphi exercise justifies the formulation of a CT classification as a basis for the possible definition of separate diseases. Further refinement of phenotypes with rapidly achievable CT studies is now needed to underpin the development of a formal classification of sarcoidosis

    Wild canids and felids differ in their reliance on reused travel routeways

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    Diverse factors, including environmental features and cognitive processes, can drive animals’ movements and space use, with far-reaching implications. For example, repeated use of individual-level travel routeways (directionally constrained but imperfectly aligned routes), which results in spatial concentration of activity, can shape encounter-based processes including predation, mate finding, and disease transmission. However, how much variation in routeway usage exists across species remains unknown. By analyzing GPS movement tracks for 1,239 range-resident mammalian carnivores—representing 16 canid and 18 felid species from six continents—we found strong evidence of a clade-level difference in species’ reliance on repeatedly used travel routeways. Across the global dataset, tracked canids had a 15% (±7 CI) greater density of routeways within their home ranges than did felids, rising to 33% (±16 CI) greater in landscapes shared with tracked felids. Moreover, comparisons within species across landscapes revealed broadly similar home range routeway densities despite habitat differences. On average, canids also reused their travel routeways more intensively than did felids, with hunting strategies and spatial contexts also contributing to the intensity of routeway usage. Collectively, our results suggest that key aspects of carnivore routeway-usage have an evolutionary component. Striking interspecific and clade-level differences in carnivores’ reliance on reused travel routeways within home ranges identify important ways in which the movement patterns of real-world predators depart from classical assumptions of predator-prey theory. Because such departures can drive key aspects of human-wildlife interactions and other encounter-based processes, continued investigations of the relationships between movement mechanisms and space use are critical

    Increasing frailty is associated with higher prevalence and reduced recognition of delirium in older hospitalised inpatients: results of a multi-centre study

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    Purpose: Delirium is a neuropsychiatric disorder delineated by an acute change in cognition, attention, and consciousness. It is common, particularly in older adults, but poorly recognised. Frailty is the accumulation of deficits conferring an increased risk of adverse outcomes. We set out to determine how severity of frailty, as measured using the CFS, affected delirium rates, and recognition in hospitalised older people in the United Kingdom. Methods: Adults over 65 years were included in an observational multi-centre audit across UK hospitals, two prospective rounds, and one retrospective note review. Clinical Frailty Scale (CFS), delirium status, and 30-day outcomes were recorded. Results: The overall prevalence of delirium was 16.3% (483). Patients with delirium were more frail than patients without delirium (median CFS 6 vs 4). The risk of delirium was greater with increasing frailty [OR 2.9 (1.8–4.6) in CFS 4 vs 1–3; OR 12.4 (6.2–24.5) in CFS 8 vs 1–3]. Higher CFS was associated with reduced recognition of delirium (OR of 0.7 (0.3–1.9) in CFS 4 compared to 0.2 (0.1–0.7) in CFS 8). These risks were both independent of age and dementia. Conclusion: We have demonstrated an incremental increase in risk of delirium with increasing frailty. This has important clinical implications, suggesting that frailty may provide a more nuanced measure of vulnerability to delirium and poor outcomes. However, the most frail patients are least likely to have their delirium diagnosed and there is a significant lack of research into the underlying pathophysiology of both of these common geriatric syndromes
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