20 research outputs found

    The birth of a human-specific neural gene by incomplete duplication and gene fusion

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    Background: Gene innovation by duplication is a fundamental evolutionary process but is difficult to study in humans due to the large size, high sequence identity, and mosaic nature of segmental duplication blocks. The human-specific gene hydrocephalus-inducing 2, HYDIN2, was generated by a 364 kbp duplication of 79 internal exons of the large ciliary gene HYDIN from chromosome 16q22.2 to chromosome 1q21.1. Because the HYDIN2 locus lacks the ancestral promoter and seven terminal exons of the progenitor gene, we sought to characterize transcription at this locus by coupling reverse transcription polymerase chain reaction and long-read sequencing. Results: 5' RACE indicates a transcription start site for HYDIN2 outside of the duplication and we observe fusion transcripts spanning both the 5' and 3' breakpoints. We observe extensive splicing diversity leading to the formation of altered open reading frames (ORFs) that appear to be under relaxed selection. We show that HYDIN2 adopted a new promoter that drives an altered pattern of expression, with highest levels in neural tissues. We estimate that the HYDIN duplication occurred ~3.2 million years ago and find that it is nearly fixed (99.9%) for diploid copy number in contemporary humans. Examination of 73 chromosome 1q21 rearrangement patients reveals that HYDIN2 is deleted or duplicated in most cases. Conclusions: Together, these data support a model of rapid gene innovation by fusion of incomplete segmental duplications, altered tissue expression, and potential subfunctionalization or neofunctionalization of HYDIN2 early in the evolution of the Homo lineage

    Field evaluation of occupant satisfaction and energy performance in eight LEED-certified buildings using radiant systems

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    In this study, we present the results of a post-occupancy assessment on thermal comfort, indoor air quality, and acoustical quality from 568 occupant surveys in eight LEED-certified buildings with radiant heating and cooling systems, and trends in low-energy consuming buildings based on building characteristics, radiant design, and building operator interviews. This study follows-up on a quantitative assessment of 60 office buildings that found radiant and all-air buildings have equal satisfaction with indoor environmental quality, with a tendency for increased thermal satisfaction in radiant buildings. Our objective was to investigate reasons of comfort and discomfort in the radiant subset, and to relate these to building characteristics and operations strategies. Our analysis revealed that the primary sources of temperature dissatisfaction are lack of control over the thermal environment (both temperature and air movement) and slow system response, both of which were seen to be alleviated with fast-response adaptive opportunities such as operable windows and personal fans. There was no optimal radiant design or operation that maximized thermal comfort, and building operators were pleased with reduced repair and maintenance associated with radiant systems compared to all-air systems. Occupants reported low satisfaction with acoustics. This was primarily due to sound privacy issues in open offices which may be exacerbated by highly reflective surfaces common in radiant spaces. Indoor air quality satisfaction appears to be aligned with thermal comfort more than ventilation strategy, and buildings with low annual energy consumption take advantage of free cooling and avoid heating and cooling in the same day or same season

    Correction: Use of IoT sensing and occupant surveys for determining the resilience of buildings to forest fire generated PM2.5.

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    [This corrects the article DOI: 10.1371/journal.pone.0223136.]

    Use of IoT sensing and occupant surveys for determining the resilience of buildings to forest fire generated PM2.5

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    Wildfires and associated emissions of particulate matter pose significant environmental and health concerns. In this study we propose tools to evaluate building resilience to extreme episodes of outdoor particulate matter using a combination of indoor and outdoor IoT measurements, coupled with survey-based information of occupants’ perception and behaviour. We demonstrated the application of the tools on two buildings with different modes of ventilation during the Chico Camp fire event. We characterized the resilience of the buildings on different temporal and spatial scales using the well-established I/O ratio and a newly proposed E-index that evaluates indoor concentration in the context of adopted 24-hour exposure thresholds. Indoor PM2.5 concentration during the entire Chico Camp Fire event was 21 μg/m3 for 4th Street (Mechanically Ventilated) and 36 μg/m3 for Wurster Hall (Naturally Ventilated). The cumulative median I/O ratio during the fire event was 0.27 for 4th Street and 0.67 for Wurster Hall. Overall E-index for 4th Street was 0.82, suggesting that the whole building was resilient to outdoor air pollution while overall E-index was 1.69 for Wurster Hall suggesting that interventions are necessary. The survey revealed that occupant perception of workplace air quality aligns with measured PM2.5 in the two buildings. The results also highlight that a large portion of occupants wore face masks, even though the PM2.5 concentration was below WHO threshold level. The results of our study demonstrate the utility of the proposed IoT-enabled and survey tools to assess the degree of protection from air pollution of outdoor origin for a single building or across a portfolio of buildings. The proposed survey tool also provides direct links between the PM2.5 levels and occupants’ perception and behavior

    The Helping Families Programme: A new parenting intervention for primary aged children with severe and persistent conduct problems

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    Background: Severe and persistent conduct problems in children during the primary school years are associated with school exclusion, increased risk of delinquency and early substance abuse. Method: Literature reviews and consultation with experts in the field were used to better understand the factors that contribute to severe and persistent conduct problems and to identify the principles and potential methods to be included in a new intervention. Results: Grounded in an ecological perspective, an innovative, multimodal intervention, the Helping Families Programme, has been developed. It uses a modular approach to systematically address parent behaviour, cognition and emotion across five key risk factor domains: parental mood and dysregulation; parent-child, family and school relationships; substance misuse; social support and networks; and managing life events and crises. Conclusion: Initial piloting of the Programme has offered early support for the potential value of the underlying principles and methods of the Programme. © 2010 The Authors. Child and Adolescent Mental Healt

    The relationship between sociocultural pressure to be thin and body dissatisfaction in preadolescent girls

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    This study investigates the relationships among sociocultural pressures to be thin, internalisation of the thin ideal, social comparison, body mass index, and body dissatisfaction in young girls. One hundred and fifty-three 10–13 year old girls completed measures assessing sociocultural pressure to be thin, media exposure, body dissatisfaction, social comparison, and internalisation of the thin ideal. Although sociocultural factors, as a group, were significantly associated with internalisation of the thin ideal, perceived media pressure was the only sociocultural influence uniquely related to internalisation of the thin ideal. Perceived pressure to be thin delivered by the media was found to be associated with body dissatisfaction via internalisation of the thin ideal. The relationship between internalisation of the thin ideal and body dissatisfaction was also partially influenced by social comparison. Body mass was found to have a direct association with body dissatisfaction. A model incorporating the relationships among media pressure, internalisation of the thin ideal, social comparison, and body dissatisfaction is proposed

    Evaluation of a person-centred, nurse-led model of care delivering hepatitis C testing and treatment in priority settings: a mixed-methods evaluation of the Tasmanian Eliminate Hepatitis C Australia Outreach Project, 2020–2022

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    Abstract Introduction Australia has experienced sustained reductions in hepatitis C testing and treatment and may miss its 2030 elimination targets. Addressing gaps in community-based hepatitis C prescribing in priority settings that did not have, or did not prioritise, hepatitis C testing and treatment care pathways is critical. Methods The Tasmanian Eliminate Hepatitis C Australia Outreach Project delivered a nurse-led outreach model of care servicing hepatitis C priority populations in the community through the Tasmanian Statewide Sexual Health Service, supported by the Eliminating Hepatitis C Australia partnership. Settings included alcohol and other drug services, needle and syringe programs and mental health services. The project provided clients with clinical care across the hepatitis C cascade of care, including testing, treatment, and post-treatment support and hepatitis C education for staff. Results Between July 2020 and July 2022, a total of 43 sites were visited by one Clinical Nurse Consultant. There was a total of 695 interactions with clients across 219 days of service delivery by the Clinical Nurse Consultant. A total of 383 clients were tested for hepatitis C (antibody, RNA, or both). A total of 75 clients were diagnosed with hepatitis C RNA, of which 95% (71/75) commenced treatment, 83% (62/75) completed treatment and 52% (39/75) received a negative hepatitis C RNA test at least 12 weeks after treatment completion. Conclusions Providing outreach hepatitis C services in community-based services was effective in engaging people living with and at-risk of hepatitis C, in education, testing, and care. Nurse-led, person-centred care was critical to the success of the project. Our evaluation underscores the importance of employing a partnership approach when delivering hepatitis C models of care in community settings, and incorporating workforce education and capacity-building activities when working with non-specialist healthcare professionals
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