5 research outputs found

    The acceptability of technology-enabled physical activity feedback in cardiac patients and health care professionals

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    Purpose: Physical activity is a key component of cardiac rehabilitation (CR). Despite the widely reported benefits of CR, uptake in the United Kingdom is still low. Alternative home-based and technology-facilitated delivery models are needed to improve CR uptake and physical activity. This study set out to explore patient and clinician views of personalised, multidimensional physical activity feedback and its potential use within CR. Methods: We developed graphics for the presentation of personalised multidimensional physical activity feedback from data collected through wrist-worn monitors. Thirteen cardiac patients and nine healthcare professionals recruited from South West England wore research grade physical activity monitors for seven days. Participants then attended semi-structured interviews during which personalised physical activity feedback was provided. Interviews were audio-recorded, transcribed, and analysed thematically. Results: Two main themes were derived from the data which covered: 1) the perceived value of multidimensional physical activity feedback, and 2) support needed to facilitate understanding. Within the first theme, participants acknowledged that multidimensional physical activity feedback was useful for monitoring progress, goal setting, and increasing self-awareness of physical activity behaviour among both patients and clinicians. Within theme two, the need for more guidance and support from clinicians to aid patient understanding and reassurance was highlighted, particularly for those with very low physical activity levels. Conclusions: Multidimensional physical activity feedback delivered using a technology-enabled approach was perceived as acceptable among patients and clinicians. This study provides insights into the potential novel use of technology-enabled physical activity feedback to support and expand the delivery of CR.</p

    Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

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    The occurrence of non-epileptic hyperkinetic movements in the context of developmental epileptic encephalopathies is an increasingly recognized phenomenon. Identification of causative mutations provides an important insight into common pathogenic mechanisms that cause both seizures and abnormal motor control. We report bi-allelic loss-of-function CACNA1B variants in six children from three unrelated families whose affected members present with a complex and progressive neurological syndrome. All affected individuals presented with epileptic encephalopathy, severe neurodevelopmental delay (often with regression), and a hyperkinetic movement disorder. Additional neurological features included postnatal microcephaly and hypotonia. Five children died in childhood or adolescence (mean age of death: 9 years), mainly as a result of secondary respiratory complications. CACNA1B encodes the pore-forming subunit of the pre-synaptic neuronal voltage-gated calcium channel Cav2.2/N-type, crucial for SNARE-mediated neurotransmission, particularly in the early postnatal period. Bi-allelic loss-of-function variants in CACNA1B are predicted to cause disruption of Ca2+ influx, leading to impaired synaptic neurotransmission. The resultant effect on neuronal function is likely to be important in the development of involuntary movements and epilepsy. Overall, our findings provide further evidence for the key role of Cav2.2 in normal human neurodevelopment.MAK is funded by an NIHR Research Professorship and receives funding from the Wellcome Trust, Great Ormond Street Children's Hospital Charity, and Rosetrees Trust. E.M. received funding from the Rosetrees Trust (CD-A53) and Great Ormond Street Hospital Children's Charity. K.G. received funding from Temple Street Foundation. A.M. is funded by Great Ormond Street Hospital, the National Institute for Health Research (NIHR), and Biomedical Research Centre. F.L.R. and D.G. are funded by Cambridge Biomedical Research Centre. K.C. and A.S.J. are funded by NIHR Bioresource for Rare Diseases. The DDD Study presents independent research commissioned by the Health Innovation Challenge Fund (grant number HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the Department of Health, and the Wellcome Trust Sanger Institute (grant number WT098051). We acknowledge support from the UK Department of Health via the NIHR comprehensive Biomedical Research Centre award to Guy's and St. Thomas' National Health Service (NHS) Foundation Trust in partnership with King's College London. This research was also supported by the NIHR Great Ormond Street Hospital Biomedical Research Centre. J.H.C. is in receipt of an NIHR Senior Investigator Award. The research team acknowledges the support of the NIHR through the Comprehensive Clinical Research Network. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR, Department of Health, or Wellcome Trust. E.R.M. acknowledges support from NIHR Cambridge Biomedical Research Centre, an NIHR Senior Investigator Award, and the University of Cambridge has received salary support in respect of E.R.M. from the NHS in the East of England through the Clinical Academic Reserve. I.E.S. is supported by the National Health and Medical Research Council of Australia (Program Grant and Practitioner Fellowship)

    Teachers' perspectives on the acceptability and feasibility of wearable technology to inform school-based physical activity practices

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    Background: Many children are not engaging in sufficient physical activity and there are substantial between-children physical activity inequalities. In addition to their primary role as educators, teachers are often regarded as being well-placed to make vital contributions to inclusive visions of physical activity promotion. With the dramatic increase in popularity of wearable technologies for physical activity promotion in recent years, there is a need to better understand teachers' perspectives about using such devices, and the data they produce, to support physical activity promotion in schools.Method: Semi-structured interviews were conducted with 26 UK-based primary school teachers, exploring their responses to children's physical activity data and their views about using wearable technologies during the school day. Interview discussions were facilitated by an elicitation technique whereby participants were presented with graphs illustrating children's in-school physical activity obtained from secondary wearable technology data. Interview transcripts were thematically analyzed.Results: Most teachers spoke positively about the use of wearable technologies specifically designed for school use, highlighting potential benefits and considerations. Many teachers were able to understand and critically interpret data showing unequal physical activity patterns both within-and between-schools. Being presented with the data prompted teachers to provide explanations about observable patterns, emotional reactions—particularly about inequalities—and express motivations to change the current situations in schools.Conclusion: These findings suggest that primary school teachers in the UK are open to integrating wearable technology for measuring children's physical activity into their practices and can interpret the data produced by such devices. Visual representations of physical activity elicited strong responses and thus could be used when working with teachers as an effective trigger to inform school practices and policies seeking to address in-school physical inactivity and inequalities

    Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort (Nature, (2020), 583, 7814, (90-95), 10.1038/s41586-020-2265-1)

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    An amendment to this paper has been published and can be accessed via a link at the top of the paper

    Biallelic Mutation of ARHGEF18 , Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration

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