142 research outputs found

    Next Generation Sequencing Detects Premeiotic Errors in Human Oocytes

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    Autosomal aneuploidy is the leading cause of embryonic and foetal death in humans. This arises mainly from errors in meiosis I or II of oogenesis. A largely ignored source of error stems from germinal mosaicism, which leads to premeiotic aneuploidy. Molecular cytogenetic studies employing metaphase fluorescence in situ hybridization and comparative genomic hybridisation suggest that premeiotic aneuploidy may affect 10–20% of oocytes overall. Such studies have been criticised on technical grounds. We report here an independent study carried out on unmanipulated oocytes that have been analysed using next generation sequencing (NGS). This study confirms that the incidence of premeiotic aneuploidy in an unselected series of oocytes exceeds 10%. A total of 140 oocytes donated by 42 women gave conclusive results; of these, 124 (88.5%) were euploid. Sixteen out of 140 (11.4%) provided evidence of premeiotic aneuploidy. Of the 140, 112 oocytes were immature (germinal vesicle or metaphase I), of which 10 were aneuploid (8.93%); the remaining 28 were intact metaphase II-first polar body complexes, and six of these were aneuploid (21.4%). Of the 16 aneuploid cells, half contained simple errors (one or two abnormal chromosomes) and half contained complex errors. We conclude that germinal mosaicism leading to premeiotic aneuploidy is a consistent finding affecting at least 10% of unselected oocytes from women undergoing egg collection for a variety of reasons. The importance of premeiotic aneuploidy lies in the fact that, for individual oocytes, it greatly increases the risk of an aneuploid mature oocyte irrespective of maternal age. As such, this may account for some cases of aneuploid conceptions in very young women

    International criteria for electrocardiographic interpretation in athletes: Consensus statement.

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    Sudden cardiac death (SCD) is the leading cause of mortality in athletes during sport. A variety of mostly hereditary, structural or electrical cardiac disorders are associated with SCD in young athletes, the majority of which can be identified or suggested by abnormalities on a resting 12-lead electrocardiogram (ECG). Whether used for diagnostic or screening purposes, physicians responsible for the cardiovascular care of athletes should be knowledgeable and competent in ECG interpretation in athletes. However, in most countries a shortage of physician expertise limits wider application of the ECG in the care of the athlete. A critical need exists for physician education in modern ECG interpretation that distinguishes normal physiological adaptations in athletes from distinctly abnormal findings suggestive of underlying pathology. Since the original 2010 European Society of Cardiology recommendations for ECG interpretation in athletes, ECG standards have evolved quickly, advanced by a growing body of scientific data and investigations that both examine proposed criteria sets and establish new evidence to guide refinements. On 26-27 February 2015, an international group of experts in sports cardiology, inherited cardiac disease, and sports medicine convened in Seattle, Washington (USA), to update contemporary standards for ECG interpretation in athletes. The objective of the meeting was to define and revise ECG interpretation standards based on new and emerging research and to develop a clear guide to the proper evaluation of ECG abnormalities in athletes. This statement represents an international consensus for ECG interpretation in athletes and provides expert opinion-based recommendations linking specific ECG abnormalities and the secondary evaluation for conditions associated with SCD

    Do schools differ in suicide risk? the influence of school and neighbourhood on attempted suicide, suicidal ideation and self-harm among secondary school pupils

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    <br>Background: Rates of suicide and poor mental health are high in environments (neighbourhoods and institutions) where individuals have only weak social ties, feel socially disconnected and experience anomie - a mismatch between individual and community norms and values. Young people spend much of their time within the school environment, but the influence of school context (school connectedness, ethos and contextual factors such as school size or denomination) on suicide-risk is understudied. Our aim is to explore if school context is associated with rates of attempted suicide and suicide-risk at age 15 and self-harm at age 19, adjusting for confounders.</br> <br>Methods: A longitudinal school-based survey of 1698 young people surveyed when aged 11, (primary school), 15 (secondary school) and in early adulthood (age 19). Participants provided data about attempted suicide and suicide-risk at age 15 and deliberate self-harm at 19. In addition, data were collected about mental health at age 11, social background (gender, religion, etc.), and at age 15, perception of local area (e.g. neighbourhood cohesion, safety/civility and facilities), school connectedness (school engagement, involvement, etc.) and school context (size, denomination, etc.). A dummy variable was created indicating a religious 'mismatch', where pupils held a different faith from their school denomination. Data were analysed using multilevel logistic regression.</br> <br>Results: After adjustment for confounders, pupils attempted suicide, suicide-risk and self-harm were all more likely among pupils with low school engagement (15-18% increase in odds for each SD change in engagement). While holding Catholic religious beliefs was protective, attending a Catholic school was a risk factor for suicidal behaviours. This pattern was explained by religious 'mismatch': pupils of a different religion from their school were approximately 2-4 times more likely to attempt suicide, be a suicide-risk or self-harm.</br> <br>Conclusions: With several caveats, we found support for the importance of school context for suicidality and self-harm. School policies promoting school connectedness are uncontroversial. Devising a policy to reduce risks to pupils holding a different faith from that of their school may be more problematic.</br&gt

    A comparison of conventional and 137 Cs-based estimates of soil erosion rates on arable and grassland across lowland England and Wales

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    Soils deliver a range of ecosystem services and underpin conventional global food production which must increase to feed the projected growth in human population. Although soil erosion by water and subsequent sediment delivery to rivers are natural processes, anthropogenic pressures, including modern farming practices and management, have accelerated soil erosion rates on both arable and grassland. A range of approaches can be used to assess and document soil erosion rates and, in the case of the UK, these mainly comprise the 137Cs-based approach, conventional surveys using volumetric measurements, integration of information on suspended sediment flux, fine sediment source apportionment and landscape sediment retention and traditional bounded hydrological monitoring at edge-of-field using experimental platforms. We compare the erosion rates for arable and grassland in lowland England assessed by these different techniques. Rates assessed by volumetric measurements are similar to those generated by integrating information on suspended sediment flux, sources and landscape retention, but are much less than those estimated by the 137Cs-based approach; of the order of one magnitude less for arable land. The 137Cs approach assumes an initial distribution of 137Cs uniformly spread across the landscape and relates the sampled distribution to erosion, but other (transport) processes are also involved and their representation in the calibration procedures remains problematic. We suggest that the 137Cs technique needs to be validated more rigorously and conversion models re-calibrated. As things stand, rates of erosion based on the distribution of 137Cs may well overstate the severity of the problem in lowland Britain and, therefore, are not a reliable indicator of water erosion rates

    Outcomes from elective colorectal cancer surgery during the SARS-CoV-2 pandemic

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    This study aimed to describe the change in surgical practice and the impact of SARS-CoV-2 on mortality after surgical resection of colorectal cancer during the initial phases of the SARS-CoV-2 pandemic

    Charting Disaster Recovery via Google Street View: A Social Science Perspective on Challenges Raised by the Fukushima Nuclear Disaster

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    There is increasing interest in using Google Street View (GSV) for research purposes, particularly with regard to “virtually auditing” the built environment to assess environmental quality. Research in this field to date generally suggests GSV is a reliable means of understanding the “real world” environment. But limitations around the dates and resolution of images have been identified. An emerging strand within this literature is also concerned with the potential of GSV to understand recovery post-disaster. Using the GSV data set for the evacuated area around the Fukushima Dai’ichi nuclear power plant as a case study, this article evaluates GSV as a means of assessing disaster recovery in a dynamic situation with remaining uncertainty and a significant value and emotive dimension. The article suggests that GSV does have value in giving a high-level overview of the post-disaster situation and has potential to track recovery and resettlement over time. Drawing on social science literature relating to Fukushima, and disasters more widely, the article also argues it is imperative for researchers using GSV to reflect carefully on the wider socio-cultural contexts that are often not represented in the photo montage

    Internal Migration, Sport and the Scottish Diaspora in England.

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    Sport has been argued to play an important role for members of diasporic groups of various origins and in various locations (Burdsey, 2006; Carrington, 2010; Darby and Hassan, 2008; Kaufman, 2005). However, little attention has been paid to the role sport plays for ‘internal migrants’ who migrate to contrasting locations within a nation-state, despite the potential for significant contrasts in the prevailing sporting cultures found in different regions of the same nation-state. This article therefore aims to make a contribution towards understanding this relationship by reflecting upon the role sport plays for members of the Scottish diaspora living in England, drawing upon interviews and personal reflections from a number of Scottish ‘internal migrants’ located within the United Kingdom. In particular, discussion attempts to draw attention to the central role sport plays for these individuals in order to maintain a cultural attachment with their Scottish birthplace, given the relative lack of other cultural practices or associations which could be used to achieve this goal. Comparisons are also drawn with studies of the Scottish diaspora in more distant geographic contexts, as well as similar diasporic groups in the English context such as the Irish diaspora. These comparisons allow for a consideration of the impact of geographic proximity and cultural proximity on the relative importance of sport and other cultural practices for Scots living in England, identifying a number of important issues for those studying the role played by sport in the maintenance of a cultural attachment with ‘home’ for various diasporic groups

    Effects of a Task Switch on the Recognition of Facial Emotion Expression, 2012-2013

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    Previous task-switching studies have shown that shifting attention to a relevant stimulus attribute before stimulus onset is limited: several EEG markers of perceptual encoding (including processes previously thought to be automatic, e.g., visual word recognition) are delayed on task-switch trials. This study investigated whether this was the case for another process of perceptual encoding thought to be automatic: recognising facial emotions. Facial emotion recognition is reported to have a well-established marker in the ERP (event-related potential), the emotion-expression effect (EEE; more positive amplitudes for emotional than neutral expressions in fronto-central parts of the scalp starting around 150 ms after stimulus onset). This study examined whether the EEE would be delayed when switching to the emotion classification task. Participants classified compound stimuli- face stimuli with a letter superimposed- depending on the task they were cued to perform on a particular trial (emotion classification: emotional or neutral, or letter classification: vowel or consonant). The task had to be repeated on a random 2/3rds of the trials or switched on 1/3rd of the trials. We collected behavioural data in form of reaction times and error rates and concurrently recorded the EEG from which the ERPs were derived
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