Wellcome Open Research最新文献

Background: Hearing loss is a risk factor for developing auditory hallucinations and other psychosis symptoms. To date, very little research has investigated hearing loss in individuals with a high genetic risk of developing schizophrenia and other types of psychosis. 13 copy number variant (CNV) loci are robustly associated with an increased risk of schizophrenia. Of these, microdeletions at 22q11.2 often lead to some hearing loss, and mouse models of this CNV display impaired auditory functioning. We hypothesise that individuals who have a high genetic risk of schizophrenia may also experience hearing problems. This scoping review will explore whether the 13 schizophrenia-associated CNVs are related to hearing problems, including peripheral hearing loss and other auditory problems, in humans and related mouse models.

Methods: Our scoping review will follow guidelines provided by the Joanna Briggs Institute and the Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews. A systematic search will be completed using PubMed (MEDLINE), Embase, PsychINFO, and Cochrane Library databases, as well as other sources to identify relevant grey literature. Search terms will include all commonly used synonyms for hearing loss and problems with auditory perception, and both human and mouse studies that describe relevant CNVs will be included. Search lists will be screened by two authors independently, according to eligibility criteria, and data will be extracted and summarised using a narrative approach.

Conclusions: To our knowledge, this will be the first scoping review to explore auditory functioning across all CNVs that confer high schizophrenia risk. Looking ahead, if hearing problems are a clinical feature in these groups (including humans and related mouse models), they may serve as useful genetic models for future mechanistic studies.

We present a genome assembly from an individual female Yponomeuta evonymella (the Bird-cherry Ermine; Arthropoda; Insecta; Lepidoptera; Yponomeutidae). The genome sequence has a total length of 572.70 megabases. Most of the assembly is scaffolded into 32 chromosomal pseudomolecules, including the trivalent sex chromosomes Z ₁, Z ₂ and W. The mitochondrial genome has also been assembled and is 16.16 kilobases in length.

Background: Due to demographic and epidemiological shifts, people are living until older ages with more morbidities. These morbidities often have shared pathophysiology, which leads to a rise in coexisting health issues known as 'multimorbidity'. Primary care studies and disease burden surveys have multiplied, unveiling varied aspects of multimorbidity, yet with inconsistent definitions and methods. This protocol aims to guide an in-depth and comprehensive exploration of multimorbidity research in India through a scoping review, to understand the extent, range, and nature of research on multimorbidity in India.

Methods: This study will comprehensively search the PubMed/Medline, Cochrane, and Embase databases employing a well-defined strategy. All studies published in English will be considered, provided the focus is multimorbidity and there is information specifically from India. Two reviewers will independently screen the search outcomes, and data extraction will include multimorbidity definitions, data and methods, patterns, risk factors and outcomes. The research will follow the Joanna Briggs Institute framework and adhere to PRISMA-P 2015 guidelines for reporting. Descriptive statistics and narrative synthesis will be used to summarize findings.

Conclusions: Findings from this review will shed light on the extent and nature of multimorbidity research in India and help guide future research.

Background: Anopheles stephensi, a malaria mosquito originally from South Asia and the Middle East, has been expanding across both Asia and Africa in recent decades. The invasion of this species into sub-Saharan Africa is of particular concern given its potential to increase malaria burden, especially in urban environments where An. stephensi thrives. Whilst surveillance of this vector in Africa has recently increased markedly there is a need to review the existing methods of An. stephensi control so that we can stop, rather than simply monitor, its spread in Africa.

Methods: We searched published papers in PubMed using An. stephensi and intervention-specific search terms. Forty-five full-text articles were screened for eligibility and all those that reported the use of interventions against An. stephensi, and the effect on malaria incidence, malaria prevalence or vector densities were included in the analysis. All data retrieved from the literature were from the native range of An. stephensi and from the period 1995 to 2018.

Results: Fourteen studies which met the inclusion criteria were included in the final analysis. The vector control interventions discussed were bio larvicides (n=3), repellents (n=1), Indoor Residual Spraying (n=2), Insecticide Treated Nets (n=3), insecticide-treated materials other than nets (n=3), the combined use of repellents and mosquito nets (n=1), and combination of biolarvicide and fish (n=1). Outcomes of the studies were primarily vector density (n=10) although some reported malaria incidence and/or prevalence (n=4).

Conclusions: Long-lasting insecticidal nets and indoor residual spraying are effective in controlling, An. stephensi-transmitted malaria and reducing vector density, with repellents offering a complementary approach, especially in urban areas where this vector thrives. The private sector can help scale up affordable repellent production in Africa. There is a need to address gaps in cost-effectiveness analysis and gather more epidemiological evidence to better assess the impact of malaria control strategies.

On March 11th 2020, the World Health Organization characterised COVID-19 as a pandemic. Responses to containing the spread of the virus have relied heavily on policies involving restricting contact between people. Evolving policies regarding shielding and individual choices about restricting social contact will rely heavily on perceived risk of poor outcomes from COVID-19. In order to make informed decisions, both individual and collective, good predictive models are required. For outcomes related to an infectious disease, the performance of any risk prediction model will depend heavily on the underlying prevalence of infection in the population of interest. Incorporating measures of how this changes over time may result in important improvements in prediction model performance. This protocol reports details of a planned study to explore the extent to which incorporating time-varying measures of infection burden over time improves the quality of risk prediction models for COVID-19 death in a large population of adult patients in England. To achieve this aim, we will compare the performance of different modelling approaches to risk prediction, including static cohort approaches typically used in chronic disease settings and landmarking approaches incorporating time-varying measures of infection prevalence and policy change, using COVID-19 related deaths data linked to longitudinal primary care electronic health records data within the OpenSAFELY secure analytics platform.

Background: The emergency context of the Covid-19 pandemic necessitated the use of national and international public health measures of unprecedented scale to minimize mortality and morbidity, often in conflict with other principles and rights, such as the autonomy of individuals. Concerns have been voiced that for populations facing precarity, such as migrants, a disproportionate and unfair application of restrictive measures, deficient application of protective measures, and even enforcement of restrictive migration policies under the pretext of the pandemic has occurred.

Methods: Experts have proposed various principles as possible moral foundations of public health interventions. The author used two public health ethics frameworks to examine the ethical acceptability of movement restrictions on asylum seekers residing in refugee camps in Greece from March 2020 to October 2020.

Results: Most of the principles described in the frameworks for the ethical application of movement restrictions were not adhered to. Main concerns include that, measures were prolonged despite lack of evidence about their effectiveness to reduce morbidity and mortality, while posing severe and disproportionate burdens for this population.

Conclusions: An ethically acceptable public health response to Covid-19 is incompatible with certain living conditions of refugees, asylum seekers, and migrants. Moral and political determinants of health, such as social inequalities and criteria for health resources allocation, can shape the form and effectiveness of public health interventions during emergencies. The role of the discipline of public health to address these underlying determinants, that influence health-related outcomes, is an important moral question in itself. It is essential for public health professionals to be aware of the moral theorizations that underpin their work, so as to ensure that their policies align with them and to contribute to the debate that shapes these determinants.

Background: Awake prone positioning (APP) may be beneficial in patients with respiratory failure who are not receiving mechanical ventilation. Randomized controlled trials of APP have been performed during peak COVID-19 periods in unvaccinated populations, with limited data on compliance or patient acceptability. We aimed to evaluate the efficacy and acceptability of APP in a lower-middle income country in an open-label randomized controlled trial using a dedicated APP implementation team and wearable continuous-monitoring devices.

Methods: The trial was performed at a tertiary level hospital in Ho Chi Minh City, Vietnam, recruiting adults (≥18 years) hospitalized with moderate or severe COVID-19 and receiving supplemental oxygen therapy via nasal/facemask systems or high-flow nasal cannula (HFNC). Patients were allocated by a computer-generated random number sequence in a 1:1 ratio to standard care or APP, where a dedicated team provided bedside support. Wearable devices continuously recorded pulse oximetry and body position continuously. Our primary outcome was escalation of respiratory support within 28 days of randomization.

Results: Ninety-three patients were enrolled in this study between March 2022 and March 2023. Eighty (86%) patients had received ≥2 doses of SARS-CoV2 vaccine. The study was terminated early because of a reduction in the number of eligible patients. Data from 46 patients allocated to APP and 47 to standard care were available for analysis. At baseline, 19/47 (40%) patients allocated to the standard care group and 14/46 (30%) patients allocated to the APP group received HFNC. Continuous monitoring data were available for all patients monitored with wearable devices. Significantly greater mean daily APP times were achieved in those allocated to APP, however, most achieved less than the target 8 h/day. We did not detect clear differences in the primary outcome (relative risk,RR, 0.85, 95% CI 0.40-1.78, p=0.67) or secondary outcomes, including intubation rate and 28-day mortality. Patients reported prone positioning was comfortable, although almost all patients preferred supine positioning. No adverse events associated with the intervention were observed.

Conclusions: APP was not associated with benefit, but there was no sign of harm. Continuous monitoring with wearable devices is both feasible and acceptable for patients. In our population, achieving prolonged APP time was challenging despite a dedicated support team, and patients preferred supine positioning.

Clinical trials registration: NCT05083130.

Birth cohort studies involve repeated surveys of large numbers of individuals from birth and throughout their lives. They collect information useful for a wide range of life course research domains, and biological samples which can be used to derive data from an increasing collection of omic technologies. This rich source of longitudinal data, when combined with genomic data, offers the scientific community valuable insights ranging from population genetics to applications across the social sciences. Here we present quality-controlled whole exome sequencing data from three UK birth cohorts: the Avon Longitudinal Study of Parents and Children (8,436 children and 3,215 parents), the Millenium Cohort Study (7,667 children and 6,925 parents) and Born in Bradford (8,784 children and 2,875 parents). The overall objective of this coordinated effort is to make the resulting high-quality data widely accessible to the global research community in a timely manner. We describe how the datasets were generated and subjected to quality control at the sample, variant and genotype level. We then present some preliminary analyses to illustrate the quality of the datasets and probe potential sources of bias. We introduce measures of ultra-rare variant burden to the variables available for researchers working on these cohorts, and show that the exome-wide burden of deleterious protein-truncating variants, S _het burden, is associated with educational attainment and cognitive test scores. The whole exome sequence data from these birth cohorts (CRAM & VCF files) are available through the European Genome-Phenome Archive, and here we provide guidance for their use.

Background: Data reusability is the driving force of the research data life cycle. However, implementing strategies to generate reusable data from the data creation to the sharing stages is still a significant challenge. Even when datasets supporting a study are publicly shared, the outputs are often incomplete and/or not reusable. The FAIR (Findable, Accessible, Interoperable, Reusable) principles were published as a general guidance to promote data reusability in research, but the practical implementation of FAIR principles in research groups is still falling behind. In biology, the lack of standard practices for a large diversity of data types, data storage and preservation issues, and the lack of familiarity among researchers are some of the main impeding factors to achieve FAIR data. Past literature describes biological curation from the perspective of data resources that aggregate data, often from publications.

Methods: Our team works alongside data-generating, experimental researchers so our perspective aligns with publication authors rather than aggregators. We detail the processes for organizing datasets for publication, showcasing practical examples from data curation to data sharing. We also recommend strategies, tools and web resources to maximize data reusability, while maintaining research productivity.

Conclusion: We propose a simple approach to address research data management challenges for experimentalists, designed to promote FAIR data sharing. This strategy not only simplifies data management, but also enhances data visibility, recognition and impact, ultimately benefiting the entire scientific community.

Background: Throughout the coronavirus pandemic, references to scientific findings have permeated public-facing communications. Understanding how members of the public view science, scientists and scientific uncertainty should enhance approaches to communication and individuals' decisions to engage with public health measures, including restrictions and vaccination programmes. This article provides descriptive statistics regarding public views and their univariable associations with key variables: age, gender, ethnicity, keyworker status, shielding status, caring responsibilities, and coronavirus exposure.

Methods: A survey was conducted on our behalf by YouGov in November 2020. The survey asked about: level of public trust in scientists and scientific information; changes in trust between March and November 2020; views about communication of scientific uncertainty; confidence in the accuracy of scientific findings; and views about whether public information accurately represents coronavirus science.

Results: The sample comprised 2,025 individuals in England; 40.5% were ≥55 years old, 51.1% were female; 12.3% identified as members of an ethnic minority/mixed ethnicity. Trust was highest among older respondents and those who identified as of white ethnicity. The concurrent (November 2020) levels of reported trust in scientific information about coronavirus were generally lower than those reported retrospectively for the pandemic's start (March 2020). There was higher trust and positivity about science among people who had been shielding and among those who had not contracted coronavirus. Around half of respondents did not think that the uncertainty in science was conveyed much or at all, most were confident in the accuracy of coronavirus science, and around half thought that public information was a true representation of the science.

Conclusions: Our study indicates that there is room to improve trust and communication in science. As well as multivariable analyses to explore interrelationships, further research could examine reasons behind change in trust over time and any patterns due to age, ethnicity, and shielding status.