212 research outputs found

    Is this a Petipa dance we are watching?

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    A Comparison of Sample Size and Power in Case-Only Association Studies of Gene-Environment Interaction

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    Assuming continuous, normally distributed environmental and categorical genotype variables, the authors compare 6 case-only designs for tests of association in gene-environment interaction. Novel tests modeling the environmental variable as either the response or the predictor and allowing a genetic variable with multiallelic variants are included. The authors show that tests imposing the same genotypic pattern of inheritance perform similarly regardless of whether genotype is the response variable or the predictor variable. The novel tests using the genetic variable as the response variable are advantageous because they are robust to non-normally distributed environmental exposures. Dominance deviance—deviation from additivity in the main or interaction effects—is key to test performance: When it is zero or modest, tests searching for a trend with increasing risk alleles are optimal; when it is large, tests for genotypic effects are optimal. However, the authors show that dominance deviance is attenuated when it is observed at a proxy locus, which is common in genome-wide association studies, so large dominance deviance is likely to be rare. The authors conclude that the trend test is the appropriate tool for large-scale association scans where the true gene-environment interaction model is unknown. The common practice of assuming a dominant pattern of inheritance can cause serious losses of power in the presence of any recessive, or modest dominant, effects

    DTB 038 The Morris Family 7-4-2022

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    In this interview, the Morris family is interviewed by Kern Jackson, Philip Carr, Rachel Hines, and Latresha Maddix at their family reunion at the James Seals Jr. Park and Community Center in Mobile, Alabama. The Morris family begins by talking about their family history Down the Bay, and some of the people and places in the neighborhood that figure significantly in their memory. One particular such individual is Williamson High School principal Lemuel Keeby. Additional family members make occasional appearances in the interview as they move between rooms at the reunion

    Toward full integration of quantitative and qualitative methods in case study research: insights from investigating child welfare inequalities

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    Delineation of the full integration of quantitative and qualitative methods throughout all stages of multisite mixed methods case study projects remains a gap in the methodological literature. This article offers advances to the field of mixed methods by detailing the application and integration of mixed methods throughout all stages of one such project; a study of child welfare inequalities. By offering a critical discussion of site selection and the management of confirmatory, expansionary and discordant data, this article contributes to the limited body of mixed methods exemplars specific to this field. We propose that our mixed methods approach provided distinctive insights into a complex social problem, offering expanded understandings of the relationship between poverty, child abuse, and neglect

    Social work, poverty, and child welfare interventions

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    ** From Crossref via Jisc Publications Router.The relationship between children's material circumstances and child abuse and neglect raises a series of questions for policy, practice, and practitioners. Children and families in poverty are significantly more likely to be the subject of state intervention. This article, based on a unique mixed‐methods study of social work interventions and the influence of poverty, highlights a narrative from practitioners that argues that, as many poor families do not harm their children, it is stigmatizing to discuss a link between poverty and child abuse and neglect. The data reveal that poverty has become invisible in practice, in part justified by avoiding stigma but also because of a lack of up‐to‐date research knowledge and investment by some social workers in an “underclass” discourse. We argue, in light of the evidence that poverty is a contributory factor in the risk of harm, that it is vital that social work engages with the evidence and in critical reflection about intervening in the context of poverty. We identify the need for fresh approaches to the harms children and families face in order to support practices that engage confidently with the consequences of poverty and deprivation.NO DIVISION23pub5171pub

    SCOPA and META-SCOPA: software for the analysis and aggregation of genome-wide association studies of multiple correlated phenotypes

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    Abstract Background: Genome-wide association studies (GWAS) of single nucleotide polymorphisms (SNPs) have been successful in identifying loci contributing genetic effects to a wide range of complex human diseases and quantitative traits. The traditional approach to GWAS analysis is to consider each phenotype separately, despite the fact that many diseases and quantitative traits are correlated with each other, and often measured in the same sample of individuals. Multivariate analyses of correlated phenotypes have been demonstrated, by simulation, to increase power to detect association with SNPs, and thus may enable improved detection of novel loci contributing to diseases and quantitative traits

    Parents Suggest Which Indicators of Progress and Outcomes Should be Measured in Young Children with Autism Spectrum Disorder

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    This is the final version of the article. Available from Springer Verlag via the DOI in this record.Evaluation of interventions for children with autism spectrum disorder (ASD) is hampered by the multitude of outcomes measured and tools used. Measurement in research with young children tends to focus on core impairments in ASD. We conducted a systematic review of qualitative studies of what matters to parents. Parent advisory groups completed structured activities to explore their perceptions of the relative importance of a wide range of outcome constructs. Their highest ranked outcomes impacted directly on everyday life and functioning (anxiety, distress, hypersensitivity, sleep problems, happiness, relationships with brothers and sisters, and parent stress). Collaboration between professionals, researchers and parents/carers is required to determine an agreed core set of outcomes to use across evaluation research.The study which included the work reported in this paper was commissioned and funded by the National Institute for Health Research (NIHR) under the Health Technology Assessment programme (HTA Project: 11/22/03)

    Rapid prototyping Lab-on-Chip devices for the future: A numerical optimisation of bulk optical parameters in microfluidic systems

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    Nuclear reactor process control is typically monitored for pure β-emitting radionuclides via manual sampling followed by laboratory analysis, leading to delays in data availability and response times. The development of an in situ microfluidic Lab on Chip (LoC) system with integrated detection capable of measuring pure β-emitting radionuclides presents a promising solution, enabling a reduction in occupational exposure and cost of monitoring whilst providing improved temporal resolution through near real-time data acquisition. However, testing prototypes with radioactive sources is time-consuming, requires specialist facilities/equipment, generates contaminated waste, and cannot rapidly evaluate a wide range of designs or configurations. Despite this, modelling multiple design parameters and testing their impact on detection with non-radioactive substitutes has yet to be adopted as best practice. The measurement of pure β emitters in aqueous media relies on the efficient transport of photons generated by the Cherenkov effect or liquid scintillators to the detector. Here we explore the role of numerical modelling to assess the impact of optical cell geometry and design on photon transmission and detection through the microfluidic system, facilitating improved designs to realise better efficiency of integrated detectors and overall platform design. Our results demonstrate that theoretical modelling and an experimental evaluation using non-radiogenic chemiluminescence are viable for system testing design parameters and their impact on photon transport. These approaches enable reduced material consumption and requirement for specialist facilities for handling radioactive materials during the prototyping process. This method establishes proof of concept and the first step towards numerical modelling approaches for the design optimisation of microfluidic LoC systems with integrated detectors for the measurement of pure β emitting radionuclides via scintillation-based detection
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