2,213 research outputs found
'Dressage Is Full of Queens!' Masculinity, Sexuality and Equestrian Sport
Attitudes towards sexuality are changing and levels of cultural homophobia decreasing, yet there remain very few openly gay men within sport. As a proving ground for heteromasculinity, sport has traditionally been a hostile environment for gay men. This article is based on an ethnographic study within a sporting subworld in which gay men do appear to be accepted: equestrian sport. Drawing on inclusive masculinity theory, equestrian sport is shown to offer an unusually tolerant environment for gay men in which heterosexual men of all ages demonstrate low levels of homophobia. Inclusive masculinity theory is a useful framework for exploring the changing nature of masculinities and this study demonstrates that gay men are becoming increasingly visible and accepted within once unreceptive locales, such as sport and rural communities. However, this more tolerant attitude is purchased at the expense of a subordinated feminine Other, perpetuating the dominance of men within competitive sport. © The Author(s) 2012
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EM-mosaic detects mosaic point mutations that contribute to congenital heart disease.
BackgroundThe contribution of somatic mosaicism, or genetic mutations arising after oocyte fertilization, to congenital heart disease (CHD) is not well understood. Further, the relationship between mosaicism in blood and cardiovascular tissue has not been determined.MethodsWe developed a new computational method, EM-mosaic (Expectation-Maximization-based detection of mosaicism), to analyze mosaicism in exome sequences derived primarily from blood DNA of 2530 CHD proband-parent trios. To optimize this method, we measured mosaic detection power as a function of sequencing depth. In parallel, we analyzed our cohort using MosaicHunter, a Bayesian genotyping algorithm-based mosaic detection tool, and compared the two methods. The accuracy of these mosaic variant detection algorithms was assessed using an independent resequencing method. We then applied both methods to detect mosaicism in cardiac tissue-derived exome sequences of 66 participants for which matched blood and heart tissue was available.ResultsEM-mosaic detected 326 mosaic mutations in blood and/or cardiac tissue DNA. Of the 309 detected in blood DNA, 85/97 (88%) tested were independently confirmed, while 7/17 (41%) candidates of 17 detected in cardiac tissue were confirmed. MosaicHunter detected an additional 64 mosaics, of which 23/46 (50%) among 58 candidates from blood and 4/6 (67%) of 6 candidates from cardiac tissue confirmed. Twenty-five mosaic variants altered CHD-risk genes, affecting 1% of our cohort. Of these 25, 22/22 candidates tested were confirmed. Variants predicted as damaging had higher variant allele fraction than benign variants, suggesting a role in CHD. The estimated true frequency of mosaic variants above 10% mosaicism was 0.14/person in blood and 0.21/person in cardiac tissue. Analysis of 66 individuals with matched cardiac tissue available revealed both tissue-specific and shared mosaicism, with shared mosaics generally having higher allele fraction.ConclusionsWe estimate that ~ 1% of CHD probands have a mosaic variant detectable in blood that could contribute to cardiac malformations, particularly those damaging variants with relatively higher allele fraction. Although blood is a readily available DNA source, cardiac tissues analyzed contributed ~ 5% of somatic mosaic variants identified, indicating the value of tissue mosaicism analyses
Hypertrophic cardiomyopathy in myosin-binding protein C (MYBPC3) Icelandic founder mutation carriers
Objective: The myosin-binding protein C (MYBPC3) c.927-2A>G founder mutation accounts for >90% of sarcomeric hypertrophic cardiomyopathy (HCM) in Iceland. This cross-sectional observational study explored the penetrance and phenotypic burden among
carriers of this single, prevalent founder mutation.
Methods: We studied 60 probands with HCM caused by MYBPC3 c.927-2A>G and 225 first-degree relatives. All participants underwent comprehensive clinical evaluation and relatives were genotyped.
Results: Genetic and clinical evaluation of relatives identified 49 genotype-positive (G+) relatives with left ventricular hypertrophy (G+/LVH+), 59 G+without LVH (G+/LVH−) and 117 genotype-negative relatives (unaffected). Compared with HCM probands, G+/
LVH+ relatives were older at HCM diagnosis, had less LVH, a less prevalent diastolic dysfunction, fewer ECG abnormalities, lower serum N-terminal pro-B-type natriuretic peptide (NT-proBNP) and high-sensitivity cardiac troponin I levels, and fewer symptoms. The penetrance of HCM was influenced by age and sex; specifically, LVH was present in 39%
of G+males but only 9% of G+females under age 40 years (p=0.015), versus 86% and 83%, respectively, after age 60 (p=0.89). G+/LVH− subjects had normal wall thicknesses, diastolic function and NT-proBNP levels, but subtle changes in LV geometry and more ECG
abnormalities than their unaffected relatives.
Conclusions: Phenotypic expression of the Icelandic MYBPC3 founder mutation varies by age, sex and proband status. Men are more likely to have LVH at a younger age, and disease manifestations were more prominent in probands than in relatives identified via
family screening. G+/LVH− individuals had subtle clinical differences from unaffected relatives well into adulthood, indicating subclinical phenotypic expression of the pathogenic mutation
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Investigating the impact of poverty on colonization and infection with drug-resistant organisms in humans: a systematic review
Background
Poverty increases the risk of contracting infectious diseases and therefore exposure to antibiotics. Yet there is lacking evidence on the relationship between income and non-income dimensions of poverty and antimicrobial resistance. Investigating such relationship would strengthen antimicrobial stewardship interventions.
Methods
A systematic review was conducted following Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. PubMed, Ovid, MEDLINE, EMBASE, Scopus, CINAHL, PsychINFO, EBSCO, HMIC, and Web of Science databases were searched in October 2016. Prospective and retrospective studies reporting on income or non-income dimensions of poverty and their influence on colonisation or infection with antimicrobial-resistant organisms were retrieved. Study quality was assessed with the Integrated quality criteria for review of multiple study designs (ICROMS) tool.
Results
Nineteen articles were reviewed. Crowding and homelessness were associated with antimicrobial resistance in community and hospital patients. In high-income countries, low income was associated with Streptococcus pneumoniae and Acinetobacter baumannii resistance and a seven-fold higher infection rate. In low-income countries the findings on this relation were contradictory. Lack of education was linked to resistant S. pneumoniae and Escherichia coli. Two papers explored the relation between water and sanitation and antimicrobial resistance in low-income settings.
Conclusions
Despite methodological limitations, the results suggest that addressing social determinants of poverty worldwide remains a crucial yet neglected step towards preventing antimicrobial resistance
Robust identification of deletions in exome and genome sequence data based on clustering of Mendelian errors
Multiple tools have been developed to identify copy number variants (CNVs) from whole exome (WES) and whole genome sequencing (WGS) data. Current tools such as XHMM for WES and CNVnator for WGS identify CNVs based on changes in read depth. For WGS, other methods to identify CNVs include utilizing discordant read pairs and split reads and genome-wide local assembly with tools such as Lumpy and SvABA, respectively. Here, we introduce a new method to identify deletion CNVs from WES and WGS trio data based on the clustering of Mendelian errors (MEs). Using our Mendelian Error Method (MEM), we identified 127 deletions (inherited and de novo) in 2,601 WES trios from the Pediatric Cardiac Genomics Consortium, with a validation rate of 88% by digital droplet PCR. MEM identified additional de novo deletions compared with XHMM, and a significant enrichment of 15q11.2 deletions compared with controls. In addition, MEM identified eight cases of uniparental disomy, sample switches, and DNA contamination. We applied MEM to WGS data from the Genome In A Bottle Ashkenazi trio and identified deletions with 97% specificity. MEM provides a robust, computationally inexpensive method for identifying deletions, and an orthogonal approach for verifying deletions called by other tools
Worldwide food recall patterns over an eleven month period: A country perspective.
<p>Abstract</p> <p>Background</p> <p>Following the World Health Organization Forum in November 2007, the Beijing Declaration recognized the importance of food safety along with the rights of all individuals to a safe and adequate diet. The aim of this study is to retrospectively analyze the patterns in food alert and recall by countries to identify the principal hazard generators and gatekeepers of food safety in the eleven months leading up to the Declaration.</p> <p>Methods</p> <p>The food recall data set was collected by the Laboratory of the Government Chemist (LGC, UK) over the period from January to November 2007. Statistics were computed with the focus reporting patterns by the 117 countries. The complexity of the recorded interrelations was depicted as a network constructed from structural properties contained in the data. The analysed network properties included degrees, weighted degrees, modularity and <it>k</it>-core decomposition. Network analyses of the reports, based on 'country making report' (<it>detector</it>) and 'country reported on' (<it>transgressor</it>), revealed that the network is organized around a dominant core.</p> <p>Results</p> <p>Ten countries were reported for sixty per cent of all faulty products marketed, with the top 5 countries having received between 100 to 281 reports. Further analysis of the dominant core revealed that out of the top five transgressors three made no reports (in the order China > Turkey > Iran). The top ten detectors account for three quarters of reports with three > 300 (Italy: 406, Germany: 340, United Kingdom: 322).</p> <p>Conclusion</p> <p>Of the 117 countries studied, the vast majority of food reports are made by 10 countries, with EU countries predominating. The majority of the faulty foodstuffs originate in ten countries with four major producers making no reports. This pattern is very distant from that proposed by the Beijing Declaration which urges all countries to take responsibility for the provision of safe and adequate diets for their nationals.</p
Realizing the Heteromorphic Superlattice: Repeated Heterolayers of Amorphous Insulator and Polycrystalline Semiconductor with Minimal Interface Defects
An Unconventional Heteromorphic Superlattice (HSL) is Realized, Comprised of Repeated Layers of Different Materials with Differing Morphologies: Semiconducting Pc-In2O3 Layers Interleaved with Insulating A-MoO3 Layers. Originally Proposed by Tsu in 1989, Yet Never Fully Realized, the High Quality of the HSL Heterostructure Demonstrated Here Validates the Intuition of Tsu, Whereby the Flexibility of the Bond Angle in the Amorphous Phase and the Passivation Effect of the Oxide at Interfacial Bonds Serve to Create Smooth, High-Mobility Interfaces. the Alternating Amorphous Layers Prevent Strain Accumulation in the Polycrystalline Layers While Suppressing Defect Propagation Across the HSL. for the HSL with 7:7 Nm Layer Thickness, the Observed Electron Mobility of 71 Cm2 Vs-1, Matches that of the Highest Quality In2O3 Thin Films. the Atomic Structure and Electronic Properties of Crystalline In2O3/amorphous MoO3 Interfaces Are Verified using Ab-Initio Molecular Dynamics Simulations and Hybrid Functional Calculations. This Work Generalizes the Superlattice Concept to an Entirely New Paradigm of Morphological Combinations
Gendered Representations of Male and Female Social Actors in Iranian Educational Materials
This research investigates the representations of gendered social actors within the subversionary discourse of equal educational opportunities for males and females in Iranian English as a Foreign Language (EFL) books. Using critical discourse analysis (CDA) as the theoretical framework, the authors blend van Leeuwen’s (Texts and practices: Readings in critical discourse analysis, Routledge, London, 2003) ‘Social Actor Network Model’ and Sunderland’s (Gendered discourses, Palgrave Macmillan, Hampshire, 2004) ‘Gendered Discourses Model’ in order to examine the depictions of male and female social actors within this gendered discourse. The gendered discourse of equal opportunities was buttressed by such representations within a tight perspective in proportion to gender ideologies prevailing in Iran. Resorting to CDA, we can claim that resistance against such gendered discourse in Iranian EFL textbooks militates against such gender norms. These representations of male and female social actors in school books are indicative of an all-encompassing education, reinforcing that the discourse of equal opportunities is yet to be realized in the education system of Iran
Erratum to: Specificity of incident diagnostic outcomes in patients at clinical high risk for psychosis
© The Author(s) 2018. Published by Oxford University Press on behalf of the Maryland Psychiatric Research Center. All rights reserved. An error in statistical syntax defining baseline disorder led to misidentification of baseline anxiety disorder in five cases in one of the two reported samples (PREDICT). NAPLS-1 data and previous publications of PREDICT data were not affected. The error affected rows in Table 1 labeled \u27DSM-IV anxiety\u27 and \u27Any mood/anx disorder\u27 and rows in Table 3 labeled \u27Baseline Anxiety Excluded\u27 and \u27Any Baseline Mood/ Anxiety Excluded.\u27 Corrected Tables are shown below with corrected numbers in bold. Tables S1-S5 in the data supplement were also affected. Note that the online paper has also been replaced. The abstract is unchanged, and overall findings and conclusions are not affected. One paragraph in the Results describing supplementary tables 1 and 2 is slightly changed (changes in bold): Sensitivity analyses showed that the CHR vs HSC difference for incident psychosis continued to hold whether analyses included or excluded subjects with each or any baseline disorder from the model (all p\u27s = 0.001, Table S1). Similarly, the lack of CHR vs HSC differences for incident nonpsychotic disorders also continued to hold whether models included subjects with baseline disorder (as non-cases of emergent disorder) or excluded them (all p\u27s = 0.390, Table S2). We regret the error
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