Disability

People with disabilities (PWD) are the fastest growing minority social group in the world. Moreover, this group is one in which many, if not all individuals, will eventually join due to accidents, injuries, illnesses, wear and tear on aging bodies, and genetic factors. Disabilities can be physical, cognitive, social, and/or emotional. The disability community overlaps with people of all races, ethnicities, age groups, genders, sexual orientations/ expressions, and socioeconomic statuses, although PWD are overrepresented among people who are economically disadvantaged and under-served in health care, environmental safety, nutrition, and other basic needs. While the proportion of people with disabilities increases with age, the majority of people with disabilities remains under the age of 65

IVF So White, So Medical: Digital Normativity and Algorithm Bias in Infertility on Instagram

Increasingly, women experiencing infertility are turning online to social media platforms, like Instagram, to engage with a support network and foster empathy. However, Instagram is also noted for its augmentation of White, cis, and heteronormative femininity through a process of silencing and minoritizing alternative, non-White voices. Through an inductive analysis of the most frequently used infertility hashtags, we collected and analyzed 252 Instagram posts to investigate how these algorithmic practices may socially construct the idealized IVF experience through communicating normative expectations. We identify predominant patterns of use that reinforce stratification within infertility treatments as primarily accessible to White women and best handled through expensive, expert medical procedures. Ultimately, we argue for increased attention to how algorithms may communicatively constitute and socially construct existing health disparities

‘Where are all the men?’ A post-structural feminist analysis of a university's sexual health seminar

Set against the background of efforts to promote sexuality education and sexual health in a university setting, this paper focuses on a sexual health seminar offered at a midwestern US university. Using a post-structural feminist framework, we analysed discourses from qualitative surveys, newspaper coverage and participant observation. We argue that the framing of the seminar posed an obstacle to receiving health care, altercasted women in disempowering roles and failed to acknowledge men's voices. It is important to address entrenched gender biases, power imbalances and assumptions that undermine students' engagement with sexual health education and access to services. Based on this analysis, we developed recommendations for sexuality education of university students informed by feminist understandings of health

Beyond the research/service dichotomy: Claiming ALL research products for hiring, evaluation, tenure, and promotion.

As qualitative communication researchers, we encounter daily stories of the persistent reluctance in the academy to vaue work that steps outside of the traditional report format for hiring, evaluation, tenure, and promotion. Devalued genres include writing for the general public (e.g. op-eds, blogs), embodied performancees, reports for community organizations, and non-profit website material. Yet dismissing these other necessary creative products of our research reinforces a dichotomy between research and service. Although the former is valued almost exclusively as legitimate scholarship and its boundaries carefully patrolled, the latter is devalued and disparaged, ironically amid increased demands for such work as resources in higher education grow ever more scarce

Informing or Exploiting? Public Reponses to Giuliana Rancic’s Health Narrative

Popular entertainment journalist Giuliana Rancic has shared her struggles with pregnancy loss, infertility, and breast cancer in an array of public forums. In this study, we analyzed online comments responding to public discourses surrounding Rancic’s revelations, including her miscarriage and fertility treatments, her breast cancer diagnosis, and her decision to undergo a double mastectomy. Our goal was to explore how the public framed Rancic’s health challenges. Using a narrative lens, we argue that online comments reveal the tensions that celebrities like Rancic must manage as they contend with public scrutiny of their stories. Online commenters in this study framed Rancic’s narrative as a privileged vantage point in which she exploited her health struggles for personal and financial gain. Our analysis of these comments also demonstrates how Rancic’s narrative exists in concert with other discourses that challenge and disrupt her own account of events. The examination of these mediated discourses has implications for understanding the role of celebrity experiences in personal and public conversations about health

Models of school breakfast program implementation in Western Australia and the implications for supporting disadvantaged students

A substantial body of literature points to the educational and social benefits of school breakfast programs. Most high-income countries provide free or subsidized school breakfasts to support disadvantaged children. Australia does not have a nationally-funded school meal program. Instead, charitable organizations offer school breakfast programs on a voluntary basis, often with funding support from state/territory governments. Decisions about participating in a school breakfast program (SBP), which students to support, and the degree of integration with other strategies to support disadvantaged students are made at the school level. This large-scale, multi-year study examined models of SBP implementation in Western Australian (WA) schools and stakeholder perceptions of the impact of SBPs at the classroom and whole school level. Findings indicate that the approaches adopted by WA schools reflect the extent to which SBPs are part of an integrated approach to supporting disadvantaged students. Minimalist approaches were evident where the focus was limited to alleviating hunger. More inclusive, resource‐intensive models were apparent where the SBP was positioned within a whole school approach to student wellbeing and/or community capacity-building. All schools reported benefits for disadvantaged students, however, the social benefits of SBPs that manifested at the classroom and whole school level were more pronounced in schools that had adopted more integrated, whole school approaches. The findings have implications for Australian schools and other countries that seek to optimize the role of SBPs to provide more holistic support for vulnerable students and reduce the impact of social and economic disadvantage

Genomic Hypomethylation in the Human Germline Associates with Selective Structural Mutability in the Human Genome

The hotspots of structural polymorphisms and structural mutability in the human genome remain to be explained mechanistically. We examine associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination (NAHR) mediated by low-copy repeats (LCRs). Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability. Specifically, methylation deserts, the ∼1% fraction of the human genome with the lowest methylation in the germline, show a tenfold enrichment for structural rearrangements that occurred in the human genome since the branching of chimpanzee and are highly enriched for fast-evolving loci that regulate tissue-specific gene expression. Analysis of copy number variants (CNVs) from 400 human samples identified using a custom-designed array comparative genomic hybridization (aCGH) chip, combined with publicly available structural variation data, indicates that association of structural mutability with germline hypomethylation is comparable in magnitude to the association of structural mutability with LCR–mediated NAHR. Moreover, rare CNVs occurring in the genomes of individuals diagnosed with schizophrenia, bipolar disorder, and developmental delay and de novo CNVs occurring in those diagnosed with autism are significantly more concentrated within hypomethylated regions. These findings suggest a new connection between the epigenome, selective mutability, evolution, and human disease

Epigenome-wide meta-analysis of blood DNA methylation and its association with subcortical volumes:findings from the ENIGMA Epigenetics Working Group

DNA methylation, which is modulated by both genetic factors and environmental exposures, may offer a unique opportunity to discover novel biomarkers of disease-related brain phenotypes, even when measured in other tissues than brain, such as blood. A few studies of small sample sizes have revealed associations between blood DNA methylation and neuropsychopathology, however, large-scale epigenome-wide association studies (EWAS) are needed to investigate the utility of DNA methylation profiling as a peripheral marker for the brain. Here, in an analysis of eleven international cohorts, totalling 3337 individuals, we report epigenome-wide meta-analyses of blood DNA methylation with volumes of the hippocampus, thalamus and nucleus accumbens (NAcc)-three subcortical regions selected for their associations with disease and heritability and volumetric variability. Analyses of individual CpGs revealed genome-wide significant associations with hippocampal volume at two loci. No significant associations were found for analyses of thalamus and nucleus accumbens volumes. Cluster-based analyses revealed additional differentially methylated regions (DMRs) associated with hippocampal volume. DNA methylation at these loci affected expression of proximal genes involved in learning and memory, stem cell maintenance and differentiation, fatty acid metabolism and type-2 diabetes. These DNA methylation marks, their interaction with genetic variants and their impact on gene expression offer new insights into the relationship between epigenetic variation and brain structure and may provide the basis for biomarker discovery in neurodegeneration and neuropsychiatric conditions

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence

Intelligence is highly heritable(1) and a major determinant of human health and well-being(2). Recent genome-wide meta-analyses have identified 24 genomic loci linked to variation in intelligence3-7, but much about its genetic underpinnings remains to be discovered. Here, we present a large-scale genetic association study of intelligence (n = 269,867), identifying 205 associated genomic loci (190 new) and 1,016 genes (939 new) via positional mapping, expression quantitative trait locus (eQTL) mapping, chromatin interaction mapping, and gene-based association analysis. We find enrichment of genetic effects in conserved and coding regions and associations with 146 nonsynonymous exonic variants. Associated genes are strongly expressed in the brain, specifically in striatal medium spiny neurons and hippocampal pyramidal neurons. Gene set analyses implicate pathways related to nervous system development and synaptic structure. We confirm previous strong genetic correlations with multiple health-related outcomes, and Mendelian randomization analysis results suggest protective effects of intelligence for Alzheimer's disease and ADHD and bidirectional causation with pleiotropic effects for schizophrenia. These results are a major step forward in understanding the neurobiology of cognitive function as well as genetically related neurological and psychiatric disorders.Peer reviewe

BHPR research: qualitative1. Complex reasoning determines patients' perception of outcome following foot surgery in rheumatoid arhtritis

Background: Foot surgery is common in patients with RA but research into surgical outcomes is limited and conceptually flawed as current outcome measures lack face validity: to date no one has asked patients what is important to them. This study aimed to determine which factors are important to patients when evaluating the success of foot surgery in RA Methods: Semi structured interviews of RA patients who had undergone foot surgery were conducted and transcribed verbatim. Thematic analysis of interviews was conducted to explore issues that were important to patients. Results: 11 RA patients (9 ♂, mean age 59, dis dur = 22yrs, mean of 3 yrs post op) with mixed experiences of foot surgery were interviewed. Patients interpreted outcome in respect to a multitude of factors, frequently positive change in one aspect contrasted with negative opinions about another. Overall, four major themes emerged. Function: Functional ability & participation in valued activities were very important to patients. Walking ability was a key concern but patients interpreted levels of activity in light of other aspects of their disease, reflecting on change in functional ability more than overall level. Positive feelings of improved mobility were often moderated by negative self perception ("I mean, I still walk like a waddling duck”). Appearance: Appearance was important to almost all patients but perhaps the most complex theme of all. Physical appearance, foot shape, and footwear were closely interlinked, yet patients saw these as distinct separate concepts. Patients need to legitimize these feelings was clear and they frequently entered into a defensive repertoire ("it's not cosmetic surgery; it's something that's more important than that, you know?”). Clinician opinion: Surgeons' post operative evaluation of the procedure was very influential. The impact of this appraisal continued to affect patients' lasting impression irrespective of how the outcome compared to their initial goals ("when he'd done it ... he said that hasn't worked as good as he'd wanted to ... but the pain has gone”). Pain: Whilst pain was important to almost all patients, it appeared to be less important than the other themes. Pain was predominately raised when it influenced other themes, such as function; many still felt the need to legitimize their foot pain in order for health professionals to take it seriously ("in the end I went to my GP because it had happened a few times and I went to an orthopaedic surgeon who was quite dismissive of it, it was like what are you complaining about”). Conclusions: Patients interpret the outcome of foot surgery using a multitude of interrelated factors, particularly functional ability, appearance and surgeons' appraisal of the procedure. While pain was often noted, this appeared less important than other factors in the overall outcome of the surgery. Future research into foot surgery should incorporate the complexity of how patients determine their outcome Disclosure statement: All authors have declared no conflicts of interes