42 research outputs found

    Giving an Account of One’s Pain in the Anthropological Interview

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    In this paper, I analyze the illness stories narrated by a mother and her 13-year-old son as part of an ethnographic study of child chronic pain sufferers and their families. In examining some of the moral, relational and communicative challenges of giving an account of one’s pain, I focus on what is left out of some accounts of illness and suffering and explore some possible reasons for these elisions. Drawing on recent work by Judith Butler (Giving an Account of Oneself, 2005), I investigate how the pragmatic context of interviews can introduce a form of symbolic violence to narrative accounts. Specifically, I use the term “genre of complaint” to highlight how anthropological research interviews in biomedical settings invoke certain typified forms of suffering that call for the rectification of perceived injustices. Interview narratives articulated in the genre of complaint privilege specific types of pain and suffering and cast others into the background. Giving an account of one’s pain is thus a strategic and selective process, creating interruptions and silences as much as moments of clarity. Therefore, I argue that medical anthropologists ought to attend more closely to the institutional structures and relations that shape the production of illness narratives in interview encounters

    Seeding Science, Courting Conclusions: Reexamining the Intersection of Science, Corporate Cash, and the Law

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    Social scientists have expressed strong views on corporate influences over science, but most attention has been devoted to broad, Black/White arguments, rather than to actual mechanisms of influence. This paper summarizes an experience where involvement in a lawsuit led to the discovery of an unexpected mechanism: A large corporation facing a multibillion-dollar court judgment quietly provided generous funding to well-known scientists (including at least one Nobel prize winner) who would submit articles to "open," peer-reviewed journals, so that their "unbiased science" could be cited in an appeal to the Supreme Court. On balance, the corporation's most effective techniques of influence may have been provided not by overt pressure, but by encouraging scientists to continue thinking of themselves as independent and impartial

    Identification of common genetic risk variants for autism spectrum disorder

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    Autism spectrum disorder (ASD) is a highly heritable and heterogeneous group of neurodevelopmental phenotypes diagnosed in more than 1% of children. Common genetic variants contribute substantially to ASD susceptibility, but to date no individual variants have been robustly associated with ASD. With a marked sample-size increase from a unique Danish population resource, we report a genome-wide association meta-analysis of 18,381 individuals with ASD and 27,969 controls that identified five genome-wide-significant loci. Leveraging GWAS results from three phenotypes with significantly overlapping genetic architectures (schizophrenia, major depression, and educational attainment), we identified seven additional loci shared with other traits at equally strict significance levels. Dissecting the polygenic architecture, we found both quantitative and qualitative polygenic heterogeneity across ASD subtypes. These results highlight biological insights, particularly relating to neuronal function and corticogenesis, and establish that GWAS performed at scale will be much more productive in the near term in ASD

    Genomic analysis of male puberty timing highlights shared genetic basis with hair colour and lifespan

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    Abstract: The timing of puberty is highly variable and is associated with long-term health outcomes. To date, understanding of the genetic control of puberty timing is based largely on studies in women. Here, we report a multi-trait genome-wide association study for male puberty timing with an effective sample size of 205,354 men. We find moderately strong genomic correlation in puberty timing between sexes (rg = 0.68) and identify 76 independent signals for male puberty timing. Implicated mechanisms include an unexpected link between puberty timing and natural hair colour, possibly reflecting common effects of pituitary hormones on puberty and pigmentation. Earlier male puberty timing is genetically correlated with several adverse health outcomes and Mendelian randomization analyses show a genetic association between male puberty timing and shorter lifespan. These findings highlight the relationships between puberty timing and health outcomes, and demonstrate the value of genetic studies of puberty timing in both sexes

    Association of whole-genome and NETRIN1 signaling pathway-derived polygenic risk scores for Major Depressive Disorder and white matter microstructure in UK Biobank

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    Background: Major depressive disorder is a clinically heterogeneous psychiatric disorder with a polygenic architecture. Genome-wide association studies have identified a number of risk-associated variants across the genome and have reported growing evidence of NETRIN1 pathway involvement. Stratifying disease risk by genetic variation within the NETRIN1 pathway may provide important routes for identification of disease mechanisms by focusing on a specific process, excluding heterogeneous risk-associated variation in other pathways. Here, we sought to investigate whether major depressive disorder polygenic risk scores derived from the NETRIN1 signaling pathway (NETRIN1-PRSs) and the whole genome, excluding NETRIN1 pathway genes (genomic-PRSs), were associated with white matter microstructure. Methods: We used two diffusion tensor imaging measures, fractional anisotropy (FA) and mean diffusivity (MD), in the most up-to-date UK Biobank neuroimaging data release (FA: n = 6401; MD: n = 6390). Results: We found significantly lower FA in the superior longitudinal fasciculus (β = −.035, p =.029) and significantly higher MD in a global measure of thalamic radiations (β =.029, p =.021), as well as higher MD in the superior (β =.034, p =.039) and inferior (β =.029, p =.043) longitudinal fasciculus and in the anterior (β =.025, p =.046) and superior (β =.027, p =.043) thalamic radiation associated with NETRIN1-PRS. Genomic-PRS was also associated with lower FA and higher MD in several tracts. Conclusions: Our findings indicate that variation in the NETRIN1 signaling pathway may confer risk for major depressive disorder through effects on a number of white matter tracts

    Physiologic subperiosteal new bone formation: prevalence, distribution, and thickness in neonates and infants

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    OBJECTIVE: The objective of our study was to determine the prevalence, distribution, and thickness of physiologic subperiosteal new bone formation in neonates and infants. MATERIALS AND METHODS: High-detail postmortem skeletal radiologic surveys of 101 neonates and infants who had died from sudden infant death syndrome were reviewed. The average age at the time of death was 2.6 months (range, 2 weeks-8 months 2 weeks). The location, distribution, and thickness of subperiosteal new bone formation of the long bones were noted and measured with an ocular magnification system. RESULTS: subperiosteal new bone formation was identified in 35 infants (35%), all of whom were between 1 and 4 months of age. The prevalence of subperiosteal new bone formation involving one or more bones was 37% for ages 1-2 months, 55% for ages 2-3 months, and 35% for ages 3-4 months. subperiosteal new bone formation involved the tibia in 29 infants (bilateral involvement in 19) and the femurs in 14 infants (bilateral involvement in 11). The humerus was a site of subperiosteal new bone formation in 12 infants; the ulna, in seven infants; and the radius, in two infants. The thickness of the subperiosteal new bone formation was never more than 1.8 mm, and the average thickness for the various long bones ranged from 0.7 to 0.9 mm. CONCLUSION: Our results suggest that subperiosteal new bone formation is a common finding in infants 1-4 months of age. It is potentially an abnormal finding in neonates (CI = 0.0, 0.007) and in infants older than 4 months of age (CI = 0.0, 0.003). A thickness of 2 mm or more in subperiosteal new bone formation is likely to be abnormal and should prompt further diagnostic evaluation
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