Understanding behaviour change in context: examining the role of midstream social marketing programmes

This research examines how midstream social marketing programmes that adopt a relational and community-based approach create opportunities for individuals to make incremental changes to health behaviour. Specifically, it applies Bourdieusian theory to explore how interactions between community healthcare workers (CHWs) and members of the public generate impetus for change and foster individual agency for improved health. Qualitative interviews were carried out with members of the public and CHWs engaged in a Smokefree homes and cars initiative. The findings suggest that although CHWs are challenged by resource constraints, their practices in working with individuals and families build trust and enable dialogue that bridges smoking-related health insight with home logics. These interactions can promote individual agency with a transformative effect through small changes to smoking-related dispositions, norms and practices. However, tensions with the habitus of other household members and other capital deficits can inhibit progress towards embedding new practices. The study concludes that interventions built upon community relationships show potential for addressing limitations of information-focused campaigns but there is a need to also respond to key social structures relating to the field of action for new health dispositions to become embedded in practice

Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.

BACKGROUND: In 1993, Chitayat et al., reported a newborn with hyperphalangism, facial anomalies, and bronchomalacia. We identified three additional families with similar findings. Features include bilateral accessory phalanx resulting in shortened index fingers; hallux valgus; distinctive face; respiratory compromise. OBJECTIVES: To identify the genetic aetiology of Chitayat syndrome and identify a unifying cause for this specific form of hyperphalangism. METHODS: Through ongoing collaboration, we had collected patients with strikingly-similar phenotype. Trio-based exome sequencing was first performed in Patient 2 through Deciphering Developmental Disorders study. Proband-only exome sequencing had previously been independently performed in Patient 4. Following identification of a candidate gene variant in Patient 2, the same variant was subsequently confirmed from exome data in Patient 4. Sanger sequencing was used to validate this variant in Patients 1, 3; confirm paternal inheritance in Patient 5. RESULTS: A recurrent, novel variant NM_006494.2:c.266A>G p.(Tyr89Cys) in ERF was identified in five affected individuals: de novo (patient 1, 2 and 3) and inherited from an affected father (patient 4 and 5). p.Tyr89Cys is an aromatic polar neutral to polar neutral amino acid substitution, at a highly conserved position and lies within the functionally important ETS-domain of the protein. The recurrent ERF c.266A>C p.(Tyr89Cys) variant causes Chitayat syndrome. DISCUSSION: ERF variants have previously been associated with complex craniosynostosis. In contrast, none of the patients with the c.266A>G p.(Tyr89Cys) variant have craniosynostosis. CONCLUSIONS: We report the molecular aetiology of Chitayat syndrome and discuss potential mechanisms for this distinctive phenotype associated with the p.Tyr89Cys substitution in ERF

A survey of cross-layer power-reliability tradeoffs in multi and many core systems-on-chip

As systems-on-chip increase in complexity, the underlying technology presents us with significant challenges due to increased power consumption as well as decreased reliability. Today, designers must consider building systems that achieve the requisite functionality and performance using components that may be unreliable. In order to do so, it is crucial to understand the close interplay between the different layers of a system: technology, platform, and application. This will enable the most general tradeoff exploration, reaping the most benefits in power, performance and reliability. This paper surveys various cross layer techniques and approaches for power, performance, and reliability tradeoffs are technology, circuit, architecture and application layers. © 2013 Elsevier B.V. All rights reserved

The genetic architecture of the human cerebral cortex

INTRODUCTION The cerebral cortex underlies our complex cognitive capabilities. Variations in human cortical surface area and thickness are associated with neurological, psychological, and behavioral traits and can be measured in vivo by magnetic resonance imaging (MRI). Studies in model organisms have identified genes that influence cortical structure, but little is known about common genetic variants that affect human cortical structure. RATIONALE To identify genetic variants associated with human cortical structure at both global and regional levels, we conducted a genome-wide association meta-analysis of brain MRI data from 51,665 individuals across 60 cohorts. We analyzed the surface area and average thickness of the whole cortex and 34 cortical regions with known functional specializations. RESULTS We identified 306 nominally genome-wide significant loci (P < 5 × 10−8) associated with cortical structure in a discovery sample of 33,992 participants of European ancestry. Of the 299 loci for which replication data were available, 241 loci influencing surface area and 14 influencing thickness remained significant after replication, with 199 loci passing multiple testing correction (P < 8.3 × 10−10; 187 influencing surface area and 12 influencing thickness). Common genetic variants explained 34% (SE = 3%) of the variation in total surface area and 26% (SE = 2%) in average thickness; surface area and thickness showed a negative genetic correlation (rG = −0.32, SE = 0.05, P = 6.5 × 10−12), which suggests that genetic influences have opposing effects on surface area and thickness. Bioinformatic analyses showed that total surface area is influenced by genetic variants that alter gene regulatory activity in neural progenitor cells during fetal development. By contrast, average thickness is influenced by active regulatory elements in adult brain samples, which may reflect processes that occur after mid-fetal development, such as myelination, branching, or pruning. When considered together, these results support the radial unit hypothesis that different developmental mechanisms promote surface area expansion and increases in thickness. To identify specific genetic influences on individual cortical regions, we controlled for global measures (total surface area or average thickness) in the regional analyses. After multiple testing correction, we identified 175 loci that influence regional surface area and 10 that influence regional thickness. Loci that affect regional surface area cluster near genes involved in the Wnt signaling pathway, which is known to influence areal identity. We observed significant positive genetic correlations and evidence of bidirectional causation of total surface area with both general cognitive functioning and educational attainment. We found additional positive genetic correlations between total surface area and Parkinson’s disease but did not find evidence of causation. Negative genetic correlations were evident between total surface area and insomnia, attention deficit hyperactivity disorder, depressive symptoms, major depressive disorder, and neuroticism. CONCLUSION This large-scale collaborative work enhances our understanding of the genetic architecture of the human cerebral cortex and its regional patterning. The highly polygenic architecture of the cortex suggests that distinct genes are involved in the development of specific cortical areas. Moreover, we find evidence that brain structure is a key phenotype along the causal pathway that leads from genetic variation to differences in general cognitive function

Reproducibility in the absence of selective reporting : An illustration from large-scale brain asymmetry research

Altres ajuts: Max Planck Society (Germany).The problem of poor reproducibility of scientific findings has received much attention over recent years, in a variety of fields including psychology and neuroscience. The problem has been partly attributed to publication bias and unwanted practices such as p-hacking. Low statistical power in individual studies is also understood to be an important factor. In a recent multisite collaborative study, we mapped brain anatomical left-right asymmetries for regional measures of surface area and cortical thickness, in 99 MRI datasets from around the world, for a total of over 17,000 participants. In the present study, we revisited these hemispheric effects from the perspective of reproducibility. Within each dataset, we considered that an effect had been reproduced when it matched the meta-analytic effect from the 98 other datasets, in terms of effect direction and significance threshold. In this sense, the results within each dataset were viewed as coming from separate studies in an "ideal publishing environment," that is, free from selective reporting and p hacking. We found an average reproducibility rate of 63.2% (SD = 22.9%, min = 22.2%, max = 97.0%). As expected, reproducibility was higher for larger effects and in larger datasets. Reproducibility was not obviously related to the age of participants, scanner field strength, FreeSurfer software version, cortical regional measurement reliability, or regional size. These findings constitute an empirical illustration of reproducibility in the absence of publication bias or p hacking, when assessing realistic biological effects in heterogeneous neuroscience data, and given typically-used sample sizes

Family Relations in Lisbon's Business Elite

High status groups in Portuguese society constitute a social context in which familial relations are of great importance, both at the level of family members' daily agency and on the far broader scale of their social and professional relations. The author analyses in this article the way familial relations become important processes by which an elite social position may be maintained. The argument is based on fieldwork carried out by the author on seven leading business families in Lisbon who own large firms in operation for at least three generations. This research has showed that the processes by which these families manage to remain majority shareholders and in the top management position in the large companies they have owned for several generations is due, to a great extent, to the fact that these economic investments are considered the symbolic materialisation of a familial project. It is by means of carefully managing familial relations that those involved in these projects are able to ensure and reproduce their belonging to Portugal's financial and social upper set. This argument is illustrated throughout my research into the processes by which the leading families in Portugal's economic setting before the democratic revolution in 1974 have recovered their top financial and social positions in Portugal today

Analytical modelling of Kirschner wires in Ilizarov circular external fixator as pretensioned slender beams

Transfixing thin Kirschner wires (K-wires) are the key components of the Ilizarov fixator regarding its axial stiffness, which affects the mechanobiological environment in which bone is healed. Mechanically speaking, K-wires are slender beams that are axially tensioned, then fixed and transversely loaded. The existing solutions to such a problem either do not accommodate any axial loading prior to transverse loading, or do not account for the change in the axial load (reaction) due to transverse loading. Their applicability is also limited vis-à-vis applied loads and beam dimensions. This work seeks to address those problems by providing a mathematical formulation for a pretensioned slender beam that accounts for the change in the beam tension due to lateral loading. Central loading of a pretensioned beam was studied and new polynomial equations have been derived, the roots of which yield the final tension for a (i) long, slender and heavily loaded beam and (ii) relatively thicker beam subjected to a lower load. Results were produced and discussed for the specific application of pretensioned K-wires in circular (ring) external fixators in orthopaedics (such as Ilizarov's), which were checked (validated) via two- and three-dimensional finite-element analyses