Lasting impressions: ethnic food tour guides, body work, race and gender in southwestern Sydney, Australia

In this paper we examine the racialized and gendered body work required of guides leading ethnic food tours in southwestern Sydney, Australia. We draw on theorists who examine the materialization of race and bodies to extend concepts of intimacy, vulnerability and proximity: dominant themes in studies of occupations involving ‘body work’. To date, very few studies of tour guides have examined the embodied interactions required by the work of guides. Using Ahmed's concepts of inter–embodiment and impressions, we stress that racialized bodies need to be understood as materializing in body work. In particular, we show how body work on the tours includes smiling, vocalization and shepherding and can be understood as contact with the Other. Our paper contributes to the literature on bodily interactions at work in three core ways: first, adding original empirical work on ethnic tour guiding, second, by showing how ‘body work’ is racialized and gendered, and finally, by exploring the relations between food and multicultural intimacies and the vulnerabilities of racialized bodies

Social workers' attitudes towards female victims of domestic violence: A study in one English local authority

This paper aims to explore childcare social workers' attitudes towards female victims of domestic violence in England. The study discusses the concept of “mothering” and the processes through which mothers are potentially denigrated rather than empowered. Semi‐structured interviews were conducted with social workers in a single child protection agency to investigate their perceptions of domestic violence, its gendered nature, and the implications for their practice. Participants' responses were coded using thematic analysis. The results demonstrated social workers' cognisance of the challenges domestic violence poses for abused mothers in terms of the ability to safely parent their children. Although the study is not without its limitations, it nevertheless indicates the need for a more holistic approach to safeguarding children within domestic violence settings. Moreover, it underscores the necessity for improving awareness about the prevalence and importance of domestic violence as a child safeguarding concern within social work training. Indeed, improved training would help to develop social workers' knowledge and understanding of service provisions and partner agencies, thus potentially improving practice in this critically important area

Gestating bodies: sensing foetal movement in first-time pregnancy

A large body of literature engages with personal accounts of pregnancy to illustrate the subjugation of women's embodied experience by practices of biomedicine. This article explores this issue through women's accounts of sensing initial foetal movement, drawn from qualitative interviews with 15 women resident in the UK. Participants depict this aspect of pregnant embodiment as ambiguous and indefinite, in contrast to clinical and popular representations of foetal movement. In highlighting the uncertainties characteristic of this corporeal event, the article adds to literature destabilising understandings of pregnant women's and foetal bodies as bounded and distinct. Ambiguous experiences of foetal movement arise in the context of sociocultural framings of pregnancy as ‘at risk’, and in turn, may be seen to contribute to these representations, with some participants articulating that uncertain sensations could provoke anxiety. In this article, perceptions of foetal movement are emphasised as valuable to women, and as inextricable from the social settings in which they emerge. This research has implications for sociological and feminist discussions of pregnancy, and work exploring the mutual shaping of corporeality and sociocultural contexts more widely

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension.

BACKGROUND: Pulmonary arterial hypertension (PAH) is a rare disease with an emerging genetic basis. Heterozygous mutations in the gene encoding the bone morphogenetic protein receptor type 2 (BMPR2) are the commonest genetic cause of PAH, whereas biallelic mutations in the eukaryotic translation initiation factor 2 alpha kinase 4 gene (EIF2AK4) are described in pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Here, we determine the frequency of these mutations and define the genotype-phenotype characteristics in a large cohort of patients diagnosed clinically with PAH. METHODS: Whole-genome sequencing was performed on DNA from patients with idiopathic and heritable PAH and with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis recruited to the National Institute of Health Research BioResource-Rare Diseases study. Heterozygous variants in BMPR2 and biallelic EIF2AK4 variants with a minor allele frequency of <1:10 000 in control data sets and predicted to be deleterious (by combined annotation-dependent depletion, PolyPhen-2, and sorting intolerant from tolerant predictions) were identified as potentially causal. Phenotype data from the time of diagnosis were also captured. RESULTS: Eight hundred sixty-four patients with idiopathic or heritable PAH and 16 with pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis were recruited. Mutations in BMPR2 were identified in 130 patients (14.8%). Biallelic mutations in EIF2AK4 were identified in 5 patients with a clinical diagnosis of pulmonary veno-occlusive disease/pulmonary capillary hemangiomatosis. Furthermore, 9 patients with a clinical diagnosis of PAH carried biallelic EIF2AK4 mutations. These patients had a reduced transfer coefficient for carbon monoxide (Kco; 33% [interquartile range, 30%-35%] predicted) and younger age at diagnosis (29 years; interquartile range, 23-38 years) and more interlobular septal thickening and mediastinal lymphadenopathy on computed tomography of the chest compared with patients with PAH without EIF2AK4 mutations. However, radiological assessment alone could not accurately identify biallelic EIF2AK4 mutation carriers. Patients with PAH with biallelic EIF2AK4 mutations had a shorter survival. CONCLUSIONS: Biallelic EIF2AK4 mutations are found in patients classified clinically as having idiopathic and heritable PAH. These patients cannot be identified reliably by computed tomography, but a low Kco and a young age at diagnosis suggests the underlying molecular diagnosis. Genetic testing can identify these misclassified patients, allowing appropriate management and early referral for lung transplantation

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Next-generation sequencing has been invaluable in the elucidation of the genetic etiology of many subtypes of intellectual disability in recent years. Here, using exome sequencing and whole-genome sequencing, we identified three de novo truncating mutations in WAS protein family member 1 (WASF1) in five unrelated individuals with moderate to profound intellectual disability with autistic features and seizures. WASF1, also known as WAVE1, is part of the WAVE complex and acts as a mediator between Rac-GTPase and actin to induce actin polymerization. The three mutations connected by Matchmaker Exchange were c.1516C>T (p.Arg506Ter), which occurs in three unrelated individuals, c.1558C>T (p.Gln520Ter), and c.1482delinsGCCAGG (p.Ile494MetfsTer23). All three variants are predicted to partially or fully disrupt the C-terminal actin-binding WCA domain. Functional studies using fibroblast cells from two affected individuals with the c.1516C>T mutation showed a truncated WASF1 and a defect in actin remodeling. This study provides evidence that de novo heterozygous mutations in WASF1 cause a rare form of intellectual disability

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

Inherited retinal disease is a common cause of visual impairment and represents a highly heterogeneous group of conditions. Here, we present findings from a cohort of 722 individuals with inherited retinal disease, who have had whole-genome sequencing (n = 605), whole-exome sequencing (n = 72), or both (n = 45) performed, as part of the NIHR-BioResource Rare Diseases research study. We identified pathogenic variants (single-nucleotide variants, indels, or structural variants) for 404/722 (56%) individuals. Whole-genome sequencing gives unprecedented power to detect three categories of pathogenic variants in particular: structural variants, variants in GC-rich regions, which have significantly improved coverage compared to whole-exome sequencing, and variants in non-coding regulatory regions. In addition to previously reported pathogenic regulatory variants, we have identified a previously unreported pathogenic intronic variant in $\textit{CHM}$ in two males with choroideremia. We have also identified 19 genes not previously known to be associated with inherited retinal disease, which harbor biallelic predicted protein-truncating variants in unsolved cases. Whole-genome sequencing is an increasingly important comprehensive method with which to investigate the genetic causes of inherited retinal disease.This work was supported by The National Institute for Health Research England (NIHR) for the NIHR BioResource – Rare Diseases project (grant number RG65966). The Moorfields Eye Hospital cohort of patients and clinical and imaging data were ascertained and collected with the support of grants from the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital, National Health Service Foundation Trust, and UCL Institute of Ophthalmology, Moorfields Eye Hospital Special Trustees, Moorfields Eye Charity, the Foundation Fighting Blindness (USA), and Retinitis Pigmentosa Fighting Blindness. M.M. is a recipient of an FFB Career Development Award. E.M. is supported by UCLH/UCL NIHR Biomedical Research Centre. F.L.R. and D.G. are supported by Cambridge NIHR Biomedical Research Centre