66 research outputs found

    Young people’s perceptions of visible difference

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    Visible facial differences (VFDs) can pose a number of psychosocial challenges for those affected by them. In particular, the experience of being stigmatised may have a harmful effect on the psychological adjustment of the individual concerned. This is especially pertinent for young people, who are at an age where appearance becomes increasingly central to social interaction and self-esteem. Suitable and effective interventions are needed to reduce stigma in general, but in the case of appearance-relateddiscrimination the prevalence and the processes involved are poorly understood. The aim of this research was therefore to explore young people’s perceptions of visible difference.A mixed-methods online questionnaire was administered to a cross-sectional sample of 412 pupils aged 12–14 years, recruited from three UK schools. Participants were asked to look at five photographs of people with VFDs and to indicate their level of agreement with 30 statements using a 5-point Likert scale. They were also asked to answer the open-ended question ‘What do you think when you see people with facial differences?’ Although quantitative responses were overwhelmingly neutral, inductive content analysis revealed a number of insights. Four main themes were identified: them and us, initial reactions, common assumptions and behavioural intentions. Participants reported a wide range of complex responses. Although negative reactions and judgements were described, these were often due to seeing something unusual, or to a lack of understanding, rather than to the intention to cause harm. Conflicting emotions led to uncertainty and lack of confidence about how best to behave around peoplewith VFDs. The findings suggest the need for a two tieredapproach to intervention: first, to raise awareness of VFDs and to facilitate the development of appropriate social skills within the general population, and secondly, to provide support to enable those with VFDs to cope with any negative reactions they may encounter

    RANK signals from CD4+3− inducer cells regulate development of Aire-expressing epithelial cells in the thymic medulla

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    Aire-expressing medullary thymic epithelial cells (mTECs) play a key role in preventing autoimmunity by expressing tissue-restricted antigens to help purge the emerging T cell receptor repertoire of self-reactive specificities. Here we demonstrate a novel role for a CD4+3− inducer cell population, previously linked to development of organized secondary lymphoid structures and maintenance of T cell memory in the functional regulation of Aire-mediated promiscuous gene expression in the thymus. CD4+3− cells are closely associated with mTECs in adult thymus, and in fetal thymus their appearance is temporally linked with the appearance of Aire+ mTECs. We show that RANKL signals from this cell promote the maturation of RANK-expressing CD80−Aire− mTEC progenitors into CD80+Aire+ mTECs, and that transplantation of RANK-deficient thymic stroma into immunodeficient hosts induces autoimmunity. Collectively, our data reveal cellular and molecular mechanisms leading to the generation of Aire+ mTECs and highlight a previously unrecognized role for CD4+3−RANKL+ inducer cells in intrathymic self-tolerance

    Missed opportunities for diagnosing brain tumours in primary care: a qualitative study of patient experiences.

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    BACKGROUND: Brain tumours are uncommon, and have extremely poor outcomes. Patients and GPs may find it difficult to recognise early symptoms because they are often non-specific and more likely due to other conditions. AIM: To explore patients' experiences of symptom appraisal, help seeking, and routes to diagnosis. DESIGN AND SETTING: Qualitative study set in the East and North West of England. METHOD: In-depth interviews with adult patients recently diagnosed with a primary brain tumour and their family members were analysed thematically, using the Model of Pathways to Treatment as a conceptual framework. RESULTS: Interviews were carried out with 39 patients. Few participants (n = 7; 18%) presented as an emergency without having had a previous GP consultation; most had had one (n = 15; 38%), two (n = 9; 23%), or more (n = 8; 21%) GP consultations. Participants experienced multiple subtle 'changes' rather than 'symptoms', often noticed by others rather than the patient, which frequently led to loss of interest or less ability to engage with daily living activities. The most common changes were in cognition (speaking, writing, comprehension, memory, concentration, and multitasking), sleep, and other 'head feelings' such as dizziness. Not all patients experienced a seizure, and few seizures were experienced 'out of the blue'. Quality of communication in GP consultations played a key role in patients' subsequent symptom appraisal and the timing of their decision to re-consult. CONCLUSION: Multiple subtle changes and frequent GP visits often precede brain tumour diagnosis, giving possible diagnostic opportunities for GPs. Refined community symptom awareness and GP guidance could enable more direct pathways to diagnosis, and potentially improve patient experiences and outcomes

    Multidisciplinary discovery of ancient restoration using a rare mud carapace on a mummified individual from late New Kingdom Egypt.

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    Funder: Rundle Foundation for Egyptian ArchaeologyCT scans of an unnamed mummified adult from Egypt, now in the Chau Chak Wing Museum, University of Sydney (NMR.27.3), reveal it to be fully sheathed in a mud shell or carapace, exposing a mortuary treatment not previously documented in the Egyptian archaeological record. The carapace was placed between layers of linen wrappings thus it was not externally visible. Radiocarbon dating of textile samples provide a range of c.1370-1113 cal BC (95.4% probability), with a median date of 1207 cal BC. When assessed against mummification techniques of the era, the individual is placed in the late 19th-20th Dynasty, at the later end of this date range. Multi-proxy analysis including μ-XRF and Raman spectroscopy of carapace fragments from the head area revealed it to consist of three layers, comprising a thin base layer of mud, coated with a white calcite-based pigment and a red-painted surface of mixed composition. Whether the whole surface of the carapace was painted red is unknown. The carapace was a form of ancient conservation applied subsequent to post-mortem damage to the body, intended to reconfigure the body and enable continued existence of the deceased in the afterlife. The carapace can also be interpreted as a form of elite emulation imitating resin shells found within the wrappings of royal bodies from this period

    Ensembl’s 10th year

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    Ensembl (http://www.ensembl.org) integrates genomic information for a comprehensive set of chordate genomes with a particular focus on resources for human, mouse, rat, zebrafish and other high-value sequenced genomes. We provide complete gene annotations for all supported species in addition to specific resources that target genome variation, function and evolution. Ensembl data is accessible in a variety of formats including via our genome browser, API and BioMart. This year marks the tenth anniversary of Ensembl and in that time the project has grown with advances in genome technology. As of release 56 (September 2009), Ensembl supports 51 species including marmoset, pig, zebra finch, lizard, gorilla and wallaby, which were added in the past year. Major additions and improvements to Ensembl since our previous report include the incorporation of the human GRCh37 assembly, enhanced visualisation and data-mining options for the Ensembl regulatory features and continued development of our software infrastructure

    Beliefs About Medication and Uptake of Preventive Therapy in Women at Increased Risk of Breast Cancer: Results From a Multicenter Prospective Study

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    Introduction Uptake of preventive therapies for breast cancer is low. We examined whether women at increased risk of breast cancer can be categorized into groups with similar medication beliefs, and whether belief group membership was prospectively associated with uptake of preventive therapy. Patients and Methods Women (n = 732) attending an appointment to discuss breast cancer risk were approached; 408 (55.7%) completed the Beliefs About Medicines and the Perceived Sensitivity to Medicines questionnaires. Uptake of tamoxifen at 3 months was reported in 258 (63.2%). The optimal number of belief groups were identified using latent profile analysis. Results Uptake of tamoxifen was 14.7% (38/258). One in 5 women (19.4%; 78/402) reported a strong need for tamoxifen. The model fit statistics supported a 2-group model. Both groups held weak beliefs about their need for tamoxifen for current and future health. Group 2 (38%; 154/406 of the sample) reported stronger concerns about tamoxifen and medicines in general, and stronger perceived sensitivity to the negative effects of medicines compared with group 1 (62%; 252/406). Women with low necessity and lower concerns (group 1) were more likely to initiate tamoxifen (18.3%; 33/180) than those with low necessity and higher concerns (group 2) (6.4%; 5/78). After adjusting for demographic and clinical factors, the odds ratio was 3.37 (95% confidence interval, 1.08-10.51; P = .036). Conclusion Uptake of breast cancer preventive therapy was low. A subgroup of women reported low need for preventive therapy and strong medication concerns. These women were less likely to initiate tamoxifen. Medication beliefs are targets for supporting informed decision-making

    Rank signaling links the development of invariant γδ T cell progenitors and Aire(+) medullary epithelium

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    The thymic medulla provides a specialized microenvironment for the negative selection of T cells, with the presence of autoimmune regulator (Aire)-expressing medullary thymic epithelial cells (mTECs) during the embryonic-neonatal period being both necessary and sufficient to establish long-lasting tolerance. Here we showed that emergence of the first cohorts of Aire(+) mTECs at this key developmental stage, prior to αβ T cell repertoire selection, was jointly directed by Rankl(+) lymphoid tissue inducer cells and invariant Vγ5(+) dendritic epidermal T cell (DETC) progenitors that are the first thymocytes to express the products of gene rearrangement. In turn, generation of Aire(+) mTECs then fostered Skint-1-dependent, but Aire-independent, DETC progenitor maturation and the emergence of an invariant DETC repertoire. Hence, our data attributed a functional importance to the temporal development of Vγ5(+) γδ T cells during thymus medulla formation for αβ T cell tolerance induction and demonstrated a Rank-mediated reciprocal link between DETC and Aire(+) mTEC maturation
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