159 research outputs found

    Facing our whiteness in doing Ubuntu research:Finding spatial justice for the researcher

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    In this article, the two authors, academics from different contexts and both aware of their whiteness, focus on their own vulnerable selves. The aim is to reflect on their specific agency in this project and to create awareness for subjectivity in research. What are the challenges of two white academics – the one from a first world country with a baggage of colonialism, and the other from South Africa with the apartheid baggage? On the one hand, they are not ‘vulnerable’ selves but indeed very privileged selves. On the other hand, there is an awareness of the fact that this very privilege puts researchers in a vulnerable situation, especially in doing research on Ubuntu in an African context

    Facing our whiteness in doing Ubuntu research. Finding spatial justice for the researcher

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    In this article, the two authors, academics from different contexts and both aware of their whiteness, focus on their own vulnerable selves. The aim is to reflect on their specific agency in this project1 and to create awareness for subjectivity in research. What are the challenges of two white academics – the one from a first world country with a baggage of colonialism, and the other from South Africa with the apartheid baggage? On the one hand, they are not ‘vulnerable’ selves but indeed very privileged selves. On the other hand, there is an awareness of the fact that this very privilege puts researchers in a vulnerable situation, especially in doing research on Ubuntu in an African context.This article is part of the Special Collection titled ‘Spatial Justice and Reconciliation’, sub-edited by Stephan de Beer, of the Department of Practical Theology and the Centre for Contextual Ministry, University of Pretoria.The Templeton World Charity Foundationhttp://www.hts.org.zaam2017Practical Theolog

    Investigating the medium range order in amorphous Ta<sub>2</sub>O<sub>5</sub> coatings

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    Ion-beam sputtered amorphous heavy metal oxides, such as Ta2O5, are widely used as the high refractive index layer of highly reflective dielectric coatings. Such coatings are used in the ground based Laser Interferometer Gravitational-wave Observatory (LIGO), in which mechanical loss, directly related to Brownian thermal noise, from the coatings forms an important limit to the sensitivity of the LIGO detector. It has previously been shown that heat-treatment and TiO2 doping of amorphous Ta2O5 coatings causes significant changes to the levels of mechanical loss measured and is thought to result from changes in the atomic structure. This work aims to find ways to reduce the levels of mechanical loss in the coatings by understanding the atomic structure properties that are responsible for it, and thus helping to increase the LIGO detector sensitivity. Using a combination of Reduced Density Functions (RDFs) from electron diffraction and Fluctuation Electron Microscopy (FEM), we probe the medium range order (in the 2-3 nm range) of these amorphous coatings

    Caribbean Corals in Crisis: Record Thermal Stress, Bleaching, and Mortality in 2005

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    BACKGROUND The rising temperature of the world's oceans has become a major threat to coral reefs globally as the severity and frequency of mass coral bleaching and mortality events increase. In 2005, high ocean temperatures in the tropical Atlantic and Caribbean resulted in the most severe bleaching event ever recorded in the basin. METHODOLOGY/PRINCIPAL FINDINGS Satellite-based tools provided warnings for coral reef managers and scientists, guiding both the timing and location of researchers' field observations as anomalously warm conditions developed and spread across the greater Caribbean region from June to October 2005. Field surveys of bleaching and mortality exceeded prior efforts in detail and extent, and provided a new standard for documenting the effects of bleaching and for testing nowcast and forecast products. Collaborators from 22 countries undertook the most comprehensive documentation of basin-scale bleaching to date and found that over 80% of corals bleached and over 40% died at many sites. The most severe bleaching coincided with waters nearest a western Atlantic warm pool that was centered off the northern end of the Lesser Antilles. CONCLUSIONS/SIGNIFICANCE Thermal stress during the 2005 event exceeded any observed from the Caribbean in the prior 20 years, and regionally-averaged temperatures were the warmest in over 150 years. Comparison of satellite data against field surveys demonstrated a significant predictive relationship between accumulated heat stress (measured using NOAA Coral Reef Watch's Degree Heating Weeks) and bleaching intensity. This severe, widespread bleaching and mortality will undoubtedly have long-term consequences for reef ecosystems and suggests a troubled future for tropical marine ecosystems under a warming climate.This work was partially supported by salaries from the NOAA Coral Reef Conservation Program to the NOAA Coral Reef Conservation Program authors. NOAA provided funding to Caribbean ReefCheck investigators to undertake surveys of bleaching and mortality. Otherwise, no funding from outside authors' institutions was necessary for the undertaking of this study. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript

    Ganglion Cell Adaptability: Does the Coupling of Horizontal Cells Play a Role?

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    Background: The visual system can adjust itself to different visual environments. One of the most well known examples of this is the shift in spatial tuning that occurs in retinal ganglion cells with the change from night to day vision. This shift is thought to be produced by a change in the ganglion cell receptive field surround, mediated by a decrease in the coupling of horizontal cells. Methodology/Principal Findings: To test this hypothesis, we used a transgenic mouse line, a connexin57-deficient line, in which horizontal cell coupling was abolished. Measurements, both at the ganglion cell level and the level of behavioral performance, showed no differences between wild-type retinas and retinas with decoupled horizontal cells from connexin57-deficient mice. Conclusion/Significance: This analysis showed that the coupling and uncoupling of horizontal cells does not play a dominant role in spatial tuning and its adjustability to night and day light conditions. Instead, our data suggest that anothe

    Monitoring biodiversity change through effective global coordination

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    The ability to monitor changes in biodiversity, and their societal impact, is critical to conserving species and managing ecosystems. While emerging technologies increase the breadth and reach of data acquisition, monitoring efforts are still spatially and temporally fragmented, and taxonomically biased. Appropriate long-term information remains therefore limited. The Group on Earth Observations Biodiversity Observation Network (GEO BON) aims to provide a general framework for biodiversity monitoring to support decision makers. Here, we discuss the coordinated observing system adopted by GEO BON, and review challenges and advances in its implementation, focusing on two interconnected core components — the Essential Biodiversity Variables as a standard framework for biodiversity monitoring, and the Biodiversity Observation Networks that support harmonized observation systems — while highlighting their societal relevance

    Identification of a BRCA2-Specific modifier locus at 6p24 related to breast cancer risk

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    Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9×10−8). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer

    Case Reports1. A Late Presentation of Loeys-Dietz Syndrome: Beware of TGFÎČ Receptor Mutations in Benign Joint Hypermobility

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    Background: Thoracic aortic aneurysms (TAA) and dissections are not uncommon causes of sudden death in young adults. Loeys-Dietz syndrome (LDS) is a rare, recently described, autosomal dominant, connective tissue disease characterized by aggressive arterial aneurysms, resulting from mutations in the transforming growth factor beta (TGFÎČ) receptor genes TGFBR1 and TGFBR2. Mean age at death is 26.1 years, most often due to aortic dissection. We report an unusually late presentation of LDS, diagnosed following elective surgery in a female with a long history of joint hypermobility. Methods: A 51-year-old Caucasian lady complained of chest pain and headache following a dural leak from spinal anaesthesia for an elective ankle arthroscopy. CT scan and echocardiography demonstrated a dilated aortic root and significant aortic regurgitation. MRA demonstrated aortic tortuosity, an infrarenal aortic aneurysm and aneurysms in the left renal and right internal mammary arteries. She underwent aortic root repair and aortic valve replacement. She had a background of long-standing joint pains secondary to hypermobility, easy bruising, unusual fracture susceptibility and mild bronchiectasis. She had one healthy child age 32, after which she suffered a uterine prolapse. Examination revealed mild Marfanoid features. Uvula, skin and ophthalmological examination was normal. Results: Fibrillin-1 testing for Marfan syndrome (MFS) was negative. Detection of a c.1270G > C (p.Gly424Arg) TGFBR2 mutation confirmed the diagnosis of LDS. Losartan was started for vascular protection. Conclusions: LDS is a severe inherited vasculopathy that usually presents in childhood. It is characterized by aortic root dilatation and ascending aneurysms. There is a higher risk of aortic dissection compared with MFS. Clinical features overlap with MFS and Ehlers Danlos syndrome Type IV, but differentiating dysmorphogenic features include ocular hypertelorism, bifid uvula and cleft palate. Echocardiography and MRA or CT scanning from head to pelvis is recommended to establish the extent of vascular involvement. Management involves early surgical intervention, including early valve-sparing aortic root replacement, genetic counselling and close monitoring in pregnancy. Despite being caused by loss of function mutations in either TGFÎČ receptor, paradoxical activation of TGFÎČ signalling is seen, suggesting that TGFÎČ antagonism may confer disease modifying effects similar to those observed in MFS. TGFÎČ antagonism can be achieved with angiotensin antagonists, such as Losartan, which is able to delay aortic aneurysm development in preclinical models and in patients with MFS. Our case emphasizes the importance of timely recognition of vasculopathy syndromes in patients with hypermobility and the need for early surgical intervention. It also highlights their heterogeneity and the potential for late presentation. Disclosures: The authors have declared no conflicts of interes

    An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

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    Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.Peer reviewe
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