445 research outputs found

    Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery

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    Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural “Turner Resource Network (TRN) Symposium” brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: 1. inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome; 2. investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population.Eunice Kennedy Shriver National Institute of Child Health and Human Development (U.S.) (Grant 1R13HD079209-01)March of Dimes Birth Defects FoundationAmerican Heart AssociationNational Institutes of Health (U.S.) Office of Women's HealthLeaping Butterfly MinistryTurner Syndrome Society of the United State

    LSST: from Science Drivers to Reference Design and Anticipated Data Products

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    (Abridged) We describe here the most ambitious survey currently planned in the optical, the Large Synoptic Survey Telescope (LSST). A vast array of science will be enabled by a single wide-deep-fast sky survey, and LSST will have unique survey capability in the faint time domain. The LSST design is driven by four main science themes: probing dark energy and dark matter, taking an inventory of the Solar System, exploring the transient optical sky, and mapping the Milky Way. LSST will be a wide-field ground-based system sited at Cerro Pach\'{o}n in northern Chile. The telescope will have an 8.4 m (6.5 m effective) primary mirror, a 9.6 deg2^2 field of view, and a 3.2 Gigapixel camera. The standard observing sequence will consist of pairs of 15-second exposures in a given field, with two such visits in each pointing in a given night. With these repeats, the LSST system is capable of imaging about 10,000 square degrees of sky in a single filter in three nights. The typical 5σ\sigma point-source depth in a single visit in rr will be 24.5\sim 24.5 (AB). The project is in the construction phase and will begin regular survey operations by 2022. The survey area will be contained within 30,000 deg2^2 with δ<+34.5\delta<+34.5^\circ, and will be imaged multiple times in six bands, ugrizyugrizy, covering the wavelength range 320--1050 nm. About 90\% of the observing time will be devoted to a deep-wide-fast survey mode which will uniformly observe a 18,000 deg2^2 region about 800 times (summed over all six bands) during the anticipated 10 years of operations, and yield a coadded map to r27.5r\sim27.5. The remaining 10\% of the observing time will be allocated to projects such as a Very Deep and Fast time domain survey. The goal is to make LSST data products, including a relational database of about 32 trillion observations of 40 billion objects, available to the public and scientists around the world.Comment: 57 pages, 32 color figures, version with high-resolution figures available from https://www.lsst.org/overvie

    Bovine Tuberculosis and Badger Control in Britain: Science, Policy and Politics

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    Bovine tuberculosis (bovine TB) is the most economically important animal health policy issue in Britain. The problem of what to do about badgers has plagued successive governments since a dead badger was discovered with bovine TB in 1971. Successive Labour governments (1997–2010) oversaw the Randomised Badger Culling Trial (RBCT) from 1998 to 2006. Despite the RBCT recommendation against culling, the 2010–2015 Coalition government implemented pilot badger culls. This paper provides an account of the evolution of bovine TB and badger control policy, focusing on the 1997–2010 Labour, the 2010–2015 Coalition and the 2015-present Conservative governments. Interviews with bovine TB policy stakeholders supplement discussion of the development of bovine TB policy. The paper discusses the science and politics of bovine TB policy, in which there are different badger control policies in Westminster, Welsh and Scottish governments. Badger control is a highly polarised issue, and the Coalition and Conservative governments have been heavily criticised for a culling policy opposed by the independent scientific community. Recent governments have defended badger culling on the basis of veterinary advice and experience in countries such as New Zealand. The paper concludes with two key recommendations to inform controversial animal health and welfare policy issues such as bovine TB. First, mandatory Animal Welfare Impact Assessment provides objective data on the impacts of policy options on cows and badgers. Second, robust ethical analysis, conducted by independent experts using established moral frameworks, should be applied to animal health and welfare issues for the benefit of decision makers

    Bovine Tuberculosis Policy in England: Would a Virtuous Government Cull Mr Badger?

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    Bovine tuberculosis (bovine TB) is the most important animal health and welfare policy issue in Britain. Badgers are a wildlife reservoir of disease, although the eight-year Independent Scientific Group (ISG) Randomised Badger Culling Trial concluded with a recommendation against culling. The report advised government that bovine TB could be controlled, and ultimately eradicated, by cattle-based measures alone. Despite the ISG recommendation against culling, the farming and veterinary industries continued to lobby government for a badger cull. The 2005–2010 Labour government followed the ISG advice and decided against a cull. The 2010–2015 Coalition and the 2015-present Conservative governments have followed a badger culling policy. This paper investigates whether a virtuous government would cull badgers. It provides an overview of virtue theory in the context of government animal health and welfare policy. Bovine TB and badger control policy options are then analysed in the context of the virtues of justice, wisdom, integrity, loyalty, curiosity, trust, empathy, compassion and aesthetics. Justice is the first virtue of government, and badger culling is seriously problematic from a virtue perspective given that five badgers are culled per cow that avoids slaughter as a result. Analysis based on other virtues strongly suggests that government should not cull badgers. The paper concludes that a virtuous government would not cull badgers as part of policy to control bovine TB in cattle

    Retrotransposon-Induced Heterochromatin Spreading in the Mouse Revealed by Insertional Polymorphisms

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    The “arms race” relationship between transposable elements (TEs) and their host has promoted a series of epigenetic silencing mechanisms directed against TEs. Retrotransposons, a class of TEs, are often located in repressed regions and are thought to induce heterochromatin formation and spreading. However, direct evidence for TE–induced local heterochromatin in mammals is surprisingly scarce. To examine this phenomenon, we chose two mouse embryonic stem (ES) cell lines that possess insertionally polymorphic retrotransposons (IAP, ETn/MusD, and LINE elements) at specific loci in one cell line but not the other. Employing ChIP-seq data for these cell lines, we show that IAP elements robustly induce H3K9me3 and H4K20me3 marks in flanking genomic DNA. In contrast, such heterochromatin is not induced by LINE copies and only by a minority of polymorphic ETn/MusD copies. DNA methylation is independent of the presence of IAP copies, since it is present in flanking regions of both full and empty sites. Finally, such spreading into genes appears to be rare, since the transcriptional start sites of very few genes are less than one Kb from an IAP. However, the B3galtl gene is subject to transcriptional silencing via IAP-induced heterochromatin. Hence, although rare, IAP-induced local heterochromatin spreading into nearby genes may influence expression and, in turn, host fitness

    Spawning of bluefin tuna in the black sea: historical evidence, environmental constraints and population plasticity

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    <div><p>The lucrative and highly migratory Atlantic bluefin tuna, <em>Thunnus thynnus</em> (Linnaeus 1758<em>;</em> Scombridae), used to be distributed widely throughout the north Atlantic Ocean, Mediterranean Sea and Black Sea. Its migrations have supported sustainable fisheries and impacted local cultures since antiquity, but its biogeographic range has contracted since the 1950s. Most recently, the species disappeared from the Black Sea in the late 1980s and has not yet recovered. Reasons for the Black Sea disappearance, and the species-wide range contraction, are unclear. However bluefin tuna formerly foraged and possibly spawned in the Black Sea. Loss of a locally-reproducing population would represent a decline in population richness, and an increase in species vulnerability to perturbations such as exploitation and environmental change. Here we identify the main genetic and phenotypic adaptations that the population must have (had) in order to reproduce successfully in the specific hydrographic (estuarine) conditions of the Black Sea. By comparing hydrographic conditions in spawning areas of the three species of bluefin tunas, and applying a mechanistic model of egg buoyancy and sinking rate, we show that reproduction in the Black Sea must have required specific adaptations of egg buoyancy, fertilisation and development for reproductive success. Such adaptations by local populations of marine fish species spawning in estuarine areas are common as is evident from a meta-analysis of egg buoyancy data from 16 species of fish. We conclude that these adaptations would have been necessary for successful local reproduction by bluefin tuna in the Black Sea, and that a locally-adapted reproducing population may have disappeared. Recovery of bluefin tuna in the Black Sea, either for spawning or foraging, will occur fastest if any remaining locally adapted individuals are allowed to survive, and by conservation and recovery of depleted Mediterranean populations which could through time re-establish local Black Sea spawning and foraging.</p> </div
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