809 research outputs found

    A national register for surveillance of inherited disorders: beta thalassaemia in the United Kingdom

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    OBJECTIVE: To demonstrate the value of a national register for surveillance of services for an inherited disorder. METHODS: Data from the United Kingdom Thalassaemia Register and the United Kingdom Register of Prenatal Diagnosis for Haemoglobin Disorders were combined in a database; these registers include all fetuses known to have been diagnosed with beta thalassaemia major, beta thalassaemia intermedia, or haemoglobin E/beta thalassaemia in the United Kingdom. Data were extracted to show outcomes (selective abortion or live birth) of all fetuses and the status of those born with a disorder (alive, dead, successful bone marrow transplant, or lost to follow-up) by parents' region of residence and ethnicity. FINDINGS: At the end of 1999 the register included 1074 patients, 807 of whom were alive and residing in the United Kingdom. A successful bone marrow transplant has been performed for 117 out of 581 (20%) patients born since 1975. Residents of Pakistani origin are now the main group at risk in the United Kingdom, replacing residents of Cypriot origin. This has led to a marked shift in the need for services from the south-east of England to the Midlands and the north of England. Despite the acceptability of prenatal diagnosis, the proportion of affected births remains 50% higher than would be expected, reflecting a widespread failure to deliver timely screening and counselling to carriers. Even though effective treatment is available the annual number of deaths is rising, indicating that better tolerated treatments are needed. CONCLUSION: A national diagnosis register is a powerful instrument for monitoring the treatment and prevention of inherited disorders and for highlighting correctable shortcomings. In view of the increasing possibilities for genetic screening there is a strong case for central funding for such databases within modern health services

    Study on Doping Prevention: A map of Legal, Regulatory and Prevention Practice Provisions in EU 28

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    Historically, anti-doping efforts have focused on the detection and deterrence of doping in elite and competitive sport. There is, however, a growing concern that doping is occurring outside the organised sporting system; giving rise to the belief that the misuse of doping agents in recreational sport has become a societal problem and a public health issue that must be addressed. The EU Commission awarded a contract (EAC/2013/0617) to a Consortium to undertake this Study with the aim of developing the evidence-base for policies designed to combat doping in recreational sport. Fourteen internationally recognised experts shaped the Study which comprised (i) the collection of primary data through a structured survey, and (ii) secondary data through literature searches and website analysis. All 28 Member States participated in the information-gathering process. Specifically, this involved a systematic study of the ethical considerations, legal position, prevention research landscape, and current practise in relation to the prevention of doping in recreational sport. The Study provides a comprehensive overview of current practice and legislation as it applies to the prevention of doping and promotes and supports the sharing of best practices in the EU regarding the fight against doping in recreational sport. It concludes with seven recommendations for future action that focus on the need for a coordinated response in relation to the problems arising from doping in recreational sport

    Economic outcomes associated with deep surgical site infection in patients with an open fracture of the lower limb

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    Aims The aim of this study was to estimate economic outcomes associated with deep surgical site infection (SSI) in patients with an open fracture of the lower limb. Patients and Methods A total of 460 patients were recruited from 24 specialist trauma hospitals in the United Kingdom Major Trauma Network. Preference-based health-related quality-of-life outcomes, assessed using the EuroQol EQ-5D-3L and the 6-Item Short-Form Health Survey questionnaire (SF-6D), and economic costs (£, 2014/2015 prices) were measured using participant-completed questionnaires over the 12 months following injury. Descriptive statistics and multivariate regression analysis were used to explore the relationship between deep SSI and health utility scores, quality-adjusted life-years (QALYs), and health and personal social service (PSS) costs. Results Deep SSI was associated with lower EQ-5D-3L derived QALYs (adjusted mean difference -0.102, 95% confidence interval (CI) -0.202 to 0.001, p = 0.047) and increased health and social care costs (adjusted mean difference £1950; 95% CI £1383 to £5285, p = 0.250) versus patients without deep SSI over the 12 months following injury. Conclusion Deep SSI may lead to significantly impaired health-related quality of life and increased economic costs. Our economic estimates can be used to inform clinical and budgetary service planning and can act as reference data for future economic evaluations of preventive or treatment interventions

    Re-evaluation of cosmic ray cutoff terminology

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    The study of cosmic ray access to locations inside the geomagnetic field has evolved in a manner that has led to some misunderstanding and misapplication of the terminology originally developed to describe particle access. This paper presents what is believed to be a useful set of definitions for cosmic ray cutoff terminology for use in theoretical and experimental cosmic ray studies

    FAUSTA: Scaling Dynamic Analysis with Traffic Generation at WhatsApp

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    We introduce Fausta, an algorithmic traffic gener-ation platform that enables analysis and testing at scale. Fausta has been deployed at Meta to analyze and test the WhatsApp plat-form infrastructure since September 2020, enabling WhatsApp developers to deploy reliable code changes to a code base of millions of lines of code, supporting over 2 billion users who rely on WhatsApp for their daily communications. Fausta covers expected and unexpected program behaviors in a privacy-safe controlled environment to support multiple use cases such as reliability testing, privacy analysis and performance regression detection. It currently supports three different algorithmic input generation strategies, each of which construct realistic backend server traffic that closely simulates production data, without replaying any real user data. Fausta has been deployed and closely integrated into the WhatsApp continuous integration process, catching bugs in development before they hit production. We report on the development and deployment of Fausta's reliability use case between September 2020 and August 2021. During this period it has found 1,876 unique reliability issues, with a fix rate of 74%, indicating a high degree of true positive fault revelation. We also report on the distribution of fault types revealed by Fausta, and the correlation between coverage and faults found. Overall, we do find evidence that higher coverage is correlated with fault revelation

    Environmental Symbiont Acquisition May Not Be the Solution to Warming Seas for Reef-Building Corals

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    BACKGROUND: Coral reefs worldwide are in decline. Much of the mortality can be attributed to coral bleaching (loss of the coral's intracellular photosynthetic algal symbiont) associated with global warming. How corals will respond to increasing oceanic temperatures has been an area of extensive study and debate. Recovery after a bleaching event is dependent on regaining symbionts, but the source of repopulating symbionts is poorly understood. Possibilities include recovery from the proliferation of endogenous symbionts or recovery by uptake of exogenous stress-tolerant symbionts. METHODOLOGY/PRINCIPAL FINDINGS: To test one of these possibilities, the ability of corals to acquire exogenous symbionts, bleached colonies of Porites divaricata were exposed to symbiont types not normally found within this coral and symbiont acquisition was monitored. After three weeks exposure to exogenous symbionts, these novel symbionts were detected in some of the recovering corals, providing the first experimental evidence that scleractinian corals are capable of temporarily acquiring symbionts from the water column after bleaching. However, the acquisition was transient, indicating that the new symbioses were unstable. Only those symbiont types present before bleaching were stable upon recovery, demonstrating that recovery was from the resident in situ symbiont populations. CONCLUSIONS/SIGNIFICANCE: These findings suggest that some corals do not have the ability to adjust to climate warming by acquiring and maintaining exogenous, more stress-tolerant symbionts. This has serious ramifications for the success of coral reefs and surrounding ecosystems and suggests that unless actions are taken to reverse it, climate change will lead to decreases in biodiversity and a loss of coral reefs
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