226 research outputs found
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Farallonier
This music score was submitted for Resonate 2024: An Open Access Call for Scores by the UCLA Music Library with Bent Frequency and Jan Berry Baker
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Slithering Bronze
This music score was submitted for Resonate 2024: An Open Access Call for Scores by the UCLA Music Library with Bent Frequency and Jan Berry Baker
Proxy Molecular Diagnosis from Whole-Exome Sequencing Reveals Papillon-Lefevre Syndrome Caused by a Missense Mutation in CTSC
Frequency of <i>KLK3 </i>gene deletions in the general population
Background One of the kallikrein genes ( KLK3) encodes prostate-specific antigen, a key biomarker for prostate cancer. A number of factors, both genetic and non-genetic, determine variation of serum prostate-specific antigen concentrations in the population. We have recently found three KLK3 deletions in individuals with very low prostate-specific antigen concentrations, suggesting a link between abnormally reduced KLK3 expression and deletions of KLK3. Here, we aim to determine the frequency of kallikrein gene 3 deletions in the general population. Methods The frequency of KLK3 deletions in the general population was estimated from the 1958 Birth Cohort sample ( n = 3815) using amplification ratiometry control system. In silico analyses using PennCNV were carried out in the same cohort and in NBS-WTCCC2 in order to provide an independent estimation of the frequency of KLK3 deletions in the general population. Results Amplification ratiometry control system results from the 1958 cohort indicated a frequency of KLK3 deletions of 0.81% (3.98% following a less stringent calling criterion). From in silico analyses, we found that potential deletions harbouring the KLK3 gene occurred at rates of 2.13% (1958 Cohort, n = 2867) and 0.99% (NBS-WTCCC2, n = 2737), respectively. These results are in good agreement with our in vitro experiments. All deletions found were in heterozygosis. Conclusions We conclude that a number of individuals from the general population present KLK3 deletions in heterozygosis. Further studies are required in order to know if interpretation of low serum prostate-specific antigen concentrations in individuals with KLK3 deletions may offer false-negative assurances with consequences for prostate cancer screening, diagnosis and monitoring. </jats:sec
Genetic Structure and Extinction of the Woolly Mammoth, Mammuthus primigenius
SummaryThe interval since circa 50 Ka has been a period of significant species extinctions among the large mammal fauna. However, the relative roles of an increasing human presence and a synchronous series of complex environmental changes in these extinctions have yet to be fully resolved [1]. Recent analyses of fossil material from Beringia have clarified our understanding of the spatiotemporal pattern of Late Pleistocene extinctions, identifying periods of population turnover well before the last glacial maximum (LGM: circa 21 Ka) or subsequent human expansion [2–4]. To examine the role of pre-LGM population changes in shaping the genetic structure of an extinct species, we analyzed the mitochondrial DNA of woolly mammoths in western Beringia and across its range. We identify genetic signatures of a range expansion of mammoths, from eastern to western Beringia, after the last interglacial (circa 125 Ka), and then an extended period during which demographic inference indicates no population-size increase. The most marked change in diversity at this time is the loss of one of two major mitochondrial lineages
Integrating true multilingual capabilities into an Institutional Repository : Building the World Health Organization's Institutional Repository for Information Sharing
Introduction
In a global context, how do we facilitate the dissemination and access if the material in a repository is primarily searchable and retrievable in only in one or two languages? It has been observed that there is much research and public health guidelines that goes unknown to large numbers of researchers, health workers and to the general public when they are only able to access in one language or another. How do we promote integration of various information sources in an international organization with 147 country offices, six regional offices and one headquarters, and with material being published in 6 official languages and 53 non-official languages? Research ethics should start considering, at design stage, the outreach of methods used and results obtained beyond the boundaries of the research language. Access to information in as many languages as possible should become a major component of any accessibilityrelated debate
Integrating true multilingual capabilities into an Institutional Repository : Building the World Health Organization's Institutional Repository for Information Sharing
Introduction
In a global context, how do we facilitate the dissemination and access if the material in a repository is primarily searchable and retrievable in only in one or two languages? It has been observed that there is much research and public health guidelines that goes unknown to large numbers of researchers, health workers and to the general public when they are only able to access in one language or another. How do we promote integration of various information sources in an international organization with 147 country offices, six regional offices and one headquarters, and with material being published in 6 official languages and 53 non-official languages? Research ethics should start considering, at design stage, the outreach of methods used and results obtained beyond the boundaries of the research language. Access to information in as many languages as possible should become a major component of any accessibilityrelated debate
New horizons in systems engineering and thinking to improve health and social care for older people
Existing models for the safe, timely and effective delivery of health and social care are challenged by an ageing population. Services and care pathways are often optimised for single-disease management, while many older people are presenting with multiple long-term conditions and frailty. Systems engineering describes a holistic, interdisciplinary approach to change that is focused on people, system understanding, design and risk management. These principles are the basis of many established quality improvement (QI) tools in health and social care, but implementation has often been limited to single services or condition areas. Newer engineering techniques may help reshape more complex systems. Systems thinking is an essential component of this mindset to understand the underlying relationships and characteristics of a working system. It promotes the use of tools that map, measure and interrogate the dynamics of complex systems. In this New Horizons piece, we describe the evolution of systems approaches while noting the challenges of small-scale QI efforts that fail to address whole-system problems. The opportunities for novel soft-systems approaches are described, along with a recent update to the Systems Engineering Initiative for Patient Safety model, which includes human-centred design. Systems modelling and simulation techniques harness routine data to understand the functioning of complex health and social care systems. These tools could support better-informed system change by allowing comparison of simulated approaches before implementation, but better effectiveness evidence is required. Modern systems engineering and systems thinking techniques have potential to inform the redesign of services appropriate for the complex needs of older people
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