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Klinefelter syndrome (KS) or 47,XXY is the most common sex chromosome aneuploidy (SCA), occurring at a prevalence of 1 in 600 male pregnancies. Historically, only 25% of individuals with KS came to medical attention, for a range of issues across the life course including under-virilisation at birth, developmental and social concerns in childhood, absence, delay or arrest of puberty in adolescence or infertility in adulthood. Our understanding of the phenotypic spectrum of KS has been largely influenced by this ascertainment bias. With increasing uptake of antenatal noninvasive prenatal testing (NIPT), a corresponding increase in identification of KS has been documented. Population-based longitudinal data from infancy to adulthood on these individuals is lacking, which impedes balanced antenatal genetic counselling and raises issues for prospective parents and clinicians alike. 相似文献
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Castro-Castellon Ana Teresa Hughes Jocelyne Mary Rose Read Daniel Steven Azimi Yaldah Chipps Michael James Hankins Nicholas Peter 《Environmental science and pollution research international》2021,28(22):27731-27741
Environmental Science and Pollution Research - A continuous flow filtration system was designed to identify and quantify the removal mechanisms of Cyanobacteria (Microcystis aeruginosa) by... 相似文献
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Academic understandings of environmental discourses are primarily based on global and national accounts, despite widespread acceptance of the local as an essential site of environmental action. Local water issues have been studied in a number of ways, including interviews and ethnographies that show the impacts of water scarcity, examine the role of mediating technologies, and provide diverse perspectives on governance. An overarching impression of key narratives and concerns at local scales, however, is lacking. In this paper, we examine water coverage in The Sowetan, a South African newspaper known for its distinctive voice, as a (albeit imperfect) proxy for local discourse. We identify key themes, location and scale, trigger events, actors, authors, and provide initial insights into the problem frames used in these texts. Our findings show distinct differences from the results of environmental media analyses at other scales, including strong individual citizen voices, emphasis on the politics of water, and rare use of language that accords with global environmental discourses; this also differs from results based on interviews and ethnographies at the local scale. Our findings raise important questions about the resonance of global discourse with local views and practices and how local discourses are produced, and suggest a need to more carefully examine the myriad ways of talking about justice and the environment at different scales and through different methodologies. 相似文献