Clinical medicine (London, England)
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Cancer is the ultimate disorder of the genome, characterised not by just one or two mutations, but by hundreds to thousands of acquired mutations that have been accrued through the development of a tumour. Thanks to the recent increase in the speed of sequencing offered by modern sequencing technologies, we are no longer restricted to exploring tiny fragments of protein-coding portions of the human genome. We can now read all the genetic material in human cells. ⋯ Some of the recent insights into tumour biology, that exploit the extraordinary surge in scale and the digital nature of next-generation sequencing, are highlighted, including cancer gene discovery, the detection of mutation signatures and cancer evolution. Technological and intellectual developments are starting to shape the personalized cancer genomic profiles of tomorrow. Let's train the next-generation of clinicians to be able to read them from today.
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Falls in later life are a major health issue, both in terms of their injurious consequences and their significance as a diagnostic marker. Cost-effective measures for their assessment and prevention are well documented but insufficiently implemented. ⋯ Recommendations abstracted verbatim from the Guideline are highlighted. Explanatory or supporting comment is given as appropriate.
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The optimum management of acute medical patients requires prompt and accurate diagnosis, monitoring and treatment. The clinical history and physical examination remain central to diagnosis, but often need supplementation by laboratory testing or imaging. Echocardiographic assessment of cardiac structure and function provides valuable information that can aid diagnosis and assess clinical progress. ⋯ Hand-held ultrasound devices can also be used in acute situations, as well as geographically remote areas or special situations (eg disaster zones) where other imaging is not available. However, the diagnostic yield of echocardiography is user dependent, and training is required for its benefits to be realised, adding to the hardware costs. More data are needed on the incremental value of hand-held ultrasonography and a quick-scan over conventional methods of assessment, their impact on clinical outcomes, and cost effectiveness.
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The Stroke Improvement National Audit Programme (SINAP), now replaced by the Sentinel Stroke National Audit Programme, was established to provide comparative data on hospital performance indicators for stroke, but comparisons are only valid if case ascertainment is complete. In Gateshead we compared initial results from SINAP with those from a pre-existing hospital stroke register, which ran independently for 11 months after SINAP's introduction in 2010, as well as with Hospital Episode Statistics (HES) data. ⋯ These patients had much lower mortality and shorter hospital stays than those with confirmed stroke. This diagnostic uncertainty could be an important source of uncontrolled variation in, or even a potential target for manipulation of, hospital performance indicators for stroke.
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Barretts oesophagus represents the most significant risk factor for the development of oesophageal adenocarcinoma (OAC), although the majority of patients will not develop cancer. However, early detection of OAC and its precursors significantly improves outcome and underlines the importance of endoscopic surveillance programmes. Clearly there is a discrepancy between the small number of people who need to undergo surveillance because they are at significant progression risk, and the large number that do. ⋯ Currently such stratification is currently based on clinical findings, endoscopic diagnosis and histopathological grade. Histopathology can be imperfect and is likely to require molecular confirmation of different grades, thus molecular stratification is becoming more important in this regard and p53 immunohistochemistry is already clinically useful, with other molecular biomarkers likely to prove beneficial in the future. The hope is that non-endoscopic methods, such as the Cytosponge may be able to combine molecular biomarkers with histopathology and therefore perhaps benefit a population screening as well as a surveillance programme.