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Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma
Chambers, John C,Zhang, Weihua,Sehmi, Joban,Li, Xinzhong,Wass, Mark N,Van der Harst, Pim,Holm, Hilma,Sanna, Serena,Kavousi, Maryam,Baumeister, Sebastian E,Coin, Lachlan J,Deng, Guohong,Gieger, Christi Nature Publishing Group, a division of Macmillan P 2011 Nature genetics Vol.43 No.11
Concentrations of liver enzymes in plasma are widely used as indicators of liver disease. We carried out a genome-wide association study in 61,089 individuals, identifying 42 loci associated with concentrations of liver enzymes in plasma, of which 32 are new associations (P = 10<SUP>??8</SUP> to P = 10<SUP>??190</SUP>). We used functional genomic approaches including metabonomic profiling and gene expression analyses to identify probable candidate genes at these regions. We identified 69 candidate genes, including genes involved in biliary transport (ATP8B1 and ABCB11), glucose, carbohydrate and lipid metabolism (FADS1, FADS2, GCKR, JMJD1C, HNF1A, MLXIPL, PNPLA3, PPP1R3B, SLC2A2 and TRIB1), glycoprotein biosynthesis and cell surface glycobiology (ABO, ASGR1, FUT2, GPLD1 and ST3GAL4), inflammation and immunity (CD276, CDH6, GCKR, HNF1A, HPR, ITGA1, RORA and STAT4) and glutathione metabolism (GSTT1, GSTT2 and GGT), as well as several genes of uncertain or unknown function (including ABHD12, EFHD1, EFNA1, EPHA2, MICAL3 and ZNF827). Our results provide new insight into genetic mechanisms and pathways influencing markers of liver function.
Hand- held Ultrasound Scanners in Medical Education: A Systematic Review
Victor Galusko,Mohammed Yunus Khanji,Owen Bodger,Clive Weston,John Chambers,Adrian Ionescu 한국심초음파학회 2017 Journal of Cardiovascular Imaging (J Cardiovasc Im Vol.25 No.3
Background: Ultrasound imaging devices are becoming popular in clinical and teaching settings, but there is no systematic information on their use in medical education. We conducted a systematic review of hand-held ultrasound (HHU) devices in undergraduate medical education to delineate their role, significance, and limitations. Methods: We searched Cochrane, PubMed, Embase, and Medline using the strategy: [(Hand-held OR Portable OR Pocket OR “Point of Care Systems”) AND Ultrasound] AND (Education OR Training OR Undergraduate OR “Medical Students” OR “Medical School”). We retained 12 articles focusing on undergraduate medical education. We summarised the patterns of HHU use, pooled and estimated sensitivity, and specificity of HHU for detection of left ventricular dysfunction. Results: Features reported were heterogeneous: training time (1–25 hours), number of students involved (1-an entire cohort), number of subjects scanned (27–211), and type of learning (self-directed vs. traditional lectures + hands-on sessions). Most studies reported cardiac HHU examinations, but other anatomical areas were examined, e.g. abdomen and thyroid. Pooled sensitivity 0.88 [95% confidence interval (CI) 0.83–0.92] and specificity 0.86 (95% CI 0.81–0.90) were high for the detection of left ventricular systolic dysfunction by students. Conclusion: Data on HHU devices in medical education are scarce and incomplete, but following training students can achieve high diagnostic accuracy, albeit in a limited number of (mainly cardiac) pathologies. There is no consensus on protocols best-suited to the educational needs of medical students, nor data on long-term impact, decay in proficiency or on the financial implications of deploying HHU in this setting.