المؤلفون: Bailey, J. A.^{Aff1, Aff2}, Ibrahim, H., Bunce, J., Chapman, C. J., Morling, J. R.^{Aff4, Aff5}, Simpson, J. A., Humes, D. J.^{Aff1, Aff4, Aff5}, Banerjea, A.

المصدر: Techniques in Coloproctology. 25(10):1151-1154

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المؤلفون: Buch, S., Innes, H., Lutz, P. L., Nischalke, H. D., Marquardt, J. U., Fischer, J., Weiss, K. H., Rosendahl, J., Marot, A., Krawczyk, M., Casper, M., Lammert, F., Eyer, F., Vogel, A., Marhenke, S., von Felden, J., Sharma, R., Atkinson, S. R., McQuillin, A., Nattermann, J., Schafmayer, C., Franke, A., Strassburg, C., Rietschel, M., Altmann, H., Sulk, S., Thangapandi, V. R., Brosch, M., Lackner, C., Stauber, R. E., Canbay, A., Link, A., Reiberger, T., Mandorfer, M., Semmler, G., Scheiner, B., Datz, C., Romeo, Stefano, 1976, Corradini, S. G., Irving, W. L., Morling, J. R., Guha, I. N., Barnes, E., Ansari, M. A., Quistrebert, J., Valenti, L., Muller, S. A., Morgan, M. Y., Dufour, J. F., Trebicka, J., Berg, T., Deltenre, P., Mueller, S., Hampe, J., Stickel, F.

المصدر: Gut. 72(2):381-391

مصطلحات موضوعية: Gastroenterology and Hepatology, Gastroenterologi, hepatocellular carcinoma, genetic polymorphisms, confers susceptibility, telomere length, association, variant, pnpla3, cancer, progression, dependence, mutations, tm6sf2, Gastroenterology & Hepatology

الوصف: Objective Hepatocellular carcinoma (HCC) often develops in patients with alcohol-related cirrhosis at an annual risk of up to 2.5%. Some host genetic risk factors have been identified but do not account for the majority of the variance in occurrence. This study aimed to identify novel susceptibility loci for the development of HCC in people with alcohol related cirrhosis. Design Patients with alcohol-related cirrhosis and HCC (cases: n=1214) and controls without HCC (n=1866), recruited from Germany, Austria, Switzerland, Italy and the UK, were included in a two-stage genome-wide association study using a case-control design. A validation cohort of 1520 people misusing alcohol but with no evidence of liver disease was included to control for possible association effects with alcohol misuse. Genotyping was performed using the InfiniumGlobal Screening Array (V.24v2, Illumina) and the OmniExpress Array (V.24v1-0a, Illumina). Results Associations with variants rs738409 in PNPLA3 and rs58542926 in TM6SF2 previously associated with an increased risk of HCC in patients with alcohol-related cirrhosis were confirmed at genome-wide significance. A novel locus rs2242652(A) in TERT (telomerase reverse transcriptase) was also associated with a decreased risk of HCC, in the combined meta-analysis, at genome-wide significance (p=6.41x10(-9), OR=0.61 (95% CI 0.52 to 0.70). This protective association remained significant after correction for sex, age, body mass index and type 2 diabetes (p=7.94x10(-5), OR=0.63 (95% CI 0.50 to 0.79). Carriage of rs2242652(A) in TERT was associated with an increased leucocyte telomere length (p=2.12x10(-44)). Conclusion This study identifies rs2242652 in TERT as a novel protective factor for HCC in patients with alcohol-related cirrhosis.

URL الوصول: https://gup.ub.gu.se/publication/319020

المؤلفون: Carleton-Boylan, G., Crossley, S., Siebert, P., Ajanaku, N., Iqbal, A., John, A., Sandhu, S., Williams, C., Leach, L., Patel, R., Buchanan, H., Taggar, J., Leonardi-Bee, J., Morling, J., Qureshi, I., Hubber, L., Bethea, J., Wilson, E.E.

المصدر: In Public Health in Practice June 2024 7

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المؤلفون: Crooks, C J, West, J, Morling, J R, Simmonds, M, Juurlink, I, Briggs, S, Cruickshank, S, Hammond-Pears, S, Shaw, D, Card, T R, Fogarty, A W

المصدر: QJM: An International Journal of Medicine; Jan2023, Vol. 116 Issue 1, p63-67, 5p

مصطلحات موضوعية: ETHNIC groups, INTENSIVE care units, PULSE oximetry, PULSE oximeters, COVID-19

مصطلحات جغرافية: ASIA, AFRICA

مستخلص: Background Pulse oximeters are widely used to monitor blood oxygen saturations, although concerns exist that they are less accurate in individuals with pigmented skin. Aims This study aimed to determine if patients with pigmented skin were more severely unwell at the period of transfer to intensive care units (ICUs) than individuals with White skin. Methods Using data from a large teaching hospital, measures of clinical severity at the time of transfer of patients with COVID-19 infection to ICUs were assessed, and how this varied by ethnic group. Results Data were available on 748 adults. Median pulse oximetry demonstrated similar oxygen saturations at the time of transfer to ICUs (Kruskal–Wallis test, P  = 0.51), although median oxygen saturation measurements from arterial blood gases at this time demonstrated lower oxygen saturations in patients classified as Indian/Pakistani ethnicity (91.6%) and Black/Mixed ethnicity (93.0%), compared to those classified as a White ethnicity (94.4%, Kruskal–Wallis test, P  = 0.005). There were significant differences in mean respiratory rates in these patients (P  < 0.0001), ranging from 26 breaths/min in individuals with White ethnicity to 30 breaths/min for those classified as Indian/Pakistani ethnicity and 31 for those who were classified as Black/Mixed ethnicity. Conclusions These data are consistent with the hypothesis that differential measurement error for pulse oximeter readings negatively impact on the escalation of clinical care in individuals from other than White ethnic groups. This has implications for healthcare in Africa and South-East Asia and may contribute to differences in health outcomes across ethnic groups globally. [ABSTRACT FROM AUTHOR]

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