新鲜红细胞与标准红细胞输血对危重患儿多器官功能障碍综合征的影响，这一成果由美国圣路易斯华盛顿大学医学院Philip C. Spinella联合加拿大拉瓦尔大学 Alexis F. Turgeon研究小组取得。 这一研究成果于2019年12月10日发表在国际顶尖学术期刊《美国医学会杂志》上。
Title: Effect of Fresh vs Standard-issue Red Blood Cell Transfusions on Multiple Organ Dysfunction Syndrome in Critically Ill Pediatric Patients: A Randomized Clinical Trial
Author: Philip C. Spinella, Marisa Tucci, Dean A. Fergusson, Jacques Lacroix, Paul C. Hébert, Stéphane Leteurtre, Kenneth B. Schechtman, Allan Doctor, Robert A. Berg, Tina Bockelmann, J. Jaime Caro, Fabrizio Chiusolo, Lucy Clayton, Jill M. Cholette, Gonzalo Garcia Guerra, Cassandra D. Josephson, Kusum Menon, Jennifer A. Muszynski, Marianne E. Nellis, Amrita Sarpal, Stephanie Schafer, Marie E. Steiner, Alexis F. Turgeon
Importance Hereditary transthyretin (TTR) amyloid cardiomyopathy (hATTR-CM) due to the TTR V122I variant is an autosomal-dominant disorder that causes heart failure in elderly individuals of African ancestry. The clinical associations of carrying the variant, its effect in other African ancestry populations including Hispanic/Latino individuals, and the rates of achieving a clinical diagnosis in carriers are unknown.
Objective To assess the association between the TTR V122I variant and heart failure and identify rates of hATTR-CM diagnosis among carriers with heart failure.
Design, Setting, and Participants Cross-sectional analysis of carriers and noncarriers of TTR V122I of African ancestry aged 50 years or older enrolled in the Penn Medicine Biobank between 2008 and 2017 using electronic health record data from 1996 to 2017. Case-control study in participants of African and Hispanic/Latino ancestry with and without heart failure in the Mount Sinai BioMe Biobank enrolled between 2007 and 2015 using electronic health record data from 2007 to 2018.
Exposures TTR V122I carrier status.
Main Outcomes and Measures The primary outcome was prevalent heart failure. The rate of diagnosis with hATTR-CM among TTR V122I carriers with heart failure was measured.
Results The cross-sectional cohort included 3724 individuals of African ancestry with a median age of 64 years (interquartile range, 57-71); 1755 (47%) were male, 2896 (78%) had a diagnosis of hypertension, and 753 (20%) had a history of myocardial infarction or coronary revascularization. There were 116 TTR V122I carriers (3.1%); 1121 participants (30%) had heart failure. The case-control study consisted of 2307 individuals of African ancestry and 3663 Hispanic/Latino individuals; the median age was 73 years (interquartile range, 68-80), 2271 (38%) were male, 4709 (79%) had a diagnosis of hypertension, and 1008 (17%) had a history of myocardial infarction or coronary revascularization. There were 1376 cases of heart failure. TTR V122I was associated with higher rates of heart failure (cross-sectional cohort: n?=?51/116 TTR V122I carriers [44%], n?=?1070/3608 noncarriers [30%], adjusted odds ratio, 1.7 [95% CI, 1.2-2.4], P?=?.006; case-control study: n?=?36/1376 heart failure cases [2.6%], n?=?82/4594 controls [1.8%], adjusted odds ratio, 1.8 [95% CI, 1.2-2.7], P?=?.008). Ten of 92 TTR V122I carriers with heart failure (11%) were diagnosed as having hATTR-CM; the median time from onset of symptoms to clinical diagnosis was 3 years.
Conclusions and Relevance Among individuals of African or Hispanic/Latino ancestry enrolled in 2 academic medical center–based biobanks, the TTR V122I genetic variant was significantly associated with heart failure.