简介:摘要影像组学作为一项新兴的组学技术,可将数字医学图像转化成海量的定量图像特征,从而达到深入挖掘成像组织病理生理学信息的目的。近年来,影像组学相关的研究数量呈指数增长,目前在肝胆疾病中的应用主要包括肝纤维化精准评估、肿瘤良恶性鉴别、生物学行为预测、临床疗效评价以及预后判断。影像组学分析联合机器学习算法已在无创、高效地预测肝纤维化程度、肝癌微血管侵犯与术后复发风险、胆道恶性肿瘤淋巴结转移及结直肠癌肝转移治疗效果方面崭露头角。尽管该技术在临床转化过程中仍面临诸多挑战,但随着大样本、多中心和多组学研究的深入开展,影像组学将在推动肝胆疾病精准诊疗方面拥有广阔的应用前景。
简介:摘要:精准医学是一种新兴的医学模式,旨在根据个体的遗传、环境和生活方式信息,提供更加针对性的预防和治疗方法。在现代医学检验领域,精准医学模式已经逐渐成为主导趋势。本文对精准医学时代下的医学检验技术发展趋势进行了探讨。通过文献资料搜集,以及对近年来精准医学与医学检验实践的观察,我们认识到基因测序技术的应用、大数据分析的广泛使用将成为未来检验技术的重要向导。愈发精细的检验技术,如单基因病的新型诊断技术,以及基于人工智能的诊断算法等,不仅有助于我们理解并预防多种疾病,同时也与疾病治疗的个体化趋势紧密相连。精准医学将急剧改变医学检验的画像,为未来的诊疗带来更广阔的可能性。这种趋势的深入发展,将为精准医学理论的丰富和实践的进步提供强有力的推动和广阔的空间。
简介:AbstractBackground:The elimination of Plasmodium vivax malaria requires 8-aminoquinolines, which are contraindicated in patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency due to the risk of acute haemolytic anaemia. Several point-of-care devices have been developed to detect G6PD deficiency. The objective of the present study was to evaluate the performance of two of these devices against G6PD genotypes in Mauritania.Methods:Outpatients were screened for G6PD deficiency using CareStart™ rapid diagnostic test (RDT) and CareStart™ G6PD biosensor in Nouakchott, Mauritania, in 2019-2020. African-type and Mediterranean-type G6PD genotypes commonly observed in Africa were determined by polymerase chain reaction-restriction fragment length polymorphism and sequencing. Qualitative variables were compared using Fisher’s exact test.Results:Of 323 patients (74 males and 249 females), 5 males and 2 homozygous females had the African-type A-genotype: A-(202) in 3 males and 2 females and G6PD A-(968) in 2 males. Among heterozygous females, 13 carried G6PD A-(202), 12 G6PD A-(968), and 3 G6PD A-(542) variants. None had the Mediterranean-type G6PD genotype. Eight had a positive G6PD RDT result, including all 7 hemizygous males and homozygous females with A- or A-A- (0.12 to 2.34 IU/g haemoglobin, according to G6PD biosensor), but RDT performed poorly (sensitivity, 11.1% at the cutoff level of < 30%) and yielded many false negative tests. Thirty-seven (50.0%) males and 141 (56.6%) females were anaemic. The adjusted median values of G6PD activity were 5.72 and 5.34 IU/g haemoglobin in non-anaemic males (n = 35) and non-anaemic males and females (n = 130) with normal G6PD genotypes using G6PD biosensor, respectively. Based on the adjusted median of 5.34 IU/g haemoglobin, the performance of G6PD biosensor against genotyping was as follows: at 30% cut-off, the sensitivity and specificity were 85.7% and 91.7%, respectively, and at 80% cut-off, the sensitivity was 100% while the specificity was 64.9%.Conclusions:Although this pilot study supports the utility of biosensor to screen for G6PD deficiency in patients, further investigation in parallel with spectrophotometry is required to promote and validate a more extensive use of this point-of-care device in areas where P. vivax is highly prevalent in Mauritania.