目的:探讨成人T细胞白血病-淋巴瘤(adult T cell leukemia-lymphoma,ATL)的临床特征及治疗。方法:回顾分析我院1例ATL的临床病理特征、治疗转归,并进行相关文献复习。结果:患者女性,44岁,祖籍福建,以皮疹、腹胀及水肿为首发表现,影像学...目的:探讨成人T细胞白血病-淋巴瘤(adult T cell leukemia-lymphoma,ATL)的临床特征及治疗。方法:回顾分析我院1例ATL的临床病理特征、治疗转归,并进行相关文献复习。结果:患者女性,44岁,祖籍福建,以皮疹、腹胀及水肿为首发表现,影像学检查提示全身多发代谢增高肿大淋巴结、脾大,腋窝淋巴结、腹壁皮肤活检提示外周T细胞淋巴瘤;经预治疗及多次化疗后效果欠佳,行HTLV I-RNA检测为阳性,诊断ATL急性型明确,后选择其子作为供者行单倍型异基因造血干细胞移植,移植后随访15个月至2022年04月仍存活。结论:由于北方地区HTLV-1感染率较低,遇到化疗效果欠佳的外周T细胞淋巴瘤时需考虑到ATL可能,尽早行相关病毒学检测以尽快明确诊断。单倍型异基因造血干细胞移植可以为ATL患者改善长期预后带来希望。展开更多
Objective The detection of RNA single nucleotide polymorphism(SNP)is of great importance due to their association with protein expression related to various diseases and drug responses.At present,splintR ligase-assist...Objective The detection of RNA single nucleotide polymorphism(SNP)is of great importance due to their association with protein expression related to various diseases and drug responses.At present,splintR ligase-assisted methods are important approaches for RNA direct detection,but its specificity will be limited when the fidelity of ligases is not ideal.The aim of this study was to create a method to improve the specificity of splintR ligase for RNA detection.Methods In this study,a dualcompetitive-padlock-probe(DCPLP)assay without the need for additional enzymes or reactions is proposed to improve specificity of splintR ligase ligation.To verify the method,we employed dual competitive padlock probe-mediated rolling circle amplification(DCPLP-RCA)to genotype the CYP2C9 gene.Results The specificity was well improved through the competition and strand displacement of dual padlock probe,with an 83.26%reduction in nonspecific signal.By detecting synthetic RNA samples,the method demonstrated a dynamic detection range of 10 pmol/L-1 nmol/L.Furthermore,clinical samples were applied to the method to evaluate its performance,and the genotyping results were consistent with those obtained using the qPCR method.Conclusion This study has successfully established a highly specific direct RNA SNP detection method,and provided a novel avenue for accurate identification of various types of RNAs.展开更多
文摘目的:探讨成人T细胞白血病-淋巴瘤(adult T cell leukemia-lymphoma,ATL)的临床特征及治疗。方法:回顾分析我院1例ATL的临床病理特征、治疗转归,并进行相关文献复习。结果:患者女性,44岁,祖籍福建,以皮疹、腹胀及水肿为首发表现,影像学检查提示全身多发代谢增高肿大淋巴结、脾大,腋窝淋巴结、腹壁皮肤活检提示外周T细胞淋巴瘤;经预治疗及多次化疗后效果欠佳,行HTLV I-RNA检测为阳性,诊断ATL急性型明确,后选择其子作为供者行单倍型异基因造血干细胞移植,移植后随访15个月至2022年04月仍存活。结论:由于北方地区HTLV-1感染率较低,遇到化疗效果欠佳的外周T细胞淋巴瘤时需考虑到ATL可能,尽早行相关病毒学检测以尽快明确诊断。单倍型异基因造血干细胞移植可以为ATL患者改善长期预后带来希望。
文摘Objective The detection of RNA single nucleotide polymorphism(SNP)is of great importance due to their association with protein expression related to various diseases and drug responses.At present,splintR ligase-assisted methods are important approaches for RNA direct detection,but its specificity will be limited when the fidelity of ligases is not ideal.The aim of this study was to create a method to improve the specificity of splintR ligase for RNA detection.Methods In this study,a dualcompetitive-padlock-probe(DCPLP)assay without the need for additional enzymes or reactions is proposed to improve specificity of splintR ligase ligation.To verify the method,we employed dual competitive padlock probe-mediated rolling circle amplification(DCPLP-RCA)to genotype the CYP2C9 gene.Results The specificity was well improved through the competition and strand displacement of dual padlock probe,with an 83.26%reduction in nonspecific signal.By detecting synthetic RNA samples,the method demonstrated a dynamic detection range of 10 pmol/L-1 nmol/L.Furthermore,clinical samples were applied to the method to evaluate its performance,and the genotyping results were consistent with those obtained using the qPCR method.Conclusion This study has successfully established a highly specific direct RNA SNP detection method,and provided a novel avenue for accurate identification of various types of RNAs.
