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
We recently presented the case of a first century AD young woman, found in the archaeological site of Cosa, showing clinical signs of malnutrition, such as short height, osteoporosis, dental enamel hypoplasia and crib...We recently presented the case of a first century AD young woman, found in the archaeological site of Cosa, showing clinical signs of malnutrition, such as short height, osteoporosis, dental enamel hypoplasia and cribra orbitalia, indirect sign of anemia, all strongly suggestive for celiac disease (CD). However, whether these findings were actually associated to CD was not shown based on genetic parameters. To investigate her human leukocyte antigen (HLA) class Ⅱ polymorphism, we extracted DNA from a bone sample and a tooth and genotyped HLA using three HLA-tagging single nucleotide polymorphisms for DQ8, DQ2.2 and DQ2.5, specifically associated to CD. She displayed HLA DQ 2.5, the haplotype associated to the highest risk of CD. This isthe first report showing the presence of a HLA haplotype compatible for CD in archaeological specimens.展开更多
Polyploidy is common among agriculturally important crops. Popular genetic methods and their implementations cannot always be applied to polyploid genetic data. We give an overview about available tools and their limi...Polyploidy is common among agriculturally important crops. Popular genetic methods and their implementations cannot always be applied to polyploid genetic data. We give an overview about available tools and their limitations in terms of levels of ploidy, auto- and allo-ploidy. The main classes of tools are genotype calling, linkage mapping and haplotyping. The usability of the tools is discussed with a focus on their applicability to data sets produced by state of the art technologies. We show that many challenges remain until the toolset for polyploidy provides similar functionalities as those which are already available for diploids. Some tools have been developed over a decade ago and are now outdated. In addition, we discuss necessary steps to overcome this shortage in the future.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We recently presented the case of a first century AD young woman, found in the archaeological site of Cosa, showing clinical signs of malnutrition, such as short height, osteoporosis, dental enamel hypoplasia and cribra orbitalia, indirect sign of anemia, all strongly suggestive for celiac disease (CD). However, whether these findings were actually associated to CD was not shown based on genetic parameters. To investigate her human leukocyte antigen (HLA) class Ⅱ polymorphism, we extracted DNA from a bone sample and a tooth and genotyped HLA using three HLA-tagging single nucleotide polymorphisms for DQ8, DQ2.2 and DQ2.5, specifically associated to CD. She displayed HLA DQ 2.5, the haplotype associated to the highest risk of CD. This isthe first report showing the presence of a HLA haplotype compatible for CD in archaeological specimens.
文摘Polyploidy is common among agriculturally important crops. Popular genetic methods and their implementations cannot always be applied to polyploid genetic data. We give an overview about available tools and their limitations in terms of levels of ploidy, auto- and allo-ploidy. The main classes of tools are genotype calling, linkage mapping and haplotyping. The usability of the tools is discussed with a focus on their applicability to data sets produced by state of the art technologies. We show that many challenges remain until the toolset for polyploidy provides similar functionalities as those which are already available for diploids. Some tools have been developed over a decade ago and are now outdated. In addition, we discuss necessary steps to overcome this shortage in the future.
