目的:探索分化抑制因子3及分化抑制因子4(inhibitor of differentiation 3 and inhibitor of differentiation 4,ID3/ID4)两基因在急性髓系白血病(acute myeloid leukemia,AML)患者骨髓中的表达及其临床意义。方法:应用实时荧光定量PCR...目的:探索分化抑制因子3及分化抑制因子4(inhibitor of differentiation 3 and inhibitor of differentiation 4,ID3/ID4)两基因在急性髓系白血病(acute myeloid leukemia,AML)患者骨髓中的表达及其临床意义。方法:应用实时荧光定量PCR的方法检测32例非恶性血液病(设对照组)及133例初诊AML患者骨髓单个核细胞中ID3/ID4转录本水平,通过分组分析两者表达的临床意义。结果:AML患者骨髓中ID3/ID4转录本水平较对照组均显著降低(P=0.001及0.002),并且两者之间表达存在轻度正相关(r=0.282,P=0.001)。接收者操作特征曲线分析揭示ID3/ID4转录本水平可作为辅助诊断AML的潜在分子标志(AUC=0.682,P=0.001及AUC=0.673,P=0.002)。通过分组分析发现ID3低表达组患者年龄略小于ID3高表达组患者(P=0.054),NRAS突变频率略低于ID3高表达组患者(P=0.053)。ID4低表达组患者白细胞计数略高于ID4高表达组患者(P=0.088),CEBPA突变频率略高于ID4高表达组患者(P=0.099)。此外,无论在全部患者还是非M3患者中,ID4低表达组病例经过诱导化疗后达完全缓解的概率略低于ID4高表达组病例(P=0.080及0.065)。生存分析发现AML患者及其亚组(非M3及正常核型)中ID3低表达与ID3高表达组患者总体生存相似(P>0.05),ID4低表达病例的总体生存略低于ID4高表达组病例(P=0.058),而在非M3及正常核型患者中存在显著统计学差异(P=0.014及0.002)。结论:ID3/ID4表达下调可能是AML中的常见分子事件,其中ID4表达可能为AML预后判断提供重要参考。展开更多
Studying on the genetic diversity and genetic relationship of flowering cherry cultivars is extremely important for germplasm conservation, cultivar identification and breeding. Flowering cherry is widely cultivated a...Studying on the genetic diversity and genetic relationship of flowering cherry cultivars is extremely important for germplasm conservation, cultivar identification and breeding. Flowering cherry is widely cultivated as an important woody ornamental plant in worldwide, especially Japan, China. However, owning to the morphological similarity, many cultivars are distinguished hardly in non-flowering season. Here, we evaluated the genetic diversity and genetic relationship of 40 flowering cherry cultivars, which are mainly cultivated in China. We selected 13 polymorphicprimers to amplify to allele fragments with fluorescent-labeled capillary electrophoresis technology. The population structure analysis results show that these cultivars could be divided into 4 subpopulations. At the population level, N<sub>a</sub> and N<sub>e</sub> were 6.062, 4.326, respectively. H<sub>o</sub> and H<sub>e</sub> were 0.458 and 0.670, respectively. The Shannon’s information index (I) was 1.417. The Pop3, which originated from P. serrulata, had the highest H<sub>o</sub>, H<sub>e</sub>, and I among the 4 subpopulations. AMOVA showed that only 4% of genetic variation came from populations, the 39% variation came from individuals and 57% (p < 0.05) came from intra-individuals. 5 polymorphic SSR primers were selected to construct molecular ID code system of these cultivars. This analysis on the genetic diversity and relationship of the 40 flowering cherry cultivars will help to insight into the genetic background, relationship of these flowering cherry cultivars and promote to identify similar cultivars.展开更多
先天性糖基化障碍Id型(congenital disorder of glycosylation type Id,CDG-Id)是由于ALG3基因变异,导致编码的α-1,3-甘露糖基转移酶缺陷。本例孕妇32岁,孕7产1,其中第5次单胎妊娠时外院超声提示胎儿畸形,引产后至复旦大学附属妇产科...先天性糖基化障碍Id型(congenital disorder of glycosylation type Id,CDG-Id)是由于ALG3基因变异,导致编码的α-1,3-甘露糖基转移酶缺陷。本例孕妇32岁,孕7产1,其中第5次单胎妊娠时外院超声提示胎儿畸形,引产后至复旦大学附属妇产科医院行基因检测提示为ALG3基因变异[NM_005787:c.67C>T(p.Gln23*),杂合,父源;NM_005787:c.1188G>A(p.Trp396*),杂合,母源]。本次单胎妊娠21周,我院产前超声表现为胎儿多发畸形,以小下颌、小脑蚓部缺失、后颅窝囊性占位、四肢长骨均短小、脊柱侧弯和手关节僵硬为主要表现。孕妇遂至外院引产,引产后基因检测结果证实仍为ALG3基因变异。本文重点介绍CDG-Id型的产前超声表现及遗传学特征,以提高对本病的认识。展开更多
2023年9月JAMA刊登了来自美国埃默里大学医学教授Carlos del Rio的文章:COVID-19 in the Fall of 2023-Forgotten but Not Gone,提出了COVID-19可能已被遗忘,但它并没有消失。医生和患者都应该把SARS-CoV-2列入引起重大呼吸系统疾病的...2023年9月JAMA刊登了来自美国埃默里大学医学教授Carlos del Rio的文章:COVID-19 in the Fall of 2023-Forgotten but Not Gone,提出了COVID-19可能已被遗忘,但它并没有消失。医生和患者都应该把SARS-CoV-2列入引起重大呼吸系统疾病的清单中,且保护最脆弱的人群仍是重点。虽然COVID-19不再是一个公共卫生威胁,但感染的增加在可预见的将来或许还会发生。展开更多
文摘目的:探索分化抑制因子3及分化抑制因子4(inhibitor of differentiation 3 and inhibitor of differentiation 4,ID3/ID4)两基因在急性髓系白血病(acute myeloid leukemia,AML)患者骨髓中的表达及其临床意义。方法:应用实时荧光定量PCR的方法检测32例非恶性血液病(设对照组)及133例初诊AML患者骨髓单个核细胞中ID3/ID4转录本水平,通过分组分析两者表达的临床意义。结果:AML患者骨髓中ID3/ID4转录本水平较对照组均显著降低(P=0.001及0.002),并且两者之间表达存在轻度正相关(r=0.282,P=0.001)。接收者操作特征曲线分析揭示ID3/ID4转录本水平可作为辅助诊断AML的潜在分子标志(AUC=0.682,P=0.001及AUC=0.673,P=0.002)。通过分组分析发现ID3低表达组患者年龄略小于ID3高表达组患者(P=0.054),NRAS突变频率略低于ID3高表达组患者(P=0.053)。ID4低表达组患者白细胞计数略高于ID4高表达组患者(P=0.088),CEBPA突变频率略高于ID4高表达组患者(P=0.099)。此外,无论在全部患者还是非M3患者中,ID4低表达组病例经过诱导化疗后达完全缓解的概率略低于ID4高表达组病例(P=0.080及0.065)。生存分析发现AML患者及其亚组(非M3及正常核型)中ID3低表达与ID3高表达组患者总体生存相似(P>0.05),ID4低表达病例的总体生存略低于ID4高表达组病例(P=0.058),而在非M3及正常核型患者中存在显著统计学差异(P=0.014及0.002)。结论:ID3/ID4表达下调可能是AML中的常见分子事件,其中ID4表达可能为AML预后判断提供重要参考。
文摘Studying on the genetic diversity and genetic relationship of flowering cherry cultivars is extremely important for germplasm conservation, cultivar identification and breeding. Flowering cherry is widely cultivated as an important woody ornamental plant in worldwide, especially Japan, China. However, owning to the morphological similarity, many cultivars are distinguished hardly in non-flowering season. Here, we evaluated the genetic diversity and genetic relationship of 40 flowering cherry cultivars, which are mainly cultivated in China. We selected 13 polymorphicprimers to amplify to allele fragments with fluorescent-labeled capillary electrophoresis technology. The population structure analysis results show that these cultivars could be divided into 4 subpopulations. At the population level, N<sub>a</sub> and N<sub>e</sub> were 6.062, 4.326, respectively. H<sub>o</sub> and H<sub>e</sub> were 0.458 and 0.670, respectively. The Shannon’s information index (I) was 1.417. The Pop3, which originated from P. serrulata, had the highest H<sub>o</sub>, H<sub>e</sub>, and I among the 4 subpopulations. AMOVA showed that only 4% of genetic variation came from populations, the 39% variation came from individuals and 57% (p < 0.05) came from intra-individuals. 5 polymorphic SSR primers were selected to construct molecular ID code system of these cultivars. This analysis on the genetic diversity and relationship of the 40 flowering cherry cultivars will help to insight into the genetic background, relationship of these flowering cherry cultivars and promote to identify similar cultivars.
文摘先天性糖基化障碍Id型(congenital disorder of glycosylation type Id,CDG-Id)是由于ALG3基因变异,导致编码的α-1,3-甘露糖基转移酶缺陷。本例孕妇32岁,孕7产1,其中第5次单胎妊娠时外院超声提示胎儿畸形,引产后至复旦大学附属妇产科医院行基因检测提示为ALG3基因变异[NM_005787:c.67C>T(p.Gln23*),杂合,父源;NM_005787:c.1188G>A(p.Trp396*),杂合,母源]。本次单胎妊娠21周,我院产前超声表现为胎儿多发畸形,以小下颌、小脑蚓部缺失、后颅窝囊性占位、四肢长骨均短小、脊柱侧弯和手关节僵硬为主要表现。孕妇遂至外院引产,引产后基因检测结果证实仍为ALG3基因变异。本文重点介绍CDG-Id型的产前超声表现及遗传学特征,以提高对本病的认识。
文摘2023年9月JAMA刊登了来自美国埃默里大学医学教授Carlos del Rio的文章:COVID-19 in the Fall of 2023-Forgotten but Not Gone,提出了COVID-19可能已被遗忘,但它并没有消失。医生和患者都应该把SARS-CoV-2列入引起重大呼吸系统疾病的清单中,且保护最脆弱的人群仍是重点。虽然COVID-19不再是一个公共卫生威胁,但感染的增加在可预见的将来或许还会发生。
