A combination of nucleos(t)ides and hepatitis B immunoglobulin (HBIg) has been found to be effective for the prevention of hepatitis B viral (HBV) reinfection after liver transplantation (LT),but its administration is...A combination of nucleos(t)ides and hepatitis B immunoglobulin (HBIg) has been found to be effective for the prevention of hepatitis B viral (HBV) reinfection after liver transplantation (LT),but its administration is costly,and not always available. We report the case of a male,33-year-old cirrhotic patient who has tested positive for serum HBsAg,and HBeAg,with 9.04 × 107 copies/mL of HBV DNA. He suffered from acute liver failure and was near death before undergoing emergency LT. No HBIg was available at the time,so only lamivudine was used. He routinely received immunosuppression medication. Serum HBV DNA and HBsAg still showed positive post-LT,and the graft re-infected. Hepatitis B flared three months later. Adefovir dipivoxil was added to the treatment,but in the 24th mo of treatment,the patient developed lamivudine resistance and a worsening of the hepatitis occurred shortly thereafter. The treatment combination was then changed to a double dosage of entecavir and the disease was gradually resolved. After 60-mo of post-LT nucleos(t)ide analogue therapy,anti-HBs seroconverted,and the antiviral was stopped. By the end of a 12-mo follow-up,the patient had achieved sustained recovery. In conclusion,the case seems to point to evidence that more potent and less resistant analogues like entecavir might fully replace HBIg as an HBV prophylaxis and treatment regimen.展开更多
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
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
文摘A combination of nucleos(t)ides and hepatitis B immunoglobulin (HBIg) has been found to be effective for the prevention of hepatitis B viral (HBV) reinfection after liver transplantation (LT),but its administration is costly,and not always available. We report the case of a male,33-year-old cirrhotic patient who has tested positive for serum HBsAg,and HBeAg,with 9.04 × 107 copies/mL of HBV DNA. He suffered from acute liver failure and was near death before undergoing emergency LT. No HBIg was available at the time,so only lamivudine was used. He routinely received immunosuppression medication. Serum HBV DNA and HBsAg still showed positive post-LT,and the graft re-infected. Hepatitis B flared three months later. Adefovir dipivoxil was added to the treatment,but in the 24th mo of treatment,the patient developed lamivudine resistance and a worsening of the hepatitis occurred shortly thereafter. The treatment combination was then changed to a double dosage of entecavir and the disease was gradually resolved. After 60-mo of post-LT nucleos(t)ide analogue therapy,anti-HBs seroconverted,and the antiviral was stopped. By the end of a 12-mo follow-up,the patient had achieved sustained recovery. In conclusion,the case seems to point to evidence that more potent and less resistant analogues like entecavir might fully replace HBIg as an HBV prophylaxis and treatment regimen.
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。
