全反式维甲酸三氧化二砷联合化疗治疗儿童急性早幼粒白血病的疗效分析

目的评价全反式维甲酸(ATRA)、三氧化二砷(As2O3)的联合化疗治疗方案对儿童急性早幼粒细胞性白血病(APL)的疗效。 方法1995-07—2005-06在中山大学附属二院及广州市儿童医院共有14例患儿接受了含ATRA、As2O3的联合化疗方案，其中男10例，女4例；年龄 2.1~12岁，平均6.7岁。所有病例起病时均有贫血、皮肤瘀斑或牙龈出血等表现；骨髓检查原始＋幼稚细胞比例为59.0%~97.5%，其中M3a 9例， M3b 5例；8例患儿行PML-RARα融合基因检测，其中阳性6例。比较不同细胞学类型、化疗方案等对APL的疗效及对复发率的影响。 结果14例中有12例(85.71%)使用上述的诱导缓解方案达到骨髓(BM)缓解CR1，由开始治疗到BM CR1的中位时间为5周(2~9周)；该组病例使用 As2O3、DA、HA、EA、DEA序贯或同时联合其它化疗的巩固方案，共2例复发，均为M3b；用不同的巩固方案对APL复发影响差异无显著性 (P=0.195)；含As2O3的方案进行维持治疗可能减少APL患儿的复发；是否加用VP/6MP+MTX序贯维持治疗对控制复发差异无显著性(P=0.66)。 结论含ATRA、As2O3的联合化疗方案对儿童APL是一种有效的治疗方法，可以减少复发。     

艾杜糖-2-硫酸酯酶活性测定在黏多糖贮积病Ⅱ型产前诊断中的应用

目的评估黏多糖贮积病Ⅱ型(MPSⅡ)高危孕妇胎儿绒毛和孕妇外周血血浆艾杜糖-2-硫酸酯酶(IDS)活性以及基因分析在MPSⅡ产前诊断中的应用。方法回顾性分析2013年2月至2020年12月在广州市妇女儿童医疗中心进行产前诊断的23例MPSⅡ高危孕妇的酶学检测及基因分析结果, 采用人工底物荧光法检测胎儿绒毛(30例)和血浆(28例)IDS酶活性, 以非高危妊娠孕妇的28例绒毛和34例血浆检测值为对照, 绒毛同时送检基因检测和胎儿性别鉴定。组间比较采用独立样本t检验。结果非MPSⅡ高危孕妇胎儿绒毛和血浆IDS活性正常参考值为绒毛(71.2±23.4) nmol/(mg·4 h), 血浆(611.1±114.5) nmol/(mL·4 h);30例高危胎儿绒毛中8例男性受累胎儿绒毛IDS酶活性为(1.7±0.3) nmol/(mg·4 h), 显著低于11例男性非受累胎儿[(83.2±6.3) nmol/(mg·4 h)]和9例女性非携带者胎儿[(80.0±7.5) nmol/(mg·4 h)](t=10.8、8.8, 均P<0.01)。28份MPSⅡ高危孕妇外周血血浆IDS酶活性中8...     

广州市原发性肉碱缺乏症新生儿筛查评估及SLC22A5基因变异谱特征

目的评估原发性肉碱缺乏症(PCD)新生儿筛查性能、优化筛查指标,并探讨广州地区PCD发病率及SLC22A5基因变异特点。方法广州市新生儿筛查中心采用串联质谱法对辖区内2015至2019年出生的200 180名新生儿进行多种遗传代谢病筛查,以游离肉碱(C0)<10 μmol/L伴多种酰基肉碱降低为PCD筛查阳性,召回新生儿及其母亲复查,复查仍阳性者进行SLC22A5基因测序确诊。回顾性分析筛查结果,同时以丙酰基肉碱与棕榈酰基肉碱之和(C3+C16)作为多种酰基肉碱的辅助量化指标,并评估其效果。PCD新生儿及PCD母亲所生新生儿血酰基肉碱水平比较采用独立样本t检验。以广州地区2 395名健康儿童外显子测序中SLC22A5基因结果计算人群致病变异携带率,推算PCD发病率。结果在200 180名新生儿中筛查阳性239例,阳性率0.12%,确诊PCD 37例,其中PCD新生儿15例,PCD母亲22例,新生儿PCD发病率为1/13 345,分娩母亲人群PCD发病率约为1/9 099,阳性预测值15.5%。初筛C0<10 μmol/L共810例,增加量化指标(C3+C16),以C0<...     

Quantification of the iduronate-2-sulfatase activity in prenatal diagnosis of mucopolysaccharidosis type n北大核心CSCD

Objective To evaluate the activity of iduronate-2-sulfatase (IDS) in fetal villi and peripheral blood plasma of pregnant women at high risk of mucopolysaccharidosis type II (M P S II), a n d to discuss t h e application of gene analysis in prenatal diagnosis of MPS II. M e t h o d s The enzymatic testing and gene analysis results of 23 pregnant women at high risk of MPS II, who underwent prenatal diagnosis in Guangzhou Women and C h i l d r e n ' s Medical Center from February 2013 to December 2 0 2 0, w e r e analyzed retrospectively. The IDS activity in fetal villi (3 0 c a s e s) and plasma (2 8 c a s e s) was detected by artificial substrate fluorescence. The IDS activity in fetal villi (2 8 c a s e s) and plasma (3 4 c a s e s) of normal pregnant women was taken as control. M e a n w h i l e, the fetal villi of both pregnant women at high risk of MPS II and normal pregnant women were also analyzed by gene testing and for fetal sex identification. Data were compared between groups by t h e i n d e p e n d e n t samples t test. R e s u l t s The normal reference values of the IDS activity in fetal villi and plasma of normal pregnant women w e r e (7 1 . 2 ± 2 3 . 4) n m o l / (m g • 4 h) and (6 1 1 . 1 ± 1 1 4 . 5) n m o l / (m L * 4 h), respectively. Among the 30 cases of high-risk fetal v i l l i, the IDS activity in fetal villi of 8 affected male fetuses was (1 . 7 ± 0 . 3) n m o l / (mg • 4 h), which was significantly lower than that of 11 unaffected male fetuses (8 3 . 2 ± 6. 3) n m o l / (m g - 4 h) and that of 9 n o n - c a r r i e r female fetuses (8 0 . 0 ± 7. 5) n m o l / (m g - 4 h) (t = 10. 8, 8. 8; all P < 0. 0 1) . M e a n w h i l e, t h e IDS activity was m e a s u r e d in t h e m a t e r n a l p e r i p h e r a l p l a s m a of 28 p r e g n a n t women at high risk of MPS II • Among t h e m, t h e IDS activity in 8 affected male fetuses w a s (2 2 5 . 4 ± 2 0 . 5) n m o l / (m L • 4 h), w h i c h was significantly lower t h a n that in non-affected male fetuses[ (4 5 1 . 0 ± 1 5. 1) n m o l / (mL • 4 h) ] and that in n o n - c a r r i e r female fetuses[ (4 6 7 . 7 ± 4 5 . 3) n m o l / (m L • 4 h) ]. Eight known pathogenic mutations were found i n 3 0 c a s e s a t high risk of MPS II of fetal v i l l i, a n d the mutation types were c. 1048A > C, c. 2 1 2 G > A, c. 5 1 4 C > T, c. 2 5 7 C > T, C. 4 2 5 C > T, a n d C. 9 9 8 C > T . O f t h e 8 c a s e s, 6 affected male fetuses h a d significantly r e d u c e d IDS a c t i v i t i e s, and the other 2 female carriers had normal IDS enzyme activities. Conclusions The IDS activity in fetal villi and peripheral plasma of pregnant woman is consistent with the gene analysis results. The IDS activity has an important reference value for the prenatal diagnosis of MPS II in the first trimester. When no genetic mutations are found in the probands or the pathogenicity of the new mutation remains unclear,the IDS activity in fetal villi can be detected separately for the prenatal diagnosis of MPS H © 2019 Chinese Journal of Experimental Traditional Medical Formulae. All rights reserved.