A novel mutation in the last exon of ATRX in a patient with α-thalassemia myelodysplastic syndrome

Abstract:  We describe a patient with acquired alpha-thalassemia myelodysplastic syndrome (ATMDS). A previously healthy 66-year-old man presented with hemoglobin of 9.3 g/dL, mean corpuscular volume 59 fL, and a bone marrow aspirate with increased erythroid precursors and hypolobulated megakaryocytes. Hemoglobin H inclusions were seen in most red cells after 1% brilliant cresyl blue supravital stain of the peripheral blood. At the molecular level, we identified of a novel mutation in the most 3' exon of the ATRX gene ( C GA→ T GA substitution in codon 2407) resulting in a premature termination codon (p.R2407X). This case provides further evidence for a link between ATRX mutations and ATMDS, and suggests a possible role for the conserved Q-box element in ATRX function.     

溃疡散预防消化性溃疡复发临床观察

目的 :观察溃疡散对消化性溃疡的抗复发治疗的临床效果。方法 :随机将 80例患者分成溃疡散治疗组 (4 2例 )和雷尼替丁对照组 (38例 )并同时观察两组患者治疗前后溃疡复发情况。结果 :治疗后治疗组溃疡复发率明显低于对照组 ,P <0 .0 1,两组对比有非常显著性差异。结论 :治疗组能明显的改善患者临床症状和降低消化性溃疡复发率。     

急进高海拔大鼠肾素-血管紧张素-醛固酮系统的对比性研究

目的：探讨急进高海拔地区机体对低压、低氧环境的适应机制；方法：将海拔10m处的平原大鼠快速带至海拔2261m，再带入海拔3800m处，用放射免疫法测定大鼠血浆肾素、血管紧张素Ⅱ和醛固酮的浓度；结果：随海拔递增①大鼠肾素及血管紧张素Ⅱ含量呈上升趋势，醛固酮浓度逐渐下降，统计学处理有显著性差异；②急进高海拔地区，醛固酮对血管紧张素Ⅱ的反应钝化，使醛固酮处于低水平状态；结论：上述结果提示：急进高海拔，机体对水、电解质的调节会发生变化，这些变化有利于急性高原适应。     

清燥救肺汤加减治疗依那普利所致咳嗽临床研究

目的 :观察清燥救肺汤加减治疗依那普利所致咳嗽疗效。方法 :设清燥救肺汤组与复方甘草片组对照观察疗效及对血压的影响。结果 :与对照组比较 ,疗效有显著差异 ,P <0 .0 1;血压有明显改善 ,P <0 .0 5。结论 :清燥救肺汤用于治疗依那普利所致咳嗽疗效肯定。     

人胎盘微绒毛膜的制备及其转铁蛋白受体研究

作者分别用差速离心法及蔗糖梯度离心法制备胎盘微绒毛膜(PMM),用受体放射分析法研究了PMM的转铁蛋白受体(TfB),结果表明:两种方法制备的PMM均可用于受体分析,但差速离心法更为简便。测定60例产妇PMM的TfR,其数目为3.53±1.98×10~(12)个位点/mg膜蛋白,最大结合容量为6.33±4.21×10~(-12)mol/mg膜蛋白,Kd值为4.95±3.39×10~(-9)mol/L。受体结合反应体系最适实验条件为,膜蛋白浓度每管50μg,标记物浓度每管50 000cpm,孵育30分钟,B/F分离的聚乙二醇浓度为12％(W/V)。对TfR的特性研究表明:TfR与转铁蛋白的结合具有高度亲和力、高度特异性及可饱和性。     

Efficacy of Lung Cancer Screening; Comparison of Results from a Case-Control Study and a Survival Analysis

A case-control study to evaluate the efficacy of lung cancer screening conducted by us showed that lung cancer screening may reduce the mortality of the disease up to 28%. Assuming this efficacy is unbiased, and that the screening rate is 51.6%, which was observed in the control group in the above study, the number of lung cancer deaths prevented by screening in the study period was calculated to be 47 for males and females combined. In the same study population, screen-detected lung cancer patients (N = 207) in the same study period were followed and the 7-year survival rate (46.9%) was compared to the 5-year survival rate (11.3%) obtained by the Osaka Cancer Registry, in which screen-detected lung cancer patients were only 1.8%. The number of lung cancer deaths prevented by screening, estimated by the difference in the above two survival rates, was 74 (95% confidence interval; 55–93). The number of lung cancer deaths prevented by screening estimated from the case-control study was significantly lower than that estimated from the survival analysis. This indicates that the efficacy of lung cancer screening estimated by the case-control study was within the range that could be explained by the actual long-term survivors among the screen-detected patients in the study population.     

Oral mifepristone 600 mg and vaginal gemeprost for mid-trimester induction of abortion: An open multicenter study

This open multicenter study was performed in 20 hospital gynecological units in the UK. The effects of 600 mg oral mifepristone as pretreatment to vaginal prostaglandin induction of second second trimester abortion was studied in 267 women.

The primary efficacy variable was the abortion induction interval, defined as the time taken to expel the fetus from the time of administration of the first prostaglandin pessary. Induction was commenced 36 to 48 hours following mifepristone intake.

The mean abortion induction interval was 7 h. A total of 81.9% of women aborted within 12 h. There was a significant relationship between abortion induction interval and age of gestation, and a significant inverse relationship between abortion induction interval and parity.

Vomiting, pelvic pain, and nausea were the most frequently reported adverse events. Two patients required transfusion and one patient with a uterine scar from a previous cesarean section suffered a ruptured uterus and hysterotomy.     

白内障显微囊外摘除联合小梁切除术

报告20例(21眼)青光眼白内障并存患者采用显微囊外摘除联合小梁切除术.术后眼压控制满意,滤过泡形成,视力不同程度提高,无明显并发症.并对有关机制,手术优点及不易控制的眼压问题进行了讨论.