外源质粒DNA对小鼠肝脏基因表达谱的影响

研究了外源质粒DNA经胃肠道吸收可能对肝脏产生的作用机制。给Balb／c小鼠灌胃质粒pcDNA3 200μg，在灌胃后4h分离肝脏，提取肝脏的总RNA。利用寡核苷酸芯片对灌胃质粒pcDNA3后的Balb／c小鼠肝脏进行基因表达谱研究。结果发现17664个基因中，表达上调100条，表达下调41条。按基因功能分类，表达上调的基因可分为免疫应答基因、转录因子基因、信号转导基因、转运相关基因及代谢相关基因等；表达下调的基因主要为脂质代谢基因。灌胃外源质粒DNA后，肝脏组织主要表现为急性时相反应的加强、免疫反应的活化、细胞信号通路的活化以及脂质代谢途径的抑制。表明外源质粒DNA通过胃肠道途径可广泛调控肝脏的基因表达。     

7例孤立性骨浆细胞瘤的临床分析

目的 探讨孤立性骨浆细胞瘤的诊断和治疗,总结其临床特点,以提高临床诊治水平.方法 收集中山大学孙逸仙纪念医院白2007年4月至2011年6月收治7例孤立性骨浆细胞瘤患者的临床资料并对其临床特点、诊断标准及治疗和预后作一回顾性分析.结果 所有病例均经病理证实为骨浆细胞瘤并符合孤立性骨浆细胞瘤的诊断标准,其中1例伴POEMS综合征(多神经病、器官巨大症、内分泌病、M蛋白和皮肤病变综合征),1例术后6个月出现多处骨转移.所有患者治疗后随访1~13个月,平均随访时间为4个月.其中5例患者预后良好,随访期间未出现病情进展.结论 孤立性骨浆细胞瘤好发于中老年,是少见的低度恶性肿瘤.主要依靠病理确诊,手术结合适当剂量的放疗是其治疗的最佳手段.     

提高化疗强度对伴IKZF1基因缺失儿童急性淋巴细胞白血病预后的影响

目的 总结伴IKZF1基因缺失儿童急性淋巴细胞白血病（ALL）的临床特征并观察提高化疗强度对其预后的影响。方法 2015年12月至2018年2月间确诊并按照中国儿童白血病协作组-ALL 2008（CCLG-ALL 2008）方案规范治疗的ALL患儿共278例,根据有无IKZF1基因缺失将其分为IKZF1基因缺失组和IKZF1基因正常组,IKZF1基因缺失组均接受CCLG-ALL 2008高危（HR）方案治疗,IKZF1基因正常组则按临床危险度分型接受不同强度化疗,比较两组的临床特征及无事件生存（EFS）率。结果 278例患儿中共24例（8.6%）检出IKZF1基因外显子大片段缺失。IKZF1基因缺失组初诊时WBC ≥ 50×10⁹/L、BCR-ABL1融合基因阳性、诱导缓解治疗第15天微小残留病≥ 10%、微小残留病-HR、临床危险度-HR所占比例均高于IKZF1基因正常组（P < 0.05）。IKZF1基因缺失组3年EFS率（76%±10%）低于IKZF1基因正常组（84%±4%）,但差异无统计学意义（P=0.282）;其中,IKZF1基因缺失组-非HR（实际按CCLG-ALL 2008 HR方案化疗）的预计3年EFS率为82%±12%,低于IKZF1基因正常组-非HR（86%±5%）,但差异无统计学意义（P=0.436）。结论 伴IKZF1基因缺失的儿童ALL早期治疗反应更差,提高化疗强度可能改善其预后。     

IgM抗体诊断早期先天梅毒

我们用梅毒特异性19（s)IgM-TPPA抗体检测方法，对5例常规梅毒血清学方法RPR和TPPA两个试验均阳性的新生儿（其母亲已在怀孕时被确诊为不同病期梅毒）进行了检测。患儿中有3例19（s)IgM-TPPA阳性，另2例阴性。最终确诊3例新生儿为先天梅毒。特异性IgM检测应该作为新生儿和早期无症状先天梅毒确诊的实验诊断方法。加强婚前、孕前及早孕期的梅毒筛查和治疗，对控制先天梅毒的发生有重要意义。     

Sea-blue histiocyte syndrome in bone marrow secondary to total parenteral nutrition including fat-emulsion sources: a clinicopathologic study of seven cases

Bone marrow examination revealed a lipid-laden histiocytosis in seven patients undergoing long-term total parenteral nutrition necessitated by extensive short-bowel surgical resection. Clinical abnormalities occurred during this treatment which required bone marrow examination. These included hepatosplenomegaly and peripheral blood cytopenia; the median time to the detection of these abnormalities was 64 months.   The most striking change within the bone marrow was the presence of many pigment-laden histiocytes which had the typical morphology of sea-blue histiocytes seen in the so-called idiopathic sea-blue histiocyte syndrome. The occurrence of sea-blue histiocytosis in the bone marrow in association with long-term parenteral nutrition for short-bowel syndrome has not, to our knowledge, been reported previously and should now be considered in the differential diagnosis of bone marrow sea-blue histiocytosis.     

Autologous bone marrow transplantation for acute myeloid leukemia using busulfan plus etoposide as a preparative regimen

We have studied the use of a new preparative regimen for the treatment of patients in remission of acute myeloid leukemia (AML) with autologous bone marrow transplantation. Chemotherapy consisted of busulfan 1 mg/kg every 6 hours for 4 days (total dose, 16 mg/kg) on days -7 through -4 followed by an intravenous infusion over 6 to 10 hours of etoposide 60 mg/kg on day -3. Autologous bone marrow, treated in vitro with 100 micrograms/mL of 4-hydroperoxycyclophosphamide, was infused on day 0. We have treated 58 patients up to the age of 60 years, 32 in first remission, 21 in second or third remission, and 5 with primary refractory AML unresponsive to high-dose Ara-C, but achieving remission with aggressive salvage regimens. Of the first remission patients, there has been 1 treatment related death and 5 relapses. With median follow-up of 22 months, the actuarial relapse rate is 22% +/- 9% and disease-free survival is 76% +/- 9% at 3 years. Patients with favorable French-American-British (FAB) subtypes (M3 or M4 EO) did especially well, with no relapses seen in 15 patients observed for a median of 30 months. Actuarial relapse rate at 3 years was 48% for first remission patients with less favorable FAB subtypes. Of patients in second or third remission, there were 5 treatment related deaths and 4 relapses. With median follow-up of 22 months, the actuarial relapse rate is 25% +/- 11% and disease-free survival is 56% +/- 11% at 3 years. Four of five primary refractory patients died during treatment and 1 remains in remission with short follow-up. These preliminary data are very encouraging and, if confirmed, support the use of autologous purged bone marrow transplantation using aggressive preparative regimens as one approach to improve the outcome of adults with AML.     

肺癌患者血浆cofilin蛋白含量检测在肺癌诊断中的应用分析

目的探讨血浆cofilin蛋白检测对诊断肺癌的价值。方法随机抽取60例肺癌患者作为实验组,80例健康体检者为对照组,检测两组血浆cofilin蛋白含量并比较。结果实验组血浆cofilin蛋白水平(0.538±0.145)ng/ml,对照组(0.187±0.132)ng/ml,实验组高于对照组(t=14.924,P=0.000);方差分析,实验组的三个临床分期的血浆cofilin蛋白水平差异有统计学意义(F=12.382,P0.05),Ⅲ期、Ⅳ期的血浆cofilin蛋白水平高于Ⅱ期(t=3.529,P=0.001;t=5.674,P=0.000),Ⅳ期高于Ⅲ期(t=2.085,P=0.045)。结论血浆cofilin蛋白的检测对诊断肺癌有重要参考价值,肺癌患者的血浆cofilin蛋白含量高于健康者,且临床分期越晚含量越高。