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。     

基于多层次集成学习的骨质疏松辅助诊断研究

目的 原发性骨质疏松是一种起病隐匿、病程较长,在中老年人中高发的疾病,其可引起包括骨折在内的一系列严重症状,是我国中老年人致残致死的主要原因之一。与骨质疏松相关的生理检验指标有很多,如何筛选利用这些指标为诊断服务、建立诊断模型,尚未有成熟、统一的方法。方法 利用人工智能相关技术,对临床骨质疏松患者指标使用多种特征相关性算法进行特征选择,并在此基础上提出了一种多层次的集成学习框架：SAB-SVMKNN算法,其通过将内部同质学习器集成和外部异质学习器集成结合,将集成学习中的Boosting算法和Bagging算法使用Stacking进行集成,构建性能更强,适应性更好地诊断预测模型。结果 使用特征选择从原始数据中的31项临床指标中筛选了对于骨质疏松最重要的8种相关特征,通过这种方式使各模型准确率平均提高了9.2%,且该研究对应的模型准确率提升18.6%,最终达到了94.8%的准确率。结论 特征选择对于临床诊断和骨质疏松疾病的研究具有重要意义,该研究构建的预测模型可以有助于提高医生的诊断准确率。     

MR imaging of facial nerve enhancement in Bell palsy or after temporal bone surgery

The authors evaluated magnetic resonance (MR) images obtained with intravenously administered gadolinium in ten patients who had facial paralysis and no facial nerve tumor. In patients with either Bell palsy (four patients) or facial paralysis after temporal bone surgery (six patients), intratemporal facial nerve enhancement was seen. Facial nerve enhancement on MR images proved to be a nonspecific finding.     

齐刺法配合穴位注射治疗腰椎间盘突出症的临床观察

目的观察齐刺法配合穴位注射对腰椎间盘突出症患者临床疗效、镇痛效果及对血浆炎症因子IL—1β水平对影响。方法将60例符合腰椎间盘突出症诊断标准对患者按就诊先后顺序随机分为治疗组和对照组各30例。治疗组采用齐刺法配合穴位注射病变腰椎间盘相对应的夹脊穴及随证加减穴位。对照组采用针刺病变腰椎间盘相对应的夹脊穴及委中穴,两组取穴均为双侧。结果治疗2周后,治疗组总有效率高于对照组（P〈0．05）。2组患者在临床疗效、麦吉尔疼痛量表积分和血浆血浆炎症因子IL—1β水平方面治疗后有显著性差异（P〈0．05）。结论齐刺法配合穴位注射能显著提高腰椎间盘突出症患者对临床效果。     

甘草查尔酮A对人乳腺癌MDA-MB-231细胞凋亡的影响

目的 观察甘草查尔酮A对人乳腺癌MDA-MB-231细胞凋亡的影响,并探讨其可能作用机制。方法 细胞增殖与活性检测（CCK-8）法检测不同浓度甘草查尔酮A对MDA-MB-231细胞存活率的影响;甘草查尔酮A（10,20,40 μmol·L^-1）作用MDA-MB-231细胞24 h,分别用细胞凋亡试剂盒（Annexin V-FITC/PI）检测细胞凋亡情况;荧光探针法（DCFA-DA）检测细胞内活性氧（ROS）水平,荧光探针（JC-1）法检测细胞线粒体膜电位（MMP）;蛋白免疫印迹法（Western blot）检测细胞凋亡相关蛋白B细胞淋巴瘤-2（Bcl-2）,B细胞淋巴瘤-2相关X蛋白（Bax）的表达及内质网应激相关蛋白（CHOP）,转录激活因子4（ATF4）,蛋白激酶R样内质网激酶（PERK）,磷酸化蛋白激酶R样内质网激酶（p-PERK）,真核翻译起始因子2α（eIF2α）,磷酸化真核翻译起始因子2α（p-eIF2α）表达。结果 与空白组比较,随着甘草查尔酮A浓度增大,从甘草查尔酮A 5 μmol·L^-1开始,细胞存活率明显降低（P<0.05）,其半数抑制浓度（IC₅₀）为19.05 μmol·L^-1;甘草查尔酮A（10,20,40 μmol·L^-1）组细胞凋亡明显升高（P<0.05）,甘草查尔酮A 40 μmol·L^-1时细胞凋亡率达30.2%（P<0.05）;甘草查尔酮A（10,20,40 μmol·L^-1）使抗凋亡蛋白Bcl-2的表达明显降低（P<0.05）,促凋亡蛋白Bax表达明显升高（P<0.05）,且呈浓度依赖性;甘草查尔酮A（10,20,40 μmol·L^-1）明显升高细胞内ROS水平（P<0.05）,降低线粒体MMP水平（P<0.05）,导致线粒体功能障碍,呈浓度依赖性;甘草查尔酮A（10,20,40 μmol·L^-1）诱导内质网应激,使内质网应激相关蛋白CHOP,ATF4表达明显增多,磷酸化（p）-PERK,p-eIF2α表达明显升高（P<0.05）,呈浓度依赖性。结论 甘草查尔酮A可能通过增加细胞内ROS水平,降低MMP引起线粒体功能障碍和内质网应激诱导MDA-MB-231细胞凋亡。     

Accuracy of direct examination and culture as compared to the anatomopathological examination for the diagnosis of chromoblastomycosis: a systematic review

BackgroundChromoblastomycosis is a skin infection caused by dematiaceous fungi that take the form of muriform cells in the tissue. It mainly manifests as verrucous plaques on the lower limbs of rural workers in tropical countries.ObjectivesThe primary objective of this review is to evaluate the accuracy of diagnostic methods for the identification of chromoblastomycosis, considering the histopathological examination as the reference test.MethodsMEDLINE, LILACS and Scielo databases were consulted using the terms “chromoblastomycosis” AND “diagnosis”. The eligibility criteria were: studies that evaluated the accuracy of tests for the diagnosis of chromoblastomycosis. Eleven studies were selected. Statistical analysis included the calculation of sensitivity and specificity of the diagnostic methods.ResultsConsidering the histopathological examination as the reference test, the culture showed a sensitivity (S) of 37.5% - 90.9% and a specificity (Sp) of 100%; while direct mycological examination showed S = 50% - 91.6% and Sp of 100% . Considering the culture as the reference test, the serology (precipitation techniques) showed S of 36% - 99%; and Sp of 80% - 100%; while the intradermal test showed S of 83.3% - 100% and Sp of 99.4% - 100%.Study limitationsThe small number of studies and very discrepant sensitivity results among them do not allow the calculation of summary measures through a meta-analysis.ConclusionsDirect mycological examination, culture, intradermal test and serology show sensitivity and specificity values ??for the diagnosis of chromoblastomycosis with no significant difference between the studies.     

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.