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.     

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。     

Simultaneous liver and renal transplantation in man

Advanced chronic renal failure has been thought of as a contraindication to liver transplantation. We present here seven cases of simultaneous kidney-liver transplant performed for combined end-organ failure. Six of the seven patients are alive with functioning grafts with follow-up of from 6 weeks to 32 months. In one case, the patient chronically rejected his liver graft (treated with successful retransplant) while maintaining good function in his kidney. The rate of acute rejection in the liver transplant was only 37.5% compared with 59.3% in the patients undergoing liver transplant only. There were no obvious rejections observed in the kidney transplants. These cases demonstrate the utility of simultaneous kidney-liver transplant in patients with combined kidney and liver failure. Advanced chronic renal failure should no longer be considered a contraindication to liver transplantation.     

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。     

Is facial pattern a predisposing factor for otitis media with effusion in children?

Abnormalities in craniofacial morphology are associated with Eustachian tube dysfunction and otitis media with effusion (OME).Aim: to evaluate the relationship between facial pattern and craniofacial growth direction, and OME in children with enlarged tonsils and adenoids (ETA).Methods: Clinical prospective survey in 79 children (41 male and 38 female), ranging from 4 to 10 years of age, with tonsil and adenoid enlargement (Brodsky's grades III and IV). Forty children presented with OME (study group) and 39 did not (control group). Cephalometric analysis was used to determine the facial pattern.Results: There was no correlation observed between facial pattern and OME (c 2 = 0.25 p = 0.88). Facial Axis was larger in the OME group (F(1.75) = 3.68 p = 0.05) and the Lower Anterior Facial height was smaller (F(1. 75) = 3.99 p = 0.05) in children with otitis media with effusion.Conclusions: There was no correlation between OME and facial pattern in children with ETA although a more horizontal facial growth direction, and a smaller lower anterior facial height was observed consistently among subjects in this group. This suggests that abnormal positioning of the eustachian tube influences the development of OME in children with ETA.     

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.