利用CNV-seq技术产前诊断Pallister-Killian综合征胎儿一例

应用拷贝数变异测序(copy number variation sequencing,CNV-seq)技术鉴别来源不明的胎儿标记染色体,明确其遗传物质的来源,并探讨此技术在产前诊断中的应用价值。讨论Pallister-Killian综合征(Pallister-Killian syndrome,PKS)的临床特征及遗传学特点,提高对此类罕见染色体疾病的认识。该病例因在妊娠中期超声发现胎儿异常而行羊水穿刺进行CNV-Seq检测,同时分析胎儿和父母的核型。羊水CNV-Seq结果示该样本12号染色体p13.33-p11.1处检测到拷贝数为3.5、片段大小为34.70 Mb的嵌合重复区域;羊水染色体核型结果为47,XY,+i(12)(p10)[58]/46,XX[42],综合上述结果考虑为PKS。通过结合超声结果,综合应用染色体G显带核型分析和CNV-seq技术能准确确认染色体异常片段来源,在产前有效诊断PKS患者。     

医院档案管理工作创新方法初探

档案管理是医院管理中一项重要的内容。医院传统档案管理已经不能满足现代化社会发展的要求,基于此需要加强对医院档案管理的创新,只有在加快医院档案管理创新的基础上才能提高档案管理的效率和水平,并推动社会的进一步发展,可见创新医院档案管理方法是时代发展的必然选择。该文主要针对现阶段创新医院档案管理工作方法的相关问题进行研究,目的是为医院档案管理纳入新的工作方法,提高医院管理水平。     

Helicobacter pylori induces epithelial-mesenchymal transition in gastric carcinogenesis via the AKT/GSK3β signaling pathway

Helicobacter pylori (H. pylori) is a main risk factor for gastric cancer (GC). Epithelial-mesenchymal transition (EMT) is involved in the development and progression of H. pylori-associated GC. However, the exact molecular mechanism of this process remains unclear. The AKT/GSK3β signaling pathway has been demonstrated to promote EMT in several types of cancer. The present study investigated whether H. pylori infection induced EMT, and promoted the development and metastasis of cancer in the normal gastric mucosa, and whether this process was dependent on AKT activation. The expression levels of the EMT-associated proteins, including E-cadherin and N-cadherin, were determined in 165 gastric mucosal samples of different disease stages by immunohistochemical analysis. The expression levels of E-cadherin, N-cadherin, AKT, phosphorylated (p-)AKT (Ser473), GSK3β and p-GSK3β (Ser9) were further determined in H. pylori-infected Mongolian gerbil gastric tissues and cells co-cultured with H. pylori by immunohistochemical analysis and western blotting. The results indicated that the expression levels of the epithelial marker E-cadherin were decreased, whereas the expression levels of the mesenchymal marker N-cadherin were increased during gastric carcinogenesis. Their expression levels were associated with H. pylori infection. Furthermore, H. pylori infection resulted in downregulation of E-cadherin expression and upregulation of N-cadherin expression in Mongolian gerbils and GES-1 cells. In addition, an investigation of the associated mechanism of action revealed that p-AKT (Ser473) and p-GSK3β (Ser9) were activated in GES-1 cells following co-culture with H. pylori. Furthermore, following pretreatment of the cells with the AKT inhibitor VIII, the expression levels of E-cadherin, N-cadherin, p-AKT and p-GSK3β did not show significant differences between GES-1 cells that were co-cultured with or without H. pylori. The levels of p-AKT and p-GSK3β were increased in H. pylori-infected Mongolian gerbils. In conclusion, the present study demonstrated that H. pylori infection activated AKT and resulted in the phosphorylation and inactivation of GSK3β, which in turn promoted early stage EMT. These effects were AKT-dependent. This mechanism may serve as a prerequisite for GC development.     

甲状腺乳头状癌伴发桥本甲状腺炎的临床研究

背景与目的：甲状腺乳头状癌（papillary thyroid carcinoma，PTC）和桥本甲状腺炎（Hashimoto’s thyroiditis，HT）的发病率均呈上升趋势，两者之间的关系已成为目前研究的热点。探讨PTC和HT之间的关系。方法：回顾性分析2014—2015年期间在中国科学院大学附属肿瘤医院头颈肿瘤外科行甲状腺癌手术治疗的首诊患者306例，术后病理学检查均明确诊断为PTC，其中术后病理学确诊伴发HT者42例，比较伴发HT与未伴发HT患者的临床病理学特征。结果：PTC患者女性发病年龄高于男性（46.2岁 vs 41.9岁）。相较于与未伴发HT的PTC患者，伴发HT的患者中女性比例更高（93% vs77%），中央区淋巴结数目较多［（5.0±3.4）枚 vs （2.5±2.7）枚］，术前促甲状腺激素（thyroid-stimulating hormone，TSH）水平较高［（3.28±1.91）μU/mL vs （2.12±1.29）μU/mL］，术前抗甲状腺过氧化物酶抗体（thyroid peroxidaseantibody，TPOAb）阳性率较高（55% vs 14%），术前甲状腺球蛋白抗体（thyroglobulin antibodies，TgAb）阳性率较高（69% vs 13%）。发生中央区淋巴结转移的患者中，中央区淋巴结转移数目与中央区淋巴结总数显著相关（Pearson相关系数=0.582）。多因素logistic回归分析发现，男性、低龄、被膜侵犯是PTC患者中央区淋巴结转移的独立危险因素。结论：伴发HT对PTC患者的预后无显著影响。伴发HT的PTC患者TSH水平显著偏高，提示HT可能是PTC发病风险因素之一。中央区淋巴结转移数目与中央区淋巴结总数相关，推测PTC淋巴结转移可能与淋巴结炎症反应相关。     

改良单图像法手工测量髌骨不稳患者胫骨结节-股骨滑车沟间距的可行性分析

目的 探讨改良单图像法手工测量髌骨不稳患者胫骨结节-股骨滑车沟（tibial tuberosity-trochlear groove，TT-TG）间距的可行性。 方法 选取髌骨不稳患者30例。高年资手术医师A、B，使用改良单图像法手工测量髌骨不稳患者TT-TG间距，对比高资年影像学医师C，使用双图法测量髌骨不稳患者TT-TG间距。应用Cronbach′s alpha系数评价结果的可信度。应用组内相关系数（intraclass correlation coefficient，ICC）评价结果的可重复性。使用Bland-Altman分析图评价结果的一致性。 结果 高年资手术医师A、B使用改良单图像法手工测量髌骨不稳患者TT-TG间距分别和高年资影像学医师C使用双图法测量髌骨不稳患者TT-TG间距比较，Cronbach′s alpha系数分别为0.913和0.959，组内相关系数分别为0.913和0.958。Bland-Altman分析图显示，TT-TG间距差值（mm）的均值为-0.276（95%CI：-3.526~2.974）和0.143（95%CI：-3.110~3.397）。A、B医师之间使用改良单图像法手工测量髌骨不稳患者TT-TG间距比较，Cronbach′s alpha系数为0.891，组内相关系数为0.891。Bland-Altman分析图显示TT-TG间距差值（mm）的均值为-0.276（95%CI：-3.526~2.974）。 结论 改良单图像法手工测量髌骨不稳患者TT-TG间距操作简单，可以准确测量出髌骨不稳患者的TT-TG间距，该方法和双图法可以相互替换使用。     

Cefoperazone-sulbactam and risk of coagulation disorders or bleeding: a retrospective cohort study

ABSTRACT

Objectives: Limited evidence has suggested that cefoperazone-sulbactam causes coagulation disorders and bleeding.

Methods: The authors conducted a retrospective study to compare patients receiving cefoperazone-sulbactam versus those treated with cefoperazone-tazobactam or ceftazidime. Propensity-score matching was used to explore whether treatment with cefoperazone-sulbactam increased the risk of prothrombin time (PT) prolongation, coagulation disorders, and bleeding, or decreased platelets (PLT).

Results: The cohort included 23,242 patients. Among patients receiving cefoperazone-sulbactam, the risk of PT prolongation, coagulation disorders, decreased PLT, and bleeding was 5.3%, 9.2%, 15.7%, and 4.2%, respectively. Propensity-score matching analyses suggested that cefoperazone-sulbactam increased the risk of PT prolongation (aOR 2.26, 95% CI 1.61–3.18), coagulation disorders (aOR 1.81, 95% CI 1.43–2.30), and decreased PLT (aOR 1.46, 95% CI 1.25–1.72), but not increase bleeding (aOR 1.05, 95% CI 0.79–1.40) compared with ceftazidime. Patients receiving cefoperazone-sulbactam had higher risk of PT prolongation (aOR 1.53, 95% CI 1.11–2.10), coagulation disorders (aOR 1.53, 95% CI 1.21–1.95), but not decreased PLT (aOR 0.93, 95% CI 0.81–1.07) or bleeding (aOR 1.11, 95% CI 0.87–1.42), compared with those receiving cefoperazone-tazobactam.

Conclusion: Cefoperazone-sulbactam may be associated with a higher risk of PT prolongation and coagulation disorders compared with cefoperazone-tazobactam and ceftazidime.     

术中电生理动态监护下显微手术切除椎管神经鞘瘤（附65例报告）

目的 探讨术中电生理监护对椎管神经鞘瘤显微手术中的作用及意义，提高对椎管内神经鞘瘤的治疗水平。方法 回顾性分析65例术中电生理动态监护下，显微手术切除椎管内神经鞘瘤。结果 治愈60例（占92．3％），好转5例（占7．7％），无死亡；肿瘤全切62例，次全切除3例，全切率95．4％。结论 常规动态电生理监测下显微手术切除椎管神经鞘瘤，能保全脊髓神经的功能，减少副损伤，提高手术安全性；显微手术有助于提高肿瘤全切率，可有效减少术后复发。对影响脊柱稳定性的行脊柱融合内固定。     

进展期胃癌的淋巴结转移特点及其临床意义

目的探讨进展期胃癌的淋巴结转移特点及临床意义。方法对2002年4月至2003年7月期间进行胃癌根治淋巴结清扫手术的91例患者的手术切除标本进行解剖，收集切除的淋巴结，逐枚进行病理组织学和免疫组织化学检查，判断淋巴结是否转移并计算淋巴结转移率。分析淋巴结转移率与肿瘤大小、TNM分期、Borrmann分型、肿瘤部位和淋巴结清扫范围等方面的关系。结果91例胃癌患者中淋巴结转移阳性63例（69．2％）。共收获3149枚淋巴结，平均每例34．6枚。肿瘤直径小于3cm者淋巴结转移率较3cm以上者低（P〈0．05）。TNM分期中Ⅲa和Ⅳ期患者淋巴结转移率均为100％，其转移度在30．3％～58．4％之间，较Ⅰ、Ⅱ期者高（P〈0．001）；Borrmann分型中Ⅲ型病例的淋巴结转移率（79．6％）较其他型患者高，而Ⅳ型患者淋巴结转移度（35．3％）最高（P〈0．05）。施行D3淋巴结清扫手术患者的淋巴结转移率和转移度（88．2％、38．0％）均高于D1、D2术患者（P〈0．05）。17例（18．7％）患者常规病理检查发现有183枚淋巴结微转移，肿瘤各部位与淋巴结微转移的关系差异无统计学意义（P〉0．05）。近端胃癌淋巴结转移主要在第1、2、3、5、7、8、9、12、13和16组，以8组转移度为最高（68．1％）；中部胃癌淋巴结转移主要在第1、3、7、12、13和16组，其中最高转移度为第3组（47．6％）；远侧胃癌淋巴结转移主要见于1、2．3、5、6、12、13和16组，其中第16组转移度为最高（83．3％）。结论淋巴结转移率和转移度与胃癌的恶性程度密切相关，因此D3淋巴结清扫手术对某些进展期胃癌患者值得考虑使用。