遗传性多发性外生骨疣伴颈髓压迫1例

<正>患者,男,29岁,因左侧肢体无力7年,加重1个月于2016年8月26日来我院脊柱外科就诊。7年前无明显诱因出现左侧肢体无力,以下肢为重,起步及迈步时自觉下肢沉重,手部精细活动受限,同时伴有右侧肢体麻木及胸腹部束带感,无大小便障碍,就诊于当地医院后行X线检查被诊断为股骨和肱骨骨软骨瘤,曾于2007年接受左股骨和左肘截     

Superior trans‐septal approach for minimally invasive mitral valve surgery via right small thoracotomy

Minimally invasive mitral valve surgery (MIMVS), despite its challenges, is not a rare procedure. However, MIMVS via a right small thoracotomy must be performed using long‐shafted surgical instruments and thoracotomy instruments specialized for minimally invasive cardiac surgeries. We have performed 12 cases of MIMVS via right small thoracotomy using the superior trans‐septal approach and secured a surgical visual field that easily allows a finger to reach the mitral valve annulus without using special instruments for minimally invasive cardiac surgery. We named this technique the “drawer‐case technique.” In conclusion, MIMVS via right thoracotomy using the superior trans‐septal approach can be performed easily and safely, similar to mitral valve surgery performed via median sternotomy.     

Zero‐order asymptotic solution of a class of singularly perturbed linear‐quadratic problems with weak controls in a critical case

We consider a linear‐quadratic optimal control problem where the second power of a small parameter stands in front of the derivative and a control in a state equation and in front of a quadratic form with respect to control in a performance index; moreover, in the state equation, the nonhomogeneity has the first order of the power of a small parameter, and a matrix in front of the state variable is singular if the small parameter is equal to zero. Using immediate substituting a postulated asymptotic expansion of a solution, containing a regular series and four boundary layer functions series, into the problem condition, we obtain problems for finding asymptotic terms of the zero order for the optimal control and the first order for the optimal trajectory. An illustrative example is given.     

应用个案管理模式提高乳腺癌患者首次复查率

目的探讨应用个案管理模式对提高乳腺癌患者治疗后首次复查率的影响。方法回顾选择2015年1月至2015年3月,在我科新确诊为乳腺癌,接受常规医疗护理治疗的64例患者设为常规医疗护理组;选择2016年1月至2016年3月,在我科接受常规医疗护理治疗并同时应用个案管理模式的81例乳腺癌患者设为个案管理模式组,两组均在完成手术(或结束辅助治疗后)被告知三个月后返院首次复查,比较个案管理模式应用前后患者的首次复查率。结果常规医疗护理组的首次复查率为65.63%,个案管理模式组的首次复查率为87.65%,提高了22.02%,两组患者的复查率差异有统计学意义(P0.05),个案管理模式组优于常规医疗护理组。结论个案管理模式的应用能提高乳腺癌患者治疗后的首次复查率。     

EB病毒相关性噬血细胞综合征一例报道并文献复习

噬血细胞综合征是儿童少见的组织细胞疾病,早期表现缺乏特异性,极易造成误诊,延误治疗机会。本文通过回顾性分析1例诊断为EB病毒相关性噬血细胞综合征（EBV-HLH）患儿的临床资料、治疗情况,结合目前EBV-HLH的研究进展进行文献复习,以便临床工作者早期识别嗜血细胞综合征,为患儿争取生存机会。 淋巴组织细胞增多症,嗜血细胞性;疱疹病毒4型,人;EB病毒;儿童;病例报告     

南宁市耐多药肺结核患者的发现和接受治疗情况

目的 分析南宁市2012—2016 年耐多药肺结核患者发现和纳入治疗情况,为政府制定针对性的耐多药肺结核防治策略提供参考依据。方法 收集南宁市自2012年5月—2016年12月耐多药肺结核可疑者的培养、药敏及接受治疗和转归等资料,分析不同登记分类、不同年份耐多药肺结核可疑者的涂阳培阳率、耐多药肺结核检出率以及耐多药肺结核患者的接受治疗比例。结果 自2012年5月—2016年12月,南宁市共登记耐多药肺结核可疑者7 987例,开展痰结核分枝杆菌培养2 844例,痰培养阳性1 946例,痰培养阳性率为68.42%;开展传统药敏试验1 900例,经菌种鉴定结核分枝杆菌复合群1 820例,检出耐多药肺结核213例,耐多药肺结核检出率为11.70%;确诊的213例耐多药肺结核患者中,纳入治疗管理106例,纳入治疗率为49.77%,接受治疗的患者中,治愈40例,完成疗程18 例,治疗成功率为54.72%。结论 2012—2016年南宁市耐多药肺结核防治取得一定效果,但耐多药肺结核检出率较低也可能与涂阳培阳率低导致检出例数减少有关。针对纳入治疗率和治疗成功率相对较低的问题,建议要提高耐多药肺结核患者的治疗管理水平,不断探索改进耐多药肺结核防控策略从而达到降低耐多药肺结核疫情的目的。     

葡萄糖激酶W257R突变致青少年发病的成人型糖尿病一家系分析

青少年发病的成人型糖尿病（MODY）是一类以常染色体显性模式遗传的单基因疾病,临床表现以无症状、轻度空腹血糖升高为特征,很少出现糖尿病并发症。本文报道一例中国人群中葡萄糖激酶（GCK）基因新发W257R突变所致的MODY。在先证者及父亲、弟弟中均发现GCK基因（Chr744187343）第7号外显子的杂合突变c.769T>C（p.W257R）。该家系中W257R突变在中国人群中为首发。     

Constructing Large Scale Cohort for Clinical Study on Heart Failure with Electronic Health Record in Regional Healthcare Platform: Challenges and Strategies in Data Reuse

Regional healthcare platforms collect clinical data from hospitals in specific areas for the purpose of healthcare management. It is a common requirement to reuse the data for clinical research. However, we have to face challenges like the inconsistence of terminology in electronic health records (EHR) and the complexities in data quality and data formats in regional healthcare platform. In this paper, we propose methodology and process on constructing large scale cohorts which forms the basis of causality and comparative effectiveness relationship in epidemiology. We firstly constructed a Chinese terminology knowledge graph to deal with the diversity of vocabularies on regional platform. Secondly, we built special disease case repositories (i.e., heart failure repository) that utilize the graph to search the related patients and to normalize the data. Based on the requirements of the clinical research which aimed to explore the effectiveness of taking statin on 180-days readmission in patients with heart failure, we built a large-scale retrospective cohort with 29647 cases of heart failure patients from the heart failure repository. After the propensity score matching, the study group (n=6346) and the control group (n=6346) with parallel clinical characteristics were acquired. Logistic regression analysis showed that taking statins had a negative correlation with 180-days readmission in heart failure patients. This paper presents the workflow and application example of big data mining based on regional EHR data.