患者女,新生儿,3.4 kg.在当地医院顺产娩出,当即发现患儿肛门闭锁.孕母22岁,系第1胎第1产,产检36W+发现胎儿先天性心脏病.患儿未进食,大小便未排,体格检查:心律齐,心尖瓣膜区可闻及杂音;腹膨隆,未见胃肠型及蠕动波,肝脾肋下未及,听诊肠鸣音弱,移动性浊音阴性.肛检:肛门窝处未见正常肛门结构,搔刮可触及波动感,直肠前庭处可见直径约1 mm瘘口,可见少许胎便排出.主动脉CTA表现为主动脉弓部细,与动脉导管相通,动脉导管及肺动脉主干明显扩张,动脉导管延续降主动脉;心房间隔不连续:升丰动脉、肺动脉与心脏连接正常(图1).诊断为主动脉弓离断(B型);房间隔缺损.

松果体区转移性肿瘤十分罕见,因早期瘤体较小时临床表现不明显,常被漏诊或误诊,以致肿瘤逐渐生长造成颅内压增高,出现头痛、呕吐、视力障碍及意识障碍等一系列症状.笔者回顾性分析1例松果体区转移性透明细胞性肾细胞癌患者的临床和MRI表现,旨在提高对松果体区转移性肿瘤的认识,以提升诊断与鉴别水平.

急性嗜酸粒细胞性肺炎(acute eosinophilic pneumonia, AEP )是一种少见的嗜酸性粒细胞浸润肺组织为特征的疾病[1],通常症状较重、进展迅速[2],由于临床医生对该病认识不足且患者表现缺乏特异性,易误诊为一般感染性疾病而延误治疗[3],导致症状进一步加重,因此早期正确诊断、规范治疗对预后非常重要[4].笔者回顾性分析一例先后误诊为间质性肺炎、肺结核的急性嗜酸粒细胞性肺炎患者的临床、影像及病理学资料,旨在提高对该病的认识. 病例资料 患者,男,25 岁,以咳嗽、盗汗3 d 入院,3 d前无明显诱因出现咳嗽、盗汗,咳嗽为干咳,偶有心悸、气短,夜间为甚,在当地医院行胸部 CT 双肺多发斑片状、片絮状稍高密度影,纵隔多发淋巴结,诊断为间质性肺炎,给予左氧氟沙星治疗后效果不佳,为进一步诊治来我院.入院 CT (图 1 )示双肺散在分布磨玻璃样稍高密度影,多位于胸膜下及双肺外周部,未按支气管血管走形分布,右肺上叶尖段斑片状实变影,纵隔多发肿大淋巴结影.

Von Hippel-Lindau( VHL)综合征,也称希佩尔-林道综合征,是一种罕见的常染色体显性遗传的家族肿瘤,发病隐匿,临床表现复杂,诊断困难,预后不佳.笔者回顾性分析1例VHL综合征患者临床病史、影像学及病理学表现,并复习文献以提高对该病的认识,提高诊断与鉴别诊断水平,为临床早期治疗提供指导.

原发性泪腺导管腺癌是一种极罕见的上皮源性恶性肿瘤,侵袭性强,因肿瘤早期临床症状较轻,就诊时多已属于晚期,且影像学缺乏特异性征象,容易误诊.笔者回顾性分析一例原发性泪腺导管腺癌的临床、CT 及 MRI 表现,旨在提高对该肿瘤的认识. 病例资料 患者,男,70 岁,1 个月前无明显诱因出现左侧眼部肿胀、不适,左眼视力减退,视物偶有水平复视.查体:左眼轻度前凸,双眼视力减退,左眼明显.CT 平扫示左侧眼眶外上象限泪腺区不规则形软组织肿块,边界欠清,范围约 40 mm×38 mm,累及左侧额叶,病变呈稍高密度,其内可见多个斑点、小结节状致密影,眼眶外侧壁及邻近颅骨骨质明显破坏、中断,眼球向内下方移位、突出(图1).MRI T1WI 示不均匀等信号肿块并累及左侧眼眶,T2WI示等、低信号,增强检查病变明显不均匀强化,左外直肌受侵犯(图2).

尤文氏肉瘤( Ewing's sarcoma,ES)是一种侵袭性很强的小圆细胞恶性肿瘤,好发于青少年四肢长管骨,具有发生率低,早期转移速度快,进展快,易复发,预后不良等特点.笔者回顾性分析1例原发于肋骨骨膜的尤文氏肉瘤临床、增强CT表现,旨在提高对肋骨骨膜型尤文氏肉瘤的认识,以提高诊断与鉴别诊断水平,为临床治疗提供指导.

目的 为修复石骨症致病基因(CLCN7)进行前期探索,采用CRISPR/Cas9技术构建CLCN7基因编辑表达载体.方法 根据sgRNA设计原则,在CLCN7外显子区设计一对sgRNA,合成四条单链DNA寡核苷酸,退火后连接于CRISPR/Cas9质粒的BspQ I酶切位点处,然后转染感受态大肠杆菌DH5α,并通过氨苄青霉素抗性筛选阳性克隆,扩大培养.结果最后经过PCR和Sanger测序鉴定获得了两个基因编辑表达载体CLCN7-sg1RNA-CRISPR-Cas9和CLCN7-sg2RNA-CRISPR-Cas9.结论 基因编辑载体的成功构建为CLCN7突变修复提供了工作基础.

环状RNA是一种环形的内源性RNA分子,能在真核细胞中大范围的表达,由特殊选择性剪切产生。已有研究表明,某些circRNA可作为竞争性内源RNA发挥调控转录和转录后过程、编码蛋白的生物学功能,也可作为海绵吸附miRNA。在疾病的诊断和治疗方面,环状RNA具有很大的潜在价值,其与神经系统疾病、成骨不全及肿瘤等多种疾病密切相关。本文就circRNA的形成、功能及其在部分遗传性疾病发生中的作用等做一综述。

采用静态法从10种大孔树脂中筛选纯化银杏叶黄酮的最佳树脂,并通过动态吸附考察最佳大孔树脂的吸附性能和最优洗脱参数,同时研究银杏叶黄酮提取物对α-葡萄糖苷酶的抑制活性.确定LX-68大孔树脂纯化银杏叶黄酮的最佳工艺条件为:提取液pH值为4.0,上柱流速为2 BV·h-1,先以4 BV 10％乙醇洗脱杂质,再用70％乙醇洗脱,洗脱流速为3 BV·h-1.在此条件下,银杏叶提取物总黄酮含量达27.3％.纯化的银杏叶黄酮提取物具有餐后降血糖的作用,作用优于阿卡波糖,表明银杏叶黄酮提取物是一种优质的降血糖产品.

目的:研究纤维素酶/果胶酶/半纤维素酶复合酶酶解提取银杏叶中黄酮类化合物的最佳工艺条件.方法:以黄酮得率为考察指标,通过单因素试验及正交试验确定最佳提取工艺.结果:复合酶法提取银杏叶总黄酮的最佳工艺条件为酶用量0.4％,酶解温度40℃,酶解时间120 min,pH 5.5,纤维素酶/果胶酶/半纤维素酶的配比2:3:1时对银杏叶的细胞组织具有较强的破壁力;与不加酶相比,总黄酮提取率提高了36.6％.结论:采用复合酶法,可以降低酶的使用量,提取条件温和,提高了总黄酮提取率.

介绍深圳某区属二级医院通过卓越绩效管理引领医院转型升级发展、文化引领全面质量管理、对服务过程关键环节的控制和改进的结果,总结践行卓越绩效管理的经验和体会,并针对医院实施卓越绩效模式时的关键环节,提出相应的应对策略.

目的:分析武汉大学预防医学生专业实习教学工作过程中积累的经验及存在的问题,为进一步完善专业实习实践提供参考和依据.方法:采用半结构式定性访谈的方法对实习学生进行访谈,了解学生对不同场所实习设计、执行过程和成绩考评等方面的体会和评价.结果:不同实习场所有各自特点,综合性实习基地对专业能力培养更有优势,各实习场所在实习目标设定、过程监督等环节有待改进.结论:专业实习教学工作在总结已有经验和成果的基础上,应在目标设定、成绩考核评定等方面继续进行改革和探索,努力推进预防医学专业实习的不断完善和发展.

目的:测算和分析深圳市坪山新区社区健康服务中心(以下简称“社康中心”)运行效率,为提高社康中心运行效率提供参考.方法:采用Bootstrap-DEA方法测算坪山新区21家社康中心2012-2014年社区健康服务效率,使用Malmquist-DEA指数分析社康中心全要素生产率及其分解指数变化趋势.结果:2012-2014年21家社康中心的效率值经过Bootstrap纠偏后均低于纠偏前;Bootstrap-DEA效率值低于均数的分别有6家、8家、8家,效率值属于“差”(＜0.600)的社康中心分别有0家、2家、3家.2012-2014年样本社康中心全要素生产率整体呈进步趋势(年增幅9.4％),技术效率整体呈下降趋势(年降幅4.3％),技术进步与全要素生产率变化趋势一致(年增幅14.3％).结论:Bootstrap-DEA方法较传统DEA方法提高了效率测算的精度.整体上坪山新区社康中心全要素生产率的提高主要源自技术进步,但技术效率下降.社康中心一方面需要增加高水平的医务人员,激发规模效率;一方面需要开展绩效评价、绩效标杆、跨组织学习,通过提升内部管理,提升纯技术效率.

Objective:Dentification and comparative quantification between protein samples were performed using isobaric tags for relative and absolute qutification (iTRAQ),which used to analyze gene function cluster (GO),protein classification and path analysis (Pathway).Methods:The serum sample of thrombophilia patients and normal serum samples were treated by enzyme digestion and labeling.To investigate the differentially expressed proteins in serum of patients in Thrombophilia and normal serum using isobaric tagging for relative and absolute protein quantification and gene ontology analysis.Results:Totally,50 differentially expressed proteins were identified in the test,including 29 up-regulated proteins and 21 down-regulated proteins,and sums up the development of thrombophilia risk factors,so as to provide the basis for its further research.Conclusion:The iTRAQ technology and bioinformatics methods provide the possibility to screen out the significant markers of the Thrombophilia.

Objective To explore the relationship between social supports and post-stroke fatigue among community stroke patients.Methods A total of 164 community stroke patients in Pingshan New Area of Shenzhen City were investigated by Fatigue Severity Scale (FSS) and Social Support Rating Sale (SSRS).Results Of the 164 cases,there were 72 cases diagnosed post-stroke fatigue (accounting for 43.9％);Patients with post-stroke fatigue had lower scores of SSRS than non-fatigue patients with statistically significant difference;The scores of FSS were significantly negative related with each dimension of SSSR;Patients who signed with the family physician had lower rate of post-stroke fatigue (P＜0.01),and the total levels of subjective support,objective support and social support were higher in signed patients than those in non-signed patients (P ＜0.01).Conclusion Post-stroke fatigue may be closely related to social supports;Family physician services can improve the levels of social supports in order to reduce the incidence of post-stroke fatigue.

Objective To explore the operational efficiency of community health service centers and provide references for the development of community health service centers.Methods Data envelopment analysis ( DEA) was conducted to evaluate the fundamental operational efficiency ( including general efficiency , pure technical efficiency and scale efficiency ) of 21 community health service centers affiliated to a public hospital in Pingshan New District of Shenzhen in 2013.The evaluation indexes include input indexes , which are total expenditure and the number of staff , and output indexes , which are general income, number of outpatients , number of woman and children who have received healthcare , number of patients who have received chronic disease management and number of contract -signing family doctors.Results The average general efficiency was 0.839, with a generally effective proportion of 38.1% (8/21); the average technical efficiency was 0.929, with a technical effective proportion of 66.7% (14/21); the average scale efficiency was 0.904, with a scale effective proportion of 38.1%(8/21); there were 7 community health service centers that didn′t reach effective level in general efficiency , pure technical efficiency and scale efficiency.Conclusion Community health service centers have low operational efficiency , and problems exist in terms of the waste of medical resources and imbalance among various items of medical services .In the construction of community health service center , resources should be rationally allocated , and the best use of resources should be made.

Objective To analyze the effect of implementation of the family physician services on Knowledge-Atti-tude-Practice (KAP)of patients with hypertension and related knowledge of their family members.Methods Three com-munity health centers were extracted from the jurisdiction of a second grade hospital in Shenzhen City,collecting health re-cords of patients with hypertension,defining the patients signed the family physician service over six months as the interven-tion group,unsigned as a control group.Questionnaire survey on Knowledge-Attitude-Practice was applied for hypertension patients in both groups,and knowledge of hypertension among the members of their families.Results Scores of knowledge, attitude,behavior and medication compliance of hypertension patients in signed group knows were (21.60 ±1.49),(7.90 ±1.42),(5.89 ±2.03),and (3.56 ±0.55)respectively.Medication treatment rate was 95.5%,and blood pressure control rate was 56.4%,both of them higher than control group (P <0.05);families of hypertension patients in signed group scored (7.27 ±1.30),(6.77 ±0.96),and (4.59 ±1.07)respectively on hypertension related knowledge at the three dimensions degrees,higher than that of the control group (P <0.05).Conclusion The family physician services not only improve KAP and medication compliance in patients with hypertension,can also improve the cognitive level of hyperten-sion in families of hypertension patients.

目的 胸片普查延迟诊断的周围型小肺癌早期x线表现及动态变化特点.方法 回顾性分析15例胸部X线摄片延迟诊断的周围型小肺癌的影像学特征.将本组病例按检出前和检出时病灶形态、大小、密度和边缘进行了对比.结果 回顾性分析延迟诊断的15例患者初次胸片均有异常改变,包括:1)微结节伴有纹理聚集3例.2)灶状浸润7例.3)不规则结节状5例.检出时全部病灶均发展成(20.7±9.1)mm结节.从初次显现至病灶检出相距时间为8～47个月,平均16.3个月,倍增时间为35～233 d.结论 周围型小肺癌胸片较容易漏诊,认识其早期表现、动态比较观察以往胸片和及早行建议胸部CT扫描有助于降低小肺癌的延迟诊断率.

Objective To explore the effect of management of chronic disease: Health monitoring platform with Health coach, then giving advice for the chronic disease management. Methods 580 patients in the chronic disease management system of the 21 community health service centers were selected and divided into three groups: control group(n =282),health coach group(n =148),health monitoring platform with health coach(n =149).After 6 months,comparing the hypertension among the three groups. Results After 6 months, the results of last group are better than of the first two groups in blood pressure reduction,blood pressure value, the compliance rate of blood pressure after treatment(SBP: χ2=25.935; DBP: χ2=40.554),decreased amplitude(SBP: χ2=63.294, DBP: χ2=27.152),compliance rates(SBP: χ2=9.874; DBP:χ2=11.173) and blood pressure classification( χ2=13.584) with significance statistical differences(P0.05). Conclusion Remote blood pressure monitoring and chronic disease management mode of health coach can significantly improve the patient's blood pressure and is worth popularizing widely.

目的 了解脑卒中患者对家庭医生服务的需求及对家庭医生服务的知晓及满意度,为改善家庭医生制服务提供参考.方法 采用自行设计的问卷,对深圳某医院2013年8月-2014年8月脑卒中患者或家属开展调查.结果 调查共发放491份问卷,有效问卷483份.按是否签订家庭医生服务分为签约组和未签约组,2组在性别、婚姻状况、文化程度、职业、疾病情况及居住方式等维度差异无统计学意义(P＞0.05),在年龄(t=2.54)、家庭收入(x2 =8.39)、医疗保险类型(x2 =84.62)维度差异有统计学意义(P＜0.05),签约组年龄(58.94 ±7.66)岁小于未签约组(63.86±7.16)岁,家庭收入和医保覆盖率优于未签约组;对未签约组进行分析显示未签约原因前三位为“不了解”41例,“社康中心医疗设备不足”17例,“医生技术水平有限”15例.对签约组进行满意度调查显示家庭医生服务态度满意率84.08％、技术满意78.98％,主动服务满意率63.06％,医患沟通满意率47.13％;签约组84.28％的患者希望家庭医生能与专科医生一起,提供综合性医疗服务.结论 脑卒中患者家庭医生签约率低,与其对家庭医生制服务模式的不了解和现行家庭医生制服务的不健全有关,应加大家庭医生服务的推广,改进现有的家庭医生服务模式,从而真正做到为患者及社区居民服务.