Genetic variations of HSD11B2 in hypertensive patients and in the general population, six rare missense/frameshift mutations.

Mutations in the gene encoding 11beta-hydroxysteroid dehydrogenase type 2, HSD11B2, cause a rare monogenic juvenile hypertensive syndrome called apparent mineralocorticoid excess (AME). In AME, defective HSD11B2 enzyme activity results in overstimulation of the mineralocorticoid receptor (MR) by cortisol, causing sodium retention, hypokalemia, and salt-dependent hypertension. Here, we have studied whether genetic variations in HDS11B2 are implicated in essential hypertension in Japanese hypertensives and the general population. By sequencing the entire coding region and the promoter region of HDS11B2 in 953 Japanese hypertensives, we identified five missense mutations in 11 patients (L14F, n = 5; R74H, n = 1; R147H, n = 3; T156I, n = 1; R335H, n = 1) and one novel frameshift mutation (4884Gdel, n = 1) in a heterozygous state, in addition to 19 genetic variations. All genetic variations identified were rare, with minor allele frequencies less than 0.005. Four of 12 patients with the missense/frameshift mutations showed renal failure. Four missense mutations, L14F, R74H, R147H, and R335H, were successfully genotyped in the general population, with a sample size of 3,655 individuals (2,175 normotensives and 1,480 hypertensives). Mutations L14F, R74H, R147H, and R335H were identified in hypertensives (n = 6, 8, 3, and 0, respectively) and normotensives (n = 8, 12, 5, and 0, respectively) with a similar frequency, suggesting that these missense mutations may not strongly affect the etiology of essential hypertension. Since the allele frequency of all of the genetic variations identified in this study was rare, an association study was not conducted. Taken together, our results indicate that missense mutations in HSD11B2 do not substantially contribute to essential hypertension in Japanese.     

应用64层CT一次扫描完成心脏冠脉成像及心功能分析的可行性初步研究

目的研究64层CT一次扫描同时完成心脏冠脉成像及心功能分析的可行性。方法96例患者均行MSCT心脏成像扫描和MR心脏检查,数据分别按照冠脉成像和心功能分析要求进行重建和后处理,评估。结果1271段冠脉血管中有约99%血管显示清晰,达到诊断要求;心功能分析数据左室舒张末期容积(LVEDV)、左室收缩末期容积(LVESV)、左室每搏输出量(LVSV)、左室射血分数(LVEF)、左室心肌容积(LVMV)与MR相关数据的相关系数分别为0.84、0.91、0.94、0.89、0.88。结论MSCT可以在一次扫描中完成冠脉成像和心功能数据采集,具有极高应用价值。     

管理人员职业紧张常模及转换表研制

目的中高层管理人员、一般管理人员职业紧张常模、应用表、分级标准研究。方法采用职业紧张量表(OSI-R),对中高层管理人员263例、一般管理人员569例,共计832例常模样本进行研究。结果首先,采用OSI-R量表分别研制了中高层管理人员、一般管理人员职业紧张常模;其次,在常模的基础上,分别研制了常模样本粗分转换为T分表。职业紧张程度分级职业任务和紧张反应问卷中,T分≥70分者,为高度职业紧张、紧张反应;T分在60分至69分范围内者,为中度职业紧张、紧张反应;T分在40分至59分范围内者,为适度职业紧张和紧张反应;处于正常范围。T分低于40分者,为相对缺乏职业紧张和紧张反应。在应对资源问卷中,T分低于30分者,表明高度缺乏应对资源;T分在30分至39分范围内者,表明中度缺乏应对资源;T分在40分至59分范围之间者,具有适度的应对资源,属于正常范围;T分≥60分者,表明有很强的应对资源。结论将职业紧张的模式结合中高层管理人员、一般管理人员职业紧张常模及应用表,分别针对不同个体主要紧张源、紧张反应、应对资源,采取有针对性的干预(组织、个体)措施,以降低中高层管理人员、一般管理人员职业紧张程度,保护和促进工作能力是职业卫生领域面临的重要任务之一。     

妇科门诊子宫颈病变常识问卷调查

目的了解我院门诊就诊者对子宫颈病变相关知识的认识。方法自制问卷调查表，采用无记名，当面问卷调查方式。结果从调查100例就诊者中，未做过健康体检、妇科盆腔检查和宫颈刮片检查分别为34例、24例和52例。对宫颈癌的认识不知道者53例。结论建议相关部门加强对妇女的健康教育，提高其健康意识，强化临床医生的防癌意识和对子宫病变的规范化诊治。     

胰腺假性囊肿的诊治体会

目的 总结胰腺假性囊肿的诊治体会。方法 回顾性分析46例胰腺假性囊肿患者的临床资料，7例保守治疗，行内引流术12例，外引流术9例，序贯式内外引流术5例，胰腺部分切除术13例。结果 保守治疗者均痊愈，无复发；行内引流术者中有1例发生肠瘘，其余11例恢复良好无复发；行外引流术1例出现胰瘘，2例复发；行胰腺部分切除术者有1例出现胰瘘，其余恢复良好。结论 根据病情和病程选择合适的术式是治疗胰腺假性囊肿的关键。     

肺肠合治法治疗哮喘发作期的机理

中医药治疗哮喘有独特优势,临床上依据肺肠相关理论,采用肺肠合治法常有较好的疗效。本文就肺肠合治法治疗哮喘发作期的机理予以探讨,并对临床应用进行了归纳总结。1肺肠合治法治疗哮喘发作期的机理1．1肺与大肠经脉相互连络《灵枢·经脉》篇曰：“肺手太阴之脉,下络大肠,……上膈属肺……”。“大肠手阳明之脉,……络肺,下膈属大肠     

Reconstruction of the nasal tip including the columella and soft triangle using a mastoid composite graft.

This paper describes the use of a composite graft from the mastoid area consisting of full-thickness skin peripherally and selectively localised fascia-fat tissue underneath the skin centrally for immediate reconstruction of moderate defects of the nasal tip including the columella and soft triangle. Mastoid composite grafting is a simple and safe procedure that avoids partial graft loss and provides adequate augmentation of soft tissue, easy reshaping of the new nostril rim, minimal post-operative shrinkage, and no donor-site morbidity. Then, it results in a satisfactory nasal appearance with adequate tip projection and symmetry. This procedure may represent a preferred method of nasal tip reconstruction.     

Lugol液染色对食管早期癌和癌前病变的诊断价值

目的 探讨Lugol液染色对食管早期癌和癌前病变的诊断价值。方法 对45例食管黏膜可疑病变经内镜以2％Lugol液喷洒染色，观察黏膜染色情况，并取活检送病理组织学检查。结果 45例食管病变染色后，39例呈浅染色或不染色，其中食管癌8例（食管早期癌5例，进展期癌3例），Barrett食管5例，轻至中度不典型增生1l例。本组Lugol液染色对食管早期癌和癌前病变的检出率达46．7％。结论 内镜下应用Lugol液染色结合活检有助于食管早期癌和癌前病变的诊断，且操作简便，具有重要的临床价值。     

根管预备程度对无髓牙根管壁应力影响的分析

目的 分析不同根管腔的直径对根管壁应力的影响。方法 在已建立的下颌第一磨牙模拟常规法根管预备修改的实验模型基础上，再修改根管腔直径，使根管直径扩大到牙根直径的1／3和1／2，并在修改模型上加载，计算在不同加载条件下牙齿各部及管壁的最大应力。结果 根管腔直径增大会引起根管壁应力的升高，该变化主要出现在根管口和根上1／3段，侧向加载时产生的应力差异大于垂直加载时产生的应力差异。结论 根管预备应以去除根管壁的感染物质，获得良好的根管成形为原则，过度的预备不仅没有必要，甚至有害。