The Mainz Severity Score Index: a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy

Anderson-Fabry disease (AFD) is an X-linked disorder caused by deficient activity of the lysosomal enzyme alpha-galactosidase A. The availability of enzyme replacement therapy (ERT) for this debilitating condition has led to the need for a convenient and sensitive instrument to monitor clinical effects in an individual patient. This study aimed to develop a scoring system--the Mainz Severity Score Index (MSSI)--to measure the severity of AFD and to monitor the clinical course of the disease in response to ERT. Thirty-nine patients (24 males and 15 females) with AFD were assessed using the MSSI immediately before and 1 year after commencing agalsidase alfa ERT. Control data were obtained from 23 patients in whom AFD was excluded. The MSSI of patients with AFD was significantly higher than that of patients with other severe debilitating diseases. The MSSI indicated that, although more men than women had symptoms classified as severe, overall, the median total severity scores were not significantly different between male and female patients. One year of ERT with agalsidase alfa led, in all patients, to a significant (p < 0.001) reduction in MSSI score (by a median of nine points). This study has shown that the MSSI score may be a useful, specific measure for objectively assessing the severity of AFD and for monitoring ERT-related treatment effects.     

壳聚糖改性丝素合金膜的制备及其相关性质研究

以无毒氧化葡萄糖醛作交联剂 ,采用溶液共混交联法制备壳聚糖改性丝素合金膜。用 FTIR、DSC表征其结构 ,测定其等电点、力学性能、不同 p H条件下的溶胀率和对模型药物 5 - Fu的渗透性。结果表明 :改性丝素合金膜中丝素和壳聚糖分子间存在着强烈的氢键相互作用及良好的相容性。改性膜的等电点对应的 p H值是 5 .35 ,而丝素膜的等电点是 4 .5。改性膜的力学性能优于单组分膜 ,当壳聚糖含量为 4 0 %～ 6 0 %时 ,具有最大的抗张强度和拉伸率 ,分别为 71.4～ 72 .7MPa和 2 .96～ 3.82 %。改性丝素合金膜对 5 - Fu的渗透量与壳聚糖的含量和时间成正相关关系 ,渗透系数随 p H值增大 (5→ 9)先逐渐减小然后略有增大 ,在 p H=7时最小。     

三种手术方式对腰椎间盘突出症临床疗效的影响

目的探讨三种手术方式对腰椎间盘突出症(LDH)临床疗效的影响。方法 2007年1月~2012年10月于我科行手术治疗LDH的患者中选择110例患者,男63例,女47例;年龄18~73岁,平均45岁;均为单节段椎间盘突出(L3/46例,L4/560例,L5/S144例)。分别采用腰椎间盘髓核摘除术(A组,40例)、椎间融合联合单侧椎弓根螺钉内固定(B组,51例)、腰椎间盘髓核摘除联合棘突间稳定装置X-STOP系统植入(C组,19例),3组患者一般资料比较差异均无统计学意义(0.05)。每位患者术前及术后末次随访时通过完成欧洲五维健康量表及进行Oswestry功能障碍指数评分,比较评分改善情况。结果 110例患者均获得随访,平均随访时间18个月(6~38个月),末次随访时EQ-VAS评分、EQ-5D健康指数和ODI评分组内比较均明显改善(0.05),组间比较均无统计学差异(0.05)。结论对于单纯LDH可行腰椎间盘髓核摘除术,LDH合并腰椎不稳者可行椎间融合+单侧椎弓根螺钉内固定,对于椎间盘突出合并椎管狭窄,尤其是临床症状在屈曲位缓解的患者尤其适宜椎间盘髓核摘除联合棘突间动态内固定。     

内脏高敏感大鼠结肠电活动及运动异常

目的探讨内脏高敏感大鼠结肠电活动及运动的特点。方法实验分对照组和模型组,模型组腹腔注射鸡卵清蛋白使大鼠内脏致敏。2周后,记录结肠快波、慢波及收缩波,观察消化间期移行性综合肌电IMC的周期、Ⅲ期持续时间、快波和慢波的波动频率及平均最大振幅,记录结肠收缩波数目及收缩波指数。结果模型组消化间期复合肌电的周期延长(P<0·01),Ⅲ期持续时间延长(P<0·01),快波的波动率加快(P<0·05),平均最大振幅增大(P<0·01)。慢波的波动频率加快(P<0·05),平均最大振幅增大(P<0·01)。收缩波数目增加(P<0·05),收缩波指数增大(P<0·05)。结论内脏高敏感大鼠结肠电活动及运动有明显异常。     

双重实时PCR快速同时检测霍乱弧菌和副溶血弧菌

目的建立改良分子信标双重实时PCR同时检测霍乱弧菌和副溶血弧菌的快速方法,应用于霍乱监测、副溶血弧菌食物中毒的快速诊断和海产品检验。方法根据GenBank公布的霍乱弧菌肠毒素基因A亚单位(ctxA)和副溶血弧菌的耐热直接溶血毒素基因(TDH)的保守序列,分别设计引物和改良分子信标探针,以10种细菌作对照,建立双重实时PCR改良分子信标检测体系,应用于副溶血弧菌食物中毒快速诊断和霍乱监测。结果改良分子信标双重实时PCR反应体系DNA灵敏度为102.4～166.6fgμl,菌液灵敏度为32～64CFUml或3～6CFUPCR反应体系,无交叉反应。此反应体系同时检测40株副溶血弧菌和50株霍乱弧菌,均出现特异的荧光信号,两种细菌检测互不干扰。对3起细菌性食物中毒共48份样品和100份海产品进行检测,9份副溶血弧菌实时PCR阳性,其中7份副溶血弧菌细菌培养阳性,其余样品都为阴性。从样品处理到检测结果仅需1天时间。结论改良分子信标双重实时PCR检测体系快速、灵敏度高、特异性强,可用于霍乱和副溶血弧菌食物中毒的快速诊断,为食源性疾病的分子流行病学调查提供新的检测手段。     

The nonreplicating smallpox candidate vaccines defective vaccinia Lister (dVV-L) and modified vaccinia Ankara (MVA) elicit robust long-term protection

Current smallpox vaccines are live vaccinia viruses that replicate in the vaccinee inducing immunity against the deadly disease smallpox. Replication resulting in virus spread within the host, however, is the major cause of severe postvaccinal adverse events. Therefore, attenuated strains such as modified vaccinia Ankara (MVA) or LC16m8 are candidates as next generation vaccines. These strains are usually grown in primary cells in which mass production is difficult and have an unknown protective potential in humans. Proven vaccine strains of defined origin and modern production techniques are therefore desirable. In this study, defective vaccinia virus (dVV) lacking a gene essential for replication (derived from the Lister vaccine in a complementing cell line) was compared with the Wyeth smallpox vaccine strain and with MVA in mouse animal models using cowpox and ectromelia virus challenge. Similar to MVA, prime-boost immunizations with defective vaccinia induced robust long-term immunity, suggesting it as a promising next generation smallpox vaccine.     

Konsekutive Serie von 100 Colonresektionen mit einer modifizierten fortlaufenden Nahttechnik

Zusammenfassung Es wird anhand einer konsekutiven Serie über eine modifizierte fortlaufende Nahttechnik am Colon berichtet, die gerade bei älteren Patienten eine sichere und rasche Methode der Anastomosierung darstellt. Die klinisch relevante Insuffizienzrate sowie auch die Letalitätsrate betrugen in dieser Serie je 2%, wobei die Ursachen für die Letalität aber keine Folge der Insuffizienz waren. Die Komplikationsrate betrug 11%, die urologischen Komplikationen mit 6% standen hierbei im Vordergrund.

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A consecutive series of 100 resections of the colon using a modified technique of continuous (running away) suture

Summary Based on a consecutive series it is reported about a modified type of continuous suture on the colon, used especially in elderly patients for being a secure and prompt method of anastomosing. The rate of insufficiency and mortality, as far as the clinical relevance is concerned, turns out to be 2% each and there was no relation between mortality and insufficient anastomosis. The complication rate was 11%, whereby the urological complications predominated with 6% of the total.

     

家庭医生签约服务模式下全科团队年度考核指标体系构建

目的建立一套家庭医生签约服务模式下的全科团队年度考核指标体系。方法通过文献回顾法和半结构访谈法初步拟定指标初稿;邀请15名专家开展专家函询,评价全科团队年度考核指标体系重要性和可行性,并采用界值法对指标进行筛选,采用层次分析法确定各级指标权重。结果两轮函询专家积极系数均为100%,权威系数分别为0.83和0.75。最终确定家庭医生签约服务模式下全科团队年度考核指标体系包括服务数量、服务质量和服务效果3个维度共19项指标。结论 构建的家庭医生签约服务模式下的全科团队年度考核指标体系具有一定科学性和实用性,下一步有待结合实证结果对指标体系进行优化。     

病例组合指数的内涵及应用探讨

国内普遍认为病例组合指数(CMI)属于医疗服务能力维度,体现收治疾病的疑难复杂程度和医疗服务的整体技术难度。通过结构方程模型分析发现,CMI与时间消耗指数、费用消耗指数等服务效率维度指标联系更紧密,与DRG组数、入组病例数及总权重等服务能力维度指标联系相对较弱,故应归属医疗服务效率维度。CMI的直接应用主要是对平均住院费用的预测控制及对科室绩效的评价;CMI的间接应用主要是对管理指标的调整/校正。医院管理者应准确把握CMI内涵,恰当应用CMI对不同层级及不同类别住院费用进行预测、评价与控制,并对其他管理指标进行调整后再评价。     

国内外产科质量指标体系现状和启示

通过文献回顾,对世界卫生组织产科质量指标体系、英国产科质量指标体系、美国产科质量指标体系、欧洲围产期保健计划、丹麦产科质量指标体系及我国的产科质量指标体系现状进行总结。认为我国产科质量指标体系缺乏最佳的指标变化趋势及期望达到的目标值,缺少基于产科质量指标进行质量改进的研究和证据,尚无基于产科质量指标体系的信息化质控平台。对此,建议探索产科质量控制指标的适宜标准值,建立质量指标和医疗质量评价的关联性,拓展指标体系内涵,加快信息化建设。