生物芯片技术及其在临床检验医学中的应用进展

生物芯片技术是一项发展迅猛的高新技术,其在医学领域有很重要的应用价值,为现代医学科学及医学诊断学的发展提供了强有力的工具。特别是在临床检验医学方面,生物芯片技术已经被应用于病毒／细菌的检测,自身免疫疾病的免疫标志物的检测,遗传性疾病的检测及肿瘤免疫标志物的单一检测及其联合检测等方面。在不久的将来,生物芯片技术将在临床检验医学中发挥更大的作用。     

Mucocutaneous lymph node syndrome with hydrops of the gallbladder diagnosed by ultrasound

One of the complications of the mucocutaneous lymph node syndrome is acute hydrops of the gallbladder. Although surgery may be required occasionally, spontaneous resolution of gallbladder hydrops in patients is common. Ultrasound is the optimal method for evaluating these patients.     

BNP水平与急性冠脉综合征远期预后相关性分析

【目的】探讨脑利尿钠肽（BNP）水平与急性冠脉综合征（ACS）发生主要心血管不良事件的相关性。【方法】收集2007年1月至2008年12月本院收治的不稳定型心绞痛（UA）、急性非ST段抬高心肌梗死（NSTEMI）及急性ST段抬高心肌梗死（STEMI）239例患者的临床资料,于2009年1月至12月根据调查问卷电话随访发生MACE情况,分析BNP与ACS及MACE的相关性。【结果]BNP水平为AMI组（NSTEMl及STEMI组）高于UA组（P〈o．01）;MACE累积发生率分别为uA组31例（26．50％）,NSTEMI组57例（34．75％）,STEMI组93例（38．91％）,差异无显著性（P〉O．05）;NSTEMI组BNP水平大于114．5pg／mL,STEMI组BNP水平大于155．5pg／mL,MACE发生风险增加,灵敏度分别为75％、67．4％,特异度分别为90．9％、71．7％。[结论]AMI患者BNP水平高于uA患者;BNP大于114．5pg／mL及155．5pg／mL有助于预测NSTEMI及STEMI发生MACE风险．     

An Adult Male With Sporadic Creutzfeldt-Jakob Disease: A Case Report

Creutzfeldt-Jakob disease (CJD) is a transmissible, progressive, neurogenerative disease that carries a uniformly poor prognosis. It is caused by an accumulation of misfolded prions that affect the structural conformation of the surrounding proteins. Sporadic CJD is the most common form of CJD, accounting for 85% to 95% of all CJD cases. The rarity of CJD makes its diagnosis challenging, and it can mimic other neurologic conditions. The CJD International Surveillance Network diagnostic criteria include clinical features and diagnostic findings with which health care providers should be familiar. The purpose of this report is to present a case of postmortem definite CJD.     

Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series

Cleidocranial dysplasia is a rare disease with an autosomal‐dominant inheritance that mainly affects the bones of the axial skeleton. In this report, we discuss the clinical and radiological signs of a case series comprising three sisters and the son of one of the sisters, all with suspected bone dysplasia.     

Angiography of colonic Crohn's disease

The zoning sign can be demonstrated in 50% of angiographies in colonic Crohn's disease and provides a reliable differential diagnostic aid against ulcerative colitis. The composition of the sign has been enlarged by the recognition of a zone C. The application of angiography in the radiologic diagnosis of inflammatory disease of the colon is discussed.     

褪黑素与神经退行性疾病相关的研究进展

氧化应激和线粒体功能失调被认为是神经退行性疾病如阿尔茨海默病和帕金森病共同的病理生理机制。随着年龄的增加,褪黑素水平明显的降低可能是年老人体内氧化应激增加的原因之一,因此褪黑素的神经保护作用日益引起关注。本文就近年褪黑素抗神经退行性疾病的机制,包括自由基清除作用、抑制凋亡、神经保护作用、神经营养作用、抗β-淀粉样蛋白神经毒性、调节炎症反应和调节细胞骨架蛋白等方面作一综述。     

CKD非透析患者CVD的发生情况及影响因素分析

目的研究慢性肾脏病（CKD）非透析患心血管疾病（CVD）的发生情况及危险因素。方法分析695例cKD非透析患者基础资料、实验室指标、心脏彩色超声指标及其与既往CVD病史之间的关系,研究CKD非透析患者CVD的发生情况,探讨与其相关的危险因素。结果695例患者中226例（32．5％）有CVD既往史,Logistic回归分析显示,年龄、GFR、SBP、DBP、颈总动脉内径、颈总动脉IMT及分叉部IMT是cKD非透析患者CVD的独立危险因素。结论cKD非透析患者CVD的发生率较正常人显著升高,年龄、高血压、脂质代谢紊乱、微炎症状态、贫血、低蛋白血症、钙磷代谢紊乱等因素与CKD患者CVD的发生、发展密切相关。     

Castleman病合并贫血的临床分析

目的:本研究旨在探讨Castleman病(CD)合并贫血的特征。方法:回顾性研究33例CD患者的临床资料,分析贫血发生率和临床特征,探讨贫血类型及其治疗和疗效。结果:13/33(39%)例CD初诊时有贫血表现,多为轻度,正细胞正色素型。多中心CD(multicentric CD,MCD)贫血发生率高于单中心CD(unicentric CD,UCD)(85%vs 10%)(P0.001)。与无贫血者相比,CD合并贫血者多具有系统性表现,且血沉、炎症指标(C反应蛋白和纤维蛋白原)水平、多克隆免疫球蛋白增多及自身抗体阳性的发生率均升高(P均0.05)。进一步分析贫血类型发现,除2例自身免疫性溶血性贫血(AIHA)和1例脾亢继发贫血外,余10例均具有慢性病贫血(ACD)的特征,其血红蛋白水平与C反应蛋白(CRP)及纤维蛋白原均呈负相关(r分别为-0.917、-0.717,P均0.001)。UCD合并贫血者经肿瘤切除后治愈,MCD合并贫血者经免疫和/或化疗治疗后贫血好转。结论:贫血为MCD常见的系统性表现,亦可见于UCD。除少数表现为AIHA外,多数具有ACD特征。CD合并贫血的治疗以治疗原发病为主。     

Distribution of tick-borne diseases in Japan: Past patterns and implications for the future

The rapid geographical spread of tick-borne diseases (TBDs) worldwide has recently provoked significant concerns amongst public health authorities. Tick-borne pathogens are maintained in enzootic cycles involving ticks and wild animal hosts, with epizootic spread to other mammals, including livestock and humans. Despite the increasing public health concern, current TBD diagnostic tests and treatments are inadequate, and predictive models of future risks posed by TBDs are limited by the heterogeneity of environmental, vector, and host factors, even in neighboring regions. In recent years, infections resulting in severe fever with thrombocytopenia syndrome (SFTS), Japanese spotted fever, and the scrub typhus pathogens have been reported frequently in addition to traditional TBDs in Japan. The Japanese archipelago is extremely elongated from north to south and its climate varies considerably, creating remarkable regional differences in tick species. The importance of continuous surveillance of TBDs has been growing in terms of geopathology – studies dealing with the relationships between geographic factors and the causes of specific diseases – in Japan and neighboring areas among eastern Asian countries, including China and Korea. In this review, we summarize detailed information regarding the history and epidemic status of human TBDs in Japan.     

Mattis痴呆程度量表在血管性痴呆和Alzheimer病中的应用

目的：探讨Mattis痴呆程度量表评价血管性痴呆和Alzheimer病的作用。方法：应用Mattis痴呆程度量表对30例正常老年人，20例血管性痴呆病人和15例Alzheimer病人进行了测试。结果：血管性痴呆患者和Alzheimer病患者在启动和保存能力、概念形成能力和记忆力方面均有显著障碍（P＜0．05）。MDRS的注意力分测验、空间结构分测验在三组间未发现有统计学意义的改变。对早期血管性痴呆和Alzheimer病痴呆的区别上，MDRS的启动和保存分测验，记忆分测验的得分差异较大，尤以记忆障碍的改变突出。结论：对痴呆的评价中记忆功能的评价意义较大。     

急性冠脉综合征患者炎性因子的表达与室性心律失常的关系

[目的]探讨急性冠脉综合征(ACS)患者的炎性因子的表达与室性心律失常的关系.[方法]本院115名确诊为ACS的患者其中,ST段抬高型心肌梗死(STEMI)54例,非ST段抬高型心肌梗死(NSTEMI)22例,不稳定型心绞痛(UA)39例.分别在入院时、7 d、14 d抽静脉血测定CD40配体(CD40L)、肿瘤坏死因...     

Glucocerebrosidase mutations and the pathogenesis of Parkinson disease

Abstract

Parkinson disease (PD) is the second most common neurodegenerative disease after Alzheimer disease with a lifetime risk in the UK population of almost 5%. An association between PD and Gaucher disease (GD) derived from the observation that GD patients and their heterozygous carrier relatives were at increased risk of PD. GD is an autosomal recessive lysosomal storage disorder caused by homozygous mutations in the gene encoding glucocerebrosidase (GBA). Approximately 5%–10% of PD patients have GBA mutations, making these mutations numerically the most important genetic predisposing risk factor for the development of PD identified to date. GBA mutations result in a phenotype that is virtually indistinguishable clinically, pharmacologically, and pathologically from sporadic PD, except GBA mutations result in a slightly earlier age of onset and more frequent cognitive impairment among PD patients. The mechanisms by which GBA mutations result in PD are not yet understood. Both reduced glucocerebrosidase enzyme (GCase) activity with lysosomal dysfunction, and unfolded protein response (UPR) with endoplasmic reticulum-associated degradation (ERAD) and stress are considered contributory.     

干燥综合征致成人烟雾病1例

烟雾病是一种罕见的颅内血管病变,通过对干燥综合征所致成人烟雾病单发病例资料及临床特征分析发现,烟雾病在儿童多为先天性血管发育异常所致,而成人则以出血表现为主。DSA能准确显示烟雾病病变血管的部位和程度,显示侧支循环途径及脑底异常血管网,目前仍被认为是诊断烟雾病的金标准。该病目前还没有十分理想的治疗方法,针对病因和症状进行治疗效果满意。康复期患者仍应继续控制血压等脑血管病的相关危险因素。     

累及肺脏的克罗恩病一例并文献复习

目的 探讨累及肺脏克罗恩病的临床表现.方法 对我院收治1例临床确诊累及肺脏克罗恩病患者的临床资料进行分析,并结合文献进行复习.结果 患者临床表现为咳嗽、咳痰、发热,胸部CT示双肺斑片状阴影,病原学检查阴性,抗菌治疗2个月双肺阴影无明显变化,纤维支气管镜示气管及右上叶开口处结节状新生物,病理示肉芽组织息肉状增生,给予泼尼松和柳氮磺胺吡啶治疗半个月后双肺阴影明显消散,气管内结节消失,右上叶开口处结节明显缩小.检测到以英文发表的相关文献,病理确诊的克罗恩病累及肺脏或合并肺部并发症病例共34例.克罗恩病累及肺脏罕见,以咳嗽、咳痰、发热为常见临床表现,肺脏和肠道常有相同病变理变化,即肉芽肿性炎症.对糖皮质激素反应良好,可应用糖皮质激素加柳氮磺胺吡啶治疗.结论 克罗恩病出现呼吸道症状时应考虑累及肺脏的可能,结合临床和病理可以确诊.

Abstract：

Objective To describe the characteristics of pulmonary involvement in Crohn was described and relevant literature were reviewed. Results The patient showed chief complaints of cough,expectoration and fever. The chest CT scan revealed bilateral lung opacity shadows ,Ziehl-Neelsen acid-fast stain examination in sputum and cultures got negative results for many times. Chest CT scan revealed no dissipation after different antimicrobials treatment for 2 months. The fiberoptic bronchoscopy was performed, which showed nodular lesions in the trachea and beside the opening of right upper lobe. Histopathology showed polypoid hyperplasia of granulation tissue. The bilateral patchy opacity dissipated, the nodes in the trachea disappeared and the nodes beside the opening of right upper lobe diminished obviously after the patient was treated with oral prednisone and salicylazosulfapyridine (SASP). Pulmonary involvement in Crohn disease is very rare and it can involve any part of the lungs. The most common manifestations are cough, expectoration and fever. The lung and gastrointestinal system often share similar pathogenetic changes: granulomatous inflammation. These patients responded well to combination use of glucocorticoid and SASP. Conclusion Pulmonary involvement should be considered when patients with Crohn disease manifested with respiratory symptoms, which can be definitely diagnosed by clinical features and histopathological examintation.     

Binswanger病的颈动脉多普勒超声检查

目的：用彩色多普勒超声观察Binswanger病（BD）患者颈动脉形态及血流动力学的改变。方法：观察了48例BD患者和性别、年龄相匹配的48例健康对照组两侧颈总动脉内中膜厚度、斑块情况及收缩期峰速、舒张未流速。结果：BD组,颈动脉内径增宽、颈总动脉内中膜厚度较对照组明显增厚,发现斑块32例,占66．7％,而对照组8例,占16．7％。同时发现,BD组颈总动脉收缩期峰速和舒张未流速均明显低于对照组。结论：BD病同颈部动脉硬化有关,其发生和脑部的低灌注有密切关系。