脂质沉积性肌病2例报告并文献复习

目的：探讨脂质沉积性肌病（LSM）的临床和肌肉病理特点。方法：分析2例脂质沉积性肌病患者的临床特点、实验室检查、肌活检资料,并复习相关文献。结果：LSM的主要临床特点为四肢近端肌无力和对运动不耐受,肌萎缩多不明显,血清肌酶轻中度升高,肌电图多呈肌源性损害;肌肉病理显示肌纤维空泡变性,脂滴明显增多,电镜也证实肌纤维内脂滴堆积。结论：LSM是一种少见的肌病类型,以肢体近端肌无力和对运动不耐受为主要表现,临床上多长期误诊,确诊依靠肌肉病理检查。     

2例肢带型肌营养不良患者的临床、病理学、基因学研究

对2例肢带型肌营养不良(limb-girdle muscular dystrophy,LGMD)患者的临床特点进行分析,并进行相应的肌肉病理学检查,最后通过全外显子测序确定患者的致病基因。病例1进行了肌肉活检,结果支持Dysferlin病;并在其DYSF基因第50号外显子区域发现了c.5639G>A(p.G1880D),c.5246G>C(p.R1749P)2个杂合突变,进一步的验证发现2个突变分别来自于患者的母亲和父亲。在病例2的CAPN3基因上发现了2009C>A(p.A670E)纯合突变,进一步验证发现病例2的父母均携带该杂合突变。病例1诊断为LGMD2B,而病例2诊断为LGMD2A。对于LGMD患者,综合临床、病理学方法以及基因学方法能对疾病做出较为明确的诊断。     

危重病性多发性神经病与肌病的临床、电生理以及病理特点

目的 探讨危重病性多发性神经病与肌病的临床、电生理以及病理特点.方法 对3例危重病性多发性神经病与肌病患者的临床资料、肌电图结果以及神经和肌肉的病理改变特点进行分析.结果 3例患者均进行了气管插管后呼吸机辅助呼吸;插管7～10 d,患者均出现了四肢肌肉力弱及腱反射低下,14 d后出现四肢肌肉萎缩者2例.肌电图结果示四肢多条运动和感觉神经传导减慢,部分运动神经复合肌肉动作电位波幅下降.神经活检可见有髓神经纤维减少和轴索再生现象;肌肉活检提示神经源性损害及肌病样改变.结论 危重病性多发性神经病与肌病是重症患者气管插管后常见的并发症,电生理和神经肌肉病理检查有助于本病的诊断,预防本病的发生非常重要.     

常染色体隐性遗传性包涵体肌病

常染色体隐性遗传性包涵体肌病主要包括"股四头肌不受累"的包涵体肌病和伴镶边空泡的远端肌病Nonaka远端肌病,此两种疾病具有相似的临床及病理特征,包括成年发病,以下肢胫前肌无力萎缩为主,缓慢进行性发展,晚期四肢远近端肌肉均可受累.     

LPIN1基因突变所致先天性肌病1例报道并文献复习

目的：报道1例LPIN1基因突变引起的先天性肌病,加强对常染色体隐性遗传的LPIN1基因突变相关 表型的认识。方法：收集1例先天性肌病患者的临床表现、实验室检查、影像学表现、肌肉病理以及基因检测 结果,结合文献复习进行分析讨论。结果：患者为男性儿童,自幼肢体肌力差。体格检查见肌张力低下,肢体 肌力差,Gower（+）。血肌酸激酶升高。肌电图示肌源性损害。肌肉核磁见双侧大、小腿肌群广泛受累。肌 肉病理见I型纤维占明显优势,约70%～80%。Sanger测序示LPIN1基因纯合突变（c.357_358insCT）。搜索 既往报道的LPIN1基因相关肌病患者66例,所有患者均表现为横纹肌溶解（肌酸激酶显著增高、肌痛、血红 蛋白尿）,肌肉核磁表现无特异性,最常见合并心肌受累。结论：本病例系国内首次报道LPIN1基因突变所致 的先天性肌病。肌肉活检有助于病理诊断,基因检测对遗传方式确定具有决定意义。     

脂质沉积性肌病1例并文献复习

目的:探讨脂质沉积性肌病(LSM)的临床和肌肉病理特点。方法:分析1例LSM患者的临床特点、实验室检查、肌活检资料,并复习相关文献。结果:LSM患者的主要临床特点为四肢近端肌无力和对运动不耐受。实验室检查示血清肌酶中度升高;肌电图多呈肌源性损害;肌肉病理显示肌纤维空泡变性,脂滴明显增多。结论:LSM是一种少见的肌病类型,患者以肢体近端肌无力及对运动不耐受为主要表现,确诊依靠肌肉病理检查,预后相对良好。     

包涵体肌炎1例报告并文献复习

目的：探讨包涵体肌炎(IBM)的临床表现与病理特点。方法：总结1例IBM患的临床特点，并对肌活检标本进行组织化学、酶组织化学病理和超微结构观察。结果：本例41岁发病，以双下肢无力起病，远端重于近端。血清肌酶轻度升高，肌电图示肌源性损害。肌活检光镜下主要病理改变为肌纤维内出现镶边空泡，有少数变性坏死纤维，伴炎性细胞浸润。电镜证实肌浆内有大量涡轮状髓样小体及管状细丝包涵体。结论：IBM患临床表现缺乏特异性．肌肉活检病理学检查是诊断IBM的重要手段。     

先天性肌病的病理研究进展

先天性肌病是一组出生后或婴幼儿期发病的肌肉疾病,根据骨骼肌活检病理学特征分类,目前已报道的先天性肌病多达40余种,分为3大类：经典型、广泛认可型和可疑型。其临床表现类似,确诊有赖于肌活检病理分析。     

强直性肌营养不良的临床特征、肌电图及肌肉病理研究

目的 研究强直性肌营养不良（DM）的临床特征、肌电图、肌肉病理及诊断学方法。方法 总结2008-2011年住院的临床诊断为强直性肌营养不良的5例患者的临床特征、肌电图、肌肉病理学特征进行系统分析。结果 5例患者均行肌电图、肌肉病理学检查,5例患者的肌电图程肌源性损害,并发现强直电位,5例患者的肌肉病理活检均符合强直性肌营养不良的病理表现。结论 根据患者的临床特点、肌电图检查及肌肉病理可对DM患者进行诊断。     

Fabry病临床报告及病理学研究

目的探讨Fabry病的临床特点及其病理学特征。方法通过1例Fabry病患者详细的临床资料,检索国内外相关资料,研究Fabry病的发病机制、临床特征、治疗及预后。结果典型的临床表现结合特征性病理改变可诊断Fabry病。结论Fabry病为罕见的代谢性遗传性疾病,加强对该病的认识,减少误诊．加强产前诊断可降低本病的发生率。     

Determination of creatine kinase isoenzyme MB activity in serum using immunological inhibition of creatine kinase M subunit activity. Activity kinetics and diagnostic significance in myocardial infarction.

This is a new method for the determination of creatine kinase isoenzyme MB activity in serum. The method uses direct activity measurement of creatine kinase B subunit activity after blocking of CK-M subunit activity by inhibiting antibodies. The test takes no longer than 15 min. The method yields an intra-serial C.V. of 2.0-12.9%, and a C.V. from day to day of 5.5%. The detection limit is 3.4 U/l creatine kinase MB. In the 95 cases with proven myocardial infarction several types of creatine kinase MB activity kinetics could be determined. The percentage of creatine kinase MB of peak CK-total is 6-25%, with a mean of 11.1%. The amount of creatine kinase MB with respect to total CK activity after reinfarction is higher than the amount after initial infarction.     

Dissociable correlates of two classes of retrieval processing in prefrontal cortex

Although substantial evidence suggests that the prefrontal cortex (PFC) implements processes that are critical for accurate episodic memory judgments, the specific roles of different PFC subregions remain unclear. Here, we used event-related functional magnetic resonance imaging to distinguish between prefrontal activity related to operations that (1) influence processing of retrieval cues based on current task demands, or (2) are involved in monitoring the outputs of retrieval. Fourteen participants studied auditory words spoken by a male or female speaker and completed memory tests in which the stimuli were unstudied foil words and studied words spoken by either the same speaker at study, or the alternate speaker. On "general" test trials, participants were to determine whether each word was studied, regardless of the voice of the speaker, whereas on "specific" test trials, participants were to additionally distinguish between studied words that were spoken in the same voice or a different voice at study. Thus, on specific test trials, participants were explicitly required to attend to voice information in order to evaluate each test item. Anterior (right BA 10), dorsolateral prefrontal (right BA 46), and inferior frontal (bilateral BA 47/12) regions were more active during specific than during general trials. Activation in anterior and dorsolateral PFC was enhanced during specific test trials even in response to unstudied items, suggesting that activation in these regions was related to the differential processing of retrieval cues in the two tasks. In contrast, differences between specific and general test trials in inferior frontal regions (bilateral BA 47/12) were seen only for studied items, suggesting a role for these regions in post-retrieval monitoring processes. Results from this study are consistent with the idea that different PFC subregions implement distinct, but complementary processes that collectively support accurate episodic memory judgments.     

俯卧位通气对高海拔地区肺复张治疗无效急性呼吸窘迫综合征患者氧合的影响

目的 探讨俯卧位通气对高海拔地区肺复张术(RM)治疗无效急性呼吸窘迫综合征(ARDS)患者的治疗作用.方法 从海拔2260m的地区医院筛选RM治疗无效的41例ARDS患者[平均氧合指数( PaO2/FiO2)较RM前升高＜20％视为RM无效],依不同病因分为肺内源性ARDS组(ARDSp组)和肺外源性ARDS组(ARDSexp组),每组再按信封法随机分为俯卧位组和仰卧位组,即ARDSp俯卧位组(11例)、ARDSp仰卧位组(9例)、ARDSexp俯卧位组(10例)、ARDSexp仰卧位组(11例).在通气前及通气1、2、3、4h监测动脉血氧分压( PaO2)、PaO2/FiO2、静态顺应性(Cst)、气道阻力(Raw)的变化.结果 通气lh时,ARDSexp俯卧位组PaO2/FiO2( mm Hg,l mm Hg=0.133 kPa)即较通气前显著升高(157.4±40.6比129.3±48.7,P＜0.05),并随通气时间延长呈持续增高趋势,4h达峰值(219.1 ±41.1);且ARDSexp俯卧位组通气3h内PaO2/FiO2较其他3组显著增高,另3组间则差异无统计学意义.ARDSp俯卧位组、ARDSexp俯卧位组通气4h时PaO2/FiO2均较相应仰卧位组显著增高(208.8±39.7比127.4±47.1,219.1±41.1比124.9±50.8,均P＜0.05).4组通气前后Cst无显著改变,各组间差异也无统计学意义.ARDSp俯卧位组通气4h时Raw(cmH2O·L-1·s-1)较通气前显著降低(6.8±1.7比10.7±1.8,P＜0.05),且明显低于其他3组;其他3组各时间点Raw组内及组间比较差异均无统计学意义.结论 俯卧位通气作为ARDS机械通气重要策略之一,可以改善RM无效高原ARDS患者的氧合,为抢救患者赢得宝贵的时间.     

Digital imaging among medical facilities

The Department of Veterans Affairs (VA) in the USA operates a network of 172 medical centres which all utilize a hospital information system (HIS) which has been developed and is currently maintained by the VA. During the past several years, an image management and communication module has been developed, installed and clinically utilized at the Washington DC and Maryland VA Medical Centres. This image management and communication system, referred to as the decentralized hospital computer program (DHCP) imaging system, is fully integrated with a commercial picture archiving and communication system (PACS). The system is utilized to capture, archive, and display all images generated within the hospital including radiology, nuclear medicine, pathology, endoscopy, bronchoscopy, and dermatology, intraoperative photographs, ECG data, and a limited number of paper documents. The ultimate goal of the project is to have all patient text and image data available at any clinical workstation to any authorized user anywhere within the network of medical centres. Clinical requirements for an imaging workstation include ease of use, rapid and reliable access to the complete set of patient information, and images which are of acceptable quality to meet the requirements of the user and the subspecialty. Patient confidentiality and data security must be safeguarded at all times. Integration of the images with the remainder of the patient's database was found to be critical to the success of the project. The experience at the Washington and Maryland facilities suggests that an imaging system that is successfully integrated with a hospital information system can provide substantial clinical and economic benefits both within and among medical centres. Clinical acceptance and utilization of the system has been excellent, particularly in diagnostic radiology where DHCP Imaging has been interfaced to a commercial PAC system. Based upon this initial experience, the VA has begun to deploy the system throughout its large network of medical centres.     

Myocardial elastography at both high temporal and spatial resolution for the detection of infarcts

Myocardial elastography is a novel method for noninvasively assessing regional myocardial function, with the advantages of high spatial and temporal resolution and high signal-to-noise ratio (SNR). In this paper, in-vivo experiments were performed in anesthetized normal and infarcted mice (one day after left anterior descending coronary artery [LAD] ligation) using a high-resolution (30 MHz) ultrasound system (Vevo 770, VisualSonics Inc., Toronto, ON, Canada). Radiofrequency (RF) signals of the left ventricle (LV) in longitudinal (long-axis) view and the associated electrocardiogram (ECG) were simultaneously acquired. Using a retrospective ECG gating technique, 2-D full field-of-view RF frames were acquired at an extremely high frame rate (8 kHz) that resulted in high-quality incremental displacement and strain estimation of the myocardium. The incremental results were further accumulated to obtain the cumulative displacements and strains. Two-dimensional and M-mode displacement images and strain images (elastograms), as well as displacement and strain profiles as a function of time, were compared between normal and infarcted mice. Incremental results clearly depicted cardiac events including LV contraction, LV relaxation and isovolumetric phases in both normal and infarcted mice, and also evidently indicated reduced motion and deformation in the infarcted myocardium. The elastograms indicated that the infarcted regions underwent thinning during systole rather than thickening, as in the normal case. The cumulative elastograms were found to have higher elastographic SNR (SNR(e)) than the incremental elastograms (e.g., 10.6 vs. 4.7 in a normal myocardium, and 6.0 vs. 2.4 in an infarcted myocardium). Finally, preliminary statistical results from nine normal (m = 9) and seven infarcted (n = 7) mice indicated the capability of the cumulative strain in differentiating infracted from normal myocardia. In conclusion, myocardial elastography could provide regional strain information at simultaneously high temporal (>/=0.125 ms) and spatial ( approximately 55 microm) resolution as well as high precision ( approximately 0.05 microm displacement). This technique was thus capable of accurately characterizing normal myocardial function throughout an entire cardiac cycle, at the same high resolution, and detecting and localizing myocardial infarction in vivo.     

Clinical Pharmacokinetics of Morphine

Morphine, the most widely used mu-opioid analgesic for acute and chronic pain, is the standard against which new analgesics are measured. A thorough understanding of the pharmacokinetics of morphine is required in order to safely and effectively use this analgesic in a wide variety of patients with different levels of organ function. A MEDLINE search was conducted to identify literature published between 1966 and January 2002 relevant to the pharmacokinetics of morphine. These publications were reviewed and the literature summarized regarding unique and clinically important elements of morphine disposition relative to its parenteral administration (including intravenous, intramuscular, subcutaneous, epidural and intrathecal administration), absorption profile (immediate release, controlled release, and sublingual/buccal, and rectal administration), distribution, and its metabolism/ excretion. Special populations, including infants, elderly, and those with renal/liver failure, have a unique morphine pharmacokinetic profile that must be taken into account in order to maximize analgesic efficacy and reduce the risk of adverse events.