4个具有相同突变的CADASIL家系临床特征分析

目的分析总结4个来自河南地区不同家系但具有相同突变的伴有皮质下梗死和白质脑病常染色体显性遗传性脑动脉病(cerebral autosomal dominantarteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)家系的影像学表现及临床特征,调查家系成员的发病情况。方法回顾性分析4个CADASIL家系先证者的影像学特征和临床特征,调查4个家系中其他成员的发病情况,对患者行Notch3基因3、4、11、18号外显子突变检测,并进行分析。结果4例先证者均以单侧肢体无力为始发症状,其中2例有高血压病史,1例合并糖尿病,1例身体健康;1例有高血压病患者影像学提示丘脑出血,患者无相关主诉;基因检测发现4例先证者及部分家系成员存在p.R607C突变位点。结论存在p.R607C突变位点的4例CADASIL患者临床上首发症状相似,但不同家系成员间存在个体化差异;高血压、糖尿病等脑血管病危险因素可存在于CADASIL患者。     

偏头痛与CADASIL的相关性及可能机制

常染色体显性遗传性动脉病伴皮层下梗死与白质脑病(cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy,CADASIL)是NOTCH3基因突变导致的遗传性动脉疾病,临床表型有许多异变性,其中偏头痛多出现在CADASIL病程早期,是最常见的临床特征。两者的发病有一定的相关性,其发病机制尚不清楚。目前研究认为血管平滑肌细胞变性,脑血流量和血管反应性下降,敏感性基因DNA突变,以及对皮层传播性抑制(coritcal spreading depression,CSD)易感性增加及共享的遗传因素是可能的发病机制。     

CADA7SIL磁共振表现

目的：探讨皮层下梗死伴白质脑病的常染色体显性遗传性脑动脉病（CADASIL）的磁共振表现.材料与方法：回顾性分析有临床症状的一家系三兄弟患者资料,分析其MRI信号改变、发病部位和预后.结果：3名CADSSIL患者具有或轻或重神经缺失,MRI表现均异常.第一,脑室旁周围白质、脑干、基底节区和丘脑出现多发腔隙性梗塞;第二,脑白质病出现在皮层下区域,具有对称并相互融合的趋势,其中以颞叶多见.第三,同时伴有脑萎缩.结论：结合MRI表现（皮层下弥漫对称脱髓鞘和腔隙性脑梗塞）和家族史可诊断CADASIL此病.     

变性高压液相色谱分析在中国家族性CADASIL患者基因筛查中的应用

目的:探讨变性高压液相色谱分析(DHPLC)在伴皮质下梗死及白质脑病的常染色体显性遗传性脑动脉病(CADASIL)患者诊断中的方法和价值。方法:运用DHPLC及DNA直接测序技术,对CADASIL家系先证者、家系成员14例(CADASIL组)及健康对照者100例(对照组)进行Notch3基因检测。结果:CADASIL组发现3种致病性突变,其中Cys134Tyr为新的突变类型,同时发现15种多态类型;对照组中未发现突变。结论:DHPLC技术在筛查Notch3中起重要作用,但在筛查时应进行多个柱温的测试,温度调换以2℃为宜。     

CADASIL伴脑出血的临床和基因分析:3例报告

目的:评估常染色体显性遗传性皮质下梗死和白质脑病(CADASIL)伴脑出血(ICH)的临床表现、影像学和基因特征。方法:CADASIL伴ICH患者3例,在Pubmed数据库纳入另外25例有详细资料的患者,评估出血性CADASIL的临床表现、影像学特征和基因突变特点。结果:共纳入患者28例,男19例、女9例,平均年龄(54.2±13.4)岁。高血压病是最常见的危险因素(18例,64.3%),50%的患者曾接受抗栓治疗。10例患者以ICH为首发表现,最常见的出血部位是基底节和脑叶。11号外显子R544C位点是最常见的突变位点(46.2%)。18例患者(64.3%)发现数量不等的微出血灶。结论:CADASIL可发生ICH且可能是首发临床表现。严格控制高血压和谨慎使用抗血栓药可能有助于防止CADASIL患者发生ICH。     

急性脑干梗死165例危险因素、临床特点及血管病变分析

目的探讨急性脑干梗死患者临床特点、危险因素及血管病变特点。方法回顾性收集2013年8月至2016年3月首都医科大学附属北京友谊医院收治的165例急性脑干梗死患者的临床资料及头颈部CT血管成像(CTA)结果。分析比较脑干梗死的临床特点、危险因素及血管病变特点。结果①脑干梗死的最常见危险因素依次为高血压(83. 03%)、吸烟(55. 76%)、糖尿病(50. 91%)、高脂血症(50. 30%)和饮酒史(47. 88%)。各项危险因素在不同梗死部位患者之间差异无统计学意义(P> 0. 05)。②脑干梗死常见症状和体征依次为肢体无力(69. 70%)、头晕/眩晕(58. 79%)、感觉障碍(41. 82%)、共济失调(35. 15%)和构音障碍(34. 55%)。③脑干梗死多发于脑桥(73. 94%),其次为延髓(10. 91%)、中脑(4. 85%);合并脑干外多病灶患者占10. 91%。④头颈部CTA结果显示,165例患者中,椎动脉狭窄患者79例,占47. 88%;基底动脉狭窄患者13例,占7. 88%;椎动脉发育不良患者30例,占18. 18%。不同梗死部位患者椎动脉狭窄及椎动脉发育不良发生率差异无统计学意义(P> 0. 05)。基底动脉狭窄发生率在不同梗死部位患者中差异具有统计学意义(P <0. 05)。结论脑干梗死最易发生于脑桥,其最常见的危险因素是高血压。脑干不同部位梗死的患者基底动脉狭窄发生率有显著差异。     

CADASIL病

CADASIL(伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病 )的研究是近年来证实遗传因素参与脑血管病发病的重要进展之一 ,其主要临床特点为家族遗传方式起病、中年发病、逐渐进展的缺血性脑卒中样病程、假性球麻痹、进行性血管性痴呆、先兆症状的偏头痛发作和精神症状。脑内广泛多发的白质灶、明确的MRI白质异常信号以及病理学明确的小动脉病变是本病的基本特征。分子遗传学研究发现 19号染色体Notch3基因突变与本病有关     

易误诊为大脑半球梗死的脑干梗死28例诊治分析

目的：探讨貌似大脑半球病变的脑干梗死的临床和影像特点,并分析定位错误的原因。方法：对28例貌似大脑半球病变的脑干梗死患者的危险因素、临床表现及影像学特点进行分析。探讨该病的临床特点,提高确诊率。结果：28例貌似大脑半球病变的脑干梗死患者中,糖尿病或糖耐量异常者16例,单纯运动性瘫痪19例,中枢性面舌瘫8例,偏瘫伴感觉减退3例,头晕18例,应激性溃疡13例;经核磁共振证实,病灶在脑桥23例,中脑5例。结论：对有糖尿病或糖耐量异常、起病有头晕、临床表现为单纯运动性瘫痪、有应激性溃疡的患者,要注意病灶可能在脑干,应尽早做核磁共振检查明确诊断。     

不典型脑干梗死16例分析

目的分析不典型脑干梗死的临床症状、体征及影像学特点，探讨其诊断特点与误诊原因。方法经MRI证实的脑干梗死40例，选择其中检查前未确诊或诊断有误的16例，就其病因危险因素、临床表现、体征进行分析，并与头颅CT及MRI对照，分析探讨不典型脑干梗死的特点。结果误诊病例多为桥脑梗死，多有卒中危险因素，部分病例有前驱症状，体征多样化，均无典型交叉瘫等脑干症状和体征。结论部分脑干梗死患者可无典型症状体征，在没有特殊确诊手段的情况下，诊断时要考虑到脑干病变的可能性，尽快完善MRI检查。     

伴皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病患者软脑膜脑动脉管壁特点的研究

目的：观察伴有皮质下梗死和白质脑病的常染色体显性遗传性脑动脉病( CADASIL)患者软脑膜动脉管壁结构及血管弹性指数的变化。方法对6例有基因突变的CADASIL患者组成的观察组的额叶、颞叶皮层脑组织切片与对照组的脑组织切片进行penta-chrome染色,对所有切片内的软脑膜血管的内膜、中膜、外膜厚度、血管腔内径和外径进行测量,计算血管弹性指数( SI)。结果 CADASIL患者的软脑膜血管的内膜与对照组相比显著增厚(P<0.0001),中膜厚度与对照组相比明显变薄(P<0.01),外膜与对照组相比差别无显著性,CADASIL的血管腔内径与对照组相比并无狭窄,血管弹性指数SI与对照组相比显著增高(P<0.00001)。结论 CADASIL的软脑膜动脉的主要病理性改变是内膜显著增厚和中膜变薄,但血管内径无明显改变。     

Guns and Knives in New Mexico: Patterns of Penetrating Trauma, 1978–1993

Objective: To identify patterns of nonfatal and fatal penetrating trauma among children and adults in New Mexico using ED and medical examiner data.
Methods: The authors retrospectively sampled in 5-year intervals all victims of penetrating trauma who presented to either the state Level-1 trauma center or the state medical examiner from a 16-year period (1978–1993). Rates of nonfatal and fatal firearm and stabbing injury were compared for children and adults.
Results: Rates of nonfatal injury were similar (firearm, 34.3 per 100,000 person-years; stabbing, 35.1). However, rates of fatal injury were significantly different (firearm, 21.9; stabbing, 2.7; relative risk: 8.2; 95% confidence interval: 5.4, 12.5). From 1978 to 1993, nonfatal injury rates increased for children (p = 0.0043) and adults (p < 0.0001), while fatal penetrating injury remained constant. The increase in nonfatal injury in children resulted from increased firearm injury rates. In adults, both stabbing and firearm nonfatal injury rates increased.
Conclusions: Nonfatal injury data suggest that nonfatal violence has increased; fatal injury data suggest that violent death rates have remained constant. Injury patterns vary by age, mechanism of trauma, and data source. These results suggest that ED and medical examiner data differ and that both are needed to guide injury prevention programs.     

Interprofessional approaches to creating safe,high quality health care

Three supplementary perspectives are presented arguing that interprofessional collaboration is both necessary and desirable. Nonetheless, there are often too many serious intra-professional barriers and obstacles to interprofessional collaboration to make it successful. Some of these barriers, it is argued and illustrated, are found in the multiple ways in which professional identity is tacitly acquired and embodied in the practitioners' habitual, everyday practice. The paper then explores ways in which reflection, especially Second order reflection, can help to elucidate and overcome these obstacles, as well as increasing professional adaptability and competence.     

Prospects for the control of neglected tropical diseases by mass drug administration

The prospects for the control of neglected tropical diseases, including soil-transmitted helminthiasis, shistosomiasis, lymphatic filariasis, onchocerciasis and trachoma, through mass drug administration, are exemplified by the elimination of the trachoma as a public-health problem in Morocco. In spite of this and other striking successes, mass drug administration programs are faced with major challenges resulting from suboptimal coverage and lack of efficacy. At current suboptimal coverage rates, programs may need prolongation for an extended period, increasing costs and undermining sustainability. Community participation through health education and information appears to be crucial to improve coverage and to achieve sustainability. Implementation of complementary measures, such as vector control, improved hygiene and environmental sanitation, are important to further control transmission and to prevent re-emergence of the infection and, again, may only be achieved effectively through community-based initiatives. To reduce costs and to relieve pressure on the health system, combining neglected tropical disease programs in areas where diseases coexist and integration with existing control programs for malaria, tuberculosis and HIV/AIDS is advocated. The risk of developing drug resistance is of particular concern in view of the lack of alternative drugs, and reduced treatment efficacy due to emerging resistance is evident for the soil-transmitted helminths and onchocerciasis. Given the risk for the development of drug resistance and the need for a high degree of participation, close attention should be paid to the monitoring of the coverage and efficacy of the different program components.     

Bacterial meningitis: an update of new treatment options

The outcome of bacterial meningitis critically depends on the rapid initiation of bactericidal antibiotic therapy and adequate management of septic shock. In community-acquired meningitis, the choice of an optimum initial empirical antibiotic regimen depends on the regional resistance patterns. Pathogens resistant to antibacterials prevail in nosocomial bacterial meningitis. Dexamethasone is recommended as adjunctive therapy for community-acquired meningitis in developed countries. In comatose patients, aggressive measures to lower intracranial pressure <20 mmHg (in particular, external ventriculostomy, osmotherapy and temporary hyperventilation) were effective in a case–control study. Although many experimental approaches were protective in animal models, none of them has been proven effective in patients. Antibiotics, which are bactericidal but do not lyse bacteria, and inhibitors of matrix metalloproteinases or complement factor C5 appear the most promising therapeutic options. At present, vaccination is the most efficient method to reduce disease burden. Palmitoylethanolamide appears promising to enhance the resistance of the brain to infections.     

Imaging choices in occult hip fracture

Background: Hip fracture is a common injury, with an incidence rate of > 250,000 per year in the United States. Diagnosis is particularly important due to the high dependence on the integrity of the hip in the daily life of most people. Objectives: In this article we review the literature focused on hip fracture detection and discuss advantages and limitations of each major imaging modality. Discussion: Plain radiographs are usually sufficient for diagnosis as they are at least 90% sensitive for hip fracture. However, in the 3–4% of Emergency Department (ED) patients having hip X-ray studies who harbor an occult hip fracture, the Emergency Physician must choose among several methods, each with intrinsic limitations, for further evaluation. These methods include computed tomography, scintigraphy, and magnetic resonance imaging. Conclusion: We present an evidence-based algorithm for the evaluation of a patient suspected to have an occult hip fracture in the ED. Also outlined are future directions for research to distinguish more effective techniques for identifying occult hip fractures.     

Systematic Reviews Published in the April 2012 Issue of the Cochrane Library

ABSTRACT

The Cochrane Library of Systematic Reviews is published quarterly as a DVD but monthly online. The April 2012 issue (second DVD for 2012) contains 5045 complete reviews, 2182 protocols for reviews in production, and 17,084 short summaries of systematic reviews published in the general medical literature. In addition, there are citations of 674,000 randomized controlled trials, and 15,400 cited papers in the Cochrane methodology register. The health technology assessment database contains just over 11,000 citations. One hundred and seventeen new reviews have been published in the last 3 months of which 12 have potential relevance for practitioners in pain and palliative medicine. The impact factor of the Cochrane Library stands at 6.186. Readers are encouraged to access the full report for any articles of interest as only a brief commentary is provided.     

Platelets,thrombosis, coagulation,and atherosclerosis

When I first got the invitation to join a medical delegation going to Moldova, I thought for a moment that our destination was the fictional country in the old Marx Brothers movie Duck Soup. On further checking, it turns out that entertaining place was called Freedonia. I now know that Moldova is indeed a real country, bordered on the west by Romania and on the other three sides by the Ukraine. It is a proud country, rich with traditions, and its people are warm, giving, eager to learn ways to improve their healthcare system, and deeply appreciative of our attempts to help them in the task.     

Advance Care Planning

Predictors of patient wishes and influence of family and clinicians are discussed. Research findings on patient decision-making relating to preferences in end-of-life care are described. Advance directives and durable powers of attorney are defined and differentiated. Most patients have not participated in advance care planning and the need for more effective planning is documented. Appropriate times for discussions of such planning are described. Scenarios discussed include terminal cancer, chronic obstructive pulmonary disease, AIDS, stroke, and dementia. Patient satisfaction is discussed, as is a structured process for discussions about patient preferences. Results of patient responses to hypothetical scenarios are described. Invasiveness of interventions, prognosis and other factors that favor or discourage patient preferences for treatment are discussed. Findings resulting from research funded by the Agency for Healthcare Research and Quality (AHRQ) are discussed. This research can help providers offer end-of-life care based on preferences held by the majority of patients under similar circumstances.     

Spiritual Dimensions of Nursing Practice. edited by V. B. Carson

The Cochrane Library of Systematic Reviewsis published quarterly. Issue one for 2004 of the library was published in February 2004. This issue contains 3,329 reviews and protocols of which 1,921 are fully published reviews. The trials database now stands at over 400,000 records with an additional 4,427 one-page summaries of non-Cochrane reviews in the NHS database of reviews of effectiveness (DARE). This version of the library contains the results of an extensive search for RCTs on EMBASE. The latest library contains 84 new reviews, seven are considered relevant to practitioners in pain and palliative care. References are published in the same format as the citation for Cochrane reviews.     

Évaluation,par l’imagerie ultrasonore,du recrutement musculaire,de la force motrice et de la détente verticale du quadriceps après électromyostimulation (cas de 15 étudiants de l’INJS)

The increase of strength seems to be an element of performance in some sports.