妊娠早期和中期唐氏综合征血清筛查的对比研究

目的探讨孕早期和中期唐氏综合征筛查对检出胎儿染色体异常和妊娠不良结局的实用价值。方法应用时间分辨荧光免疫法对3255例孕10-13^＋6周和3518例孕14-20^＋6周妇女进行血清标记物妊娠相关蛋白A（PAPP-A）或甲胎蛋白（AFP）和游离β绒毛膜促性腺激素（free-β-HCG）进行检测，筛查结果应用Multiealc软件计算唐氏综合征风险。唐氏综合征风险切割值为1：250，当其≥1：250时为唐氏高危孕妇，于孕20周以后抽胎儿的脐血进行胎儿核型分析，追踪胎儿和孕妇的情况。结果产前筛查6773侧孕妇，唐氏综合征筛查阳性孕妇352例，假阳性率为5．2％（349／6773）。有218例接受了脐血穿刺产前诊断，占总筛查高危孕妇的52．5％（218／415）。发现胎儿染色体异常34例，异常检出率为15．6％（34／218），其中3例唐氏综合征，1例18-三体，1例XXX体在孕中期筛查中发现，1例唐氏综合征儿在孕早期筛查中漏诊。唐氏筛查高风险度组和低风险度组的妊娠不良结局分别为31．1％和11.6％，差异有显著性（P〈0.05）。结论血清标记物AFP＋free-β-HCG筛查三体综合征较PAPP-A＋free-β-HCG好，唐氏综合征血清筛查是预测不良妊娠结局的有效指标，再结合产前诊断对防止先天缺陷有实用价值。     

孕早期超声检测胎儿NT厚度联合母亲血清PPAP-A、Fβ-hCG水平检测在诊断胎儿唐氏综合征中的价值

目的探讨孕早期采用超声检测胎儿颈部透明软组织(NT)厚度联合母亲血清妊娠相关血浆蛋白A(PAPP-A)、游离β-人绒毛膜促性腺激素(Fβ-hCG)水平检测在诊断胎儿唐氏综合征中的价值。方法对2 823例孕周在10~14周的单胎孕妇,采用超声检测胎儿NT厚度,生化检测母亲血清PAPP-A、Fβ-hCG水平;对胎儿NT厚度,母亲血清PAPP-A、Fβ-hCG水平异常者进一步行产前染色体检查。将2 823例孕妇按检测结果分为阴性组(胎儿唐氏综合征检测阴性)、阳性组(胎儿唐氏综合征检测阳性)与唐氏综合征组(染色体检查确诊胎儿患唐氏综合征),比较3组胎儿NT厚度,母亲血清PAPP-A、Fβ-hCG水平的差异。结果 2 823例孕妇中,胎儿唐氏综合征阳性31例,阳性率为1.10%;31例阳性胎儿确诊唐氏综合征2例,检出率为0.71‰(2/2 823)。与阴性组、阳性组比较,唐氏综合征组孕妇血清PAPP-A水平显著降低(P<0.05)、Fβ-hCG水平显著升高(P<0.05),胎儿NT厚度明显增厚(P<0.05)。结论在孕早期对孕妇采用超声检测胎儿NT厚度联合母亲血清PPAP-A、Fβ-hCG水平检测对诊断胎儿唐氏综合征有着积极的意义,可以减少因疾病给患者带来的身体和心理上的伤害。     

1450例孕中期妇女产前筛查唐氏综合征结果分析

目的探讨孕中期（14-20周）妇女外周血中甲胎蛋白（AFP）和β-人绒毛膜促性腺激素（β-hCG）在胎儿唐氏综合征产前筛查中的作用。方法采用双抗体夹心法，用四甲基联苯胺显色系统，通过标准曲线，得到血清标本中AFP和β-hCG的浓度，结合孕妇年龄、孕周，利用配套软件计算胎儿患唐氏综合征的风险。结果1450例孕妇筛出唐氏综合征高危孕妇47例（3．2％）；筛出13，18-三体高危孕妇15例（1．0％），筛出神经管缺陷高危82例（5．7％）。结论孕妇进行产前筛查唐氏综合征能降低需要进行创伤性产前诊断的孕妇比例，降低唐氏综合征患儿和神经管缺陷的出生率。     

11～13~(+6)孕周唐氏综合征与正常妊娠孕妇血清胎盘生长因子水平对比分析

目的探讨孕妇血清胎盘生长因子(PLGF)在孕早期唐氏综合征筛查的潜在价值。方法选择2011年1月至2013年11月于11~13~(+6)孕周在该院接受孕早期唐氏筛查的600例孕妇作为研究对象,孕育唐氏综合征胎儿孕妇42例纳入病例组,健康孕妇558例纳入对照组。所有孕妇接受孕妇血清妊娠相关蛋白A(PAPP-A)、血清游离β-人绒毛膜促性腺激素(freeβ-hCG)、PLGF检测及B超测定胎儿头臀径(CRL)。结果病例组孕妇PAPP-A和PLGF水平的中位数比对照组低,freeβ-hCG水平的中位数比对照组高,差异均有统计学意义(P0.05)。健康孕妇血清PLGF、PAPP-A水平与孕周呈正相关,血清freeβ-hCG水平与孕周呈负相关。血清PLGF水平与PAPP-A水平呈正相关,与freeβ-hCG水平无相关性。结论 PLGF也可作为孕早期唐氏综合征筛查一项潜在生化标志物,用以筛查该疾病的高风险妊娠。     

孕中期血清学筛查、超声、NIPT联合在胎儿染色体异常筛查中的价值

目的探讨孕中期血清学筛查中位数倍数(MoM)低值、超声、无创产前基因检测(NIPT)联合在胎儿染色体异常筛查中的应用价值。方法选择在我院行孕中期筛查的1068例单胎孕妇中筛选出需行羊水染色体核型分析检测的高危孕妇195例,以羊水染色体核型分析检测结果为金标准,分析血清游离绒毛膜促性腺激素β(β-hCG)和甲胎蛋白(AFP)MoM低值、超声、NIPT对胎儿染色体异常的筛查价值。结果195例孕妇行羊水染色体核型分析共检测出染色体异常18例,195例孕妇经超声筛查显示胎儿可能存在染色体异常77例,经NIPT筛查显示高风险24例,经血清学筛查检出AFP MoM值<0.4者64例,经血清学筛查检出游离β-hCG MoM值<0.25者69例。血清学筛查AFP和游离β-hCG MoM低值、超声、NIPT联合检查对胎儿染色体异常筛查价值明显优于各项单独检查(P<0.05)。结论孕中期血清学筛查AFP和游离β-hCG MoM低值、超声、NIPT联合检查对胎儿染色体异常具有较高的检出率,能够准确反映胎儿异常。     

胎儿颈部半透明组织厚度超声联合血清学检测在孕早期产前筛查中的应用

目的探讨胎儿颈部半透明组织厚度(NT)超声联合血清学指标检测在孕早期胎儿染色体异常产前筛查中的应用价值。方法选择正常产检的1 855例孕妇作为研究对象,孕早期均进行胎儿NT超声检查和血清学指标检查,以随访结果作为"金标准",比较胎儿NT超声、血清学指标检查和两者联合检查对胎儿染色体异常的筛查结果差异。结果 1 855例孕妇无1例脱落。随访结果显示,本组共出现染色体异常9例(21-三体异常4例,18-三体异常3例,13-三体异常2例);胎儿NT超声联合血清学指标检查对孕早期胎儿染色体异常筛查的敏感度、特异度、阳性预测值和阴性预测值均高于单独血清学指标检查、单独胎儿NT超声检查,且联合检查结果与随访结果的一致性更高。结论在孕早期胎儿染色体异常产前筛查中,胎儿NT超声检查联合血清学指标检查可提高筛查效能。     

NT与游离βhCG及PAPP-A联合筛查孕早期唐氏综合征的应用

目的 探讨孕早期利用颈项透明层厚度(NT),联合血清生化标志物游离β绒毛膜促性腺激素(Free-βhCG)、妊娠血浆相关蛋白A(PAPP-A)筛查DS敏感性.方法 收集2009年3月至2010年10月嘉兴学院附属妇幼保健院早孕建卡时自愿参加产前筛查的孕妇(年龄17～45岁),共计11 882例.分别于孕早期(11～13w+6d)测定孕妇血液中Free-βhCG、PAPP-A值,超声测定NT值;对于同一个体,利用风险计算软件,比较在孕早期NT、Free-βhCG、PAPP-A联合筛查和血清学Free-βhCG、PAPP-A筛查对唐氏综合征的检出率和特异性的异同,比较二种筛查方案的敏感性.结果 11 882例孕妇,共发现18例DS,发生率为0.15％.联合筛查和血清学筛查的检出率分别为83.3％、72.2％,特异性为98.4％、97.3％,检出效率为7.18％、3.90％.受试者工作特征曲线(ROC)曲线分析,孕早期联合筛查ROC曲线下的面积值(AUC)为0.975(95％ CCI:0.943,1.007),血清学筛查AUC为0.901(95％ CI:0.789,1.013).结论 孕早期联合筛查比血清学筛查DS有比较高敏感性和特异性,在相同的假阳性率情况下有较高检测率,可有效减少孕妇侵入性穿刺.     

20323例孕早期一站式唐氏筛查结果分析

目的探讨孕早期一站式唐氏筛查模式的临床应用价值及其筛查结果与胎儿染色体异常的关系。方法对2012年1月至2014年9月之间在本院进行孕早期一站式唐氏筛查的20 323例孕妇的产前筛查、产前诊断和妊娠结局进行分析。结果20 323例孕早期一站式筛查孕妇筛出高风险孕妇539例,阳性率为2.65%,高风险孕妇通过产前诊断21-三体综合征胎儿19例、18-三体综合征胎儿5例和其他染色体异常胎儿9例;19 794例筛查低风险孕妇中随访妊娠结局发现4例染色体异常,其中21-三体综合征1例,18-三体综合征1例,其他染色体异常2例。结论孕早期一站式唐氏筛查是产前筛查重要筛查模式,对预测胎儿染色体异常有的临床价值。     

孕早中期1315例母血唐氏综合征产前筛查实验分析

目的:通过对孕母血清标记物指标检测,检出唐氏综合征(DS)患儿及其他异常胎儿,减少先天性缺陷儿的出生。方法:应用时间分辨法荧光免疫检测技术对1315例孕9～20周孕妇外周血AFP、f-β-HCG、uE3、PAPP-A进行二联或三联检测,检测结果应用软件计算出21-三体综合征、神经管缺陷、18-三体综合征等三种先天性缺陷的风险率,高风险孕妇建议行B超、羊水或脐带血培养进行产前诊断,产后随访。结果:产前筛查1315例孕妇,筛查出高危孕妇58人,阳性率4.4%,其中21-三体唐氏高风险48例,18-三体高风险1例,神经管畸形高风险9例。高危孕妇行羊水培养23人,发现异常核型3例。结论:孕早期生化二联、孕中期生化三联指标的联合筛查是产前筛查异常胎儿的有效指标,值得推广应用。     

孕中期孕妇产前筛查结果分析及临床价值

目的探讨孕中期孕妇产前筛查的临床应用价值。方法对2010年1月至2011年7月在商丘市妇幼保健院妇产科进行甲胎蛋白(AFP)、游离β-人绒毛膜促性腺激素(Free-β-hCG)及抑制素A(inhibin-A)三项目产前检查,对高风险率孕妇进行羊水细胞染色体检查。结果 4152例孕中期孕妇产前筛查显示52例(1.25%)为唐氏综合征高风险孕妇,49例(1.18%)为18-三体综合征高风险孕妇,67例(1.61%)为神经管缺陷高风险孕妇。先天缺陷高风险孕妇共168例,产前筛查阳性率达4.05%。羊水细胞染色体核型分析显示11例(6.55%)核型异常。结论 AFP、Free-β-hCG与in-hibin-A三项筛查项目联合可以有效对先天缺陷胎儿进行产前筛查。在筛查过程中,三项检测结果可以相互印证,提高阳性检出率,同时有效降低筛查的假阳性率。     

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.