广东地区汉族育龄妇女MTHFR基因遗传多态性

目的调查并分析广东地区汉族育龄妇女MTHFR基因多态性分布情况。方法选取2016年1月至2018年7月广东省妇幼保健院行婚检/孕检的育龄妇女13336例,采用Taqman-MGB法测定MTHFR基因C677T、A1298C位点的基因型,并采用卡方检验比较本地人群与其他人群的基因型频率/等位基因频率的分布情况。结果MTHFR基因C667T位点野生型(CC)、杂合突变型(CT)和纯合突变型(TT)分别占51.5%、38.7%和9.8%,突变T基因频率为29.2%;MTHFR基因A1298C位点中,野生型(AA)、杂合突变型(AC)和纯合突变型(CC)分别占59.3%、35.2%和5.5%,突变C基因频率为23.1%。广东地区汉族育龄妇女MTHFR基因C677T、A1298C位点基因型分布和等位基因频率分布与全国人群比较差异均有统计学意义(P<0.01)。广东地区汉族育龄妇女MTHFR基因C677T、A1298C位点的基因频率和等位基因频率与江苏、九江、齐齐哈尔和长沙等地区汉族育龄妇女人群相比差异均有统计学意义(P<0.05)。广东地区汉族育龄妇女MTHFR基因C677T、A1298C位点的等位基因频率与亚洲、东亚、南亚、欧洲、美洲地区人群等位基因频率的分布存在不同程度的差异。结论广东地区人群MTHFR基因的多态性分布与其他地区相比存在明显的差异。     

武汉地区缺血性脑卒中患者MTHFR基因多态性分布分析

目的:探讨武汉地区缺血性脑卒中患者亚甲基四氢叶酸还原酶(MTHFR)基因多态性的分布。方法:选取缺血性脑卒中患者167例为卒中组,健康体检者110例为对照组。通过基因芯片法检测缺血性脑卒中相关的MTHFR基因677位点,并按基因型别分为野生型(C677C)、杂合型(C677T)、纯合型(T677T)。结果:卒中组中野生型22.2%,杂合型43.1%,纯合型34.7%。与对照组相比,野生型显著减少,纯合突变型显著增多,有显著性差异(P0.01)。不同性别脑卒中患者在MTHFR基因分型上差异无统计学意义(P0.05)。结论:武汉地区缺血性脑卒中患者中分布有较多的纯合突变型MTHFR基因。     

影响亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性的因素分析

目的了解影响女性亚甲基四氢叶酸还原酶(MTHFR)C677T、A1298C位点和甲硫氨酸合成酶还原酶(MTRR)A66G位点基因多态性的因素。方法采用横断面调查研究方法,以湖北省内1 902例女性为对象,采集口腔黏膜上皮细胞,提取DNA,用实时荧光定量PCR技术检测MTHFR和MTRR基因,统计分析不同民族MTHFR和MTRR基因多态性的差异,与其他地区人群的MTHFR和MTRR基因多态性进行比较,并分析不同位点基因多态性之间的关联关系。结果 (1)湖北省汉族女性和少数民族女性在MTHFR C677T和MTRR基因多态性构成差异无统计学意义(P>0.05),而MTHFR A1298C位点基因多态性构成差异有统计学意义(P<0.05)。(2)MTHFR C677T位点的纯合突变基因型TT的频率从南到北呈上升趋势,MTHFR A1298C位点的纯合突变基因型CC的频率从南到北呈下降趋势,而MTRR A66G位点基因多态性在不同地区差异不大。(3)MTHFR C677T位点的纯合突变基因型TT的频率在A1298C位点的正常型、杂合型、纯合突变型中分别为15.9%、0.1%、0.0%,差异有统计学意义(P<0.01);MTHFR C677T位点的纯合突变基因型TT的频率在MTRR A66G位点的正常型、杂合型、纯合突变型中分别为9.4%、5.9%、0.7%,差异无统计学意义(P>0.05)。结论 MTHFR A1298C位点基因多态分布存在民族差异;而MTRR C677T、A1298C位点基因多态分布存在地区差异;同一基因不同位点的基因多态性有关联。     

河南省育龄女陛叶酸利用能力现状研究

目的了解河南省育龄女性叶酸利用现状,从而指导其在孕前及孕早期合理补充叶酸,避免由于叶酸代谢障碍导致的各种出生缺陷、自发性流产、妊娠期高血压疾病以及早产的发生,提高出生人口素质。方法采集1093例育龄女性口腔黏膜上皮细胞,进行荧光定量PCR-DNA测序,测定其5,10-亚甲基四氢叶酸还原酶（methylenetetrahydrofolatereductase,MTHFR）C677T、A1298C和甲硫氨酸合成酶还原酶（methioninesynthasereductase,MTRR）A66G位点的基因序列,根据该基因型对叶酸利用能力的影响,得出携带该基因型的女性是否有叶酸利用风险以及风险的等级。结果MTHFRC677T位点野生型CC占18．11％,纯合突变型r丌占36．78％,突变基因T的基因频率为59-33％;MTHFRA1298C位点野生型AA占73．01％,纯合突变型CC占2-38％,突变基因C的基因频率为14．68％;MTRRA66G位点野生型AA占57．09％,纯合突变型GG占6．31％,突变基因G的基因频率24．6l％;双杂合子677CT、1298AC占15-37％;MTHFR两位点与中国人群基因型和等位基因分布差异均有统计学意义（P均〈0．05）,MTRR位点与中国人群基因型和等位基因分布差异均无有统计学意义（P均〉0．05）;叶酸利用能力遗传检测未发现风险的只占26．72％,而中、高度风险各占24．70％、38．97％。结论河南省育龄女性叶酸利用能力现状不容乐观,携带中高度风险基因的人群超过一半。     

缺血性脑卒中患者血浆同型半胱氨酸水平和MTHFR基因多态性分析

目的:探讨缺血性脑卒中患者血浆同型半胱氨酸(HCY)水平和亚甲基四氢叶酸还原酶基因MTHFR多态性的关系。方法:缺血性脑卒中患者181例纳入卒中组,健康人126例纳入对照组。检测2组HCY、叶酸、VitB_(12)水平、MTHFR基因多态性及一般情况,并分析不同基因型的脑卒中患者血浆HCY、叶酸、VitB_(12)水平。结果:卒中组的HCY水平均显著高于对照组(P0.05),而VitB_(12)、叶酸水平均显著低于对照组(P0.05)。卒中组MTHFR基因TT纯合子率及T等位基因频率均显著高于对照组(P0.05),而C/C野生型频率及C等位基因频率均显著低于对照组(P0.05)。卒中组MTHFR基因C/T杂合突变型及T/T纯合突变型HCY水平均显著性高于对照组,T/T纯合突变型叶酸水平显著性低于对照组(P0.05)。卒中组内T/T纯合突变型HCY水平显著高于C/C野生型及C/T杂合突变型,叶酸水平显著低于C/C型和C/T型(P0.05)。结论:缺血性脑卒中患者MTHFR基因677位点的纯合突变可能是血浆HCY水平升高的影响因素,叶酸、VitB_(12)缺乏亦与HCY升高有关联。     

华南地区汉族人群亚甲基四氢叶酸还原酶基因多态性分析

目的了解亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性在华南地区汉族健康人群、原发性高血压患者和高血压合并冠心病患者中的分布情况。方法采用芯片技术对359例人群的MTHFR C677T基因多态性进行检测,并统计男女间基因型频率的差异。结果野生型CC最多见占54.9%,突变型CT占33.1%和TT占12.0%,野生型与突变型在男女人群间的分布差异有统计学意义(P0.05);TT的频率在高血压合并冠心病患者与健康人群和原发性高血压患者中分布差异均有统计学意义(P0.05)。结论 MTHFR C677T的多态性分布在男女人群间有差异,也与原发性高血压患者冠心病的发生相关。     

陕西省延安地区育龄女性MTHFR基因多态性和国内多地区相关报道比较分析

目的分析陕西省延安地区育龄女性叶酸代谢关键酶亚甲基四氢叶酸还原酶(MTHFR)的基因多态性及地区遗传分布特征。方法以延安市第二医疗集团1 508例育龄女性为研究对象,用荧光定量PCR法检测其MTHFR C677T,A1298C基因位点多态性,并和国内多地区相关报道比较分析。结果该地区三种表现型正常型、较弱型和弱型分别占22.5%,50.7%和26.8%。MTHFR C677T位点CC,CT和TT基因频率分别为24.7%,48.6%和26.7%;MTHFRA1298C位点AA,AC和CC基因频率分别为71.0%,26.7%和2.3%,与已报道的南方城市湘潭、武汉、南宁等地区相比,差异均有统计学意义(P0.05)。MTHFR C677T和A1298C等位基因分布情况与其基因型分布情况类似。结论该地区育龄女性MTHFR基因以基因型(MTHFR C677T/A1298C)CT/AA型为主,MTHFR C677TTT纯合突变型呈现北高南低的趋势,其T等位基因频率也呈现随纬度的递减而降低的走向。     

陕西省延安地区育龄女性MTHFR基因多态性和国内多地区相关报道比较分析2)

目的分析陕西省延安地区育龄女性叶酸代谢关键酶亚甲基 四氢叶酸还原酶(MTHFR)的基因多态性及地区遗传分布特征。方法 以延安市第二医疗集团1 508例育龄女性为研究对象,用荧光定量PCR法检测其MTHFR C677T ,A1298C基因位点多态性,并和国内多地区相关报道比较分析。结果”K 该地区三种表现型正常型、较弱型和弱型分别占22.5%,50.7%和26.8%。MTHFR C677T 位点CC,CT和TT基因频率分别为24.7%,48.6%和26.7%;MTHFR A1298C位点AA,AC和CC基 因频率分别为71.0%,26.7%和2.3%,与已报道的南方城市湘潭、武汉、南宁等地区相比 ,差异均有统计学意义( P <0.05)。MTHFR C677T和A1298C等位基因分布情况与其基因型 分布情况类似。结论该地区育龄女性MTHFR基因以基因型(MTHFR C6 77T/A1298C)CT/AA型为主,MTHFR C677T TT纯合突变型呈现北高南低的趋势,其T等位基因 频率也呈现随纬度的递减而降低的走向。     

广西健康育龄妇女亚甲基四氢叶酸还原酶基因多态性与妊娠结局的关系

目的:了解广西健康人群的亚甲基四氢叶酸还原酶C677T位点基因多态性分布情况及其与妊娠结局的关系。方法:选择2003-03/05在广西柳州市妇幼保健院采集200名早孕妇女静脉血3mL,提取全血DNA,聚合酶链反应扩增目的基因片段,用限制性内切酶酶切6～8h后通过聚丙烯酰胺凝胶电泳检测其亚甲基四氢叶酸还原酶C677T位点突变情况;追踪孕妇的妊娠结局,分析结局与突变的联系。结果:所调查200名健康孕妇的血样全部进入结果分析。①亚甲基四氢叶酸还原酶C677T位点多态性检测结果为野生基因型59.5%(119/200),杂合突变型34.0%(68/200),纯合突变型6.5%(13/200)。②3种基因型对应的围产儿平均出生体质量和新生儿评分异常率:野生基因型的平均出生体质量为(3281.1±448.8)g,新生儿评分异常率为2.5%(3/119);杂合突变型分别为(3250.5±519.4)g和4.4%(3/68);纯合突变型分别为(3050.2±662.3)g和7.6%(1/13)。结论:亚甲基四氢叶酸还原酶C677T位点基因多态性分布以野生基因型为主,其次为杂合突变型和纯合突变型。3种基因型对应的围产儿平均出生体质量和新生儿评分异常率均稍有不同,但无明显区别。     

叶酸水平、MTHFR基因C677T多态性与宫颈癌的相关性研究

目的探讨血清叶酸及5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与宫颈癌易感性的相关作用。方法收集82例宫颈癌患者和82例对照者,均为HPV-16阳性,应用聚合酶链反应和限制性片段长度多态性分析(PCR-RFLP)方法检测MTHFR基因C677T多态性,同时采用电化学发光法检测血清叶酸水平,对二者与宫颈癌易感性的相关性进行分析。结果病例组血清叶酸水平(8.63±5.63)μg/L低于对照组(10.84±5.99)μg/L,差异有统计学意义(t=2.43,P=0.016);两组人群的MTHFR基因C677T均为杂合型(CT)频率最高,病例组人群纯合型(TT)高于野生型(CC),与对照组不一致(χ~2=7.529,P=0.023);病例组T等位基因频率高于C等位基因,与对照组不一致(χ~2=5.903,P=0.015)。与野生型(CC)人群相比,纯合型(TT)人群患宫颈癌的危险性显著增高(OR=3.485,95%CI:1.331～9.122),而杂合型(CT)人群未发现显著影响(OR=1.752,95%CI:0.810～3.789);在叶酸充足人群中,MTHFR基因型为纯合型(TT)的人群患宫颈癌的危险为野生型(CC)人群的2.057倍(95%CI:0.455～9.304),而叶酸不充足且MTHFR基因型为纯合型(TT)的人群患宫颈癌的危险则上升为4.354倍(95%CI:1.195～15.865)。结论 MTHFR基因C677T多态性是宫颈癌发生的易感因素,纯合型(TT)可增加宫颈癌发生的危险,尤其在低叶酸水平人群中发生风险最高。     

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.     

Systematic Reviews Published in the January 2011 Issue of The Cochrane Library

ABSTRACT

The Cochrane Library of Systematic Reviews is published quarterly as a DVD and monthly online. The January 2011 issue (first quarterly DVD for 2011) contains 4515 complete reviews, 1985 protocols for reviews in production, and 13,521 one-page summaries of systematic reviews published in the general medical literature. In addition, there are citations of 641,000 randomized controlled trials, and 14,018 cited papers in the Cochrane methodology register. The health technology assessment database contains over 9300 citations. One hundred and seven new reviews have been published in the last 3 months, of which five have potential relevance for practitioners in pain and palliative medicine.     

Prise en charge des entorses externes de cheville : étude clinique préliminaire sur l’efficacité du dispositif Myolux™

Ankle sprains are the most common injury of the musculoskeletal system and are associated with significant societal and economic impacts. It has been proven that classical therapeutic strategies may not be effective in preventing recurrent injuries: the recurrence rates reported in the literature can reach 73%. In order to provide an effective rehabilitation solution, a destabilizing orthosis was developed. This device is equipped with a mechanical articulator reproducing the subtalar mechanics and placed under the heel. In this paper, we present the main results of a preliminary clinical study conducted between 2004 and 2007. All subjects included in this study were treated with the abovementioned orthosis during 10 rehabilitation sessions of 30 minutes each. Data show a relatively low recurrence rate of 12% for the overall population. Moreover, it's of primary importance to note that this satisfactory ratio is largely reduced (3% of recurrence rate) for the 29 patients who performed one training session per month after the 10th initial rehabilitation sessions. Hence, the destabilizing orthosis appears to be an effective solution to prevent recurrent ankle sprains. However, joint protection requires long-term and regular training sessions. This result has motivated the development of a similar device allowing patients to perform training sessions at home. Finally, data obtained in this study are promising awaiting the final results of the comparative, multicentric and independent clinical trials currently managed by the Hospices Civils de Lyon.     

Clinical Trial Updates and Hotline Sessions presented at the European Society of Cardiology Congress 2007

This article provides information and commentaries on trials which were presented at the Hotline and Clinical Trial Update Sessions at the European Society of Cardiology Congress 2007 in Vienna. The key presentations were performed by leading experts in the field with relevant positions in the trials or registries. It is important to note that unpublished reports should be considered as preliminary data, as the analysis may change in the final publications. The comprehensive summaries have been generated from the oral presentation and the webcasts of the European Society of Cardiology and should provide the readers with the most comprehensive information of relevant publications.     

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.     

Balance and Boundaries in Grief Counseling: An Intervention Framework for Volunteer Training

Volunteers or paraprofessional counselors are commonly used to provide supportive care to the bereaved. These counselors generally are trained in basic listening skills, providing a generic, nonspecific approach to intervention that remains to be proven effective. The present paper outlines a framework that provides paraprofessionals with a broader model for intervention with the bereaved. Attention to boundaries as a helper and balance in the grief recovery are central to the model. Interventions are described that provide the paraprofessional counselor with more options for tailoring their counseling strategy to the individual. These include techniques that are presumed to be more specific to the enhancement of grief recovery.     

A new method for the simultaneous analysis of unmodified and modified urinary nucleosides and nucleobases by high performance liquid chromatography

Details are given of a new, rapid and simple pre-fractionation method and an isocratic high performance liquid chromatography system suitable for parallel analysis of nucleosides and nucleobases from urine and other biological fluids. The quantitative recovery and excellent reproducibility of the method is demonstrated by analysis of representative standard RNA catabolites. The advantage of this new method for application to biological samples is discussed.     

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.