结直肠癌组织miR-485-5p，miR-1207-3p和miR-590-3p水平表达与临床病理特征及生存的相关性研究

目的　研究 miR-485-5p,miR-1207-3p和 miR-590-3p在结直肠癌演进过程中的表达变化。方法　选取 2019年 1月～ 2020年 1月承德市中心医院病理科归档资料齐全完整的 84例结直肠癌组织石蜡标本和距离癌组织边缘 5cm的癌旁组织石蜡标本。采用免疫组织化学法及荧光定量 PCR法检测以直肠组织制作的标本 miR-485-5p,miR-1207-3p和 miR-590-3p,分析 miR-485-5p,miR-1207-3p和 miR-590-3p在结直肠癌组织演进过程中的表达变化。结果　癌组织 miR-485-5p(3.25±0.32 fmol/L),miR-1207-3p(1.45±0.14 fmol/L)和 miR-590-3p(2.63±0.26 fmol/L)表达均低于癌旁组织 (7.65±0.76 fmol/L,5.81±0.58 fmol/L,8.95±0.89 fmol/L),差异有统计学意义（ t=48.900,66.970, 62.470,均 P＜ 0.05)。Ⅲ～Ⅳ期、中、低分化、有淋巴结转移、有肝转移患者 miR-485-5p,miR-1207-3p和 miR-590-3p表达分别低于Ⅰ～Ⅱ期、高分化、无淋巴结转移、无肝转移患者,差异有统计学意义（ t/F=21.338～ 52.835, 均 P＜ 0.05）。死亡组患者 miR-485-5p（1.52±0.15 fmol/L）,miR-1207-3p（0.50±0.05 fmol/L）和 miR-590-3p（1.15±0.11 fmol/L）均低于存活组（4.98±0.49 fmol/L,2.40±0.24 fmol/L,4.11±0.41 fmol/L）,差异具有统计学意义（t=27.820,31.370, 28.520,均 P＜ 0.05）。 ROC曲线分析显示,三项联合曲线下面积、敏感度和特异度分别为 0.823,86.30%和 87.32%;miR-485-5p分别为 0.699,85.78%和 86.41%;miR-1207-3p分别为 0.768,85.59%和 71.14%;miR-590-3p分别为 0.719,83.62%和 87.62%,三项联合诊断价值大于单独检测。 miR-485-5p,miR-1207-3p和 miR-590-3p之间相关性分析显示, miR-485-5p与 miR-12073p呈正相关（ r=0.457,P=0.005）;miR-485-5p与 miR-590-3p呈正相关（ r=0.314,P=0.003）;miR-1207-3p与 miR590-3p呈正相关（ r=0.332,P=0.002）。结论　血清 miR-485-5p,miR-1207-3p和 miR-590-3p水平联合检测对诊断结直肠癌、判断恶化程度有一定临床价值,且可能作为结直肠癌患者潜在的预后标志物。     

肾透明细胞癌患者血清miR-193a-3p水平增加及早期诊断价值

目的 检测肾透明细胞癌患者血清中miR-193a-3p的表达水平,探讨其作为肾透明细胞癌分子诊断指标的可能性。方法 收集南京军区南京总医院2010～2014年期间107例住院肾透明细胞癌患者(TNM分期Ⅰ期76例、Ⅱ期16例、Ⅲ期2例、Ⅳ期8例和未知5例)未经治疗前血清样本,实时荧光定量PCR(qRT-PCR)方法检测miR-193a-3p含量,并以107例年龄、性别匹配的非癌健康人作对照。ROC曲线分析血清miR-193a-3p水平对肾透明细胞癌的早期诊断价值。结果 qRT-PCR检测证实,miR-193a-3p在总体患者血清中的含量显著高于对照组(3.294 ± 1.526 vs 1.944±0.600,P=0.000)。TNM Ⅰ期(3.411±1.676 vs 1.944±0.600,P=0.000)、Ⅱ期(2.926±0.927 vs 1.944±0.600,P=0.001)和Ⅳ期患者(2.926±0.894 vs 1.944±0.600,P= 0.000)血清中miR-193a-3p的表达水平均明显高于对照组。用于诊断肾透明细胞癌早期(Ⅰ期)的血清miR-193a-3p ROC曲线下面积(AUCROC)为0.820(95% CI,0.756～0.883),敏感度为80.3%,特异度为93.5%。结论 miR-193a-3p在肾透明细胞癌患者血清中的水平显著升高,并有较高的早期诊断准确性,有望作为该病早期诊断的血清学指标。     

特发性肾病综合征患儿尿液外泌体miR-194-5p水平及其临床价值

目的探讨特发性肾病综合征(idiopathic nephrotic syndrome,INS)患儿尿液外泌体miR-194-5p水平及其作为辅助诊断标志物的临床价值。方法收集101例INS患儿和98例性别、年龄相匹配的健康儿童尿液标本,采用实时荧光定量PCR(qRT-PCR)检测miR-194-5p在尿液外泌体中的含量;ROC曲线、相关性分析等评估其对INS患儿的诊断价值。结果 INS组尿液外泌体miR-194-5p水平明显高于健康人对照组[2.420(0.650,9.515)fmol/L vs 0.360(0.220,0.653)fmol/L,U=1 552,P0.01],且其中44例患者在治疗缓解后明显下降[0.975(0.375,4.358)fmol/L vs 0.320(0.145,0.523)fmol/L,W=708,P0.01];伴有高尿蛋白的INS患儿miR-194-5p水平明显高于伴有低尿蛋白患儿[8.430(7.225,13.070)fmol/L vs 2.130(1.180,3.090)fmol/L,U=0,P0.01];miR-194-5p诊断INS的ROC曲线下面积(AUC~(ROC))为0.843(95%CI:0.789～0.897)。相关性分析显示,INS患儿尿液外泌体miR-194-5p与血清清蛋白(r=-0.300)水平呈负相关,与血清总胆固醇(r=0.278)、24 h尿蛋白(r=0.296)呈正相关(P均0.01)。结论 INS患儿尿液外泌体miR-194-5p含量明显升高,与24 h尿蛋白、血清清蛋白和胆固醇水平密切相关,有望作为辅助诊断儿童INS的非侵入性分子标志物。     

非小细胞肺癌患者血清miR-141及miR-224的表达及其临床意义

目的 探讨miR-141及miR-224在非小细胞肺癌(NSCLC)中的表达及其临床意义。方法 采用RT-PCR检测128例NSCLC患者,60例良性病变患者(良性组)和60例健康体检者(对照组)血清miR-141,miR-224及鳞状细胞癌相关抗原(SCC-Ag)表达水平,分析miR-141及miR-224表达水平与NSCLC临床病理特征的关系。应用ROC曲线评价miR-141,miR-224及SCC-Ag对NSCLC诊断的灵敏度和特异度,Pearson相关分析NSCLC患者血清miR-141与miR-224,SCC-Ag的相关性。结果 NSCLC组血清miR-141,miR-224及SCC-Ag表达水平均明显高于良性组和对照组[miR-141(2^-ΔΔCt):2.56±0.48 vs 1.08±0.24和1.02±0.21; miR-224(2^-ΔΔCt):3.94±0.82 vs 1.42±0.35和1.26±0.30; SCC-Ag(ng/ml):2.75±1.36 vs 0.64±0.47和0.52±0.24,F=8.719～11.573,均P<0.01]。在NSCLC患者中血清miR-141及miR-224表达水平与病理分期、病理分级及淋巴结转移相关(P<0.05)。ROC曲线分析显示,血清miR-141,miR-224及SCC-Ag(ng/ml)诊断NSCLC的最佳截值分别为1.84,2.85,2.03,三项联合诊断NSCLC的AUC(0.913)最大,其敏感度和特异度较好,分别为92.5%和82.7%。Pearson相关分析显示,血清miR-141与miR-224,SCC-Ag呈正相关(r=0.782,0.594,均P<0.01),血清miR-224与SCC-Ag呈正相关(r=0.594,P<0.01)。结论 血清miR-141及miR-224在NSCLC患者中明显上调,且与患者的临床病理特征相关,有望作为诊断NSCLC的新型生物标志物。     

食管鳞状细胞癌患者血清全基因组microRNA测序和分析

目的通过测序、分析食管鳞状细胞癌(ESCC)患者血清全基因组微小核糖核酸(miRNA)表达谱,筛选出表达上调的miRNA,探讨其作为ESCC分子标志物的可能性。方法收集未经治疗的199例ESCC患者血清,同时以107例年龄、性别匹配的健康人血清作对照。用Solexa测序技术对血清miRNA进行测序和表达量测定,用实时荧光定量PCR技术对表达上调的miR-223验证,并与血清CEA含量比较。结果 Solexa测序结果显示,ESCC患者和健康人混合血清小分子RNA中miRNA含量所占比例分别是75.46%和81.44%,22种miRNA在患者血清中表达量是健康人对照的2倍以上;PCR分析证实,miR-223在患者血清中的浓度[M(P25,P75)]显著高于健康人对照[893.8(684.8,1 200.7)fmol/L vs 445.6(347.7,664.0)fmol/L,t=10.03,P<0.01];用于ESCC诊断的miR-223 ROC曲线下面积(AUCROC)为0.84(95%CI,0.79～0.89),明显大于CEA的0.55(95%CI,0.48～0.62),P<0.01;当cut off值为710.2 fmol/L时,miR-223诊断ESCC的敏感性和特异性分别为70%、80%;ESCC患者年龄、性别、病理类型、TNM分期、吸烟史、饮酒史与血清miR-223水平无明显相关性(P>0.05)。结论 ESCC患者血清miRNA表达谱与健康人存在差异,miR-223在患者血清中浓度显著升高,是ESCC潜在的分子标志物。     

血浆miR-328和miR-155在急性冠脉综合征诊断及鉴别诊断中的价值

摘要:目的：研究microRNA-328（miR-328）和microRNA-155（miR-155）在急性冠脉综合征（ACS）患者血浆中的水平及其在ACS诊断和鉴别诊断中的价值。 方法：收集56例ACS患者［其中24例为不稳定心绞痛（UA）,32例为急性心肌梗死（AMI）］和20例体检健康者,分析两组一般临床资料及相关生化指标;用实时荧光定量聚合酶链式反应（qRT-PCR）检测两组研究对象血浆miR-328及miR-155的含量,并分析其与心肌肌钙蛋白T（cTnT）的相关性。 结果：ACS组与健康对照组血浆miR-328为（8.12±3.81 vs 1.00±0.00）,差异有统计学意义（t=7.924,P<0.05）;AMI亚组与UA亚组血浆miR-328含量为（10.69±2.17 vs 4.26±2.06）,差异有统计学意义(t=7.227,P<0.05)。ACS组与健康对照组血浆miR-155含量为（1.00±0.26 vs 1.00±0.00）,AMI亚组与UA亚组血浆miR-155含量为（1.02±0.28 vs 0.96±0.22）,差异均无统计学意义（P>0.05）。血浆miR-328水平与cTnT呈正相关（r=0.434, P<0.05）;ACS患者血浆miR-155水平与cTnT无相关性（r=-0.233,P>0.05)。 结论：miR-328在ACS患者血浆中水平升高,可能作为ACS诊断及鉴别诊断的潜在生物标志物。     

男性不育症患者精浆miR-106b水平变化及意义

摘要：目的：检测男性不育症患者精浆全基因组微小核糖核酸(miRNAs)表达谱,筛选差异表达的miR-106b,探讨其作为男性不育症分子诊断指标的可行性。 方法：收集163例男性不育症患者及126例正常生育男性精浆,分别混合;用Solexa测序技术分别检测弱精症、非梗阻性无精症和正常生育男性的混合精浆中692种miRNAs的表达,用实时荧光定量PCR（qRT-PCR）对表达异常的miR-106b在单个样本中逐一进行验证。 结果：Solexa测序结果显示,19种miRNAs在不育症患者精浆中的表达量与健康男性相比变化＞2倍,miR-106b在弱精症和无精症患者中分别上调了6.89倍和2.61倍。qRT-PCR结果表明,弱精症组miR-106b含量［中位数（四分位数）］为719.35(518.49,1 183.39) fmol/L,与正常生育组的291.35(148.83,421.56)fmol/L比较,明显升高（U=91.00, P<0.0l）;无精症患者miR-106b的含量则明显降低,为60.07(18.38,292.52)）fmol/L（U=195.00, P<0.0l）。ROC曲线分析显示,miR-106b诊断弱精症和无精症的曲线下面积(AUC^ROC)分别为0.844 (95% CI, 0.734~0.954)和0.720 (95% CI,0.575~0.864);鉴别弱精症和无精症的AUC^ROC为0.902 (95% CI,0.822~0.982)。 结论：男性不育症患者精浆miR-106b表达水平与正常生育男性存在明显差异,有望成为男性不育症诊断和鉴别诊断的辅助指标。     

低镁摄入对C57BL/6小鼠肺组织β2受体表达的影响

目的:探讨低镁饮食对小鼠肺组织β2受体(β2AR)表达和β2AR低调节的影响。方法:健康4～6周龄清洁级雌性C57BL/6小鼠96只,体重12±2克,随机分为A、B、C、D组,每组各24只。A、B组予低镁饮食,C、D组予正常镁饮食。B、D组腹腔内注射沙丁胺醇诱导β2受体低调节,A、C组腹腔内注射生理盐水作对照。d1、d21、d34天各组分别随机抽取8只检测血浆Mg2+、红细胞内Mg2+、肺组织β2受体mRNA及蛋白表达。结果:血浆Mg2+、红细胞内Mg2+、肺组织β2ARmRNA及蛋白表达:d1各组间差异无显著性(P>0.05)。d21、d34组间比较:C组显著高于A组(d21:0.95±0.07vs0.73±0.08mmol/L、2.44±0.09vs2.32±0.09mmol/L、0.82±0.10vs0.61±0.04、96.6±7.1vs75.1±4.3fmol/mgprotein;d34:0.94±0.10vs0.69±0.14mmol/L、2.43±0.08vs2.26±0.13mmol/L、0.81±0.08vs0.58±0.06、99.2±7.5vs69.6±7.1fmol/mgprotein)(P均<0.05);D组显著高于B组(d21:0.92±0.09vs0.60±0.10mmol/l、2.46±0.16vs2.13±0.16mmol/L、0.73±0.10vs0.52±0.03、97.4±7.9vs62.3±7.2fmol/mgprotein;d34:0.67±0.10vs0.47±0.08mmol/L、2.07±0.12vs1.89±0.14mmol/L、0.62±0.05vs0.43±0.05、78.3±8.4vs45.1±7.3fmol/mgprotein)(P均<0.05)。结论:细胞内镁不足小鼠肺组织β2AR表达减少;维持一定水平的细胞内镁可抑制激动剂诱导的小鼠肺组织β2AR低调节。     

血清HMGB1及Copeptin检测对脑外伤患者病情严重程度及预后评估临床意义

目的 探讨血清高迁移率族蛋白B1(HMGB1)及和肽素(Copeptin)在脑外伤患者病情严重程度及预后评估中的价值。方法 选取脑外伤患者136例,根据28天预后情况分为存活组(110例)和死亡组(26例),以患者入院时格拉斯哥昏迷量表(GCS)评分分为轻度组(45例)、中度组(53例)和重度组(38例),入院7天内有无感染分为感染组(85例)和非感染组(51例)。比较各组入院第1,3,7天血清HMGB1及Copeptin水平变化。应用受试者工作特征(ROC)曲线分析各时间点血清HMGB1及Copeptin水平对脑外伤患者预后的评估价值。Pearson相关分析脑外伤患者血清HMGB-1,Copeptin水平与GCS评分的相关性。结果 重度组第1,3,7天血清HMGB1及Copeptin水平均明显高于轻度组和中度组(F_HMGB1=4.193,8.274,13.108; F_Copeptin=4.718,5.204,9.263,均P<0.05)。感染组第1,3,7天血清HMGB1及Copeptin水平均明显高于非感染组(F_HMGB1=5.317,12.604,16.182; t_Copeptin=4.986,9.537,15.613,均P<0.05)。死亡组第1,3,7天血清HMGB1及Copeptin水平均明显高于存活组[HMGB1(μg/L):13.62±5.28 vs 5.91±2.15,17.95±7.42 vs 2.85±1.28和23.84±10.37 vs 1.24±0.65,Copeptin(pmol/L):68.37±13.35 vs 32.72±8.14,77.29±17.62 vs 26.43±6.28和84.36±21.28 vs 18.35±4.16,t_HMGB1=13.246,18.705,24.348; t_Copeptin=11.252,13.396,19.254,均P<0.05]。随时间变化,死亡组血清HMGB1及Copeptin水平呈升高趋势(P<0.05),而生存组呈下降趋势(P<0.05)。死亡组入院GCS评分明显低于存活组(4.25±1.06 vs 11.36±2.53,t=9.372,P<0.05)。ROC曲线显示,第3天血清HMGB1[AUC(95%CI):0.913(0.851～0.975)]及Copeptin[AUC(95%CI):0.875(0.814～0.934)]水平预测脑外伤患者死亡的最佳截值取11.46 μg/L和50.28 pmol/L时,其敏感度和特异度最好,分别为91.6%,86.5%和88.5%,83.0%。结论HMGB1及Copeptin水平变化与脑外伤患者的病情严重程度及预后相关,第3天HMGB1及Copeptin最佳截值为11.46 μg/L和50.28 pmol/L的患者预后较差。     

充血性心力衰竭患儿心肌β肾上腺素能受体系统在心室重塑中作用的研究

Objective To study the role of myocardium βadrenoreceptor pathway in ventricu lar remodeling of children with congestive heart failure (CHF).MethodsPlasma concentrations of norepinephrine (NE) and epinephrine (E) were measured b y high performance liquid chromatography electrochemistry detection ( HPLCED) in 18 children with CHF.βadrenergic receptor density (Bmax) of lympho cyte was de termined by³Hdihydroalpneolol (³H-DHA) as ligand, and left ventricle mass index (LVMI) by echocardiogram.ResultsPlasma NE and E levels were significantly increased 〔（520.1±187.3） μg/L and (294.1±178.4）μg/L〕,and the Bmax was decreased 〔（378. 7± 97.2）fmol/10⁶〕 in normal LVMI patients compared with the controls 〔（ 189.3±92.4）μg/L,(94.5±45.1）μg/L,and (568.2±101.8）f mol/10⁶，all P<0.001〕.Also,the Bmax decreased more significantly i n patients with abnormal LVMI than that in normal LVMI patients 〔（268.5± 85.6）fmol/10⁶ vs.(378.7±97.2）fmol/10⁶〕,and that was signific antly negatively correlated with LVMI (r=－0.69，P<0.01).ConclusionsPlasma NE and E levels,as well as Bmax of lymphocytes may be useful parameters t o reflect the severity of heart dysfunction in patients with CHF.The regulation of myocardium βadrenoreceptor pathway is earlier than the patho logic structura l change of left ventricular remodeling.It is sugested that remodeling of LV mig ht be regulated by myocardial βadrenoreceptor pathway.     

Comparison of short-term and long-term protocols for stabilization and preservation of RNA and DNA of Leishmania, Trypanosoma, and Plasmodium

Molecular tools continue to be important in the prevention and control of parasitic diseases. However, using these techniques directly in the field remains a major challenge. Therefore, the preservation of clinical samples collected from endemic field areas for later analysis remains an important preanalytical process. This study aimed at identifying a suitable protocol for stabilization and preservation of RNA and DNA in bioclinical specimens for Trypanosoma, Leishmania, and Plasmodium research. Both spiked and unspiked blood samples were preserved in 7 protocols (different media; storage temperatures). Samples were evaluated for possible degradation of DNA and RNA along the storage duration up to the 10th week. Nucleic acid targets were assessed as follows: (i) Trypanosoma and Plasmodium RNA analysis was done using real-time nucleic acid sequence-based amplification (RT-NASBA) for 18S rRNA and for stage-specific Pfs25 mRNA, respectively; (ii) Trypanosoma DNA assessment analysis was conducted by using a conventional PCR for 18S rDNA; (iii) Leishmania RNA analysis was performed with a quantitative NASBA for 18S rRNA and Leishmania DNA assessment with an RT-PCR for 18S rDNA. Findings suggested that a newly developed L3™ buffer proved to be reliable and suitable for both short- and long-term preservation of parasite nucleic acid material. This buffer is envisaged to be suitable for utilization in field situations where resources are limited.     

Rates and risks of transmission of smallpox and mechanisms of prevention

In 1980, the World Health Organization declared smallpox eradicated from the world; the last known natural case had occurred in Somalia in 1977, and the United States had stopped routinely vaccinating its citizens in 1972. However, with increasing concerns regarding domestic and international terrorism, smallpox has resurfaced as a potential threat to global health. We review the direct and indirect modes of smallpox transmission and how patterns of transmission vary substantially, depending on the severity of circulating disease, vaccination status, environmental and socioeconomic factors, and the setting of an outbreak. We examine mechanisms for controlling outbreaks of disease and preventing further transmission in the event of an outbreak, with an emphasis on smallpox vaccination.     

现代残疾康复理念、政策与社区康复体系研究

本研究分析了当代残疾康复的理念和理论架构,构建了以国际公约、决议和政策、国内法律和政策以及操作性工具3个层次的康复理论体系;运用包容性发展,分析探讨了当代社区康复的体系和特点;就发展康复事业、为残疾人提供全面系统的康复服务提出相关的政策建议。     

我院文职护士管理和培训的实践与体会

目的构建文职护士培训、使用及管理的科学方法。方法通过规范管理、科学施训、作为骨干大胆任用等多种管理方式,使文职护士得到充分的发展。结果文职护士群体成长为医院优秀骨干,首批满3年的文职护士顺利通过续聘考核。结论科学的管理培训是文职护士成长的重要基石,对医院护理管理有着重要作用。     

国内外唇腭裂专科护理发展现状的文献研究及分析

目的了解和分析国内唇腭裂专科护理工作发展的现状。方法检索并分析万方医学网、中国知网、Springer Link及PubMed英文数据库近6年有关唇腭裂手术的围术期护理、患儿的喂养、手术安全管理、围术期疼痛研究以及心理护理的相关文献。结果共检索出国内文献89篇(核心期刊20篇)、国外文献22篇,其中围术期护理38篇、患儿的喂养16篇、手术安全管理10篇、围术期疼痛研究10篇、心理护理15篇。结论与国外文献相比,国内论文总结和回顾性居多,应增加研究探讨性论文,从而促进唇腭裂临床护理工作专科化的发展。     

城乡学童个性行为特征调查

目的探讨农村与城市儿童的个性行为特征。方法将97名农村学龄儿童设为农村组,97名城市学龄儿童设为城市组,采用艾森克个性问卷一儿童版和Achenbach’s 行为量表一儿童版进行评定分析。结果两组学龄儿童艾森克个性问卷各维度评分均无显著性差异（P均〉0．05）,且与全国常模相一致（P均〉0．05）;农村组男学童Achenbach’s行为量表违纪行为、攻击行为及外向型因子分均显著高于城市组,女学童退缩、社交问题因子分均显著高于城市组（P〈0．05或0．01）,其他因子分均无显著性差异（P均〉0．05）。结论农村与城市儿童个性无显著差异,而农村儿童存在较多的行为问题,可能与其所受教养和生活方式有关。     

糖尿病视网膜病变筛查与防治中存在的问题及对策

目的探讨糖尿病视网膜病变(diabetic retinopathy,DR)患者筛查和防治中存在的问题及对策。方法以76例糖尿病DR患者为对象,调查未能早期接受眼科诊治的原因。结果存在问题主要是患者对DR防治知识不了解、血糖控制不理想、内科医生未建议进行专科检查等。结论眼科医护人员应密切与糖尿病专科的联系,尽早对DM患者进行DR健康教育,并开展社区DR防治工作。     

罕见和未知基因型珠蛋白生成障碍性贫血的分析与鉴定

目的对珠蛋白生成障碍性贫血(简称地贫)血液学表型阳性但未检出常见地贫基因型的疑似个体做进一步分子水平检测,以明确诊断。方法收集2015年5月至2018年8月在清远市妇幼保健院就诊的地贫血液学表型阳性但常见地贫基因型检测为阴性的标本96例(包括疑似α-地贫88例和β-地贫8例),分别采用单管多重PCR、DNA测序法、荧光定量PCR和芯片捕获测序法检测罕见和未知缺失型地贫基因。结果从上述疑似α-地贫标本中共检出罕见α-地贫基因型17例,其中泰国缺失型(--^THAI/αα)5例,菲律宾缺失型(--^FIL/αα)2例,α^ΔCD303例,α珠蛋白基因拷贝数增加(ααα^anti3.7或ααα^anti4.2)5例,并且发现2例新的α-地贫突变,即α^ΔCD272-279delAGCTTCGG和CD167-169insT。在8例β-地贫特征个体中检出罕见β-地贫基因型Poly A(A>G)2例,-90(C>T)3例,CD37(TGG>TAG)1例,IVS-I-2(T>A)1例,另外还鉴定出1例新的缺失型β-地贫基因(缺失位置为ch11:5,246,000-5,250,500,缺失长度为4kb左右)。结论对未检出常见地贫突变但血液学表型阳性个体进行深度分析,既可提高地贫基因的检出率,有利于遗传咨询和产前诊断,又可能发现新的地贫突变,丰富了中国人群的地贫基因突变谱。     

头面部血管肉瘤3例报告并文献复习

目的:总结我们对头面部血管肉瘤手术联合放射治疗方法的经验认识。方法:报道3例头面部血管肉瘤病例,并复习相关文献。结果和结论:头面部血管肉瘤是一种少见的、多中心的血管肿瘤,预后差。头面部血管肉瘤的手术治疗常常需要切除较广的范围。放射治疗对头面部血管肉瘤是一种合理治疗,既能使受侵犯的真皮组织和周围皮肤得到进一步治疗,又能保护其下的正常组织。     

History of violence and subjective health of mother and child

Objective: To study the self-reported prevalence of experienced violence among a cohort of women about two years after giving birth, their health during pregnancy, pregnancy outcomes and their experience of their child’s health.

Setting and subjects: In 2011, a total of 657 women participated in phase III of the Childbirth and Health Cohort Study in Icelandic Primary Health Care, 18 to 24 months after delivery. The women had previously participated in phase I around pregnancy week 16 and phase II 5–6 months after delivery. Data were collected by postal questionnaires.

Main outcome measures: Women’s reported history of experienced violence, sociodemographic and obstetric background, self-perceived health, the use of medications and their child’s perceived health.

Results: In phase III, 16% of women reported experiencing violence. These women felt less support from their current partner (p?p?p?p?p?p?=?0.008).

Conclusions: Our study confirms that a history of violence is common among women. A history of violence is associated with various maternal health problems during and after pregnancy, a higher rate of caesarean sections and maternal reports of health problems in their child 18–24 months after birth.

• KEY POINTS

• Violence is a major concern worldwide. Understanding the impact of violence on human health and developing effective preventive measures are important elements of any public health agenda.

• ??The reported prevalence of experiencing violence was 16% among women attending antenatal care in the primary health care setting in Iceland.

• ??Women with a history of violence reported worse health in general during pregnancy and delivered more often by caesarean section, compared to women with no such history.

• ??Mothers with a history of violence also evaluated the general health of their child as worse than women with no such history.

• ??The findings of this study support the importance of recognizing and addressing experienced violence among women in primary care.