BRCA1基因单核苷酸多态性与广东汉族女性散发性乳腺癌易感相关性研究

目的探讨BRCA1基因启动子区rs799906位点和编码区rs799917位点单核苷酸多态性(single nucleotide polymorphism,SNP)与广东汉族女性散发性乳腺癌易感性的关系。方法利用Sequenom Mass Array iPLEX GOLD系统对107例散发性乳腺癌患者及93例健康对照者的BRCA1基因两个SNP位点(rs799906,rs799917)进行检测,并对检测结果进行χ2检验和非条件Logistic回归分析。结果 rs799906位点TT、TC和CC三种基因型在病例组和对照组的分布频率有差异(χ2=8.407,P=0.018)。相对TT基因型而言,TC杂合型能增加乳腺癌发生的危险性(OR=2.566;95%CI:1.101～5.983;P<0.05),但等位基因T和C的频率分布无显著差异(χ2=2.169,P=0.141)。rs799917位点CC、CT和TT三种基因型的频率和等位基因C和T的频率在病例组和对照组的分布均无显著性差异(χ2=3.994,P=0.136;χ2=0.903,P=0.342)。结论 BRCA1多态性位点rs799906TC杂合型与散发性乳腺癌发病风险有相关性;而rs799917位点多态性与散发性乳腺癌发病风险无相关性。     

RF6基因多态性与黔北人群非综合征性唇腭裂的相关性研究

目的 探讨黔北地区人群IRF6基因rs2235371和rs2235373 SNP位点的多态性及其与非综合征性唇腭裂的相关性。方法 采用PCR和测序方法对153个对照儿童和123个NSCL/P儿童的IRF6基因中2个SNP位点rs2235371和rs2235373进行扩增和测序;对样本群体进行Hardy-Weinberg平衡分析,比较2组人群的基因型频率、等位基因频率及OR分析;两位点连锁不平衡分析。结果 对照组与病例组人群rs2235371基因型均含有GG、GA和AA型,rs2235373位点均含有CC、CT和TT型。对于2个位点,对照组和病例组均符合Hardy-Weinberg平衡法则(P＞0.05)。2组人群中,rs2235371和rs2235373位点的等位基因和基因型差异均有统计学意义(P＜0.05);rs2235371位点GGvsGA的OR值(95%CI) =1.725(1.025～2.902),GGvsAA的OR值(95%CI) = 2.100(1.109～4.328);rs2235373位点CCvsTT的OR值(95%CI) = 2.263(1.348～5.015),CTvsTT的OR值(95%CI) = 2.061(1.108～2.169);(P＜0.05)。rs2235371和rs2235373位点存在连锁不平衡,GC单倍型是主要的单倍体型,对NSCL/P均有致病风险,OR值(95%CI)= 1.722(1.219～2.431), (P＜0.05)。结论 在黔北地区人群中,IRF6基因 rs2235371和rs2235373位点均具有多态性;rs2235371位点的GG基因型和rs2235373位点的CC、CT基因型与NSCL/P的发生有相关性;rs2235371和rs2235373位点存在连锁不平衡,GC单倍型对NSCL/P有致病风险。     

IL-4启动子-589C/T及IL-4R(rs1801275)多态性与儿童哮喘相关性的Meta分析

目的探讨白细胞介素-4 (IL-4)启动子-589C/T和受体IL-4R (rs1801275)单核苷酸多态性与儿童支气管哮喘的相关性。方法检索CNKI期刊全文数据库、万方医学期刊数据库、维普医药信息资源系统、Pubmed、百度学术、谷歌学术关于IL-4-589C/T多态性和IL-4R (rs1801275)与儿童哮喘发病风险的相关对照研究,检索时限均为从建库至2019年1月。采用Rev Man 5.3软件进行Meta分析,计算合并OR值以及95%CI。结果 IL-4-589C/T纳入13个病例对照研究,哮喘患儿1 561例和对照组1 532例。Meta分析结果显示,5种遗传基因型CT+CC和TT、CC和CT+TT、CC和TT、TT和CT、C和T都可增加儿童支气管哮喘发病风险(CT+CC和TT:OR=1.66,95%CI 2.00～1.32,P0.01; CT+TT和CC:OR=3.8,95%CI 6.00～1.60,P0.01; CC和TT:OR=2.84,95%CI 3.22～2.46,P0.01; CC和CT:OR=5.42,95%CI 6.67～4.16,P0.01; CT和TT:OR=2.88,95%CI 2.11～3.64,P0.01; C和T:OR=14.27,95%CI 11.26～17.28,P0.01)。IL-4R (rs1801275)纳入11个病例对照研究,哮喘患儿1 928例和对照组1 414例。Meta分析结果显示3种遗传基因型AA和AG、AA和GG、A和G都可增加儿童支气管哮喘发病风险(AA和AG:OR=42.46,95%CI 42.58～42.35,P0.01; AA和GG:OR=25.94,95%CI 23.72～28.17,P0.01; A和G:OR=34.45,95%CI 32.25～36.65,P0.01)。结论 IL-4-589C/T和IL-4R (rs1801275)单核苷酸多态性与儿童支气管哮喘易感性存在相关性。     

IRF6基因多态性与黔北人群非综合征性唇腭裂的相关性研究

目的探讨黔北地区人群IRF6基因rs2235371和rs2235373 SNP位点的多态性及其与非综合征性唇腭裂的相关性。方法采用PCR和测序方法对153个对照儿童和123个NSCL/P儿童的IRF6基因中2个SNP位点rs2235371和rs2235373进行扩增和测序;对样本群体进行Hardy-Weinberg平衡分析,比较2组人群的基因型频率、等位基因频率及OR分析;两位点连锁不平衡分析。结果对照组与病例组人群rs2235371基因型均含有GG、GA和AA型,rs2235373位点均含有CC、CT和TT型。对于2个位点,对照组和病例组均符合Hardy-Weinberg平衡法则(P0.05)。2组人群中,rs2235371和rs2235373位点的等位基因和基因型差异均有统计学意义(P0.05);rs2235371位点GGvs GA的OR值(95%CI)=1.725(1.025～2.902),GGvs AA的OR值(95%CI)=2.100(1.109～4.328);rs2235373位点CCvs TT的OR值(95%CI)=2.263(1.348～5.015),CTvs TT的OR值(95%CI)=2.061(1.108～2.169);(P0.05)。rs2235371和rs2235373位点存在连锁不平衡,GC单倍型是主要的单倍体型,对NSCL/P均有致病风险,OR值(95%CI)=1.722(1.219～2.431),(P0.05)。结论在黔北地区人群中,IRF6基因rs2235371和rs2235373位点均具有多态性;rs2235371位点的GG基因型和rs2235373位点的CC、CT基因型与NSCL/P的发生有相关性;rs2235371和rs2235373位点存在连锁不平衡,GC单倍型对NSCL/P有致病风险。     

硒蛋白S基因多态性与布鲁氏菌病遗传易感性的关联性

目的 检测内蒙古包头地区布鲁氏菌病患者硒蛋白S（selenoprotein S,SelS）基因rs28665122、rs34713741位点基因型和等位基因分布频率,探讨SelS基因多态性与本地区布鲁氏菌病患者遗传易感性的关联性。方法 采用一种快速点突变检测技术-等位基因特异性PCR（allele - specific PCR,AS - PCR）技术检测32例慢性期布鲁氏菌病患者和30例健康对照者SelS基因（rs28665122、rs34713741）基因型和等位基因分布频率。结果 布鲁氏菌病患者组与对照组SelS基因rs28665122位点GG、GA、AA基因型及G、A等位基因频率比较无统计学差异（χ2分别为0.203,0.852,均P＞0.05 ）;rs34713741位点CT、CC、TT基因型和C、T等位基因分布频率比较存在统计学差异（χ2分别为9.209,6.580,均P＜0.05）,与C等位基因相比,携带T等位基因者感染布鲁氏菌风险增高3.194倍（OR = 3.194,95%CI:1.489～6.847）,与CC基因型相比,CT和TT基因型者感染布鲁氏菌风险均增高（OR = 3.273,95%CI:0.876～12.223;OR = 4.364,95%CI:1.217～15.641）。结论 本地区布鲁氏菌病与SelS基因rs34713741位点基因多态性有关联,T等位基因可能是其风险易感基因。     

miR-152基因多态性与子痫前期易感性的相关性分析

目的 探讨miR-152基因多态性与子痫前期易感性的相关性.方法 选取联勤保障部队第908医院2017年1月至2019年10月收治的156例子痫前期的孕妇作为病例组(其中轻度子痫前期62例、重度子痫前期94例;晚发型子痫前期56例、早发型子痫前期100例),134例血压正常的孕妇作为对照组.测定上述各组miR-152 rs526487 AA、AG、GG基因型及A、G等位基因频率.分析miR-152 rs526487基因型与子痫前期易感性的关系.结果 病例组miR-152 rs526487 AA基因型、A等位基因比例高于对照组(χ2值分别为58.965、104.957,P<0.05),miR-152 rs526487 AA基因型(OR=11.429,95％CI=5.91～22.78)、A等位基因(OR=2.947,95％CI=2.282～3.898)增加了子痫前期的易感性(P<0.05).重度子痫前期miR-152 rs526487 AA基因型、A等位基因比例高于轻度子痫前期(χ2值分别为48.654、123.365,P<0.05),miR-152 rs526487 AA基因型(OR=13.685,95％C I=4.251～25.698)、A等位基因(OR=2.947、95％C I=1.895～3.941)与子痫前期病情有关(P<0.05).早发型子痫前期m iR-152 rs526487 A A基因型、A等位基因比例高于晚发型子痫前期(χ2值分别为47.547、129.635,P<0.05),m iR-152 rs526487 AA基因型(OR=10.478,95％CI=5.20～23.698)、A等位基因(OR=2.845、95％CI=2.012～3.998)与子痫前期发病时间有关(P<0.05).结论 miR-152 rs526487 AA基因型和A等位基因与子痫前期易感性、病情的严重程度及发病时间有关.     

慢性苯中毒发病风险与XRCC1基因多态性关联的病例对照研究

采集病例组慢性苯中毒(CBP)患者102名、对照组204名人员静脉血,应用PCR探针法和引物延伸SNa Pshot法检测XRCC1 rs25487、rs25489、rs1799782 SNP位点基因型,分析基因多态位点和CBP易感性的关联,以比值比(odds ratio,OR)及其95%可信限(95%confidence interval,95%CI)表示关联强度。结果显示,XRCC1rs25487CT基因型(ORadj=5.146,95%CI=2.441~10.852,χ2=21.098,P0.05)或TT基因型(ORadj=13.985,95%CI=6.440~30.371,χ2=56.316,P0.05)、rs1799782 AA基因型(ORadj=2.012,95%CI=0.926~4.372,χ2=5.100,P0.05)可使CBP发生风险增高,未发现XRCC1 rs25489位点与CBP发生的关联。提示XRCC1 rs25487 CT或TT基因型、rs1799782 AA基因型多态可能作为CPB发病危险性增加的生物学标志之一。     

白细胞介素-6受体基因多态性与汉族儿童哮喘易感性的相关性

目的检测白细胞介素-6受体(IL-6R)基因多态性与汉族儿童发生支气管哮喘易感性的关系。方法选取2014-2015年淄博市中西医结合医院儿科住院治疗的187例汉族支气管哮喘患儿为支气管哮喘组,同时选取在淄博市中西医结合医院体检的187例汉族健康儿童为对照组。两组儿童的年龄、性别、一般健康状况等基本资料比较差异均无统计学意义(均P0.05)。采用质谱单核苷酸多态性(SNP)技术,对两组汉族儿童的IL-6R基因进行分析。结果两组IL-6R基因位点的分布符合Hardy-Weinburg平衡定律。两组IL-6R基因rs4845374位点的基因型与等位基因相比较,差异无统计学意义(χ~2=3.691,P=0.132和χ~2=4.212,P=0.092)。两组IL-6R基因rs12083537位点的基因型与等位基因相比较,差异均有统计学意义(χ~2=7.149,P=0.029和χ~2=9.560,P=0.003)。结论 IL-6R基因rs4845374位点与儿童支气管哮喘无相关性,IL-6R基因rs12083537位点多态性与儿童支气管哮喘有相关性。     

MTHFR基因多态性与台州地区儿童哮喘的相关性研究

目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C位点多态性与台州地区儿童哮喘发生的相关性。方法 采用荧光定量PCR技术检测122例哮喘儿童和100例健康儿童MTHFR C677T和A1298C位点的多态性,比较其在2组儿童中的基因型及等位基因频率的分布差异。结果 哮喘组儿童MTHFR基因C677T位点3种基因型CC、CT、TT的频率分别为23. 8%、39. 3%和36. 9%,与对照组相比差异有统计学意义(χ2=7. 356,P 0. 05);哮喘组T等位基因频率(56. 6%)显著高于对照组(43. 0%),其相对于C等位基因的患病危险度(OR)为1. 315 (95%CI:1. 084～1. 597); A1298C位点3种基因型AA、AC、CC的频率分别为63. 9%、32. 0%和4. 1%,C等位基因频率为20. 1%,与对照组相比差异均无统计学意义(P 0. 05)。结论 MTHFR基因1298位点多态性与台州地区儿童哮喘发生无相关性,677位点C→T变异可能增加本地区儿童发生支气管哮喘的风险。     

维生素D水平和TLR3基因多态性与儿童肺炎支原体感染相关哮喘的关联性

目的 探究维生素D水平和Toll样受体3(TLR3)单核苷酸多态性(SNPs)与儿童肺炎支原体(MP)感染相关哮喘的关系。方法 选取2018年6月-2020年6月于承德医学院附属医院接受治疗的住院哮喘患儿138例为病例组,根据血浆肺炎支原体抗体(MP-IgM)检测结果分为MP哮喘组(n=77)和非MP哮喘组(n=61),另选取同期体检儿童75名为对照组,比较各组临床资料、实验室指标水平和TLR3基因rs3775290和rs3775291位点的基因多态性。结果 三组维生素D、CD_3⁺和CD_4+和CD_4⁺/CD_8+/CD_8⁺水平比较,MP哮喘组<非MP哮喘组<对照组(P<0.05);免疫球蛋白(Ig)A、IgM和IgG水平比较,对照组<非MP哮喘组2=0.668,P=0.716;χ2=0.668,P=0.716;χ²=0.029,P=0.864);三组TLR3基因rs3775290位点基因型分布与等位基因频率比较,差异均无统计学意义。Logistic回归分析结果显示,维生素D水平与儿童MP感染相关哮喘的发病具有相关性。结论 维生素D水平与儿童MP感染相关哮喘的发病相关,TLR3基因中的rs3775291位点携带G等位基因会增加哮喘的发生风险,但与MP感染相关哮喘的发病无关联性。     

长春新碱过量引起严重毒副反应1例的护理体会

报道1例霍奇金淋巴瘤患者因误用长春新碱（VCR）10mg一次性静脉推注后治疗护理情况。其出现间断性神志恍惚、眼睑闭合不全、言语不清、口腔黏膜糜烂、全身疼痛、麻痹性肠梗阻、尿潴留、手足麻木等症状,经积极解救,禁食,持续胃肠减压、胃管内注入麻油、开塞露、生理盐水灌肠,合理应用肠外营养,注重疼痛、心理护理,做好口腔、肛周护理,预防感染加重,患者病情得到控制好转出院。     

Correlates of stages of change of smoking among inhabitants of deprived neighbourhoods

BACKGROUND: This study examines the prevalence and correlates of stages of change of smoking, in terms of psychosocial, structural and sociodemographic factors, among inhabitants of deprived neighbourhoods. METHODS: Cross-sectional data were obtained from a survey on health related behaviour. Subjects were 2009 current and former smokers, aged 20-46, living in deprived neighbourhoods in Rotterdam, the second largest city in the Netherlands. Three groups of smokers were formed according to the stages of change-definitions of the Transtheoretical Model: smokers not planning to quit (precontemplators), smokers planning to quit (contemplators/preparators) and former smokers (actors/maintainers). Smokers planning to quit and smokers not planning to quit were compared regarding psychosocial factors (attitude, social norm, self-efficacy), structural factors (neighbourhood problems, material deprivation, financial problems, employment status) and sociodemographic factors (age, gender, marital status, cultural background, educational level). Former smokers were compared with smokers planning to quit regarding structural and sociodemographic factors. Logistic regression was used to assess correlates of stages of change. RESULTS: Smokers planning to quit (prevalence = 19%) reported a more positive attitude, stronger social norms and higher self-efficacy expectations in quitting smoking than smokers not planning to quit (prevalence = 57%). Smokers planning to quit less often were Dutch-born, more often had attended higher vocational schooling or university and more often reported experiencing two or more neighbourhood problems compared to smokers not planning to quit. Former smokers (prevalence = 24%) were older, more often Dutch-born, married, employed and higher educated, compared to smokers planning to quit. Furthermore, former smokers less often reported material deprivation and financial problems than smokers planning to quit. CONCLUSION: Among people living in deprived neighbourhoods, different factors correlate with different stages of change of smoking. Implications for health promotion are discussed.     

两种不同肌瘤剔除术治疗子宫肌瘤的临床疗效比较

目的:比较腹腔镜子宫肌瘤剔除术与腹式子宫肌瘤剔除术的临床疗效。方法:回顾分析63例腹腔镜子宫肌瘤剔除术与61例腹式子宫肌瘤剔除术的临床资料,比较2种手术方式的手术时间、术中出血量、肛门排气时间、使用抗生素时间、术后感染率、体温恢复正常时间、住院时间等情况。结果:两组患者接受子宫肌瘤剔除术顺利完成,腹腔镜组手术时间长于开腹组(P0.05),腹腔镜组术中出血量及剔除肌瘤个数均少于开腹组(P0.05),术后腹腔镜组体温恢复正常时间、肛门排气时间、抗生素使用及住院时间均短于开腹组,两组患者最多随访6个月,腹腔镜组平均康复时间较开腹组短(P0.05),两组随访B超均未发现明显肌瘤结节。结论:腹腔镜子宫肌瘤剔除术损伤小,恢复快,住院时间短,是值得推广的微创手术。     

Choice of measures of vaccination and estimates of risk of pediatric pertussis

BackgroundVaccination uptake at the individual level can be assessed in a variety of ways, including traditional measures of being up-to-date (UTD), measures of UTD that consider dose timing, like age-appropriate vaccination, and risk reduction from individual doses. This analysis compared methods of operationalizing vaccination uptake and corresponding risk of pertussis infection.MethodsCity-wide case-control study of children in Philadelphia aged 3 months through 6 years, between 2001 and 2013. Multiple logistic regression was used to isolate the independent effects of each measure of vaccination uptake and the corresponding relative odds of pertussis.ResultsBeing UTD on vaccinations was associated with a 52% reduction in risk of pertussis (OR 0.48, 95% CI: 0.34, 0.69). Evaluation of delayed receipt of vaccine versus on-time UTD yielded similar results. There was a decrease in risk of pertussis for each additional dose received with the greatest reduction in pertussis infection observed from the first (OR 0.48, 95% CI: 0.28, 0.83) and second dose (OR 0.17, 95% CI: 0.08, 0.34). Additional doses conferred minimal additional protection in this age group.ConclusionExamining vaccination status by individual doses may offer improved predictive capacity for identifying children at risk for pertussis infection compared to the traditional UTD measure.     

上海市某医院骨科平均住院日影响因素分析

对上海市某医院2003年-2007年骨科出院病人的住院日描述性分析．2003年-2007年骨科的床位利用指数与平均住院日相关性分析．2003年-2007年骨科床位与医护比例分析．2007年骨科前10大病种平均住院目影响因素分别进行单因素相关性分析和多因素逐步回归分析（STATA软件）。通过对骨科10大病种住院日影响因素分析,术前等待天数、手术类型、是否输血分别对10个、9个和8个病种的住院目有影响。输血因素和手术类型是医院不可控、由病人的病情决定的,术前等待天数是管理因素,是最值得医院重视的影响因素。     

性发育异常发病机制的研究进展

正常的性腺分化可分为3个过程：原始性腺形成、性别决定和卵巢/睾丸发育。在任一环节中,基因表达或调控发生异常均有可能导致性发育异常疾病的发生。性发育异常是指染色体、性腺和解剖性别不典型。随着分子生物学技术的发展,不断地发现新的基因或信号通路参与性腺分化和发育,如SRY、SF1、WT1、Sox9等基因与睾丸发育密切相关,Wnt/Rspo1/B连环蛋白通路、Dax1、Foxl2等基因在卵巢分化中发挥着重要作用,一些非编码RNA和转化生长因子也有重要的调节功能,且睾丸和卵巢发育均为主动过程,即使在出生后因某些基因的改变两者间也可出现横向分化。这些为揭示性分化异常的发病机制提供了可能。     

尘肺病患者145例死因调查

目的分析汉中市尘肺病的发生、发展和死亡原因，以提高尘肺病患者的生存质量。方法对145例尘肺病患者的死因进行回顾性分析，计算其平均发病年龄、死亡年龄及患尘肺病后的存活年限。结果矽肺的平均发病年龄和死亡年龄均早于煤工尘肺和石棉肺，尘肺病的主要死因为患肺部疾患，患尘肺病后的平均存活年限为12a。结论加强职业健康体检工作，对尘肺病人做到早发现早治疗和预防并发症的发生。     

One-year stability of the Measure of Processes of Care

BACKGROUND: The Measure of Processes of Care (MPOC) is a 56-item self-administered measure designed to examine what parents of a child with a chronic health problem think of the services they and their child receive, and to measure the extent to which these services are family-centred. Reliability and validity of the MPOC were established in prior studies. The aim of the present study was to assess the 1-year stability of the MPOC to justify its use as an evaluative tool. METHODS: Nine paediatric rehabilitation centres in the Netherlands participated in this short longitudinal survey study. Subjects were 205 parents (response rate 74.8%) of children aged 1-18 years who received care in one of the participating paediatric rehabilitation centres. All subjects filled out two MPOCs with a 1-year interval. RESULTS: All correlations between the scale scores of the MPOC at the first and second administration were relatively high and significant (range: 0.443-0.609, all P < 0.001), demonstrating high inter-individual stability. However, all mean scale scores, except for Providing General Information, significantly reduced after 1 year. CONCLUSIONS: The MPOC has a moderate 1-year stability. However, because of its tendency to score lower when repeated after 1 year, its use as an evaluative follow-up instrument to assess the effectiveness of a programme intervention is restricted.     

儿童皮质发育畸形的MRI诊断

目的探讨儿童皮质发育畸形(MCD)的MRI表现特点,为MCD的早期诊断提供依据。 方法选择2010年1月至2012年12月在四川省医学科学院·四川省人民医院放射科经MRI检查确诊为MCD的44例患儿为研究对象。回顾性分析及总结其MRI影像学特征。本研究遵循的程序符合四川省医学科学院·四川省人民医院人体试验委员会制定的伦理学标准,得到该委员会批准,征得受试对象及其监护人知情同意,并与监护人签署临床研究知情同意书。 结果本组44例经MRI确诊为MCD患儿中,巨脑回-无脑回为17例,多小脑回为14例,灰质异位为9例,脑裂畸形为4例。MCD的MRI特点中,巨脑回表现为脑回增宽、皮质增厚及白质变薄;无脑回表现为正常脑沟、脑回消失,皮质增厚及白质变薄;多小脑回表现为脑回增多、细小;灰质异位表现为皮质下及侧脑室周围深部白质区结节状、团块状或带状病灶,信号与灰质信号相同;脑裂畸形表现为从侧脑室到脑表面贯穿大脑半球的裂隙,表面覆盖灰质。 结论MRI是诊断儿童MCD的可靠影像学方法。     

244株真菌鉴定结果分析

目的 了解某院2000～2001年各类真菌的检出率。方法 用酵母样真菌同化试验编码鉴定板TH-15进行编码鉴定。结果 真菌分离率为8．85％；244株真菌分为10种，其中以白色念珠菌和热带念珠菌较高，分别占真菌总数的75．41％和11．47％；检出真菌的主要标本是痰和阴道分泌物。结论 及时进行真菌培养，有利于合理使用抗菌药物和控制真菌感染。