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1.
目的 研究表皮生长因子(epidermal growth factor,EGF)5'非编码区rs4444903单核苷酸多态性(SNP)与儿童肾母细胞瘤易感性及病理分期的关系.方法 采用病例对照研究,收集临床病理确诊的儿童肾母细胞瘤外周血96例,及正常同龄儿童外周血200例,应用聚合酶链反应-连接酶特异检测技术(PCR-LDR)分析两组儿童外周血DNA中EGF rs444490位点的多态性,比较不同基因型与前列腺癌易感性及病理分期的关系.结果 Logistic回归分析显示,儿童携带EGF rs4444903 GG和GG+ GA基因型能增加罹患肾母细胞瘤的风险(OR =2.45,95%CI=1.12~4.87,OR=1.25,95% CI=1.08~ 2.34,P<0.05),与患儿病理分期呈正相关(Ⅲ-Ⅴ期vs Ⅰ-Ⅱ期:OR =2.28,95% CI=1.30 ~4.48,P<0.01),并且GG/GA携带者其EGF血清表达亦增高(P<0.05).结论 EGFrs444490位点多态性与肾母细胞瘤易感性及其预后相关,携带GG/GA基因型的肾母细胞瘤患儿预后较差.  相似文献   

2.
目的探讨内皮型一氧化氮合酶(eNOS)基因21个单核苷酸多态性位点(SNP)与习惯性流产(RSA)的相关性。方法选择eNOS基因21个位点,通过基质辅助激光解吸电离飞行时间质谱技术对227例RSA患者和232例健康对照进行了基因分型及数据统计分析。结果 RSA组及对照组eNOS基因8个位点基因频率分布符合H-W平衡。3个Block处于强连锁不平衡(D’0.9)。RSA组rs11771443位点CC基因型[χ2=5.107,P=0.004,OR(95%CI)=1.710(1.071,2.731)]及C等位基因频率[χ2=7.076,P=0.008,OR(95%CI)=0.682(0.514,0.905)]显著高于对照组;RSA组rs1799983位点GG基因型[χ2=10.587,P=0.001,OR(95%CI)=0.487(0.314,0.754)]及G等位基因频率(χ2=6.250,P=0.012,OR(95%CI)=0.615(0.420,0.902)]显著高于对照组;对照组中T-T-G单倍型频率显著高于RSA组(P=0.015)。结论eNOS基因rs11771443(Promoter)和rs1799983(Exon 7)位点多态性可能与RSA有关,携带有rs11771443多态性位点C等位基因与rs1799983多态性位点G等位基因的个体可能更容易患RSA;携带有T-T-G单倍型可能是RSA的保护因素。  相似文献   

3.
目的 探讨肿瘤坏死因子α(TNF-α)和白细胞介素6(IL-6)基因单核苷酸多态性(SNP)与胃腺癌合并或未合并幽门螺杆菌(Hp)感染的关系.方法 采用基因芯片技术检测130例胃腺癌患者(胃癌组)和142例健康对照人群(对照组)中TNF-α-238G/A,-308G/A和IL-6-597G/A,-174G/C,-572G/C位点多态性.同时应用酶联免疫吸附试验(ELISA)测定两组血清中Hp-IgG/IgM/IgA型抗体浓度.结果 胃癌组Hp的感染阳性率明显高于对照组(P<0.01, 相对危险度[OR]=2.59).TNF-α-238GA基因型和A等位基因频率,胃癌组明显高于对照组(P<0.01,OR=2.44 ;P<0.01,OR=2.13);Hp阳性胃癌组明显高于Hp阴性胃癌(P<0.05,OR=4.53 ;P<0.01,OR=3.52);低分化胃癌组显著高于高分化胃癌组(P<0.05,OR=4.16).胃癌组IL-6-572CC基因型频率明显低于对照组(P<0.01,OR=0.17).未见TNF-α和IL-6其他位点的SNP与胃癌组或Hp阳性胃癌组有任何相关性.结论 TNF-238GA基因型及其等位基因A与胃腺癌或感染Hp的胃腺癌易感性相关,而IL-6-572CC基因型则能降低胃腺癌易感性.  相似文献   

4.
5.
[目的]探讨白介素-16(IL-16)基因多态性与膝关节原发性骨性关节炎(OA)的易感关联.[方法]采用病例-对照研究,纳入95例中国汉族膝OA患者和95例年龄、性别匹配的健康对照者.用聚合酶链反应和限制性片段长度多态性等方法筛查IL-16基因的三个单核苷酸多态性(SNP)位点,并测序验证酶切结果.进行拟和优度x2检验、H-W平衡检验、连锁不平衡分析、单个位点和单倍型的非条件Logistic回归,分析IL-16基因多态性与膝OA的易感关联.[结果]三个SNP位点均符合H-W平衡.显性遗传模式非条件Logistic回归显示,rs11556218位点中,T/G基因型对膝OA可能有保护作用(OR=0.40,95%CI=0.21-0.73,P=0.008);rs4072111中,C/T可能增加发病风险(OR=1.98,95%CI=1.08-3.65,P=0.036).连锁不平衡分析提示rs11556218与rs4778889存在连锁不平衡(D'=0.625,r2=0.217),单倍型TTT可能增加发病风险(OR=2.42,95%CI=1.15-5.10,P=0.021),GCC可能减低发病风险(OR=0.43,95%CI=0.19-0.98,P=0.045).[结论]中国汉族人群中,IL-16基因的rs11556218、rs4072111、rs4778889位点的多态性可能与膝OA易感性相关.  相似文献   

6.
目的 探讨白细胞介素18(IL-18)基因启动子区-607C/A和-137G/C位点的单核苷酸多态性(SNP)与慢性丙型肝炎患者干扰素(IFN)疗效间的关系.方法 选取2005年9月23日至2012年8月20日山西医科大学第一医院感染科收治的199例慢性丙型肝炎患者,另选取180名健康人群作为对照.199例患者均采用普通IFNα或聚乙二醇干扰素α(PegIFNα)联合利巴韦林治疗.应用聚合酶链反应(PCR)及限制性片段长度多态性(RFLP)方法检测2组人群IL-18基因启动子区-607 C/A及-137G/C位点的基因型,采用x2检验分析-607C/A和-137G/C位点的基因型和等位基因分布频率,及以上两个位点的SNP与IFN治疗后获得持续病毒学应答(SVR)之间的关系.结果 慢性丙型肝炎组中IL-18基因启动子区-137GG基因型和-137G等位基因的分布频率显著高于健康对照组(x2 =6.612和6.476,P=0.010和0.011),而-137GC基因型分布频率低于健康对照组(x2=5.548,P=0.019).-607位点为AA基因型的慢性丙型肝炎患者经IFN治疗后获得SVR率显著高于CA和CC基因型患者(x2 =4.195和5.230,P=0.041和0.022),且-607位点为A等位基因的患者获得SVR率显著高于C等位基因的患者(x2 =5.903,P =0.015).-137位点为GC基因型的患者获得SVR率显著高于GG基因型患者(x2 =5.869,P=0.015),且-137位点为C等位基因的患者获得SVR率显著高于G等位基因患者(x2=3.885,P=0.049).结论 IL-18基因启动子区-137位点G等位基因可能与HCV的遗传易感性有关.-607AA和-137GC基因型患者容易获得SVR,-607位点A等位基因及-137位点C等位基因有助于慢性丙型肝炎患者经IFN抗病毒治疗后获得SVR.  相似文献   

7.
目的:研究雌激素受体α基因(ESR1)rs2077647和rs6932902位点多态性与中国东北地区儿童尿道下裂遗传易感性之间的关联。方法:选取尿道下裂组儿童95例,年龄(3.2±0.6)岁;对照组儿童105例,年龄(3.1±0.7)岁。采用PCR和基因测序检测所有研究对象ESR1基因rs2077647和rs6932902位点的基因型,进行病例对照研究。结果:经PCR和基因测序检测,尿道下裂组和正常对照组rs2077647和rs6932902位点基因型及等位基因分布频率,差异有统计学意义(χ~2=8.552,χ~2=16.251,P0.05);尿道下裂组rs2077647位点单核苷酸多态性的C等位基因比例显著高于正常对照组(51.4%vs 35.8%),差异有统计学意义[OR=1.410(1.130~1.759),P0.05];尿道下裂组rs6932902位点单核苷酸多态性的G等位基因比例明显低于正常对照组(49.5%vs68.1%),差异有统计学意义[OR=2.263(1.503~3.408),P0.01]。尿道下裂组T-A单体型比例显著低于正常对照组(11.93% vs 16.93,P0.05),而C-G单体型显著高于正常对照组(7.06%vs 2.42%,P0.05)。结论:ESR1 rs2077647和rs6932902 2个位点与儿童尿道下裂易感性相关,其构成的单体型也与尿道下裂易感性相关。  相似文献   

8.
目的 研究CD31基因单核苷酸多态性及血清水平与肝癌的相关性.方法 选取190例肝癌患者和210例健康对照者为研究对象,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)技术对CD31基因Leu125Val、Asn563Ser和Gly670Arg单核苷酸多态性进行基因分型,同时采用酶联免疫吸附试验检测血清CD31水平.结果 肝癌组和对照组的CD31基因Asn563Ser和Gly670Arg多态性比较,差异无统计学意义(x2=0.491,P>0.05),而CD31基因Leu125Val多态性比较差异有统计学意义(x2=10.988,P<0.05),等位基因频率的相对风险分析发现,Val等位基因携带者患肝癌的风险是Leu等位基因的1.583倍(OR=1.583,95% CI,1.197 ~2.093,P=0.001);携带Val等位基因的肝癌患者血清CD31水平显著高于不携带者(x2=10.408,P<0.05).联合基因型分析显示,CD31基因Leu125Val、Asn563Ser和Gly670Arg单核苷酸多态性存在着强烈的连锁不平衡,与对照组比较,Val-Ser-Arg单倍型携带者显著增加肝癌的发病风险(OR=1.496,95% CI:1.095 ~2.046,P=0.011). 结论 CD31基因Leu125Va1多态性和Val-Ser-Arg单倍型与肝癌的发病具有相关性,其中Val等位基因可能是肝癌的遗传易感基因,携带Val等位基因的个体可能通过促进CD31的高度表达进而增加肝癌的发病风险.  相似文献   

9.
目的 分析慢性丙型肝炎病毒(HCV)感染与Toll样受体7(TLR7)和Toll样受体9(TLR9)单核苷酸多态性(SNP)的相关性.方法 选择2011年1月至2012年5月武汉大学人民医院150例慢性丙型肝炎(CHC)患者及同期体检的168名健康对照者.采用Sanger测序法检测TLR7IVS2-151(rs179009)基因型,应用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法检测TLR9T-1486C(rs187084)基因型.采用SPSS 15.0软件进行统计学分析,对基因型进行Hardy-Weinberg平衡吻合度检验.结果 TLR7 IVS2-151G频率在男性CHC患者中高于对照组男性(41.4%∶21.6%,x2=7.250,P=0.007,OR=0.389,95% CI:0.194 ~0.781);TLR7 IVS2-151A的频率在女性CHC患者中显著高于对照组女性(76.9%∶63.1%,x2=7.202,P=0.007, OR=1.942,95% CI:1.192 ~3.164).TLR9 T-1486C (rs187084)位点不同基因型和等位基因在CHC组和健康对照组间的分布频率差异均无统计学意义(P>0.05).结论 TLR7 IVS2-151 (rs179009)位点与HCV感染存在相关性,其可能参与了CHC的发病.  相似文献   

10.
【摘要】 目的:探讨白介素17受体C(IL-17RC)基因单核苷酸多态性与中国汉族人群青少年特发性脊柱侧凸(adolescent idiopathic scoliosis,AIS)易感性之间的相关性。方法:收集529例AIS女性患者及512例正常同龄女性青少年的静脉血标本,采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法鉴定和统计两组人群IL-17RC基因rs708567和rs279545多态性位点的基因型及等位基因分布频率;比较两组间不同多态性位点各基因型及等位基因分布频率的差异。结果:研究Power值(81%)大于80%,AIS患者组及正常对照组各多态性位点的基因型分布均符合Hardy-Weinberg遗传平衡定律。AIS组rs708567多态性位点GG基因型和G等位基因的分布频率显著高于对照组GG基因型(90.17% vs. 85.55%,P=0.023)和G等位基因(95.1% vs. 92.8%,P=0.028)的分布频率;携带GG基因型青少年中AIS的发病率约为携带AG基因型青少年的1.5倍(OR值=1.55;95% CI:1.45~3.11)。rs279545多态性位点各基因型及等位基因的分布频率在两组间均无统计学差异。结论:中国汉族人群中IL-17RC基因单核苷酸多态性与AIS的发生相关。  相似文献   

11.
AIMS: To understand their possible importance in long- and short-term control of continence, some properties of the striated muscles of the urethra and pelvic floor (levator ani) of dogs and sheep were investigated, especially fiber types and contractile characteristics. MATERIALS AND METHODS: Striated muscles of urethra and levator ani of 29 male and 6 female dogs and 11 male and 6 female sheep were removed and cut into strips. Some strips were frozen and stained for ATPase at pH 9.4 and 4.3 for fiber typing; others were set up in an organ bath to study contractile responses to nerve stimulation. RESULTS: All muscles contained both type I (slow) and type II fibers, ranging from 97% type II in female greyhound urethra to 60% in female sheep levator ani. For each muscle, there were fewer type II muscles in sheep than in dog. The diameters of the urethral fibers were about 60% of the levator ani in dogs and 34% in sheep. Contraction of the urethral muscle was faster than for levator ani and declined to about 80% of the peak, 500 msec after the beginning of stimulation at 20 Hz. The levator ani contraction rose to a steady level as long as stimulation continued. CONCLUSIONS: Both the levator ani and urethral striated muscles contain slow and fast fiber types. The levator ani muscles are capable of sustained contraction with rapid onset which will produce long-term closure of the urethra. The circular urethral muscle contraction was faster but less well maintained.  相似文献   

12.
The extent to which exchange and reutilization processes of mineral tracers affect skeletal mineral accretion and resorption measurements was evaluated by comparing the rates of appearance and disappearance of85Sr and14C-proline-hydroxyproline in bones and teeth in growing rats for 12 days following simultaneous parenteral injection of these tracers. Expressions for the relative rates of collagen synthesis and breakdown, which unlike mineral metabolism are considered not to be complicated by exchange phenomena, were based on14C-proline conversion to14C-hydroxyproline; the specific activity of the latter was determined. Both the mineral and the collagen specific activities reflected the rates and patterns of growth of the samples assayed; rapid growth and a short interval of time between formation and resorption of tissue in themetaphyseal bone which contains the cartilagineous growth plate, slow growth and an interval of time between formation and resorption of tissue indiaphyseal bone and incisor teeth which is longer than the 12 days of the experiment. However, in metaphyseal bone the specific activity collagen/mineral ratio dropped by one half during the 4–12 day interval in contrast to diaphyseal bone and incisor teeth in which no change in this ratio was observed during this period of time. The data indicate that collagen in the metaphyseal growth zone is removed by resorption before it has become fully mineralized, and that exchange is a relatively unimportant factor in the long term kinetics of bone mineral.
Zusammenfassung Das Ausmaß, bis zu welchem Austausch- und Wiederverwendungsprozesse der mineralen Tracer die Messungen des mineralen Skelett-Auf- und Abbaues beeinflussen können, wurde ausgewertet; zu diesem Zweck wurde die Geschwindigkeit des Auftretens und Verschwindens von85Sr und von14C-Prolin-Hydroxyprolin in Knochen und Zähnen von wachsenden Ratten während der 12 auf die simultane parenterale Injektion dieser Tracer folgenden Tage verglichen.Der Ausdruck für die relative Geschwindigkeit des Kollagen-Auf- und Abbaues, bei welchem im Gegensatz zum Mineralmetabolismus kein Mitwirken des Austauschphänomens vermutet wird, basiert auf der Umwandlung von14C-Prolin zu14C-Hydroxyprolin; die spezifische Aktivität des letzteren wurde bestimmt.Aus der spezifischen Aktivität des Minerals sowie jener des Kollagens konnten die Geschwindigkeit und die Art des Wachstums der untersuchten Proben ersehen werden, d.h.schnelles Wachstum und ein kurzes Zeitintervall zwischen Bildung und Resorption des Gewebes imKnochen der Metaphyse, die auch die knorpelige Wachstumsplatte enthält, und andererseitslangsames Wachstum und längeres Zeitintervall (länger als die 12 Tage des Experimentes) zwischen Bildung und Resorption des Gewebes imKnochen der Diaphyse und in den Schneidezähnen. Immerhin fiel die spezifische Aktivität des Kollagen/Mineral-Anteils im Knochen der Metaphyse während dem 4–12tägigen Zeitintervall auf die Hälfte, im Gegensatz zum Knochen der Diaphyse und der Schneidezähne, bei welchen während dieser Zeitspanne kein Unterschied in diesem Verhältnis beobachtet wurde.Diese Ergebnisse zeigen, daß Kollagen in der Wachstumszone der Metaphyse durch Resorption verschwindet, bevor es ganz mineralisiert ist, und daß der Austausch ein relativ unwichtiger Faktor in der Kinetik auf lange Sicht des Knochenminerals ist.
  相似文献   

13.
14.

Background:

Controversy continues regarding the best treatment for compression and burst fractures. The axial distraction reduction utilizing the technique employing the long straight rod or curved short rod without derotation to reduce fracture are practised together with short segment posterolateral fusion (PLF). Effects of the early postoperative mobilization without posterolateral fusion on reduction maintenance and fracture consolidation were not evaluated so far. The present prospective study is designed to assess the effectiveness of i) reduction and restoration of sagittal alignment, ii) no posterolateral fusion on the reduced, fractured vertebral body and injured disc, iii) fracture consolidation and iv) the fate of the unfused cephalad and caudal injured motion segments of the fractured vertebra.

Materials and Methods:

The study includes 15 Denis burst and two Denis type D compression fractures between T12 and L3. The lordotic distraction technique was used for ligamentotaxis utilizing the contoured short rods and pedicle screw fixator. Three vertebrae including the fractured one were fixed. The patients after surgery were braced for ten weeks with activity restriction for 2-4 weeks. The patients were evaluated for change in vertebral body height, sagittal curve, reduction of retropulsion, improvement in neural deficit. The unfused motion segments, residual postoperative pain and bone and metal failure were also evaluated.

Results:

The preoperative and postreduction percentile vertebral heights at, zero (immediate postoperative), at three, six and 12 months followup were 62.4, 94.8, 94.6, 94.5 and 94.5%, respectively. The percentages of the intracanal fragment retropulsion at preoperative, and postoperative at zero, 3, 6 and 12 months followup were 59.0, 36.2,, 36.0, 32.3, and 13.6% respectively.The preoperative and postreduction percentile loss of the canal dimension and at zero, three, six and 12 months were 52.1, 45.0, 44.0, 41.0 and 29% respectively suggesting that the under-reduced fragment was being resorbed gradually by a remodeling process. The mean initial kyphosis of 33° became mean 2° immediately after reduction and mean 3° at the final followup. The fractured vertebral bodies consolidated in an average period of ten weeks (range 8-14 weeks). The restored disc heights were relatively well maintained throughout the observation period. All paraparetic patients recovered neurologically. There were no postoperative complications.

Conclusion:

Instrument-aided ligamentotaxis for compression and burst fractures utilizing the short contoured rod derotation technique and the instrumented stabilization of the fractured spine are found to be effective procedures which contribute to the fractured vertebral body consolidation without recollapse and maintain the motion segment function.  相似文献   

15.
Principles and Practice of Hemofiltration and Hemodiafiltration   总被引:8,自引:0,他引:8  
There is growing interest in the convective dialysis therapies, hemofiltration (HF) and hemodiafiltration (HDF). Both require dialysis membranes which are highly permeable to solutes as well as fluid, and in both cases large volumes of ultrafiltration are the condition for convective transport. In HDF the convection is combined with diffusion, and as a consequence, maximum clearance over the entire molecular weight spectrum is achieved. Optimal forms of HDF provide urea clearance 10–15% higher than the corresponding diffusive mode. The larger the solute, the greater is the impact of convection, and β2-microglobulin (β2m) levels may be up to 70% reduced. Traditional postdilution HF provides high clearance of medium sized and large molecules. Satisfactory clearance of small solutes requires blood flows in excess of 500 ml/min. With access to practically unlimited volumes of substitution solution through on-line ultrafiltration, predilution HF can now be used. This increases the clearance of small solutes to an acceptable range. For HDF as well as HF, large patient populations consistently treated for longer periods of time are needed to make valid outcome comparisons with other therapies.  相似文献   

16.
骨折不愈合与延迟愈合的成因与治疗   总被引:20,自引:0,他引:20  
目的探讨骨折不愈合与延迟愈合的成因、报肯治疗的方法与设果。方法对1990年7月~2004年12月间收治的107例骨折不愈台、54例骨折延迟愈合2例先天性胫骨骨不连进行回顾性研究,分析原因,随访治疗结果。18例延迟愈合行保守治疗,本组其他145例行手术治疗,结果除2例先天性胫骨骨不连外,其余161例的成因中均有医源性因素。10例失去随访,153例平均随访17(6-28)个月,骨折均获骨性连接,愈合时间平均10(6-14)个月,肢体功能恢复良好,结论医源性技术缺陷是骨折不愈合与延迟愈合的主要原因,针对各种不同因素进行合理治疗可获得满意效果。  相似文献   

17.
Phaeochromocytomas and paragangliomas (PPGL) are catecholamine-secreting neuroendocrine tumours arising from the chromaffin cells in the adrenal medulla. These tumours may be identified incidentally, as part of a work-up for multiple endocrine neoplasia or following haemodynamic surges during unrelated procedures. Advances in perioperative management and improved management of intraoperative haemodynamic instability have significantly reduced surgical mortality from around 40% to less than 3%. Surgery is the definitive treatment in most cases and laparoscopic resection where possible is associated with improved outcomes. Anaesthetic management of PPGL cases represents a unique haemodynamic challenge both before and after tumour resection. In this article we describe the physiology of these tumours, their diagnosis, preoperative optimization methods, intraoperative anaesthetic management and management of postoperative complications.  相似文献   

18.
19.
Nausea and vomiting are both very unpleasant experiences. The physiology is poorly understood; however, understanding what we do know is key to tailoring a preventative or therapeutic antiemetic regime. There are two key sites in the central nervous system implicated in the organization of the vomiting reflex: the vomiting centre and the chemoreceptor trigger zone. There are five key neurotransmitters involved in afferent feedback to these areas. These are histamine (H1 receptors), dopamine (D2), serotonin (5-HT3), acetyl choline (muscarinic) and neurokinin (substance P). Postoperative nausea and vomiting will occur in around one-third of elective patients who have no prophylaxis. This can result in many detrimental effects including patient dissatisfaction, unplanned admission and prolonged recovery. It is therefore essential that clinicians understand how they can prevent and treat nausea and vomiting using either a single agent or a combination of antiemetics to target relevant receptors. Commonly used drugs include antihistamines, dopamine antagonists, serotonin antagonists and steroids. More novel agents are being developed such as aprepitant, a neurokinin receptor antagonist, palonosetron, a 5HT3 receptor antagonist and nabilone, a synthetic cannabinoid.  相似文献   

20.
Nausea and vomiting are both very unpleasant experiences. The physiology is poorly understood; however, understanding what we do know is key to tailoring a preventative or therapeutic antiemetic regime. There are two key sites in the central nervous system implicated in the organization of the vomiting reflex: the vomiting centre and the chemoreceptor trigger zone. There are five key neurotransmitters involved in afferent feedback to these areas. These are histamine (H1 receptors), dopamine (D2), serotonin (5-HT3), acetyl choline (muscarinic) and neurokinin (substance P). Postoperative nausea and vomiting will occur in around one-third of elective patients who have no prophylaxis. This can result in many detrimental effects including patient dissatisfaction, unplanned admission and prolonged recovery. It is therefore essential that clinicians understand how they can prevent and treat nausea and vomiting using either a single agent or a combination of antiemetics to target relevant receptors. Commonly used drugs include antihistamines, dopamine antagonists, serotonin antagonists and steroids. More novel agents are being developed such as aprepitant, a neurokinin receptor antagonist, palonosetron, a 5HT3 receptor antagonist, and nabilone, a synthetic cannabinoid.  相似文献   

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