PON1基因rs854572单核苷酸多态性与氯吡格雷抵抗的相关性研究

目的 探讨对氧磷酶1(PON1)基因rs854572单核苷酸多态性与氯吡格雷抵抗(CR)发生的相关性.方法 采用病例-对照研究的方法,共人选850例沈阳军区总医院冠心病住院患者,采用光学比浊法测定20μmol/L二磷酸腺苷(ADP)诱导的残余血小板聚集率(RPA),当RPA≥70％时,即定义为CR.将入选患者分为CR组(n=215)和非氯吡格雷抵抗(NCR)组(n=635),采用焦磷酸测序法测定PON1基因rs854572单核苷酸多态性的基因型及等位基因分布频率.结果 PON1基因rs854572多态位点在两组间基凶型分布频率皆符合Hardy-Weinberg平衡定律,三种基凶型(CC、CG和GG)分布频率在CR组和NCR组分别为23.7％、49.3％、27.0％和24.1％、50.2％、25.7％,三种基因型在两组间分布频率差异无统计学意义(P=0.93).C、G等位基因分布频率在两组间差异亦无统计学意义(P=0.763).Logistic回归校正性别、年龄、体重指数、吸烟、高血压、高脂血症及糖尿病等冠心病易患因素后,PON1基因rs854572单核苷酸多态性仍与冠心病患者CR的发生无相关关系.结论 PON1基因单核苷酸多态位点rs854572与冠心病患者CR的发生无关.     

冠心病合并2型糖尿病发病与CCL21基因rs2812377多态相关性研究

目的 探讨冠心病合并2型糖尿病的发病与CCL21基因rs2812377多态位点基因频率的改变是否存在相关关系,进一步分析CCL21基因rs2812377多态与冠心病合并2型糖尿病患者血浆中CCL21表达水平是否相关。方法 选取自2009年3月至2011年9月北部战区总医院心血管内科收治的225例冠心病合并2型糖尿病患者为研究对象,并设为冠心病合并2型糖尿病组。另纳入同期因胸痛入院但冠状动脉造影证实其冠状动脉主支无狭窄且不满足糖尿病诊断标准的95例患者设为正常对照组。应用酶联免疫吸附实验检测两组研究对象血浆中趋化因子CCL21的表达水平。应用Mass array飞行质谱分析仪对CCL21基因rs2812377单核苷酸多态位点3个基因型TT/GT/GG特点进行分析验证。结果 两组研究对象的趋化因子基因CCL21基因rs2812377多态位点TT型、GT型和GG型3种基因型频率比较,差异均有统计学意义(P<0.05)。CCL21基因rs2812377多态位点T等位基因在冠心病合并2型糖尿病人群的分布频率为33.78%,低于对照人群的44.21%;而G等位基因在冠心病合并2型糖尿病的分布...     

福建地区汉族人群骨保护素基因rs2073617T/C、rs2073618G/C多态性与急性冠脉综合征的相关性研究

目的 探讨骨保护素(OPG)基因启动子rs2073617T/C(950T/C)和第1外显子rs2073618G/C(1181G/C)位点基因多态性在福建地区汉族人群中的分布及其与急性冠脉综合征(ACS)的相关性.方法 纳入福建地区无血缘关系的汉族人720例作为研究对象,分为ACS组(n=360)和对照组(n=360),采用聚合酶链式反应－限制性片段长度多态性(PCR-RFLP)技术对OPG基因950T/C和1181G/C多态性位点进行基因型分型,同时采用DNA测序对酶切产物进行鉴定.结果 在福建地区汉族人群中,OPG基因950T/C多态性TC、TT、CC 3种基因型在ACS组和对照组中的频率分别为47.8％、26.7％、25.6％和43.3％、33.3％、23.3％;1181G/C多态性GG、GC、CC 3种基因型在ACS组和对照组中的频率分别为51.1％、40.0％、8.9％和60.0％、35.0％、5.0％.ACS组与对照组OPG基因950T/C、1181G/C基因型及等位基因频率分布进行比较均差异无统计学意义(P＞0.05).OPG基因950T/C、1181G/C在ACS组患者单支病变、双支病变及三支以上病变组之间比较差异无统计学意义(P＞0.05).结论 福建地区汉族人群OPG 950T/C、1181G/C位点基因多态性与ACS发生无相关性.     

MIF及其基因-173G/C多态性与飞行员动脉粥样硬化危险因素的相关性研究

目的 探讨巨噬细胞移动抑制因子(MIF)及其相关基因-173G/C多态性与飞行员动脉粥样硬化危险因素的关系.方法 收集703例研究对象,分为健康体检的军事飞行员组(n=458)、冠心病组(n=51)及对照组(n=194).将飞行员组进一步按不同机种类型及飞行时间进行分组.分析3组研究对象的一般临床资料.应用ELISA法检测3组人群血浆MIF浓度.采用Taqman探针法对MIF-173G/C(rs755622)位点进行检测,并分析组间基因型、等位基因频率的差异.结果 飞行员组与冠心病组血浆MIF浓度差异无统计学意义(p＞0.05),但均明显高于对照组(p＜0.05).不同机种类型及飞行时间飞行员血浆MIF浓度差异无统计学意义(P＞0.05).三组间基因型、等位基因分布频率差异无统计学意义(P＞0.05).飞行员组CC、CG、GG三种基因型对应的血浆MIF、总胆固醇(TC)和甘油三酯(TG)浓度差异亦无统计学意义(P＞0.05).结论 MIF-173G/C基因多态性可能与AS早期易感性无显著相关性.血浆MIF浓度的升高可能与冠心病的发生发展相关.     

Fetuin-A基因rs1071592和rs2593813位点多态性与多囊卵巢综合征的相关性分析

目的 研究Fetuin-A基因rs1071592和rs2593813单核苷酸多态性与中国重庆地区汉族人群多囊卵巢综合征(P COS)易感性及其内分泌代谢特征的关系.方法 收集147例PCOS患者和156例健康对照者的临床资料及血标本,测定血糖、血脂、性激素等生化指标,应用TaqMan探针荧光定量PCR法对Fetuin-A基因rs1071592和rs2593813位点进行基因分型.147例PCOS患者和20例健康对照者行高胰岛素-正葡萄糖钳夹试验评估其胰岛素敏感性.采用二项logistic回归分析PCOS发病的风险等位基因.结果 PCOS组Fetuin-A基因rs1071592多态性位点AA基因型和A等位基因分布频率明显高于对照组,差异有统计学意义(Pc＜0.05).二项logistic回归分析发现,在rs1071592多态性位点中,AA基因型携带者发生PCOS的风险是CC基因型携带者的4.93倍(OR=4.933,95％CI l.593～15.278,P＜0.05);PCOS患者中AA或AC基因型携带者的体重指数、空腹胰岛素水平、稳态模型的胰岛素抵抗指数(HOMA2-IR)明显高于CC基因型携带者,而M值却明显低于CC基因型携带者,差异有统计学意义(P＜0.05).PCOS组和对照组rs2593813位点基因型和等位基因分布频率差异无统计学意义(Pc＞0.05).结论 Fetuin-A基因rs1071592多态性可能与重庆地区汉族人群PCOS遗传易感性有关,而rs2593813多态性与重庆地区汉族人群PCOS无显著相关.     

新疆维吾尔族精神分裂症与5-羟色胺受体基因多态性关联分析

目的:探讨13q14.1区域5-羟色胺受体基因多态性与新疆维吾尔族(维族)精神分裂症的关系;方法:采用病例一对照研究,应用飞行时间质谱生物芯片技术(MassARRAY)检测新疆地区106例维族精神分裂症患者和123例维族对照组在13q14.1区域5-HT2A的2个SNP(rs6311、rs6313)位点基因型;应用卡方检验和数量性状分析分别进行等位基因、基因型关联分析;结果:维族病例组和对照组rs6311、rs6313位点基因型分布频率均符合Hardy-Weinberg平衡(P＞0.05);等位基因T/C在患者组和对照组中的频数分布比较均无显著性差异(P＞0.05);基因型T/T、C/T、C/C频数分布比较无显著性差异(P＞0.05).结论:5-HT2A基因rs6311、rs6313位点可能不是维族精神分裂症的易感基因,但是不能排除该基因其他SNP位点与维族精神分裂症的关联;新疆维吾尔族精神分裂症5-HT2A基因rs6311、rs6313位点无交互作用.     

96例冠心病介入治疗患者ABCA1基因启动子区-477C/T单核苷酸多态性分析

目的研究ABCA1基因启动子区-477C／T单核苷酸多态性（SNP）与血浆高密度脂蛋白胆固醇（HDL-C）和冠心病的关系。方法用聚合酶链反应、限制性酶切法（PCR-RFLP）检测96例冠心病患者和100例正常人的ABCA1基因启动子区-477位点基因型，比较基因型在冠心病组与正常人组间、冠心病组中不同病变亚组之间分布的差异性及3种基因型与冠心病相关临床指标的关系。结果冠心病组与正常人组比较，3种基因型CC、CT、TT分布频率差异具有显著性。TT基因型、T等位基因在冠心病组中的分布频率明显高于对照组（P〈0．05、P〈0．01）。冠心病组中，急性冠脉综合征组TT基因型、T等位基因明显高于稳定性心绞痛组（P〈0．05、P〈0．01），多支病变组TT基因型明显高于单支病变组（P〈0．05），TT基因型血浆I-IDL-C水平明显低于CC基因型（P〈0．01）。结论ABCAl基因启动子区-477C／TSNP可显著影响中国冠心病者血浆HDL-C水平，而且与冠心病严重程度相关。     

PCSK1和PCSK2单核苷酸多态性与新诊断2型糖尿病的相关性分析

目的探讨重庆地区汉族人前蛋白转化酶枯草溶菌素1(PCSK1)的rs3811951和PCSK2的rs2021785位点单核苷酸多态性(SNPs)与新诊断2型糖尿病(T2DM)之间的相关性。方法采用病例-对照法,收集新诊T2DM组(n=227例)与对照组(n=152例)的临床资料及血标本,测定血糖、血脂等生化指标,采用质谱技术对rs3811951和rs2021785位点进行SNPs分型。结果 PCSK2的rs2021785位点次要等位基因频率在T2DM组显著低于对照组(20.04%vs 26.64%,P=0.0335),次要等位基因A的携带者患T2DM的风险显著降低(OR=0.69,95%CI 0.49~0.97,P=0.0335)。PCSK2基因的rs2021785位点AA基因型频率在T2DM组显著低于对照组(6.6%vs 10.5%,P<0.05),rs2021785位点基因型分布与T2DM显著相关(共显性模型中OR=0.627,95%CI 0.41~0.96,P=0.0308)。PCSK1基因rs3811951位点等位基因频率及基因型分布在T2DM组和对照组差异无统计学意义(P>0.05)。结论重庆地区汉族人群中PCSK2基因rs2021785位点的多态性与T2DM显著相关,而PCSK1基因rs3811951位点多态性与T2DM无显著相关性。     

趋化因子白细胞介素-8 rs4073单核苷酸多态性与冠心病合并2型糖尿病发病相关性研究

目的探讨趋化因子白细胞介素(IL)-8 rs4073单核苷酸多态性与冠心病合并2型糖尿病发病的相关性。方法将自2015年3月至2017年8月于沈阳军区总医院就诊的冠心病合并2型糖尿病患者349例纳入研究组,将同期冠状动脉造影结果阴性且血糖正常者385例纳入正常组。分析IL-8 rs4073单核苷酸基因型和等位基因的分布频率情况;ELISA检测两组患者血清中的IL-8水平,比较IL-8 rs4073不同基因型携带者血清中IL-8的表达差异。结果 IL-8 rs4073单核苷酸存在3种基因型,即TT型、AT型、AA型,其在正常组的分布频率为44.2%、41.3%、14.5%,在研究组为30.5%、46.3%、22.7%;T、A等位基因在正常组的分布频率为64.8%、35.2%,在研究组为53.7%、46.3%。两组比较,差异有统计学意义(P<0.05)。IL-8 rs4073 T等位基因是冠心病合并2型糖尿病发病的独立危险因素(比值比=1.58,95%可信区间1.28~1.94)。观察组血清IL-8水平明显高于正常组,差异有统计学意义(P<0.05)。结论冠心病合并2型糖尿病患者的血清IL-8水平明显高于正常人群,IL-8 rs4073 T等位基因是冠心病合并2型糖尿病发病的独立危险因素。     

趋化因子白细胞介素-8 rs4073单核苷酸多态性与冠心病合并2型糖尿病发病相关性研究

目的探讨趋化因子白细胞介素(IL)-8 rs4073单核苷酸多态性与冠心病合并2型糖尿病发病的相关性。方法将自2015年3月至2017年8月于沈阳军区总医院就诊的冠心病合并2型糖尿病患者349例纳入研究组,将同期冠状动脉造影结果阴性且血糖正常者385例纳入正常组。分析IL-8 rs4073单核苷酸基因型和等位基因的分布频率情况;ELISA检测两组患者血清中的IL-8水平,比较IL-8 rs4073不同基因型携带者血清中IL-8的表达差异。结果 IL-8 rs4073单核苷酸存在3种基因型,即TT型、AT型、AA型,其在正常组的分布频率为44.2%、41.3%、14.5%,在研究组为30.5%、46.3%、22.7%;T、A等位基因在正常组的分布频率为64.8%、35.2%,在研究组为53.7%、46.3%。两组比较,差异有统计学意义(P<0.05)。IL-8 rs4073 T等位基因是冠心病合并2型糖尿病发病的独立危险因素(比值比=1.58,95%可信区间1.28~1.94)。观察组血清IL-8水平明显高于正常组,差异有统计学意义(P<0.05)。结论冠心病合并2型糖尿病患者的血清IL-8水平明显高于正常人群,IL-8 rs4073 T等位基因是冠心病合并2型糖尿病发病的独立危险因素。     

成批煤气爆燃烧伤的救治体会

报道治疗因煤气泄漏爆炸烧伤病员7例，经应用MEBT技术积极救治，其中6例于伤后17天痊愈出院，另一例特重伤员也于伤后30天康复出院。作者认为：应严格按照MEBT／MEBO要求进行规范治疗，正确处理生命体征、休克、感染、脏器功能和创面的辨证关系。同时，不能忽视外科营养在过程中的重要作用，它是创面修复的物质保证。     

Glutamine supplementation in vitro and in vivo,in exercise and in immunodepression

In situations of stress, such as clinical trauma, starvation or prolonged, strenuous exercise, the concentration of glutamine in the blood is decreased, often substantially. In endurance athletes this decrease occurs concomitantly with relatively transient immunodepression. Glutamine is used as a fuel by some cells of the immune system. Provision of glutamine or a glutamine precursor, such as branched chain amino acids, has been seen to have a beneficial effect on gut function, on morbidity and mortality, and on some aspects of immune cell function in clinical studies. It has also been seen to decrease the self-reported incidence of illness in endurance athletes. So far, there is no firm evidence as to precisely which aspect of the immune system is affected by glutamine feeding during the transient immunodepression that occurs after prolonged, strenuous exercise. However, there is increasing evidence that neutrophils may be implicated. Other aspects of glutamine and glutamine supplementation are also addressed.     

Sex differences in neuromuscular fatigability in response to load carriage in the field in British Army recruits

Objectives

Women are resistant to neuromuscular fatigue compared to men in response to a range of exercise tasks. The sex differences in the neuromuscular responses to load carriage have yet to be investigated.

Decrease in eccentric hamstring strength in runners in the Tirol Speed Marathon

Background

The local muscular endurance of knee flexors, during eccentric work in particular, is important in preventing or delaying kinematic changes associated with fatigue during treadmill running. This result, however, may not be transferable to overground running.

Objective

To test the hypothesis that overground running is associated with eccentric hamstring fatigue.

Methods

Thirteen runners (12 male and one female) performed an isokinetic muscle test three to four days before and 18 hours after a marathon. Both legs were tested. The testing protocol consisted of concentric and eccentric quadriceps and hamstring contractions.

Results

There were no significant differences between peak torque before and after the race, except that eccentric peak hamstring torque (both thighs) was reduced.

Conclusion

Overground running (running a marathon) is associated with eccentric hamstring fatigue. Eccentric hamstring fatigue may be a potential risk factor for knee and soft tissue injuries during running. Eccentric hamstring training should therefore be introduced as an integral part of the training programme of runners.     

Oxalosis in primary hyperoxaluria in infancy

Primary hyperoxaluria (PH1) is a rare inborn autosomal recessive metabolic disorder due to the deficiency of hepatic alanine-glyoxylate-aminotransferase. This deficiency results in excessive synthesis and urinary excretion of oxalate, inducing renal stone formation and deposition of calcium oxalate in the kidney, bone, myocardium, and vessels (systemic oxalosis, SO) in the most severely affected individuals. We report renal and skeletal changes in a 3-month-old girl with PH1 and SO. Intense cortico-medullary hyperechogenicity and increased homogeneous radiopacity of normal-sized kidneys suggested the diagnosis of SO. Skeletal survey showed osteopenia and characteristic symmetrical metaphyseal transverse bands in long bones, progressively becoming more dense and migrating towards the diaphysis. Multiple pathological and slowly healing fractures of the limbs occurred at the dense band level. A radiopaque rim was then observed in flat bones, epiphyseal nuclei, and vertebral bodies. Inflammatory granulomatous reaction, induced by the presence of oxalate crystals in the marrow spaces, coexisted with progressively evident radiological signs of secondary hyperparathyroidism, with partially overlapping features. The patient was treated by peritoneal dialysis and hemodialysis until combined liver–kidney transplantation. There are no previous reports of infants treated with hemodialysis for more than 2 years.     

新疆石河子地区奶牛隐性乳房炎的调查与分析

采用LMT法对新疆石河子地区三个规模化奶牛场泌乳牛群进行了隐性乳房炎检测,共检测994头泌乳牛3976个乳区.结果表明:奶牛隐性乳房炎阳性率为81.9%,乳区阳性率为49.1%.数据分析表明,不同年龄、胎次以及有无卧床奶牛的隐性乳房炎阳性率差异显著(P<0.05),后乳区的隐性乳房炎感染率显著高于前乳区感染率(P<0.05),隐性乳房炎乳区发生数也明显影响当日产奶量(P<0.05).     

肺心病慢性呼吸性酸中毒合并代谢性酸碱失衡判断方法探讨(附80例次血气分析)

目的：对42例肺心病慢性呼吸性酸中毒患者的80例次血气测定结果。方法：用不同的酸碱图（卡）及代偿公式进行酸碱类型的初步差别分析。结果：结合临床表现、各种影响因素与治疗反应等作出综合判定。结论：比较二种判定的差异，并提出较为实用、可靠的判断建议，以助于复合型呼吸性酸碱失衡的临床诊断与处理。     

胎龄和日龄对新生儿局部脑血流的影响

目的探讨胎龄及日龄对新生儿局部脑血流(rCBF)变化的影响及规律.方法对早产儿组、足月早期新生儿组、足月晚期新生儿组进行99Tcm-双半胱乙酯(ECD)SPECT脑血流灌注断层显像,并作半定量分析和读片分析.结果早产儿组原始感觉运动区和枕叶rCBF低于足月早期新生儿组(P<0.05),显著低于足月晚期新生儿组(P<0.01),其额叶中份、顶叶rCBF也低于足月晚期新生儿组(P<0.05),其余各叶皮质rCBF随胎龄和日龄的增大有增加趋势.早产儿组脑血流显像图与足月早期新生儿组和晚期新生儿组比较有明显差异.结论早产儿与足月儿rCBF的变化可能与新生儿大脑皮质相应区域发育成熟度和时间顺序有关.     

Radiological strategy in acute stroke in children

The aim of the study was to estimate the preponderance of patterns of pediatric stroke, ischemic or hemorrhagic, their etiologies and the correct diagnostic protocol for acute management.Forty-one consecutive pediatric patients (age range 5-16 years) with an acute stroke observed in acute phase during a 10-year period, were retrospectively evaluated. Twenty-three patients underwent magnetic resonance imaging (MRI), 3 cases were studied by computed tomography (CT) without MRI, and 15 underwent both CT and MRI studies. In 9 cases, intra-arterial digital subtraction angiography (IADSA) was performed after non-invasive preliminary assessment.Seventeen hemorrhagic (41%) and 24 ischemic (59%) strokes were found. Among hemorrhagic forms, 5 cases were due to arteriovenous malformation (AVM), 7 to cavernoma, and 2 to aneurysm. Among ischemic forms, 2 were due to sickle-cell disease, 1 to hyperomocysteinemia, 1 to moyamoya syndrome, 1 to pseudoxantoma elasticum, 3 to prothrombotic state, 1 to Fabry's disease, 1 concomitant with CO intoxication, 5 to venous sinus thrombosis, and 4 to cardio-embolic state. Etiology remains unknown in 8 cases (20.5%).This study shows a moderate prevalence of ischemic over hemorrhagic strokes. Moreover, personal experience suggests that MRI is always more informative than CT and in selected cases should be the first-choice examination in the acute phase.