目的 探讨原发性肉碱缺乏症的诊断与治疗方案,对2例原发性肉碱缺乏症患儿及其家系行SLC22A5基因检测,确定基因突变位点,为家系提供遗传疾病的咨询。方法 用串联质谱技术对1例疑似患儿进行游离肉碱及多种酰基肉碱检测,对游离肉碱降低的患儿行SLC22A5基因突变检测,确诊PCD,对其姐姐行上述检查。对2例确诊PCD患儿补充左旋肉碱治疗,随访11个月。并对其家系行SLC22A5基因检测。结果 2例确诊PCD患儿,1例为临床患儿,另1例为其姐姐,无明显临床表现。2例患儿均检测到基因突变。2例患儿血游离肉碱水平低于参考值,伴多种酰基肉碱显著降低,均给予补充左旋肉碱治疗,1例治疗2月后症状改善,另1例未曾未发病,血游离肉碱及其他酰基肉碱水平上升至正常。2例患儿SLC22A5 c.760C>T,(p.Arg254X)纯合,致病突变;患儿父母亲SLC22A5基因的c.760C位点检测,发现:均携带c.760C>T,(p.Arg254X)杂合突变。结论 应用串联质谱技术检测血游离肉碱、多种酰基肉碱水平及SLA22A5基因突变检测诊断了2例PCD,均补充左旋肉碱取得较好疗效。SLC22A5基因c.760C>T,(p.Arg254X)突变是本家系中患有PCD的致病突变,用错义突变和剪切改变的分析手段对SLC22A5基因的外显子编码区进行直接测序可为PCD家系提供遗传咨询。

Objective To explore the diagnosis and treatment of primary carnitine deficiency. To identify potential mutation of SLC22A5 gene in two children affected with primary carnitine deficiency and provide genetic counseling. Methods We measured the free camitine(Co)and acylcamitine levels in a suspected clinical inherited metabolic diseases by tandem mass spectrometry. The SLC22A5 gene mutations were tested to the children with low Co level and the diagnosis was made. Then, We measured the free camitine(Co)and acylcamitine levels and SLC22A5 gene mutations in her sister. The children with PCD were treated with carnitine and followed up for 11 months. The SLC22A5 gene was detected in their family. Results In two children affected with PCD, 1 case was clinical children, another case of their sister was no obvious clinical manifestations. Mutations were found in all of them.The average C0 level in patients was lower than the reference value,along with decreased level of different acylcamitines. Two cases were treated with earnitine. Their clinical symptoms reduced 2 months later. Another case had not been sick. The CO level and different acylcamitines level in the blood rose to normal. A homozygous mutation C. 760C>T (P. Arg254X)of the SLC22A5 gene was detected in the two cases.Heterozygous mutation C. 760C>T (P.Arg254X) was also found in other family members. Conclusion Two patients were diagnosed with PCD by the test levels of free carnitine and acylcarnitines in blood with tandem mass spectrometry,and gene mutation test. L-carnitine supplement had a good effect in treatment of the PCD patients.C.760C> T (P.Arg254X) mutations of the SLC22A5 gene is the deleterious mutations for PCD families, The analysis method of the wrong mutagenesis and shear changes which is used to directly sequence the exons codes of the SLC22A5 gene can provide genetic counseling for PCD families.

目的 观察芳香烃受体(AhR)及Th17相关细胞因子在类风湿关节炎中的表达水平及其对疾病的预测价值。方法 选择2014年1月—2015年12月于我院就诊的RA患者60例作为观察组,选取同期于我院进行健康体检的正常人60例作为对照组,采用酶联免疫吸附法检测血清中 IL-17、IL-23及AhR的表达水平,并分析其与疾病活动度的关系。结果 RA患者血清IL-17、IL-23及AhR水平高于对照组(P＜0.05)。而根据病情严重程度,RA 非早期组IL-17、IL-23及AhR水平较早期组增高(P＜0.05)。血清 IL-17 水平与除CRP以外的病情活动度指标均呈正相关关系(P＜0.05)。IL-23 水平与SJC、TJC、HAQ 、DAS28 评分呈正相关关系(P＜0.05),但其他指标无明显相关性(P>0.05)。RA患者PBMC中AhR的表达水平与各项临床指标无相关性(P>0.05)。IL-17和IL-23水平与Sharp评分呈正相关关系(r=0.895,P＜0.01;r=0.708,P＜0.01)。AhR的表达与血清IL-17和IL-23水平呈正相关(r=0.415,P＜0.01)。经荧光定量PCR检测结果显示,RA患者AhR及其下游因子CYP1A1、IL-17、FOXP3 mRNA的表达水平高于对照组(P＜0.05)。且RA 非早期组AhR及其下游因子CYP1A1、IL-17、FOXP3 mRNA的表达水平较早期组增高(P＜0.05)。经相关关系检测,RA患者AhR及其下游因子CYP1A1、IL-17、FOXP3 mRNA的表达水平与Sharp评分呈正相关关系(r=0.715,P＜0.01;r=0.734,P＜0.01;r=0.812,P＜0.01;r=0.755,P＜0.01)。结论 Th17相关细胞因子IL-17和IL-23在RA病理生理过程中发挥重要作用,其表达增高,提示关节炎症处于活跃状态,骨质破坏较重,可作为评估RA病情的重要指标。RA患者体内AhR蛋白及其相关下游信号通路均呈高表达状态,AhR通路在RA患者的发病过程中可能发挥关键作用。

Objective To observe the expression level of aroma receptor (AhR) and Th17 related cytokines in rheumatoid arthritis and its predictive value to disease. Methods Sixty patients with RA who were treated in our hospital from January 2014 to December 2015 were selected as the observation group. Sixty healthy subjects were randomly selected as the control group. IL-17, IL-23 and AhR levels in serum were detected by enzyme-linked immunosorbent and the relationship between IL-17, IL-23 and disease activity were analyzed. Results IL-17, IL-23 and AhR levels in serum of RA patients were significantly higher than those in controls (P<0.05). However, the levels of IL-17, IL-23 and AhR levels were significantly higher in the non- early RA group than in the early group (P<0.05), depending on the severity of the disease. There was a positive correlation between serum IL-17 level and disease activity index except CRP (P<0.05). IL-23 level was positively correlated with SJC, TJC, HAQ and DAS28 scores (P<0.05), but no significant correlation was found between other indexes (P>0.05). The expression level of AhR in PBMC of RA patients was not correlated with clinical indexes (P>0.05). IL-17 and IL-23 levels were positively correlated with Sharp score (r=0.895, P<0.01; r=0.708, P<0.01). The expression of AhR was positively correlated with serum IL-17 and IL-23 levels (r=0.415, P<0.01). The expression of AhR and its downstream factors CYP1A1, IL-17 and FOXP3 mRNA in RA patients were significantly higher than those in the control group (P<0.05) by fluorescence quantitative PCR. The expression of AhR and its downstream factors CYP1A1, IL-17 and FOXP3 mRNA in RA group were significantly higher than those in early group (P<0.05). The expression level of AhR and its downstream factors CYP1A1, IL-17 and FOXP3 mRNA in RA patients were positively correlated with Sharp scores (r=0.715, P<0.01; r=0.734, P<0.01; r=0.812, P<0.01; r=0.755, P<0.01). Conclusion The Th17-related cytokines IL-17 and IL-23 play an important role in the pathophysiology of RA, and the expression of Th17-associated cytokines is increased, suggesting that arthritis is active and bone destruction is serious. The AhR protein and its associated downstream signaling pathways are highly expressed in RA patients, and the AhR pathway may play a key role in the pathogenesis of RA patients.

目的 分析PBK在前列腺癌中的表达及临床意义。方法 利用前列腺癌的组织芯片,包含98例前列腺癌及81例对照癌旁组织作为研究对象,免疫组化方法检测PBK的表达情况,并运用统计学方法分析免疫组化芯片及Taylor数据库中PBK表达与前列腺癌临床病理特征之间的关系。结果 PBK在前列腺癌中表达明显升高(P=0.001);且在Gleason高评分组的表达比低评分组表达升高(P=0.001)。Taylor数据库得到相似结果,且运用Kaplan-Meier分析发现PBK与无生化复发生存率显著相关(P=0.007),最后采用Cox回归模型进行多因素综合分析发现在影响前列腺癌预后的队列中,PBK高表达(P=0.041)与Gleason评分、病理分期都是前列腺癌生化复发的独立预测指标。结论 PBK的表达与前列腺癌密切相关,可作为临床诊断及治疗的分子标志物。

Objective To investigate the expression and clinical significance of PBK in prostate cancer. Methods Using tissue microarrays of prostate cancer, which including 98 cases of prostate cancer and 81 cases of normal tissue adjacent to cancer as the research object, the expression of PBK was detected by immunohistochemistry, and statistical analysis was used to analyze the relationship between the expression of PBK and the clinicopathological features of prostate cancer in the microarray and Taylor database. Results The expression of PBK in prostate cancer was significantly higher (P=0.001), and the expression increased in the group of high Gleason score (P=0.001). The Taylor database obtained similar results, and Kaplan-Meier analysis showed that PBK was significantly correlated with the biochemical recurrence free survival (P=0.007). Finally, Cox regression model was used to analyze the prognostic factors of prostate cancer. Result shows that, the high expression of PBK (P=0.041), Gleason score and pathological stage were independent predictors of biochemical recurrence of prostate cancer. Conclusion The expression of PBK is closely related to prostate cancer, and can be used as a molecular marker for clinical diagnosis and treatment.

目的 探讨医护合作客观结构化临床考试(OSGE)培训对手术室低年资护士应急能力的影响效果。方法 对36名手术室低年资护士进行医护合作OSGE培训,于培训前和培训后3个月对低年资护士进行手术意外事件应对能力、实际参与应对手术意外事件能力以及对手术配合满意度的测评。结果 培训后低年资护士在医护配合、抢救仪器准备、抢救能力、病情评估、应对能力的得分显著提高,在护士抢救到位时间、抢救仪器到位时间、静脉穿刺成功时间明显缩短,医护对手术配合满意度明显提升,与培训前比较差异均有统计学意义(P＜0.05)。结论 对手术室低年资护士进行医护合作OSGE培训,可提高其对手术意外事件应对能力和实际参与应对手术意外事件能力,提高医护人员对手术配合的满意度,降低手术风险。

Objective To explore the effect of Objective structured clinical examination (OSGE) training on theemergency ability of nurses in the operation room. Methods Medical cooperation OSGE training was taken for 36 junior nurses in operation room. We evaluated their undergo operation contingency ability, participation contingency ability and operation cooperation in 3 months before and after training. Results After the training, the junior nurses in medical care cooperation, rescue ability, equipment preparation, condition assessment, coping ability were significantly higher. Nurses′s in-place time, equipments in place time, puncture time were shortened. Cooperation satisfaction was improved significantly. Compared with that before training, the differences were statistically significant (P<0.05). Conclusion Medical cooperation OSGE training for junior nurses in operation room may improve undergo operation contingency ability, coping contingency ability and operation cooperation, reduce the risk of surgery.

目的 探讨维持性腹膜透析患者高尿酸血症的临床特点及相关影响因素。方法 收集152名腹膜透析患者,根据血尿酸情况将患者分为高尿酸血症组和正常血尿酸组,分析其临床资料。结果 高尿酸血症112例(73.7%)。高尿酸血症组的血钾、高血压史、血尿素氮、血清肌酐、血磷、iPTH、甘油三脂水平均较正常尿酸组升高(P均＜0.05);而年龄、血钠、血红蛋白、血白蛋白、前白蛋白、血钙、血清铁、总蛋白、hsCRP、空腹血糖、血总胆固醇、血高密度脂蛋白胆固醇、血低密度脂蛋白胆固醇、KT/V、PET无统计学差异(P均＞0.05)。血尿酸水平与血钾、血尿素氮、血磷呈正相关(P＜0.05)。结论 腹膜透析患者高尿酸血症发生率高,血尿酸与血钾、血尿素氮、血磷密切相关,及时纠正高尿酸血症可以改善预后。

Objective To investigate the clinical characteristics and its related influence factors of hyperuricemia in peritoneal dialysis patients. Methods A total of 152 peritoneal dialysis patients were enrolled. Patients were classified into hyperuricemia and normal serum uric acid (SUA)groups. Factors associated with hyperuricemia were analyzed. Results Hyperuricemia occurred in 112 cases(73.7%). There were significant differences in serum potassium, the incidence of hypertension, blood urea nitrogen, serum creatinine, serum phosphorus, parathyroid hormone, triglyceride between hyperuricemia and normal SUA groups(P<0.05). There was no significant difference in age, serum sodium, hemoglobin, serum albumin, prealbumin, serum calcium, serum iron, total protein, high sensitive C-reactive protein, serum glucose, total cholesterol, high density lipoproteins, low density lipoproteins, KT/V and PET(P>0.05). SUA levels was positively correlated with serum potassium, blood urea nitrogen and serum phosphorus(P<0.05). Conclusion Hyperuricemia was common in peritoneal dialysis patients, serum potassium levels is correlated with serum potassium, blood urea nitrogen and serum phosphorus. The timely treatment of hyperuricemia may improve the prognosis of peritoneal dialysis patients.

目的 对比观察单孔、单操作孔及三孔胸腔镜治疗早期非小细胞肺癌(NSCLC)的临床疗效。方法 选择125 例早期NSCLC患者,分为单孔组(38例)单操作孔组(42例)和三孔胸腔镜组(45例),观察3组手术结果和并发症发生率。结果 3组患者均顺利完成手术,无中转开胸。单孔组手术时间长于单操作孔及三孔组,差异有统计学意义(P＜0. 05)。对比所有3组手术患者的术中出血量及淋巴结清扫数目、术后总引流量及引流管留置时间、术后并发症发生率,差异无统计学意义(P＞0. 05)。单孔组及单操作孔组术后疼痛程度评分优于三孔组,差异有统计学意义(P＜0. 05)。结论 单孔及操作孔胸腔镜治疗早期NSCLC已可取代三孔胸腔镜技术,其术后恢复快,疗效确切,其中单孔手术对设备及胸腔镜医师操作技术熟练程度等要求更高,故在设备仍未有突破性的进展时,单操作孔胸腔镜手术可作为治疗早期NSCLC的优先选择。

Objective To compare the clinical effects of uniportal video-assisted thoracic surgery (VATS), single utility port VATS and 3-portal VATS lobectomy for patients with early stage non-small cell lung cancer. Methods Patients were divided into uniportal VATS lobectomy group(n=38), single utility port VATS lobectomy group(n=42) and 3-portal VATS lobectomy group (n=45). The surgical results and complication rates were observed. Results All patients completed the operation successfully, no one was changed to open operation. Operation time in uniportal VATS lobectomy group were longer than single utility port VATS lobectomy group and 3-portal VATS lobectomy group(P＜0. 05). There were no significant differences in intraoperative blood loss, number of lymph node dissection, the amount and time of postoperative extubation, and the incidence of postoperative complications(P＞0. 05). Post-operative pain score were higher in 3-portal VATS lobectomy group than in uniportal VATS lobectomy group and single utility port VATS lobectomy group (P＜0. 05). Conclusion Uniportal VATS lobectomy and single utility port VATS lobectomy can replace the 3-portal VATS lobectomy in treatment of early NSCLC, because of the faster postoperative recovery and curative effect. Uniportal VATS lobectomy requires special equipment and more operation skills, as there is no breakthrough in the equipment, single utility port VATS lobectomy may still be used as the first choice for treatment of early NSCLC.

目的 探讨手动杠杆式胸外按压心肺复苏(CPR)装置对院内心肺复苏按压质量和复苏疲劳的影响。方法 将12名医学生志愿者分为手动杠杆式胸外按压CPR装置组(LDCPR)(n=6)和徒手标准CPR组(STCPR)(n=6)模拟院内心肺复苏场景进行CPR试验。LDCPR组采用手动杠杆式胸外按压CPR装置对模拟人进行连续6min连续胸外按压,STCPR组徒手对模拟人进行6min连续胸外按压。监测复苏期间按压的深度、频率以及按压者的心率和疲劳程度等变化。结果 随着连续胸外按压的进行,按压者的心率和疲劳程度都在不断增加,有效按压深度超过5 cm次数逐渐减少,但是在连续胸外按压的第4～6min,LDCPR组按压者的心率较STCPR组慢(P<0.05),疲劳程度较轻(P<0.05),有效按压的比例更高(P<0.05)。按压频率两组比较无明显差异。结论 在本模拟人试验中,手动杠杆式胸外按压CPR装置可减轻按压者疲劳,有助于提高院内CPR时长时间胸外按压的质量。

Objective We aimed to investigate simulated in-hospital cardiopulmonary resuscitation (CPR) quality and rescuer fatigue of external chest compression-only CPR by a manual leverage device(LDCPR). Methods All 12 volunteers (medical staffs: male 6 and female 6) were randomized to standard CPR by hand(STCPR)group (n=6)or LDCPR group(n=6). At STCPR group, continuous external chest compression-only was performed for 6 minutes to simulate in hospital cardiopulmonary resuscitation on a manikin; at LDCPR group, compression-only was performed for 6 minutes by a leverage device on a manikin. We measured blood pressure of the volunteers before and after performing each CPR technique, volunteers self-report fatigue scale and continuously monitored heart rate (HR) of the volunteers during each CPR technique by smart ring. CPR quality measures included chest compression rate and depth. Results During continuous external chest compression-only CPR, compressor's heart rate and fatigue scale were rising continuously, and percent of compress depth >5 cm were declining, too.Compressor's heart rate and fatigue scale were higher in the STCPR group than in the LDCPR group (P<0.05) during the fourth to sixth minutes CPR (P<0.05). Percent of compress depth > 5 cm was higher in the LDCPR group than in the STCPR group (P<0.05) during the fourth to sixth minutes of CPR (P<0.05).Compress rate had not differed between the 2 groups during CPR. Conclusion In the manikin study, manual leverage external chest compress device may reduce fatigue scale and improve long term compression quality during in-hospital cardiopulmonary resuscitation.

目的 了解异鼠李素对LPS刺激下THP-1细胞炎症因子IL-6、MCP-1、TNF-α释放的影响及其抗炎特征。方法 用PI单染色法检测其细胞存活率;用ELISA法检测THP-1细胞炎症因子IL-6、MCP-1、TNF-α释放。结果 不同浓度的LPS均能使炎症因子IL-6释放增高,且24 h及48 h间水平无差异,但随着LPS刺激浓度的增高,细胞的坏死数量也会随之升高;不同浓度的异鼠李素能在不同时间点不同程度地抑制炎症因子MCP-1、TNF-α、IL-6的释放。结论 异鼠李素能抑制LPS刺激下THP-1细胞炎症因子IL-6、TNF-α、MCP-1的释放,并呈浓度依赖性。

Objectives Our study is aim to investigate the influence of the isorhamnetin on the releasing of inflammatory factor cytokines of the THP-1 cells. Methods PI single staining method was used to detect the cell survival rate. ELISA was used to detecte the concentrations of inflammatory cytokines(MCP-1、IL-6、TNF-α). Results The concentration of IL-6 in THP-1 cells were increased after stimulated with LPS and there no difference between the 24 h group and 48 h group. The survival rate of THP-1 cells decreased as the concentration of LPS increased.The isorhamnetin in different concentration could inhibit the secretion of inflammatory cytokines in different time. Conclusion It is found in our study that isorhamnetin may inhibit the secretion of MCP-1, IL-6, TNF-α in THP-1 cells stimulated by LPS in a concentration dependent way.

目的 观察比较术中及术前化疗干预对进展期胃恶性肿瘤手术患者p53、ki-67表达及预后的影响,为临床化疗时间的选择提供理论依据。方法 自2014年8月—2015年5月,我院共收入胃恶性肿瘤患者40例,将40例患者随机分为两组,每组各20例,保证两组患者在性别、年龄、胃癌分期等方面可比,无统计学差异(P＞0.05),标记为Ⅰ组和Ⅱ组。Ⅰ组20例患者于术前进行化疗干预,Ⅱ组在术中给予化疗干预。观察比较两组患者p53、ki-67表达状况及预后。结果 Ⅰ组及Ⅱ组治疗后p53及ki-67均比治疗前升高,差异有统计学意义(P<0.05)。但是治疗后,Ⅰ组和Ⅱ组的p53表达状况组间差异不明显,无统计学意义(P>0.05)。治疗前后,AI差异有统计学意义(P<0.05)。Ⅰ组效果明显好于Ⅱ组,两者差异有统计学意义(P <0.05)。术后六个月、一年随访时发现两组复发率、死亡率差别不大,无统计学意义(P>0.05),术后两年随访发现Ⅱ组复发率、死亡率明显低于Ⅰ组,差异有统计学意义(P<0.05)。结论 术中化疗的疗效优于术前化疗,患者预后较术前化疗好。

Objective To observe the effect of intraoperative and preoperative chemotherapy on the expression of p53, Ki-67 and prognosis in patients with advanced gastric cancer. Methods 40 cases of advanced gastric cancer in our hospital from Aug 2014 to May 2015 were enrolled in the study, and were divide into 2 groups randomly. In group I, 20 patients received chemotherapy intervention befoerer operation, and the other group received chemotherapy intervention during operation. The expressions and prognosis of p53 and Ki-67 were observed and compared between the two groups. Results Group Ⅰ and group Ⅱ after treatment, p53 and Ki-67 were higher than that before treatment, with statistical significance(P<0.05). However, there was no significant difference in the expression of p53 between group Ⅰ and group Ⅱ after treatment, and there was no significant difference(P>0.05). Before and after treatment, the difference of AI was significant, with statistical significance (P<0.05). The effect of group Ⅰ was obviously better than that of group Ⅱ, the difference was statistically significant(P<0.05). Six monthse after the operation and one year follow-up found two groups of recurrence rate and mortality rate had no significant difference(P>0.05). After two years follow-up found the group Ⅱ recurrence rate, mortality was lower than in group Ⅰ (P<0.05). Conclusion The effect of intraoperative chemotherapy is better than that of preoperative chemotherapy, and the prognosis is better than that of preoperative chemotherapy.

目的 探讨急性脑卒中患者颈动脉粥样硬化斑块的超声形态学表现以及探讨不同超声形态学表现的诊断价值。方法 对所有入选受检者进行多层螺旋CT或磁共振(MRI)检查、常规颈动脉超声检查、彩色多普勒血流显像(CDFI)、超声造影技术(CEUS)的影像学资料进行回顾性分析;所入选病例组患者在发病2天内完成上述影像学检查,对照组受检者也在2天内完成上述影像学检查。结果 常规超声发现病例组颈动脉斑块45处、对照组11处;CDFI发现病例组颈动脉斑块远端血流频谱改变35例、对照组11例;超声造影发现颈动脉斑粥样硬化斑块处毛细血管现象病例组15例、对照组2例。斑块表面形态以及内部回声分布情况两项结果与对照组比较差异有统计学意义。结论 脑卒中患者与无症状颈动脉硬化受检者的斑块超声声像图中,斑块表面形态以及内部回声分布两项指标具有明显的鉴别诊断意义。提示表面不光整、内部回声分布不均匀的斑块导致急性脑卒中的可能性较大。