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 观察紫河车提取物联合顺铂对人脑胶质瘤细胞增殖与凋亡的影响。方法 把正常培养传代后的U251胶质瘤细胞按随机分配的方法分为四组,A组仅加普通培养液,B、C、D组各加紫河车提取物(400 mg/mL)2 mL、顺铂(1 mg/mL)0.01 mL、紫河车提取物(400 mg/mL)2 mL＋顺铂(1 mg/mL)0.01 mL;MTT法观察U251细胞增殖情况,流式细胞仪检测U251细胞凋亡率。结果 培养12、24、36、48、60 h,B、C、D组细胞增殖指数逐渐下降,与A组进行比较,各组P值均小于0.05;其中,将D组与B、C组进行比较,P值小于0.05。将各组培养24 h后上机,测得A、B、C、D各组细胞的凋亡率分别为(0.3±0.2)%,(10.6±1.5)%,(35.9±2.8)%,(52.1±4.1)%。其中,B、C、D各组和A组进行比较,P值均小于0.05;将D组与B、C组两组进行比较,P值也均小于0.05。结论 紫河车提取物联合顺铂可抑制人脑胶质瘤U251细胞增殖,并诱导其凋亡。

Objective To observe the effect of cisplatin combinated with the placental immunoregulating polypeptide (PIP) on proliferation and apoptosis of glioma cells. Methods Randomly we divide the normal handed U251 glioma cells into four groups. We added ordinary nutrient solution to group A, while added activated PIP(400 mg/mL)2 mL to group B, cisplatin (1 mg/ml) 0.01 ml to group C, PIP 400 mg/mL)2 mL and cisplatin (1 mg/mL) 0.01 mL to group D. We surveyed the proliferation rate of gliobma cells by MTT experimental method and analyzed the apoptosis of U251 glioma cells by flow cytometry. Results The index of cell proliferation of group B,C,D declined gradually with the training of 12 h,24 h,36 h,48 h,60 h. Compared B, C,D group with A group, P<0.05,and compared group D with group B and group C, P< 0.05. Put groups culturing of 24 hour on flow cytometer, the glioma cells apoptosis rate of each group was 0.3%±0.2%、10.6%±1.5%、35.9%±2.8%、52.1%±4.1% respectively. Compared group B,C,D with group A, P<0.05,and compared group D with group B and group C, P<0.05. Conclusion Placental immunoregulatingpPolypeptide combined with cisplatin may restrain the proliferation of human glioma cells, meanwhile increase the apoptosis of glioma cells.

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 探讨川芎嗪对链脲佐菌素(STZ)诱导2型糖尿病大鼠肾病的治疗作用及机制。方法 SD大鼠50只,随机分为正常组和模型组。除正常组外,其余大鼠均给予高脂-高糖饲料喂养4周,再给予链脲佐菌素(40 mg/kg,ip),72 h后测定空腹血糖,将血糖值高于16.67 mmol/L的大鼠随机分成4个组即模型组,二甲双胍阳性组(250 mg/kg),川芎嗪低、高剂量组(80、160 mg/kg),连续给予相应试药8周。其中正常组和模型组的大鼠均给予同等量蒸馏水灌胃。实验结束时,测定大鼠血糖、尿蛋白、血尿素氮和血肌酐含量;免疫组化法测定大鼠肾组织TLR4和caspase3蛋白表达。光镜下观察肾脏病理学变化。结果 与模型组比较,二甲双胍组和川芎嗪高剂量组给药8周后,大鼠动态空腹血糖均能明显降低(P<0.05),大鼠动态尿蛋白显著性降低(P<0.01,P<0.05); 二甲双胍和高剂量组TLR4和caspase3蛋白表达明显低于模型组(P<0.05);肾脏组织病理性损伤明显减轻。结论 川芎嗪对STZ诱导2型糖尿病大鼠肾病具有保护作用,其机制可能与下调TLR4表达作用有关。

Objective To investigate the therapeutic effects and mechanisms of tetramethylpyrazine (TMP) on streptozocin(STZ)-induced-nephropathy in type 2 diabetic rats. Methods 50 SD rats were randomly divided into normal group(n=10) and model group(n=40). The model rats were fed on high fat and sugar diets for 4 weeks, then given STZ(40 mg/kg,ip). After 72 hours, the fasting blood glucose (FBG) was measured. Rats with high FBG above 16.67mmol/L were randomly divided into four groups: model, metformin(Met, 250 mg/kg)and TMP (80 mg/kg, 160 mg/kg) groups for treating 8 weeks, and both the control and model groups were given equals distilled water by intragastric administration. At the end of the experiment, blood glucose, urine protein, blood urea nitrogen and creatinine were measured. The expression of TLR4 and caspase3 protein in kidney tissue of rats was determined by immunohistochemistry. Pathological changes of kidney were observed under light microscope. Results Compared with the model group, metformin and high dose of TMP administered after 8 weeks, rats can significantly reduce the dynamic fasting blood glucose(P<0.05). Urinary protein excretion of total dynamic decreased significantly (P<0.01, P<0.05); the protein expression of TLR4 and caspase3 in the metformin group and high dose group was significantly lower than that in the model group (P<0.05); kidney tissue pathological damage was significantly reduced. Conclusion TMP has a protective effect on STZ induced nephropathy in type 2 diabetic rats, and its mechanism may be related to the down-regulation of TLR4 expression.

环孢素A(cyclosporin A,环孢素A)是强效的免疫抑制剂,常用于抑制器官移植后的排斥反应,器官移植后新发糖尿病与免疫抑制剂的使用有关。除器官移植,环孢素A还被用于治疗其他自身免疫性疾病,例如1型糖尿病。但环孢素A对胰岛β细胞和其他多种器官有毒副作用,长期使用环孢素A会导致胰岛素抵抗和胰岛β细胞功能损伤,这也是器官移植后糖尿病(post-transplant dibetes mellitus,PTDM)的主要原因。因此在糖尿病领域环孢素A的使用需要对病情进行具体分析和仔细斟酌。

Cyclosporin A (CsA) is a powerful immunosuppressant that is widely used to prevent organ rejection and to treat several autoimmune diseases, such as type 1 diabetes mellitus. Post-transplant diabetes mellitus (PTDM) is related with immunosuppressant. Moreover, there are many toxicity and side effects of CsA on pancreatic β cell and other organs, Long-term treatment of CsA may cause insulin resistance and β cell dyfunction. That's the main reason for post-transplant dibetes mellitus (PTDM). In diabetes mellitus fields, CsA must be used carefully considered.

目的 采用Meta分析系统定量地评价我国高中生与大学生艾滋病健康教育的干预效果,为在学生群体中开展艾滋病健康教育提供科学依据。方法 以“艾滋病”、“健康教育”、“大学生”和“高中生”为主题词和关键词联合检索PubMed、中国知网和万方数据库的相关文献,各数据库检索时间范围限定在2006年1月—2017年6月。对符合纳入排除标准的文献进行质量评价及摘录所需数据,以健康教育前后艾滋病常识得分作为效应值,运用Revman 5.3软件进行Meta分析。结果 共纳入19篇合格文献。Meta分析结果显示,健康教育对中学生与大学生艾滋病常识得分影响的标准均数差(Standard Mean Difference,SMD)=1.17(95% CI=0.88～1.47)。结论 健康教育对提高我国高中生与大学生艾滋病相关知识的知晓有较好的效果。

目的 探讨二孩政策后二次妊娠孕妇产前不良情绪及影响因素。方法 选取2016年2月—2017年1月我院收治二次妊娠待产孕妇93例作为研究组,选取同期收治初产妇50例作为对照组,采用汉密顿焦虑量表(HAMA)和抑郁状态采用抑郁自评量表(SDS)评估比较两组产期焦虑、抑郁情绪,同时按照HAMA、SDS评分结果将研究组患者分为A组(合并不良情绪)和B组(未合并不良情绪),采用单因素和多因素Logistic回归分析方法分析影响二次妊娠孕妇产前不良情绪危险因素。结果 研究组HAMA、SDS评分均高于对照组(P＜0.05)。妊娠合并症、不适应医院环境、未参加孕妇学校及胎儿异常均为影响二次妊娠孕妇产前不良情绪危险因素。结论 二孩政策后二次妊娠孕妇产前易合并不良情绪,影响产前不良情绪危险因素较多,产前应针对性进行预防和干预。

目的 探讨高速改良涡轮手机拔除下颌阻生第三磨牙的临床疗效。方法 回顾性分析2013年12月—2016年12月于本科室拔除下颌阻生第三磨牙600例临床案例,按拔除方式不同,将其分为高速涡轮手机组和传统凿骨劈冠组,各300例。其中高速涡轮手机组给予高速涡轮手机拔除法拔除下颌第三磨牙,传统凿骨劈冠组给予传统凿骨劈冠拔除法拔除下颌第三磨牙。统计分析两组患者拔出后疗效情况、拔除使用时间、以及拔除后疼痛度及张口受限度情况。结果 高速涡轮手机组患者拔牙优良率明显高于传统凿骨劈冠组,差异有统计学意义(P<0.05),而疗效差发生率明显低于传统凿骨劈冠组,差异有统计学意义(P<0.05);高速涡轮手机组患者拔牙时间在30min内人数明显多于传统凿骨劈冠组,差异有统计学意义(P<0.05),而在30min以上的人数明显少于传统凿骨劈冠组,差异有统计学意义(P<0.05);高速涡轮手机组患者拔牙后疼痛度1级和张口受限度1级人数明显多于传统凿骨劈冠组,差异有统计学意义(P<0.05),而术后疼痛度2级、3级和张口受限度2级、3级均明显少于传统凿骨劈冠组,差异有统计学意义(P<0.05)。结论 高速改良涡轮手机拔除下颌阻生第三磨牙具有创口小,伤口愈合较良好,用时短以及能促进患者术后舒适。

通过文献检索,对2001—2016年我国学者在国内发表的有关人工髋关节置换后假体周围骨折的Vancouver分型及其治疗方法进行汇总、归纳和分析, 总结分析国内初次生物型人工髋关节术后假体周围骨折病例的Vancouver分型及其不同治疗方法的优良率,为临床决策中选择适合的手术方法提供一定的参考借鉴。共有 117 篇文献入选,统计结果显示入选病例数前三位的省份分别是河南220例占13.3%,上海173例占10.5%,江苏163例占9.9%;Vancouver分型中A型骨折201例占12.2%,B型骨折1226例占74.4%,C型骨折221例占13.4%。AG型骨折行记忆合金环抱器或钢丝环扎+植骨治疗,AL型骨折行翻修+锁定钢板+钢丝或翻修+锁定钢板+植骨治疗,疗效显著;B1、B2、B3型骨折分别采用加压钢板+植骨、翻修+钢板+钢丝+植骨、翻修+记忆合金环抱器+植骨治疗,术后平均优良率可达100%;C 型骨折治疗方法较多,如LISS钢板+植骨、锁定钢板+钢丝、股骨髁钢板+钢缆+植骨、动力髋钢板+钢丝,疗效均较满意。我国人工髋关节置换术地区间开展不平衡,应根据Vancouver 分型,综合考虑患者骨折类型、骨折位置、假体稳定性、骨量丢失情况等提出个体化的治疗方案,提高临床疗效。

目的 探讨ERCC1、RRM1、TS蛋白表达对晚期非小细胞肺癌(NSCLC)个体化治疗的指导意义。方法 收集经病理确诊的晚期NSCLC患者87例,其中67例愿意接受药敏免疫组化检测的患者作为研究组,采用SP法检测肿瘤组织ERCC1、RRM1、TS蛋白表达,并根据蛋白表达情况选择化疗方案;另外20例患者不进行药敏免疫组化检测,以常规吉西他滨联合顺铂方案化疗,以此作为对照组。比较两组患者化疗的有效率,疾病控制率(DCR),并以无进展生存期(PFS)为指标比较患者预后。结果 研究组67例患者中,PR 33例(49.25%),SD 13例(19.4%),PD 21例(31.35%);对照组20例患者中,PR 4例(20%),SD 4例(20%),PD 12例(60%),两组疗效之间有差异( χ²=6.437,P=0.04),研究组DCR为68.6%,高于对照组DCR 40%,差异有统计学意义(χ²=5.372,P=0.034)。研究组患者的中位PFS高于对照组,研究组的PFS为5月,对照组为3月,差异有统计学意义(P＜0.05)。结论 对晚期NSCLC患者进行ERCC1、RRM1、TS药敏蛋白免疫组化检测,指导个体化治疗方案,能提高患者化疗的疾病控制率及延长患者的疾病进展时间。