目的 探讨血清铁蛋白及超敏C反应蛋白联合检测对急性脑出血患者的临床意义。方法 2012年1月—2015年12月,自发性脑出血的患者77例,男42例,女35例;年龄45～82 a,平均年龄(67.19±10.17)a。根据Rankin 评分将患者分成两组,A组,MRS≤2分,预后良好; B组,MRS＞2分,预后差;另选取同期健康体检者35例作为健康对照组,即C组。分别于入院时、发病后第3天、7天、14天时,采静脉血化验血常规、Hs-CRP及SF;于入院时和发病后第3天时,进行头颅CT检查。采用美国国立卫生院神经功能缺损评分(National Institutes of Health Stroke Scale,NIHSS) 分别于入院及随访12个月时,对两组患者神经功能损伤及恢复情况进行评估。结果 77例脑出血患者在发病12个月随访时, 53例患者MRS≤2分,预后良好;24例患者MRS＞2分,预后较差。于入院时、发病后第3天、7天、14天,脑出血患者的Hs-CRP及SF水平均显著高于健康体检人员,差异具有统计学意义(P<0.05);在各时间点脑出血患者中的预后较差组Hs-CRP及SF水平均不同程度高于预后良好组;但在入院发病后第3天则显著高于预后良好组,差异具有统计学意义(P<0.05),同时,脑出血患者中的预后较差组脑水肿量及水肿系数均显著高于预后良好组,差异具有统计学意义(P<0.05)。影响脑出血预后的独立危险因素包括NIHSS评分(P=0.012),Hs-CRP(P=0.027)和SF水平(P=0.041)。结论 Hs-CRP及SF水平在一定程度上可作为脑出血预后的重要评估指标。

Objective To investigate the clinical significance of combined detection of serum ferritin and high sensitive C reactive protein in patients with acute cerebral hemorrhage. Methods From January 2012 to December 2013, 77 cases with cerebral hemorrhage male 42, female 35; aged 45 to 82 year old, average age (67.19±10.17)years old. According to MRS(Modified Rankin Scale) score criteria, patients were divided into good prognosis group(group A) with MRS ≤2, and poor prognosis group (group B)with MRS ＞2. Another 35 cases of healthy physical examination were selected as the healthy control group(group C). RT(Routine blood test), Serum Ferritin(SF)and Hs-CRP were tested at the time of admission, the third, the seventh and the fourteenth day from onset of the disease respectively. Head CT were done at the time of admission, the third day from onset of the disease respectively. Neurological assessment were scored according to the NIHSS criteria(National Institutes of Health Stroke Scale) for the patients in the two groups at the time of admission and 12 months of follow up. Results 77 cases of cerebral hemorrhage were followed up for 12 months, 53 cases with MRS ≤2, the prognosis was good; And 24 cases with MRS >2, the prognosis was poor. The levels of Hs-CRP and SF were all higher in patients with cerebral hemorrhage than that in healthy control group (P<0.05) at the time of admission, the third day,seventh and fourteen day from onset of the disease respectively. The levels of Hs-CRP and SF were higher in group B than that in control group at the time of admission, the third day, the seventh day and the fourteenth day from onset of the disease respectively, but only at the time of admission, three days from onset of the disease, the difference was statistically significant (P<0.05). At the same time, the brain edema and edema index in the group B were higher than those in group A. The independent risk factors influencing the prognosis of cerebral hemorrhage were NIHSS score (P=0.012), Hs-CRP(P=0.027) and SF(P=0.041). Conclusion Hs-CRP and SF may be important indicators of the prognosis for cerebral hemorrhage in a certain degree.

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 对儿童化学发光免疫检验中标本量过少时的稀释方法分析。方法 选取我院2013年5月—2015年5月儿童常规筛查项目50例血清三碘甲状腺原氨酸(TT3)检测为例,其稀释介质分别采用TT3定制液S0、医用蒸馏水以及0.9%氯化钠,对其实施手工2倍(1∶1)和4倍(1∶3)稀释后,对比分析稀释后结合和原始数据差异。结果 结果和原始数据对比,2倍、4倍稀释S0组以及2倍医用蒸馏水稀释结果差异不大,对比没有统计学意义(P＞0.05),其与各组均差异显著(P＜0.05)。结论 在儿童血清三碘甲状腺原氨酸检测中对其实施2倍、4倍稀释S0以及2倍医用蒸馏水稀释能够满足医学检验需求,值得推广应用。

目的 构建吉西他滨耐药乳腺癌细胞4T1耐药株并建立裸鼠乳腺癌肝转移模型。方法 采用低浓度加量持续诱导法,诱导吉西他滨耐药乳腺癌细胞4T1耐药株,命名为4T1/Gem;CCK-8法测定4T1与4T1/Gem细胞的增殖抑制率,计算耐药指数; Western blot法检测细胞P-gp蛋白表达;B超引导下注射4T1/Gem细胞悬液诱导裸鼠肝脏成瘤;HE染色观察肿瘤组织病理情况,免疫组化法检测瘤组织ER、PR、HER2、Ki-67和P-gp蛋白的表达。结果 经过14个月的诱导成功建立4T1/Gem细胞株,可在含40 μg/mL的Gem培养液中稳定生长。4T1/Gem细胞耐药指数为4T1细胞的788.547倍。与亲代相比,4T1/Gem处于G1期和G2期的细胞增加,S期细胞减少;上调P-gp蛋白的表达。4T1/Gem细胞成功建立裸鼠乳腺癌肝转移模型,瘤组织中ER、PR、HER2蛋白阴性表达,Ki-67阳性10％和P-gp蛋白阳性表达。结论 成功构建吉西他滨耐药乳腺癌细胞4T1耐药株并建立裸鼠乳腺癌肝转移模型,为开发治疗乳腺癌肝转移化疗耐药的药物提供实验基础。

Objective To construct a gemcitabine-resistant variant of the breast cancer cell line (4T1/Gem) and establish a nude mouse model of breast cancer with hepatic metastatic. Methods A gemcitabine-resistant variant of the breast cancer 4T1 cell line was induced by gradually increasing the concentration of gemcitabine; this variant is referred to in this study as 4T1/Gem. The proliferation suppression rates of 4T1 and 4T1/Gem cells were determined by using the CCK-8 essay to evaluate the drug resistance indices of the cell lines. Western blot analysis was used to detect P-gp protein expression. Under ultrasonography, a 4T1/Gem cell suspension was injected into nude mice to induce liver tumors. H&E staining was used to observe tumor pathology, and immunohistochemistry was used to detect the expression of ER, PR, HER-2, Ki-67, and P-gp. Results After 14 months of induction, a 4T1/Gem cell line is established successfully. The cell line can grow stably in culture liquid containing 40 μg/ml gemcitabine. The drug resistance index of 4T1/Gem is 788.547. Compared with the 4T1 cell line, the 4T1/Gem cell line can upregulate P-gp protein expression and successfully establish a nude mouse model of breast cancer with hepatic metastatic. ER, PR, and HER-2 proteins exhibit negative expression in the tumor tissue. The positive expression of P-gp and 10% of Ki-67 proteins is also observed. Conclusion This study successfully constructs a gemcitabine-resistant variant of the breast cancer cell line (4T1/Gem)and establishes a nude mouse model of breast cancer with hepatic metastatic, thereby providing an experimental basis for developing and treating a drug-resistant variant of breast cancer.

目的 探讨Sirius与A超对不同程度近视患者中央角膜厚度(CCT)的测量差异。方法 对225例(450眼)拟行角膜屈光手术的近视患者,按低、中、高度近视分三组,依次用Sirius和A超测量CCT。 测量结果行配对t检验、 Pearson相关及 Bland-Altman分析。结果 低、中、高度近视组中,Sirius所测CCT均数分别为(542.61±29.19)μm、(543.96±27.02)μm、(547.25±22.53)μm;A超CCT均数分别为(538.51±29.12)μm、(540.98±26.56)μm、(542.19±21.64)μm。不同近视组中,Sirius测量值均略大于A超值,且两者高度正相关,差异有统计学意义(P<0.05)。Bland-Altman分析,不同近视组中,两种仪器测量CCT的一致性较好。结论 Sirius在绝大多数情况下能够替代传统的A超角膜测厚仪,但对拟行激光手术的高度近视患者应该综合考虑两种仪器测量结果。

Objective To study the measurement differences of central corneal thickness(CCT) in different degree of myopia by Sirius and ultrasound pachymetry(UP). Methods 225 myopic subjects(450 eyes)were recruited and divided into three groups according to the degree of refractive errors. The CCT were obtained from the eyes for each subjects using the Sirius and UP. Data were compared by using paired t-tests and the Pearson correlations. Bland- Altman analysis of all pairs were determined. Results The mean CCT in low myopic group obtained from Sirius and UP were (542.61±29.19)μm and(538.51±29.12)μm,respectively. The mean CCT in medium myopic group by Sirius and UP were(543.96±27.02)μm and(540.98±26.56)μm.The measured mean CCT in high myopic group were(547.25±22.53)μm and(542.19±21.64)μm by Sirius and UP. The mean CCT measurements between the two instruments were high correlated and statistically different(P<0.05) in the three groups respectively. In different myopia groups Sirius has good coincidence with UP in measuring CCT according to the Bland-Altman plot. Conclusion In vast majority of cases,Sirius can replace traditional UP in measuring CCT. But for the preopreative examination of the high myopia patients, we need to think twice about the difference between the two measurements.

目的 了解2014年广州地区儿童专科医院的病原菌分布及耐药情况与全国细菌耐药监测网(CARSS)公布数据的异同点,并提出相关用药建议,为儿童临床合理应用抗生素提供科学依据。方法 将2014年本中心儿童院区检测的儿童细菌耐药数据与同期国家卫生计生委合理用药专家委员颁布的CARSS数据进行比较。结果 儿童医院与CARSS数据比较,革兰阳性菌比例较高(49.8% vs 28.5%),革兰阴性菌比例较低(50.2% vs 71.5%);肺炎链球菌、化脓性链球菌及流感嗜血杆菌检出率较高;耐药率明显升高的是肺炎链球菌对青霉素耐药率(33.2% vs 4.3％),耐药率明显降低的是鲍曼不动杆菌对碳青霉烯类耐药率(10.3% vs 57.0％),大肠埃希菌对喹诺酮类耐药率(27.6% vs 54.3％)。结论 广州地区儿童病原菌分布及耐药情况与CARSS数据比较有一定差异,特别是儿童主要致病菌肺炎链球菌对青霉素耐药的形势严峻,经验性抗感染治疗时需考虑本地及儿童的病原菌特殊性。

目的 对ChiTaS BSS1200血液核酸检测系统(简称“ChiTaS ”)主要分析性能进行验证,确定该系统是否稳定、准确、可靠。方法 参照美国临床实验室标准化协会(CLSI)相关文件要求,对在ChiTaS上开展的HBV-DNA、HCV-RNA、HIV-RNA项目进行检出限、精密度、准确度及抗干扰等方面验证。结果 ChiTaS 分析系统HBV-DNA、HCV-RNA、HIV-RNA最低检出限分别为3.63(3.16～6.26)IU/mL、12.71(10.37～21.63)U/mL、25.49(21.43～37.48)IU/mL;HBV-DNA、HCV-RNA、HIV-RNA阳性样本总变异系数分别为2.56%、1.03%、3.36%;22个阴性样本和10个阳性样本进行8混样模式检测结果为反应性,拆分检测结果:阳性样本符合率100%、阴性样本符合率100%;溶血血浆(血红蛋白含量为5 g/L)、脂肪血浆(甘油三酯大于6.3 mmol/L)对低浓度HBV(6.3 IU/mL)、HCV(23.3 IU/mL)、HIV(47.6 IU/mL)样本检出无显著影响。结论 ChiTaS检出限、精密度、准确度等均达到生产商的检测性能的要求,实验室该系统的检测能力可以满足本血站对无偿献血者样本的常规核酸检测要求。

目的 探讨45°半坐卧位对良性前列腺增生患者膀胱压力容积测定的影响。方法 按照入选标准和排除标准选取临床确诊为良性前列腺增生(Benign Prostatic Hyperplasia,BPH)患者。按照二阶段交叉设计的方法将入选患者随机分入A、B两组。A组患者先进行45°半坐卧位膀胱压力容积测定(Cystometry,CMG),再进行平卧位CMG,B组患者先进行平卧位CMG,再进行45°半坐卧位CMG。统计以下CMG参数:膀胱初始感觉容量、膀胱初始尿意容量、膀胱最大容量及逼尿肌过度活动发生率。结果 与平卧位相比,45°半坐卧位对膀胱初始感觉容量、膀胱初始尿意容量、膀胱最大容量的测定无影响,且能提高逼尿肌过度活动的检出率(45°半坐卧位37.21% vs.平卧位11.63%,P=0.006)。结论 45°半坐卧位能代替平卧位作为CMG的检查体位。

Objective To investigate influence of 45 degree semi-reclining position in cystometry in patients with benign prostatic hyPerplasia(BPH). Methods Patients with BPH were enrolled according to the inclusion and exclusion criteria. They were divided into two groups randomly by two stage cross-over design. Group A took the 45 degree semi-reclining position firstly then supine position, while group B used a reverse order.CMG parameters included volume of first sensation to void (FS), volume of first urge to void (FU), maximum cystometric capacity (MCC) and detrusor overactivity(DO). Results 45 degree semi-reclining position had no effect on volume of FS、volume of FU、MCC, and could increase the detection rate of DO(45 degree semi-reclining Position 37.21% vs. supine 11.63%,P=0.006). Conclusion 45 degree semi-reclining position may be used as a substitution for supine in FC.

目的 研究术中麻醉深度监测在全麻下行下腹部手术患者苏醒质量和护理工作应用。方法 选取择期全麻下行下腹部手术患者120例(ASAⅠ~Ⅱ级),随机分成NT组和NNT组,NT组患者(60)术中用Narcotrend监测,NNT组患者(60)术中不用Narcotrend监测。记录术中丙泊酚用量;记录术后气管导管拔管时间和麻醉恢复室(postanesthesia care unit, PACU)留观时间;记录恢复室Ricker镇静—躁动评分;记录恶心呕吐及术后谵妄的发生率。结果 NT组患者术中麻醉药物丙泊酚的用量比NNT组明显减少(P<0.05);NT组患者术后的拔管时间与PACU留观时间比NNT明显缩短(P<0.05);NT组患者术后的Ricker 镇静-躁动评分比NNT明显降低(P<0.05);NT组患者与NNT组术后恶心呕吐及术后谵妄发生率无明显差别。NT组比NNT组降低了护理工作量(P<0.05)。结论 在麻醉深度监测仪Narcotrend下行下腹部手术,通过有效的麻醉深度监测,可以改善患者术后的苏醒质量,这些有利于减少PACU护理工作量,提高了护理质量,也有助于PACU护理规范化。

Objective To investigate the effect of anesthesia depth monitoring on the recovery quality and nursing quality of patients treated with lower abdominal surgery under general anesthesia. Methods A total of 120 patients who underwent the lower abdominal surgeries from June 2015 to December 2015 were randomly divided into 2 groups: non-Narcotrend monitoring group (non NT group) and Narcotrend monitoring group (NT group). And each group contains 60 cases. All patients were set in the same induce plan, and maintained by propofol-fentanyl during the operation. The dosage of propofol, the time of tracheal extubation, the PACU staying time, the Ricker sedation-agitation scale, the incidence of PONV and POD, the nursing quality and nursing working load were recorded in the project. Results Using Narcotrend to monitor the anesthesia depth could significantly decrease the dosage of propofol (P<0.05). The tracheal extubation time and the PACU staying time of patients in NT group were much shortened than patients in non NT group (P<0.05). In NT group the Ricker scores of patients were much lower than patients in non NT group (P<0.05). And the effective anesthesia depth monitoring using Narcotrend could significantly decrease the nursing working load and improve the nursing quality (P<0.05). Conclusion Effective anesthesia depth monitoring using Narcotrend may improve the recovery quality in the PACU, which may decrease the working load of nurses and improve the nursing quality in PACU.