目的 通过检测结直肠癌患者血清及组织中癌胚抗原(CEA)及β₂微球蛋白(β₂MG)的表达,探讨结合两者在结直肠癌诊断中的作用。方法 对30例结直肠癌患者的血清、癌组织和癌旁组织进行CEA及β₂MG检测,设置对照组为行肠镜检查的正常健康体检者30例。分别对比CEA及β₂MG在结直肠癌中的关系,进一步对比CEA及β₂MG两者在结直肠癌在结直肠癌患者中的肿瘤大小、分期、浸润深度及转移的关系。 同时对结直肠癌及健康体检者的一般情况如性别、年龄、CEA、β₂MG、血红蛋白及白蛋白进行对比,以进一步了解CEA及β₂MG 在结直肠癌中的重要性。结果 CEA在结直肠癌患者癌组织、癌旁组织及血清中升高的比例为100%、10%、47%;β₂MG在结直肠癌患者癌组织、癌旁组织及血清升高的比例为60%、57%、23%;联合血清中CEA及β₂MG升高的比例为63%;正常对照组中的CEA升高的比例为33%,β₂MG升高的比例为67%;无论CEA还是β₂MG在结直肠癌中均有一定比例的升高,联合两者升高更明显。结论 CEA及β₂MG是恶性肿瘤特别是结直肠癌的重要指标,联合两者的检测提高结直肠癌的早期诊断。

Objective To detect the expression of carcinoembryonic antigen and β₂ microglobulin in serum and tissue of patients with colorectal cancer, and to explore their roles in the diagnosis of colorectal cancer. Methods 30 patients with colorectal cancer were examined for CEA and β₂MG in serum, cancer and para-cancer tissues, and 30 healthy persons with normal colonoscopy were selected as the control group. The expressions of CEA and β₂MG in serum and tissues were compared, and the relationship between CEA and β₂MG and tumor size, stage, depth of invasion and metastasis were analyzed. Results The increased in proportion of CEA in cancer tissue、para-carcinoma tissue and serum of colorectal cancer was 100%、10%、47%; Similarly, the increased in proportion of β₂MG was 60%、57%、23%;Combined calculation the increased in proportion ofCEA and β₂MG in serum of colorectal cancer was 63%;In the normal control, the increased in proportion of CEA was 33%;The increased in proportion of β₂MG was 67%.Both CEA and β₂MG in colorectal cancer had a certain proportion, the rise of joint both was obviously more. Conclusion CEA and β₂MG are important markers of malignancy, especially colorectal cancer. Combined detection of CEA and β₂MG can improve the early diagnosis of colorectal cancer.

目的 研究EGFR基因突变与系列肿瘤标志物在160例原发性肺癌患者及51例肺部良性占位病变患者中的表达状况,为肺部占位病变的诊断、鉴别诊断和治疗提供参考依据。方法 160例肺癌患者取新鲜病理组织标本,采用扩增阻滞突变系统荧光PCR(ARMS-PCR)技术检测EGER基因突变;160例肺癌患者和51例良性占位病变患者取外周静脉血用化学发光法检测系列肿瘤标志物,用χ²检验统计分析数据。结果 160例肺癌病例中,EGFR基因野生型比率为47.56%(78/164),EGFR基因突变型比率为52.44%(86/164),突变型中21L858R点突变占23.17%(38/164),19Del缺失突变占22.56%(37/164)。肺癌组中系列肿瘤标志物较良性占位组具显著高表达,P＜0.01。差异有统计学意义。结论 肺癌致病与EGFR基因突变、肿瘤标志物高表达有显著正相关,通过肿瘤标志物和EGFR基因突变检测,结合影像学检查,将有助于肺部占位病变诊断和鉴别诊断,并为治疗手段选择提供参考依据。

Objective To research EGFR gene mutation and series of tumor markers expression in 160 patients with primary lung cancer and 51 patients with lung benign placeholder lesions, provide some references for the diagnosis, differential diagnosis and treatment in lung placeholder lesions. Methods We took fresh pathological tissue specimens from 160 cases of patients with lung cancer, Then used ARMS PCR technique to detect EGER gene mutations. We took the peripheral venous blood in 160 patients with lung cancer and 51 patients with lung benign placeholder lesions, with chemiluminescence method to detect series of tumor markers,and used thechi-square test to statistic and analysis data. Results In 160 cases of lung cancer patients,The EGFR gene wild type rate was 47.56%(78/164).The EGFR gene mutation type rate was 52.44%(86/164).In EGFR gene mutation type,The proportion of 21L858R mutation was 23.17%(38/164),19del mutation was 22.56%(37/164). Series of tumor markers had significantly higher expression in lung cancer group than in benign placeholder lesions group. P＜0.01.The difference was statistically significant. Conclusion Lung cancer pathogenesis and EGFR gene mutations, tumor markers high expression was significantly positive correlation. Through a series of tumor markers and EGFR mutation testing, combined with imaging examination, it will contribute to the diagnosis and differential diagnosis in lung placeholder lesions, and provide the basis for treatment.

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 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 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 探讨血浆凝血酶原时间(prothrombin time,PT)和血清蛋白(albumin,Alb)检测在腹内高压(IAH)患者中的临床意义。方法 选取IAH患者30例,另取30例健康者作为对照组,分别检测检验指标PT和ALB。PT检测应用凝固酶法,Alb检测应用溴甲酚绿法。结果 IAH患者组PT、PTR高于对照组,差异有统计学意义(P＜0.05),患者组PTA、Alb低于对照组,差异有统计学意义(P＜0.05)。结论 IAH可引起凝血功能障碍及蛋白丢失,PT和Alb的检测有助于了解IAH患者的病情。

Objective To detect the significance of plasma prothrombin time(PT)and serum albumin(Alb)in patients with intra-abdominal hypertension(IAH). Methods Selected 30 patients with IAH,another 30 healthy persons as control group,were dectected PT and ALB.Coagulase method was used to dectect PT,bromocresol green method was used to dectect ALB. Results PT and PTR in IAH group were significantly higher than those in control group,the difference was statistically significant(P＜0.05),PTA and ALB in IAH group were significantly lower than those in control group,the difference was statistically significant(P＜0.05). Conclusion IAH may cause coagulation dysfunction and loss of protein,detection of PT and Alb is helpful to the understanding of the disease in patients with IAH.

凝血功能障碍是围术期临床关注的重点,评价方式较多,其中血栓弹力图(TEG)可根据凝血过程中血凝块的黏弹性变化所描绘出的图像,反映全血的凝血和纤溶能力,其结果快速准确,被广泛应用围术期凝血功能监测。

Coagulopathy is a key concern around operation period.Thromboelastography (TEG) is in the process of image based on viscoelastic changes of coagulation of blood clots depicted, to reflect the blood coagulation and fibrinolytic capacity. TEG test result is quickly and accurately, therefore it is widely used in the perioperative monitoring of blood coagulation function, blood transfusion guide, hypercoagulation monitoring, prevention of thrombosis.

目的 了解佛山市南海区性传播疾病(STD)门诊病人单纯疱疹病毒感染的流行情况。方法 对2013年1月—2014年6月间前往佛山市南海区3个规范化性病门诊就诊的患者进行问卷调查、生殖器疱疹临床诊断和单纯疱疹病毒分类抗体检测、分泌物实时荧光定量聚合酶链反应(FQ-PCR)检测。结果 350例疑似生殖器疱疹患者中,HSV-I的IgM 和IgG的检出率分别是5.4%(19/350)和87.7%　(307/350),HSV-II的IgM 和IgG检出率分别是2.9%(10/350)和42%(147/350),两种血清型中以HSV-I感染为主,且IgG 阳性率高于IgM(HSV-I的χ²=238.1,P＜0.005;HSV-II的χ²=259.08,P＜0.005);HSV-ⅡIgG感染者147例(男115例,女32例),感染率分别为41.2% 和42.7%。男性HSV-ⅡDNA感染率高于女性,二者差异有统计学意义(χ²=3.94,P＜0.05)。结论 本地区性病门诊中HSV抗体检出率高,以HSV-I感染为主;对于疑似生殖器疱疹患者,同时进行HSV抗原及血清HSV-I、HSV-II的 IgM和 IgG抗体联合检测更有助于临床GH诊断;男性患者易于临床诊断。

Objective To investigate the epidemiological characteristics of herpes simplex virus infection in patients attending a sexually transmitted diseases(STD)clinic in Nanhai District of Foshan. Methods The 350 patients attending the three standardized STD clinic in Nanhai District of Foshan from January,2013 to June,2014 were interviewed with an anonymous questionnaire,blood-tested for HSV(IgM、IgG) antibody.And secretion was detected by FQ-PCR for HSV antigen. Results In 350 patients with suspected GH,the positive rate of HSV-I IgM and IgG were 5.4%(19/350)and 87.7%(307/350).The positive rate of HSV-II IgM and IgG were 2.9%(10/350)and 42%(147/350),respectively.HSV-I infection was principal in two serologic types,and the positive rate of IgG was higher than that of IgM (P<0.05).There were 147 patients infected HSV-II IgG(male 115,female 32).The infection rate is 41.2% and 42.7%.The infection rate of HSV-ⅡDNA in men was higher than that in women.There was a significant difference between them(P<0.05). Conclusion There was a high positive detection rate of HSV from sexually transmitted disease clinic in this region.And HSV-1 was principal.For patients with suspected genital herpes,detection of HSV antigen tests combined with HSV-I、HSV-II IgM and IgG serum antibody tests is more helpful in the clinical diagnosis of genital herpe.HSV infected men patients were likely to clinically diagnose.

目的 分析过敏性疾病儿童过敏原的种类和特点。方法 采用国产欧博克试剂盒(酶联免疫法)对174例过敏性疾病患儿进行食物及吸入性过敏原特异性IgE(SIgE)检测,比较≤3岁和＞3岁两组患儿SIgE阳性率。结果 过敏性疾病患儿SIgE检测阳性率达72.99%(127/174),排名前2位的是:屋尘螨/粉尘螨(39.66%,69/174)、屋尘(26.44%,46/174)。≤3岁组食物性过敏原阳性率33.93%(19/56),吸入性过敏原阳性率44.64%(25/56),＞3岁组食物性过敏原阳性率41.53%(49/118),吸入性过敏原阳性率61.02%(72/118);127例阳性病例中, 96例对≥2种过敏原呈阳性反应, 69例SIgE等级≥3,＞3岁组混合过敏率及高度过敏率高于≤3岁组。结论 广州地区过敏性疾病儿童以吸入性过敏为主,主要过敏原是屋尘螨/粉尘螨、屋尘,随着年龄增长,吸入性过敏原阳性率升高,混合过敏的机率增加。建议对过敏疾病患儿进行过敏原检测,以制定相应环境干预措施及特异性脱敏治疗方案。

Objective To inverstigate the types and characteristics of allergen in children in different age with allergic diseases. Methods The food and inhalant allergen-specifi IgE(SIgE) were detected by the domestic specific IgE Screening ELISA kit in 174 children with allergic diseases,and were compared among children aged ≤3 and ＞3 years. Results 72.99%(127/174) of children with allergic diseases were positive for SIgE,the common allergen were dermatophagoides pteronyssinus/dermatophagoides farina and dust. In the group of ≤3 years old,the positives rate of food allergens was 33.93%(19/56),and the positives rate of aeroallergens was 44.65%(25/56).In the group of >3 years old, the positives rate of food allergens was 41.53%(49/118), the positives rate of aeroallergens was 61.02%(72/118).96 of 127(75.59%) positive cases yielded positive result to more than 2 allergens.69 patients's SIgE levels greater were ≥ 3,the mixed allergic rate and highly allergic rate of the children aged ＞3 years were higher than the children aged ≤3 years. Conclusion The children with allergic diseases in Guangzhou area were allergic mainly to inhalant allergens,especially to dermatophagoides pteronyssinus/dermatophagoides farina and dust.Aeroallergens are becoming the allergens as children grow with ages, and probability of mixture allergy is increasing.