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简介：摘要目的探讨1例Bweak亚型个体的分子机制。方法选取2016年12月5日于浙江省血液中心献血的1例受试者为研究对象。利用血清学方法鉴定受试者的ABO表型，用体外酶活性试验测定其血清中B糖基转移酶(GTB)的活性。用PCR扩增ABO基因第5 ~ 7外显子及侧翼序列并确定其基因型，采用T-A克隆技术分离单倍体并进行测序验证。用ProtParam和PSIPRED软件分析蛋白的一级理化性质和二级结构。用PolyPhen-2、SIFT、PROVEAN三种软件分析错义变异对蛋白的作用效应。结果受试者血清学检测为Bweak亚型，血清中存在抗B抗体。体外酶活性试验显示其GTB活性显著降低。单倍体克隆测序分析发现B等位基因上存在c.398T>C错义变异，为一个新的B等位基因，可导致GTB第133位的苯丙氨酸替换为丝氨酸(p.Phe133Ser)。生物信息学分析提示上述替换对蛋白的一级和二级结构影响不明显，但变异蛋白的热力学能量增加6.07 kcal/mol，严重降低了热稳定性，生物信息学预测该变异对蛋白功能有害。结论新等位基因ABO*B.01-398C是引起Bweak亚型抗原弱表达的机制，生物信息学分析有助于评估其结构和功能的变化。

简介：目的探讨不同模拟体液对HA涂层体外生物学行为的影响.方法采用等离子体喷涂法,在碳/碳复合材料表面制备HA涂层,并对涂层进行了热处理.利用X射线衍射仪(X-raydiffraction)、扫描电子显微镜(Scanningelectronmicroscopy)等检测手段,分析该涂层的物相和形貌,观察HA涂层在模拟体液中的影响.结果XRD检测结果表明,在模拟体液浸泡过程中,涂层的主要组成相的相对含量和结晶度不断发生变化.由SEM分析结果可知,在浸泡过程中,内送粉方式下制得的HA涂层的表面沉积物呈现近似网状的结构.同时,在Ringer溶液中,可以观察到HA涂层溶解痕迹.结论通过适当的热处理可以恢复HA的结构完整性,同时提高涂层的结晶度.

简介：摘要目的探讨血清中ApoAⅠ与HDL-C以及ApoB与LDL-C之间的的相关性。方法选取我院收治的34例高脂血症患者作为为观察组，以同期体检的健康成人35例作为对照组。分别检测甘油三酯、总胆固醇、高密度脂蛋白胆固醇和低密度脂蛋白胆固醇、载脂蛋白AⅠ与载脂蛋白B，然后通过统计学方法比较指标间的相关性。结果对照组ApoAⅠ与HDL-C以及ApoB与LDL-C之间均呈中等相关性，实验组ApoAⅠ与HDL-C呈中等相关性，ApoB与LDL-C之间存在显著相关性。结论载脂蛋白AⅠ与高密度脂蛋白具有相关性，载脂蛋白B与低密度脂蛋白同样具有相关性。

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简介：摘要目的对1例智力障碍患者的 TRIP12基因进行变异分析，明确其致病原因。方法应用全外显子测序及Sanger测序验证，并对其家系成员进行验证。结果测序结果显示先证者 TRIP12基因存在c.40C>T(p.Arg14X)杂合无义变异，其父母该位点未检测到变异，为新发变异(de novo)，查阅人类基因变异数据库未见该变异类型报道。根据美国医学遗传学及基因组学学会遗传变异解读指南，c.40C>T变异判定为致病性变异(PVS1＋PS2＋PP3)。结论这例患者为 TRIP12基因c.40C>T杂合变异导致的常染色体显性遗传智力障碍。

简介：摘要目的探讨肝硬化合并肝癌及单纯肝癌患者不同child分级时补体C3、C4的表达意义。方法选取肝癌患者121例，健康对照组37例，均测定补体C3、C4含量。将肝癌患者分为肝硬化合并肝癌组及单纯肝癌组，并根据Child评分分级分组，比较两组间C3、C4水平的差异。结果1肝癌两组中随着Child分级由A级至C级变化血清补体C3水平逐渐降低，而补体C4水平则逐渐升高。2组间比较A级、B级时单纯肝癌组补体C3、C4水平均高于肝硬化合并肝癌组。单纯肝癌组与对照组比较差异同样有显著性。结论血清补体C3、C4与肝功能损伤严重程度相关，结合Child分级可更好地反映肝癌及肝硬化合并肝癌时肝脏储备功能及体液免疫水平，对临床诊治有重要意义。

简介：AbstractBackground:Aberrant activation of the complement system plays an important role in the pathogenesis and development of immunoglobulin A nephropathy (IgAN). The relationship between serum complement and the clinical-histopathological features and outcomes of IgAN is controversial. This retrospective study aimed to examine the relationship between the complement 3/4 (C3/C4) ratio and the clinicopathologic changes and prognosis of patients with IgAN.Methods:A total of 397 patients with primary IgAN from January 2007 to December 2012 at the Chinese People’s Liberation Army General Hospital were included in this study. The correlation test and Chi-square test or one-way analysis of variance test were performed to evaluate the relationship between the C3/C4 ratio and other clinical-pathological factors. Propensity score matching and a multivariate Cox regression model were used to calculate the risk factors of renal outcome.Results:The median follow-up period was 75 months. During the follow-up period, 62 patients (15.6%) developed into the end-stage renal disease (ESRD). The C3/C4 ratio at baseline was associated with the level of serum creatinine (SCr), 24 h urinary protein excretion (24 h Upre), global glomerular sclerosis, and tubulointerstitial lesion. The level of SCr and 24 h Upre and the degree of chronic kidney injury were statistically different among groups defined by different C3/C4 ratio levels. The survival rates of patients among groups with different C3/C4 ratio levels were different. After propensity score matching, eighty-eight pairs of patients were successfully matched, and the C3/C4 ratio was an influencing factor for the patients’ outcome (hazard ratio 0.587, 95% confidence interval 0.329-0.880). Patients with a C3/C4 ratio <3.6 had a poorer outcome compared with the others (P = 0.002).Conclusions:IgAN patients with decreased C3/C4 ratio displayed significantly more severe clinical symptoms and chronic renal injury than patients with higher ratios. A low C3/C4 ratio could be a risk factor for patients developing to ESRD.

简介：目的：观察小鼠不同程度缺氧适应对缺血缺氧脑即早基因c-fos和c-jun基因表达的影响。方法：采用链霉素亲生物素-过氧化酶(简称S-P)免疫组化技术。采用两种不同程度的缺氧预处理：①小鼠第一次缺氧开始到喘呼吸出现后，行第二次缺氧，定为B1组(此时瓶内的氧浓度为15％)；②小鼠第一次缺氧开始到瓶内的氧浓度降低为10％后，行第二次缺氧，定为B2组。结果：B2组的低氧存活时间明显长于B1组；缺血缺氧后30minc-fos和c-jun基因阳性细胞呈低密度分布，1hc-fos基因表达下降，12h则基本消失，阳性细胞呈散在分布。c-jun基因的表达高峰在缺血缺氧3h、12h时，c-jun基因阳性细胞仍呈低密度分布；缺氧适应使缺血缺氧脑增加的c-fos基因的阳性细胞数减少，而使缺血缺氧脑增加的c-jun基因的阳性细胞进一步增加，B1组和B2组缺血缺氧脑基因表达的影响无差异，结论：缺血缺氧可诱发中枢神经系统c-fos、c-jun基因表达．且有时间依赖性；缺氧适应可抑制缺血缺氧脑c-fos基因的表达，增强缺血缺氧脑c-jun基因的表达。

简介：AbstractObjectives:To investigate the prevalence of ACADM pathogenic variants, c.985A>G and c.199T>C, for medium chain acyl CoA dehydrogenase deficiency (MCADD) in a healthy population in the southern region of Brazil.Methods:This was an observational cross-sectional study with a convenience sampling strategy. The participants were recruited from the blood bank of the Hospital de Clínicas of Porto Alegre, Brazil. A total of 1000 healthy individuals from the state of Rio Grande do Sul were included. Genotyping for the c.199T>C and c.985A>G variants was performed using real-time polymerase chain reaction (PCR) and the PCR-restriction fragment length polymorphism (RFLP) technique, respectively. Individuals considered heterozygous for c.985A>G were subjected to additional acylcarnitine profile analysis using tandem mass spectrometry. Carrier frequency was obtained by calculating the ratio of heterozygous individuals to the total number of individuals analyzed and reported with a 95% confidence interval. Allele and genotype frequencies were calculated based on the Hardy-Weinberg equilibrium.Results:The c.985A>G variant was detected as heterozygotes in three individuals (frequency of the heterozygous genotype = 1:333, allele frequency= 0.0015, minimum frequency of MCADD= 1:444,444) whose acylcarnitine profiles were within normal limits. The c.199T>C variant was not identified.Conclusions:Considering the small sample size and associated allelic heterogeneity with MCADD, these findings are believed to denote the rarity or underdiagnosis of MCADD in southern Brazil. This study provides evidence for the need for further investigation to ascertain the contribution of these diseases to child morbidity and mortality in the country.

简介：冠心病的病理基础是冠状动脉内粥样硬化斑块破裂、迅速进展以及在此基础上的血栓形成。越来越多的研究表明。冠心病是一种慢性炎症性疾病过程，局部及全身的炎症在动脉粥样硬化及其并发症的发生、发展过程中起着重要作用。粥样硬化斑块的稳定性与冠状动脉内膜炎症的发展高度相关，斑块内的炎症反应可能是造成斑块不稳定和破裂的关键因素。

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简介：摘要目的慢性牙周炎（chronicperiodontitis，CP）是我国成年人丧失牙齿的主要原因。C-反应蛋白(C-reactiveprotein,CRP)作为一种炎症反应标志物,在牙周炎的发生发展过程中发挥重要作用。方法采集牙周炎患者和正常对照者的血清标本，检测CRP浓度。结果我们的结果显示，牙周炎患者外周血液中CRP较正常对照组显著增高，其差异有统计学意义。进一步分析发现，CRP的水平高低与牙周炎患者病情严重程度有关，病情越严重，CRP的浓度越高。结论牙周炎患者外周血液中存在高水平CRP，且其水平高低与病情轻重关系密切，因此，监测牙周炎患者外周血液CRP水平，可为判断牙周炎患者病情及预后提供新的指标。

简介：美国芝加哥大学的研究人员通过实验发现,虾等软壳类食物含有浓度较高的-五钾砷化合物。这种物质食入体内,本身对人体并无毒害作用,但是在服用维

简介：摘要2型糖尿病是一种缓进性疾病，其发病中心环节是胰岛素抵抗和β细胞功能缺陷。胰腺是产生胰岛素维持糖代谢的主要器官，研究发现c-Kit与胰腺密切相关，提示c-Kit可能在糖尿病发展中起着重要作用，文章就此予以综述。

简介：最近，英国的一项最新研究表明，血液中的维生素C浓度呈高状态时，人罹患脑卒中的风险会降低。不过，专家特别提醒民众，这并不是说大量摄取营养补助食品维生素C，就能预防脑卒中。

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简介：摘要目的了解C-反应蛋白的检测及其在临床疾病诊断中所起的作用。方法本实验选取实验组和对照组进行对比的方法，实验组为来我院诊治的患病患者60例，对照组是经过体检各项指标正常的体检人员60名，分别对他们的血进行C-反应蛋白检测。结果对比两组的实验结果，实验组检测的C-反应蛋白值升高达96%以上，而对照组检测的C-反应蛋白值升高的不足3%。结论C-反应蛋白值的检测对疾病初期的检测具有重要的指导意义，值得临床大面积推广。

简介：我刚患糖尿病不久，我想问一下专家。什么叫C-肽，请介绍一下检查C-肽的原理，它代表了什么，正常值是多少。异常又说明了什么？