新产程模式下剖宫产和产钳术对持续性枕后位难产孕妇分娩结局的评估

目的：探索新产程模式下剖宫产和产钳术对持续性枕后位难产孕妇分娩结局的评估。方法:收集2017年至2020年间于浙江省湖州市妇幼保健院收住入院的103例持续性枕后位难产孕妇, 其中以产钳分娩的60例孕妇为研究组，53例以剖宫产术分娩的孕妇为对照组，评估其分娩结局，分析两种分娩方式对孕产妇的影响。采用χ2 检验比较剖宫产及产钳分娩两组的新生儿窒息、产后出血、产时、产后感染、软产道裂伤（包括会阴III度裂伤、阴道裂伤、宫颈裂伤）、切口预后不良的差异。结果：研究组产后出血、产时发热、产后发热发生率[分别为1.66%（1/60）、1.66%（1/60）、3.33%(2/60），χ2 值分别为（4.514 和5.698、4.826，P值分别为 0.040 和 0.020、0.030）]，明显低于对照组[分别为11.32%（6/53）、13.20%（7/53）、15.09%(8/53）]，但是研究组会阴III度裂伤、宫颈裂伤、阴道裂伤、发生率为分别为[15.00%（9/60）、13.33%（8/60））、（11.66%（7/60）），明显高于对照组（1.88%（1/53）、1.88%（1/53）、3.77%（2/53））]，差异有统计学意义（P值均＜0.05）。但研究组的新生儿窒息发生率及切口预后不良的比例分别为[5（8.33%）、4（6.66%）]，略低于对照组[（6（11.32%）、4（7.54%）]，差异无统计学意义（χ2值分别为0.286、0.233，P 值均＞0.05）。结论：新产程标准下持续性枕后位难产孕妇选择产钳分娩可明显降低产时、产后感染及产后出血的发生率，但软产道裂伤发生率较高，差异有统计学意义。所以持续性枕后位难产孕妇选择产钳分娩是相对比较安全的分娩方式，但同时需要注意软产道裂伤的发生。     

一对大前庭导水管综合征育龄夫妇的遗传咨询研究

目的：对1对大前庭导水管综合征育龄夫妇进行SLC26A4基因突变位点分析,研究其突变形式和突变类型,探讨其后代发病风险,指导生育。方法：收集1对大前庭导水管综合征夫妇的临床资料及血样,提取基因组DNA,基于目标区域捕获测序技术检测耳聋基因相关突变。应用高通量测序数据分析流程,利用OMIM等多个临床疾病数据库及CADD等多个有害性预测软件对数据进行生物信息学分析、比对。结果：测序结果提示男方为SLC26A4基因c.230A>T、c.1174A>T和c.1547dupC的复合杂合突变,女方为SLC26A4基因c.919-2A>G和c.1547dupC的复合杂合突变。结论：夫妻双方皆为SLC26A4基因的复合杂合突变,生育大前庭水管综合征患儿的风险为100%,可采取不生育、领养、供精或供卵形式获取健康后代,本研究结果对于该家庭的生育后代有指导意义。     

CFP21-ELISPOT方法的建立及其在结核分枝杆菌感染诊断中的应用

目的用酶联免疫斑点试验(enzyme-linked immunospot assay,ELISPOT)评价检测CFP21蛋白在结核分枝杆菌感染中的诊断效果,同时,比较CFP21、CFP10和ESAT6的应用价值。方法取28例临床确诊结核患者和26例健康志愿者外周血,分离单个核细胞(peripheral blood mononuclear cells,PBMCs),用CFP21、CFP10和ESAT6蛋白刺激,定量检测PBMC分泌的特异性γ干扰素(IFN-γ)水平,判断结核分枝杆菌感染情况。用ELISA检测血清抗结核抗体。结果 ELISA检测结核病患者血清结核抗体阳性率为57.1%;以CFP21、CFP10和ESAT6为抗原,用ELISPOT方法检测结核病患者IFN-γ阳性率分别为25.0%、39.3%和32.1%。结论应用CFP21蛋白作为抗原建立的ELISPOT方法有潜在的临床应用价值,但CFP21作为抗原用于结核分枝杆菌感染诊断的敏感性低于CFP10和ESAT6。     

Observation of the density and size of cells in hippocampus and vascular lesion in thalamus of GFAP-apoE transgenic mice

Objective  Apolipoprotein E (apoE) is associated with increased risk of age-related diseases, such as Alzheimer’s disease (AD) and cerebrovascular disease (CVD). The present study aims to investigate the age-related general morphological changes of the brain in GFAP-apoE transgenic mice, especially the alterations in number and size of hippocampal pyramidal cells and the microvascular lesions in the thalamus. Methods  Nine female apoE4/4 mice were divided into 3 groups (n=3 in each group): 3–4 months (young group), 9–10 months (middle-aged group) and 20–21 months (old group). Age-matched apoE3/3 mice were employed as control group (n=3 in each group). The paraffin sections of brain tissue were stained by 2 conventional staining methods, thionin staining and hematoxylin-esion(HE) staining, the former of which was to observe the hippocampal cells, while the latter was used to examine the brain microvasculature. Results  There was no apparent difference in the cortical layer between apoE3/3 and apoE4/4 mice, neither any significant difference in the number of cells in hippocampal CA1–CA3 subfields between apoE3/3 and apoE4/4 mice at various age points (P > 0.05). However, the mean size of pyramidal cells in CA1 subfield in apoE3/3 and apoE4/4 mice decreased as mice were getting older (P < 0.001). At the age of 20–21 months, this cellular atrophy in apoE4/4 mice was more severe than that in old apoE3/3 mice (P < 0.05). Furthermore, microvascular lesion in the thalamus was detected in all the 3 old apoE4/4 mice, at varying degrees (5.24%, 1.41% and 3.97%, respectively), while only one apoE3/3 mouse exhibited microvascular lesion in the thalamus, at a low level (0.85%). Conclusion  The current study suggests that the cell size in hippocampal CA1 subfield decreases with aging, irrespective of apoE genotype. Cellular atrophy in CA1 subfield and the microvascular lesion in the thalamus are both more severe in old apoE4/4 mice as compared with those in age-matched apoE3/3 mice. Doubts still exist on whether the decreased cell size in hippocampal CA1 subfield in old apoE4/4 mice is associated with dysfunction in learning and memory and whether the microvascular lesions indicate a higher risk of stroke in human apoE4 allele mice. To clarify these issues, further investigations are needed.      

一例骨骼发育异常胎儿ALPL基因的遗传学分析

低磷酸酯酶症(hypophosphatasia,HPP)是一种由于编码组织非特异性碱性磷酸酶(tissue non-specific alkaline phosphatase,TNSALP)的碱性磷酸酯酶基因(alkaline phosphatase gene,ALPL)变异导致的罕见常染色体显性或隐性遗传病,临床表现主要是骨骼和牙齿矿化不全以及血清碱性磷酸酶(ALP)活性偏低[1]。     

CpG-ODN及PolyICLC在结核亚单位疫苗中的佐剂效应

目的观察TLR识别配体不同组合佐剂对结核分枝杆菌融合蛋白免疫原性的影响及DDA对TLR识别配体的辅助效应。方法 CpG-ODN(CpG)和/或PolyICLC联合/不联合DDA,分别与融合蛋白Mtb10.4-HspX(MH)混合,制备亚单位疫苗,于第1、4、7周皮下免疫C57BL/6小鼠。以PBS和BCG(仅免疫1次)作为对照。末次免疫后6周,采血检测血清抗体水平,并分离脾淋巴细胞,检测分泌IFN-γ的淋巴细胞水平。结果经MH及HspX抗原刺激后,MH+CpG+PolyICLC+DDA组小鼠分泌IFN-γ的脾淋巴细胞数高于其它各组(P<0.05),MH+CpG+PolyICLC组其次,显著高于MH+CpG及MH+PolyICLC组(P<0.05);联合DDA佐剂组均分别高于对应的未联合DDA佐剂组(P<0.05)。各亚单位疫苗组诱导产生的抗MH及HspX的IgG1、IgG2b、IgG2c水平均明显高于BCG组(P<0.05),其中MH+CpG+PolyICLC+DDA组3种抗体水平最高;各亚单位疫苗组IgG2c/IgG1均高于BCG组(P<0.05)。结论 CpG+PolyICLC+DDA佐剂增强了结核分枝杆菌融合蛋白的免疫原性;CpG和PolyICLC具有佐剂协同作用;DDA有助于CpG和/或PolyICLC诱导特异性细胞免疫应答。     

痰菌阳性肺结核患者血中IL-10的表达及意义

目的探讨白细胞介素-10(IL-10)在痰菌阳性肺结核患者血浆中的表达水平及其意义。方法ELISA检测肺结核患者18例(初治组11例、复治组7例)、健康体检者18例血浆中IL-10的水平。结果血浆中IL-10水平在肺结核患者组为(13.34±3.66)pg/mL,肺结核初治组为(13.55±3.40)pg/mL,肺结核复治组为(15.58±3.60)pg/mL,均显著高于健康对照组的(8.58±3.04)pg/mL(P<0.01)。结论肺结核患者血浆中IL-10的水平升高,参与结核病的损伤过程与进展。     

344例超声异常胎儿全基因组拷贝数变异分析

目的分析在全基因组水平胎儿超声异常表型与染色体拷贝数变异(CNVs)的相关性。方法收集2019年7月—2021年1月共计344例孕妇,经胎儿系统超声提示异常,且自愿接受胎儿全基因组CNVs检测。在传统的染色体核型分析基础上,对胎儿样本进行染色体微阵列分析(CMA)。结果344例超声异常胎儿中,有结构异常胎儿223例,占64.83%,确诊染色体非整倍体变异20例,发现27例存在CNVs,检出变异CNVs 29个;有非结构异常胎儿121例,占35.17%,确诊染色体非整倍体变异共13例,发现5例存在CNVs,检出变异CNVs 6个。结论胎儿超声异常表型发生时,应采用全基因组CNVs补充检测,以降低缺陷儿出生率,尤其针对结构异常胎儿,全基因组CNVs检测可发挥较高的补充检测价值。