基因组拷贝数变异测序用于高危妊娠胎儿产前诊断的临床价值评估

目的应用基因组拷贝数变异测序技术对高危妊娠胎儿进行遗传学检测,分析其在产前诊断中的临床价值。方法对于2018年1月至12月就诊于安徽医科大学第一附属医院妇产科有产前诊断指征的孕妇,根据其不同孕周行羊膜腔穿刺或脐血管穿刺术,样本送检染色体核型分析,同时行低深度全基因组拷贝数变异测序(CNV-seq)检测染色体数目和拷贝数。结果在455例羊水和脐血标本核型分析中共检出染色体非整倍体17例(3.7%)、微重复2例(0.4%)、微缺失2例(0.4%)、嵌合体1例(0.2%)。CNV-seq共检测出17例非整倍体(3.7%),致病性异常的微重复4例(0.9%)、可能致病性异常的微重复4例(0.9%)、致病性异常的微缺失5例(1.1%)、可能致病性异常的微缺失6例(1.3%)、致病性异常的微重复合并缺失3例(0.7%)。嵌合体共3例(0.7%)。结论 CNV-seq无法直接辨别染色体易位、倒位;对于标准型非整倍体异常,染色体核型分析和CNV-seq均可检测出,CNV-seq耗时更短;CNV-seq可分析出低比例嵌合体,检出率优于染色体核型分析;CNV-seq在检测染色体微缺失/重复方面较核型分析有独特的价值,能提高染色体异常的检出率,对产前咨询起重要作用;CNV-seq分析结果的不确定性也增加了临床遗传咨询的难度,需结合多种产前诊断方法综合评估。     

富含植物雌激素食物摄入与女生青春期发育关系

目的探讨富含植物雌激素(PEs)食物的摄入与女生青春期发育之间的关联。方法于2014年11月—2015年5月,采用方便抽样方法,选取沈阳、郑州、重庆和广州市共8所中学在校初一、初二年级1 601名女生为研究对象,对其进行问卷调查、体格和青春期发育评估。结果 1 601名女生中有232人乳房发育提前,检出率为14.5%,219人乳房发育延迟,检出率为13.7%;不同年龄、父母文化程度、体质指数(BMI)、膳食摄入豆制品类和油类水平的女生乳房发育差异均有统计学意义(均P<0.05)。多因素logistic回归分析显示,膳食摄入豆制品类(OR=0.48,95%CI=0.31~0.74)是女生乳房发育提前的保护因素。结论膳食摄入一定量富含PEs的食物是女生乳房发育提前的保护因素,这可能反映传统的以植物性为主的膳食结构代表了良好的饮食习惯和生活方式。     

Folic acid supplementation during pregnancy protects against lipopolysaccharide-induced neural tube defects in mice

Folic acid is a water-soluble B-complex vitamin. Increasing evidence demonstrates that physiological supply of folic acid during pregnancy prevents folic acid deficiency-related neural tube defects (NTDs). Previous studies showed that maternal lipopolysaccharide (LPS) exposure caused NTDs in rodents. The aim of this study was to investigate the effects of high-dose folic acid supplementation during pregnancy on LPS-induced NTDs. Pregnant mice were intraperitoneally injected with LPS (20 μg/kg/d) from gestational day (GD) 8 to GD12. As expected, a five-day LPS injection resulted in 19.96% of fetuses with NTDs. Interestingly, supplementation with folic acid (3 mg/kg/d) during pregnancy significantly alleviated LPS-induced NTDs. Additionally, folic acid significantly attenuated LPS-induced fetal growth restriction and skeletal malformations. Additional experiment showed that folic acid attenuated LPS-induced glutathione (GSH) depletion in maternal liver and placentas. Moreover, folic acid significantly attenuated LPS-induced expression of placental MyD88. Additionally, folic acid inhibited LPS-induced c-Jun NH2-terminal kinase (JNK) phosphorylation and nuclear factor kappa B (NF-κB) activation in placentas. Correspondingly, folic acid significantly attenuated LPS-induced tumor necrosis factor (TNF)-α, interleukin (IL)-1β and IL-6 in placentas, maternal serum and amniotic fluid. In conclusion, supplementation with high-dose folic acid during pregnancy protects against LPS-induced NTDs through its anti-inflammatory and anti-oxidative effects.     

Bi-allelic variants in DNAH10 cause asthenoteratozoospermia and male infertility

Journal of Assisted Reproduction and Genetics - Multiple morphological abnormalities in the sperm flagella (MMAF) comprise a severe phenotype of asthenoteratozoospermia with reduced or absent...     

妊娠期肝内胆汁淤积症对分娩结局影响的出生队列研究

目的 探讨孕中期和孕晚期妊娠期肝内胆汁淤积症(ICP)对分娩结局的影响。方法 在马鞍山市优生优育队列(MABC)中,将孕周≤14周、符合入组标准的孕妇共3 474人纳入队列,在首次产检时收集孕妇的一般人口学信息,并收集孕中期和孕晚期血清总胆汁酸(TBA)的检测结果,符合临床诊断的作为病例,采用logistic回归分析孕中期和孕晚期ICP对分娩结局的影响。结果 最终分析的样本人数为2 978人,ICP发生率为6.5%(n=196),其中孕中期和孕晚期ICP发生率分别为1.4%(n=43)和5.1%(n=153)。控制了潜在的混杂因素后,孕中期和孕晚期ICP均增加胎儿早产、低出生体重(LBW)、胎儿窘迫和羊水粪染的风险,OR值(95% CI)分别为6.42(2.59~15.93)和3.73(2.07~6.72);6.52(2.19~19.45)和4.90(2.43~9.90);2.91(1.27~6.67)和1.88(1.11~3.19);2.34(1.19~4.61)和1.66(1.11~2.48),并且孕中期ICP组发生上述不良分娩结局的风险远远高于孕晚期ICP组。结论 孕中期和孕晚期ICP均显著增加胎儿不良分娩结局的风险,孕中期ICP尤其值得关注,早期发现和干预对降低不良分娩结局的发生意义重大。     

青少年遭受同伴欺凌与抑郁症状关系的纵向交叉滞后分析

  目的  探讨青少年不同类型欺凌行为和抑郁症状之间的关系, 为进一步预防青少年同伴欺凌提供科学依据。  方法  基于2019年9月(T1)和2020年9月(T2)对安徽省淮北市1 687名青少年队列随访数据, 采用交叉滞后回归方法探讨不同类型同伴欺凌与抑郁症状的相互关系。  结果  T2时遭受欺凌行为(躯体欺凌、言语欺凌、关系欺凌、网络欺凌)和抑郁症状得分均低于T1时, 差异均有统计学意义(t值分别为13.60, 8.61, 7.24, 3.76, 8.29, P值均 < 0.01)。两个时期青少年的欺凌行为与抑郁症状之间均呈正相关(P值均 < 0.01);交叉滞后回归分析显示, T1时期的遭受躯体、言语、关系和网络欺凌均能正向预测T2时期的抑郁症状(β值分别为0.06, 0.04, 0.12, 0.05), T1时期的抑郁症状也能正向预测T2时期遭受躯体、言语、关系和网络欺凌(β值分别为0.07, 0.10, 0.13, 0.10)(P值均 < 0.05)。  结论  青少年同伴欺凌与抑郁症状之间相互影响, 存在一定的双向关联。     

Time-specific effect of prenatal stressful life events on gestational weight gain

Objective

To investigate the time-specific effect of maternal exposure to prenatal stressful life events (SLEs) on gestational weight gain (GWG) and to determine whether pre-pregnancy body mass index (BMI) modifies the effect.

Methods

Between March and November 2008, data were collected from 1800 pregnant women who received prenatal check-ups in Hefei, China, after 32 completed weeks of gestation. Participants completed a structured interview on demographic characteristics and a checklist of SLEs during different stages of pregnancy. GWG during pregnancy was determined by self-reported pre-pregnancy weight and measured weight at delivery.

Results

There was a significant dose–response relationship between prenatal SLEs in the first, but not the second or third, trimester and GWG. For each 1-unit increase in SLEs during the first trimester, there was a reduction in GWG of approximately 0.497 kg (95% confidence interval, 0.176–0.817 kg). After stratification by pre-pregnancy BMI, a significant negative association between SLEs in the first trimester and GWG was observed among women with pre-pregnancy normal (β = − 0.796; 95% CI, − 1.291 to − 0.301) and low (β = − 1.066; 95% CI, − 2.180 to − 0.048) weight.

Conclusion

The effect of prenatal SLEs on GWG depends on the timing of maternal exposure to stress and varies according to pre-pregnancy BMI.     

Gender-specific impairments on cognitive and behavioral development in mice exposed to fenvalerate during puberty

In human and rodent models, endocrine disrupting chemicals (EDCs) interfere with the development of cognition and behaviors. Fenvalerate is a potential EDC. The purpose of this study was to examine whether pubertal fenvalerate exposure altered behavioral development. Mice were orally administered with either vehicle or fenvalerate (7.5 or 30 mg/kg/day) from postnatal day (PND) 28 to PND56. Learning and memory were assessed by Morris Water Maze. Aggressive performance was evaluated by aggressive behavior test. Anxiety-related activities were detected by three tests: open-field, plus-maze and black-white alley. Sensorimotor function was analyzed using beam walking and tightrope. Results found that the impairment for spatial learning and memory was more severe in fenvalerate-exposed female mice than in male mice. In addition, pubertal fenvalerate exposure inhibited aggressive behavior in males. Moreover, pubertal fenvalerate exposure increased anxiety activities in females. Altogether, these results suggest that pubertal fenvalerate exposure impairs spatial cognition and behavioral development in a gender-dependent manner. These findings identify fenvalerate as candidate environmental risk factors for cognitive and behavioral development, especially in the critical period of development.     

医学生手机使用与童年期虐待经历及睡眠质量关联

目的 探讨手机使用在不同类型童年期虐待经历与医学生睡眠质量关联中的中介效应及性别差异,为促进医学生睡眠质量提供参考.方法 采用纵向研究设计,于2019年11-12月选取安徽省2所医学院校大一至大二年级在校生作为基线研究对象,并于2020年5-6月收集随访资料,共6879名学生纳入研究.通过Mann-Whitney U检...