目的 研究母代不同孕期巨细胞病毒（CMV）感染对自身精神及行为的影响。方法 72只BALB/c雌鼠随机分为12组（A1、A2、A3、B1、B2、B3、C1、C2、C3、D1、D2、D3,每组6只）,A为孕期再感染、B为既往感染、C为孕期原发感染、D为空白对照,1为孕早期、2为孕中期、3为孕晚期。母鼠腹腔注射小鼠CMV（murine CMV,MCMV）Smith株建立播散性感染模型,或注射无菌生理盐水建立对照模型。母鼠产仔后同笼合养,产后22 d分笼;母鼠做行为学试验。试验结束,每组随机处死3只母鼠;测量子宫、肝、脑脏器重量系数及唾液腺中MCMV含量。结果 A、B、C组母鼠产后次日体质量均低于D组（均P<0.05）,其中C2、C3组母鼠低体质量情况持续至产后22日（均P<0.05）。A、B、C组母鼠唾液腺组织均测出MCMV。与D组母鼠相比,A1、C1组母鼠活胎率降低（均P<0.05）,A、C组母鼠的子宫、肝、脑脏器系数升高（均P<0.05）且脑组织有病损表现。产后6天时,A3、B3、C组母鼠水平运动总距离和直立次数减少（均P<0.05）,糖水偏好量降低（均P<0.05）,悬尾不动时间延长（P<0.05）;其中,C2、C3组母鼠以上行为退缩情况至产后22天仍存在,且有逃避潜伏时间延长（均P<0.01）,穿越原平台位置次数减少（均P<0.01）情况。结论 孕期CMV感染损害母代身心健康,有可能增加子代不良抚养的风险。

Objective To investigate the effects of cytomegalovirus（CMV）infection in different stages of maternal pregnancy on its own spirit and behavior．Methods A total of 72 female BALB/c mice were randomly divided into 12 groups（each group had 6 mice）：A1-A3,B1-B3,C1-C3,D1-D3（group A had re-infection,group B had previous infection,group C had primary infection,group D was blank control,group 1 was in early pregnancy,group 2 was in middle pregnancy,group 3 was in late pregnancy）．The disseminative infection model was established by intraperitoneal inoculation of murine CMV（MCMV）Smith strain,and the blank control model was established by intraperitoneal inoculation of 0.9% sterile saline（NaCl）．After 21 days of parturition,the mothers and offspring were reared in separate cages,mothers were selected for the behavior experiments．At the end of all the behavior tests,3 mothers in each group were killed randomly．Weighed and calculated the organ coefficients of the uteri,livers and brains,and detected the expression levels of MCMV in salivary gland．Results On the first day after delivery,the weights of mothers in groups A,B and C were lower than those in group D（all P<0.05）,the low body weight of mice in C2 and C3 groups lasted to the 22th day（all P<0.05）．The MCMV in salivary gland tissue were found in groups A,B and C,but not in group D．The live fetus rates of groups A1 and C1 were significantly lower than that of group D．The organ coefficients of uteri,livers and brains in groups A and C were higher than those in group D（all P<0.05）．And the lesions of brain tissues in groups A and C were more serious than in the other groups．On the 6th day,compared with the other groups,the mothers of groups A3,B3 and C were significantly abnormal in the open field test,the tail suspension test and the sugar preference test（all P<0.05）．But on 22th day,only the mothers of groups C2 and C3 were significantly abnormal in those tests（all P<0.01）,and even in the water maze test（all P<0.01）．Conclusions Maternal CMV infection in different stages pregnancy have impacts on mother mice's physical and mental health．Those bad situations may bring poor parenting to the offspring．

目的 探讨肠道病毒相关性脑炎患儿的临床特点;以期能为临床医师对该病的认识提供一定的帮助。方法 回顾性分析2018年1月—2019年12月广州市妇女儿童医疗中心感染科收治的37例肠道病毒相关性脑炎患儿的临床相关资料。结果 37例患儿男28例,女9例,男女比例3.11:1。主要临床症状体征发热(97.30%)、口腔疱疹和(或)皮疹(54.05%);常见神经系统症状呕吐(56.76%)、头痛(56.76%)、惊厥(29.72%),其中惊厥及呕吐头痛症状≤1岁组与其他年龄组差异有统计学意义;脑脊液检查白细胞升高为主;所有患儿均康复出院且无神经系统后遗症。结论 儿童肠道病毒相关性脑炎近一半患儿临床无咽部疱疹或皮疹表现,1岁以内患儿主要以发热及惊厥为主要表现,大于1岁尤其学龄前期及学龄期患者以发热呕吐伴头疼为主要表现;早期诊治预后良好。

Objective To explore the clinical characteristics of children with enterovirus associated encephalitis, in order to provide some help for clinicians to understand the disease. Methods The clinical data of 37 children with enterovirus related encephalitis treated in the infection department of Guangzhou Women and Children's Medical Center from January 2018 to December 2019 were analyzed retrospectively. Results There were 28 males and 9 females, with a male to female ratio of 3.11:1. The main clinical symptoms and signs were fever (97.30%), oral herpes and/or rash (54.05%); the common nervous system symptoms were vomiting (56.76%), headache (56.76%) and convulsion (29.72%). There were significant differences in convulsion, vomiting and headache symptoms between ≤ 1 year old group and other age groups. The leukocytes level in cerebrospinal fluid was elevated. All children recovered and discharged without neurological sequelae. Conclusions Nearly half of children with enterovirus associated encephalitis had no clinical manifestations of pharyngeal herpes or rash. The main manifestations of children under 1 year old were fever and convulsion. The main manifestations of children over 1 year old, especially preschool and school-age patients, were fever and vomiting with headache. Early diagnosis and treatment had good prognosis.

目的 对3例儿童Rotor综合征的临床特点及SLCO1B1和SLCO1B3基因突变分析,提高儿科医生对Rotor综合征的认识。方法 收集广州市妇女儿童医疗中心2018年—2019年确诊的3例Rotor综合征患儿的临床资料,对患儿及其家系成员肝脏常见遗传代谢性疾病二代测序筛查并家系验证结果进行分析。结果 患儿主要临床表现为反复或持续巩膜和(或)皮肤轻度黄染,实验室检查提示高直接胆红素血症。二代测序发现3例患儿均为SLCO1B1基因c.1738C＞T纯合突变和SLCO1B3基因5号内含子区域大片段插入纯合突变。SLCO1B1基因和SLCO1B3基因2处纯合突变均进行了家系验证。文献报道的SLCO1B1基因c.1738C＞T突变是无义突变,可以造成蛋白功能缺失;SLCO1B3基因的大片段插入突变虽暂未有文献收录或报道,但大片段的插入突变可引起移码突变而造成编码蛋白功能丧失。结论 由于基因检测技术的不断进步,Rotor综合征不断被儿科医生所认识。SLCO1B1和SLCO1B3双基因纯合或复合杂合突变是3例Rotor综合征患儿的分子遗传基础。

Objective To better understand Rotor syndrome(RS)in children,the clinical features and SLCO1B1 and SLC01B3 gene mutations were analyzed. Methods The clinical data of the 3 pediatric cases diagnosed in Guangzhou Women and Children's Medical Center between 2018 and 2019 was collected. Genomic DNA was extracted from the children and their family members, and subjected for second-generation sequencing to screen the known genes for liver genetic metabolic diseases. Then the detected mutations were confirmed by Sanger sequencing analysis. Results The main clinical manifestations were recurrent or persistent mild yellowish sclera and/or skin. Laboratory examinations showed hyperbilirubinemia with direct bilirubin elevating. Second generation sequencing showed that all 3 children were c.1738c＞Thomozygous mutations of SLCO1B1 gene and homozygous mutations of large fragment insertion in SLCO1B3 gene intron 5. Two homozygous mutations in SLCO1B1 gene and SLCO1B3 gene were verified in families.SLCO1B1 gene c.1738C＞T mutation,a nonsense mutation reported in references,could lead to protein function loss.A large insertion mutation of SLCO1B3 gene could cause frame-shift mutation which might lead to protein function loss even though it was neither reported in the references nor recorded in SNP database. Conclusion Due to the progress in the clinical application of gene detection technology, RS has been recognized gradually by pediatricians. Homozygous mutations or compound heterozygous mutations simultaneously occurred in SLCO1B1 and SLCO1B3 gene were the molecular genetics base in these cases of RS.