Immunologic defects as possible causes of therapeutic failures in children with transposition of the great arteries

Summary Recurrent and severe infections and absence of thymic shadow in X-ray examination were observed in children with the transposition of the great arteries (TGA). Among 45 children (29 boys and 16 girls) with TGA whose age ranged from 3 days to 16 years and who were hospitalized during 1 year, infectious diarrhea was observed in 77.7% cases, urinary tract infections in 44.5%, respiratory tract infections in 42.2%, sepsis in 17.5%, and meningitis in 8.8%. Nine of the children died, sepsis was a cause of death in seven children, and there were postsurgical complications in two children. Immunologic abnormalities in children with TGA included a decreased level of T-lymphocytes and T_29° subpopulation, impaired mitogen-induced lymphoproliferation in vitro, and increased nitro blue tetrazolium (NBT) reduction activity of monocytes. Impaired parameters of cellular immunity correlated with worst clinical status. No disorders of humoral immunity were observed. These observations may be important for forming opinion about proper therapy and the cause of death in children with TGA.All results have been included in T. Marek-Szydowska's doctoral dissertation and were communicated at the 65th Annual Meeting of Deutsche Gesellschaft für Rechtsmedizin, St. Gallen, Switzerland, Sept. 9–13, 1986     

北京市胎儿及婴儿先天性脑积水发生情况及婴儿期转归

目的通过对北京市5年先天性脑积水(CH)监测资料分析,了解北京市胎儿及婴儿的CH发生率、诊断及转归。 方法选择2015年1月至2019年12月,北京市出生缺陷监测系统内监测对象(胎龄为13周至生后1岁)中,407例CH患儿(胎儿或婴儿)为研究对象。对其出生缺陷诊断资料进行分析。采用χ²检验,对孤立性与非孤立性CH活产儿婴儿期存活率进行统计学比较。本研究遵循的程序符合2013年新修订的《世界医学协会赫尔辛基宣言》要求。 结果本研究时间(5年)内,北京市胎儿及1岁内婴儿的CH发生率为3.60×10^-4(407/1 129 861)。这407例CH患儿中,82例(20.15%)合并颅外畸形,20例(4.91%)合并染色体异常;CH胎儿的产前诊断率为92.38%(376/407),超声检出CH胎儿时,其胎龄为24周(23~35周),其中胎龄≥28周者占26.06%(98/376)。376例产前被诊断的CH胎儿中,44例采取产前胎儿超声联合MRI检查,而且通过胎儿MRI检查对4例胎儿的颅内畸形具体类型进行了补充诊断。本研究未发现CH患儿的孕母合并宫内感染;103例CH活产儿中,73例孤立性CH患儿的婴儿期(1岁内)存活率为72.6%(53/73),高于30例非孤立性CH患儿的婴儿期存活率(60.0%,18/30),二者比较,差异无统计学意义(P>0.05)。 结论北京市在预防出生缺陷发生的三级防控体系中,对CH胎儿与婴儿的一级、二级防控已取得效果。对孕妇全孕期多次动态胎儿超声检查,必要时联合胎儿MRI检查,对非孤立性CH胎儿同时采取细胞遗传学和分子遗传学检测,可进一步提高CH患儿的防控效果。     

先天性生殖器官异常孕妇的围生结局分析

目的探讨先天性生殖器官异常孕妇的围生结局。方法选择2009年1月至2019年12月,于四川大学华西第二医院活产分娩的99779例单胎妊娠孕妇为研究对象。根据是否合并先天性生殖器官异常,将其分为观察组(n=324,合并)及对照组(n=99455,未合并)。回顾性分析2组孕妇的临床病例资料,总结观察组不同类型先天性生殖器官异常孕妇的围生结局特点。采用χ^(2)检验及独立样本t检验,对2组孕妇妊娠期各并发症发生率、剖宫产率及新生儿出生体重等,进行统计学分析。本研究遵循的程序符合2013年修订的《世界医学协会赫尔辛基宣言》要求。结果①观察组孕妇最常见先天性生殖器官异常前3位依次为纵隔子宫、单角/残角子宫及弓形子宫,分别占35.2%(114/324)、26.2%(85/324)及13.9%(45/324)。包括既往妊娠次数在内,观察组孕妇共计妊娠571次,其中弓形子宫、纵隔子宫孕妇的自然流产率位列前2位,分别为38.5%(35/91)、28.6%(61/213);阴道畸形孕妇足月产率(70.0%),高于子宫畸形者(52.8%),并且差异有统计学意义(χ^(2)=4.432、P=0.035)。②观察组孕妇早产、胎膜早破、胎位异常、胎盘早剥、胎儿生长受限(FGR)、胎盘黏连/植入、子宫破裂及剖宫产率分别为29.6%、29.3%、36.1%、5.9%、2.5%、21.0%、3.4%、78.7%,均分别高于对照组孕妇的9.8%、22.3%、5.7%、1.2%、1.0%、11.5%、1.5%、62.0%;而羊水过少率(0.9%)及新生儿出生体重[(2913±652)g],则显著低于对照组的2.9%、(3254±445)g,并且上述差异均有统计学意义(均为P<0.05)。2组孕妇前置胎盘、妊娠期高血压疾病(HDCP)、产后出血(PPH)及子宫切除率比较,差异均无统计学意义(P>0.05)。结论先天性生殖器官异常孕妇的母、胎围生期并发症发生风险高。提高该病孕妇的孕前及早孕期诊断率,加强围生期保健及处理,可改善其围生结局。     

先天性外耳道闭锁中耳畸形临床分析

采用外耳道及鼓室再造术治疗先天性外耳道完全闭锁29例。统计各种外、中耳畸形情况,比较耳廓发育程度、颞骨相当于外耳道口处有无骨性小凹、术前听力损失程度与中耳畸形的关系,将术前的常规横断位CT检查结果与术中所见进行对照。结果显示,术前可通过耳廓发育程度、相当于外耳道口处有无骨性小凹、听力损失程度和颞骨CT扫描来综合估计中耳畸形情况,为术前了解手术难度和确定手术进路及方式提供一定的参考依据。     

Cytogenetic studies in couples experiencing repeated pregnancy losses

A computerized database generated from the literature on cytogeneticstudies in couples experiencing repeated pregnancy losses hasbeen set up at the University of Quebec at Chicoutimi. At thepresent time, it contains data on 22 199 couples (44 398 individuals).The statistical analyses showed a relationship between the distributionof the chromosome abnormalities and the number of abortions.An uneven distribution of the chromosomal structural rearrangementsaccording to the sex of the carrier was found (P < 0.05).Overall, 4.7% of the couples ascertained for two or more spontaneousabortions included one carrier. It also appeared that only translations(both reciprocal and Robertsonian) and inversions were associatedwith a higher risk of pregnancy wastage. Therefore, geneticcounselling should be offered to these couples and investigationsperformed on their extended families.     

全域扫频OCTA与荧光素眼底血管造影在糖尿病视网膜病变应用中的对比分析

目的 比较全域扫频光学相干断层扫描血管造影（OCTA）与荧光素眼底血管造影（FFA）对糖尿病视网膜病变（DR）的诊断价值。方法 选取2022年2月至2022年4月就诊于安徽医科大学第二附属医院眼科门诊的糖尿病视网膜病变患者35例（70眼）,每位患者均使用超广角彩色眼底照相（UWF CFP）检查。采用全域扫频OCTA和FFA分别检查受试者视网膜,并分析两者对视网膜微血管瘤（MA）、视网膜新生血管（RNV）、视网膜无灌注区（NPAs）、视网膜内微血管异常（IRMA）、糖尿病性黄斑水肿（DME）的检出率差异。结果 全域扫频OCTA中MA、RNV、NPAs、IRMA、DME的检出率与FFA相比,差异无统计学意义（P>0.05）,全域扫频OCTA与FFA对DR的筛查、诊断、分类一致性良好（Kappa值>0.75）。结论 全域扫频OCTA在DR应用中具有广阔的前景,可作为DR无创性筛查、诊断、随访的重要依据。