Prenatal echocardiographic diagnosis of right atrial isomerism

A prenatal diagnosis of right atrial isomerism is often inferred through the recognition of a constellation of cardiac anomalies on the four-chamber view or by the detection of visceral heterotaxy and asplenia. However, the actual occurrence of discordance between the arrangement of the atria and thoracic and abdominal organs makes the identification of the morphology of both atrial appendages the only reliable way to make a final diagnosis of atrial isomerism. Three cases of right atrial isomerism with visceral heterotaxy and a complex cardiac defect, diagnosed in utero by cross-sectional and colour flow Doppler echocardiography, are reported. In all the patients, the right atrial isomerism was associated with an atrioventricular septal defect, a single aortic outlet from the right ventricle, and total anomalous venous return. The diagnosis of right atrial isomerism, always confirmed by neonatal re-evaluation and/or by post-mortem examination, was made through identifying two pyramidal atrial appendages in an echocardiographic transverse plane at the level of the atria and of the origin of the great arteries. This report demonstrates that a final intrauterine diagnosis of atrial isomerism is possible, whatever the visceral situs is.     

Prenatal ultrasonographic diagnosis of fetal cerebral ventriculitis associated with asymptomatic maternal cytomegalovirus infection

Cytomegalovirus is the most common cause of congenital viral infection. In utero infection is usually suspected in patients with growth-retarded fetuses or when maternal illness precipitates serological investigations. A case is presented where routine ultrasound examination at 30 weeks' gestation in an asymptomatic patient demonstrated mild fetal ventriculomegaly. Transvaginal ultrasound enabled the visualization of intraventricular adhesions and small periventricular cysts. The suspected diagnosis of in utero cytomegalovirus infection was confirmed by the presence of IgM antibodies in fetal blood and subsequently by isolation of the virus from the infant's urine. The presence of mild fetal ventriculomegaly should prompt transvaginal brain imaging.     

Prognosis of fetuses with a cystic hygroma

This paper reports our experience with 55 fetuses identified in utero to have a cystic hygroma. The outcome of fetuses with an isolated cystic hygroma, cystic hygroma with non-immune hydrops, and cystic hygroma with multiple anomalies was evaluated. Approximately two-thirds of karyotypes were aneuploid, and a strong association of septation and aneuploidy existed. Only five cases, four of which had isolated hygromas, came to term and resulted in live births. Two of these involved small non-septated lesions which resolved in utero.     

Maternal exposure to specific perfluoroalkyl substances is associated with increasing blood glucose in pregnant women

正Imagine if a group of toxic substances that increase oxidative stress and disrupt glucose and lipid metabolism have been broadly used worldwide for applications such as repellent,food packaging,and non-stick frying pan coatings.Now imagine if some of these substances have half-lives as long as 3-8 years.This is an environmental reality that has come to light with perfluoroalkyl and polyfluoroalkyl substances(PFASs)–high     

The role of DNA microarrays in the evaluation of fetal death

Fetal death occurs in 15% of clinically recognized pregnancies. Cytogenetic abnormalities are present in 50% of spontaneous abortions (fetal deaths < 20 weeks) whereas the rate is 6% to 13% for stillbirths (fetal deaths ≥ 20 weeks). Microarray has been demonstrated to increase the diagnosis of genetic abnormalities by providing coverage of the entire genome at a higher density, detecting as small as 50 to 100 kb deletions or duplications, known as copy number changes. Microarray is particularly suited for evaluation of fetal death because DNA can still be analyzed in macerated fetuses and nonviable tissue, two situations where culturing and karyotyping is known to have low yield. Microarray has already proven successful in providing additional genetic information beyond karyotype in spontaneous abortion. The few studies on the use of microarray in stillbirth evaluation have been promising, demonstrating an increase in the diagnosis of clinically relevant genetic abnormalities when compared with karyotype. As the cost and technology improve, microarray may ultimately become the first line screen for genetic abnormalities in stillbirth. The accurate diagnosis of a genetic abnormality as the cause for fetal death may provide closure for families, prevent unnecessary treatments, and enable clinicians to more accurately counsel and manage subsequent pregnancies. © 2012 John Wiley & Sons, Ltd.     

垃圾填埋场渗滤液对小鼠遗传毒性和肝肾功能的影响

对垃圾填埋过程中产生的渗滤液的遗传毒性及其对肝肾功能的影响进行了初步研究. 选用经口急性毒性试验和微核试验,以某垃圾卫生填埋场2005年11月渗滤液为受试物,ICR纯种小鼠为受试对象,设置高、中、低3个浓度(即渗滤液原液,10倍稀释液和100倍稀释液)渗滤液染毒组和对照组,取小鼠眼静脉血测定总胆红素(TBIL)、谷丙转氨酶(ALT)、谷草转氨酶(AST) 、血清肌酐(Cr)和血尿酸氮(BUN)5项生化指标,探讨渗滤液诱发小鼠肝肾及遗传损伤. 结果表明,高、中浓度组小鼠骨髓嗜多染红细胞的微核率分别为18.8‰和3.8‰,与阴性对照组相比,2组的微核率显著增加(n10,P<0.05). 血清生化分析表明,中、高浓度组谷丙转氨酶(ALT)分别为70.4和70.0 U/L,与对照组差异显著(P<0.05);渗滤液低、中、高浓度组谷草转氨酶(AST)分别为247.1,255.1和281.6 U/L,与对照组相比,3个浓度组的差别均具有统计学意义(P<0.01).整体动物试验水平表明,渗滤液可能对哺乳动物具有遗传损伤效应,对肝功能也可能会产生一定的影响.      

水体中铊对泥鳅外周血红细胞的遗传毒性的时效性

铊(T1)是剧毒的重金属元素,会对生态环境和人体健康造成威胁.目前各国铊的环境安全标准存在差异.本文利用泥鳅红细胞微核技术,研究泥鳅Misgurnus anguillicaudatus红细胞微核率和核异常率与铊污染时间的关系,为该技术在铊毒理研究中的可行性和铊环境安全标准提供依据.结果表明:水体铊质量浓度为0.5μg·L~(-1)下,随处理时间的延长,泥鳅红细胞微核率、核异常率显著增加,并与时间呈显著的正相关,其中微核率、核异常率分别在处理24 h和48 h时达到最大值;随后两指标逐步下降,与时间呈显著的负相关.在此铊质量浓度和处理时间内,核异常率与微核率均显著高于空白无铊对照处理,表明水体铊质量浓度0.5 μg·L~(-1)对泥鳅血红细胞具有遗传毒性.     

二硫化碳对作业工人心血管系统的影响

对80名接触二硫化碳的生产工人进行了血脂和心血管系统影响的调查.结果显示,接触组的收缩压和舒张压均值与对照组相比,均明显增高(收缩压t=4.15,P＜0.01;舒张压t=2.89,P＜0.01);心电图异常和高血压发生率两组相比,接触组亦明显高于对照组,差异有极显著性意义(心电图异常χ2=23.06,P＜0.01;高血压χ2=18.03,P＜0.01);但血脂(TC,TG,HDL-C,LDL-C)检查,两组相比,差别均无显著性意义(P均＞0.05).研究显示,较长时间接触二硫化碳对心血管系统可产生影响,表现为血压升高,心电功能异常.     

Neurological and neuropsychological deterioration in artisanal gold miners from the town of Andacollo,Chile

It is widely known that human exposure to mercury vapor can cause neurological and neuropsychological deterioration. We have investigated if a population of Chilean artisanal gold-mining workers heavily exposed to elemental mercury (Hg⁰) display neurological and neuropsychological impairment. Male volunteers occupationally exposed to Hg⁰ (“gold miners”, n = 35) were recruited and compared with a group of unexposed workers (n = 40). Blood specimens were obtained from both groups for total mercury quantification. Upon neurological examination, 71% of the “gold miners” group showed abnormalities expressed as frontal impairment, tremor, or simultaneously frontal impairment, parkinsonism, and pyramidal syndrome. In contrast, only 16% of the individuals in the control group displayed neurological abnormalities. The “gold miners” group also showed impairment of the neuropsychological performance and the distribution of abnormal scores for almost all the neuropsychological tests applied was significantly higher in this group compared to the control group. Educational level, alcohol intake, and smoking habits did not influence the outcome of the neurological or neuropsychological examinations. Finally, despite that the higher blood mercury concentrations were found in the “gold miners” group, they were not significantly different from the values obtained in the control group.