Prenatal diagnosis of congenital gastric outlet obstruction

A case of gastric outlet obstruction diagnosed prenatally at 22 weeks' gestation is described. The differential diagnosis and the clinical management of this rare condition are discussed, and an updated literature review is presented.     

Activities of alkaline phosphatase in first trimester chorion biopsy tissue

We have determined the activity of alkaline phosphatase in chorionic villous tissue obtained in the first trimester of pregnancy, in order to obtain the normal range of values as a prerequisite for application to the prenatal diagnosis of the rare bone disease hypophosphatasia. The activities found were a combination of intestinal and liver/bone/kidney types; traces of placental type were present in only one sample.     

First-trimester diagnosis of duodenal stenosis associated with oesophageal atresia

Duodenal stenosis associated with oesophageal atresia was diagnosed by ultrasound at 12 weeks' gestation. The diagnosis was made by recognition of a double bubble sign which was more pronounced when a vaginal transducer was used. Post-abortion autopsy confirmed the diagnosis. Oesophageal and duodenal obstruction in this case had no effect on the amount of amniotic fluid or the alpha-fetoprotein concentration since swallowing and subsequent utilization of amniotic fluid do not occur before 12 weeks of gestation.     

Prenatal cytogenetic diagnosis after transabdominal chorionic villus sampling in the first trimester

First trimester prenatal cytogenetic diagnosis was attempted in 350 pregnancies after trans-abdominal chorionic villus sampling. The cytogenetic investigation was performed using both a short-term method (24 h incubation) and cell culture. Adequate samples were obtained in 99·1 per cent and in all these cases the fetal karyotype was established. A chromosome abnormality was found in 2·0 per cent of cases. A discrepancy between the karyotype obtained after 24 h incubation and the karyotype in cell culture was observed in 2·3 per cent. Maternal cell contamination in the cultures was confirmed in 13 of 181 cases where the 24 h incubation revealed a male karyotype. Studies of culture morphology showed that colonies of convoluted cells may serve as a marker for contamination with maternal cells in culture. For the present, we recommend using a short-term method as well as cell culture for cytogenetic investigation until the problems with karyotype discrepancy and maternal cell contamination have been further clarified.     

2019年西安首场雾霾PM2.5关键特征的综合诊断

通过对WRF-Chem（Weather Research and Forecasting Model Coupled to Chemistry）环境模式模拟资料、HYSPLIT（HYbrid Single Particle Lagrangian Integrated Trajectory Model）前/后向气团轨迹资料、环境站监测资料，以及西安理工大学（Xi''an University of Technology，简称XUT）多波长激光雷达、米散射激光雷达、能见度仪、粒谱仪等观测资料的综合诊断，探讨了2019年1月初发生在西安的雾霾过程（记为首场雾霾）PM_2.5组分、分布及传输特征，旨在为雾霾气溶胶研究提供有益的个例积累.定性、定量双重检验表明，Chem模式较成功复制了此次雾霾气溶胶过程.利用这些可靠的模式数据分析表明，PM_2.5中碳气溶胶的主要组分为有机碳，约占85%，强盛期气溶胶各组分随高度增加均呈递减趋势，各组分近地面浓度最高.通过对两类不同方法获取的消光系数对比分析表明，相比于模式数据，激光雷达数据具有更高的垂直分辨率，因此，更善于描述消光廓线的细节特征.通过对多源资料的综合诊断最终揭示出，"北风涌"是雾霾消散的关键影响因子，沿铜川-西安-山阳一带存在着污染物传输的重要路径，雾霾由此体现出自北向南依次消散的特征.     

First-trimester free beta (hCG) screening for Down syndrome

Maternal serum free beta (hCG) levels are elevated (median 2·20 MOM) in the first trimester of pregnancy in 38 Down syndrome cases as compared with appropriate controls. This observation may form the basis for its use as a marker in screening for Down syndrome in the first trimester. Altered levels of the free beta analyte are observed in pregnancy conditions or complications other than Down syndrome.     

First and early second-trimester diagnosis of fetal urinary tract anomalies using transvaginal sonography

Urinary tract anomalies are common. Prenatal diagnosis is important and enables either special obstetric management or termination of pregnancy and probably in the future, intrauterine intervention. Transvaginal sonography (TVS) allows visualization of the normal and anomalous fetal urinary tract at an early stage. One thousand nine hundred and forty women were examined via TVS at an early stage of pregnancy between 10 and 16 weeks from the last menstrual period (LMP) and 35 anomalies (1·8 per cent) were clearly identified: 29 cases of low urinary tract obstruction, 2 cases of multicystic dysplastic kidney, 2 cases of polycystic kidney (infantile type), 1 case of double collecting system, and 1 case of horseshoe kidney. Potter syndrome could be ruled out in three patients who had delivered fetuses suffering from this anomaly in previous pregnancies. The concise and early identification of anomalies makes TVS an important aid in the hands of the obstetrician, ultrasonographer, and neonatologist.     

生活污水对蝌蚪红细胞微核及核异常的诱导

利用青蛙蝌蚪红细胞微核试验,检测了城市生活污水处理厂各级处理工艺出水的诱变活性。在l6d生话污水处理的实验中,青蛙蝌蚪红细胞微核细胞率及核异常率2d后就呈现统计上的显著增加,并随暴露时间的延长而增高,第8天达到最大值。在不同浓度混合污水暴露实验中,蝌蚪红细胞微核细胞率和核异常率呈现明显的剂量依赖性增加。实验结果表明:城镇生活污水具有较强的诱变活性,一级和二级处理工艺出水也具有一定的诱变活性。现有污水处理工艺有待于进一步改进。