Achondrogenesis type II (Langer–Saldino) in association with jugular lymphatic obstruction sequence

The prenatal diagnosis of achondrogenesis in association with cystic hygroma is described. Ultrasound findings of severe short-limbed dwarfism, decreased vertebral ossification, and normal ossification of the calvarium were all consistent with achondrogenesis type II. Although the unusual finding of associated cystic hygroma raised the suspicion of a concurrent chromosome abnormality, the karyotype of both fetal lymphocytes and fetal fibroblasts was normal. Autopsy confirmed dilated lymphatic channels in the basal endothelial layer of the skin, cystic hygroma, and coarctation of the aorta. Although previously unreported, we suggest that the features of this case of achondrogenesis indicate an association with lymphatic stasis and jugular lymphatic obstruction sequence in this syndrome.     

利用卫星资料估算我国西北地区直接辐射

在缺乏直接辐射、云量、日照时数等地面观测资料情况下,如何正确估算太阳直接辐射对太阳能合理开发利用有重要意义。利用NCEP/NCAR再分析资料、EOS-AURA卫星和FY-2C气象卫星反演资料,采用一个改进的宽带辐射传输模型对我国西北5个地面辐射站点2006年和2007年直射日曝辐量进行了估算。模型首先在Bird模型基础上对晴空条件下的太阳直接辐射进行了计算,然后结合FY-2C气象卫星总云量和云类反演数据,引入了一个线性方程,对实际天气状况下的直射日曝辐量进行了计算。结果表明:5个站点模拟的直射日曝辐量与实测值均存在较好一致性,评价效率系数NSE介于0.68~0.8,而对月均直射日曝辐量的模拟结果则显示模型在4-10月的估算精度要高于11-3月结果。     

Ultrasonographic method for detection of haemoglobin Bart's hydrops fetalis in the second trimester of pregnancy

In nine pregnant women at risk for fetal alpha-thalassaemia, the two affected fetuses were diagnosed by ultrasonography at 18–20 weeks' gestation. In countries with limited resources, ultrasonography provides a cost-effective method of prenatal screening for this condition.     

Prenatal diagnosis of Pompe's disease (type ii glycogenosis) in chorionic villus biopsy using maltose as a substrate

Uncultured trophoblasts obtained from chorionic villus biopsy during the gestation period of 8–12 weeks were assayed for alpha-glucosidase activity using maltose as the substrate. Only one major form of maltase activity with a pH optimum at 4.0 was demonstrated. Using this method, we performed prenatal diagnosis on three pregnancies at risk for the infantile form of type II glycogen storage disease. Two affected fetuses and one unaffected fetus were predicted and the diagnosis was subsequently confirmed. The maltose assay offered a direct, simple, and sensitive method for prenatal diagnosis of Pompe's disease in the first trimester.     

Prenatal diagnosis of congenital diaphragmatic hernia: Timing of visceral herniation and outcome

Ultrasonographic prenatal diagnosis of congenital diaphragmatic hernia is well established, but the correlation of prenatal detection with clinical outcome remains unclear. We report our experience with 15 cases of prenatally diagnosed congenital diaphragmatic hernia. Seven fetuses were detected at 14–16 weeks' gestation; two with a normal sonographic study at 15 and 16 weeks' gestation showed visceral herniation at 21 and 23 weeks, respectively. In the remaining six cases, a diaphragmatic hernia was found at ultrasonography after 24 weeks' gestation, while previous sonographic studies had been normal. All seven fetuses in whom a diaphragmatic hernia was diagnosed before 16 weeks' gestation were aborted; four of them had severe malformations or karyotype abnormalities. The two neonates who were diagnosed at 21 and 23 weeks' gestation died after surgical repair. In contrast, all six infants whose visceral herniation was diagnosed after 24 weeks of gestation, and whose sonographic studies at 15–23 weeks had been normal, are alive and well after corrective surgery. The results of this series suggest that the timing of visceral herniation into the thoracic cavity is a major indicator of the prognosis of these fetuses and that herniation that occurs after 25 weeks of gestation carries a favourable clinical outcome. Normal sonographic studies during the first half of pregnancy do not exclude the subsequent development of congenital diaphragmatic hernia, raising questions about the advisability of repeat examinations at later stages of gestation.     

2016冬季京津冀一次持续重度霾天气过程分析

2016年12月16～21日我国京津冀地区发生了一次持续重度霾天气过程.为了进一步加深对霾的认识和提高对霾的分析预报能力,利用多种资料,对此次重度霾天气过程的环流背景和气象要素等进行了综合性分析.结果 表明,此次过程持续时间长,污染强度大,影响范围广,能见度低,以外来输送为主,气溶胶主要分布在600 m以下高度,有一定...     

Ultrasonography in pregnancy and fetal abnormalities: Screening or diagnostic test? IPIMC 1986–1990 register data

The aim of the present study was to assess the sensitivity of ultrasound diagnosis used as a screening test in detecting major congenital anomalies in the prenatal period in a large nation-based multicentre setting. Data from the IPIMC register were collected in the period 1986–1990. One hundred and thirty-five hospitals, located in 17 out of the 20 regions in Italy, participated in the register. Study cases were 3479 infants with major congenital anomalies diagnosed at birth or in the first week of life. Subjects with chromosomal anomalies or multiple defects were excluded. The sensitivity of ultrasound prenatal diagnosis was 49.5 per cent for central nervous system anomalies, 3.8 per cent for congenital heart diseases, 17.1 per cent for gastrointestinal tract defects, 46.6 per cent for abdominal wall defects, 74.8 per cent for urinary tract anomalies, and 22.9 per cent for skeletal abnormalities. The detection rate for diaphragmatic hernia was 24.2 per cent. Overall, only 18 per cent of the defects diagnosed in utero were detected before 24 weeks' gestation. The sensitivity of prenatal diagnosis was 30.1 and 19.0 per cent in the northern, central, and southern regions, respectively. In light of its low sensitivity, ultrasonography as a screening test in the general population should be abandoned, although some improvement in its performance should be expected following adequate training of the ultrasound staff and the use of good technical equipment.