Prenatal diagnosis in three cases of iniencephaly with unusual postmortem findings

Iniencephaly is a rare and lethal congenital malformation of the neural tube characterized by occipital bone defect, cervical dysraphism, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. The etiology is unknown. Prenatally diagnosed cases of iniencephaly are rare because careful and early ultrasonographic evaluation is necessary. We present three cases of iniencephaly prenatally diagnosed by sonography at 20–22 weeks' gestation in which therapeutic abortion was induced. The sonographic findings were compatible with the postmortem findings. The present cases of iniencephaly were found to carry unusual associated malformations such as two lobes in the right lung and chorangiosis of the placenta. Only hypoplastic lungs have been reported by previous authors. We also studied the 677C→T mutation on the methylenetetrahydrofolate reductase gene in the parents in one of the present cases. The mother was found to be heterozygous for the 677CT polymorphism. Copyright © 2001 John Wiley & Sons, Ltd.     

Hyperechogenic fetal bowel and Down syndrome. Results of a French collaborative study based on 680 prospective cases

Hyperechogenic fetal bowel is prenatally detected by ultrasound during the second trimester of pregnancy in 0.1% to 1.8% of foetuses. It has been described as a normal variant and has often been associated with severe diseases, notably Down syndrome. The aim of the present study was to determine the risk of trisomy 21 in a prospective study of 680 fetuses with hyperechogenic foetal bowel. Karyotyping was performed on amniotic cells in 632 cases, and outcome was known in 655 cases. A 2.5% risk of Down syndrome and a 1% risk of other severe chromosomal anomalies were observed. Hyperechogenicity was isolated in 11/17 Down syndrome cases, and associated with other ultrasound anomalies in all seven cases of severe chromosomal anomalies. In conclusion, fetal bowel hyperechogenicity indicates a risk of chromosomal anomalies ten-fold higher than that expected on the basis of maternal age, therefore justifying invasive procedures. Copyright © 2002 John Wiley & Sons, Ltd.     

Cornelia de Lange Syndrome in association with a balanced reciprocal translocation involving chromosomes 3 and 5

We present a case report on a fetus with multiple malformations, diagnosed by ultrasound at 20 weeks' gestation. From the combination of intrauterine growth retardation and limb abnormalities that were observed, the most likely diagnosis was considered to be Cornelia de Lange Syndrome (CdLS). Following counselling, the mother opted to terminate the pregnancy. Chromosome analysis of cultured amniotic fluid cells showed a karyotype of 46,XX,t(3;5)(q21;p13). Postmortem examination of the baby confirmed the presence of features consistent with a diagnosis of CdLS. This case provides a report of a definitive diagnosis of Cornelia de Lange Syndrome, suspected on the basis of ultrasound imaging and confirmed by amniocentesis findings. Copyright © 2005 John Wiley & Sons, Ltd.     

Between pregnancy biological variability of first trimester markers of Down syndrome: implications for screening in subsequent pregnancies

In a group of 149 women who had undergone routine first trimester screening using fetal nuchal translucency thickness (NT) and maternal serum free β-hCG and pregnancy associated plasma protein-A (PAPP-A) in two consecutive pregnancies the within person between pregnancy biological variability of these markers has been assessed. For fetal NT there was no correlation between NT MoM in the first and second pregnancy (r=0.0800). For maternal serum free β-hCG MoM a significant correlation was observed (r=0.4174) as was also found for PAPP-A MoM (r=0.3270). The implications for such between pregnancy marker association is that women who have an increased risk of Down syndrome in their first pregnancy are 1.5–2 times more likely to repeat this event in their next pregnancy. This observation may be useful in counselling women in the first trimester screening of a subsequent pregnancy. Copyright © 2001 John Wiley & Sons, Ltd.     

Effect of land management on soil microbial N supply to crop N uptake in a dry tropical cropland in Tanzania

In Sub-Saharan Africa, conservation of available soil N during early crop growth, when N loss by leaching generally occurs, is important to improve crop productivity. In a dry tropical cropland in Tanzania, we assessed the potential role of soil microbes as a temporal N sink-source to conserve the available soil N until later crop growth, which generally requires substantial crop N uptake. We evaluated the effect of land management [i.e., no input, plant residue application before planting (P plot) with or without fertilizer application, fertilizer application alone, and non-cultivated plots] on the relationship between soil N pool [microbial biomass N (MBN) and inorganic N] and crop N uptake throughout the ∼120-d crop growth period in two consecutive years. In the P plot, MBN clearly increased (∼14.6-29.6 kg N ha⁻¹) early in the crop growth period in both years because of immobilization of potentially leachable N, and it conserved a larger soil N pool (∼10.5-21.2 kg N ha⁻¹) than in the control plot. Especially in one year in which N leaching was critical, increased MBN maintained a larger soil N pool in the P plot throughout the experimental period, and a delay of increased MB C:N ratio and a substantial decrease in MBN was observed, indicating better soil microbial N supply for crop N uptake during later crop growth. Therefore, plant residue application before planting should enhance the role of soil microbes as a temporal N sink-source, leading to the conservation of potentially leachable N until later phase of crop growth, especially in years in which N leaching is relatively severe. Although further studies are necessary, our results suggest that plant residue application before planting is a promising option to achieve better N synchronization.     

13C在草原土壤呼吸区分中的应用

区分草原土壤呼吸的主要目的在于准确估算草原生态系统土壤碳蓄积和碳源、 汇潜力,为预测气候变化提供科学依据。论文主要论述了稳定同位素¹³C在草原土壤呼吸区分方面的应用。主要在以下几个方面进行了阐述:①碳同位素区分土壤呼吸的两种主要标记方法——脉冲标记法和持续标记法,其中脉冲标记法包括单次脉冲标记法和重复脉冲标记法,持续标记法包括FACE实验标记法和¹³C自然丰度标记法,也介绍了利用核爆产生的¹⁴C标记;②应用碳稳定同位素区分土壤呼吸的理论依据和计算方法;③土壤呼吸稳定同位素组成的取样方法和测定,包括静态箱-Keeling Plot法、 静态箱平衡状态法和动态箱连接红外分析仪法等;④指出了减小静态箱-Keeling Plot法测定土壤呼吸碳同位素值的误差需采取的措施。     

三维有序介孔铈钴铜催化剂的制备及其降解邻二甲苯的机制

以PMMA为模板,通过聚乙二醇(PEG400)和柠檬酸辅助的溶胶凝胶法制备三维有序介孔铈钴铜(3DOM 3C)催化剂,应用BET、SEM、XRD和XPS等对不同煅烧温度的3DOM 3C催化剂进行表征分析,研究了催化剂活性及其影响因素,并利用FT-IR和GC-MS对降解产物进行分析,推测出催化降解邻二甲苯的机理.结果表明,煅烧温度500℃时制备的3DOM 3C催化剂表面具有三维介孔结构,且分散均匀,表面的晶体氧化物最少,存在大量的Cu~(2+)、Ce~(3+)和表面氧,催化剂表面存在更多的固溶体、表面活性位点和氧空位,有利于提高催化活性.在邻二甲苯初始浓度600 ppm、空速16000 h~(-1)、50%O_2条件下,煅烧温度500℃时制备的3DOM 3C催化效果最佳,在260℃时,3DOM 3C催化剂对邻二甲苯的转化率达98%,T_(90)为250℃. 3DOM 3C对邻二甲苯的转化率随着初始浓度、空速和相对湿度的升高而呈下降趋势,随着O_2含量的增加而增加.气流中混入150 ppm的乙酸乙酯能够提高邻二甲苯的转化率,提高其低温催化性能.邻二甲苯催化反应后催化剂表面的O—H、■、C—H和金属—氧键都相应的减少,降解中间产物主要有邻甲基苯甲醛和邻甲基苯甲酸.邻二甲苯降解反应涉及Mars Van Krevelen机理(MVK),先被氧化成邻甲基苯甲醛,再进一步氧化成邻甲基苯甲酸,最终生成CO_2和H_2O.     

炭化压力对编织C/C复合材料致密过程及结构的影响

目的研究不同炭化压力环境对C/C复合材料致密过程及结构的影响。方法通过浸渍/高压炭化工艺在不同炭化压力下制备高温煤沥青炭块及沥青基C/C复合材料,并研究不同炭化压力环境下对其密度和孔隙的影响。结果制备沥青炭的炭化压力由20 MPa增大至60 MPa时,沥青炭体积密度由1.08 g/cm~3增加至1.39g/cm~3,质量比表面积由14.74增加至16.51,开孔率由26.73减少至7.94,孔隙填充效果明显改善,浸渍-炭化的增密效率得到提升。结论在编织C/C材料的致密过程中,压力越大,其孔隙越小,分布越均匀,故产品致密效果越好。     

颗粒冲蚀对注射法制备C/C-ZrC-SiC复合材料 抗烧蚀性能的影响研究

目的采用ZrC和SiC复相陶瓷对C/C复合材料进行改性,研究改性后的复合材料受到颗粒冲蚀破坏的烧蚀行为。方法采用注射法将ZrC和SiC复相陶瓷前驱体引入到等温化学气相渗透法(ICVI)制备的低密度C/C复合材料中,再通过高温热处理、ICVI的方法制备出ZrC和SiC复相陶瓷改性的C/C(C/C-ZrC-SiC)复合材料,随后对制备的复合材料进行高速颗粒冲击实验破坏,并对破坏后的试样进行氧乙炔火焰烧蚀,研究其烧蚀行为。结果改性后的复合材料线冲蚀率和质量冲蚀率分别为253.1μm/s和79.8 mg/s,相较于同孔隙率的C/C复合材料分别降低了49.2%和61%。颗粒冲蚀破坏后C/C-ZrC-SiC复合材料的线烧蚀率和质量烧蚀率分别为4.26μm/s和1.44 mg/s,相比于同孔隙率的C/C复合材料,分别降低了37%和39%。结论由于引入的ZrC和SiC陶瓷相的硬度大于碳基体,C/C-ZrC-SiC复合材料在受到高速颗粒的冲击时,能通过硬质陶瓷相起到抗冲击作用,使得改性后的复合材料抗冲蚀性能大幅度提高。受到颗粒冲蚀破坏后的C/C-ZrC-SiC复合材料内部仍存在超高温陶瓷相,烧蚀过程中能够形成ZrO2骨架结构和SiO2球形颗粒,进而有效保护碳纤维和热解碳基体。