A three-year follow-up on a child with low level trisomy 8 mosaicism which was diagnosed prenatally

We report on a case of trisomy 8 mosaicism detected prenatally in a single clone of amniotic fluid culture, and confirmed on fetal blood and on peripheral lymphocytes after birth. A follow-up was performed over 3 years, showing a clinically normal female with cognitive, neuropsychological, and linguistic development in a normal range.     

地下水环境中甲基叔丁基醚运移过程的动力学模型

建立了地下水环境中甲基叔丁基醚(MTBE)运移过程的变系数动力学模型,并对模型进行了验证和参数灵敏度分析.模拟结果表明,地下水流速和阻滞系数对于MTBE的运移过程影响最为显著,而水动力弥散系数的影响较小,忽略其变化不会对预测地下水环境中污染物运移的环境动力学行为造成太大误差.由此得到的结论可定量研究MTBE在地下水环境中的对流.扩散特征,还可为MTBE污染地下水的预测预报、修复治理等研究提供科学依据.     

Temperature Effect on Migration of Zn and Cd Through Natural Clay

To investigate the effect of temperature on effective diffusion coefficients and retardation factors for Zn and Cd, combined diffusion and sequential extraction analyses were conducted at 15 ^˚C and 55 ^˚C. The effective diffusion coefficients of the metals increased up to ten times according to the increased temperature. On the other hand, the effect of temperature on the retardation factor depended on the retention mechanisms of the metals. The distribution coefficient for Zn, which was mainly partitioned in the carbonate phase, increased up to two times with the increase in temperature. On the other hand, the distribution coefficient for Cd, which was mainly partitioned in the exchangeable phase, was hardly affected by the temperature change. Results of combined diffusion and sequential extraction analysis showed that the effect of temperature on the heavy metals’ (Zn and Cd) migration through the compacted natural clay was influenced by the combined effects of the diffusion coefficient and the retardation factor. Additionally, we could also observe the change in retention mechanism for the metals with the change in pore water concentration.     

Probability of intellectual disability is associated with soil concentrations of arsenic and lead

Background

The association between metals in water and soil and adverse child neurologic outcomes has focused on the singular effect of lead (Pb), mercury (Hg), and arsenic (As). This study describes the complex association between soil concentrations of As combined with Pb and the probability of intellectual disability (ID) in children.

Methods

We used a retrospective cohort design with 3988 mother child pairs who were insured by Medicaid and lived during pregnancy and early childhood in South Carolina between 1/1/97 and 12/31/02. The children were followed until 6/1/08, using computerized service files, to identify the diagnosis of ID in medical records and verified by either school placement or disability service records. The soil was sampled using a uniform grid and analyzed for eight metals. The metal concentrations were interpolated using Bayesian Kriging to estimate concentration at individual residences.

Results

The probability of ID increased for increasing concentrations of As and Pb in the soil. The Odds Ratio for ID, for one unit change in As was 1.130 (95% confidence interval 1.048-1.218) for Pb was 1.002 (95% confidence interval 1.000-1.004). We identified effect modification for the infants based on their birth weight for gestational age status and only infants who were normal size for their gestational age had increased probability of ID based on the As and Pb soil concentrations (OR for As at normal weight for gestational age = 1.151 (95% CI: 1.061-1.249) and OR for Pb at normal for gestational age = 1.002 (95% CI: 1.002-1.004)). For normal weight for gestational age children when As = 22 mg kg⁻¹ and Pb = 200 mg kg⁻¹ the risk for ID was 11% and when As = 22 mg kg⁻¹and Pb = 400 mg kg⁻¹ the probability of ID was 65%.

Conclusion

The probability of ID is significantly associated with the interaction between Pb and As for normal weight for gestational age infants.     

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.     

Deletion 15q24-26 in prenatally detected diaphragmatic hernia: increasing evidence of a candidate region for diaphragmatic development

Survival of children with congenital diaphragmatic hernia (CDH) is mainly dependent on the extent of lung hypoplasia and the presence of additional congenital anomalies or chromosomal aberrations. A chromosomal deletion 15q25-q26.2 in a fetus with prenatally diagnosed CDH and growth retardation is reported. Despite optimal pre- and neonatal management the baby died shortly after birth. There is increasing evidence that the long arm of chromosome 15, and especially the region 15q24 to 15q26, plays a crucial role in the development of the diaphragm. The finding of a deletion within 15q24-26 in a fetus with CDH has to be considered a predictor of poor prognosis. It is of utmost interest for proper parental counselling to search in fetuses with CDH for subtle chromosomal lesions paying special attention to chromosome 15q. Copyright © 2001 John Wiley & Sons, Ltd.     

酸阻滞法处理含酸及其相应盐的废液

本文主要介绍在含酸及其相应盐的废液中分离酸和盐的一种方法。将含酸及其相应盐的废液，通过装有强碱性阴离子交换树脂柱，其中的酸受到阻滞，而相应的盐能顺利通过，然后用水洗脱，则流出的是含酸的溶液，使酸和相应的盐得到了分离。经ＦｅＳＯ４－Ｈ２ＳＯ４和ＺｎＳＯ４－Ｈ２ＳＯ４两组废液的试验，均能使酸和金属得到回收。分离后的废水，可达标排放，废液得到了处理。酸阻滞法简单易行，易于投产使用，不受规模大小的限制。     

胡敏酸在土壤中的迁移

研究了不同条件下胡敏酸在土壤中的迁移过程.结果表明,其迁移过程表现出较大的差异,在溶液pH值、胡敏酸浓度和溶液流速均较高时,胡敏酸迁移的阻滞因子和在土壤中的吸附系数均较低,有利于胡敏酸在土壤中的迁移;在溶液pH值、胡敏酸浓度和溶液流速均较低时,土壤对胡敏酸迁移的阻滞作用较大.胡敏酸的迁移还与土壤性质有关,土壤黏粒含量和阳离子交换量越高,胡敏酸在土壤中吸附的越多,越不利于迁移.在土壤中的吸附是胡敏酸迁移的主要控制因素,在预测胡敏酸在水土环境中迁移时,应该充分考虑不同条件下胡敏酸在不同性质土壤中的吸附.