A further prenatal diagnosis of mosaic tetrasomy 12p (Pallister-Killian syndrome)

A case of mosaic tetrasomy 12p was detected in amniotic fluid cell cultures from a 28-year-old woman referred to us at 26 weeks' gestation because of hydramnios. The fetus was shown on ultrasonography to have an omphalocele and a short femur length. Labour was induced at 32 weeks. An infant with multiple congenital anomalies was delivered and died after 10 min. The diagnosis of i(12p) or Pallister-Killian syndrome was confirmed cytogenetically in fibroblast and lymphocyte cultures. Increased LDH-B activity was demonstrated in fibroblasts.     

高效液相色谱法测定水和废水中邻(对)硝基氯苯

用高效液相色谱法测定了水和废水中的邻 (对 )硝基氯苯。流动相为甲醇 /水 (70 /3 0 ) ,紫外检测波长 2 2 0 nm,方法的线性范围为 0～ 1 0 0 μg/ml,相关系数大于 0 .9998,检测限为 2 μg/L。本方法快速、准确 ,满足地面水的测定要求     

Prenatal diagnosis of trisomy 4p: a new locus for holoprosencephaly?

Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years. Herein, we report a new observation of trisomy 4p in a fetus with a semi-lobar holoprosencephaly (HPE), dysmorphic features and multiple malformations. The diagnosis of HPE was made, at 33 weeks' gestation, on the fetus of a healthy G1P0 woman. Amniocentesis was performed for chromosome analysis and additional material was found on a chromosome 22. The couple elected to terminate the pregnancy and fetal examination was realized. Conventional and molecular cytogenetic studies were performed on the fetus and the parents, which showed that the additional material found on one chromosome 22 corresponded to the short arm of chromosome 4 and therefore led us to establish a diagnosis of trisomy 4p inherited from the malsegregation of a paternal translocation t(4;22)(q12;q11.1). The etiology of HPE is very heterogeneous; it includes non-genetic factors such as maternal diabetes and genetic causes. HPE cases have been described in association with many chromosomal anomalies, trisomy 13 being the most frequent. However, to our knowledge, HPE has never been previously reported in association with a trisomy involving solely the short arm of chromosome 4. Copyright © 2005 John Wiley & Sons, Ltd.     

Use of sensitive methods for detection of DNA damage on human lymphocytes exposed to p,p′-DDT: Comet assay and new criteria for scoring micronucleus test

Wide distribution, stability and long persistence in the environment of dichlorodiphenyltrichloroethane (DDT), probably the best-known and most useful insecticide in the world, imposes the need for further examination of the effect of this chemical on human health and especially on the human genome. In this study, peripheral blood human lymphocytes from a healthy donor were exposed to 0.025 mg/L concentration of p,p′-DDT at different time periods (1, 2, 24 and 48 h). For the assessment of genotoxic effect, the new criteria for scoring micronucleus test and alkaline comet assay were used. Both methods showed that p,p′-DDT induces DNA damage in low concentration used in this research. Results of micronucleus test showed a statistically significant (p < 0.05) genotoxic effect of p,p′-DDT on human lymphocytes compared with corresponding control and a different exposure time. A comet assay also showed increased DNA damage caused in p,p′-DDT-exposed human lymphocytes than in corresponding control cells for the tail length. Results obtained by measuring the level of DNA migration and incidence of micronuclei (MN), nucleoplasmic bridges (NPBs) and nuclear buds (NBUDs) indicate the sensitivity of these tests and their application in detection of primary genome damage after long-term exposure to establish the effect of p,p′-DDT on human genome.     

Levels of persistent organic pollutant and their predictors among young adults

Exposure to persistent organic pollutants (POPs), such as polychlorinated biphenyls (PCBs), dichlorodiphenyldichloroethane (p,p′-DDE), and hexachlorobenzene (HCB) continues to be of concern due to their ubiquitous distribution and high persistence. Current toxicant body burden is still a primary concern within the Akwesasne Mohawk Nation since other studies conducted within the community have shown relationships between these POPs and endocrine disruption.In this article we describe the levels of these toxicants in young adults of the Akwesasne Mohawk Nation between the ages of 17 and 21 years of age (mean age 18.1 years), and investigate potential influences of their current body burden. Seventeen congeners in fourteen chromatographic peaks were detected in 50% or more of the individuals sampled (geometric mean [GM] of the sum of these congeners = 0.43 ppb). Congeners 118, 138[+163 + 164] and 153 had the highest rate of detection (?98%) within the Akwesasne young adults. Of the other organochlorines, HCB (GM = 0.04 ppb) and p,p′-DDE (GM = 0.38 ppb) were found in 100% and 99% of the sample respectively.Significantly higher levels of PCBs were found among individuals who were breastfed as infants, were first born, or had consumed local fish within the past year. When compared to levels of p,p′-DDE, HCB, and 13 specific congeners reported by the CDC for youth between the ages of 12 and 19 years, the geometric means of several congeners (CBs 99, 105, 110, and 118) among the Akwesasne were higher than the reported CDC 90th percentile. In contrast, levels of CB 28 in Akwesasne young adults were ∼50% or less than those of the CDC cohort. p,p′-DDE and HCB levels were generally higher in the CDC cohort (GM of 0.516 and 0.065 ppb, respectively for Mohawks vs. 2.51 and 0.123, respectively, for CDC). Concentrations of non-persistent PCBs among this sample of Akwesasne young adults were higher than those reported by the CDC suggesting continued exposure, but lower than those associated with severe contamination.Additional research into the concentration trends of individual PCB congeners within Akwesasne youth and young adults is warranted to further improve our insight into the determinants and influences of organochlorine concentrations within members of the Akwesasne community.     

Influence of plant-earthworm interactions on SOM chemistry and p,p'-DDE bioaccumulation

Laboratory experiments assessed how bioaccumulation of weathered p,p′-DDE from soil and humic acid (HA) chemistry are affected by interactions between the plants Cucurbita pepo ssp. pepo and ssp. ovifera and the earthworms Eisenia fetida, Lumbricus terrestris, and Apporectodea caliginosa. Total organochlorine phytoextraction by ssp. pepo increased at least 25% in the presence of any of the earthworm species (relative to plants grown in isolation). Uptake of the compound by ssp. ovifera was unaffected by earthworms. Plants influenced earthworm bioaccumulation as well. When combined with pepo, p,p′-DDE levels in E. fetida decreased by 50%, whereas, in the presence of ovifera, bioconcentration by L. terrestris increased by more than 2-fold. Spectral analysis indicated a decrease in hydrophobicity of HA in each of the soils in which both pepo and earthworms were present. However, HA chemistry from ovifera treatments was largely unaffected by earthworms. Risk assessments of contaminated soils should account for species interactions, and SOM chemistry may be a useful indictor of pollutant bioaccumulation.     

黄曲霉A5p1脱色类黑精及其机理初探:葡萄糖氧化酶的作用

类黑精是一种高分子难降解色素污染物质,在糖蜜酒精废水中大量存在.选取在前期研究中对糖蜜酒精废水具有较好脱色作用的黄曲霉(Aspergillus flavus)A5p1(保藏号CGMCC.4292),以合成的类黑精为对象研究脱色机理,试图为实际废水的生物脱色提供理论基础.结果显示,此菌株对合成类黑精具有生物吸附和生物降解的双重作用,以后者为主,最高脱色率可达65%.相较于漆酶、依赖/不依赖于锰的过氧化物酶等常规氧化脱色酶,此菌株中的产过氧化氢酶对脱色起主要作用,而且脱色过程中作为产过氧化氢酶之一的葡萄糖氧化酶与类黑精脱色率之间存在着一定的正相关性.添加葡萄糖氧化酶激活剂和抑制剂进行验证,发现葡萄糖氧化酶酶活力、过氧化氢产量和脱色率三者之间呈相关性变化.初步推测,葡萄糖氧化酶是黄曲霉A5p1生物降解脱色类黑精的关键酶之一.