Prenatal diagnosis and fetal pathology of partial trisomy 20p–monosomy 4p resulting from paternal translocation

Amniocentesis was performed in view of a paternal balanced chromosomal rearrangement t(4;20)(p16;p12), inv(18)(p11q11). The pregnancy was complicated by severe oligohydramnios. The fetal karyotype was unbalanced: 46XX, der(4), t(4;20)(p16;p12), inv(18) (p11q11)pat., thus resulting in partial trisomy 2Op and monosomy 4p. In addition, the amniotic fluid alpha-fetoprotein (AFP) became increasingly elevated with gestational age. The pregnancy was terminated at 25 weeks. The fetus presented with typical facial dysmorphic features, unilateral cleft lip and palate, severe renal hypoplasia, consistent with the 4p- (Wolf-Hirschhorn) syndrome.     

Environmental disasters,migration and displacement. Insights and developments from L’Aquila's case

This paper analyses the environmentally-induced migration and displacement resulting from L’Aquila's earthquake of 2009. After a general critical overview of the social science literature on this topic, the main changes in the migration system are analysed looking at the roots and trajectories of the forced human displacement that followed the earthquake, and reflecting on the challenges related to post-earthquake demographic movements and post-disaster resettlement. Through the analysis of the pre disaster (2002–2008) and recovery period (2009–2013) data, this paper offers a general model of how environmental disaster might affect migration and displacement and suggests the main challenges related to the post-disaster governance. Relying on ISTAT data on internal migration in Italy this paper argues that the post-seismic recovery period is characterized by a strong increase of out-flows from L’Aquila to other provinces, within the Abruzzo region and outside it, in particular toward the closest regions (Latium, Campania).     

Double-brooded great tits (<Emphasis Type="Italic">Parus major</Emphasis>) in Mediterranean oak habitats: Do first broods always perform better than second broods?

Although mistimed reproduction (i.e., time-lag between peak food supply and offspring food demand) has been attributed to habitat modifications or climate change in recent avian investigations, earlier breeding parents have higher reproductive success in many habitats. Here we compare first and second broods in great tits (Parus major L.) from two Mediterranean oak habitats differing significantly in the timing (about 5 weeks), but not the amount of caterpillar supply required to rear chicks. The study indicates that both the extent of mistimed reproduction and the breeding date per se influence breeding performance in this study system. The text was submitted by the authors in English.     

A novel L1CAM mutation with L1 spectrum disorders

X-linked hydrocephalus, HSAS (hydrocephalus due to stenosis of aqueduct of Sylvius), MASA (mental retardation, aphasia, shuffling gait, and adducted thumbs), and CRASH (corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraplegia, and hydrocephalus) syndromes are allelic disorders. X-linked hydrocephalus and associated phenotypes are due to mutations in the L1CAM gene, which has been identified as a coding neural cell adhesion molecule. We report two cases of L1 spectrum disorders within the same family. The first case was diagnosed by ultrasonographic examination prenatally and the second case was diagnosed postnatally. Both patients and their mothers carry a novel mutation of the L1CAM gene. In this family, nine X-linked hydrocephalus and five female carriers were found in three generations, and molecular genetic analysis was performed to detect the asymptomatic carriers. Copyright © 2005 John Wiley & Sons, Ltd.     

蜈蚣草中芘与砷的赋存特征及其相互作用

超富集植物蜈蚣草能够累积土壤环境中的砷,为探明蜈蚣草植株中芘的赋存特征及其与砷的相互作用,采用双光子激光共聚焦扫描显微技术检测观察芘在该植物中赋存和分布规律.结果表明,添加芘导致蜈蚣草各部位砷含量显著降低,其中叶部和茎部砷含量下降幅度达35%左右,根部砷含量减少20.5%.芘的添加使得植物各部位三价砷比例下降,五价砷比例升高,蜈蚣草叶部三价砷和五价砷赋存浓度下降幅度最大,下降幅度分别为42.2%和32.49%.添加砷可促进蜈蚣草根部和茎部中芘的积累,每株分别增加了9.8μg和139 ng,但对叶部中芘的积累无显著影响.芘主要分布于蜈蚣草细胞膜与细胞内部的细胞器膜结构及细胞核核膜附近,但细胞质中芘的含量较少,茎部韧皮部与皮层以及叶部栅栏组织和海绵组织中几乎没有检测到芘.     

镉-八氯代二苯并呋喃复合污染土壤中紫茉莉对镉的修复能力

针对土壤重金属-持久性有机物复合污染日益严重的现象,本研究以镉(Cd)和1,2,3,4,6,7,8,9-八氯代二苯并呋喃(OCDF)为典型的重金属和持久性有机污染物,选取紫茉莉为修复植物,通过温室盆栽实验研究Cd-OCDF复合污染土壤中植物的耐性以及有机物对植物提取土壤中Cd能力的影响.结果表明种植3个月期间,紫茉莉在Cd浓度≤200 mg·kg-1的复合污染土壤中具有较强的耐性,株高和生物量降低有限;与Cd单一污染相比,OCDF对紫茉莉株高、根部生物量无显著影响,Cd浓度200 mg·kg-1,OCDF浓度500μg·kg-1时,OCDF存在使紫茉莉地上生物量降低22.19%,其它处理组,OCDF对紫茉莉地上生物量无显著抑制作用,反而某些处理组增加紫茉莉地上生物量.Cd-OCDF复合污染效应与Cd单一污染相比,Cd浓度为200 mg·kg-1,OCDF浓度为100μg·kg-1时,紫茉莉根部Cd积累量降低了34.44%,Cd浓度为400 mg·kg-1,OCDF浓度为100μg·kg-1时,根部和叶部Cd积累量分别降低了7.93%和18.09%;其它处理组,OCDF不同程度地提高了紫茉莉根、茎、叶提取和积累土壤中Cd的能力.可见,用紫茉莉修复高浓度Cd-OCDF复合污染土壤中的Cd具有实践上的可行性.     

Partial trisomy 20p resulting from recombination of a maternal pericentric inversion: case report of a prenatal diagnosis by chorionic villus sampling

We report a case of prenatal diagnosis of trisomy 20p resulting from a maternal pericentric inversion. The diagnosis was confirmed on both chorionic villi and amniotic cells. This case underlines the fact that prenatal ultrasound diagnosis of this structural anomaly is difficult. The only early sonographic feature was increased nuchal translucency. Copyright © 2006 John Wiley & Sons, Ltd.     

Non-mosaic trisomy 20 presenting at 21 weeks' gestation as a thoraco-abdominal mass

Non-mosaic trisomy 20 is rare in fetuses surviving beyond the first trimester. We report a case of a fetus with non-mosaic trisomy 20 in amniotic fluid cultures obtained during the prenatal evaluation of an unusual thoraco-abdominal mass which was found at autopsy to be pulmonary sequestration. Gross inspection and autopsy of the fetus revealed multiple anomalies. Copyright © 2001 John Wiley & Sons, Ltd.     

The behavioral component in the meaning of places

How do people think about the physical setting in the world around them? Part of the answer to this question may be in terms of the behaviors that occur there. To explore people's knowledge of behavior—place associations, twenty places (shown via color photographs) were assessed in five ways: (a) ratings of the place's suitability for each of eleven behaviors, (b) ratings of the expected frequency of occurrence of the eleven behaviors, (c) free listings of reasons for going to each place, (d) free listings of activities-while-there and (e) free listings of activities associated with the place. Results showed that people can distinguish places on the basis of behaviors, that the behavioral component of place meaning is composed of distinct aspects, and that knowledge of behavior is related to a global, overall representation of a place.     

Recent Levels of Radionuclide Contamination in the Eastern Ural Radioactive Trace and Biological Effects in Local Populations of <Emphasis Type="Italic">Plantago major</Emphasis> L.

The results of the study have shown that the stocks of ⁹⁰Sr and ¹³⁷Cs in the frontal part of the EURT are 6700–15000 and 200–400 kBq/m², respectively. The coefficients of their accumulation in different herbaceous plant species in this impact zone are lower than in other areas. The accumulative capability of plants has probably decreased in the course of selection as an adaptation to the effect of radiation. The viability and growth parameters of Plantago major L. seeds from the EURT zone are similar to those of seeds from the background sample. Cenopopulations chronically exposed to radiation are characterized by a higher mutation rate in the progeny and an unstable response to additional acute irradiation in most characters studied. A high level of inbreeding is observed in all P. major cenopopulations of plantain. The cenopopulation of the impact zone is characterized by a lower variation of allozyme loci, which may be a result of stringent selection for individuals better adapted to the complex of conditions existing in its habitat.