An accessory marker derived from chromosome 20 and its co-existence with a mosaic trisomy 20 cell line

We report a 16-month-old boy with delayed psychomotor development, dysmorphic features, and failure to thrive. He had a mosaic karyotype detected prenatally: mos 46,XY/47,XY,+r(20)/47,XY,+20. After birth, the abnormal cell lines were confirmed in a number of tissues. The small ring chromosome was identified using fluorescence in situ hybridization as derived from chromosome 20. We compared our patient with previously reported cases of mosaic trisomy 20 detected prenatally and associated with an abnormal phenotype. In an attempt to characterize an r(20) syndrome, we also compared our case with two similar reports in the literature.     

Prenatal diagnosis of a fetus with terminal deletion of chromosome 1 (q41)

Many authors have suggested that individuals affected by a terminal 1q deletion display a phenotypically definable and recognizable syndrome. In all of the 27 cases reported to date, the breakpoints were at band q42 or distally to it. To our knowledge, we report the first case of a terminal 1q41 deletion. Diagnosis was made prenatally by amniocentesis, following ultrasonographic diagnosis of omphalocele, cerebral ventriculomegaly, and increased nuchal fold thickness in a 19-week female fetus. Multiple facial and extremity features were consistent with the proposed distal 1q deletion syndrome; omphalocele, however, has not been reported previously. The absence of liver herniation into the omphalocele sac in this case supports the previously reported association of this finding with chromosomal anomalies.     

Mitigation of the Impact of Tropical Cyclones in Northern Australia through Community Capacity Enhancement

Community mitigation of hazard impact requires hazard knowledge and preparedness on the part of the members of diverse and complex communities. Longitudinal research in the tropical cyclone prone north of Australia has gathered extensive datasets on community awareness, preparedness and knowledge, in order to contribute to education campaigns and mitigation strategies. Data have been used to identify issues of vulnerability to cyclones and capacity to deal with the hazard. This has been developed as a community vulnerability and capacity model that may be applied to diverse communities in order to assess levels of capability to mitigate and deal with the cyclone hazard. The model is presented here in a simplified form as its development is evolving and ongoing.     

Internal circulating fluidized bed incineration system and design algorithm

ＩｎｔｒｏｄｕｃｔｉｏｎＴｈｅｐｒｏｃｅｓｓｏｆｍｕｎｉｃｉｐａｌｓｏｌｉｄｗａｓｔｅ(ＭＳＷ)ｉｓｏｎｅｏｆｔｈｅｍｏｓｔｓｅｒｉｏｕｓｉｓｓｕｅｓｉｎｔｅｒｍｓｏｆｅｎｖｉｒｏｎｍｅｎｔａｌｐｒｏｔｅｃｔｉｏｎ.ＰｒｏｃｅｓｓｉｎｇｏｆＭＳＷｗｉｔｈｏｕｔｆｕｒｔｈｅｒｄｉｓａｓｔｒｏｕｓｃｏｎｔａｍｉｎａｔｉｏｎｃａｎｂｅａｃｈｉｅｖｅｄｏｎｌｙｉｎｍｏｄｅｒｎｉｚｅｄｍｅａｓｕｒｅｓ,ｓｕｃｈａｓｉｎｃｉｎｅｒａｔｉｎｇａｎｄｅｎｅｒｇｙｇｅｎｅｒａｔｉｎｇｃｏｎｃｕｒｒｅｎｔｌｙ(Ｓｈｅｎ…     

Chinese life cycle impact assessment factors

ＩｎｔｒｏｄｕｃｔｉｏｎＬｉｆｅｃｙｃｌｅａｓｓｅｓｓｍｅｎｔ(ＬＣＡ)ｉｓａｎｅｎｖｉｒｏｎｍｅｎｔａｌｍａｎａｇｅｍｅｎｔｔｏｏｌｔｈａｔｉｓｕｓｅｄｔｏｅｘａｍｉｎｅａｎｄｅｖａｌｕａｔｅｔｈｅｅｎｖｉｒｏｎｍｅｎｔａｌｉｍｐａｃｔｓａｓｓｏｃｉａｔｅｄｗｉｔｈｔｈｅｅｘｉｓｔｅｎｃｅｏｆｐｒｏｄｕｃｔｓ(Ｊｅｎｓｅｎ,1998;Ｗｅｉｄｅｍａ,1997;Ｗｅｎｚｅｌ,1997).ＴｈｅｆｏｃｕｓｏｆＬＣＡｉｓｏｎｔｈｅｅｎｔｉｒｅｌｉｆｅｃｙｃｌｅｏｆｔｈｅｐｒｏｄｕｃｔ,ｉ.ｅ.ｆｒｏｍｔｈｅｅｘｔｒａｃｔｉ…     

Prevention of debris flow disasters on Chengdu-Kunming Railway

ＩｎｔｒｏｄｕｃｔｉｏｎＣｈｅｎｇｄｕ ＫｕｎｍｉｎｇＲａｉｌｗａｙＬｉｎｅｉｓｌｏｃａｔｅｄｏｎｔｈｅｍｏｕｎｔａｉｎｒｅｇｉｏｎｏｆｓｏｕｔｈｗｅｓｔｅｒｎＣｈｉｎａ .Ｔｈｅｒｅａｒｅａｌｏｔｏｆｄｅｂｒｉｓｆｌｏｗｇｕｌｌｉｅｓｓｐｒｅａｄｉｎｇｂｅｓｉｄｅｔｈｉｓｒａｉｌｗａｙｌｉｎｅ .Ｏｎｓｕｍｍｅｒ,ｔｈｅｄｅｂｒｉｓｆｌｏｗｏｆｔｅｎｂｕｒｓｔｓａｎｄｔｈｒｅａｔｅｎｓｔｈｅｓａｆｅｔｙｏｆｔｈｅｒａｉｌｗａｙｔｒａｎｓｐｏｒｔａｔｉｏｎ.Ｉｎ 1981,ａｌａｒｇｅ ｓｃａｌｅｄｅｂｒｉｓ…     

Transboundary air pollution balance in the new integrated European environment

Ten out of the 12 new EU members, used to belong to the so-called “former eastern block”, with a post WWII environmental policy radically different from the tendencies followed in Western Europe. The lack of conservation regulations has resulted in a rather harmful industrialization, regarding natural resources and environmental quality. While air pollution transfer is a phenomenon of transboundary level, there is a particular interest in examining the contribution of the new EU member states to the environmental pressure faced by the older member states and vice versa. The current study utilises the official data for almost 20 years published by the European Monitoring and Evaluation Program concerning the transboundary transfer of NO_x and SO₂ in order to analyse the situation and discuss the present and future environmental policy regarding air pollution.     

First-trimester prenatal diagnosis in quintuplets: A practical approach using step-by-step embryo reduction

A multiple pregnancy of high rank may occur in a couple at risk for a Mendelian disorder. Prenatal diagnosis is hampered by the difficulty of (1) obtaining chorionic villi from each zygote arid (2) unequivocally relating each sample to the corresponding embryo. The calculation of the genetic risk according to the number of zygotes led us to propose a diagnostic strategy based on embryo reduction, a technique initially designed to improve the perinatal outcome of multiple pregnancies with normal embryos. We report a case in which this approach allowed rational use of first-trimester chorionic villus sampling in a quintuplet pregnancy at risk for non-ketotic hyperglycinaemia, resulting in the selective birth of unaffected twins.