Trophoblast-like cells sorted from peripheral maternal blood using flow cytometry: A multiparametric study involving transmission electron microscopy and fetal dna amplification

Three monoclonal antibodies (MAbs) against trophoblast (GB17, GB21, and GB25) and flow cytometry were used to sort trophoblast-like cells (TLCs) from peripheral blood of pregnant women. Sorted TLCs were processed for electron microscopy and fetal DNA amplification of the Y-specific sequences from mothers carrying male fetuses. At the ultra-structural level, most of the nucleated cells had the morphology of leucocytes, suggesting maternal contaminants, and we did not find the characteristic features of the free inter-villous trophoblast cells. Nevertheless, polymerase chain reaction (PCR) analysis showed an amplification of Y-specific sequences in two out of three samples of sorted TLCs. These results suggest that besides the maternal leucocytes, sufficient trophoblast nucleated fetal cells can be obtained using cell enrichment by sorting. This sensitive method holds promise for non-invasive prenatal diagnosis of fetal sex and if sufficient Y(positive) nuclei are found, for the diagnosis of selected numerical chromosome abnormalities.     

Study on Assessing Economic Vulnerability of Small Island Regions

The main purpose of this study is to assess economic vulnerability of small island development regions as part of their sustainability constraints. By combining economic and environmental time series data, we assessed a composite index of economic vulnerability which is constructed from three exogenous variables, namely economic exposure, economic remoteness, and economic impact of environmental and natural disasters. We used the Amami Islands, Kagoshima Prefecture, Japan as the case studies for this paper.The results indicated that using a gross island products based valuation index, Kikaijima is the most vulnerable island in the Amami Islands with a composite economic vulnerability index (CEVI) value of 0.678, while by using a per capita based index, Okinoerabujima is considered the most vulnerable island with a CEVI value of 0.680. From the results we also revealed that smaller islands have relative higher vulnerability than the bigger one, which also confirms some previous country-level vulnerability studies.However, it is matter of fact that some islands that have relatively high vulnerability also have good economic performance as shown by their per capita income. In this regard, it can be argued that the success of these small islands could have been achieved in spite of and not because of their inherent vulnerability conditions as an indicator of sustainability constraint. Regarding these findings, we also examined a comparison between vulnerability results and the preliminary concept of an island's resilience in order to capture another perspective on sustainability assessment in a small island region.     

Prenatal prediction of childhood-onset spinal muscular atrophy (SMA) in Turkish families

Childhood-onset spinal muscular atrophy (SMA) is one of the most common neurodegenerative genetic disorders. SMN1 is the SMA-determining gene deleted or mutated in the majority of SMA cases. There is no effective cure or treatment for this disease yet. Thus, the availability of prenatal testing is important. Here we report prenatal prediction for 68 fetuses in 63 Turkish SMA families using direct deletion analysis of the SMN1 gene by restriction digestion. The genotype of the index case was known in 40 families (Group A) but unknown in the remaining 23 families (Group B). A total of ten fetuses were predicted to be affected. Eight of these fetuses were derived from Group A and two of these fetuses were from Group B families. Two fetuses from the same family in Group A had the SMNhyb1 gene in addition to homozygous deletion of the NAIP gene. One fetus from Group A was homozygously deleted for only exon 8 of the SMN2 gene, and further analysis showed the presence of both the SMN1 and SMNhyb1 genes but not the SMN2 gene. In addition, one carrier with a homozygous deletion of only exon 8 of the SMN1 gene was detected to have a SMNhyb2 gene, which was also found in the fetus. To our knowledge, these are the first prenatal cases with SMNhyb genes. Follow-up studies demonstrated that the prenatal predictions and the phenotype of the fetuses correlated well in 33 type I pregnancies demonstrating that a careful molecular analysis of the SMN genes is very useful in predicting the phenotype of the fetus in families at risk for SMA. Copyright © 2002 John Wiley & Sons, Ltd.     

Dandy – Walker syndrome and corpus callosum agenesis in 5p deletion

5p deletion syndrome commonly known as cri du chat is well described in affected neonates with catlike cry and hypotonia. Karyotyping will usually show a deletion of the short arm of one chromosome 5 with variable breakpoints. Only a few cases have been reported prenatally, and the fetal form of the syndrome has not been clearly individualised. We report a new case of 5p deletion syndrome diagnosed prenatally in association with Dandy–Walker syndrome and agenesis of the corpus callosum. Other brain anomalies have been reported previously, but this unusual association suggests the use of a specific probe in the investigation of these malformations. Copyright © 2005 John Wiley & Sons, Ltd.     

乙醇汽油对国六直喷汽油车排放特性的影响

选择5台国六直喷汽油车采用3种不同组分的E10乙醇汽油和1种不含含氧化合物的国VI汽油,按照国六排放标准开展了WLTC循环测试,研究乙醇和基础油组分对污染物排放的影响规律.结果表明,多数国六直喷汽油车的CO、THC和PM排放有所降低,NO_x排放无明显差异,PN排放微增,所有样车的CO、THC和PM平均排放降低为6%、7%和14%.E10乙醇汽油中的重质芳香烃含量增高时,PN排放明显增加,PN排放与PMI指数呈现较强的正相关关系.