Prenatal diagnosis of a 45,X male with a SRY-bearing chromosome 21

Male phenotype associated with a 45,X karyotype is an infrequent finding. We present a case diagnosed prenatally on amniocentesis performed for maternal age. The male phenotype was associated with a translocation of a distal part of Yp including the pseudoautosomal SHOX gene and SRY gene on the short arm of a chromosome 21. By DNA analysis we could show that the X chromosome was of maternal origin and that the breakpoint was in interval 3 of the Y chromosome. Mechanisms and genetic counselling are discussed based on a review of published cases of 45,X and XX males. Copyright © 2002 John Wiley & Sons, Ltd.     

Ammonia production and kinetic properties of glutamate dehydrogenase in the sipinculid Phascolosoma arcuatum exposed to anoxia

The amounts of total NH ₄ ⁺ detected in the external media in which Phascolosoma arcuatum had been exposed to various periods of anoxia were significantly greater than those in which the worms were exposed to normoxia for a similar period. The increased NH ₄ ⁺ production by P. arcuatum during anoxic exposure was unlikely to be due to an increased catabolism of adenine nucleotides or urea. In contrast, there were significant decreases in the concentrations of several free amino acids in the coelomic plasma and body tissues of individuals during the 48 h of anoxic exposure. The amount of NH ₄ ⁺ produced by the anoxic P. arcuatum could be accounted for by the decreases in the concentrations of aspartate or glycine. Increases in the catabolism of free amino acids (FAA), leading to the increased production of NH ₄ ⁺ , in P. arcuatum during anoxia were supported by the detection of significant changes in the kinetic properties of glutamate dehydrogenase (GDH), in the deaminating direction, from worms exposed to anoxia for 48 h. The apparent increase in the affinity of GDH from the anoxic worm to glutamate would bring about a greater deaminating activity at physiological concentrations of ths substrate. P. arcuatum used in these experiments were collected from the mangrove swamp at Mandai, Singapore between 1990 and 1993.     

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.     

Effects of calcium hydroxide and calcium chloride addition to bentonite in iron ore pelletization.

Pyrite ash is created as waste from the roasting of pyrite ores during the production of sulphuric acid. These processes generate great amounts of pyrite ash waste that is generally land filled. This creates serious environmental pollution due to the release of acids and toxic substances. Pyrite ash waste can be utilized in the iron production industry as a blast furnace feed to process this waste and prevent environmental pollution. The essential parameters affecting the pelletization process of pyrite ash were studied using bentonite as a binder. Experiments were then carried out using bentonite and a mixture of bentonite with calcium hydroxide and calcium chloride in order to make the bentonite more effective. The metallurgical properties of pyrite ash, bentonite, calcium hydroxide, calcium chloride, a mixture of these and sintered pellets were studied using X-ray analysis. The crushing strength tests were carried out to investigate the strength of pyrite ash waste pellets. The results of these analyses showed that pyrite ash can be agglomerated to pellets and used in the iron production industry as a blast furnace feed. The crushing strength of the pellets containing calcium hydroxide and calcium chloride in addition to bentonite was better than the strength of pellets prepared using only bentonite binder.