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.     

Prenatal diagnosis of Apert syndrome: report of two cases

Two de novo cases with Apert Syndrome detected prenatally are presented herein. In the first, fetal ultrasound findings of syndactyly of the hands, craniosynostosis and proptosis resulted in a prenatal diagnosis in the nineteenth week of gestation. This is the earliest prenatal diagnosis of this syndrome in a not-at-risk case. Following counseling, this pregnancy was terminated and subsequent pathological examination and DNA analysis confirmed the diagnosis of Apert Syndrome and coarctation of the aorta. In the second case, fetal ultrasound at 21 weeks' gestation revealed a hypoplastic left heart and clover-leaf skull. Following counseling, this pregnancy was also terminated. Further examination of the fetus and DNA analysis led to a diagnosis of Apert Syndrome. These cases emphasize the need to complete a thorough fetal ultrasound in cases with potentially lethal cardiac abnormality and the importance of incorporating a fetal pathologist, as well as a medical geneticist, in the investigations performed after delivery or pregnancy termination when a fetal abnormality is detected on ultrasound. Copyright © 2003 John Wiley & Sons, Ltd.     

Biological monitoring of particulate pollutants during exploration work at a niobium mineralization in Greenland

The purpose of this investigation was to monitor airborne dipersion of particulates in connection with exploration activities at a niobium-mineralization in the Sarfartoq area, SW Greenland, during the summer of 1989, and to provide a basis for monitoring strategies in later phases of the development of the mining site. During three periods moss bags were exposed at 9 stations close to the outcrop and at 3 background stations, and indigenous lichens and mosses were sampled before and after the exploration work.Analyses of element concentrations showed that the natural enrichment of elements in the indigenous vegetation is restricted to areas immediately at or on the outcrop. The elements found in elevated concentrations were Nb, La, Ce, Th and U.The moss bags and the indigenous monitor organisms showed rises in concentrations of the elements Nb, Ce, Cd, Pb and Zn after the exploration activities during the summer. This shows that some dispersion of dust has occurred in the area.     

Role of vitamin A in the haematotoxicity of hexachlorocyclohexane (HCH) in the rat.

The haematotoxicity of technical hexachlorocyclohexane (HCH) (1000 ppm) was investigated in male albino rats fed with diet free of vitamin A or containing vitamin A at 2000 or 10(5) I.U./kg. Assessment of HCH-induced haematotoxicity at the end of the 7 weeks feeding period was done on the basis of haemoglobin content, total count of red blood cells and white blood cells and the differential counts of the white blood cells as well as by parameters such as packed cell volume, mean corpuscular volume, mean corpuscular haemoglobin, mean corpuscular haemoglobin content, prothrombin time and clotting time. In the rats fed with vitamin A-free diet containing HCH, significant reductions were noticed in the total white blood cells count, clotting time and prothrombin time indicating severe haematotoxicity. Differential count of the white blood cells of these rats revealed a non-significant reduction in the lymphocyte count. The only indication of haematotoxicity caused by hexachlorocyclohexane in the vitamin A supplemented rats was a slight but statistically significant reduction of the total count of white blood cells. These results demonstrate that the haematotoxicity of hexachlorocyclohexane in the rats is enhanced by vitamin A-deficiency and its supplementation particularly in excess but not at hypervitaminotic level is protective against the toxicity.     

Composition of Floating Debris in Harbours of the United States

As part of a programme to characterize floating anthropogenic debris in the aquatic environment, the US Environmental Protection Agency (EPA) conducted 18 field surveys in the harbours of major metropolitan cities of the east, west, and Gulf coasts of the United States and the Mid-Atlantic Bight. the surveys were designed to provide information on the types, relative amounts, and distributions of aquatic debris in different geographic regions of the United States. Neuston nets (0.33 mm mesh) were used to collect surface debris during outgoing tides on two or three consecutive days in selected areas of each city. After each net tow, the debris, which ranged in size from small resin pellets to large plastic sheeting pieces, was identified, categorized, and counted. the data are being used to qualitatively characterize aquatic debris in coastal metropolitan areas, to examine potential regional variations, and to tentatively identify potential sources.     

Bhopal disaster—a personal experience

Bhopal Gas Tragedy was the worst industrial accident in the world where several thousand persons lost their lives. It occurred at the Union Carbide plant located inside the city of Bhopal and close to the railway station, at midnight of December 2-3, 1984 due to the leakage of MIC gas which took the local sleeping and floating population unawares.

This paper describes the experience of a transit passenger who reached the Bhopal Railway Station by train at about the same time when the deadly gas leakage occurred.     

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.