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.     

The role of new technologies in reducing energy demand

Energy efficiency is often stated to be the most cost-effective measure for satisfying our energy demand with minimal environmental damage. However, the potential energy savings attainable in 'the real world' are frequently overestimated, as is shown in an industrial case study of the glass industry. Nevertheless, there are significant energy savings to be realized, and the role of new technologies in this is important. However, the key to the effective use of new technology for improved energy efficiency is good management and. for best effect, it must be integrated into the normal resource management activities of a company.     

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.     

An experimental investigation of explanations for inconsistencies in responses to second offers in double referenda

This paper demonstrates the potential for induced preference experiments to test previously unverified explanations of observed behavior in contingent valuation surveys. The NOAA Panel on Contingent Valuation called for experimental evidence on potential biases in the double referendum format. We test Carson, Groves, and Machina's (Incentives and informational properties of preference questions, Plenary address to the European Association of Resource and Environmental Economists, Oslo, Norway, June 1999) simple cost uncertainty and weighted averaging explanations of inconsistent responses to follow-up offers in such double referenda against a baseline of certainty and truthful preference revelation. The results find evidence to support the Weighted Average hypothesis. Results regarding the cost uncertainty hypothesis are more ambiguous and merit further investigation.     

Effect of solar ultra-violet radiation on the kelp Ecklonia radiata

During spring and summer, 1982–1986, experiments were carried out near Marmion Reef, Western Australia. In summer, nearly 30% of the surface solar ultraviolet radiation (280 to 400 nm) penetrates offshore waters to 5 m depth. Experimental removal of the mature Ecklonia radiata kelp canopy in summer results in tissue damage, photopigment destruction, reduced growth, and low survivorship of subcanopy kelp sporophytes. These effects do not occur with canopy removal in winter. Laboratory experiments revealed that the UV component of radiation, rather than intense photosynthetically active radiation, was responsible for the inhibition of growth and photodamage. UV radiation probably affects survival of the settlement stages of E. radiata sporophytes, thus excluding them from otherwise suitable substrata in shallow waters. UV radiation is implicated in the reduction of canopy productivity in summer.