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.     

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.     

Quantitative and Molecular Genetic Variation in Captive Cotton-Top Tamarins (Saguinus oedipus)

Most genetic surveys of captive and endangered populations are carried out with single gene characters bearing no direct relationship to life history or other features for which genetic variation needs to be maintained. Quantitative genetic estimates of heritable variation for life-history traits may be a more direct and appropriate measure of genetic variation for some conservation purposes. Furthermore, recent theoretical and empirical results indicate that genetic variation measured on these two levels may not be concordant. We analyzed heterozygosity at 41 allozyme loci and heritability for body weight in captive cotton-top tamarins ( Saguinus oedipus ) from the Marmoset Research Center of the Oak Ridge Associated Universities in order to compare these two levels of genetic variation. Cotton-top tamarins are a highly endangered species native to Colombia. Many animals currently reside in research facilities and zoological parks. A total of 106 animals were used in the isozyme survey, while data on 364 animals contributed to the quantitative genetic study of body weight. We found a very low average heterozygosity ( H = 1%) for this colony. Body weight was moderately and significantly heritable ( h ² = 35%). This heritability is within the normal range for natural animal populations. The finding of biologically significant levels of heritability in a population with abnormally low allozyme heterozygosity illustrates the point that low levels of allozyme heterozygosity should not be taken as an indication of overall lack of genetic variation in important quantitative characters such as life-history traits. Genetic variation required for adaptation of species to future environmental challenges can exist despite low levels of enzyme heterozygosity.