Importance of eating habits and sample size in the estimation of environmental mercury contamination using biological indicators

The importance of eating habits and the number of fish sampled in the estimation of mercury environmental contamination through biological indicators was studied. The species used were one with piscivorous habits (Anguilla anguilla) and another with omnivorous habits (Ciprinus carpio). From one original sample for each species, randomized samples were generated using the subroutine GGSRS from the mathematics library IMSL, and later the statistical significance of Pearson's correlation coefficient for the relationship between fish weight and mercury concentrations in muscle was obtained for each random sample. The results show that the use of omnivorous species such as Ciprinus carpio as a biological indicator of contamination enables us to carry out estimations with a greater degree of confidence than when piscivorous species such as Anguilla anguilla are used.     

Is sex-biased maternal care limited by total maternal expenditure in polygynous ungulates?

We examined data on sex-specific differences in neonatal weight, litter size and adult female body weight in 32 populations of polygynous ungulates of 18 different species to test for the existence of a trade-off between sex-biased maternal care and the total amount of maternal expenditure. This corresponds to an extension of the hypothesis of Byers and Moodie (1990) that sex-biased maternal care is limited by a high level of maternal expenditure. We did not find any relationship between sex-biased care and two measures of total maternal expenditure. We highlighted high intraspecific variability in sex-biased care and very low intraspecific variability in total maternal expenditure. Even when this between-population variability in sex-biased care was accounted for, no relationship between sex-biased maternal care and maternal expenditure was detected. Apart from difficulties in finding suitable measures for both variables, two other reasons may account for the lack of a relationship between sex-biased maternal care and total maternal expenditure. Firstly, male offspring seem to be more affected than female offspring by harsh environmental conditions. This may lead to the variation observed in the extent of sex-specific differences in birth weight within a single species. If we assume that for a given maternal expenditure reproductive costs incurred by mothers are highest during harsh conditions, this could indicate the existence of a trade-off between sex-biased maternal care and maternal expenditure at the intra-specific level, thereby supporting the Byers and Moodie hypothesis. Secondly, polygyny is only a poor predictor of sex-biased care and factors such as compensatory growth or extended periods of growth may be expected to modify predictions for different species. Thus, environmental conditions and relative effects of maternal care on male and female lifetime reproductive success are better predictors of sex-biased care than total maternal expenditure.Communicated by P.M. Kappeler     

Preimplantation genetic diagnosis of the fragile X syndrome by use of linked polymorphic markers

Fragile X syndrome is the most common cause of familial mental retardation. The most common mutation is expansion of a triplet (CGG)_n repeat in the 5′ untranslated region of the FMR1 gene on Xq27.3. The expansion is refractory to PCR due to preferential amplification of the smaller allele in heterozygous cells and the high GC content of the repeat and surrounding sequences. Direct detection of the normal parental alleles in preimplantation embryos has been used for preimplantation genetic diagnosis (PGD) of this disorder. However, this approach is only suitable for approximately 63% of couples due to the heterozygosity of the repeat in the normal population. As an alternative we investigated the use of polymorphic markers flanking the mutation to track the normal and premutation carrying maternal chromosomes in preimplantation embryos. Using a panel of 11 polymorphisms, six (CA)_n repeats and five single nucleotide polymorphisms, diagnosis was developed for 90% of referred couples. Multiplex amplification of informative markers was tested in 300 single buccal cells from interested couples with efficiency and allele drop out (ADO) rates ranging from 69% to 96% and 6% to 18%, respectively. Use of this approach is accurate and applicable to a larger number of patients at risk of transmitting fragile X to their offspring. Copyright © 2001 John Wiley & Sons, Ltd.     

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.     

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.