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.     

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.     

Identification of Mn-oxide minerals in some soils from Devon,UK, and their varying capacity to adsorb Co and Cu

A number of Mn-oxide minerals in soils from a farm in North Devon have been tentatively identified using a combination of advanced analytical techniques: scanning electron microscopy (SEM), scanning electron microprobe (SEMP), X-ray diffraction (XRD) and bulk chemical analysis by wet digestion followed by inductively-coupled plasma spectrometry (ICP). The minerals lithiophorite and hollandite are thought to occur throughout the study area although there is considerable geographical variation in the proportions of minerals present. Bimessite, vernadite, romanechite, todorokite and cryptomelane may also be present, although in smaller amounts. The use of SEMP, together with a simple sorption experiment, has allowed a study of the extent of uptake of Co and Cu by different Mn-oxide minerals. Lithiophorite appears to take up Co and Cu more effectively than hollandite within a pH range of 4–6.     

Disposal of Mine Wastes Containing Pb and Zn Near the Ocean: An Assessment of Associated Environmental Implications in the Arctic

The past two decades have witnessed an increase in the exploration for, and development of, mineral resources at Arctic latitudes. Such effort has resulted in the commencement of production at a number of different localities in close proximity to the ocean. Since proximity to a source of transportation for the conveyance of concentrates to the market is a primary requirement governing the economic decisions for the mine to proceed, it is logical that ore deposits near a coastline are primary targets for development.

Closely tied to coastal mining developments is the need to dispose of tailings and waste rock in the most economical manner. Prior to the advent of heightened public awareness and environmental concern, and the enactment of pollution legislation, disposal practices were largely based upon convenience. Currently, however, proposed disposal and operating practices receive closer scrutiny, with a view to providing adequate protection for aquatic resources and habitat. This paper summarizes some of the features of three Arctic mines, wastes from which enter the marine environment, and compares the disposal practices used at each to measures of environmental change as indicated by metal concentrations in various media.