Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21

Objective To investigate the involvement of the genes encoding for COL6A1, COLA2 and super-oxide dismutase (SOD) in the mechanism for the retention of subcutaneous fluid in fetuses with trisomy 21. Methods During a 7-month period (November 2004–May 2005), human fetal skin from the nuchal region was obtained from euploid fetuses and from fetuses with trisomy 21 following abortions and terminations of pregnancy. Cell cultures were performed from nuchal skin. Quantification of COL6A1, COL6A2, COL6A3 and SOD mRNAs were performed using real-time quantitative RT-PCR. Results Twelve fetuses were studied between 13–15 and 19–20 weeks of gestation including 7 cases of trisomy 21. A significant overexpression of genes of interest was demonstrated in trisomy 21 fetuses when compared with euploid fetuses, in the first and in the second trimester of pregnancy (p < 0.0001). Conclusion This study demonstrates a homogeneous overexpression of the genes encoding for α1 and α2 chains of Collagen type VI, and SOD in nuchal skin of human trisomy 21 fetuses. Persistence of this overexpression in the second trimester of pregnancy, despite the absence of an enlarged nuchal translucency (NT), may characterize some compensatory mechanisms. Copyright © 2007 John Wiley & Sons, Ltd.     

International perspectives on the implementation of reproductive carrier screening

Reproductive carrier screening started in some countries in the 1970s for hemoglobinopathies and Tay-Sachs disease. Cystic fibrosis carrier screening became possible in the late 1980s and with technical advances, screening of an ever increasing number of genes has become possible. The goal of carrier screening is to inform people about their risk of having children with autosomal recessive and X-linked recessive disorders, to allow for informed decision making about reproductive options. The consequence may be a decrease in the birth prevalence of these conditions, which has occurred in several countries for some conditions. Different programs target different groups (high school, premarital, couples before conception, couples attending fertility clinics, and pregnant women) as does the governance structure (public health initiative and user pays). Ancestry-based offers of screening are being replaced by expanded carrier screening panels with multiple genes that is independent of ancestry. This review describes screening in Australia, Cyprus, Israel, Italy, Malaysia, the Netherlands, Saudi Arabia, the United Kingdom, and the United States. It provides an insight into the enormous variability in how reproductive carrier screening is offered across the globe. This largely relates to geographical variation in carrier frequencies of genetic conditions and local health care, financial, cultural, and religious factors.     

Physiological and immunological conditions of wild populations of <Emphasis Type="Italic">Farfantepenaeus duorarum </Emphasis>from the campeche sound (Crustacea,Penaeidae)

To assess the health status of aquatic ecosystems, specialized tools and strategies are needed to study the changes induced in oceanic systems by human activity. The Gulf of Mexico has a tremendous ecological importance because of its biological diversity. The present paper defines baseline levels of blood metabolites and immune components for wild tropical populations of F. duorarum: an important shrimp species of the Gulf of Mexico. Osmotic pressure (OP), osmotic capability (OC), oxy hemocyanin (OxyHc), glucose, digestive gland glycogen, proteins, cholesterol, lactate, acylglycerols (AG) were used as indicators of physiological and nutritional status; phenoloxidase activity, quantification of hemocytes, as well as respiratory burst, were used to assess the immunological status. There were no differences between sexes in either live weight or physiological and nutritional conditions. Only total blood protein, oxy hemocyanin, and digestive gland glycogen showed normally distributed data. All the remaining blood parameters were right- or left-skewed. A median live weight of 9.5 g was registered for the sampled population. Median values of 955 and −91.85 mOsm/kg (OP and OC, respectively) were obtained, indicating that shrimp were slightly hypo-osmotic in relation to sea water. A proportion of 27% of OxyHc of the total protein (OxyHc/Prot) was calculated for the F. duorarum population. ProPO and PO showed no normal distribution and were not different between sexes. A right-skewed distribution was observed. Total hemocytes, hyaline (HC) and granular cells (GC) showed differences between sexes, with higher values in females than males. A similar proportion of HC (69%) and GC (30%) of total cells were observed between sexes. Basal and activated respiratory burst showed differences between sexes with higher values for females than for males. The current results provide indicators of the nutritional and immune status of F. duorarum that can be used to detect changes in trophic relations and health at a population level.     

Evaluation of a soil‐amendment process demonstration for reducing the bioavailability of lead

The U.S. Environmental Protection Agency (EPA) evaluated an in‐situ application of a soil‐amendment process at a residential site that was contaminated with lead. The goal of the evaluation was to determine if the soil‐amendment process resulted in lower concentrations of bioavailable lead in the contaminated soils. The relative bioavailability of lead (bioaccessible lead) was measured by an in vitro test procedure that uses a highly acidic extraction procedure to simulate human digestive processes. The soil‐amendment demonstration showed that the 11.2 percent mean reduction in bioavailable lead concentration between untreated and treated soils was not statistically different. © 2002 Wiley Periodicals, Inc.     

Vertical distribution of early and competent larvae of Concholepas concholepas in two systems of Chilean inland seas

The transport of marine invertebrate larvae is strongly influenced by their distribution in the water column, which could be affected by the biological features of the larvae and environmental variables. Larvae can modify their swimming behavior throughout their planktonic cycle, thereby changing the observed distributional patterns. This ability, coupled with oceanographic features, could induce landward or seaward transport. We studied the vertical distribution of C. concholepas larval stages in two differently stratified systems in Chilean inland seas; Refugio Channel (a strongly stratified channel, where previously has been described as a frontal system) and Guaitecas (a gently stratified system). Combinations of 12–24 h larval collection experiments were done simultaneously with fixed temperature and salinity profiles; meteorological data were also obtained. The results suggest that both salinity and day period influence the C. concholepas distributional patterns in the water column. Early veliger and competent larvae are concentrated in different parts of the water column, probably related to their transport capacities. The upper layer of the water column at the Refugio site, unlike the Guaitecas site, showed a stratified regime, which could affect larval density and larval length between the two sites. Finally, our results suggest that Refugio may be a sink habitat for C. concholepas.     

Use of Nutshells as Fillers in Polymer Composites

Nutshells are agricultural waste products that can be procured at relatively low cost. In this work we examined the possibility of using these biodegradable materials as fillers in poly(lactic acid) and low density polyethylene. The nutshells were ground into powder, blended with the polymer, and then injection molded with final weight varying from 10 to 40 weight %. The mechanical and thermal properties of the composites were then studied. In general, the addition of fillers caused reductions in mechanical properties to varying extents, but thermal properties were only slightly affected. The use of maleic anhydride and peroxide with the fillers had a negative effect on poly(lactic acid) but a slightly positive effect on the stiffness of polyethylene. The results suggested that polymer-nutshell composites may be usable in applications where cost is a concern and where some reductions in mechanical properties are acceptable.     

Toxicokinetic study of dioxins and furans in laying chickens

Since foodstuffs from animal origin and particularly poultry products have been pointed out several times as reservoir of dioxins and related compounds, notably in Belgium few years ago, food chain safety issues appeared. Although food chain contamination incidents occurred many times through contaminated feedstuffs consumption in commercial chicken farms, very few studies have been carried out on transfer of dioxins and related compounds from commercial feed to hens. The present work continues a preliminary study on dioxin transfer in laying chickens carried out in our lab and available on-line on November 2004 in Environment International. In this work, absorption of dioxins were not preferential for 2,3,7,8-substituted congeners, increase with increasing number of chlorines, and was not linearly dependent of the octanol/water partition. Only 2,3,7,8-congeners were found in all organs studied, and these latter showed the same congener profile and similar lipid-normalized concentration, except for the liver. Abdominal fat and liver seemed to be the major storage sites and the liver preferentially retained highly chlorinated congeners. Unfortunately in this previous trial, laying process stopped very early for unknown reason leading to a considerable lost of information. In the present toxicokinetic study, more complete gastrointestinal absorption, excretion in eggs and bioaccumulation of dioxins in different tissues were investigated in chickens fed for 14 weeks with a 9 ng TEQ/kg contaminated feed. Stable levels were reached after 7 weeks in excreta and 9 weeks in eggs. During the whole trial, gastrointestinal absorption ranged between 41% and 91% depending on the congener. At steady state conditions, excretion of 1,2,3,4,6,7,8-HpCDD, OCDD, 1,2,3,4,6,7,8-HpCDF and OCDF exceeded 100% demonstrating excretion from tissues of these congeners which were also the most abundant in feed. 1,2,3,7,8-PeCDD, 1,2,3,7,8-PeCDF, 2,3,4,7,8-PeCDF, 1,2,3,6,7,8-HxCDF, 1,2,3,7,8,9-HxCDF and 2,3,4,6,7,8-HxCDF seemed to be metabolized more efficiently. Lipid adjusted concentrations and pattern were unexpectedly similar in the abdominal fat and the liver. On the contrary, eggs and breast muscles showed different pattern with higher level for high chlorinated congeners. When extrapolating our results, we found that a feed containing 0.750 ng TEQ/kg of dioxins (European norm for feedstuff) would cause a level lower than the maximum threshold level of 3 pg TEQ/g fat for chicken eggs fixed by European Communities. Nevertheless, a concentration lower than 0.6 ng TEQ/kg in feed would be needed to produce breast muscles less contaminated than 2 pg TEQ/g fat authorized in European.