Prenatal exclusion of X-linked hydrocephalus-stenosis of the aqueduct of sylvius sequence using closely linked DNA markers

X-linked hydrocephalus-stenosis of the aqueduct of Sylvius sequence (H-SAS, MIM number 307 000) is a rare genetic disorder characterized by hydrocephalus, macrocephaly, adducted thumbs, spasticity, mental retardation, and cerebral malformations. This regularly lethal condition is usually diagnosed at birth or prenatally by ultrasound, but hydrocephalus may be moderate or even undetectable on fetal ultrasound examination. Moreover, since heterozygous women are asymptomatic, carrier detection is at present impossible before the birth of an affected son. Therefore, mapping the H-SAS locus to distal Xq (Xq28) was of primary importance for genetic counselling and prenatal diagnosis. Here, we report prenatal exclusion of H-SAS with a probability of 97.6 per cent in two male fetuses with a 50 per cent a priori risk of being affected using closely linked Xq28 DNA markers.     

In situ characterization of sulphur in gill-endosymbionts of the shallow water lucinid Codakia orbicularis (Linné, 1758) by high-pressure cryofixation and EFTEM microanalysis

In this study, Codakia orbicularis gill-tissues were cryo-fixed by using high-pressure freezing, a freeze substitution process and finally by cryo-embedding in Lowicryl. Ultrathin sections were then used for an EFTEM microanalysis. Results show that intracellular bacterial symbionts contain elemental sulphur in periplasmic vesicles as indicated by conventional TEM. When sulphur is temporarily depleted in the environment, such structures may act as energy sources for bacterial metabolism. Moreover, sulphate was detected in the cytoplasm of the bacterial symbionts, suggesting the oxidation of elemental sulphur, located in periplasmic granules, to sulphate (the final step in sulphur oxidation) by these chemoautotrophic bacteria. To assess the effects of host starvation on the bacterial sulphur content, adult individuals of C. orbicularis were maintained in starvation for 6 weeks in sterile artificial seawater depleted in sulphur. During starvation, both (1) the number of bacteria inside the bacteriocytes and (2) the number of periplasmic granules per prokaryotic cell decreased. The content of the remaining periplasmic granules had been modified to sulphate. This observation suggests that bacterial gill-endosymbionts used the elemental sulphur in their periplasmic granules as stored substrate for oxidation in order to produce energy in case of sulphur depletion.     

Sublethal effects of epoxiconazole on the earthworm <Emphasis Type="Italic">Aporrectodea icterica</Emphasis>

Earthworms play a key role in agroecosystem soil processes. This study aims to assess the effects of different doses of a commercial formulation of epoxiconazole (Opus®), a persistent and widely used fungicide, on the earthworm Aporrectodea icterica. A laboratory study was conducted in a natural soil in order to measure effects of Opus® on earthworm mortality, uptake, weight gain, enzymatic activities (catalase and glutathione-S-transferase), and energy resources (lipids and glycogens). The estimated LC50 was 45.5 mg kg^?1, or 268 times the recommended dose. Weight gains were 28, 19, and 13 % of the initial weight after 28 days of exposure in the control and D1 and D10 (1 and 10 times the recommended dose) treatments, respectively. No difference was observed for catalase activity between the three treatments, at 7, 14, or 28 days. The glutathion-S-transferase (GST) activity was two times as high in D1 as in D0 at 14 days. At 28 days, glycogen concentration was lower in D10 than in the D1 treatment. This study highlighted moderate sublethal effects of the commercial formulation Opus® for earthworms. Considering that these effects were observed on a species found in cultivated fields, even at recommended rates, much more attention should be paid to this pesticide.     

Prenatal diagnosis of carnitine palmitoyltransferase 2 deficiency in chorionic villi: a novel approach

Carnitine palmitoyltransferase 2 (CPT2) deficiency, the most common autosomal recessive inherited disease of the mitochondrial long-chain fatty acid (LCFA) β-oxidation, may result in three distinct clinical phenotypes, namely, a mild adult muscular form, a severe infantile hepatocardiomuscular disease, and a neonatal form, which includes dysmorphic features in addition to hepatocardiomuscular symptoms. Both the latter forms are life-threatening diseases, and prenatal diagnosis (PND) can be offered to couples at a one-fourth risk of having an affected child. PND of CPT2 deficiency hitherto relied mostly on mutation detection from fresh chorionic villi (10 weeks' gestation), since CPT2 activity could be assayed on cultured amniocytes only (16–17 weeks' gestation). We devised a CPT2 activity assay from 10 mg of chorionic villi sampling (CVS). Combining this enzymatic assay to haplotype study using polymorphic markers linked to the CPT2 gene, we were able to carry out within 2 days, CPT2 deficiency PND, in two unrelated families, using a CVS performed at the 11th week of gestation. Copyright © 2003 John Wiley & Sons, Ltd.     

Leaching and degradation of S-Metolachlor in undisturbed soil cores amended with organic wastes

Environmental Science and Pollution Research - Organic waste (OW) reuse in agriculture is a common practice fostered by benefits in terms of waste recycling and crop production. However, OW...     

Impact of peri-urban landscape on the organic and mineral contamination of pond waters and related risk assessment

Environmental Science and Pollution Research - Ponds are important for their ecological value and for the ecosystem services they provide to human societies, but they are strongly affected by human...     

Yield and quality of charcoals from olive mill residues and its stone and pulp fractions: An enhanced comparative study

Pyrolysis is a promising way to upgrade large amounts of residues from olive oil processing into charcoal. Pyrolysis of the stone and pulp fractions needed to be investigated before conclusions could be drawn. We subjected the olive stone fraction, the pulp fraction, and a mixture of the two to dynamic pyrolysis and isothermal pyrolysis at 360°C. We characterized the charcoals resulting from isothermal pyrolysis at 360°C for different durations in terms of the fixed-carbon content (FCC), carbon content (CC), and high heating value (HHV). We found that charcoal yield from the pulp was higher than that from the stones, which were 38.1% and 32.9%, respectively, after pyrolysis for 360 min. This seemingly unexpected result was due to the high contents of ash (6.22%) and extractives (13%) in the pulp, which remained completely and partially undecomposed, respectively, in the charcoals and are accounted for when calculating yields. However, charcoals obtained from the stones were of higher quality than charcoals from the pulp, with lower ash content and higher FCC, CC, and HHV. In particular, the FCC, CC, and HHV after pyrolysis for 360 min were 73.2%, 74.4%, and 30.2 MJ/kg for the stones and only 61.8%, 63.2%, and 25.9 MJ/kg for the pulp, respectively. Depending on the required quality of the final charcoal, our results help decide whether to pyrolyse the entire olive residues or only one of the two fractions, more likely the stones.     

Passive environmental residential exposure to agricultural pesticides and hematological malignancies in the general population: a systematic review

Environmental Science and Pollution Research - Incidence rates of hematological malignancies have been constantly increasing over the past 40 years. In parallel, an expanding use of agricultural...     

No evidence for effect of soil compaction on the degradation and impact of isoproturon

Soil is damaged by several threats and, among them, chemical contamination by pesticides and compaction. However, the effect of compaction on the fate of pesticides in soil, and the impact of pesticides on soil biological functioning are unknown. Therefore, we studied the effect of soil compaction on the degradation of the herbicide isoproturon, and the impact of this herbicide on an enzyme activity (β-glucosidase) involved in the C soil cycle. Undisturbed soil samples were prepared at different bulk densities, treated with isoproturon then incubated at 18°C in darkness for 63 days. The results showed that soil compaction did not modify significantly the degradation of isoproturon, neither the formation rates nor the nature of its metabolites. Moreover, compaction did not modify the impact of isoproturon on β-glucosidase activity. To our knowledge, these are the first results concerning the interactions between soil compaction and the degradation and impact of a pesticide.     

Evaluation of epoxiconazole bioavailability in soil to the earthworm <Emphasis Type="Italic">Aporrectodea icterica</Emphasis>

In soil, the determination of total concentration using an exhaustive extraction method has little relevance to evaluate the exposure of an organism to a chemical, because of sorption processes. This study aims to propose a mild extraction method to evaluate the bioavailability of the fungicide epoxiconazole to the earthworm Aporrectodea icterica. Experiments were conducted in soils presenting various textures and organic carbon contents, spiked with formulated epoxiconazole 7 to 56 days prior to their extraction. In parallel, the epoxiconazole concentration was determined in exposed earthworms and the fungicide’s effects were evaluated by measuring weight gain, enzymatic activities and total protein contents. Among the various mild chemical solvents tested to evaluate the environmental availability of the fungicide, the 50 mM hydroxypropyl-β-cyclodextrin solution allowed to extract around 30 % of epoxiconazole. This percentage corresponded to the ratio determined in exposed A. icterica under similar soil conditions. Furthermore, this mild method was demonstrated to be sensitive to soil sorption capacities and to ageing. The mild extraction method was then applied to explore the relationship between total and (bio)available concentrations in soil and in A. icterica, over 7- or 28-day exposure time. This demonstrated the proportionality between epoxiconazole concentration in earthworm and available in soil (up to 96 %, with regression coefficient R ²?=?0.98). Sublethal effects on earthworm remained not significant.