Prenatal diagnosis and intrafamilial clinical heterogeneity of Fraser syndrome

Fraser syndrome (MIM 219000) is a rare disorder of autosomal recessive inheritance, characterized by the association of cryptophthalmos, syndactyly and genital abnormalities. Here we report on two cases of Fraser syndrome (cryptophthalmos syndrome) in a non-consanguineous couple, with variable expression in echographic, clinical and autopsy findings. Furthermore, we highlight the difficulties in prenatal diagnosis of Fraser syndrome. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Polycyclic aromatic hydrocarbons: bees, honey and pollen as sentinels for environmental chemical contaminants

Three beehive matrices, sampled in six different apiaries from West France, were analyzed for the presence of four polycyclic aromatic hydrocarbons (PAH4: benzo[a]pyrene, benzo[a]anthracene, benzo[b]fluoranthene and chrysene). Samples were collected during four different periods in both 2008 and 2009. Honey samples showed the lowest levels of PAH4 contamination (min = 0.03 μg kg⁻¹; max = 5.80 μg kg⁻¹; mean = 0.82 μg kg⁻¹; Sd = 1.17). Bee samples exhibited higher levels of PAH4 contamination (min = 0.32 μg kg⁻¹; max = 73.83 μg kg⁻¹; mean = 7.03 μg kg⁻¹; Sd = 17.83) with a great dispersion of the concentrations due to four main events of high concentrations. Pollen samples showed only one major episode with the highest PAH4 concentration found (min = 0.33 μg kg⁻¹; max = 129.41 μg kg⁻¹; mean = 7.10 μg kg⁻¹; Sd = 22.28). The PAH4 concentrations found were significantly influenced by the landscape context for all beehive samples.     

Dilated coronary sinus in prenatal echocardiography; identification,associations and outcome

The dilated coronary sinus (DCS) has only recently been clearly visualised in the fetus due to progress in prenatal echography. This is a retrospective study of 22 fetuses presenting with DCS revealed by prenatal echography. We report the circumstances leading to the detection of a DCS and the neonatal outcome of these fetuses. The coronary sinus was defined as dilated depending on its visualisation in cross-section from the ‘4 chamber’ view, as well as a pseudo inter-atrial septal defect from a more posterior view. In each case the gestational age, circumstances of detection, associated anomalies and postnatal outcome are reported. The circumstances were: evaluation of a clearly identified DCS in four cases and during detailed fetal echocardiography because of suspected congenital heart disease in 18 cases. Five cases were associated with a cardiac anomaly, three with an extracardiac anomaly, six with both cardiac and extracardiac anomaly and eight were isolated. Postnatal outcome was related to the associated anomaly. In conclusion, it is important that the echography image be correctly interpreted, as a DCS often implies possible associated defects and therefore affects prognosis. When not associated with other anomalies this condition is not considered serious. Copyright © 2002 John Wiley & Sons, Ltd.     

Characterization of maspardin, responsible for human Mast syndrome, in an insect species and analysis of its evolution in metazoans

Mast syndrome is a complicated form of human hereditary spastic paraplegias, caused by a mutation in the gene acid cluster protein 33, which encodes a protein designated as “maspardin.” Maspardin presents similarity to the α/β-hydrolase superfamily, but might lack enzymatic activity and rather be involved in protein–protein interactions. Association with the vesicles of the endosomal network also suggested that maspardin may be involved in the sorting and/or trafficking of molecules in the endosomal pathway, a crucial process for maintenance of neuron health. Despite a high conservation in living organisms, studies of maspardin in other animal species than mammals were lacking. In the cotton armyworm Spodoptera littoralis, an insect pest model, analysis of an expressed sequence tag collection from antenna, the olfactory organ, has allowed identifying a maspardin homolog (SlMasp). We have investigated SlMasp tissue distribution and temporal expression by PCR and in situ hybridization techniques. Noteworthy, we found that maspardin was highly expressed in antennae and associated with the structures specialized in odorant detection. We have, in addition, identified maspardin sequences in numerous “nonmammalian” species and described here their phylogenetic analysis in the context of metazoan diversity. We observed a strong conservation of maspardin in metazoans, with surprisingly two independent losses of this gene in two relatively distant ecdysozoan taxa that include major model organisms, i.e., dipterans and nematodes.     

Subcellular localisation and identification of95mTc- and241Am-binding ligands in the hepatopancreas of the lobsterHomarus gammarus

Following uptake of technetium-95m and americium-241 by lobsters (Homarus gammarus) from food, the subcellular distribution and binding in the major organ of accumulation, the digestive gland, were analysed.^95mTc was predominantly bound to soluble proteins; approximately 40% was bound to two proteins displaying the same elution characteristics as Cdthioneins as indicated by gel permeation and ion-exchange chromatography, indicating reduction and sequestration by metallothionein in vivo. The identity of a third anionic low molecular weight Tc-binding component was not established. No evidence was found for binding of Tc to haemocyanin, ferritin or transferrin. Particulate Tc [probably TcO(OH)₂] was bound to plasma membranes and was also present in lysosomes, indicating reduction of pertechnetate and pinocytosis in the digestive gland. In contrast,²⁴¹Am was mainly sequestered by the lysosomal/vacuolar system, indicative of uptake by pinocytosis. Approximately 2 to 3% of the Am was bound to ferritin and 20% was bound to unidentified ligands of 10 and 20 kdaltons mol. wt. There was no evidence for sequestration of Am by metallothionein. These studies prove that waste radionuclides discharged by the nuclear industry are metabolically active and enter the normal metal metabolism and detoxication pathways of a marine shellfish.     

Variations of denitrification in a farming catchment area

We measured denitrification at 15 sites during 1 year in a agricultural catchment in Brittany, France. Our objective was to assess the relative importance of heterotrophic denitrification on the fate of excess nitrogen at the catchment scale, and to quantify the relative importance of riparian areas on the N₂O emissions. Using the C₂H₂ inhibition technique, denitrification rate on soil core and denitrifying enzyme activity (DEA) were each determined, for samples taken from two soil layers: 0–20 and 20–40 cm. Denitrification rates, ranging from 0 to 417 mg N m⁻² d⁻¹, were significantly higher in riparian areas than for hillslopes (median of 24.87 against 10.38 mg N m⁻² d⁻¹). However, since denitrification rates are significant in the hillslope and given that hillslope surface area is much greater (79% of catchment surface), this domain could be responsible for half of the overall denitrified nitrogen (N). Also, the 20–40 cm deep soil layer was found to account for more than 46% of the denitrification. The DEA indicates the potential for denitrifying activity by the soil under non-limiting conditions, measured values ranged from 76.48 to 530.63 ng N g⁻¹ dry soil h⁻¹. The ratio N₂O/(N₂O + N₂) was about 60% with no clear spatial or temporal trends. Soil moisture appeared to be the main limiting factor for denitrification at the field scale. The results suggest that, for this catchment, denitrification is a major route for nitrogen removal, but a significant proportion of this removal occurs as N₂O.     

Characterization of the organic matter of sludge: determination of lipids, hydrocarbons and PAHs from road retention/infiltration ponds in France

This paper presents the results of the organic matter characterization of sludge from two ponds (retention and infiltration) located in France. Special focus was placed on studying hydrocarbons and PAHs. This investigation is part of a global project on road and urban sludge with the aim of identifying a better means for managing these materials. Gas chromatographic and GC/MS analyses indicate that the main component of the organic fraction stems from petroleum-derived products like diesel fuel and motor oil. This finding was confirmed by the presence of biomarkers from the hopane series, as well as by pyrolytic and alkylated PAHs. Results from this study clearly show that the contaminants are mainly generated from anthropogenic petroleum sources. Due to their levels of hydrocarbon contamination, these sludge deposits must be considered as waste and cannot therefore be disposed anywhere, especially within the current context of sustainable development.     

Environmental degradation of atrazine,linuron and fenitrothion in soil samples

The persistence of atrazine, linuron and fenitrothion in soil samples from an estuarine area (Ebro delta, Tarragona, Spain) has been studied. Soil samples from the top surface (10 cm) were collected during 1989–91, freeze‐dried, sieved through 200 μm, Soxhlet extracted with methanol, cleaned‐up with Florisil and analysed either by gas chromatography‐nitrogen phosphorus detection (GC‐NPD), in the case of atrazine and fenitrothion, or by liquid chromatography with diode array detection (LC‐DAD), for linuron. Confirmation of the samples analysed by GC‐NPD was carried out using GC‐mass spectrometric detection (MS) in the electron impact mode. The soil half lives obtained under the real environmental conditions have been calculated and the values obtained have been correlated with the physicochemical properties of each pesticide and the soil type. Degradation was affected by volatilization since temperatures in the area of study are relatively high, ca. 30°C, in the summer period. In the case of atrazine it has been shown that deethylatrazine is formed in all the samples studied..