Prenatal molecular diagnosis in RASA1-related disease

RASA1-related disease is a rare autosomal dominant disease characterized by capillary malformations, arteriovenous malformations (AVMs), and/or arteriovenous fistulas (AFVs). Penetrance is nearly complete and vascular malformations may cause serious complications such as organ injury due to oxygenation disorder, brain abscess, hemorrhage, and stroke. Early diagnosis is useful in order to discuss optimal management, including AVMs/AVFs embolization or surgical procedures, and try to prevent some of the complications. In this context, molecular testing of RASA1 gene mutation in relatives may help to better manage the family. All arteriovenous malformations are however not accessible to such procedures. In addition, these therapeutic procedures may result in potential side effects and complications. A couple was referred to our genetics unit and asked us for prenatal genetic testing about a RASA1 mutation. Here, we discuss about arguments that led our team to accept prenatal testing. To the best of our knowledge, no molecular prenatal diagnosis was reported until now in RASA1-related diseases. This first report of prenatal diagnosis in RASA1-related diseases may also offer perspectives for a more general discussion in the field of inherited arteriovenous malformations.     

Is microhabitat segregation between two cicada species (<Emphasis Type="Italic">Tibicina haematodes</Emphasis> and<Emphasis Type="Italic"> Cicada orni</Emphasis>) due to calling song propagation constraints?

The cicada species Tibicina haematodes and Cicada orni are two sympatric species often inhabiting vineyards. We show that they occupy two distinct levels: males of T. haematodes produce their calling songs from a high position in vine foliage while males of C. orni call from a low position near the ground on vine trunks. Experiments consisting of broadcasting and re-recording experimental signals in natural habitats from low and high positions show that signals are more and more modified as sender–receiver distance increases. T. haematodes would have an advantage when calling on trunks rather than on branches whereas C. orni would be able to call indiscriminately from both low and high positions. Thus, the microhabitat segregation observed between T. haematodes and C orni in vineyards does not seem to be related to calling song propagation constraints, but may be due to other ethological or ecological factors.     

Automatic continuous river monitoring of nitrate using a novel ion-selective electrode

On-site continuous measurement of nitrate in the River Taw situated in Devon (UK) was performed automatically for two months using a recently developed ion-selective electrode (ISE). A non-submersible electrode support system was developed and a field instrument was constructed comprising the nitrate-ISEs, a reference electrode and a temperature probe connected through a pre-amplifier to a data-logger and battery supply. The nitrate-ISE was constructed using a commercially available electrode body with a membrane incorporated into the tip. This rubbery membrane contained the sensor molecule (N,N,N-triallylleucine betaine chloride, 6.5% m/m) covalently bound to polystyrene-block-polybutadiene-block-polystyrene, SBS, (43.5% m/m), with 2-nitrophenyloctyl ether (2-NPOE) as mediator (40% m/m). The Nernstian slope was -59.1 mV per decade over a linear range of 1400-0.07 mg L(-1) nitrate-N. The limit of detection was 0.007 mg L(-1) nitrate-N with a selectivity coefficient for nitrate against chloride (k(pot)NO3-, Cl-) of 3.4 x 10(-3). The speed of response was less than a minute over the linear Nernstian range. The lifetime in the laboratory exceeded 5 months with no potentiometric drift over the linear Nernstian range. A temperature correction algorithm was also used to accomodate the temperature changes encountered in the river. The river nitrate results obtained with the ISEs at hourly intervals compared very favourably (R2 = 0.9) with those obtained with laboratory automated chemical determinations made on contemporaneous river samples over a concentration range 0.55-2.00 mg L(-1) nitrate-N. The ISEs did not require re-calibration and no deterioration in performance or fouling of the membrane surface was observed during 40 days.     

Devising Local Sustainable Development Indicators: from technical issues to bureaucratic stakes. The Greater Lyons experience

The paper will draw on the experience of Greater Lyons (France) in the development and implementation of air quality indicators in the framework of an environmental monitoring body, created in 1992. The analysis shows a patent discrepancy between the strength of the political support enjoyed by the monitoring body at its creation and its gradual confinement within the administrative structure of Greater Lyons. In fact, developing and using indicators raises not only technical issues but also political and bureaucratic stakes. The experience provides food for thought as regards the emergence of sustainable development issues within large and complex structures such as that of Greater Lyons. The paper points out that if indicators are hybrid objects, monitoring bodies, which are supposed to devise and promote them, are hybrid as well: their management, in terms of aims, means and position within the administrative body, is at least as important as their so-called 'technical' function.     

Mediterranean forests,land use and climate change: a social-ecological perspective

Regional Environmental Change - Mediterranean forests are found in the Mediterranean basin, California, the South African Cape Province, South and southwestern Australia and parts of Central Chile....     

Are wages more important for employees in poorer countries with harsher climates?

The purpose of the present research was to demonstrate that the perceived importance of wages is a function of thermal climate and national wealth. As hypothesized, analyses of 37 nationally representative samples of 22 483 blue‐ and white‐collar workers and 5544 managers show that wages are perceived as more important in poorer countries with colder climates (e.g., Azerbaijan) than in richer countries with colder climates (e.g., Canada) and in poorer and richer countries with temperate climates (e.g., Uganda, Singapore). The results suggest that performance‐related pay may be most effective in poorer countries with colder climates. Copyright © 2007 John Wiley & Sons, Ltd.     

Changes in Extractability of Cr and Pb in a Polycontaminated Soil After Bioaugmentation With Microbial Producers of Biosurfactants, Organic Acids and Siderophores

Partly because of the low bioavailability of metals, the soil cleaning-up using phytoremediation is usually time-consuming. In order to enhance the amount of metals at the plant's disposal, the soil bioaugmentation coupled together with phytoextraction is an emerging technology. In this preliminary work, two agricultural soils which mainly differed in their Cr, Hg and Pb contents (LC, low-contaminated soil; HC, high-contaminated soil) were bioaugmented in laboratory conditions by either bacterial (Bacillus subtilis, Pseudomonas aeruginosa, Pseudomonas fluorescens or Ralstonia metallidurans) or fungal inocula (Aspergillus niger or Penicillium simplicissimum) and incubated during three weeks. The LC soil pots bioaugmented with A. niger and P. aeruginosa contained higher concentrations of Cr (0.08 and 0.25 mg.kg⁻¹ dw soil) and Pb (0.25 and 0.3 mg.kg⁻¹ dw soil) in the exchangeable fraction F1 (extraction with MgCl₂) by comparison with the non-bioaugmented soil where neither Cr nor Pb was detected. Conversely, immobilization of Cr and Pb in the soil were observed with the other microorganisms. The soil bioaugmentation not only modified the metal speciation for the most easily extractable fractions but also modified the distribution of metals in the other fractions, to a lesser extent nevertheless. The difference in microbial concentrations between the bioaugmented or not HC soils reached up to 1.8 log units. Thus the microorganisms that we chose for the soil bioaugmentation were competitive towards the indigenous microflora. The PCA analysis showed close positive relationships between the microorganisms which potentially produced siderophores in the soil and the amount of Cr and Pb in the fraction F1.     

Familial orofaciodigital syndrome type I revealed by ultrasound prenatal diagnosis of porencephaly

Porencephaly is a rare central nervous system (CNS) abnormality that can be caused by an intraparenchymal destructive process or a developmental defect. Here we report on a prenatal ultrasound diagnosis of complex CNS abnormalities including agenesis of the corpus callosum, agenesis of the cerebellar vermis, bilateral hydrocephaly, and bilateral porencephaly in fetus at 33 weeks' gestation. The diagnosis of familial orofaciodigital syndrome type I (OFD I) was raised after fetal autopsy, clinical examination of the family, and the X-linked dominant inheritance pattern. This is the fourth report of porencephaly in association with OFD I. We discuss the difficulties in genetic counselling since OFD I shows variable expressivity of the phenotypic features. Furthermore, we emphasize the importance of a detailed ultrasound examination after a prenatal diagnosis of porencephaly. Copyright © 2001 John Wiley & Sons, Ltd.