Pilot study for the neonatal screening of fragile X syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd.     

A review and numerical assessment of the random walk particle tracking method

We review the basic mathematical concepts of random walk particle tracking (RWPT) and its advantages and limitations. Three different numerical approaches to overcome the local mass conservation problem of the random walk methodology are examined: (i) the interpolation method, (ii) the reflection principle, and (iii) the generalized stochastic differential equations (GSDE). Analytical solutions of the spatial moments for a two-layer system are compared to model predictions using the different techniques and results demonstrate that the interpolation method reproduces correctly average velocity, but fails to reproduce macrodispersion at higher hydraulic conductivity contrasts between the two layers. On the contrary, the reflection principle and the GSDE approach underestimate average velocity, but reproduce macrodispersion better for high contrasts. The different behavior is based on an artificial shift of mass for increasing heterogeneities for the GSDE approach and the reflection principle, whereas the interpolation method suffers from the smoothing of the dispersion tensor. The behavior of these approaches was furthermore analyzed in two-dimensional heterogeneous hydraulic conductivity fields, which are characterized by different random function models. Solute transport was simulated correctly by all three approaches for the reference fields having Gaussian structures or non-Gaussian structures with an isotropic spatial correlation, even for a variance of the natural log of hydraulic conductivity of sigma(lnK)(2)=4. However, for the non-Gaussian model with a strong anisotropic spatial correlation and a variance of sigma(lnK)(2)=2 and higher, the interpolation method was the only technique modelling solute transport correctly. Furthermore, we discuss the general applicability of random walk particle tracking in comparison to the standard transport models and conclude that in advection-dominated problems using a high spatial discretization or requiring the performance of many model runs, RWPT represents a good alternative for modelling contaminant transport.     

Pilot survey of a broad range of priority pollutants in sediment and fish from the Ebro river basin (NE Spain)

Priority organic pollutants were investigated in sediments and fish collected along the Ebro river basin (NE Spain) to evaluate their occurrence, transport and bioavailability. Sediments were collected in 18 sites and two species of fish were captured in nine sites according to the availability in each area. The sampling sites covered industrial, urban and agricultural areas. Four methods were used to detect 20 organochlorine compounds (OCs), 8 polycyclic aromatic hydrocarbons, 3 organotin compounds, 2 alkylphenols and 40 polybrominated diphenyl ethers (PBDEs) from purified extracts. The contamination pattern was site specific and no downstream increase in concentration of pollutants was observed but rather a generalized low level diffuse pollution. Target compounds were detected in sediments at 0.01 to 2331 microg/kg dry weight, and only OCs and PBDEs were accumulated in benthopelagic fish. Toxicological assessment was performed according to predicted environmental levels and revealed sites where adverse effects could occur.     

Biodegradation studies of selected priority acidic pesticides and diclofenac in different bioreactors

The biodegradation of selected priority acidic pesticides MCPP, MCPA, 2,4-D, 2,4-DP and bentazone and the acidic pharmaceutical diclofenac was investigated using a membrane bioreactor (MBR) and a fixed-bed bioreactor (FBBR). A pilot plant MBR was fed with raw water spiked with the selected compounds. The experiment was repeated every week during four weeks to enhance the adaptation of microorganisms. In order to further study the biodegradability of these compounds, degradation studies in a FBBR were carried out. All the samples were analysed by solid phase extraction-gas chromatography-mass spectrometry (SPE-GC-MS). The results indicate that in the MBR compounds except for bentazone were eliminated within the first day of the experiment at rates ranging from 44% to 85%. Comparing these results with the degradation rates in the FBBR showed that in the latter only MCPP, MCPA 2,4-D and 2,4-DP were degraded after a much longer adaptation phase of microorganisms.     

Pigeon navigation: Charcoal filter removes relevant information from environmental air

Summary Homing pigeons were displaced and kept until they were released in airtight containers ventilated with environmental air that could be passed through: (a) a filter made of fiberglass paper retaining large portions of the solid and liquid aerosol particles, (b) an additional filter consisting of activated charcoal, or (c) no filter (controls). Before its release, each bird was taken out of the container, and its olfactory epithelium was immediately anesthetized by lidocaine (Xylocaine). Thus, neither experimentals nor controls were able to smell while their initial orientation behavior was being observed.The controls' initial bearings were better homeward-oriented than those of pigeons ventilated with charcoal-filtered air in 14 of 17 releases conducted in Italy and Germany, at distances of 24–155 km. In the final analysis, the bearings of the charcoal-filter birds did not show any relation to the direction toward home, whereas those of the controls did. Pigeons ventilated with air that had passed through only the paper filter did not behave noticeably differently from control pigeons.It is concluded that the material bases of olfactory navigation in pigeons are substances dispersed in the atmosphere, most probably in a molecular state.     

Efficient size-selective bacterivory by phagotrophic nanoflagellates in aquatic ecosystems

Size-selective grazing on bacterioplankton by phagotrophic nanoflagellates was analyzed and modelled. The proposed model resembles a Monod equation (Michaelis-Menten-like expression) in which clearance rates by heterotrophic nanoflagellates depend on bacterioplnnkton biovolume. Larger bacteria were ingested faster than smaller bacteria. The proposed model was in agreement with experimental data from different authors, both from cultures and natural assemblages. Size-selective grazing efficiency was analyzed as the ability of phagotrophic nanoflagellates to discriminate between cells differing in volume by a factor of two, e.g., corresponding to dividing and nondividing bacteria. Unlike previously published models, the proposed model suggests that phagotrophic nanoflagellates could be highly effective size-selective grazers for small bacteria (<0.1 m³), which are the most common bacterial sizes in planktonic systems. However, phagotrophic nanoflagellates were unable to size-discriminate dividing and nondividing bacteria for volumes >0.1 m³. These results strongly support the hypothesis that heterotrophic nanoflagellate grazing, by discriminating between different sizes of dividing and nondividing bacteria, may actually be regulating bacterial size and growth rate in natural aquatic ecosystems.     

Morphologic development, relative sea level rise and sustainable management of water and sediment in the Ebre Delta, Spain

The Ebre (Ebro) Delta is one of the most important wetland areas in the western Mediterranean. Ca. 40 % of the delta plain is less than 0.5 m above mean sea level and part of the southern margin of the delta is at mean sea level in an area protected by dikes. Both mean rates of secular subsidence in the Ebre Delta and eustatic sea level rise are ca. 1 – 2 mm/yr. Thus, the present annual relative sea level rise (RSLR) rate in the Ebre Delta may be at least 3 mm/yr. Measured accretion rates in the delta range from 4 mm/yr in the wetlands surrounding the river mouth to <0.1 mm/yr in impounded salt marshes and rice fields. The annual sediment deficit in the delta plain to offset RSLR is close to 1 million m³/yr. Accretion rates in the rice fields prior to the construction of large dams in the Ebre watershed were higher than RSLR rates, from 3 – 15 mm/yr. At present, >99 % of the riverine sediments are retained in the reservoirs and rice fields are losing ca. 0.2 mm/yr. Future management plans should take RSLR into account and include control of freshwater and sediment flows from the river in order to offset negative effects from waterlogging and salt intrusion, and maintain land elevation. This will include the partial removal of sediments trapped behind the Ribarroja and Mequinença dams. Stocks and inputs of sediments in the corresponding reservoirs are large enough for land elevation of ca. 50 cm in the whole delta plain. Advantages of this solution include (1) new sediments to the delta to offset subsidence (via rice fields) and coastal retreat, (2) enhanced functioning of the delta (productivity and nutrient processing), (3) avoidance of accumulation of sediments in the reservoirs. Hence, it is important to manage river discharges at the dams from an integrated viewpoint, whereas currently only hydropower and agricultural requirements are considered. It is also crucial to maintain periods of high discharge, to have enough river energy to transport as much sediments as possible.