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.     

Life in extreme environments: survival strategy of the endolithic desert lichen Verrucaria rubrocincta

Verrucaria rubrocincta Breuss is an endolithic lichen that inhabits caliche plates exposed on the surface of the Sonoran Desert. Caliche surface temperatures are regularly in excess of 60 degrees C during the summer and approach 0 degrees C in the winter. Incident light intensities are high, with photosynthetically active radiation levels typically to 2,600 micromol/m(2) s(-1) during the summer. A cross-section of rock inhabited by V. rubrocincta shows an anatomical zonation comprising an upper micrite layer, a photobiont layer containing clusters of algal cells, and a pseudomedulla embedded in the caliche. Hyphae of the pseudomedulla become less numerous with depth below the rock surface. Stable carbon and oxygen isotopic data for the caliche and micrite fall into two sloping, well-separated arrays on a delta(13)C-delta(18)O plot. The delta(13)C(PDB) of the micrite ranges from 2.1 to 8.1 and delta(18)O(SMOW) from 25.4 to 28.9, whereas delta(13)C(PDB) of the caliche ranges from -4.7 to 0.7 and delta(18)O(SMOW) from 23.7 to 29.2. The isotopic data of the micrite can be explained by preferential fixing of (12)C into the alga, leaving local (13)C enrichment and evaporative enrichment of (18)O in the water. The (14)C dates of the micrite range from recent to 884 years b.p., indicating that "dead" carbon from the caliche is not a significant source for the lichen-precipitated micrite. The endolithic growth is an adaptation to the environmental extremes of exposed rock surfaces in the hot desert. The micrite layer is highly reflective and reduces light intensity to the algae below and acts as an efficient sunscreen that blocks harmful UV radiation. The micrite also acts as a cap to the lichen and helps trap moisture. The lichen survives by the combined effects of biodeterioration and biomineralization. Biodeterioration of the caliche concomitant with biomineralization of a protective surface coating of micrite results in the distinctive anatomy of V. rubrocincta.     

Testing hypotheses in evolutionary ecology with imperfect detection: capture-recapture structural equation modeling

Studying evolutionary mechanisms in natural populations often requires testing multifactorial scenarios of causality involving direct and indirect relationships among individual and environmental variables. It is also essential to account for the imperfect detection of individuals to provide unbiased demographic parameter estimates. To cope with these issues, we developed a new approach combining structural equation models with capture-recapture models (CR-SEM) that allows the investigation of competing hypotheses about individual and environmental variability observed in demographic parameters. We employ Markov chain Monte Carlo sampling in a Bayesian framework to (1) estimate model parameters, (2) implement a model selection procedure to evaluate competing hypotheses about causal mechanisms, and (3) assess the fit of models to data using posterior predictive checks. We illustrate the value of our approach using two case studies on wild bird populations. We first show that CR-SEM can be useful to quantify the action of selection on a set of phenotypic traits with an analysis of selection gradients on morphological traits in Common Blackbirds (Turdus merula). In a second case study on Blue Tits (Cyanistes caeruleus), we illustrate the use of CR-SEM to study evolutionary trade-offs in the wild, while accounting for varying environmental conditions.     

Feeding behavior of the ctenophore <Emphasis Type="Italic">Thalassocalyce inconstans</Emphasis>: revision of anatomy of the order Thalassocalycida

Behavioral observations using a remotely operated vehicle (ROV) in the Gulf of California in March, 2003, provided insights into the vertical distribution, feeding and anatomy of the rare and delicate ctenophore Thalassocalyce inconstans. Additional archived ROV video records from the Monterey Bay Aquarium Research Institute of 288 sightings of T. inconstans and 2,437 individual observations of euphausiids in the Gulf of California and Monterey Canyon between 1989 and 2005 were examined to determine ctenophore and euphausiid prey depth distributions with respect to temperature and dissolved oxygen concentration [dO]. In the Gulf of California most ctenophores (96.9%) were above 350 m, the top of the oxygen minimum layer. In Monterey Canyon the ctenophores were more widely distributed throughout the water column, including the hypoxic zone, to depths as great as 3,500 m. Computer-aided behavioral analysis of two video records of the capture of euphausiids by T. inconstans showed that the ctenophore contracted its bell almost instantly (0.5 s), transforming its flattened, hemispherical resting shape into a closed bi-lobed globe in which seawater and prey were engulfed. Euphausiids entrapped within the globe displayed a previously undescribed escape response for krill (‘probing behavior’), in which they hovered and gently probed the inner surfaces of the globe with antennae without stimulating further contraction by the ctenophore. Such rapid bell contraction could be effected only by a peripheral sphincter muscle even though the presence of circumferential ring musculature was unknown for the Phylum Ctenophora. Thereafter, several live T. inconstans were collected by hand off Barbados and microscopic observations confirmed that assumption.     

Defecation by Salpa thompsoni and its contribution to vertical flux in the Southern Ocean

Measurements of the defecation rate of Salpa thompsoni were made at several stations during two cruises west of the Antarctic Peninsula in 2004 and 2006. Rates were quantified in terms of number of pellets, pigment, carbon and nitrogen for a wide size range of both aggregate and solitary salps. Measured defecation rates were constant over several hours when salps were held at near-surface conditions from which they had been collected. The defecation rate per salp increased with both salp size and the ambient level of particulate organic matter (POM) in the upper water column. The weight-specific defecation rate ranged between 0.5 and 6% day⁻¹ of salp body carbon, depending on the concentration of available particulate matter in the water. Carbon defecation rates were applied to biomass estimates of S. thompsoni to calculate daily carbon defecation rates for the populations sampled during the two cruises. Dense salp populations of over 400 mg C m⁻² were calculated to produce about 20 mg C m⁻² day⁻¹, comparable to other major sources of vertical flux of organic material in the Southern Ocean. Measured sinking rates for salp fecal pellets indicated that the majority of this organic material could reach deep sediments within a few days, providing a fast and direct pathway for carbon to the deep ocean.     

Turbulence characteristics within sparse and dense canopies

Boundary layer interactions with canopies control various environmental processes. In the case of dense and homogeneous canopies, the so-called mixing layer analogy is most generally used. When the canopy becomes sparser, a transition occurs between the mixing layer and the boundary layer perturbed by interactions between element wakes. This transition has still to be fully understood and characterized. The experimental work presented here deals with the effect of the canopy density on the flow turbulence and involves an artificial canopy placed in a fully developed turbulent boundary layer. One and two-component velocity measurements are performed, both within and above the canopy. The influence of the spacing between canopy elements is studied. Longitudinal velocity statistical moments and Reynolds stresses are calculated and compared to literature data. For spacings greater than the canopy height, evidences of this transition are found in the evolution of the skewness factor, shear length scale and mixing length.     

A Method for Improving the Management of Controversial Wetland

Valley bottom wetlands in agricultural landscapes often are neglected in national and regional wetland inventories. Although these areas are small, located in the bottomlands of the headwater catchments, and scattered in the rural landscape, they strongly influence hydrology, water quality, and biodiversity over the whole catchment area. Valley bottom wetlands often are considered as controversial wetlands. Awareness of the functional role of wetlands is increasing, in parallel with their progressive disappearance in intensive farming landscapes. The need to improve tools for controlling wetland management is a primary consideration for decision makers and land users. This article proposes a method for the inventory of valley bottom wetlands. The method is based on the functional analysis of potential, existing, and efficient valley bottom wetlands (the PEEW approach). Several indicators are proposed for checking the validity of such an approach. Potential wetlands are delineated by means of a topographic index using topographic and pedoclimatic criteria computed from a Digital Elevation Model and easily accessible databases. Existing wetlands are identified from observed surface moisture, the presence of specific wetland vegetation, or soil feature criteria. Efficient wetlands are defined through a given function, such as flow or pollutant regulation or biodiversity control. An analysis of areas at the limits between potential, existing, and efficient wetlands highlights land cultivated or drained in the past, which currently represents negotiating areas in which rehabilitation and other intended management actions can be implemented.     

What can we learn from monitoring PCBs in the European eel? A Belgian experience

Between 2000 and 2007 pooled muscle tissue samples of the European eel (Anguilla anguilla) from 48 sites in Flanders (Belgium) were analysed for 30 polychlorinated biphenyl (PCB) congeners. There was a large variation between individual sites (range 11-7752 ng/g wet weight (ww) for the sum of the ICES 7 PCBs), eels from the River Meuse basin (mean 1545 ng/g ww) being considerably more polluted than those from the River Scheldt (615) and IJzer (61) basins. Overall, PCB 153, PCB 138 and PCB 180 were the most prominent congeners, however PCB patterns varied between the monitored locations. Analysis of the weight percentage of congeners demonstrates obvious differences in PCB composition between sites, indicating differential sources of pollution. Due to the variation in patterns, atmospheric fallout does not seem to be the main source of the PCB spread, but instead both local and upstream sources linked to industrial activities seem to be the main cause for PCB presence in Flanders. Considering the levels of the Sum 7 PCBs, eels are not compliant with the Belgian legal limits for consumption (75 ng/g ww) in 71% of the sites. Regular consumption of eels from polluted sites leads to a considerable excess of the WHO Acceptable Daily Intake value. Consumption of wild eels should by all means be prevented, as it presents risks for human health, especially for local anglers consuming their catch.     

Pilot scale application of a method for the analysis of perfluorinated compounds in surface soils

A growing number of studies now indicate that perfluorinated compounds (PFCs) are globally distributed in the environment. Their widespread distribution and presence in remote locations has led to questions about the importance of atmospheric and oceanic transport. Describing their distribution in surface soils is also an essential but neglected element in developing a comprehensive understanding of their occurrence in the environment. Soils are the critical link between global atmospheric and hydrologic processes where both local and distant contaminants can accumulate and be released into aquatic and terrestrial communities. Because PFC concentrations in soils will influence ground and surface water, wildlife, and crops, methods to accurately measure PFCs in soil are clearly needed. To help answer this need, we developed a method for the analysis of nine perfluorinated carboxylic acids and four perfluorinated sulfonic acids in soil. Samples from six nations (n = 10 per nation) were analyzed by LC-MS/MS to demonstrate the method performance parameters and to make preliminary observations about the occurrence of the PFCs in soils in different parts of the world. The resulting method shows acceptable performance characteristics for the target compounds in most soils while documenting the widespread occurrence of PFCs in surface soils.     

Structure and fate of a Pseudomonas aeruginosa population originating from a combined sewer and colonizing a wastewater treatment lagoon

The efficacy of a wastewater treatment lagoon (WWTL) at preventing the spread of Pseudomonas aeruginosa into natural aquatic habitats was investigated. A WWTL and its connected combined sewer and brook were exhaustively sampled. Physico-chemical analyses showed a stratification of the first pond according to pH, temperature and oxygen content. The P. aeruginosa counts partially matched this stratification with higher values among the bottom anaerobic waters of the first half of this pond. Genotyping of 494 WWTL P. aeruginosa strains was performed and led to the definition of 85 lineages. Dominant lineages were observed, with some being found all over the WWTL including the connected brook. IS5 was used as an indicator of genomic changes, and 1 to 12 elements were detected among 16 % of the strains. IS-driven lasR (genetic regulator) disruptions were detected among nine strains that were not part of the dominant lineages. These insertional mutants did not show significant elastase activities but showed better growth than the PAO1 reference strain in WWTL waters. Differences in growth patterns were related to a better survival of these mutants at an alkaline pH and a better ability at using some C-sources such as alanine. The opportunistic colonization of a WWTL by P. aeruginosa can involve several metabolic strategies which appeared lineage specific. Some clones appeared more successful than others at disseminating from a combined sewer toward the overflow of a WWTL.