Trisomy 15 mosaicism owing to familial reciprocal translocation t(1;15): implication for prenatal diagnosis

We describe a 4-year-old female child with severe global mental retardation, myoclonic epilepsy, proximal hypotonia and dysmorphisms, whose prenatal diagnosis following amniocentesis revealed a constitutional female karyotype carrying a t(1;15)(q10;p11) familial reciprocal translocation. Post-natal high-resolution karyotype, Fluorescence in situ hybridization (FISH) screening for subtelomeric rearrangements, VNTR search for UPD15 in the blood and fibroblast, and WCP1 and 15 in the mother, failed to provide an explanation for the complex clinical phenotype of the proband. Since the pachytene configuration of the translocated chromosomes defines a high probability of 3:1 segregation, an extensive workup was undertaken to look for a possibly cryptic mosaicism. Four percent of the cells with trisomy 15 was found in the peripheral blood lymphocytes examined by classical cytogenetic technique and interphase FISH analysis. The clinical features associated with cryptic trisomy 15 mosaicism and the problems concerning prenatal diagnosis and genetic counselling for carriers of translocations at high risk of 3:1 segregation are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Using state administrative data to study nonfatal worker injuries: challenges and opportunities

PROBLEM: Administrative data from states have the potential to capture broader representation of worker injury, facilitating examination of trends, correlates, and patterns. While many states use their workers' compensation (WC) data to document frequency and type of injury, few conduct in-depth examinations of patterns of injury and other etiologies. Administrative data are generally an untapped resource. METHOD: Comparisons are made among four state databases used in a study linking worker injuries and patient outcomes in hospitals and nursing homes. RESULTS: Worker injury data varies in terms of inclusion criteria, variables, and coding schemes used. Linkages to organizational level characteristics can be difficult. CONCLUSIONS: Despite limitations, data can be used to study injury patterns and etiologies. Users must be knowledgeable and recognize how database characteristics may influence results.     

Differences in the effects of simulated sea aerosol on water relations, salt content, and leaf ultrastructure of rock-rose plants

White-leaf rock-rose (Cistus albidus L.) and Montpellier rock-rose (C. monspeliensis L.) plants were sprayed 2 to 3 min per day over a 7-d period, in an unheated plastic greenhouse, with different aqueous solutions containing deionized water alone (control); an anionic surfactant (sodium dodecylbenzenesulfonate 82.5%, 50 mg L(-1)) (S1); a solution simulating the composition of sea aerosol (S2); and a solution simulating sea aerosol with anionic surfactant (S3). White-leaf rock-rose was more sensitive to sea aerosol, showing greater leaf damage and markedly decreased growth, and the presence of surfactant enhanced the phytotoxic effect leading to greater increases in mortality. Montpellier rock-rose did not appear to be more adversely affected when surfactant was used in combination with sea aerosol, and manifested slight or less severe symptoms than white-leaf rock-rose. There was a significant increase in leaf turgor potential in the plants treated with both sea aerosol treatments by osmotic adjustment effect. The decrease in photosynthesis level seems to be due to both stomatal and nonstomatal factors. The results of microscopical analysis of Montpellier rock-rose plants show that sea aerosol treatment caused alterations in the chloroplast structure, reducing the starch grain and swelling the thylakoid membranes. The results of this study indicated that Montpellier rock-rose was more tolerant to sea aerosol than white-leaf rock-rose, showing a lower reduction in plant growth and less leaf damage, probably because of its ability to compartmentalize the toxic ions at the intracellular level.     

Environmental impact of unleaded gasolines in the bay of Cádiz (Spain)

Given the strategic situation of the José León de Carranza bridge, which spans the Bay of Cádiz (in the SW of Spain) and carries very heavy motor traffic, together with knowledge of the currents and tidal flows in the zone, we have used a technique of radioactive dating of sediments to study the temporal evolution presented by contamination from lead in the sediment column. This has allowed us to observe the environmental impact, in terms of the concentration of Pb in the sea bed sediments, that has been produced in the zone by the introduction of unleaded gasolines as substitutes for traditional automobile fuels that employ organic forms of tetra methyl lead as an antidetonant agent in the fuel.     

Assessment of contamination by heavy metals and petroleum hydrocarbons in sediments of Montevideo Harbour (Uruguay)

As part of the first environmental assessment within Montevideo Harbour, in summer and winter of 1998, sediments samples were collected at eight locations to determine the spatial distribution of anthropogenic pollutants. Muddy sediments with high organic matter content dominate the study area. Heavy metal levels indicated that sediments were highly polluted with Zn (overall mean: 312+/-102 microg g(-1) dry sediment), Pb (85+/-31), Cu (89+/-25), Cr (162+/-62), and Hg (0.63+/-0.3) and moderately with Ni (30+/-2) and Ag (1.2+/-0.4). Depending on location and season, aliphatic hydrocarbons reached from 21 to 120 microg g(-1), while the unresolved complex mixture represented up to 76% of the total aliphatic fraction. Total PAH concentrations ranged from 1.56 to 90.44 microg g(-1); except at one location, petroleum derivatives were identified as main local source. The results pointed out that almost all the harbour area presented some substances that can cause adverse biological effects, especially in the inner region where all metals are above PEL levels. Principal components analysis confirmed that the inner harbour region is most severely affected by the pollutants and it was possible to differentiate three regions according to their environmental quality.     

Uranium-238 and thorium-232 series concentrations in soil, radon-222 indoor and drinking water concentrations and dose assessment in the city of Aldama, Chihuahua, Mexico

High-resolution gamma spectrometry was used to determine the concentration of 40K, 238U and 232Th series in soil samples taken from areas surrounding the city of Aldama, in Chihuahua. Results of indoor air short-time sampling, with diffusion barrier charcoal detectors, revealed relatively high indoor radon levels, ranging from 29 to 422 Bq/m3; the radon concentrations detected exceeded 148 Bq/m3 in 76% of the homes tested. Additionally, liquid scintillation counting showed concentrations of radon in drinking water ranging from 4.3 to 42 kBq/m3. The high activity of 238U in soil found in some places may be a result of the uranium milling process performed 20 years ago in the area. High radon concentrations indoor and in water may be explained by assuming the presence of uranium-bearing rocks underneath of the city, similar to a felsic dike located near Aldama. The estimated annual effective dose of gamma radiation from the soil and radon inhalation was 3.83 mSv.     

Biowaste effects on soil and native plants in a semiarid ecosystem

Many soils of the Mediterranean region with a semiarid climate are subjected to progressive degradation as a result of water erosion. Biosolids and municipal solid wastes (MSW) were surface-applied once at three rates (40, 80, and 120 Mg ha(-1)) to different plots in a degraded semiarid ecosystem. The study was conducted to determine the effects of such applications on soil chemical properties and native vegetation over a three-year period. Soil N, P, and K initially increased with increasing biowaste application rates, but then decreased over time. Levels of Zn and Cu were higher in MSW than biosolid-treated plots, and increased in both years after application. Concentrations of soil Cd, Pb, Ni, and Cr did not change as a result of biowaste amendment in the study period. The growth of native plants was enhanced by the addition of biowastes. Total plant canopy and plant biomass increased significantly and remained higher in all treatments than in the control plot over the three-year period. The species richness of native plants decreased with increasing biowaste rates. Differences in the development of native plant communities between treatments were observed, and were more remarkable three years after biowaste application. Tissue N, P, K, Zn, and Cu levels increased with the biowaste application rate, but concentrations of tissue Pb, Cd, Ni, and Cr did not increase significantly. Biowastes applied at the rate of 80 Mg ha(-1) gave rise to the most favorable soil and native vegetation results while avoiding environmental risks.     

Fed-batch and batch operating mode analysis of a stirred anaerobic sequencing reactor with self-immobilized biomass treating low-strength wastewater

This work presents an analysis of a stirred anaerobic sequencing discontinuous reactor with different substrate feeding strategies resulting in batch, fed-batch/batch and fed-batch operating modes. The reactor, containing granulated biomass, was fed with approximately 2.0L of synthetic domestic wastewater with Chemical Oxygen Demand of nearly 500 mg/L per cycle and operated at 30 degrees C and 50 rpm. Three feeding strategies with a total cycle time of 6 h, including 30-min settling, were adopted: batch mode with a fill cycle of 6 min, a fed-batch/batch mode with fill cycles of 60, 120 and 240 min and fed-batch mode with a fill cycle of 320 min. The system attained average non-filtered and filtered substrate removal efficiency of 78 and 84%, respectively, for all operating conditions, presenting good stability, solid retention and no granule break-up. A first order kinetic model with a residual organic matter concentration was proposed to analyze the influence of the feeding strategy on the performance during a cycle and bicarbonate alkalinity and total volatile acids concentration profiles were also quantified in order to verify the transient stability behavior.     

Landform Classification for Land Use Planning in Developed Areas: An Example in Segovia Province (Central Spain)

Landform-based physiographic maps, also called land systems inventories, have been widely and successfully used in undeveloped/rural areas in several locations, such as Australia, the western United States, Canada, and the British ex-colonies. This paper presents a case study of their application in a developed semi-urban/suburban area (Segovia, Spain) for land use planning purposes. The paper focuses in the information transfer process, showing how land use decision-makers, such as governments, planners, town managers, etc., can use the information developed from these maps to assist them. The paper also addresses several issues important to the development and use of this information, such as the goals of modern physiography, the types of landform-based mapping products, the problem of data management in developed areas, and the distinctions among data, interpretations, and decisions.     

Alarm communication: a new function for the scent-gland secretion in harvestmen (Arachnida: Opiliones)

Most harvestmen are nocturnal, nonacoustical, and nonvisual arthropods. They have a pair of exocrine glands on the cephalothorax that produce defensive volatile secretions. We investigated in the field the possible alarm effect of these secretions in the gregarious harvestman Goniosoma aff. proximum. A cotton swab soaked with the species' own exudate (treatment), or with water (control), was held 1-2 cm from the center of harvestmen aggregations. The results showed that the gland secretion elicits an alarm response in Goniosoma: whereas 73.3% of the aggregations dispersed after being stimulated with the gland exudate, only 3.3% responded to the water control. Respondent groups are larger than nonrespondent groups, and the time of reaction to the secretion was inversely related to group size. This is the first demonstration of a chemically-mediated alarm effect in harvestmen. The alarm response in gregarious harvestmen has possibly evolved as a by-product of a primarily defensive reaction in the context of predator avoidance. The discovery of this novel function of scent-gland secretion is meaningful in view of the widespread occurrence of gregarious habit among species of the order Opiliones.