Maternal UPD 20 in an infant from a pregnancy with mosaic trisomy 20

Maternal uniparental disomy (UPD) 20 was found in a 35-month-old girl, the product of a pregnancy complicated by a prenatal diagnosis of mosaic trisomy 20. Phenotypic abnormalities included pre- and postnatal growth failure, microcephaly, minor dysmorphic features and psychomotor developmental delay. Chromosomal analysis on cord blood revealed only a normal 46,XX karyotype. Microsatellite analysis of 27 chromosome 20 loci confirmed maternal UPD for all 11 informative markers. Maternal heterodisomy was detected in two and maternal isodisomy in three loci. In the remaining six loci, a non-informative maternal UPD pattern was displayed, as mother and proband are homozygous for the same allele. To our knowledge this is the first reported case of maternal disomy 20 with normal karyotype ascertained by a mosaic trisomy 20 pregnancy. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal diagnosis of exophytic nevus sebaceous of the scalp

Nevus sebaceous is a complex hamartoma most commonly found on the scalp, face, and neck and is often present at birth, although some may be diagnosed later in infancy. We report the first prenatal diagnosis of isolated nevus sebaceous that presented at 19 weeks' gestation as a large and exophytic tumor of the scalp. This case emphasizes the crucial role of ultrasound examination performed with high-frequency probes, which revealed associated diffuse lesions of the face. Identification of such a facial involvement could have a dramatic prognostic impact. © 2013 John Wiley & Sons, Ltd.     

Assessment of enrichment,geo-accumulation and ecological risk of heavy metals in surface sediments of the Msimbazi mangrove ecosystem,coast of Dar es Salaam,Tanzania

Results of the assessment of enrichment, accumulation and the ecological risk associated with three heavy metals (Cd, Cu and Pb) and one metalloid (As) in surface sediments of Msimbazi estuary are presented. Surface sediment samples (0–5 cm) were collected from Msimbazi River estuary in September 2016 using handheld PVC short corers. Long-sediment cores from the site were also collected using PVC pipes and their vertical profiles of metals concentrations assessed with the aim of establishing site-specific baseline metals concentrations. The established site-specific baseline values were used for the determination of normalised enrichment factors (EF) and geoaccumulation (Igeo) of metals instead of using average crustal values. Iron-based enrichment factors show that the sediments of Msimbazi have experienced enrichment of metals that originate from anthropogenic sources of pollution (EF > 1). Geo-accumulation results indicate that Msimbazi sediments can be designated as uncontaminated to moderately-contaminated with As, Cd and Pb (class 1–2). Geoaccumulation indices for Cu indicate that sediment can be designated as uncontaminated to moderately contaminated (class 1) and moderately to strongly contaminated (class 3). Results show further that the Ecological Risk associated with the accumulation of these metals in Msimbazi sediments was low based on Hakanson approach.     

Tree species effect on the redistribution of soil metals

Phytostabilization of metals using trees is often promoted although the influence of different tree species on the mobilization of metals is not yet clear. Soil and biomass were sampled 33 years after planting four tree species (Quercus robur, Fraxinus excelsior, Acer pseudoplatanus, Populus 'Robusta') in a plot experiment on dredged sediment. Poplar took up high amounts of Cd and Zn and this was associated with increased Cd and Zn concentrations in the upper soil layer. The other species contained normal concentrations of Cd, Cu, Cr, Pb and Zn in their tissues. Oak acidified the soil more than the other species and caused a decrease in the concentration of metals in the upper soil layer. The pH under poplar was lower than expected and associated with high carbon concentrations in the top soil. This might be assigned to retardation of the litter decomposition due to elevated Cd and Zn concentrations in the litter.     

Phytoextraction of metals from soils: how far from practice?

For most trace elements, the technique of phytoextraction needs significant improvements to become practically feasible. Calculations for Cd revealed that the amount of Cd taken up by Thlaspi caerulescens or Salix spp. needs at least to be the double of the present amount to slightly decrease the Cd concentration in the upper 0.5m of the soil within a period of 10 years. Additionally, metals taken up by the plants might pose an important risk. Alternatives as bioavailable contaminant stripping and phytostabilization might be more appropriate.     

Ozone uptake (flux) as it relates to ozone-induced foliar symptoms of Prunus serotina and Populus maximowiziixtrichocarpa

Field studies were conducted during 2003 and 2004 from early June to the end of August, at 20 sites of lower or higher elevation within north-central Pennsylvania, using seedlings of black cherry (Prunus serotina, Ehrh.) and ramets of hybrid poplar (Populus maximowiziixtrichocarpa). A linear model was developed to estimate the influence of local environmental conditions on stomatal conductance. The most significant factors explaining stomatal variance were tree species, air temperature, leaf vapor pressure deficit, elevation, and time of day. Overall, environmental factors explained less than 35% of the variation in stomatal conductance. Ozone did not affect gas exchange rates in either poplar or cherry. Ozone-induced foliar injury was positively correlated with cumulative ozone exposures, expressed as SUM40. Overall, the amount of foliar injury was better correlated to a flux-based approach rather than to an exposure-based approach. More severe foliar injuries were observed on plants growing at higher elevations.