Cornelia de Lange syndrome (CdLS): prenatal and autopsy findings

Cornelia de Lange Syndrome (CdLS) is a multisystem disorder characterized by somatic defects and mental retardation. Prenatal diagnosis of this severe condition is difficult in view of the non-specific ultrasound abnormalities. We report three cases with prenatally suspected CdLS based on the ultrasound findings as well as low PAPP-A detected on first trimester screening in one case, and the results of the autopsy and the NIPBL gene mutation analysis. Copyright © 2009 John Wiley & Sons, Ltd.     

Non-host organisms affect transmission processes in two common trematode parasites of rocky shores

The transmission of free-living trematode stages is mediated by various environmental factors, of which the presence of ambient organisms within the host space is a potential major determinant. In two laboratory mesocosm experiments, we investigated the influence of four intertidal rocky shore species on transmission success of cercariae of the digenean trematodes Echinostephilla patellae (encysting in the tissue of blue mussels Mytilus edulis) and Parorchis acanthus (encysting on mussel shells). Encystment success of both parasite species was significantly lower in the presence of test organisms when compared to controls. Observations revealed that barnacles Austrominius modestus actively filtered cercariae, whereas the larvae were obstructed by the seaweeds Corallina officinalis and Fucus serratus. Anemones Actinia equina both physically disturbed and consumed cercariae. In a further laboratory experiment, grazing gastropods (Littorina littorea, Patella vulgata, and Gibbula umbilicalis) were found to significantly reduce the numbers of P. acanthus metacercariae in artificially prepared dishes by ingestion of cysts. Our results suggest that non-host organisms may play a key role in regulating the transmission of free-living trematode stages in rocky shore ecosystems, which is especially important with regard to the relative diversity and density of species in these habitats. The findings also emphasize the need to include parasites into marine food webs, since cercariae seem to be consumed by certain organisms to a considerable extent and could possibly represent an important energy source.     

Fetal sexing in possible carriers for duchenne muscular dystrophy

Over a five-year period in the West Midlands there were 34 pregnancies to women who were possible carriers for Duchenne muscular dystrophy and who were known to the Department of Clinical Genetics. Fetal sexing was performed in only ten of 26 pregnancies to women of high or moderate risk, and of the five male fetuses discovered, only two were aborted. Overall, the 34 pregnancies resulted in one miscarriage, 14 males (of whom two were aborted and two were affected) and 19 females. Information was also obtained on five further possible carriers who were ascertained solely because they had an amniocentesis. These five pregnancies led to the birth of one affected male and to the termination of one male fetus.     

Investigation of the concentration and isotopic composition of inputs and outputs of Pb in waters at an upland catchment in NE Scotland

As a consequence of the accumulation of anthropogenic Pb in upland catchments, there has been much recent concern about the potential mobilisation and transport of Pb from the soils to receiving waters and also the possible harmful effects that this might have on aquatic biota. This paper presents the findings of a two-year study of Pb behaviour in an organic-rich upland catchment at Glensaugh in NE Scotland. Pb inputs to the catchment were characterised by direct measurements of Pb concentration and (206)Pb/(207)Pb ratios in rain water and interception. Pb outputs from the catchment were calculated from measurements on stream water samples taken from the two main streams, the Cairn Burn and Birnie Burn. The relative contribution of Pb from groundwater and throughflow, under different flow conditions (base flow and high flow), to stream waters was investigated via analysis of springs sourced from groundwater and of waters flowing through the various soil horizons (S (surface), A, B, C, and D), respectively. The outcome of intensive sampling and analysis over the two-year time period was that, even with marked reduction in Pb inputs over the past two decades, the catchment was still acting as a net sink for the current atmospheric deposition. Although the Pb isotopic signature for stream water is very similar to that for the contemporaneous rain water ((206)Pb/(207)Pb approximately 1.15-1.16), only a small portion of the rain water is transferred directly to stream water. Instead, the Pb input is transferred to the stream waters mainly via groundwater and it was also confirmed that the latter had a similar Pb isotopic signature. From the Pb isotopic measurements on throughflow waters, however, Pb being removed via the streams contained some previously deposited Pb, i.e. mobilisation of a small portion of soil-derived anthropogenic Pb was occurring. These findings are important not only with respect to the source/sink status of the catchment but also for calculation of the extent of retention of the current atmospheric Pb inputs, which must take account of the release of previously deposited Pb from the catchment soils, a process occurring mainly under high flow conditions.     

The simultaneous modelling of metal ion and humic substance transport in column experiments

Pulsed column experiments using Co, fulvic acid and porous sediment packing, along with up/down-flooding experiments using Eu, humic acid and intact sandstone blocks have been performed. The elution of metal and humic and their distribution along the sandstone columns have been measured. A mixed equilibrium and kinetic coupled chemical transport model has been used to simulate the results. In both cases, one exchangeable and one non-exchangeable component have been used to simulate the interaction of metal and humic substance. For the pulsed experiments, a simple equilibrium approach was used to model humic sorption, while a two component, kinetic model was required for the sandstone columns.     

Spatial Patterns of Soil Moisture as Affected by Shrubs, in Different Climatic Conditions

At three study sites, representing Mediterranean, semi-aridand mildly-arid climatic conditions, the effect of shrubs onthe spatial patterns of soil moisture was studied. At eachsite soil moisture was measured, on hillslopes, at thevicinity of 8 shrubs. For each shrub the measurements havebeen taken at 3 microenvironments, i.e. under the shrub (US),at the margins of shrub (MS) and between shrubs (BS). At themicroenvironments US and MS the measurements were taken at 3 directions: upslope, downslope and sideslope of the shrubs. At all sampling points soil samples were taken from 3 depths: 0–2, 2–5 and 5–10 cm. In addition, rock fragments cover percentage near the shrubs was determined. A soil moisture pattern was found, around each shrub,which is composed of a radial gradient and a downslope gradient. The radial gradient is expressed by soil moisture decreasingfrom the US microenvironment, in all directions, through the MS towards the BS microenvironment. The US microenvironmenthas a `spatial advantage' of higher soil moisture content dueto (1) relatively higher infiltration rate, (2) capture overlandflow from the BS area upslope that shrub and (3) low evaporationrate because of the shading effect.The downslope gradient is expressed by decreasing soil moisturefrom the upslope direction of each shrub (MS and US microenvironments) towards the downslope direction of that shrub (MS and US microenvironments, respectively). Thisgradient is controlled by the relatively high content of rockfragments near the shrubs at their upslope direction. Suchrock fragments spatial distribution is attributed to (1) thedetachment and transport of rock fragments by sheep and goatstrampling and (2) the effect of shrub on the continuity ofoverland flow and sediment transport. The effect of rockfragments is similar to that of shrubs regarding increasinginfiltration and decreasing evaporation rate. The relativelyhigh soil moisture at the upslope direction of each shrubenhances annuals growth producing a positive feedback loop:soil moisture – annuals growth – trampling. This sequencemaintains the typical rock fragments spatial organization andcontributes to the sustainability of the grazing system.At all the study sites at the US microenvironment there isa trend of decreasing soil moisture with increasing soildepth. At microenvironments MS and BS soil moisture increaseswith soil depth.The results are of great relevance for rehabilitationstrategies as they suggest that in order to combatdesertification in degraded semi-arid and mildly-arid areas,where the main land use is grazing, both shrubs and rockfragment should be kept at their present spatial distribution.     

Evaluating an Air Quality Health Index (AQHI) amendment for communities impacted by residential woodsmoke in British Columbia,Canada

ABSTRACT

Smoke from burning biomass is an important source of fine particulate matter (PM_2.5), but the health risks may not be fully captured by the Canadian Air Quality Health Index (AQHI). In May 2018, the province of British Columbia launched an evidence-based amendment (AQHI-Plus) to improve AQHI performance for wildfire smoke, but the AQHI-Plus was not developed or tested on data from the residential woodsmoke season. This study assesses how the AQHI and AQHI-Plus are associated with acute health outcomes during the cooler seasons of 2010–2017 in British Columbia, Canada. Monthly and daily patterns of temperature and PM_2.5 concentrations were used to identify Local Health Areas (LHAs) that were impacted by residential woodsmoke. The effects of the AQHI and AQHI-Plus on five acute health outcomes (including non-accidental mortality, outpatient physician visits, and medical dispensations for cardiopulmonary conditions) were estimated using generalized linear mixed effect models with Poisson distributions adjusted for long- and short-term temperature trends. Values of the Akaike information criterion (AIC) were compared to evaluate whether the AQHI or AQHI-Plus was better fitted to each health outcome. Eleven LHAs were categorized as woodsmoke-impacted. In these LHAs, the AQHI and AQHI-Plus associations with acute health outcomes were sensitive to temperature adjustments. After temperature adjustments, the most consistent associations were observed for the two asthma-specific outcomes where the AQHI-Plus was better fitted than the AQHI. The improved performance of the AQHI-Plus for susceptible populations with asthma is consistent between communities impacted by residential woodsmoke and wildfire smoke.

Implications: Canada’s Air Quality Health Index (AQHI) is a three pollutant index used to communicate the short term health impact of degraded air quality. As fine particulate matter (PM_2.5) is the lowest weighted pollutant in the AQHI, the index is poorly reflective of woodsmoke impacts. The present analysis found that an AQHI amendment developed for improved sensitivity to PM_2.5 during wildfire seasons (AQHI-Plus) is also more predictive of acute asthma-related health outcomes in communities impacted by residential woodsmoke. The BC Ministry of Environment and Climate Change Strategy has piloted the AQHI-Plus year-round. Other jurisdictions should consider whether their air quality indices are reflective of the risks posed by woodsmoke.     

REASSEMBLING HETCH HETCHY: WATER SUPPLY WITHOUT O'SHAUGHNESSY DAM1

The Hetch Hetchy System provides San Francisco with most of its water supply. O'Shaughnessy Dam is one component of this system, providing approximately 25 percent of water storage for the Hetch Hetchy System and none of its conveyance. Removing O'Shaughnessy Dam has gained interest for restoring Hetch Hetchy Valley. The water supply feasibility of removing O'Shaughnessy Dam is analyzed by examining alternative water storage and delivery operations for San Francisco using an economic engineering optimization model. This model ignores institutional and political constraints and has perfect hydrologic foresight to explore water supply possibilities through reoperation of other existing reservoirs. The economic benefits of O'Shaughnessy Dam and its alternatives are measured in terms of the quantity of water supplied to San Francisco and agricultural water users, water treatment costs, and hydropower generation. Results suggest there could be little water scarcity if O'Shaughnessy Dam were to be removed, although removal would be costly due to additional water treatment costs and lost hydropower generation.     

Water scarcity: An alternative view and its implications for policy and capacity building

This article focuses on the somewhat ambiguous concept of scarce water, or, more accurately stated, on the rather more ambiguous concept of scarcity. Still today, water scarcity in a region is defined largely in physical terms, typically gallons or cubic metres per capita if a stock or per capita-year if a flow. However useful purely physical measures may be for broad comparisons, they cannot adequately reflect the variety of ways in which human beings use water — neither to their wastefulness when water is perceived as abundant nor to their ingenuity when it is not. This article argues that water scarcity should be defined according to three orders of scarcity that require, respectively, physical, economic and social adaptations. It goes on to demonstrate that perceiving scarcity mainly in physical terms limits opportunities for policy-making and approaches for capacity building.     

Human maternal uniparental disomy for chromosome 16 and fetal development

Two severely growth-retarded fetuses found to have maternal uniparental disomy (UPD) for chromosome 16 and trisomy 16 placental mosaicism both had an unfavourable outcome. Antenatally, the first case was complicated by an unexplained raised maternal serum alpha-fetoprotein concentration, preterm premature rupture of the membranes, and growth retardation detectable at 21 weeks' gestation, whilst the other had an unexplained raised maternal serum human chorionic gonadotrophin level, a two-vessel cord on ultrasound, and cessation of growth at 25 weeks. At post-mortem, both babies had an imperforate anus. Fetal maternal UPD may explain the poor outcome that occurs in some cases of confined placental mosaicism for chromosome 16 and is also associated with specific fetal abnormalities.