Prenatal ultrasound diagnosis of Toriello–Carey syndrome

Toriello–Carey syndrome is a rare malformative complex, described for the first time in 1988, characterized by agenesis of the corpus callosum, facial anomalies, cardiac defects and hypotonia. Relatively few neonatal cases have been reported. We describe here the first prenatal ultrasound diagnosis of the syndrome based on the detection of agenesis of the corpus callosum and spongious cardiomyopathy in a 22-week-old fetus of a couple with positive family history. The first sib of the couple was diagnosed with Toriello–Carey syndrome at 1 year of age, and had, in addition to the typical facial anomalies not detectable by ultrasound, agenesis of the corpus callosum and the same heart lesion (spongious cardiomyopathy). This report demonstrates that prenatal diagnosis of Toriello–Carey syndrome is feasible in the second trimester of pregnancy. Copyright © 2002 John Wiley & Sons, Ltd.     

Climatic and environmental change in the Karakoram: making sense of community perceptions and adaptation strategies

In this paper, we investigate how mountain communities perceive and adapt to climatic and environmental change. Primary data were collected at community and household level through in-depth interviews, focus group discussions, and quantitative questionnaires covering 210 households in six villages of the West Karakoram (Hundur and Darkut in the Yasin Valley; Hussainabad, Altit, Gulmit, and Shiskat in the Hunza valley of Gilgit-Baltistan). The relevance of the area with respect to our scopes is manifold. First, this is one of the most extreme and remote mountainous areas of the world, characterized by complex and fragile institutional and social fabrics. Second, this region is one of the focal points of research for the hydro-meteo-climatological scientific community, because of its relevance in terms of storage and variability of water resources for the whole Indus basin, and for the presence of conflicting signals of climate change with respect to the neighboring regions. Third, the extreme hardships due to a changing environment, as well as to the volatility of the social and economic conditions are putting great stress on the local population. As isolating climate change as a single driver is often not possible, community perceptions of change are analyzed in the livelihood context and confronted with multi-drivers scenarios affecting the lives of mountain people. We compare the collected perceptions with the available hydro-climatological data, trying to answer some key questions such as: how are communities perceiving, coping with, and adapting to climatic and environmental change? Which are the most resorted adaptation strategies? How is their perception of change influencing the decision to undertake certain adaptive measures?     

Furniture wood wastes: Experimental property characterisation and burning tests

Referring to the industrial wood waste category (as dominant in the provincial district of Pesaro-Urbino, Marche Region, Italy), this paper deals with the experimental characterisation and the carrying out of non-controlled burning tests (at lab- and pilot-scale) for selected “raw” and primarily “engineered” (“composite”) wood wastes.The property characterisation has primarily revealed the following aspects: potential influence on moisture content of local weather conditions at outdoor wood waste storage sites; generally, higher ash contents in “engineered” wood wastes as compared with “raw” wood wastes; and relatively high energy content values of “engineered” wood wastes (ranging on the whole from 3675 to 5105 kcal kg⁻¹ for HHV, and from 3304 to 4634 kcal kg⁻¹ for LHV).The smoke qualitative analysis of non-controlled lab-scale burning tests has primarily revealed: the presence of specific organic compounds indicative of incomplete wood combustion; the presence exclusively in “engineered” wood burning tests of pyrroles and amines, as well as the additional presence (as compared with “raw” wood burning) of further phenolic and containing nitrogen compounds; and the potential environmental impact of incomplete industrial wood burning on the photochemical smog phenomenon.Finally, non-controlled pilot-scale burning tests have primarily given the following findings: emission presence of carbon monoxide indicative of incomplete wood combustion; higher nitrogen oxide emission values detected in “engineered” wood burning tests as compared with “raw” wood burning test; and considerable generation of the respirable PM₁ fraction during incomplete industrial wood burning.     

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.     

The BIOTA Biodiversity Observatories in Africa—a standardized framework for large-scale environmental monitoring

The international, interdisciplinary biodiversity research project BIOTA AFRICA initiated a standardized biodiversity monitoring network along climatic gradients across the African continent. Due to an identified lack of adequate monitoring designs, BIOTA AFRICA developed and implemented the standardized BIOTA Biodiversity Observatories, that meet the following criteria (a) enable long-term monitoring of biodiversity, potential driving factors, and relevant indicators with adequate spatial and temporal resolution, (b) facilitate comparability of data generated within different ecosystems, (c) allow integration of many disciplines, (d) allow spatial up-scaling, and (e) be applicable within a network approach. A BIOTA Observatory encompasses an area of 1?km² and is subdivided into 100 1-ha plots. For meeting the needs of sampling of different organism groups, the hectare plot is again subdivided into standardized subplots, whose sizes follow a geometric series. To allow for different sampling intensities but at the same time to characterize the whole square kilometer, the number of hectare plots to be sampled depends on the requirements of the respective discipline. A hierarchical ranking of the hectare plots ensures that all disciplines monitor as many hectare plots jointly as possible. The BIOTA Observatory design assures repeated, multidisciplinary standardized inventories of biodiversity and its environmental drivers, including options for spatial up- and downscaling and different sampling intensities. BIOTA Observatories have been installed along climatic and landscape gradients in Morocco, West Africa, and southern Africa. In regions with varying land use, several BIOTA Observatories are situated close to each other to analyze management effects.     

Spatiotemporal analysis of the PM10 concentration over the Taranto area

In this paper, an analysis of air quality data is provided for the municipal area of Taranto (southern Italy) characterized by high environmental risks as formally decreed by the Italian government in the 1990s with two administrative measures. This is due to the massive presence of industrial sites with elevated environmental impact activities along the NW boundary of the city conurbation. The aforementioned activities have effects on the environment and on public health, as a number of epidemiological researches concerning this area reconfirm. The present study is focused on particulate matter as measured by PM10 concentrations at 13 monitoring stations, equipped with analogous instruments based on the Beta absorption technology, either reporting hourly, two-hourly, or daily measurements. Daily estimates of the PM10 concentration surfaces are obtained in order to identify areas of higher concentration (hot spots), possibly related to specific anthropic activities. Preliminary analysis involved addressing several data problems: (1) due to the use of two different validation techniques, a calibration procedure was devised to allow for data comparability; (2) imputation techniques were considered to cope with the large number of missing data, due to both different working periods and occasional malfunctions of PM10 sensors; and (3) reliable weather covariates (wind speed and direction, pressure, temperature, etc.) were obtained and considered within the analysis. Spatiotemporal modelling was addressed by a Bayesian kriging-based model proposed by Le and Zidek (2006) characterized by the use of time varying covariates and a semiparametric covariance structure. Advantages and disadvantages of the model are highlighted and assessed in terms of fit and performance. Estimated daily PM10 concentration surfaces are suitable for the interpretation of time trends and for identifying concentration peaks within the urban area.     

EGG PRODUCTION AND HATCHING SUCCESS IN NORTH ADRIATIC SEA POPULATIONS OF THE COPEPOD Acartia clausi

Egg production, fecal pellet production and hatching success are reported for Acartia clausi females sampled during three cruises in February 1997, 1998 and June 1997 at 20-24 stations along 4 transects in the North Adriatic Sea. Dramatically low hatching rates were recorded during both diatom bloom events in February as opposed to much higher rates during post-bloom conditions in June, even though A. clausi productivity during the bloom was apparently high. These results are discussed in the light of recent findings on the negative impact of diatoms on copepod reproductive potential.     

Egg production and hatching success in North Adriatic Sea populations of the copepod acartia clausi

Egg production, fecal pellet production and hatching success are reported for Acartia clausi females sampled during three cruises in February 1997, 1998 and June 1997 at 20-24 stations along 4 transects in the North Adriatic Sea. Dramatically low hatching rates were recorded during both diatom bloom events in February as opposed to much higher rates during post-bloom conditions in June, even though A. clausi productivity during the bloom was apparently high. These results are discussed in the light of recent findings on the negative impact of diatoms on copepod reproductive potential.     

Minimizing external indirect health costs due to aerosol population exposure: a case study from Northern Italy

Environmental Agencies require Decision Support Systems, in order to plan Air Quality Policies considering the cost of emission reduction measures and the human health effects (with related social costs). The use of Decision Support Systems is also useful to spread information to general public, explaining the effectiveness of proposed air quality plans. In this paper, a multi-objective approach to control PM10 concentration at a regional level is presented. The problem considers both the internal costs (due to the implementation of emission reduction measures) and the external costs (due to population exposure to high PM10 concentrations). To model PM10 concentrations, a single surrogate model is used for the entire domain, allowing the implementation of a very efficient optimization procedure. The surrogate model is derived through a set of 10 simulations, performed using a Chemistry Transport Model fed with different emission reduction scenarios. The methodology is applied to Northern Italy, a region affected by very high PM10 concentrations that exceed the limit values specified by the EU legislation.     

Occurrence of pesticides in surface water bodies: a critical analysis of the Italian national pesticide survey programs

In recent years, several monitoring programs have been established as a consequence of EU Directives which include requirements for monitoring the quality of water resources (drinking water, groundwater and surface water). Plant protection products (PPPs) are an obvious target for monitoring activities, since they are directly released into the environment. In Italy, the National Environmental Protection Agency (ISPRA ex APAT) has recently published two reports containing the results of the National Plans for Control of Environmental Effects of PPP. These documents contain the collection of monitoring data related to the presence of PPP residues in surface water and groundwater. The first objective of this work was to critically analyze the results of monitoring campaigns on pesticide residues in surface waters in Italy. In particular, the paper focuses on whether and how the Italian approach satisfies the requirements of the Water Framework Directive, whether they are representative of the whole national territory, and how the utilized approach is appropriate for the characterization of risk to surface water. Starting from this analysis, some considerations about the limits of environmental monitoring as a tool for managing risk were highlighted.