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?     

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.     

Assessment of heavy metals phytotoxicity using seed germination and root elongation tests: a comparison of two growth substrates

Seed germination and root elongation test is used to evaluate hazardous waste sites and to assess toxicity of organic and inorganic compounds. Paper substrate, especially circular filter paper placed inside a Petri dish has long been used for this test. Same reports indicate that filter paper might interfere with the toxicity of inorganic substances, especially metal cations. This study evaluate toxicity of Cd, Pb, Ni, Cu on lettuce, broccoli, tomato and radish seed using two bed material: agar and filter paper. The results show that percent germination is not affected by substrates; vice versa, as for root elongation, the test in agar showed to be more sensible than that the one on filter paper. The radical growth inhibition depends on the metal, on the tested concentration and on the species; among the tested metals, cadmium was the one determining the highest toxic effects on different species and lettuce was the plant that suffered more. From the comparison, it is clearly evident the greater sensibility of the test in agar; on the other hand, the lower sensibility of the test on the filter paper might be caused by the partial and not homogeneous exposition of the root to metal cations.     

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.     

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.     

Development of processes for environmental protection based on self-propagating reactions

The possibility of exploiting self-propagating reactions for environmental protection is discussed in this paper. In particular, results obtained at the laboratory scale and related to the fixation and consolidation of high level radioactive wastes, the recycling of silicon sludge and aluminum dross produced by semiconductor industries and aluminum foundries, the treating and recycling of a highly toxic solid waste from electrolytic zinc plants, and the degradation of chlorinated aromatics, are examined with particular emphasis on the latter case. Specifically, the self-propagating destruction of hexachlorobenzene and 2-(2-4-dichlorophenoxy)-propanoic acid with calcium hydride as reductive substrate is demonstrated. In fact, the heat liberated by the reactions involved is large enough to guarantee the self-sustaining character of the process within a wide range of reactants compositions. Moreover, no residual chlorinated organic compounds were found in the final solid product. Some reactor engineering aspects, as well as other significant future scientific and technological issues, are also addressed in view of large-scale applicability of processes based on self-propagating reactions. To date, the batch reactor technology seems to be more easily applicable, although the use of continuous reactors is not excluded in the next future.