Psychological consequences of prenatal diagnosis in a case of familial Angelman Syndrome

Angelman Syndrome (AS), characterized by mental retardation, absence of speech, seizures and motor dysfunction, is caused by genetic defects leading to loss of expression of the maternal copy of the chromosome 15q11–13 imprinted region. Most cases are sporadic, being caused by de novo deletion of maternal chromosome 15q11–13 (75%) or by paternal uniparental disomy (3–4%). Familial cases can occur, due to mutations in the UBE3A gene or in the imprinting center. We describe the case of a pregnant woman having two nephews with AS caused by a UBE3A mutation; lack of communication within the family led the woman to be completely unaware of the risk of disease recurrence until 15 weeks of gestation. UBE3A genetic testing revealed she carried the familial mutation 892–893delCT. Prenatal diagnosis was performed on amniotic fluid and demonstrated that the fetus had inherited the mutation. The unexpected diagnosis and the subsequent termination of the pregnancy caused the woman to undergo acute psychological distress showing relevant psychopathological symptoms. Nevertheless, at 2-year follow-up, adverse consequences were minimized, and the couple was planning a new pregnancy. Factors affecting the psychological outcome of abortion and the role of psychological support in reducing the risk of long-term unfavorable consequences are discussed. Copyright © 2006 John Wiley & Sons, Ltd.     

Slurry wall containment performance: monitoring and modeling of unsaturated and saturated flow

A specific 2-year program to monitor and test both the vadose zone and the saturated zone, coupled with a numerical analysis, was performed to evaluate the overall performance of slurry wall systems for containment of contaminated areas. Despite local physical confinement (slurry walls keyed into an average 2-m-thick aquitard), for at least two decades, high concentrations of chlorinated solvents (up to 110 mg l^− 1) have been observed in aquifers that supply drinking water close to the city of Milan (Italy). Results of monitoring and in situ tests have been used to perform an unsaturated-saturated numerical model. These results yielded the necessary quantitative information to be used both for the determination of the hydraulic properties of the different media in the area and for the calibration and validation of the numerical model. Backfill material in the shallower part of the investigated aquifer dramatically affects the natural recharge of the encapsulated area. A transient simulation from wet to drought periods highlights a change in the ratio between leakages from lateral barriers that support a specific scenario of water loss through the containment system. The combination of monitoring and modelling allows a reliable estimate of the overall performance of the physical confinement to be made without using any invasive techniques on slurry wall.     

Prenatal ultrasound diagnosis of a case of Pfeiffer syndrome without cloverleaf skull and review of the literature

Pfeiffer syndrome is characterized by bilateral coronal craniosynostosis, midface hypoplasia, beaked nasal tip, broad and medially deviated thumbs and great toes. Originally, it was described in eight persons from three generations in a pedigree consistent with an autosomal dominant transmission. Since then, several reports have documented its high clinical and genetic heterogeneity. The condition is usually detected in the newborn period or later, and very few prenatal ultrasound diagnoses have been reported. We present a case of Pfeiffer syndrome prenatally diagnosed at 20 weeks' gestation, in which the sonographic features of craniosynostosis, hypertelorism associated with an extreme proptosis, and broad thumb led to the diagnosis, confirmed after termination of pregnancy by dysmorphological, pathological and radiological evaluation. DNA analysis of the fibroblast growth factor receptor 2 (FGFR2) showed a missense mutation consisting in a transversion G → C at nucleotide 870. This led to a Trp290Cys amino acidic substitution. We discuss the relevant findings of our and previously published cases. Our report demonstrates that a careful sonographic examination can lead to an early prenatal diagnosis of Pfeiffer syndrome also in cases without cloverleaf skull. Copyright © 2004 John Wiley & Sons, Ltd.     

PCDD/F and dioxin-like PCB profiles in soils amended with sewage sludge,compost, farmyard manure,and mineral fertilizer since 1962

Background, aim, and scope  

Biowaste contains compounds of agricultural value such as organic carbon, nutrients, and trace elements and can partially replace mineral fertilizer (MIN) and improve the physical properties of the soil. However, the obvious benefits of land spreading need to be carefully evaluated against potential adverse effects on the environment and human health. Environmental contamination resulting from biowaste application is one of the key variables when assessing cost/benefits. This study provides data on the resulting concentration of polychlorinated dibenzodioxins and dibenzofurans (PCDD/Fs) and dioxin-like polychlorinated biphenyls (DL-PCBs) in the soil column as a result of the different types of fertilizers.     

Simulating the production and dispersion of environmental pollutants in aerosol phase in an urban area of great historical and cultural value

Mathematical models were developed to simulate the production and dispersion of aerosol phase atmospheric pollutants which are the main cause of the deterioration of monuments of great historical and cultural value. This work focuses on Particulate Matter (PM) considered the primary cause of monument darkening. Road traffic is the greatest contributor to PM in urban areas. Specific emission and dispersion models were used to study typical urban configurations. The area selected for this study was the city of Florence, a suitable test bench considering the magnitude of architectural heritage together with the remarkable effect of the PM pollution from road traffic. The COPERT model, to calculate emissions, and the street canyon model coupled with the CALINE model, to simulate pollutant dispersion, were used. The PM concentrations estimated by the models were compared to actual PM concentration measurements, as well as related to the trend of some meteorological variables. The results obtained may be defined as very encouraging even the models correlated poorly: the estimated concentration trends as daily averages moderately reproduce the same trends of the measured values.