Prenatal diagnosis of femur-fibula-ulna complex by ultrasonography in a male fetus at 24 weeks of gestation

We present a case of ultrasonographic prenatal diagnosis at 24 weeks of femur—fibula—ulna (FFU) complex. To our knowledge, this is the first report of an early prenatal diagnosis of FFU.     

Pitfalls in molecular diagnosis in a family with severe factor VII (FVII) deficiency—misdiagnosis by direct sequence analysis using a PCR product

Molecular diagnostic tests are becoming a routine analysis in many laboratories. These modern analyses are widely used in clinical medicine, forensic, genetic and prenatal diagnosis and also in preimplantation genetic diagnosis. The accuracy of analysis is highly dependent on the success achieved in minimising genotyping errors. The pitfalls in molecular diagnostic tests can be due to a simple technique such as the polymerase chain reaction (PCR) used universally. This technique is routinely used for its apparent accuracy, but it is also a well-known source of errors. We report an error introduced during PCR reaction that leads to a wrong sequence result and consequently to a ‘false’ molecular result in a next prenatal diagnosis in a family with severe factor VII (FVII) deficiency. This error was verified using an unsuitable primer design in a rich repetitive sequence of the FVII gene that leads to a false annealing and then to a wrong molecular diagnosis. It is essential to link closely molecular data with clinical and phenotype analysis in order to avoid false-negative or false-positive results, which is of great importance to diagnosis and molecular prevention. Copyright © 2003 John Wiley & Sons, Ltd.     

Fetal translocation between chromosomes 2, 18, and 21 resolved by fish

An apparently balanced t(2q;21q) translocation was discovered in fetal blood and amniocytes of a 22-week fetus, monitored because of ultrasonographic evidence of a heart disease. FISH (fluorescence in situ hybridization) analysis disclosed a complex translocation between chromosomes 2q, 18q, and 21q, which was inherited from the healthy mother. This observation corroborates the usefulness of molecular cytogenetic techniques in raising the quality of prenatal diagnosis and detecting subtle rearrangements not resolved by standard cytogenetics.     

Forensic Evaluation of Metals (Cr,Cu, Pb,Zn), Isotopes (δ13C and δ15N), and C:N Ratios in Freshwater Sediment

A forensic approach was used to evaluate sediments from Portão Stream, including analysis of metals, carbon (C) and nitrogen (N) stable isotopes, and C:N ratios. Samples collected at various points located along the stream were tested in order to investigate a possible illegal leachate input. The studied stream is heavily impacted by sewage and industrial discharges from two cities along its course. Among the metals analyzed, chromium (Cr) was noticeably the main pollutant, showing the highest levels, above regulatory limits, downstream from some potential sources of effluents enriched with this metal. Isotope analyses revealed a general trend of depletion in the heavier isotope along the stream for C and N. The exception was one point near a hazardous waste landfill, where relatively more enriched δ¹³C and δ¹⁵N values were found. The isotope and metal analysis results indicated that this site was affected by a particular source, demonstrating the combination of these parameters could be used for the discrimination of sources in a heavily polluted stream. Nevertheless, further investigations are necessary to provide a comprehensive evaluation of the biogeochemical processes involved in the incorporation of leachate in sediments to use this analysis as evidence for the illegal leachate discharge.     

Spatial distribution of soil radon as a tool to recognize active faulting on an active volcano: the example of Mt. Etna (Italy)

This study concerns measurements of radon and thoron emissions from soil carried out in 2004 on the eastern flank of Mt. Etna, in a zone characterized by the presence of numerous seismogenic and aseismic faults. The statistical treatment of the geochemical data allowed recognizing anomaly thresholds for both parameters and producing distribution maps that highlighted a significant spatial correlation between soil gas anomalies and tectonic lineaments. The seismic activity occurring in and around the study area during 2004 was analyzed, producing maps of hypocentral depth and released seismic energy. Both radon and thoron anomalies were located in areas affected by relatively deep (5-10 km depth) seismic activity, while less evident correlation was found between soil gas anomalies and the released seismic energy. This study confirms that mapping the distribution of radon and thoron in soil gas can reveal hidden faults buried by recent soil cover or faults that are not clearly visible at the surface. The correlation between soil gas data and earthquakes depth and intensity can give some hints on the source of gas and/or on fault dynamics.     

Evaluation of a bioassays battery for ecotoxicological screening of marine sediments from Ionian Sea (Mediterranea Sea, Southern Italy)

Sediments are an ecologically important component of the aquatic environment and may play a key role in mediating the exchange of contaminants between particulate, dissolved, and biological phases. For a comprehensive assessment of potential sediment toxicity, the use of a single species may not detect toxicant with a specific mode of action. Therefore it is advisable to carry out ecotoxicological tests on a base-set of taxa utilizing test species belonging to different trophic levels. This paper describes the ecotoxicological evaluation of marine sediments from seven sites of Mar Piccolo estuary (Southern, Italy), four of them were located in the first inlet and three in the second inlet of Mar Piccolo estuary. Sediment samples from a site in Taranto Gulf were used as control sediment. Dunaliella tertiolecta, Tigriopus fulvus, Mytilus galloprovincialis, and Corophium insidiosum, were employed to identify the quality of sediments. The integration of biological tests results showed that all sampling sites located in the first inlet of Mar Piccolo were identified as toxic, according to all tests, while the sites of second inlet were found not toxic. The results obtained in this study indicate that the use of a battery of biological tests have important implications for risk assessment in estuarine e coastal waters.     

The effect of career stage on the meaning of key organizational events

This study addresses the question of how career stage affects the meaning managers attribute to key organizational events. Propositions were developed suggesting that career stage provides a frame of reference when interpreting events and that the frequency with which this frame of reference is used differs in each career stage. In depth interviews with 40 managers across three career stages supported these propositions.