Genetic considerations in the prenatal diagnosis of overgrowth syndromes

Large (>90%) for gestational age (LGA) fetuses are usually identified incidentally. Detection of the LGA fetus should first prompt the provider to rule out incorrect dates and maternal diabetes. Once this is done, consideration should be given to certain overgrowth syndromes, especially if anomalies are present. The overgrowth syndromes have significant clinical and molecular overlap, and are associated with developmental delay, tumors, and other anomalies. Although genetic causes of overgrowth are considered postnatally, they are infrequently diagnosed prenatally. Here, we review prenatal sonographic findings in fetal overgrowth syndromes, including Pallister-Killian, Beckwith-Wiedemann, Sotos, Perlman, and Simpson-Golabi-Behmel. We also discuss prenatal diagnosis options and recurrence risks. Copyright © 2009 John Wiley & Sons, Ltd.     

Stoffflussanalyse von quartären Ammoniumverbindungen für die Schweiz

Background, aim, and scope Compared to other micropollutants such as pesticides or pharmaceuticals, less attention has been paid to biocides so far. A prioritisation of the biocides currently used in Switzerland in terms of pollution of waters revealed that quaternary ammonium compounds (QAC), the isothiazolinones chloromethylisothiazolinone and benzisothiazolinone as well as Irgarol exhibit the highest risk potential. The QAC benzalkoniumchloride (BAC) and didecyldimethylammoniumchloride (DDAC-C10) are used in considerable amounts and have a high biological activity. Materials and methods The emissions of selected QAC in waters and soil and the predicted environmental concentrations (PECs) were estimated by means of a substance flow analysis (SFA). The study was based on data from the Swiss products register, on literature, contacts to producers and users as well as on own assumptions. Results and discussion The consumption of BAC (four homologues) and DDAC-C10 in biocidal applications in Switzerland amounts to 90 and 30 tons annually. The most important applications are disinfectants for public health areas, food and feed areas as well as wood preservatives. The total emissions to the environment of all five substances account for approximately 11?t/a. The PECs in surface waters and sediments vary from values slightly lower than the predicted no-effect concentration (PNEC) to roughly three orders of magnitude below the PNEC. However, concentrations above the PNEC are possible at certain locations, particularly downstream of wastewater treatment plants (WWTP) effluents and sewer overflows. Effects on aquatic organisms can therefore not be excluded. Three BAC homologues could not be assessed, as there were no PNEC values available. Conclusions The contribution of emissions from WWTP (punctual emissions) to the environment is only about one tenth and relatively low compared to diffuse emissions. This means that measures for the emission reduction focussing only on end-of-pipe solutions in WWTP will not reduce the emissions significantly. Moreover, for the evaluation of measures, attention has to be paid to the fact that biocides such as the selected QAC are often also applied in non-biocidal applications (e.?g. three times higher volumes in the case of BAC). Recommendations and perspectives SFA serves as a useful tool for early recognition of environmental problems caused by chemicals. This allows recommending appropriate risk reduction measures in the production, the use and the end-of-life phase. It is advisable to use the SFA already in the development stage of chemicals and later on as a quality control tool. The relevant sources of chemicals and sinks in the environment can thus be determined in complex systems, even in absence of extensive measurements or product registers with consumption figures by means of estimations and scenarios.     

Bayesian Small Area Models for Assessing Wildlife Conservation Risk in Patchy Populations

Abstract:  Species conservation risk assessments require accurate, probabilistic, and biologically meaningful maps of population distribution. In patchy populations, the reasons for discontinuities are not often well understood. We tested a novel approach to habitat modeling in which methods of small area estimation were used within a hierarchical Bayesian framework. Amphibian occurrence was modeled with logistic regression that included third-order drainages as hierarchical effects to account for patchy populations. Models including the random drainage effects adequately represented species occurrences in patchy populations of 4 amphibian species in the Oregon Coast Range (U.S.A.). Amphibian surveys from other locations within the same drainage were used to calibrate local drainage-scale effects. Cross-validation showed that prediction errors for calibrated models were 77% to 86% lower than comparable regionally constructed models, depending on species. When calibration data were unavailable, small area and regional models performed similarly, although poorly. Small area estimation models complement wildlife ecology and habitat studies, and can help managers develop a regional picture of the conservation status for relatively rare species.