A Novel Formulation for Designing a Monitoring Strategy: Application to the Design of a River Quality Monitoring System

In this work, we propose a technique to automatically optimize the monitoring of any distributed indicator (concentration of a substance along a river, blood pressure of a patient over time, etc.) for which a reliable estimate is previously available. From a mathematical point of view, the problem is based on obtaining a reliable estimate of the chosen indicator (e.g., by numerical simulation), and then solving a multi-objective optimization problem (with mixed real and integer variables) whose solution must provide an efficient and satisfactory monitoring strategy. As an illustrative case, we show the steps to follow in order to implement that strategy when designing a system for monitoring water quality in a river. Finally, we present and analyze the results when applying the proposed technique to study a real case in the Neuse River (North Carolina, USA).     

A Tool for Classification and Regression Using Random Forest Methodology: Applications to Landslide Susceptibility Mapping and Soil Thickness Modeling

Classification and regression problems are a central issue in geosciences. In this paper, we present Classification and Regression Treebagger (ClaReT), a tool for classification and regression based on the random forest (RF) technique. ClaReT is developed in Matlab and has a simple graphic user interface (GUI) that simplifies the model implementation process, allows the standardization of the method, and makes the classification and regression process reproducible. This tool performs automatically the feature selection based on a quantitative criterion and allows testing a large number of explanatory variables. First, it ranks and displays the parameter importance; then, it selects the optimal configuration of explanatory variables; finally, it performs the classification or regression for an entire dataset. It can also provide an evaluation of the results in terms of misclassification error or root mean squared error. We tested the applicability of ClaReT in two case studies. In the first one, we used ClaReT in classification mode to identify the better subset of landslide conditioning variables (LCVs) and to obtain a landslide susceptibility map (LSM) of the Arno river basin (Italy). In the second case study, we used ClaReT in regression mode to produce a soil thickness map of the Terzona catchment, a small sub-basin of the Arno river basin. In both cases, we performed a validation of the results and a comparison with other state-of-the-art techniques. We found that ClaReT produced better results, with a more straightforward and easy application and could be used as a valuable tool to assess the importance of the variables involved in the modeling.     

Data Requirements for Developing Adaptations to Climate Variability and Change

An extensive foundation of high quality data and information on the climate and on the biological, environmental and social systems affected by climate is required in order to understand the climate impact processes involved, to develop new adaptation practices, and to subsequently implement these practices. Experience of the impacts of current and past variability of climate and sea level is a prime source of information. Many practices are in use to reduce climate impacts, for example in engineering design, agricultural risk management and climate prediction services, though their roles as adaptations to climate change are not widely appreciated. While there are good data sets on some factors and in some regions, in many cases the databases are inadequate and there are few data sets on adaptation-specific quantities such as vulnerability, resilience and adaptation effectiveness. Current international action under the United Nations Framework Convention on Climate Change (UNFCCC) pays little attention to adaptation and its information requirements. Furthermore there are trends toward reduced data gathering and to restrictions on access to data sets, especially arising from cost and commercialisation pressures. To effectively respond to the changes in climate that are now inevitable, governments will need to more clearly identify adaptation as a central feature of climate change policy and make a renewed shared commitment to collecting and freely exchanging the necessary data.     

Human parvovirus B19 infection and unbalanced translocation in a case of hydrops fetalis

In a case of hydrops fetalis, serological examination showed a recent maternal human parvovirus B19 infection. Amniocentesis revealed a unique unbalanced translocation between chromosomes 3 and 11 of the fetus. The mother proved to have a balanced reciprocal translocation between chromosomes 3 and 11. A grossly macerated hydropic male fetus was delivered with a flat nose and low implanted deformed ears. Histopathological examination revealed nuclear inclusion bodies in fetal erythroid cells, confirming human parvovirus B19 infection. Parvovirus B19 DNA was demonstrated by in situ hybridization in the nuclei of heart muscle cells. Our finding of two different disorders in one case illustrates the importance of a complete evaluation of every case of hydrops fetalis, especially concerning counselling on the outcome of future pregnancies. The human parvovirus B19 infection will not recur due to the acquired immunity of the mother, whereas the balanced reciprocal translocation will endanger future pregnancies.     

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 the prenatal diagnosis of peroxisomal β-oxidation defects by chorionic villus sampling

Variability in the level of expression of very long chain fatty acids (VLCFAs) is documented in cultured chorionic villus (CV) cells derived from two fetuses, one at risk for an unusual peroxisomal fatty acid β-oxidation defect, and the other at risk for the X-linked form of adrenoleucodystrophy (ALD). Cells from early subcultures of chorionic cells from both cases gave normal values for VLCFA ratios. The results for the fetus at risk for the β-oxidation defect were interpreted to indicate that the fetus was not affected; however, at birth, the infant was clinically and biochemically affected. In the case of the fetus at risk for X-linked ALD, although VLCFAs were normal in subculture 1, the levels of these fatty acids increased dramatically in subculture 3, suggesting an abnormal fetus. Termination of the pregnancy and subsequent biochemical and morphological follow-up confirmed that the fetus was indeed affected by ALD.     

Prenatal detection of trisomy 21 in uncultured amniocytes by fluorescence in situ hybridization: A prospective study

A prospective study was undertaken to evaluate the use of fluorescence in situ hybridization (FISH) for the detection of trisomy 21 in interphase nuclei of uncultured amniotic fluid cells. Five hundred cases were analysed in situ and classified as normal or abnormal; the results were subsequently checked against the cytogenetic findings. Four hundred and ninety-three were correctly identified as normal with an 86·6 per cent average frequency of scored nuclei exhibiting two signals; six cases were correctly identified as trisomic for chromosome 21 with 81·7 per cent of scored nuclei exhibiting three signals; and one abnormal case involving an unbalanced chromosome 21·21 translocation was falsely scored as normal due to poor hybridization/detection efficiency. The method has been substantially improved and simplified so that it is suitable for the rapid detection of trisomy 21. As aneuploidy detection in interphase does not identify structural chromosome aberrations, it is not a substitute for fetal chromosome analysis.     

MSAFP levels and oesophageal atresia

This study was undertaken to evaluate the relationship between maternal serum alpha-fetoprotein (MSAFP) levels and oesophageal atresia (OA). OA occurred in 16 fetuses of mothers who had an MSAFP test in the study interval. The multiple of the median (MOM) value for MSAFP averaged 1·54 ± 0·65 (range 0·5–2·9 MOM), which was significantly higher than the value seen in controls. The median MOM was 1·35. Using a cut-off of 2·5 MOM, the sensitivity of MSAFP for detecting OA was 19 per cent. Although OA should be considered in the differential diagnosis of an elevated MSAFP level, MSAFP cannot be considered an appropriate screening test for OA given the low sensitivity.