Prenatal diagnosis of a partial 8p

The index patient is a female fetus in which prenatal diagnosis of 8p trisomy was established after amniocentesis at 16 weeks of gestation. This fetus was the unbalanced product of a maternal translocation of 5q/8p (karyotype: 46,XX,t(5;8)(q35;pl 1). Internal malformations include an anomalous lobature of the right lung, a little and high atrio-ventricular communication, and an anomaly in the number and shape of the aortic semilunar valves. The possible relationship between the phenotype and the chromosomal abnormality is briefly discussed.     

Prenatal diagnosis of a rare heteropagus

The prenatal diagnosis by ultrasound of an unusual case of supernumerary head is reported. The problems of differential diagnosis, the pathological findings after voluntary interruption of the pregnancy, and the problems of obstetric management are presented.     

Geophysical and hydrological data assimilation to monitor water content dynamics in the rocky unsaturated zone

In recent years, geophysics is increasingly used to study the flow and transport processes in the vadose zone. Particularly, when the vadose zone is made up of rocks, it is difficult to install sensors in the subsurface to measure hydrological state variables directly. In these cases, the electrical resistivity tomography (ERT) represents a useful tool to monitor the hydrodynamics of the infiltration and to estimate hydraulic parameters and state variables, such as hydraulic conductivity and water content. We propose an integrated approach aimed at predicting water content dynamics in calcarenite, a sedimentary carbonatic porous rock. The uncoupled hydrogeophysical approach proposed consists in 4D ERT monitoring conducted during an infiltrometer test under falling head conditions. Capacitance probes were installed to measure water content at different depths to validate the estimations derived from ERT. A numerical procedure, based on a data assimilation technique, was accomplished by combining the model (i.e., Richards’ equation) with the observations in order to provide reliable water content estimations. We have used a new data assimilation method that is easy to implement, based on the ensemble Kalman filter coupled with Brownian bridges. This approach is particularly suitable for strongly non-linear models, such as Richards’ equation, in order to take into account both the model uncertainty and the observation errors. The proposed data assimilation approach was tested for the first time on field data. A reasonable agreement was found between observations and predictions confirming the ability of the integrated approach to predict water content dynamics in the rocky subsoil.     

Biofilm formation and microbial activity in a biofilter system in the presence of MTBE, ETBE and TAME

Emerging water contaminants derived from unleaded gasoline such as methyl tert-butyl ether (MTBE), ethyl tert-butyl ether (ETBE) and tert-amyl methyl ether (TAME), are in need of effective bioremediation technologies for restoring water resources. In order to design the conditions of a future groundwater bioremediating biofilter, this work assesses the potential use of Acinetobacter calcoaceticus M10, Rhodococcus ruber E10 and Gordonia amicalis T3 for the removal of MTBE, ETBE and TAME in consortia or as individual strains. Biofilm formation on an inert polyethylene support material was assessed with scanning electron microscopy, and consortia were also analysed with fluorescent in situ hybridisation to examine the relation between the strains. A. calcoaceticus M10 was the best coloniser, followed by G. amicalis T3, however, biofilm formation of pair consortia favoured consortium M10-E10 both in formation and activity. However, degradation batch studies determined that neither consortium exhibited higher degradation than individual strain degradation. The physiological state of the three strains was also determined through flow cytometry using propidium iodide and 3′-dihexylocarbocyanine iodide thus gathering information on their viability and activity with the three oxygenates since previous microbial counts revealed slow growth. Strain E10 was observed to have the highest physiological activity in the presence of MTBE, and strain M10 activity with TAME was only maintained for 24 h, thus we believe that biotransformation of MTBE occurs within the active periods established by the cytometry analyses. Viable cell counts and oxygenate removal were determined in the presence of the metabolites tert-butyl alcohol (TBA) and tert-amyl alcohol (TAA), resulting in TBA biotransformation by M10 and E10, and TAA by M10. Our results show that A. calcoaceticus M10 and the consortium M10-E10 could be adequate inocula in MTBE and TAME bioremediating technologies.     

In utero ultrasonographic features of campomelic dysplasia

A prenatal diagnosis of campomelic dysplasia in a primigravida is described. First level fetal ultrasonography demonstrated bowing and shortening of lower limbs. Second level examination allowed the correct diagnosis by demonstrating several skeletal anomalies pathognomonic of campomelic dysplasia.     

First trimester prenatal diagnosis of Sanfilippo disease (MPSIII) type B

Two pregnancies of a family at risk for Sanfilippo disease type B were monitored in the first trimester. In one case an affected fetus was diagnosed on chorionic villi by the assay of N-acetyl-a-D -glucosaminidase and confirmed on cultured fibroblasts from the aborted fetus. Pathological findings are also reported and compared with changes observed later in life. The disease was excluded in the second pregnancy.     

A formulation to optimize the risk reduction process based on LOPA

This paper presents a mixed integer nonlinear programming (MINLP) model to improve the computational use of the layer of protection analysis (LOPA). For a given set of independent protection layers to be implemented in a process, the proposed optimization model is solved to: a) Include costs associated with the different prevention, protection and mitigation devices, and b) Satisfy the risk level typically specified in the LOPA analysis through the occurrence probability. The underline purpose focuses on improving the analysis process and decision making to obtain the optimal solution in the safeguards selection that satisfies the requirements to be considered as IPL’s. The optimization is based on economic and risk tolerance criteria. As a first stage of this proposal, the safety instrumented system (SIS) design is optimized so that the selection of SIS components minimizes the risk and satisfies the safety integrity level (SIL) requirements. A case study is presented to validate the whole proposed approach.     

Bioremediation of cutting fluids contaminated soil by Pleurotus tuber-regium Singer

This study investigated the effect of inoculation of Pleurotus tuber-regium, a Nigerian white rot fungus, period of incubation, different levels of contamination on cutting fluids degradation in contaminated soil over 30, 60, and 90 days. Control for different levels of cutting fluids was also used to compare rates of bioremediation of the contaminant in the soil. At the end of each incubation period, the mycelia-ramified substrate was separated from the soil layer and dried. The soil samples were analyzed for physico-chemical parameters; total petroleum hydrocarbon, lignin content by determining the acid detergent fraction (ADF), heavy metals content of the soil using flame atomic absorption spectrophotometer, and changes in the polyphenol oxidase and peroxidase activities were also determined after 1, 2, and 3 months. P. tuber-regium improved the nutrient status of the soil and increased enzyme activity was recorded. A reduction in the pH and heavy metal contents of the soil at all levels of cutting fluids concentrations was detected. The lignin in the rice straw decreased from 34.50% in the control to 8.06% at 30% cutting fluids concentration after 3 months of incubation. The highest TPH loss of 30.84% was recorded at 20% cutting fluids contamination after 3 months compared to 13.75% at the onset of the experiment. The improvement of the nutrient contents of the soil, bioaccumulation of heavy metals, degradation of TPH, lignin, and increased activity of polyphenol oxidase and peroxidase was due to biodegradation of the cutting fluids.     

Influence of linear alkylbenzene sulfonate (LAS) on the structure of Alphaproteobacteria,Actinobacteria, and Acidobacteria communities in a soil microcosm

Background, aim, and scope  

Linear alkylbenzene sulfonate (LAS) is the most used anionic surfactant in a worldwide scale and is considered a high-priority pollutant. LAS is regarded as a readily biodegradable product under aerobic conditions in aqueous media and is mostly removed in wastewater treatment plants, but an important fraction (20–25%) is immobilized in sewage sludge and persists under anoxic conditions. Due to the application of the sludge as a fertilizer, LAS reaches agricultural soil, and therefore, microbial toxicity tests have been widely used to evaluate the influence of LAS on soil microbial ecology. However, molecular-based community-level analyses have been seldom applied in studies regarding the effects of LAS on natural or engineered systems, and, to our knowledge, there are no reports of their use for such appraisals in agricultural soil. In this study, a microcosm system is used to evaluate the effects of a commercial mixture of LAS on the community structure of Alphaproteobacteria, Actinobacteria, and Acidobacteria in an agricultural soil.