Fetal cardiac anomalies and genetic syndromes

Cardiac anomalies may occur in isolation or can be part of a genetic syndrome. In this article, we describe some of the genetic syndromes commonly associated with cardiac anomalies where there are other sonographic features that may aid accurate prenatal diagnosis. Copyright © 2004 John Wiley & Sons, Ltd.     

Structural chromosomal mosaicism and prenatal diagnosis

True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed. Copyright © 2004 John Wiley & Sons, Ltd.     

Prenatal diagnosis of GM2-gangliosidosis B1 variant

Prenatal diagnosis in a pregnancy at risk for a juvenile B1 variant of GM₂-gangliosidosis was carried out. The biochemical study of the cultured amniocytes and the affected fetal brain is reported. The results obtained show that the sulphated artificial substrate can be used in the diagnosis of B1 variant, but not the neutral one. The accumulation of GM₂-ganglioside in the fetal brain of the B1 juvenile form and an infantile form of GM₂-gangliosidosis (0 variant) was compared.     

Optimisation of a PMAxx™-RT-qPCR Assay and the Preceding Extraction Method to Selectively Detect Infectious Murine Norovirus Particles in Mussels

Human noroviruses are a major cause for gastroenteritis outbreaks. Filter-feeding bivalve molluscs, which accumulate noroviruses in their digestive tissues, are a typical vector for human infection. RT-qPCR, the established method for human norovirus detection in food, does not allow discrimination between infectious and non-infectious viruses and can overestimate potentially infectious viral loads. To develop a more accurate method of infectious norovirus load estimation, we combined intercalating agent propidium monoazide (PMAxx™)-pre-treatment with RT-qPCR assay using in vitro-cultivable murine norovirus. Three primer sets targeting different genome regions and diverse amplicon sizes were used to compare one-step amplification of a short genome fragment to three two-step long-range RT-qPCRs (7 kbp, 3.6 kbp and 2.3 kbp amplicons). Following initial assays performed on untreated infectious, heat-, or ultraviolet-inactivated murine noroviruses in PBS suspension, PMAxx™ RT-qPCRs were implemented to detect murine noroviruses subsequent to their extraction from mussel digestive tissues; virus extraction via anionic polymer-coated magnetic beads was compared with the proteinase K-dependent ISO norm. The long-range RT-qPCR process detecting fragments of more than 2.3 kbp allowed accurate estimation of the infectivity of UV-damaged murine noroviruses. While proteinase K extraction limited later estimation of PMAxx™ pre-treatment effects and was found to be unsuited to the assay, magnetic bead-captured murine noroviruses retained their infectivity. Genome copies of heat-inactivated murine noroviruses differed by 2.3 log₁₀ between RT-qPCR and PMAxx™-RT-qPCR analysis in bivalve molluscs, the PMAxx™ pre-treatment allowing a closer approximation of infectious titres. The combination of bead-based virus extraction and PMAxx™ RT-qPCR thus provides a more accurate model for the estimation of noroviral bivalve mollusc contamination than the conjunction of proteinase K extraction and RT-qPCR and has the potential (once validated utilising infectious human norovirus) to provide an added measure of security to food safety authorities in the hazard assessment of potential bivalve mollusc contamination.

     

Application of CGP-cross route process for microstructure refinement and mechanical properties improvement in steel sheets

A modified method of severe plastic deformation (SPD) entitled constrained groove pressing-cross route (CGP-CR) was introduced for imposing a high magnitude of equivalent strain of about 2.32 per pass on the sheet form samples. The major benefit of this improved route compared to previous common route was the more homogeneity of strain in the rolling (RD) and transverse (TD) directions of sheets. In this study, low carbon steel samples were used for examination of evolutions in microstructure and mechanical properties during SPD via CGP-CR process. Mechanical properties improvement were measured by tensile and macro hardness tests. The results indicate that CGP-CR process can effectively improve tensile strength; and also, yield stress and hardness of as-received low carbon steel samples were improved up to about 100% after two deformation passes. Also, high magnitude of inhomogeneity can be observed in hardness distribution through first pass of the process which diminishes in the subsequent passes. Microstructural evolutions during process were monitored by optical microscopy observations and X-ray diffraction analysis. The results demonstrate that initial ferritic microstructure with grain size of about 30 μm was refined to a 225 nm cell structure after two passes of CGP-CR process.     

Life cycle assessment of lithium-ion batteries for plug-in hybrid electric vehicles – Critical issues

The main aim of the study was to explore how LCA can be used to optimize the design of lithium-ion batteries for plug-in hybrid electric vehicles. Two lithium-ion batteries, both based on lithium iron phosphate, but using different solvents during cell manufacturing, were studied by means of life cycle assessment, LCA. The general conclusions are limited to results showing robustness against variation in critical data. The study showed that it is environmentally preferable to use water as a solvent instead of N-methyl-2-pyrrolidone, NMP, in the slurry for casting the cathode and anode of lithium-ion batteries. Recent years’ improvements in battery technology, especially related to cycle life, have decreased production phase environmental impacts almost to the level of use phase impacts. In the use phase, environmental impacts related to internal battery efficiency are two to six times larger than the impact from losses due to battery weight in plug-in hybrid electric vehicles, assuming 90% internal battery efficiency. Thus, internal battery efficiency is a very important parameter; at least as important as battery weight. Areas, in which data is missing or inadequate and the environmental impact is or may be significant, include: production of binders, production of lithium salts, cell manufacturing and assembly, the relationship between weight of vehicle and vehicle energy consumption, information about internal battery efficiency and recycling of lithium-ion batteries based on lithium iron phosphate.     

A juvenile lizard specimen with well-preserved skin impressions from the Upper Jurassic/Lower Cretaceous of Daohugou, Inner Mongolia, China

Lizards are now relatively well known from the Yixian Formation of northeastern China. In this study, we describe a juvenile lizard from a fossil horizon at Daohugou, Inner Mongolia. These beds predate the Yixian Formation, and are probably Late Jurassic or earliest Cretaceous in age. The new specimen thus documents the first lizard material from the Daohugou locality and is the earliest lizard skeleton from China. Comparisons with developmental stages of modern lizards suggest the Daohugou lizard is a hatchling. Although tiny, the specimen is notable in preserving exquisite skin impressions showing the variation in scalation across the body, the shape and position of the cloacal outlet, and details of the manus and pes. These are the earliest recorded lepidosaurian skin traces. In its general proportions and the possession of paired frontals, the small Daohugou lizard resembles both the Yixian taxon Yabeinosaurus tenuis and the questionable Jeholacerta formosa, but it differs from the latter in scalation and, based on other characters, may be distinct from both.