Prenatal diagnosis in two cases of de novo complex balanced chromosomal rearrangements. Three-year follow-up in one case

We report two cases of apparently balanced complex de novo chromosomal rearrangements (BCCR) detected prenatally at 17 weeks and 10 weeks of gestation, respectively. Chromosomes were studied using GTG-banding and fluorescent in situ hybridization (FISH). In one case four chromosomes and in the other case three chromosomes were involved in the rearrangements. One of the pregnancies was terminated and no external or internal abnormalities were detected at autopsy. The other pregnancy continued to term. Level III ultrasound examination showed no abnormalities. The child is now 3 years old and has neither congenital anomalies nor evidence of delayed psychomotor development.     

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.     

Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis

Herlitz junctional epidermolysis bullosa (HJEB) is a severe blistering disorder which usually results in death during infancy. We have previously shown that the anchoring filament protein laminin-5 (kalinin/nicein), which mediates keratinocyte attachment and dermal–epidermal cohesion, is abnormally expressed in individuals with HJEB. Laminin-5 was detected by Western blot analysis in amniotic fluid from 44 consecutive normal secondtrimester control pregnancies, but was undetectable in second-trimester amniotic fluid from four pregnancies with fetuses affected by HJEB. In one case of severe non-Herlitz JEB, laminin-5 was detected in both amniotic fluid and skin. In human amniotic fluid, the laminin-5 a3 subunit was processed to a major 165 kD species and a minor 145 kD species and the β2 subunit was partially processed to 105 kD. Although laminin-5 was covalently associated with laminin-6 (K-laminin) in amniotic membrane, no covalent interaction was detected in amniotic fluid. Laminin-5 from amniotic fluid strongly supported keratinocyte attachment. These results suggest that Western blot analysis of second-trimester amniotic fluid is useful in determining the prenatal diagnosis of HJEB and that laminin-5 may serve a physiologically important function in amniotic fluid.     

Prevalence and clinical significance of anticardiolipin antibodies in pregnancies complicated by parvovirus B19 infection

Anticardiolipin antibodies were measured in 60 pregnant women with acute parvovirus B19 infection. Test results for eight (13.3 per cent) women were positive for anticardiolipin antibody. Six of these eight women became negative later, yielding a prevalence of anticardiolipin antibodies of 3.3 per cent (2/60) 6 months after acute parvovirus B19 infection. Anticardiolipin antibody positivity was not associated with an increased risk of abortion, fetal death, or maternal complications. This study suggests that there is an elevated frequency of anticardiolipin antibodies in pregnant women with acute parvovirus B19, probably representing an epiphenomenon. However, this is not associated with an adverse maternal or perinatal outcome.     

Detection of low-grade mosaicism in fetal cells isolated from maternal blood

Recovering and analysing fetal erythrocytes from maternal blood is being pursued for non-invasive prenatal genetic diagnosis. We report the observation of 46, XY/47, XXY mosaicism in fetal cells from a woman whose first-trimester chorionic villus sampling (CVS) initially showed only 46, XY. Only after exhaustive (500 cells) analysis were four XXY cells found in cultured villi.     

Using chemical process simulation to design industrial ecosystems

Chemical process simulation (CPS) software has been widely used by chemical (process) engineers to design, test, optimise, and integrate process plants. It is expected that industrial ecologists to bring these same problem-solving benefits to the design and operation of industrial ecosystems can use CPS. This paper provides industrial ecology researchers and practitioners with an introduction to CPS and an overview of chemical engineering design principles. The paper highlights recent research showing that CPS can be used to model industrial ecosystems, and discusses the benefits of using CPS to address some of the technical challenges facing companies participating in an industrial ecosystem. CPS can be used to (i) quantitatively evaluate and compare the potential environmental and financial benefits of material and energy linkages; (ii) solve general design, retrofit, or operational problems; (iii) help to identify complex and often counter-intuitive solutions; and (iv) evaluate what-if scenarios. CPS should be a useful addition to the industrial ecology toolbox.     

Genetic variation in natural honeybee populations,<Emphasis Type="Italic"> Apis mellifera capensis</Emphasis>

Genetic variation in honeybee, Apis mellifera, populations can be considerably influenced by breeding and commercial introductions, especially in areas with abundant beekeeping. However, in southern Africa apiculture is based on the capture of wild swarms, and queen rearing is virtually absent. Moreover, the introduction of European subspecies constantly failed in the Cape region. We therefore hypothesize a low human impact on genetic variation in populations of Cape honeybees, Apis mellifera capensis. A novel solution to studying genetic variation in honeybee populations based on thelytokous worker reproduction is applied to test this hypothesis. Environmental effects on metrical morphological characters of the phenotype are separated to obtain a genetic residual component. The genetic residuals are then re-calculated as coefficients of genetic variation. Characters measured included hair length on the abdomen, width and length of wax plate, and three wing angles. The data show for the first time that genetic variation in Cape honeybee populations is independent of beekeeping density and probably reflects naturally occurring processes such as gene flow due to topographic and climatic variation on a microscale.     

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.