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.     

Mosaicism for trisomy 12: Four cases with varying outcomes

Trisomy 12 observed in chorionic villus sampling (CVS) may reflect generalized mosaicism or indicate mosaicism confined to only the placenta. In this report, four cases of trisomy 12 observed in CVS or cultured placental biopsies with varying outcomes are presented. Seven dinucleotide repeat polymorphisms for chromosome 12 were used to determine the chromosome 12 origins in the fetus or child and to delineate the mechanism(s) that gave rise to the trisomy. In two cases (cases A and C), the mosaicism was confined to the placenta, resulting in normal liveborns. Although, in one case, the molecular results suggested an apparent duplication of one paternal chromosome 12 in the placenta, normal biparental inheritance was found in the diploid fetal cell line in both cases. In two other cases (cases B and D), trisomy 12 was observed in both extraembryonic and fetal tissues. In one of these pregnancies, a child was born by Caesarean section at 37 weeks because of intrauterine growth retardation and oligohydramnios, and resulted in neonatal death. Molecular markers and fluorescence in situ hybridization (FISH) revealed low-level trisomy 12 mosaicism in the spleen. In the fourth case, fetal abnormalities were detected on ultrasound and low-level trisomy 12 mosaicism was observed in amniotic fluid cells using conventional cytogenetics and FISH. Molecular markers revealed a maternal meiosis I non-disjunction of chromosome 12 in DNA from a cultured placental biopsy. Although predicting the outcomes of pregnancies involving confined placental mosaicism remains difficult, molecular techniques are valuable tools for distinguishing uniparental from biparental disomy and mechanisms of mosaicism.     

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.     

Renatal diagnosis of mosaic tetrasomy 12p/trisomy 12p by fluorescent in situ hybridization in amniotic fluid cells: A case report of pallister–killian syndrome

A prenatally detected case of a rare mosaic tetrasomy 12p/trisomy 12p is reported, presenting as the well-known accessory isochromosome 12p and a supernumerary single 12p marker in 17/24 and 6/24 clones of cultured amniotic fluid cells, respectively. The chromosomal nature of both marker chromosomes was investigated in cultured amniotic fluid cells by fluorescent in situ hybridization with various probes: the 12-centromeric probes pa12H8 and D12Z3, a whole chromosome 12 paint, and the chromosome 12p-specific paint M28. DNA analysis revealed a maternal origin of the extra 12p material. After counselling, the parents requested termination of pregnancy. Inspection and autopsy of the fetus revealed many of the dysmorphisms and internal structural abnormalities of the Pallister–Killian syndrome.     

Miscanthus for Renewable Energy Generation: European Union Experience and Projections for Illinois

Mitigation and Adaptation Strategies for Global Change -     

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.