Association of generalized dystrophic epidermolysis bullosa with positive acetylcholinesterase and markedly elevated maternal serum and amniotic fluid alpha-fetoprotein

A case of fatal generalized dystrophic epidermolysis bullosa is described in a prematurely born female whose mother had strikingly elevated mid-trimester serum and amniotic fluid alpha-fetoprotein concentrations, a positive amniotic fluid acetylcholinesterase band, and negative serial ultrasound studies. This case lends further support to an association between autosomal recessive generalized dystrophic epidermolysis bullosa and increased levels of alpha-fetoprotein, positive amniotic fluid acetylcholines'terase, and normal ultrasound findings.     

Modeling a Carbon Capture,Transport, and Storage Infrastructure for Europe

In this paper, we develop a model to analyze the economics of carbon capture, transport, and storage (CCTS) in the wake of expected rising CO₂ prices. We present a scalable mixed integer, multiperiod, welfare-optimizing network model for Europe, called CCTS-Mod. The model incorporates endogenous decisions on carbon capture, pipeline and storage investments, as well as capture, flow and injection quantities based on given costs, CO₂ prices, storage capacities, and point source emissions. Given full information about future costs of CCTS-technology, and CO₂ prices, the model determines a cost minimizing strategy on whether to purchase CO₂ certificates, or to abate the CO₂ through investments into a CCTS-chain on a site by site basis. We apply the model to analyze different scenarios for the deployment of CCTS in Europe, e.g., under high and low CO₂ prices, respectively. We find that beyond CO₂ prices of €50 per t, CCTS can contribute to the decarbonization of Europe’s industry sectors, as long as one assumes sufficient storage capacities (onshore and/or offshore). We find that CCTS is only viable for the power sector if the CO₂ certificate price exceeds €75 per t.     

False-positive diagnosis of trisomy 21 using fluorescence in situ hybridisation (FISH) on uncultured amniotic fluid cells

An amniocentesis was performed on a 22-week pregnancy following the detection of foetal abnormalities on ultrasound. A rapid aneuploid screen using fluorescence in situ hybridisation on uncultured amniotic fluid cells revealed 3 signals for chromosome 21, consistent with trisomy 21. In situ metaphase cultures revealed a 46,XY normal male karyotype. These discordant results may be explained by a sub-standard batch of the commercially available probe or alternatively, a very specific variation within the sample interacting with the probe. Alternative strategies are proposed in order to safeguard against inappropriate clinical action as a consequence of discordant results. Copyright © 2003 John Wiley & Sons, Ltd.     

Prenatal diagnosis of partial tetrasomy 14: a case study

Prenatal specimens were received from a fetus with abnormalities noted on ultrasound. A supernumerary marker chromosome (SMC) was detected: 47,XY,+mar. Fluorescence in situ hybridisation (FISH) further classified this to be partial tetrasomy for chromosome 14. We compare this finding with other cases of SMC (14) and further classify phenotype with karyotype. Copyright © 2002 John Wiley & Sons, Ltd.     

Prenatal diagnosis of pyruvate carboxylase deficiency

Prenatal diagnosis of pyruvate carboxylase (PC) deficiency was performed in a family at risk for the acute neonatal form of this disease which manifests secondary citrullinemia. The diagnosis of an affected child was confirmed by enzyme assay and ³H-biotin labelling of proteins in cultured fetal skin fibroblasts. Sufficient amniocytes were cultured in 3–4 weeks for enzyme analysis in two centres. Citrulline concentration in amniotic fluid (AF) was normal in the affected fetus.