Case report: birth after preimplantation genetic diagnosis of a subtle mutation in SMN1 gene

Spinal muscular atrophy (SMA) preimplantation genetic diagnosis (PGD) has been available since 1998. Protocols are based on the detection of the homozygous deletion of exon 7, which are present in 90–98% of SMA patients. A couple where the woman was a heterozygous carrier of the usual SMN1 Del7 mutation and the man was a heterozygous carrier of pMet263Arg substitution in exon 6 of SMN1 gene was referred for PGD. The usual PGD test being unsuitable for this couple, we developed a novel duplex polymerase chain reaction (PCR)-based PGD test for the detection of the mutation pMet263Arg by allele specific amplification, combined with the amplification of D5S641 extragenic polymorphic marker. PCR conditions were established using single control lymphoblasts and lymphocytes from the pMet263Arg substitution carrier. Amplification was obtained in 100% of the 86 single cells tested, amplification refractory mutation system (ARMS) PCR was specific in 100% of single cells tested and a complete genotype (mutation plus D5S641) was achieved in 88% of them. A PGD cycle was performed successfully and a pregnancy was obtained. An unaffected girl was born and postnatal diagnosis confirmed PGD results. This is the first PGD described for SMA because of another mutation than the major homozygous exon 7 deletion of SMN1. In the future, a similar strategy could be adopted for other subtle mutations of this gene. Copyright © 2006 John Wiley & Sons, Ltd.     

Selective metal removal from chromium-containing synthetic effluents using Shewanella xiamenensis biofilm supported on zeolite

Environmental Science and Pollution Research - A scheme of selective removal of metal ions from chromium-containing synthetic solutions with the following chemical composition, Cr (VI)-Fe (III), Cr...     

Emissions Scenarios Database and Review of Scenarios

This paper reviews and analyzes more than 400 scenarios of global and regional greenhouse gas emissions and their main driving forces - population, economy, energy intensity, and carbon intensity - drawn from an extensive literature survey and summarized in a database. This new and growing database is available online, which makes summary statistics on these scenarios widely available. The scenarios in the database were collected from almost 200 different literature sources and other scenario evaluation activities. The ultimate objective of the database is to include all relevant global and regional emissions scenarios. This paper shows how the database can be utilized for the analysis of greenhouse gas emissions ranges across the scenarios in the literature and for the analysis of their main driving forces. The scenarios in the database display a large range of future greenhouse gas emissions. Part of the range can be attributed to the different methods and models used to formulate the scenarios, which include simple spreadsheet models, macroeconomic models and systems-engineering models. However, most of the range is due to differences in the input assumptions for the scenarios, in particular of the main scenario driving forces. Special emphasis is given to an analysis of medians and ranges of scenario distributions and the distributions of the main scenario driving forces in the database. The analysis shows that the range for projected population increase in the world, across the scenarios in the database, is the smallest of all main driving forces (about a factor of 3 in 2100). The range of economic growth, measured by the gross world product, and the range of primary energy consumption vary by a factor of 10 in 2100. Carbon intensity of energy, an indicator of the degree of technological change, varies by nearly two orders of magnitude in the year 2100. In addition, this paper presents the first attempt to analyze the relationships among the main scenario driving forces. Subsequent papers in this special issue give further analyses of the relationships among the main scenario driving forces and their other relevant characteristics.