Prenatally detected double trisomy: Klinefelter and Down syndrome

Double trisomies are a rare occurrence. We report the first case of a Down and Klinefelter's syndrome (48,XXY,+21) in a fetus that was prenatally diagnosed during the 15th week of pregnancy. Even though the nasal bone was present, and the color-Doppler study of the ductus venosus and the nuchal thickness were normal, the maternal serum test results indicated an increased risk of Down syndrome and consequentially a genetic amniocentesis was performed. A 48,XXY,+21 karyotype was observed and the patient decided to terminate the pregnancy. In this case, we did not find the typical ultrasound (US) signs that would have led us to the chromosomopathy; furthermore, we emphasize the advantages of using biochemical screening which, in our case, were crucial in arriving at the correct diagnosis. Copyright © 2006 John Wiley & Sons, Ltd.     

Sustainable development and the water–energy–food nexus: A perspective on livelihoods

The water–energy–food nexus is being promoted as a conceptual tool for achieving sustainable development. Frameworks for implementing nexus thinking, however, have failed to explicitly or adequately incorporate sustainable livelihoods perspectives. This is counterintuitive given that livelihoods are key to achieving sustainable development. In this paper we present a critical review of nexus approaches and identify potential linkages with sustainable livelihoods theory and practice, to deepen our understanding of the interrelated dynamics between human populations and the natural environment. Building upon this review, we explore the concept of ‘environmental livelihood security’ – which encompasses a balance between natural resource supply and human demand on the environment to promote sustainability – and develop an integrated nexus-livelihoods framework for examining the environmental livelihood security of a system. The outcome is an integrated framework with the capacity to measure and monitor environmental livelihood security of whole systems by accounting for the water, energy and food requisites for livelihoods at multiple spatial scales and institutional levels. We anticipate this holistic approach will not only provide a significant contribution to achieving national and regional sustainable development targets, but will also be effective for promoting equity amongst individuals and communities in local and global development agendas.     

Gasoline-derived methyl tert-butyl ether as a potential obesogen linked to metabolic syndrome

<正>The power and efficiency of gasoline engines is often improved through the use of fuel with high octane ratings.The octane rating of fuel could be further increased with oxygenate additives such as alcohols and ethers, with methyl tert-butyl ether (MTBE) being one of the most common gasoline additives. The Agency for Toxic Substances and Disease     

Prenatal exclusion of Leigh syndrome due to T8993C mutation in the mitochondrial DNA

Leigh syndrome (LS) is a mitochondrial encephalopathy that is caused by a mutation either in the mitochondrial DNA (mtDNA) or in the nuclear encoded genes of the mitochondrial proteins. Prenatal diagnosis of defects in the mtDNA is usually problematic because of mtDNA heteroplasmy and tissue specificity. However, the mutations T8993 G/C in the ATP synthase subunit 6 gene of the mtDNA show a more even tissue distribution and do not appear to change significantly over time. There are only few reports of prenatal diagnosis of the T8993G mutation in Leigh disease. Here we describe the first prenatal genetic testing of T8993C in a fetus of a mother whose previous child had died of Leigh syndrome due to the T8993C mutation. Mutant load in the chorionic villus sample (CVS) as well as in amniocytes was undetectable, thus predicting a very high likelihood of an unaffected outcome, indicative of a healthy baby. The diagnosis was confirmed after birth. Gathering data on the prenatal diagnosis of mtDNA mutations is of great importance so that prenatal diagnosis of both T8993G and T8993C mutations can be offered routinely. Copyright © 2002 John Wiley & Sons, Ltd.