Normal development in two six-year-old boys born after prenatal diagnosis of trisomy 20 mosaicism

Prenatal diagnosis of trisomy 20 mosaicism was made in two pregnancies by chromosome analysis of cultured amniotic fluid cells. In both cases, the pregnancy continued to term and a healthy male infant was delivered. Regular assessments up to the age of 6-5 years revealed normal physical and intellectual development in both children.     

Exclusion of citrullinaemia in the first trimester of pregnancy by direct assay of argininosuccinate synthetase in chorionic villi

Citrullinaemia was presumed to be excluded in a fetus at risk by the direct assay of argininosuccinate synthetase in chorionic villi. The diagnosis was confirmed after amniocentesis by normal argininosuccinate synthetase activity in the cultured amniotic fluid cells and by a normal citrulline concentration in the amniotic fluid. The prediction of a normal fetus was confirmed at term by the birth of a non-citrullinaemic boy.     

Forestry Mitigation Options for Mexico: Finding Synergies between National Sustainable Development Priorities and Global Concerns

We examine carbon (C) reference and mitigation scenarios for the Mexicanforest sector between the year 2000 and 2030. Estimates are presentedseparately for the period 2008–2012.Future C emissions and capture are estimated using a simulation modelthat: a) allocates the country land use/land cover classes among differentfuture uses and categories using demand-based scenarios for forestryproducts; b) estimates the total C densities associated to each land usecategory, and c) determines the net carbon implications of the process ofland use/cover change according to the different scenarios.The options analyzed include both afforestation/reforestation, such ascommercial, bionenergy and restoration plantations, and agroforestrysystems, and forest conservation, through the sustainable management ofnative forests and forest protection.The total mitigation potential, estimated as the difference between the totallong-term carbon stock in the reference and the mitigation scenario reaches300 × 10⁶ Mg C in the year 2012 and increases to 1,382 × 10⁶ Mg C in 2030. The average net sequestration in the 30 year period is 46 × 10⁶ Mg C yr^-1, or 12.5 × 10⁶ Mg C yr^-1 within the period 2008 to 2012. The costs of selected mitigation options range from 0.7–3.5 Mg C^-1 to 35 Mg C^-1. Some options are cost effective.     

Amniotic fluid alpha-fetoprotein levels and prenatal diagnosis of autosomal trisomies

Pregnancies with fetal trisomy 21 have been associated with low amniotic fluid alpha-fetoprotein levels (AFAFP). This observation led to the suggestion that low AFAFP levels be used as a criterion for completion of a chromosomal analysis in patients who are not otherwise at increased risk for a fetal chromosome abnormality and in whom karyotyping might not have been completed for economic reasons. In order to assess the usefulness of such criteria, we reviewed the AFAFP levels of 90 cases of fetal trisomy 21, 23 cases of trisomy 18, and 10 cases of trisomy 13. These were compared with 2400 control samples with normal chromosome constitution. AFAFP levels were generally lower in pregnancies with trisomy 21, showing a median value of 0·72 MoM. However, 40 per cent of the trisomy 21 samples had AFAFP values greater than 0·8 MoM and 20 per cent were over 1·0 MoM. These data imply that over 50 per cent of Down syndrome cases might have been missed using a cut-off level of 0·70 MoM for completion of chromosome analysis. Using a higher cut-off level will leave only a small percentage of samples unkaryotyped. The distribution of AFP levels in trisomy 13 and 18 is no different from controls; we therefore believe that fetal karyotyping should be completed in every amniotic fluid sample obtained.     

Manganese-oxidizing fungi and bacteria

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