Pilot study for the neonatal screening of fragile X syndrome

An Erratum has been published for this article in Prenatal Diagnosis 23 (9), 2003, 771. Fragile X syndrome (SFX) is the commonest form of inherited mental retardation. Due to the highly variable phenotype clinical diagnosis is complicated. In nearly all cases, the disorder is caused by expansion of a CGG-repeat in the 5′-untranslated region of the FMR1 (fragile X mental retardation-1) gene. We have evaluated the feasibility, efficiency and costs of two methodologies in order to develop a simple test to screen large populations: PCR and fragile X mental retardation-1 protein (FMRP) immunodetection. We studied 100 newborn males using PCR and immunodetection (26.91 Euro). All but one amplified the CGG repeat of the FMR1 gene within the normal size range. The sample that failed to amplify showed only 28% of FMRP expression by immunodetection study; both results indicated an affected male. A further 100 males were studied only by polymerase chain reaction (PCR) (7.8 Euro); all of them amplified within the normal size range. Both methodologies, PCR and immunodetection, are feasible for screening large populations, PCR being the most suitable, economical and less time-consuming. However, it is advisable to keep slides for immunodetection when PCR fails or the external control shows no amplification. Early detection of SFX-affected individuals would represent a great benefit for their maximum social integration, due to appropriate treatment and early stimulation and would permit a cascade screening in their pedigree. Copyright © 2002 John Wiley & Sons, Ltd.     

Trisomy 2 due to a 3:1 segregation in an abortion studied by QF-PCR and CGH

Balanced reciprocal translocation is one of the known causes of recurrent spontaneous abortions. Cytogenetic studies of unbalanced miscarriages are difficult due to the growth failure of early loss and usually macerated abortions. We present a molecular study of an abortion in which the father carries a balanced reciprocal translocation t(2;17)(q32.1;q24.3) using QF-PCR and CGH techniques. DNA analysis showed the presence of a trisomy 2 due to a 3:1 interchange segregation. Recombinant events could also be investigated by comparing DNA samples from the family. We propose QF-PCR in addition to CGH as an efficient diagnostic method to improve our knowledge of unbalanced offspring in balanced translocation carriers. Copyright © 2005 John Wiley & Sons, Ltd.     

Neanderthal medics? Evidence for food, cooking, and medicinal plants entrapped in dental calculus

Neanderthals disappeared sometime between 30,000 and 24,000?years ago. Until recently, Neanderthals were understood to have been predominantly meat-eaters; however, a growing body of evidence suggests their diet also included plants. We present the results of a study, in which sequential thermal desorption-gas chromatography-mass spectrometry (TD-GC-MS) and pyrolysis-gas chromatography-mass spectrometry (Py-GC-MS) were combined with morphological analysis of plant microfossils, to identify material entrapped in dental calculus from five Neanderthal individuals from the north Spanish site of El Sidrón. Our results provide the first molecular evidence for inhalation of wood-fire smoke and bitumen or oil shale and ingestion of a range of cooked plant foods. We also offer the first evidence for the use of medicinal plants by a Neanderthal individual. The varied use of plants that we have identified suggests that the Neanderthal occupants of El Sidrón had a sophisticated knowledge of their natural surroundings which included the ability to select and use certain plants.     

Effects of gene flow from IMI resistant sunflower crop to wild Helianthus annuus populations

Wild sunflower, H. annuus ssp. annuus, is an invasive species widely distributed in several regions of the world, including central Argentina where it shares a large area with domesticated sunflower. The discovery of imidazolinone resistance in a wild sunflower population allowed the development of Clearfield^® technology in cultivated sunflower. This technology was rapidly adopted in Argentina but the trait could possibly be transferred to the naturalized wild populations through natural hybridization. The aim of this study was to evaluate the transfer of IMI resistance to wild sunflower populations and its effect on wild plants’ fitness. Plants of five wild populations and their progenies of crosses with an IMI-resistant hybrid were evaluated through a dormancy, herbicide resistance, and SSR markers study. Relative fitness was compared in the five populations, F1s and backcrosses with wild and crop parental plants. Hybridization with an IMI-resistant hybrid did not alter seed dormancy. F1 individuals were more resistant to imazapyr than their wild ancestors but less tolerant than the commercial variety. SSR markers confirmed the transfer of resistance and identified resistant plants within the wild populations. Fitness was reduced in the first generation after crossing but was recovered in the following generations. Thus, to ensure durability and efficiency of Clearfield^® technology, management practices like crop rotation and herbicide usage with different modes of action should be considered.     

Sustainable cities: do political factors determine the quality of life?

The implementation of urban sustainability practices is affected by political obstacles, and diverse political ideologies may defend different city models. Sustainable policy design could also be affected by several factors that cause the deflection of resources initially allocated to other groups that are contrary to the concerns pursued and have the power to veto sustainable plans by exerting pressure on the party in power.In this sense, the aim of this paper is to show the impact that political factors have on cities’ sustainability, and the effect of both on cities’ economic development. To do so, we used the 78 Spanish cities with a population over 100,000 studied by MERCO (Spanish Corporate Reputation Monitor) as regards their levels of sustainability for the fiscal years 2008 and 2009. Both relationships have been tested empirically through two dependence models using linear regression techniques.The results obtained show that political competition improves cities’ sustainability, while a leftist ideology has an inverse impact. On the other hand, a significant direct relationship has been observed between urban sustainability and municipal economic activity.     

Sex-specific effects of parasites on telomere dynamics in a short-lived passerine—the blue tit

The pollination syndrome concept implies that flowers evolved with particular sets of characteristics, such as colors, shapes, orientations, and rewards, as a means of attracting pollinators. However, these traits may have also evolved to deter unwanted visitors. The North American genus Penstemon exhibits a great floral diversity that is mainly associated with bumblebee and hummingbird pollination. Evolutionary shifts from insect pollination to hummingbird pollination have occurred in Penstemon repeatedly, but some species maintain mixed-pollination systems and intermediate floral traits between bee- and hummingbird-pollination modes. The apparently intermediate floral traits of species with mixed-pollination systems might be potentially acting to deter bumblebee foragers. Then, bird-flower traits might be selected with increased hummingbird visitation over evolutionary time might, resulting in specialization to and the evolution of floral traits present in hummingbird-pollinated species. Here, we modified bee-pollination floral traits in Penstemon gentianoides with a mixed pollination system, to resemble hummingbird-pollination traits, and measured the effects of trait modification on bumblebee foraging behavior and plant female reproductive fitness. Our results showed that reduction in the width of the corolla tube and the absence of the corolla lip negatively affects bumblebee visitation and their efficiency as pollinators, and that the synergistic interaction of both traits enhanced the “anti-bee” effect. We conclude that acquisition of floral traits that resemble those of hummingbird-pollination enables Penstemon plant species to deter bumblebee visits.

     

Ecological restoration as a strategy for mitigating and adapting to climate change: lessons and challenges from Brazil

Climate change is a global phenomenon that affects biophysical systems and human well-being. The Paris Agreement of the United Nations Framework Convention on Climate Change entered into force in 2016 with the objective of strengthening the global response to climate change by keeping global temperature rise this century well below 2 °C above pre-industrial levels and to pursue efforts to limit the temperature increase even further to 1.5 °C. The agreement requires all Parties to submit their “nationally determined contributions” (NDCs) and to strengthen these efforts in the years ahead. Reducing carbon emissions from deforestation and forest degradation is an important strategy for mitigating climate change, particularly in developing countries with large forests. Extensive tropical forest loss and degradation have increased awareness at the international level of the need to undertake large-scale ecological restoration, highlighting the need to identify cases in which restoration strategies can contribute to mitigation and adaptation. Here we consider Brazil as a case study to evaluate the benefits and challenges of implementing large-scale restoration programs in developing countries. The Brazilian NDC included the target of restoring and reforesting 12 million hectares of forests for multiple uses by 2030. Restoration of native vegetation is one of the foundations of sustainable rural development in Brazil and should consider multiple purposes, from biodiversity and ecosystem services conservation to social and economic development. However, ecological restoration still presents substantial challenges for tropical and mega-diverse countries, including the need to develop plans that are technically and financially feasible, as well as public policies and monitoring instruments that can assess effectiveness. The planning, execution, and monitoring of restoration efforts strongly depend on the context and the diagnosis of the area with respect to reference ecosystems (e.g., forests, savannas, grasslands, wetlands). In addition, poor integration of climate change policies at the national and subnational levels and with other sectorial policies constrains the large-scale implementation of restoration programs. The case of Brazil shows that slowing deforestation is possible; however, this analysis highlights the need for increased national commitment and international support for actions that require large-scale transformations of the forest sector regarding ecosystem restoration efforts. Scaling up the ambitions and actions of the Paris Agreement implies the need for a global framework that recognizes landscape restoration as a cost-effective nature-based solution and that supports countries in addressing their remaining needs, challenges, and barriers.

     

Impacts of Mauritia flexuosa degradation on the carbon stocks of freshwater peatlands in the Pastaza-Marañón river basin of the Peruvian Amazon

Tropical peat swamp forests (PSF) are characterized by high quantities of carbon (C) stored as organic soil deposits due to waterlogged conditions which slows down decomposition. Globally, Peru has one of the largest expanse of tropical peatlands, located primarily within the Pastaza-Marañón river basin in the Northwestern Peru. Peatland forests in Peru are dominated by a palm species—Mauritia flexuosa, and M. flexuosa-dominated forests cover ~?80% of total peatland area and store ~?2.3 Pg C. However, hydrologic alterations, land cover change, and anthropogenic disturbances could lead to PSF’s degradation and loss of valuable ecosystem services. Therefore, evaluation of degradation impacts on PSF’s structure, biomass, and overall C stocks could provide an estimate of potential C losses into the atmosphere as greenhouse gases (GHG) emissions. This study was carried out in three regions within Pastaza-Marañón river basin to quantify PSF’s floristic composition and degradation status and total ecosystem C stocks. There was a tremendous range in C stocks (Mg C ha^?1) in various ecosystem pools—vegetation (45.6–122.5), down woody debris (2.1–23.1), litter (2.3–7.8), and soil (top 1 m; 109–594). Mean ecosystem C stocks accounting for the top 1 m soil were 400, 570, and 330 Mg C ha^?1 in Itaya, Tigre, and Samiria river basins, respectively. Considering the entire soil depth, mean ecosystem C stocks were 670, 1160, and 330 Mg C ha^?1 in Itaya, Tigre, and Samiria river basins, respectively. Floristic composition and calcium to Magnesium (Ca/Mg) ratio of soil profile offered evidence of a site undergoing vegetational succession and transitioning from minerotrophic to ombrotrophic system. Degradation ranged from low to high levels of disturbance with no significant difference between regions. Increased degradation tended to decrease vegetation and forest floor C stocks and was significantly correlated to reduced M. flexuosa biomass C stocks. Long-term studies are needed to understand the linkages between M. flexuosa harvest and palm swamp forest C stocks; however, river dynamics are important natural drivers influencing forest succession and transition in this landscape.