Prenatal molecular diagnosis in hypertrophic cardiomyopathy: report of the first case

Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disease that may cause premature sudden death, especially in teenagers and young adults. The recent progress in the molecular genetics of the disease has made genetic testing sometimes available in clinical practice. We report the case of a couple who still requested prenatal molecular testing after detailed information had been given through a multidisciplinary consultation. Prenatal diagnosis in HCM is associated with complex medical and psychological implications, in addition to general ethical considerations, as the potential value of the diagnosis is counterbalanced by the highly variable expression of the disease and the difficulty in predicting its evolution. The R403L mutation in the MYH7 gene had been previously identified in this family, characterized by a malignant form of HCM. In the specific context of this case, we decided to agree to the request of the parents and performed the prenatal diagnosis. To the best of our knowledge, this is the first report of a prenatal molecular diagnosis performed in the context of HCM. Copyright © 2004 John Wiley & Sons, Ltd.     

Development of a simulator for training of fetoscopic myelomeningocele surgery

Objective

To develop a realistic simulation model for laparotomy-assisted fetoscopic spina bifida aperta (SBa) surgery, to be used for training purposes and preoperative planning.

Methods

The predefined general requirement was a realistic model of an exteriorized uterus, allowing all neurosurgical steps of the intervention. The uterus was modelled using ultrasound and MRI images of a 25 weeks’ gravid uterus, consisting of flexible polyurethane foam coated with pigmented silicone. The fetal model, contained an opening on the dorsal side for a customizable spinal insert with all the aspects of a SBa, including a cele, placode, and myofascial and skin layer. The model was assessed in a series of validation experiments.

Results

Production costs are low, uterus and fetus are reusable. Placental localization and the level and size of the spinal defect are adjustable, enabling case-specific adaptations. All aspects of the simulator were scored close to realistic or higher for both appearance and functional capacities.

Conclusions

This innovative model provides an excellent training opportunity for centers that are starting a fetoscopic SBa repair program. It is the first simulation model with adjustable spinal defect and placental localisation. Further objective validation is required, but the potential for using this model in preoperative planning is promising.     

Plant Diversity in Live Fences and Pastures,Two Examples from the Mexican Humid Tropics

This study analyzes the potential uses of live fences and pastures as reservoirs of plant diversity for two regions with different management histories, Los Tuxtlas (LT) and Uxpanapa (UX), Veracruz, México. We studied two habitats, live fences and pastures, analyzed their species richness, diversity, structure and plant composition and classified species according to plant regeneration modes (light-demanding and shade tolerant), seed dispersal syndrome and their local uses. We recorded 62 species of trees at LT and 48 at UX. Live fences were more diverse than pastures in both regions. The LT site showed to analyze the relationship a higher diversity of plants in regeneration stages than the one at UX. However, UX had higher diversity of adult plants in the pastures than LT. Composition and structure of live fences were different between regions, as well as within live fences and pastures, 53 % of species were light-demanding and 40 % were shade tolerant; 70 % of the species were dispersed by birds. Differences between sites are associated with the modifications in live fences structure, which changed according to managerial practices and the use of local species; this may influence plant regeneration modes as well as the visits of avian dispersal agents. In LT, all species found in live fences were useful to humans, whereas in UX, less than half were used by the local population. Our results underline the importance of live fences and isolated trees in pasture habitats as potential sites to host native and useful species from tropical rain forests in livestock landscapes.     

Vegetation productivity under climate change depends on landscape complexity in tropical drylands

Mitigation and Adaptation Strategies for Global Change - All Clean Development Mechanism (CDM) projects are designed to contribute to the sustainable development of the host country. Livelihood is...     

Optimal Experimental Conditions for Improving the Yield of Poly(limonene) from Photoinduced Polymerization

Journal of Polymers and the Environment - Limonene represents a possible candidate for the synthesis of polymers from renewable sources. However, because of some structural characteristics, the...     

A comparative study of photo-Fenton process assisted by natural sunlight,UV-A,or visible LED light irradiation for degradation of real textile wastewater: factorial designs,kinetics, cost assessment,and phytotoxicity studies

Environmental Science and Pollution Research - The present work aims to evaluate the treatment of the effluent from the textile industry via advanced oxidative processes of photo-Fenton assisted by...     

Recent history of the European Nassarius nitidus (Gastropoda): phylogeographic evidence of glacial refugia and colonization pathways

Because marine species respond differentially to factors governing survival and gene flow, closely related taxa may display dissimilar phylogeographic histories. New data for the patchily distributed gastropod Nassarius nitidus throughout its Atlantic–Mediterranean range (collected during 2008 and 2009) were used to investigate its phylogeography and recent demography. Results based on mitochondrial COI sequences of 422?N. nitidus individuals from 15 localities revealed contrasting phylogeographic and demographic patterns among N. nitidus populations from each basin. Data suggest the existence of two glacial refugia, one in the Atlantic, around the Iberian Peninsula, and the other in the Paleo-Mediterranean Sea (Adriatic). Bayesian skyline reconstructions suggest that the Adriatic population of N. nitidus remained largely unaffected by the Last Glacial Maximum (LGM), whereas the Iberian Atlantic region experienced dramatic exponential growth after its conclusion. Contemporary North Sea populations of N. nitidus are the endpoint of a leading-edge recolonization process from a southern position. Additionally, a reanalysis of pre-existing material for the continuously distributed close congener N. reticulatus was used to compare both species in the late histories. In contrast to N. nitidus, N. reticulatus prospered during the LGM and experienced an earlier Atlantic expansion during the previous interglacial period. Despite similar life history and dispersal potential, the results here presented suggest that subtle differences in microhabitat requirements between the two species have had important consequences for their particular distribution in response to glacial events.     

Supramolecular complex formation,a possible antigenotoxic mechanism of glucomannan against aflatoxin B1

Abstract

Glucomannan is a highly branched polysaccharide with glycosidic linkages, constituted of mannoses and glucoses. In recent years, its usefulness due to its immunological, antioxidant and antimutagenic activity has been recognized. The aim of the study was to determine the antigenotoxic ability of glucomannan extracted from Candida utilis orally administered (100–700?mg/kg) to mice, which subsequently received 1?mg/kg aflatoxin B₁. Hepatocytes obtained from these animals 4–16?h post administration were examined by means of the comet assay. The antigenotoxic effect was found to be higher than that observed in previous studies with α-mannan and β-D-glucan isolated from Saccharomyces cerevisiae., In order to explore the possibility of formation of a supramolecular complex between glucomannan and aflatoxin B₁, both compounds were co-crystallized, their melting points determined, and the complex analyzed through ultraviolet spectroscopy. The spectroscopy data suggest that the protective effect of glucomannan is related to the formation of a supramolecular complex between the two compounds.     

Use of environmental DNA in assessment of fish functional and phylogenetic diversity

Assessing the impact of global changes and protection effectiveness is a key step in monitoring marine fishes. Most traditional census methods are demanding or destructive. Nondisturbing and nonlethal approaches based on video and environmental DNA are alternatives to underwater visual census or fishing. However, their ability to detect multiple biodiversity factors beyond traditional taxonomic diversity is still unknown. For bony fishes and elasmobranchs, we compared the performance of eDNA metabarcoding and long-term remote video to assess species’ phylogenetic and functional diversity. We used 10 eDNA samples from 30 L of water each and 25 hr of underwater videos over 4 days on Malpelo Island (pacific coast of Colombia), a remote marine protected area. Metabarcoding of eDNA detected 66% more molecular operational taxonomic units (MOTUs) than species on video. We found 66 and 43 functional entities with a single eDNA marker and videos, respectively, and higher functional richness for eDNA than videos. Despite gaps in genetic reference databases, eDNA also detected a higher fish phylogenetic diversity than videos; accumulation curves showed how 1 eDNA transect detected as much phylogenetic diversity as 25 hr of video. Environmental DNA metabarcoding can be used to affordably, efficiently, and accurately census biodiversity factors in marine systems. Although taxonomic assignments are still limited by species coverage in genetic reference databases, use of MOTUs highlights the potential of eDNA metabarcoding once reference databases have expanded.     

Packaging waste recycling in Europe: Is the industry paying for it?

This paper describes and examines the schemes established in five EU countries for the recycling of packaging waste. The changes in packaging waste management were mainly implemented since the Directive 94/62/EC on packaging and packaging waste entered into force. The analysis of the five systems allowed the authors to identify very different approaches to cope with the same problem: meet the recovery and recycling targets imposed by EU law. Packaging waste is a responsibility of the industry. However, local governments are generally in charge of waste management, particularly in countries with Green Dot schemes or similar extended producer responsibility systems. This leads to the need of establishing a system of financial transfers between the industry and the local governments (particularly regarding the extra costs involved with selective collection and sorting). Using the same methodological approach, the authors also compare the costs and benefits of recycling from the perspective of local public authorities for France, Portugal and Romania. Since the purpose of the current paper is to take note of who is paying for the incremental costs of recycling and whether the industry (i.e. the consumer) is paying for the net financial costs of packaging waste management, environmental impacts are not included in the analysis. The work carried out in this paper highlights some aspects that are prone to be improved and raises several questions that will require further research. In the three countries analyzed more closely in this paper the industry is not paying the net financial cost of packaging waste management. In fact, if the savings attained by diverting packaging waste from other treatment (e.g. landfilling) and the public subsidies to the investment on the “recycling system” are not considered, it seems that the industry should increase the financial support to local authorities (by 125% in France, 50% in Portugal and 170% in Romania). However, in France and Portugal the industry is paying local authorities more than just the incremental costs of recycling (full costs of selective collection and sorting minus the avoided costs). To provide a more definitive judgment on the fairness of the systems it will be necessary to assess the cost efficiency of waste management operators (and judge whether operators are claiming costs or eliciting “prices”).