Carrier detection and microsatellite analysis of duchenne and becker muscular dystrophy in spanish families

Duchenne and Becker muscular dystrophy (D/BMD) are usually problematical when trying to determine the carrier status of at-risk women, which usually has to be based on haplotype or dosage analysis on Southern blots. Using multiplex polymerase chain reaction (PCR) analysis, we have detected deletions in 20 out of 44 D/BMD families with living affected members (45·5 per cent), more often in sporadic cases of DMD (14/22 with detectable deletion) than in familial ones (4/15), the majority (15/20) occurring in the distal region of the D/BMD gene. Four highly informative short tandem repeat polymorphisms (STRPs), which lie within the distal deletion hot spot of the D/BMD gene, can show loss of heterozygosity in carrier females, providing direct evidence of their carrier status. These STRPs greatly improve informativity, with a combined heterozygosity of 100 per cent and with the majority of families informative for three of the four STRPs. In 14/15 (93 per cent) of the families with distal deletions, the STRPs provided direct information on carrier status, and in some cases, they provide valuable information on recombination breakpoints and non-paternity.     

可持续生产与消费方式:因素与挑战

21世纪议程将不可持续发展的生产与消费方式,尤其是在发达国家,确定为全球环境恶化的主要原因.虽然大部分的问题源于发达国家,但是世界上最贫穷的地区却在承受最严重的后果.在当今的全球市场中,发展中国家会承受越来越多的由于生产落后而导致的社会以及环境影响.     

Application of a tri-capital community resilience framework for assessing the social–ecological system sustainability of community-based forest management in the Philippines

This study proposes and empirically tests a framework that integrates the concepts of community resilience and social–ecological system (SES) resilience through community forestry case studies. The framework provides a possible approach for assessing community resilience based on the development and allocation of socio-cultural, economic, and natural capital of individual households within a given forest community. Furthermore, aspects of SES resilience and system dynamics are used to define the potential state thresholds of community resilience. This exploratory attempt to quantify community resilience, using the proposed framework, aims to advance understanding of the conceptual overlaps of SES and community resilience as applied to forestry management. We consider community forestry groups as SES examples in which the community is an important stakeholder in managing natural forest capital. We selected pioneer communities under the community-based forest management (CBFM) Program in the Philippines as our case studies. We found that, on average, CBFM group members demonstrated moderate levels of resilience according to their acquired levels of capital. Although economic capital remained the weakest capital, the CBFM program had a positive effect in increasing the socio-cultural and natural capital of an entire community.     

Multi-biomarker responses in green mussels exposed to PFCs: effects at molecular,cellular, and physiological levels

Perfluorinated chemicals (PFCs) are extremely persistent and have been found extensively in the environment and wildlife. Oceans are the final sink for many persistent organic pollutants (POPs) including PFCs. However, to date, there has been a lack of studies that investigated the environmental consequences of PFCs on marine organisms. To fill in this gap, environmental toxicity of two dominant PFCs, perfluorooctane sulfonate (PFOS) and perfluorooctanoate (PFOA), was examined in a sentinel species, green mussel Perna viridis, using a series of biomarkers corresponding to different biological levels (molecular, cellular, and physiological). Correlations among these biomarkers were also investigated. The results showed that the tested compounds can induce a series adverse effect at different biological levels, including oxidative stress, DNA damage, membrane instability, suppressed filtration rate, and reduced body weight. Correlation analysis revealed that excess production of reactive oxygen species could be the major toxic pathway. An indirect mode of toxic action was also explored where adverse impacts could be secondary effects of PFC exposure. The joint analysis of biomarkers from multiple biological levels resulted in a comprehensive understanding of how PFC exposure can influence the health of organisms. The correlations of these biomarkers also provided a new perspective of the ecological consequences of PFCs.     

Biodegradation of Poly(vinyl alcohol) and Bacterial Cellulose Composites by <Emphasis Type="Italic">Aspergillus niger</Emphasis>

The ability of fungal strains to attack a composite material obtained from poly(vinyl alcohol) (PVA) and bacterial cellulose (BC) is investigated. The fungal strain tested was Aspergillus niger. This fungal strain was able to change not only the polymer surface from smoother to rougher, but also to disrupt the polymer. The degradation results were confirmed by visual observations, scanning electron microscopy (SEM) analyses, X-ray diffraction analyses and FTIR spectra of the film samples. SEM micrographs confirmed the growth of fungi on the composite film surface. The degree of microbial degradation depends on culture medium and on composition of polymeric materials, especially on PVA content. The biodegradation process is accelerated by the presence of glucose in the culture medium as an easily available carbon source.     

Toward systemic campus sustainability: gauging dimensions of sustainable development via a motivational and perception-based approach

Universities have long borne an influential role in sustainability. Nonetheless, the affinity toward eclectic and piecemeal practices has been addressed as oxymoron to the essence of sustainable development, and the need to hone campus members’ buy-in is credited to be cardinal for systemic transformation. Major attributes for systemic campus sustainability are identified, incorporated, and proposed via a conceptual model. Those attributes are key sustainable development areas as well as perception and motivation on the topics that must be taken into consideration by universities to be able to adhere to a more pragmatic and inclusive sustainable development. Thus, the central intent of the authors is to offer a mechanism which may facilitate as well as elevate systemic campus sustainability. An extensive review of the literature in the area of sustainability, perception, and motivation is conducted, which includes articles, journals, conference proceedings, university reports, books, and materials from websites. By extracting and integrating crucial constituents of sustainable development from various studies, this paper contributes to the existing literature on sustainable development providing an input to the implementation of systemic campus sustainability.