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31.
Regional Environmental Change - Mountain ecosystems provide key services to a large portion of the population in the tropics. However, they are particularly vulnerable to regional environmental...  相似文献   
32.
In the frame of an epidemiological study carried out in the influence areas around the Spanish nuclear facilities (ISCIII-CSN, 2009. Epidemiological Study of The Possible Effect of Ionizing Radiations Deriving from The Operation of Spanish Nuclear Fuel Cycle Facilities on The Health of The Population Living in Their Vicinity. Final report December 2009. Ministerio de Ciencia e Innovación, Instituto de Salud Carlos III, Consejo de Seguridad Nuclear. Madrid. Available from: http://www.csn.es/images/stories/actualidad_datos/especiales/epidemiologico/epidemiological_study.pdf), annual effective doses to public have been assessed by the Spanish Nuclear Safety Council (CSN) for over 45 years using a retrospective realistic-dose methodology. These values are compared with data from natural radiation exposure. For the affected population, natural radiation effective doses are in average 2300 times higher than effective doses due to the operation of nuclear installations (nuclear power stations and fuel cycle facilities). When considering the impact on the whole Spanish population, effective doses attributable to nuclear facilities represent in average 3.5 × 10−5 mSv/y, in contrast to 1.6 mSv/y from natural radiation or 1.3 mSv/y from medical exposures.  相似文献   
33.
The current state of Mediterranean mountain areas has been driven by two main factors: intense traditional human activity and the dynamics of the ecosystem itself. In this study, we examine land-cover changes in a National Park in the Pyrenees mountains (NE Iberian Peninsula), which was designated a protected area 55 years ago. First, we have analyzed spatio-temporal changes in land-cover pattern and forest dynamics from 1957 to 2005. During this period, land-cover dynamics consisted of two main processes: (i) expansion of the forest area and (ii) increasing cover of forests already present in 1957. To analyze the role of the conservation level of the park, we have also compared the results obtained within the park with those of unprotected, peripheral areas. In the two areas with different protection level, dense forests increased throughout the period because of the reduction in forestry activities. The peripheral area showed a higher rate of forest-cover change from 1957 to 2005 compared to the National Park. This higher increase in forest cover in the peripheral area could be related to a higher proportion in the National Park of screes and rocky areas and to the decline and transformation of forest activities in these peripheral, lower elevation areas.  相似文献   
34.
35.

Objective

Genomics Quality Assessment has provided external quality assessments (EQAs) for preimplantation genetic testing (PGT) for 12 years for eight monogenic diseases to identify sub-optimal PGT strategies, testing and reporting of results, which can be shared with the genomics community to aid optimised standards of PGT services for couples.

Method

The EQAs were provided in two stages to mimic end-to-end protocols. Stage 1 involved DNA feasibility testing of a couple undergoing PGT and affected proband. Participants were required to report genotyping results and outline their embryo testing strategy. Lymphoblasts were distributed for mock embryo testing for stage 2. Submitted clinical reports and haplotyping results were assessed against peer-ratified criteria. Performance was monitored to identify poor performance.

Results

The most common testing methodology was short tandem repeat linkage analysis (59%); however, the adoption of single nucleotide polymorphism-based platforms was observed and a move from blastomere to trophectoderm testing. There was a variation in testing strategies, assigning marker informativity and understanding test limitations, some clinically unsafe. Critical errors were reported for genotyping and interpretation.

Conclusion

EQA provides an overview of the standard of preimplantation genetic testing-M clinical testing and identifies areas of improvement for accurate detection of high-risk embryos.  相似文献   
36.

Objective

Omphalocele is known to be associated with genetic anomalies like trisomy 13, 18 and Beckwith–Wiedemann syndrome, but not with Turner syndrome (TS). Our aim was to assess the incidence of omphalocele in fetuses with TS, the phenotype of this association with other anomalies, their karyotype, and the fetal outcomes.

Method

Retrospective multicenter study of fetuses with confirmed diagnosis of TS. Data were extracted from a detailed questionnaire sent to specialists in prenatal ultrasound.

Results

680 fetuses with TS were included in this analysis. Incidence of small omphalocele in fetuses diagnosed ≥12 weeks was 3.1%. Including fetuses diagnosed before 12 weeks, it was 5.1%. 97.1% (34/35) of the affected fetuses had one or more associated anomalies including increased nuchal translucency (≥3 mm) and/or cystic hygroma (94.3%), hydrops/skin edema (71.1%), and cardiac anomalies (40%). The karyotype was 45,X in all fetuses. Fetal outcomes were poor with only 1 fetus born alive.

Conclusion

TS with 45,X karyotype but not with X chromosome variants is associated with small omphalocele. Most of these fetuses have associated anomalies and a poor prognosis. Our data suggest an association of TS with omphalocele, which is evident from the first trimester.  相似文献   
37.
A dicentric X chromosome was found in a female fetus during cytogenetic studies performed on amniotic cells. Blood samples from the parents showed normal karyotypes and the pregnancy was terminated. The mechanism for the formation of this ‘de novo’ rearrangement is discussed.  相似文献   
38.
Both sexes of Phoenicoprocta capistrata have functional tymbals. The scanning electron microscopy revealed differences in the morphology of these organs in males and females. Male tymbals have a well-developed striated band, constituted by 21 ± 2 regularly arranged striae whereas female tymbals lack a striated band. This type of sexual dimorphism is rare in Arctiidae. The recording of the sound produced by moths held by the wings revealed that while males produced trains of pulses organized in modulation cycles, females produced clicks at low repetition rate following very irregular patterns. Statistically, there are differences between sexes in terms of the duration of pulses, which were 355 ± 24 μs in the case of males and 289 ± 29 μs for females. The spectral characteristics of the pulses also show sexual dimorphism. Male pulses are more tuned (Q 10 = 5.2 ± 0.5) than female pulses (Q 10 = 2.7 ± 0.5) and have a higher best frequency (42 ± 1 kHz vs. 29 ± 2 kHz). To our knowledge, this is the first report on an arctiid moth showing sexual dimorphism in tymbal’s anatomy that leads to a best frequency dimorphism. Males produce sound at mating attempts. The sounds recorded during mating are modulation cycles with the same spectral characteristics as those recorded when males are held by the wings. The morphological and acoustic features of female tymbals could indicate a process of degeneration and adaptation to conditions under which the emission of complex patterns is not necessary. Frank Coro no longer works at Universidad de La Habana.  相似文献   
39.
Recent studies on ecological networks have quantified the contribution of ecological, historical, and evolutionary factors on the structure of local communities of interacting species. However, the influence of species’ biogeographical traits, such as migratory habits or phylogeographical history, on ecological networks is poorly understood. Meta-networks, i.e., networks that cover large spatial extensions and include species not co-occurring locally, enable us to investigate mechanisms that operate at larger spatial scales such as migratory patterns or phylogeographical distributions, as well as indirect relationships among species through shared partners. Using a meta-network of hummingbird-plant interaction across Mexico, we illustrate the usefulness of this approach by investigating (1) how biogeographical and morphological factors associate with observed interactions and (2) how species-specific biogeographical characteristics associate with species’ network roles. Our results show that all studied hummingbird and plant species in the meta-network were interrelated, either directly or through shared partners. The meta-network was structured into modules, resulting from hummingbirds and plants interacting preferentially with subsets of species, which differed in biogeographical, and, to a lesser extent, morphological traits. Furthermore, migrants and hummingbirds from Nearctic, Transition, and widespread regions had a higher topological importance in the meta-network. Our study illustrates how meta-networks may contribute to our current knowledge on species’ biogeographical traits and biotic interactions, providing a perspective complementary to local-scale networks.  相似文献   
40.
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