13 research outputs found

    Heritability of Strabismus: Genetic Influence Is Specific to Eso-Deviation and Independent of Refractive Error

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    Strabismus represents a complex oculomotor disorder characterized by the deviation of one or both eyes and poor vision. A more sophisticated understanding of the genetic liability of strabismus is required to guide searches for associated molecular variants. In this classical twin study of 1,462 twin pairs, we examined the relative influence of genes and environment in comitant strabismus, and the degree to which these influences can be explained by factors in common with refractive error. Participants were examined for the presence of latent ('phoria') and manifest ('tropia') strabismus using cover-uncover and alternate cover tests. Two phenotypes were distinguished: eso-deviation (esophoria and esotropia) and exo-deviation (exophoria and exotropia). Structural equation modeling was subsequently employed to partition the observed phenotypic variation in the twin data into specific variance components. The prevalence of eso-deviation and exo-deviation was 8.6% and 20.7%, respectively. For eso-deviation, the polychoric correlation was significantly greater in monozygotic (MZ) (r = 0.65) compared to dizygotic (DZ) twin pairs (r = 0.33), suggesting a genetic role (p = .003). There was no significant difference in polychoric correlation between MZ (r = 0.55) and DZ twin pairs (r = 0.53) for exo-deviation (p = .86), implying that genetic factors do not play a significant role in the etiology of exo-deviation. The heritability of an eso-deviation was 0.64 (95% Cl 0.50-0.75). The additive genetic correlation for eso-deviation and refractive error was 0.13 and the bivariate heritability (i.e., shared variance) was less than 1%, suggesting negligible shared genetic effect. This study documents a substantial heritability of 64% for eso-deviation, yet no corresponding heritability for exo-deviation, suggesting that the genetic contribution to strabismus may be specific to eso-deviation. Future studies are now needed to identify the genes associated with eso-deviation and unravel their mechanisms of action

    Hydrolytic and oxidative degradation of electrospun supramolecular biomaterials: In vitro degradation pathways

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    The emerging field of in situ tissue engineering (TE) of load bearing tissues places high demands on the implanted scaffolds, as these scaffolds should provide mechanical stability immediately upon implantation. The new class of synthetic supramolecular biomaterial polymers, which contain non-covalent interactions between the polymer chains, thereby forming complex 3D structures by self assembly. Here, we have aimed to map the degradation characteristics of promising (supramolecular) materials, by using a combination of in vitro tests. The selected biomaterials were all polycaprolactones (PCLs), either conventional and unmodified PCL, or PCL with supramolecular hydrogen bonding moieties (either 2-ureido-[1H]-pyrimidin-4-one or bis-urea units) incorporated into the backbone. As these materials are elastomeric, they are suitable candidates for cardiovascular TE applications. Electrospun scaffold strips of these materials were incubated with solutions containing enzymes that catalyze hydrolysis, or solutions containing oxidative species. At several time points, chemical, morphological, and mechanical properties were investigated. It was demonstrated that conventional and supramolecular PCL-based polymers respond differently to enzyme-accelerated hydrolytic or oxidative degradation, depending on the morphological and chemical composition of the material. Conventional PCL is more prone to hydrolytic enzymatic degradation as compared to the investigated supramolecular materials, while, in contrast, the latter materials are more susceptible to oxidative degradation. Given the observed degradation pathways of the examined materials, we are able to tailor degradation characteristics by combining selected PCL backbones with additional supramolecular moieties. The presented combination of in vitro test methods can be employed to screen, limit, and select biomaterials for pre-clinical in vivo studies targeted to different clinical applications

    Global biodiversity: Indicators of recent declines

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    In 2002, world leaders committed, through the Convention on Biological Diversity, to achieve a significant reduction in the rate of biodiversity loss by 2010. We compiled 31 indicators to report on progress toward this target. Most indicators of the state of biodiversity (covering species’ population trends, extinction risk, habitat extent and condition, and community composition) showed declines, with no significant recent reductions in rate, whereas indicators of pressures on biodiversity (including resource consumption, invasive alien species, nitrogen pollution, overexploitation, and climate change impacts) showed increases. Despite some local successes and increasing responses (including extent and biodiversity coverage of protected areas, sustainable forest management, policy responses to invasive alien species, and biodiversity-related aid), the rate of biodiversity loss does not appear to be slowing.Centre of Excellence for Invasion Biolog

    Efeitos do estresse térmico sobre a produção, composição química do leite e respostas termorreguladoras de cabras da raça alpina Thermal stress effects on milk yield and chemical composition and thermoregulatory responses of lactating alpines goats

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    Seis cabras da raça Alpina, com produção média de leite de 2,5 kg/dia, foram distribuídas aleatoriamente em dois grupos de três e submetidas à termoneutralidade ou estresse térmico por 56 dias em câmara climática. Usou-se um delineamento estatístico "crossover". A temperatura média do ar diurna, incluindo radiação solar simulada, foi de 33,84ºC. Os animais estressados aumentaram a freqüência respiratória, o volume-minuto respiratório, a termólise-evaporativa respiratória, temperatura retal e a taxa de sudorese, enquanto o volume corrente respiratório e o volume globular diminuíram. Houve também perda de peso, redução da ingestão de alimentos e duplicação do consumo de água. A produção de leite e a porcentagem de gordura, proteína, lactose e sólidos totais diminuíram. Os teores de cloretos, cálcio e fósforo não sofreram alteração. Concluiu-se que, para manter a homeotermia, as cabras mobilizaram o sistema respiratório e sudoríparo para perder calor. A alta temperatura ambiente efetiva reduziu a produção e os teores de alguns componentes do leite.<br>Six Alpine goats with an average milk yield of 2.5 kg/day were randomly assigned to two groups of three and allotted to thermoneutral or heat stress conditions, for 56 days in climate chamber room. A crossover experimental design was used. The goats under heat stress were exposed to a diurnal average air temperature plus simulated solar radiation of 33. 84ºC. The heat-stressed goats showed elevated respiratory frequency, respiratory minute volume, respiratory evaporation, rectal temperature and sweating rate, while the tidal volume and packed cell volume decreased. Further weight loss, decreased feed intake, and their water consumption doubled. The milk yield, the percentage of fat, protein, lactose and total solid contents decreased. The contents of chloride, calcium and phosphorus did not change. The goats mobilized the respiratory and sweating systems to lose heat to maintain homeothermy. The association between high air temperature and simulated solar radiation reduced the milk yield and the content of some milk components
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