5,210 research outputs found
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation.
Nager syndrome, or acrofacial dysostosis type 1 (AFD1), is a rare multiple malformation syndrome characterized by hypoplasia of first and second branchial arches derivatives and appendicular anomalies with variable involvement of the radial/axial ray. In 2012, AFD1 has been associated with dominant mutations in SF3B4. We report a 22-week-old fetus with AFD1 associated with diaphragmatic hernia due to a previously unreported SF3B4 mutation (c.35-2A>G). Defective diaphragmatic development is a rare manifestation in AFD1 as it is described in only 2 previous cases, with molecular confirmation in 1 of them. Our molecular finding adds a novel pathogenic splicing variant to the SF3B4 mutational spectrum and contributes to defining its prenatal/fetal phenotype
A Stochastic Broadcast Pi-Calculus
In this paper we propose a stochastic broadcast PI-calculus which can be used
to model server-client based systems where synchronization is always governed
by only one participant. Therefore, there is no need to determine the joint
synchronization rates. We also take immediate transitions into account which is
useful to model behaviors with no impact on the temporal properties of a
system. Since immediate transitions may introduce non-determinism, we will show
how these non-determinism can be resolved, and as result a valid CTMC will be
obtained finally. Also some practical examples are given to show the
application of this calculus.Comment: In Proceedings QAPL 2011, arXiv:1107.074
As relações mulher-terra na revista Agriculturas: análise temática e léxica.
Resumo: AtravĂ©s dos artigos da revista Agriculturas, procurou-se entender, qual o lugar e importância das mulheres, a percepção dos autores sobre a contribuição das mulheres e as principais atividades que elas desenvolvem. Os artigos foram selecionados quando tratavam de qualquer temática relacionada Ă s mulheres e Agroecologia. As mulheres representadas atuam diretamente nas atividades produtivas da propriedade e atividades associadas ao desenvolvimento de polĂticas pĂşblicas. Abstract:Through articles of the journal Agriculturas about women and Agroecology, this work studied what is their place and significant role, the authors perception os their contribution and activities performed. The women in the selected articles accomplish activities in the rural property and others associated with the development of public policies
Bisimulation of Labeled State-to-Function Transition Systems of Stochastic Process Languages
Labeled state-to-function transition systems, FuTS for short, admit multiple
transition schemes from states to functions of finite support over general
semirings. As such they constitute a convenient modeling instrument to deal
with stochastic process languages. In this paper, the notion of bisimulation
induced by a FuTS is proposed and a correspondence result is proven stating
that FuTS-bisimulation coincides with the behavioral equivalence of the
associated functor. As generic examples, the concrete existing equivalences for
the core of the process algebras ACP, PEPA and IMC are related to the
bisimulation of specific FuTS, providing via the correspondence result
coalgebraic justification of the equivalences of these calculi.Comment: In Proceedings ACCAT 2012, arXiv:1208.430
Effectiveness of a Multifactorial Intervention in the First 1000 Days of Life to Prevent Obesity and Overweight in Childhood: Study Protoco
(1) Background: Obesity is a global health problem, and its prevention must be a priority goal of public health, especially considering the seriousness of the problem among children. It is known that fetal and early postnatal environments may favor the appearance of obesity in later life. In recent years, the impact of the programs to prevent obesity in childhood has been scarce. The aim of this research is to evaluate the effectiveness of an intervention based on the concept of early programming. (2) Methods: Non-randomized controlled trial design. Inclusion criteria are: two-year-old infants whose gestational period begins in the 14 months following the start of the intervention, and whose mothers have made the complete follow-up of their pregnancy in the same clinical unit of the study. The intervention will be developed over all the known factors that affect early programming, during pregnancy up to 2 years of life. Data will be collected through a data collection sheet by the paediatricians. A unibivariate and multivariate analysis of the data will be carried out. (3) Ethics and dissemination: The trial does not involve any risk to participants and their offspring. Signed informed consent is obtained from all participants. Ethical approval has been obtained. (4) Results: It is expected that this study will provide evidence on the importance of the prevention of obesity from the critical period of the first 1000 days of life, being able to establish this as a standard intervention in primary care
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