On stochastic sea of the standard map

Consider a generic one-parameter unfolding of a homoclinic tangency of an area preserving surface diffeomorphism. We show that for many parameters (residual subset in an open set approaching the critical value) the corresponding diffeomorphism has a transitive invariant set $\Omega$ of full Hausdorff dimension. The set $\Omega$ is a topological limit of hyperbolic sets and is accumulated by elliptic islands. As an application we prove that stochastic sea of the standard map has full Hausdorff dimension for sufficiently large topologically generic parameters.Comment: 36 pages, 5 figure

New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving TWIST1 regulatory elements

Background Auriculocondylar syndrome (ARCND) is a rare genetic disease that affects structures derived from the first and second pharyngeal arches, mainly resulting in micrognathia and auricular malformations. To date, pathogenic variants have been identified in three genes involved in the EDN1-DLX5/6 pathway (PLCB4, GNAI3 and EDN1) and some cases remain unsolved. Here we studied a large unsolved four-generation family. Methods We performed linkage analysis, resequencing and Capture-C to investigate the causative variant of this family. To test the pathogenicity of the CNV found, we modelled the disease in patient craniofacial progenitor cells, including induced pluripotent cell (iPSC)-derived neural crest and mesenchymal cells. Results This study highlights a fourth locus causative of ARCND, represented by a tandem duplication of 430 kb in a candidate region on chromosome 7 defined by linkage analysis. This duplication segregates with the disease in the family (LOD score=2.88) and includes HDAC9, which is located over 200 kb telomeric to the top candidate gene TWIST1. Notably, Capture-C analysis revealed multiple cis interactions between the TWIST1 promoter and possible regulatory elements within the duplicated region. Modelling of the disease revealed an increased expression of HDAC9 and its neighbouring gene, TWIST1, in neural crest cells. We also identified decreased migration of iPSC-derived neural crest cells together with dysregulation of osteogenic differentiation in iPSC-affected mesenchymal stem cells. Conclusion Our findings support the hypothesis that the 430 kb duplication is causative of the ARCND phenotype in this family and that deregulation of TWIST1 expression during craniofacial development can contribute to the phenotype.Molecular Technology and Informatics for Personalised Medicine and Healt

Avaliação de Características Químicas do Solo Durante a Decomposição Cadavérica e suas Aplicações à Química Forense

The estimation of the Post-Mortem Interval (PMI) is a primordial parameter in the investigation of crimes against life. In tropical climate areas, the cadaveric decomposition occurs in an accelerated form, preventing the PMI estimation by usual methods. Understanding how different circumstances affect the cadaveric composition is very important to develop methods that enable the PMI estimation in several climatic conditions. One of the alternatives, however not much explored in Brazil, refers to the use of soil chemistry for the determination of longstanding PMIs. In this research, variations in soil chemical properties were monitored during swine carcasses cadaverous decomposition in a tropical forest area in order to recognize patterns and evaluate the applicability of these by the criminal expertise. Among the evaluated characteristics are the levels of pH, inorganic nitrogen (ammonia and nitrate), total nitrogen, carbon nitrogen proportion (C: N), exchangeable aluminum, available phosphorus and macro and micronutrients. The results showed distinct variations according to the decomposition phases observed and also to the way the carcasses were deposited in the study environment (above or below the soil), evidencing the possibility of using these variations in the development of models for the prediction of postmortem intervals lasting up to 67 days. © 2018 Secretaria Regional do Rio de Janeiro da Sociedade Brasileira de Quimica. All rights reserved