Use of denaturing gradient gel electrophoresis in screening unknown β-thalassemia mutations in Egyptian patients

The molecular defects resulting in a β-thalassemia phenotype, in the Egyptian population show a clear heterogenic pattern. Many studies have embarked on the molecular detection and characterization of these mutations, using a wide array of the available techniques with successful detection of both known and unknown mutations. PCR based techniques, as well as direct DNA sequencing are effective with some limitations as regards the time, effort and high cost to reach a final diagnosis. Intermediary screening techniques have proved to be effective tools to overcome these drawbacks. This study aims to assess the use of the denaturing gradient gel electrophoresis (DGGE)1 to detect b-thalassemia mutations prior to the performance of direct sequencing to minimize the cost and workload involved in the process. In this study, forty-two previously genotyped patients in a study by El-Gawhary et al. in 2007, have been analyzed by DGGE for fragment 2 then 1. These are the β-globin gene fragments showing the majority of the β-thalassemia mutations. Sixty-eight alleles out of 79 mutant alleles in total were detected within these two fragments. The 11 undetected alleles comprise 9 alleles that require further examination using other DGGE fragments (0, 4 and 5) and correspond to -87(C > G), intervening sequence (IVS)II-1(G >A), IVS II-745, and IVS II-848(C > A). The remaining two that failed detection correspond to codon (CD) 37(G> A). Although, IVS-II 745(C >G) is undetectable within these two fragments, its 100% linkage polymorphism (+20 C> T) was detected in fragment 1 gel. DGGE is a sensitive technique to screen for β-thalassemia mutations. For simultaneous analysis of multiple samples with unknown mutations, it is recommended that direct DNA sequencing be coupled with DGGE whenever available to reduce time, effort and cost.Keywords: β-Thalassemia; DGGE; PCR; Mutations; Polymorphism; Screenin

Collaborative governance networks: A case study of argentina’s forest law

Deforestation causes biodiversity loss and the eviction of small-scale ranchers and indigenous people. Accordingly, it is a global issue in environmental politics. This article analyzes a participatory governance system associated with the implementation of Argentina’s forest law in a hotspot of deforestation: the province of Salta in the Gran Chaco ecoregion. Specifically, this article investigates policy actors’ core beliefs, how they match with policy network clusters, and how this affects the implementation of the forest law. The study is based on a unique data set derived from extensive fieldwork and a network survey among all actors who participate in the policy forums. After defining three main core beliefs that describe policy actors’ motivations, we systematically analyze all key actors’ beliefs as well as their interactions in the various policy networks. This analysis shows that it is necessary to empirically identify coalitions based on both behavior and core beliefs to understand the limited implementation of the law. Our methodological approach holds promise for the analysis of other governance systems where multiple stakeholders engage in consensus-oriented decision-making

Codifying and commodifying nature: Narratives on forest property rights and the implementation of tenure regularization policies in Northwestern Argentina

Environmental resource management requires negotiation among state and non-state actors with conflicting goals and different levels of influence. In northwestern Argentina, forest policy implementation is described as weak, due to governance structure and ambiguities in the law. We studied how policy actors’ attitudes and their positions in the forest governance network relate to the implementation of land tenure regularization in a context where land tenure regularization is at the core of struggles over environmental policies. We focused on the Chaco Salteño part of the Gran Chaco ecosystem, one of the world’s major deforestation frontiers. We argue that the presence of weak advocacy coalitions requires an analysis of agency to understand this policy process. Our policy network analysis revealed a lack of clear contrasting factions, due to a core–periphery structure. The core of the network brings together all core beliefs but not all of the most influential actors. Assessing network centrality and reputational influence enabled us to identify actors with exceptional agency. We contribute to the debates on advocacy coalitions and on land tenure by distinguishing between attitudes toward tenure regularization policies and their actual implementation in a context where actors have diverging interests and objectives

Hypernetwork functional image representation

Motivated by the human way of memorizing images we introduce their functional representation, where an image is represented by a neural network. For this purpose, we construct a hypernetwork which takes an image and returns weights to the target network, which maps point from the plane (representing positions of the pixel) into its corresponding color in the image. Since the obtained representation is continuous, one can easily inspect the image at various resolutions and perform on it arbitrary continuous operations. Moreover, by inspecting interpolations we show that such representation has some properties characteristic to generative models. To evaluate the proposed mechanism experimentally, we apply it to image super-resolution problem. Despite using a single model for various scaling factors, we obtained results comparable to existing super-resolution methods

Chemically stable new MAX phase V2SnC:a damage and radiation tolerant TBC material

Using density functional theory, the phase stability and physical properties, including structural, electronic, mechanical, thermal and vibrational with defect processes, of a newly synthesized 211 MAX phase V2SnC are investigated for the first time. The obtained results are compared with those found in the literature for other existing M2SnC (M = Ti, Zr, Hf, Nb, and Lu) phases. The formation of V2SnC is exothermic and this compound is intrinsically stable in agreement with the experiment. V2SnC has potential to be etched into 2D MXene. The new phase V2SnC and existing phase Nb2SnC are damage tolerant. V2SnC is elastically more anisotropic than Ti2SnC and less than the other M2SnC phases. The electronic band structure and Fermi surface of V2SnC indicate the possibility of occurrence of its superconductivity. V2SnC is expected to be a promising TBC material like Lu2SnC. The radiation tolerance in V2SnC is better than that in Lu2SnC

312 MAX Phases: Elastic Properties and Lithiation

Interest in the Mn+1AXn phases (M = early transition metal; A = group 13–16 elements, and X = C or N) is driven by their ceramic and metallic properties, which make them attractive candidates for numerous applications. In the present study, we use the density functional theory to calculate the elastic properties and the incorporation of lithium atoms in the 312 MAX phases. It is shown that the energy to incorporate one Li atom in Mo3SiC2, Hf3AlC2, Zr3AlC2, and Zr3SiC2 is particularly low, and thus, theoretically, these materials should be considered for battery applications