Interaction between IRF6 and TGFA Genes Contribute to the Risk of Nonsyndromic Cleft Lip/Palate

Previous evidence from tooth agenesis studies suggested IRF6 and TGFA interact. Since tooth agenesis is commonly found in individuals with cleft lip/palate (CL/P), we used four large cohorts to evaluate if IRF6 and TGFA interaction contributes to CL/P. Markers within and flanking IRF6 and TGFA genes were tested using Taqman or SYBR green chemistries for case-control analyses in 1,000 Brazilian individuals. We looked for evidence of gene-gene interaction between IRF6 and TGFA by testing if markers associated with CL/P were overtransmitted together in the case-control Brazilian dataset and in the additional family datasets. Genotypes for an additional 142 case-parent trios from South America drawn from the Latin American Collaborative Study of Congenital Malformations (ECLAMC), 154 cases from Latvia, and 8,717 individuals from several cohorts were available for replication of tests for interaction. Tgfa and Irf6 expression at critical stages during palatogenesis was analyzed in wild type and Irf6 knockout mice. Markers in and near IRF6 and TGFA were associated with CL/P in the Brazilian cohort (p<10-6). IRF6 was also associated with cleft palate (CP) with impaction of permanent teeth (p<10-6). Statistical evidence of interaction between IRF6 and TGFA was found in all data sets (p = 0.013 for Brazilians; p = 0.046 for ECLAMC; p = 10-6 for Latvians, and p = 0.003 for the 8,717 individuals). Tgfa was not expressed in the palatal tissues of Irf6 knockout mice. IRF6 and TGFA contribute to subsets of CL/P with specific dental anomalies. Moreover, this potential IRF6-TGFA interaction may account for as much as 1% to 10% of CL/P cases. The Irf6-knockout model further supports the evidence of IRF6-TGFA interaction found in humans. © 2012 Letra et al

Atlantic mammal traits: a dataset of morphological traits of mammals in the atlantic forest of south America

Measures of traits are the basis of functional biological diversity. Numerous works consider mean species-level measures of traits while ignoring individual variance within species. However, there is a large amount of variation within species and it is increasingly apparent that it is important to consider trait variation not only between species, but also within species. Mammals are an interesting group for investigating trait-based approaches because they play diverse and important ecological functions (e.g., pollination, seed dispersal, predation, grazing) that are correlated with functional traits. Here we compile a data set comprising morphological and life history information of 279 mammal species from 39,850 individuals of 388 populations ranging from −5.83 to −29.75 decimal degrees of latitude and −34.82 to −56.73 decimal degrees of longitude in the Atlantic forest of South America. We present trait information from 16,840 individuals of 181 species of non-volant mammals (Rodentia, Didelphimorphia, Carnivora, Primates, Cingulata, Artiodactyla, Pilosa, Lagomorpha, Perissodactyla) and from 23,010 individuals of 98 species of volant mammals (Chiroptera). The traits reported include body mass, age, sex, reproductive stage, as well as the geographic coordinates of sampling for all taxa. Moreover, we gathered information on forearm length for bats and body length and tail length for rodents and marsupials. No copyright restrictions are associated with the use of this data set. Please cite this data paper when the data are used in publications. We also request that researchers and teachers inform us of how they are using the data.Fil: Gonçalves, Fernando. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Bovendorp, Ricardo S.. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Beca, Gabrielle. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Bello, Carolina. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Costa Pereira, Raul. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Muylaert, Renata L.. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Rodarte, Raisa R.. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Villar, Nacho. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Souza, Rafael. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Graipel, Maurício E.. Universidade Federal de Santa Catarina; BrasilFil: Cherem, Jorge J.. Caipora Cooperativa, Florianopolis; BrasilFil: Faria, Deborah. Universidade Estadual de Santa Cruz; BrasilFil: Baumgarten, Julio. Universidade Estadual de Santa Cruz; BrasilFil: Alvarez, Martín R.. Universidade Estadual de Santa Cruz; BrasilFil: Vieira, Emerson M.. Universidade do Brasília; BrasilFil: Cáceres, Nilton. Universidade Federal de Santa María. Santa María; BrasilFil: Pardini, Renata. Universidade de Sao Paulo; BrasilFil: Leite, Yuri L. R.. Universidade Federal do Espírito Santo; BrasilFil: Costa, Leonora Pires. Universidade Federal do Espírito Santo; BrasilFil: Mello, Marco Aurelio Ribeiro. Universidade Federal de Minas Gerais; BrasilFil: Fischer, Erich. Universidade Federal do Mato Grosso do Sul; BrasilFil: Passos, Fernando C.. Universidade Federal do Paraná; BrasilFil: Varzinczak, Luiz H.. Universidade Federal do Paraná; BrasilFil: Prevedello, Jayme A.. Universidade do Estado de Rio do Janeiro; BrasilFil: Cruz-Neto, Ariovaldo P.. Universidade Estadual Paulista Julio de Mesquita Filho; BrasilFil: Carvalho, Fernando. Universidade do Extremo Sul Catarinense; BrasilFil: Reis Percequillo, Alexandre. Universidade de Sao Paulo; BrasilFil: Paviolo, Agustin Javier. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; ArgentinaFil: Duarte, José M. B.. Universidade Estadual Paulista Julio de Mesquita Filho; Brasil. Fundación Oswaldo Cruz; BrasilFil: Bernard, Enrico. Universidade Federal de Pernambuco; BrasilFil: Agostini, Ilaria. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú | Universidad Nacional de Misiones. Instituto de Biología Subtropical. Instituto de Biología Subtropical - Nodo Puerto Iguazú; ArgentinaFil: Lamattina, Daniela. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste; Argentina. Ministerio de Salud de la Nación; ArgentinaFil: Vanderhoeven, Ezequiel Andres. Ministerio de Salud de la Nación; Argentina. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Nordeste; Argentin

Are We Asking Too Much of the Health Sector? Exploring the Readiness of Brazilian Primary Healthcare to Respond to Domestic Violence Against Women

BACKGROUND: There is growing recognition of the health sector's potential role in addressing domestic violence (DV) against women. Although Brazil has a comprehensive policy framework on violence against women (VAW), implementation has been slow and incomplete in primary healthcare (PHC), and little is known about the implementation challenges. This paper aims to assess the readiness of two PHC clinics in urban Brazil to integrate an intervention to strengthen their DV response. METHODS: We conducted 20 semi-structured interviews with health managers and health providers; a document analysis of VAW and DV policies from São Paulo and Brazil; and 2 structured facility observations. Data were analysed using thematic analysis. RESULTS: Findings from our readiness assessment revealed gaps in both current policy and practice needing to be addressed, particularly with regards to governance and leadership, health service organisation and health workforce. DV received less political recognition, being perceived as a lower priority compared to other health issues. Lack of clear guidance from the central and municipal levels emerged as a crucial factor that weakened DV policy implementation both by providers and managers. Furthermore, responses to DV lost visibility, as they were diluted within generic violence responses. The organizational structure of the PHC system in São Paulo, which prioritised the number of consultations and household visits as the main performance indicators, was an additional difficulty in legitimising healthcare providers' time to address DV. Individual-level challenges reported by providers included lack of time and knowledge of how to respond, as well as fears of dealing with DV. CONCLUSION: Assessing readiness is critical because it helps to evaluate what services and infrastructure are already in place, also identifying obstacles that may hinder adaptation and integration of an intervention to strengthen the response to DV before implementation

Plasminogen Binding Proteins and Plasmin Generation on the Surface of Leptospira

Leptospirosis is considered a neglected infectious disease of human and veterinary concern. Although extensive investigations on host-pathogen interactions have been pursued by several research groups, mechanisms of infection, invasion and persistence of pathogenic Leptospira spp. remain to be elucidated. We have reported the ability of leptospires to bind human plasminogen (PLG) and to generate enzimatically active plasmin (PLA) on the bacteria surface. PLA-coated Leptospira can degrade immobilized ECM molecules, an activity with implications in host tissue penetration. Moreover, we have identified and characterized several proteins that may act as PLG-binding receptors, each of them competent to generate active plasmin. The PLA activity associated to the outer surface of Leptospira could hamper the host immune attack by conferring the bacteria some benefit during infection. The PLA-coated leptospires obstruct complement C3b and IgG depositions on the bacterial surface, most probably through degradation. The decrease of leptospiral opsonization might be an important aspect of the immune evasion strategy. We believe that the presence of PLA on the leptospiral surface may (i) facilitate host tissue penetration, (ii) help the bacteria to evade the immune system and, as a consequence, (iii) permit Leptospira to reach secondary sites of infection

Separating Agent-Functioning and Inter-Agent Coordination by Activated Modules: The DECOMAS Architecture

The embedding of self-organizing inter-agent processes in distributed software applications enables the decentralized coordination system elements, solely based on concerted, localized interactions. The separation and encapsulation of the activities that are conceptually related to the coordination, is a crucial concern for systematic development practices in order to prepare the reuse and systematic integration of coordination processes in software systems. Here, we discuss a programming model that is based on the externalization of processes prescriptions and their embedding in Multi-Agent Systems (MAS). One fundamental design concern for a corresponding execution middleware is the minimal-invasive augmentation of the activities that affect coordination. This design challenge is approached by the activation of agent modules. Modules are converted to software elements that reason about and modify their host agent. We discuss and formalize this extension within the context of a generic coordination architecture and exemplify the proposed programming model with the decentralized management of (web) service infrastructures

Large volume leukapheresis for autologous peripheral blood stem cell collection in children weighting less than 25 kg

Universidade Federal de São Paulo, GRAACC, Pediat Oncol Inst, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pathol, São Paulo, BrazilUniversidade Federal de São Paulo, GRAACC, Pediat Oncol Inst, São Paulo, BrazilUniversidade Federal de São Paulo, Dept Pathol, São Paulo, BrazilWeb of Scienc

Teoría de situaciones didácticas gamificadas: un esquema detallado en la enseñanza de la secuencia de Padovan

Este trabalho possui o objetivo de apresentar uma sistematização de saberes para uma possível aplicação da gamificação no ensino da Matemática, fundamentado nas etapas do percurso metodológico da Teoria das Situações Didáticas (TSD) como metodologia de ensino. Para tanto, utilizou-se como base de metodologia de pesquisa as duas fases iniciais da Engenharia Didática (ED), referentes às análises preliminares e a priori. Ademais, usou-se como exemplo o assunto específico da extensão da sequência de Padovan para índice inteiro não positivo, com o enfoque em alunos no nível de graduação. Nesse sentido, o ponto central do trabalho não direciona-se para uma análise dos dados de uma aplicação em si, mas da demarcação de elementos representativos que pleiteiam uma sistematização e acumulação de saberes teóricos/científicos, para a formulação de uma proposta didática e metodológica no ensino da Matemática com a interação das estratégias de gamificação, TSD e ED.The aim of this study is to create a systematisation of knowledge for the possible application of gamification in the teaching of Mathematics, based on the Theory of Didactical Situations (TDS) as a teaching methodology. The preliminary and a priori analysis phases of Didactical Engineering (DE) are used as the basis for the research methodology, taking as a case study the teaching to students at undergraduate level of the extension of the Padovan sequence to a non-positive whole index. The main objective of the research is not, therefore, to analyse the data of the application itself, but to identify the theoretical/scientific knowledge elements that require systematisation and accumulation, in order to formulate a didactic and methodological proposal for the teaching of mathematics that combines gamification strategies, TDS and DE

The GO-DACT protocol : a multicentre, randomized, double-blind, parallel-group study to compare the efficacy of golimumab in combination with methotrexate (MTX) versus MTX monotherapy

© 2001-2020 Sociedade Portuguesa de ReumatologiaThe GO-DACT is an investigator-initiated, national, multicentric randomized placebo-controlled double-blinded trial, that assesses dactylitis as primary endpoint. Psoriatic arthritis patients naïve to methotrexate and biologic disease modifying anti-rheumatic drugs, with at least one active dactylitis, were assigned to golimumab in combination with methotrexate or placebo in combination with methotrexate, for 24 weeks. Both clinical (dactylitis severity score and the Leeds dactylitis index) and imaging (high resolution magnetic resonance imaging), among others, were assessed as outcomes. The main objective of GO-DACT is to provide evidence to improve the treatment algorithm and care of psoriatic arthritis patients with active dactylitis. In this manuscript we describe the GO-DACT protocol and general concepts of the methodology of this trial.info:eu-repo/semantics/publishedVersio