Parallel independent evolution of pathogenicity within the genus Yersinia

Peer reviewe

Inquérito Alimentar Nacional e de Atividade Física, IAN-AF 2015-2016: relatório de resultados

Consórcio: Faculdade de Medicina da Universidade do Porto (Carla Lopes, Milton Severo, Andreia Oliveira); Instituto de Saúde Publica da Universidade do Porto (Elisabete Ramos, Sofia Vilela); Faculdade de Ciências da Nutrição e Alimentação da Universidade do Porto (Duarte Torres, Sara Rodrigues); Instituto Nacional de Saúde Doutor Ricardo Jorge (Sofia Guiomar, Luísa Oliveira);: AIDFM - Faculdade de Medicina da Universidade de Lisboa (Paulo Nicola, Violeta Alarcão); Faculdade de Desporto da Universidade do Porto (Jorge Mota) Faculdade de Motricidade Humana da Universidade de Lisboa (Pedro J. Teixeira); SilicoLife (Simão Soares); Faculdade de Medicina da Universidade de Oslo, Noruega (Lene Andersen)Este relatório foi realizado com informação recolhida no âmbito do Inquérito Alimentar Nacional e de Atividade Física (IAN-AF 2015-2016), desenvolvido por um Consórcio que tem como Promotor a Universidade do Porto. O IAN-AF recebeu financiamento do Espaço Económico Europeu concedido pela Islândia, Liechtenstein e Noruega através do Programa EEA Grants - Iniciativas de Saúde Pública, área dos Sistemas de Informação em Saúde (PT06 - 000088SI3). O IAN-AF teve o apoio institucional da Direção-Geral da Saúde, da Administração Central do Sistema de Saúde, das Administrações Regionais de Saúde, das Secretarias Regionais de Saúde dos Açores e da Madeira e da Autoridade Europeia para a Segurança dos Alimentos.O IAN-AF foi financiado pelo Programa Iniciativas em Saúde Pública, EEA-Grants. Este programa resulta do Memorando de Entendimento celebrado entre o Estado português e os países doadores (Islândia, Liechtenstein e Noruega) do Mecanismo Financeiro do Espaço Europeu.info:eu-repo/semantics/publishedVersio

Health, wellbeing and nutrition: Domain report

The escalation of global political, economic and ecological crises and associated price surges has contributed to interdependent forms of malnutrition – undernutrition, overweight and obesity – with enduring societal consequences. This study investigates the factors influencing the adoption of healthy diets in five African cities – Bukavu, DRC, Freetown, Sierra Leone, Kampala, Uganda, Lilongwe, Malawi and Nairobi, Kenya. It explores the engagement of policymakers, consumers, private actors and further stakeholders in food and health systems. Across all cities, rising food insecurity and the prevalence of non-communicable diseases (NCDs) linked to unhealthy dietary patterns, notably around consumption of ultra-processed foods, are observed. Despite urban residents generally experiencing lower food insecurity than rural counterparts, people with low incomes, particularly those living in informal settlements, remain vulnerable. Additional axes of vulnerability that intersect with low incomes are gender, age, disability and migrant/refugee status. Socioeconomic drivers that exacerbate food and nutrition insecurity include the high cost of nutritious diets, inadequate market, road, water and sanitation infrastructures, and the proliferation of unhealthy processed foods. Policy responses predominantly prioritise food quantity over quality, overlooking the importance of healthy diets. Additionally, profit-driven dynamics, within food and healthcare systems, and inconsistent resident knowledge of healthy, balanced diets, perpetuate the cycle of ill-health driven by poor nutrition, while informal food vendors, vital for low-income urbanites, face neglect or harassment. However, city governments possess avenues for intervention, such as awareness campaigns, social security mechanisms, and social and technical infrastructure support for water and sanitation, markets and street vendors. Primary healthcare services and community health workers play crucial roles in addressing malnutrition, youth development and adolescent health. Multisectoral collaboration is advocated for broadening the impact of strategic interventions from neighbourhood to city level. Reform efforts necessitate broad coalitions, encompassing governments, civil society and the private sector

Genome sequence of the tsetse fly (Glossina morsitans):Vector of African trypanosomiasis

Tsetse flies are the sole vectors of human African trypanosomiasis throughout sub-Saharan Africa. Both sexes of adult tsetse feed exclusively on blood and contribute to disease transmission. Notable differences between tsetse and other disease vectors include obligate microbial symbioses, viviparous reproduction, and lactation. Here, we describe the sequence and annotation of the 366-megabase Glossina morsitans morsitans genome. Analysis of the genome and the 12,308 predicted protein-encoding genes led to multiple discoveries, including chromosomal integrations of bacterial (Wolbachia) genome sequences, a family of lactation-specific proteins, reduced complement of host pathogen recognition proteins, and reduced olfaction/chemosensory associated genes. These genome data provide a foundation for research into trypanosomiasis prevention and yield important insights with broad implications for multiple aspects of tsetse biology.IS

Identification of a BRCA2-Specific modifier locus at 6p24 related to breast cancer risk

Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). To comprehensively identify breast cancer risk modifying loci for BRCA2 mutation carriers, we conducted a deep replication of an ongoing GWAS discovery study. Using the ranked P-values of the breast cancer associations with the imputed genotype of 1.4 M SNPs, 19,029 SNPs were selected and designed for inclusion on a custom Illumina array that included a total of 211,155 SNPs as part of a multi-consortial project. DNA samples from 3,881 breast cancer affected and 4,330 unaffected BRCA2 mutation carriers from 47 studies belonging to the Consortium of Investigators of Modifiers of BRCA1/2 were genotyped and available for analysis. We replicated previously reported breast cancer susceptibility alleles in these BRCA2 mutation carriers and for several regions (including FGFR2, MAP3K1, CDKN2A/B, and PTHLH) identified SNPs that have stronger evidence of association than those previously published. We also identified a novel susceptibility allele at 6p24 that was inversely associated with risk in BRCA2 mutation carriers (rs9348512; per allele HR = 0.85, 95% CI 0.80-0.90, P = 3.9×10−8). This SNP was not associated with breast cancer risk either in the general population or in BRCA1 mutation carriers. The locus lies within a region containing TFAP2A, which encodes a transcriptional activation protein that interacts with several tumor suppressor genes. This report identifies the first breast cancer risk locus specific to a BRCA2 mutation background. This comprehensive update of novel and previously reported breast cancer susceptibility loci contributes to the establishment of a panel of SNPs that modify breast cancer risk in BRCA2 mutation carriers. This panel may have clinical utility for women with BRCA2 mutations weighing options for medical prevention of breast cancer

An original phylogenetic approach identified mitochondrial haplogroup T1a1 as inversely associated with breast cancer risk in BRCA2 mutation carriers

Introduction: Individuals carrying pathogenic mutations in the BRCA1 and BRCA2 genes have a high lifetime risk of breast cancer. BRCA1 and BRCA2 are involved in DNA double-strand break repair, DNA alterations that can be caused by exposure to reactive oxygen species, a main source of which are mitochondria. Mitochondrial genome variations affect electron transport chain efficiency and reactive oxygen species production. Individuals with different mitochondrial haplogroups differ in their metabolism and sensitivity to oxidative stress. Variability in mitochondrial genetic background can alter reactive oxygen species production, leading to cancer risk. In the present study, we tested the hypothesis that mitochondrial haplogroups modify breast cancer risk in BRCA1/2 mutation carriers. Methods: We genotyped 22,214 (11,421 affected, 10,793 unaffected) mutation carriers belonging to the Consortium of Investigators of Modifiers of BRCA1/2 for 129 mitochondrial polymorphisms using the iCOGS array. Haplogroup inference and association detection were performed using a phylogenetic approach. ALTree was applied to explore the reference mitochondrial evolutionary tree and detect subclades enriched in affected or unaffected individuals. Results: We discovered that subclade T1a1 was depleted in affected BRCA2 mutation carriers compared with the rest of clade T (hazard ratio (HR) = 0.55; 95% confidence interval (CI), 0.34 to 0.88; P = 0.01). Compared with the most frequent haplogroup in the general population (that is, H and T clades), the T1a1 haplogroup has a HR of 0.62 (95% CI, 0.40 to 0.95; P = 0.03). We also identified three potential susceptibility loci, including G13708A/rs28359178, which has demonstrated an inverse association with familial breast cancer risk. Conclusions: This study illustrates how original approaches such as the phylogeny-based method we used can empower classical molecular epidemiological studies aimed at identifying association or risk modification effects.Peer reviewe

Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associat

Networks and Coordination in Water Politics and Governance

The Handbook in which the chapter is embedded provides a global perspective on the current issues affecting water politics and governance. Focusing in particular on the policy-making process and the power dynamics that it involves, it showcases the emerging diversity of objectives, instruments and governance approaches in the field of water resources. This chapter focuses on networks and coordination as this provides useful analytical insights for understanding the governance and politics of water resources. Accordingly, this chapter presents conceptual, theoretical and methodological tools to study networks and coordination in the governance of water resources. It thereby summarizes ideas from the most recent literature on networks involving multiple actors as well as other types of nodes relevant to water resource governance and politics

From third party to significant other for service encounters: a systematic review on third-party roles and their implications

Purpose Dyadic interactions between customers and service providers rarely occur in isolation. Still, there is a lack of systematic knowledge about the roles that different types of nontechnological third parties – that is, other customers, pets, other employees and other firms – can adopt in relation to customers and service providers during encounters. The present study aims to unravel these roles and highlight their implications for customers, service providers and/or third parties. Design/methodology/approach This research relies on a systematic review of literature in the Web of Science using a search string pertaining to the research study’s objectives. In total, 2,726 articles were screened by title and abstract using clear inclusion and exclusion criteria, thereby extracting 189 articles for full-text eligibility. The final sample consisted of 139 articles for coding and analysis. Findings The analyses reveal that other customers, pets, other employees and other firms can adopt five roles: bystander, connector, endorser, balancer and partner. Each role has different implications for customers, service providers and/or third parties. Additionally, the five roles are associated with distinct constellations of the customer, the service provider and the third party. These roles and constellations are dynamic and not mutually exclusive. Originality/value This research contributes to the service encounter literature by providing a thorough understanding of the various third-party roles and their implications for customers, service providers and/or third parties during encounters. As such, this research sheds light on the conditions under which third parties become “significant others” in service encounters and identifies avenues for future research