ASPECTOS GENÉTICOS DA DISTROFIA ENDOTELIAL DE FUCHS

Fuchs Endothelial Dystrophy (FED) is an inherited corneal disease characterized by progressive degeneration of the corneal endothelium, leading to edema and loss of visual function. Although the exact pathogenesis is not yet fully elucidated, increasing evidence suggests a significant genetic component in susceptibility to DEF. Previous studies have identified several genetic variants associated with the disease, highlighting the complexity of genetic inheritance and the possible interaction between different genetic and environmental factors. Objectives: Investigate the association between specific genetic variations and the predisposition to Fuchs Endothelial Dystrophy (FED), aiming to identify genetic markers that can contribute to early diagnosis and the development of new therapeutic strategies. Methodology: The research was carried out through online access to the National Library of Medicine (MEDLINE), Scientific Electronic Library Online (SCIELO), Latin American and Caribbean Literature in Health Sciences (LILACS) databases in June 2024. Results and Discussions:  Significant associations between specific genetic variants and predisposition to Fuchs Endothelial Dystrophy (FED). In particular, we identified that variants in genes related to the structure and function of the corneal endothelium, such as TCF4 and COL8A2, are strongly associated with the disease. These findings corroborate previous studies and suggest that the integrity of the corneal endothelium may be influenced by specific genetic alterations. Furthermore, analysis of genetic interactions revealed possible networks of genes that can modulate the FED phenotype, highlighting the genetic complexity underlying the disease. These interactions may provide important insights into the molecular mechanisms involved in the pathogenesis of DEF and guide the development of targeted therapies. Conclusion: In summary, this study highlights the importance of genetic variants, especially in genes such as TCF4 and COL8A2, in the predisposition to Fuchs Endothelial Dystrophy (FED). The identification of these genetic markers offers perspectives for the development of more accurate diagnostic strategies and potential targeted therapeutic targets.A Distrofia Endotelial de Fuchs (DEF) é uma doença corneana hereditária caracterizada pela degeneração progressiva do endotélio corneano, levando a edema e perda da função visual. Embora a patogênese exata ainda não esteja completamente elucidada, evidências crescentes sugerem um componente genético significativo na suscetibilidade à DEF. Estudos anteriores identificaram várias variantes genéticas associadas à doença, destacando a complexidade da herança genética e a possível interação entre diferentes fatores genéticos e ambientais. Objetivos: Investigar a associação entre variações genéticas específicas e a predisposição à Distrofia Endotelial de Fuchs (DEF), visando identificar marcadores genéticos que possam contribuir para o diagnóstico precoce e o desenvolvimento de novas estratégias terapêuticas. Metodologia: A pesquisa foi realizada através do acesso online nas bases de dados National Library of Medicine (MEDLINE), Scientific Electronic Library Online (SCIELO), Literatura Latino-Americana e do Caribe em Ciências da Saúde (LILACS) no mês de junho de 2024. Resultados e Discussões: Associações significativas entre variantes genéticas específicas e a predisposição à Distrofia Endotelial de Fuchs (DEF). Em particular, identificamos que variantes em genes relacionados à estrutura e função do endotélio corneano, como TCF4 e COL8A2, estão fortemente associadas com a doença. Essas descobertas corroboram estudos anteriores e sugerem que a integridade do endotélio corneano pode ser influenciada por alterações genéticas específicas. Além disso, a análise de interações genéticas revelou possíveis redes de genes que podem modular o fenótipo da DEF, destacando a complexidade genética subjacente à doença. Essas interações podem oferecer insights importantes sobre os mecanismos moleculares envolvidos na patogênese da DEF e orientar o desenvolvimento de terapias direcionadas. Conclusão: Em síntese, este estudo destaca a importância das variantes genéticas, especialmente em genes como TCF4 e COL8A2, na predisposição à Distrofia Endotelial de Fuchs (DEF). A identificação desses marcadores genéticos oferece perspectivas para o desenvolvimento de estratégias diagnósticas mais precisas e potenciais alvos terapêuticos direcionados

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear un derstanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5–7 vast areas of the tropics remain understudied.8–11 In the American tropics, Amazonia stands out as the world’s most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepre sented in biodiversity databases.13–15 To worsen this situation, human-induced modifications16,17 may elim inate pieces of the Amazon’s biodiversity puzzle before we can use them to understand how ecological com munities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple or ganism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region’s vulnerability to environmental change. 15%–18% of the most ne glected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lostinfo:eu-repo/semantics/publishedVersio

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

Pervasive gaps in Amazonian ecological research

Biodiversity loss is one of the main challenges of our time,1,2 and attempts to address it require a clear understanding of how ecological communities respond to environmental change across time and space.3,4 While the increasing availability of global databases on ecological communities has advanced our knowledge of biodiversity sensitivity to environmental changes,5,6,7 vast areas of the tropics remain understudied.8,9,10,11 In the American tropics, Amazonia stands out as the world's most diverse rainforest and the primary source of Neotropical biodiversity,12 but it remains among the least known forests in America and is often underrepresented in biodiversity databases.13,14,15 To worsen this situation, human-induced modifications16,17 may eliminate pieces of the Amazon's biodiversity puzzle before we can use them to understand how ecological communities are responding. To increase generalization and applicability of biodiversity knowledge,18,19 it is thus crucial to reduce biases in ecological research, particularly in regions projected to face the most pronounced environmental changes. We integrate ecological community metadata of 7,694 sampling sites for multiple organism groups in a machine learning model framework to map the research probability across the Brazilian Amazonia, while identifying the region's vulnerability to environmental change. 15%–18% of the most neglected areas in ecological research are expected to experience severe climate or land use changes by 2050. This means that unless we take immediate action, we will not be able to establish their current status, much less monitor how it is changing and what is being lost

Seminário de Dissertação (2024)

Página da disciplina de Seminário de Dissertação (MPPP, UFPE, 2022) Lista de participantes == https://docs.google.com/spreadsheets/d/1mrULe1y04yPxHUBaF50jhaM1OY8QYJ3zva4N4yvm198/edit#gid=

Characterisation of microbial attack on archaeological bone

As part of an EU funded project to investigate the factors influencing bone preservation in the archaeological record, more than 250 bones from 41 archaeological sites in five countries spanning four climatic regions were studied for diagenetic alteration. Sites were selected to cover a range of environmental conditions and archaeological contexts. Microscopic and physical (mercury intrusion porosimetry) analyses of these bones revealed that the majority (68%) had suffered microbial attack. Furthermore, significant differences were found between animal and human bone in both the state of preservation and the type of microbial attack present. These differences in preservation might result from differences in early taphonomy of the bones. © 2003 Elsevier Science Ltd. All rights reserved