New insights in myeloid malignancies: application of massive genomics approaches for diagnosis and monitoring

Tesis doctoral inédita leída en la Universidad Atónoma de Madrid, Facultad de Medicina, Departamento de Bioquímica. Fecha de lectura: 21 de Octubre de 2013

PROS1 novel splice-site variant decreases protein S expression in patients from two families with thrombotic disease

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PRODUTIVIDADE ATRAVÉS DE CADEIA DE SUPRIMENTOS

Recentemente à gestão da cadeia de suprimentos se tornou uma estratégia para as organizações enfrentarem a crescente coação de um mercado cada vez mais competitivo dentro de uma indústria cada vez mais globalizada. Com isto, um conjunto de conceitos que eram adotados para melhorar a competitividade individualmente, começou à ser visto de forma diferente na melhoria da cadeia de suprimentos, onde passou à se ver as mudanças necessárias que deveriam ocorrer nas indústrias. Destaca-se a gestão da qualidade que busca como a gestão da cadeia de suprimentos a melhoria e eficiência em uma determinada organização. Com isso a proposta desse artigo é compreender sob revisão bibliográfica, os mecanismos de integração entre os conceitos de gestão da cadeia e suprimentos e de gestão da qualidade. Visa contribuir para que essas gestões tenham maior importância, já que são poucos os estudos que tratam estes conceitos de forma conjunta. Para esta análise, o artigo considera as diversas abordagens e definições concluindo que a integração de ambas as atividades das gestões se faz necessário para a obtenção da excelência na indústria

Experimental supporting data on DIS3L2 over nonsense-mediated mRNA decay targets in human cells

In this article, we present supportive data related to the research article “A role for DIS3L2 over natural nonsense-mediated mRNA decay targets in human cells” [1], where interpretation of the data presented here is available. Indeed, here we analyze the impact of the DIS3L2 exoribonuclease over nonsense-mediated mRNA decay (NMD)-targets. Specifically, we present data on: a) the expression of various reporter human β-globin mRNAs, monitored by Northern blot and RT-qPCR, before and after altering DIS3L2 levels in HeLa cells, and b) the gene expression levels of deregulated transcripts generated by re-analyzing publicly available data from UPF1-depleted HeLa cells that were further cross-referenced with a dataset of transcripts upregulated in DIS3L2-depleted cells. These analyses revealed that DIS3L2 regulates the levels of a subset of NMD-targets. These data can be valuable for researchers interested in the NMD mechanism.This work was partially supported by Fundação para a Ciencia e a Tecnologia (FCT) (PTFC/BIM-MEC/3749/2014 to LR and UID/MULTI/04046/2013 to BioISI). PJdC, HAS and JFG-M are recipients of a fellowship from BioSys PhD programme (SFRH/BD/52495/2014, SFRH/BD/52492/2014, and PD/BD/ 142898/2018, respectively) and JM is a postdoctoral fellow (SFRH/BPD/98360/2013) from FCT. Work at ITQB-NOVA was financially supported by: Project LISBOA-01-0145-FEDER-007660 funded by the European Regional Development Fund (FEDER) through COMPETE2020 - Programa Operacional Competitividade e Internacionalização (POCI) and by FCT funds: PTDC/BIA-MIC/1399/2014 to CMA and PTFC/BIM-MEC/3749/2014 to SCV. SCV was financed by program IF of FCT (IF/00217/2015). MS was financed by an FCT contract according to DL57/2016 [SFRH/BPD/109464/2015]info:eu-repo/semantics/publishedVersio

DOENÇA DE ALZHEIMER: UMA REVISÃO DE LITERATURA SOBRE OS CUIDADOS PALIATIVOS.

Em 2015, 46,8 milhões de pessoas no mundo tinham algum tipo de demência e esse número tende a subir devido à transição demográfica e epidemiológica. Com esse aumento, a doença de Alzheimer (DA), que é um processo crônico-degenerativo irreversível, também tende a elevar sua incidência, pois ela é a causa mais frequente de demência. Portanto, tal doença merece atenção, e como a mesma não possui cura, buscar qualidade de vida para os pacientes é a prioridade e os cuidados paliativos são uma alternativa importante. Sendo assim, faz-se necessário o desenvolvimento de pesquisas e aprofundamento dos conhecimentos sobre as formas de atenção aos portadores dessa demência. Logo, esse estudo visou discutir alguns dos cuidados paliativos não farmacológicos para a DA. Para tal, foi realizada uma revisão de literatura a partir de dados de vinte e dois artigos pesquisados em bancos de dados online utilizando os seguintes descritores: doença de Alzheimer, cuidados paliativos, reabilitação. A busca foi restrita a estudos populacionais, publicados nos últimos dez anos. Os resultados encontrados revelaram que os cuidados paliativos como atividade física, reabilitação neuropsicológica, musicoterapia e regulação do sono possibilitam minimizar os sintomas e trazer uma melhora no bem-estar para o paciente. Dessa forma, deve-se incentivar mais estudos sobre o tema, que possibilitem desenvolver e aplicar métodos que possam proporcionar melhor qualidade de vida para os portadores de DA

The steroid-hormone ecdysone coordinates parallel pupariation neuromotor and morphogenetic subprograms via epidermis-to-neuron Dilp8-Lgr3 signal induction

Funding Information: We thank Drs. Carlos Ribeiro, Christen Mirth, Elio Sucena, Filip Port, Frank Schnorrer, Julien Colombani, Maria Dominguez, Maria Luisa Vasconcelos, Pierre Leopold, Simon Bullock, Rita Teodoro, Gerald Rubin, Melissa Harrison, Kate O’Connor-Giles, Jill Wildonger, Mariana Melani, Pablo Wappner, and Christian Wegener for fly stocks and reagents. We thank Ryohei Yagi and Konrad Basler for the LHV2 plasmid and Brain McCabe for the mhc-Gateway destination plasmid. We thank Carlos Ribeiro and Dennis Goldschmidt for help in designing and constructing one of the pupariation arenas and Mariana Melani, Pablo Wappner, Arash Bashirullah, and Filip Port for sharing resources and unpublished data. We thank Arash Bashirullah, Fillip Port, and Carlos Ribeiro for discussions and/or comments on the manuscript, and Jim Truman for discussions on Fraenkel’s pupariation factors. Stocks obtained from the Bloomington Drosophila Stock Center (NIH P40OD018537) were used in this study. Work in the Integrative Biomedicine Laboratory was supported by the European Commission FP7 (PCIG13-GA-2013-618847), by the FCT (IF/00022/2012; Congento LISBOA-01-0145-FEDER-022170, cofinanced by FCT/Lisboa2020; UID/Multi/04462/2019; PTDC/BEXBCM/1370/2014; PTDC/MED-NEU/30753/2017; PTDC/BIA-BID/31071/2017; FCT SFRH/BPD/94112/ 2013; SFRH/BD/94931/2013), the MIT Portugal Program (MIT-EXPL/BIO/0097/2017), and FAPESP (16/09659-3, 16/10342-4, and 17/17904-0). AG is a CONICET researcher, YV holds a CONICET postdoctoral fellowship and FPS and MJD hold a PhD fellowship from CONICET. Work in the Garelli lab was supported by ANPCyT (Agencia Nacional para la Promoción de la Ciencia y la Tecnología, PICT 2014-2900 and PICT 2017-0254) and CONICET (PIP11220150100182CO). Publisher Copyright: © 2021, The Author(s). Copyright: Copyright 2021 Elsevier B.V., All rights reserved.Innate behaviors consist of a succession of genetically-hardwired motor and physiological subprograms that can be coupled to drastic morphogenetic changes. How these integrative responses are orchestrated is not completely understood. Here, we provide insight into these mechanisms by studying pupariation, a multi-step innate behavior of Drosophila larvae that is critical for survival during metamorphosis. We find that the steroid-hormone ecdysone triggers parallel pupariation neuromotor and morphogenetic subprograms, which include the induction of the relaxin-peptide hormone, Dilp8, in the epidermis. Dilp8 acts on six Lgr3-positive thoracic interneurons to couple both subprograms in time and to instruct neuromotor subprogram switching during behavior. Our work reveals that interorgan feedback gates progression between subunits of an innate behavior and points to an ancestral neuromodulatory function of relaxin signaling.publishersversionpublishe

Genomic epidemiology of SARS-CoV-2 in Esteio, Rio Grande do Sul, Brazil

Background: Brazil is the third country most affected by Coronavirus disease-2019 (COVID-19), but viral evolution in municipality resolution is still poorly understood in Brazil and it is crucial to understand the epidemiology of viral spread. We aimed to track molecular evolution and spread of Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in Esteio (Southern Brazil) using phylogenetics and phylodynamics inferences from 21 new genomes in global and regional context. Importantly, the case fatality rate (CFR) in Esteio (3.26%) is slightly higher compared to the Rio Grande do Sul (RS) state (2.56%) and the entire Brazil (2.74%). Results: We provided a comprehensive view of mutations from a representative sampling from May to October 2020, highlighting two frequent mutations in spike glycoprotein (D614G and V1176F), an emergent mutation (E484K) in spike Receptor Binding Domain (RBD) characteristic of the B.1.351 and P.1 lineages, and the adjacent replacement of 2 amino acids in Nucleocapsid phosphoprotein (R203K and G204R). E484K was found in two genomes from mid-October, which is the earliest description of this mutation in Southern Brazil. Lineages containing this substitution must be subject of intense surveillance due to its association with immune evasion. We also found two epidemiologicallyrelated clusters, including one from patients of the same neighborhood. Phylogenetics and phylodynamics analysis demonstrates multiple introductions of the Brazilian most prevalent lineages (B.1.1.33 and B.1.1.248) and the establishment of Brazilian lineages ignited from the Southeast to other Brazilian regions. Conclusions: Our data show the value of correlating clinical, epidemiological and genomic information for the understanding of viral evolution and its spatial distribution over time. This is of paramount importance to better inform policy making strategies to fight COVID-19