IMPACTO DE UM PROGRAMA PERSONALIZADO DE ACOMPANHAMENTO E PRESCRIÇÃO DE EXERCÍCIO FÍSICO NO CONTEXTO DE REABILITAÇÃO CARDÍACA NO PERÍODO INICIAL DA FASE III

Os Programas de Reabilitação Cardíaca (PCR) são uma forma eficaz de prevenção secundária, e apesar da sua centralização geográfica em grandes centros populacionais, várias têm sido as iniciativas para aumentar o acesso a estes programas dado o papel preponderante dos mesmos nos resultados individuais nos doentes que integram os PRC, mas também globalmente em ganhos de saúde. Atendendo que a adesão e manutenção nos PRC fase III é um dos grandes desafios que obrigam a uma política integrada de continuação de cuidados, importa canalizar sinergias de forma que a equipa multidisciplinar consiga motivar para a adesão aos programas que ocorrem fora do ambiente hospitalar. Uma das estratégias que se apresentam como promissoras é a aplicação de um programas de treino físico estruturado (integrado no programa fase III e seguido nos cuidados de saúde primários), que seja individualizado, que conte com o apoio clínico da equipa de saúde comunitária. Neste trabalho são apresentados os resultados de um estudo de caso com intervenção que tem como objetivo principal fazer o acompanhamento de um conjunto de doentes integrados no PRC do Centro Hospitalar de Leiria (CHL) no início da Fase III, bem como, perceber o impacto da realização de adaptação das recomendações da prescrição em função do perfil e desempenho ao longo do programa, com o intuito de otimizar os resultados do PRC. Os resultados indicam que os voluntários alcançaram melhorias da condição física geral e melhoraram a saúde mental, sendo estes resultados consequentes com as mudanças comportamentais que ocorreram e que se traduziram em ganhos biopsicossociais. Os resultados aqui apresentados vão ao encontro da literatura que preconiza uma prescrição de exercício individualizado e um acompanhamento próximo do programa por parte de profissionais do exercício (integrados na equipa de saúde comunitária) como ferramenta para melhorar a adesão e consequentemente os ganhos em saúde e qualidade de vida para os doentes em PRC

Historical food-web changes in invaded fish communities in the lower Guadiana basin

Freshwater ecosystems are increasingly being reshaped by biological invasions, leading to biotic homogenization and biodiversity loss. However, the extent to which novel species may drive changes in food-web structure over time remains poorly understood. Clarifying changes in historical ecological processes is critical to inform conservation and restoration efforts in recipient ecosystems. Here, we address food-web changes associated with fish invasions in the Lower Guadiana Basin (LGB) over the past 40 years, by contrasting feeding relationships between museum-archived and contemporary specimens, using stable carbon (δ13C) and nitrogen (δ15N) ratios. Specifically, trophic niches of museum-archived fishes sampled throughout 1978–1987 and 1999–2004 corresponding to the initial establishment and spread of non-native fishes, respectively, were compared with those of fishes sampled in 2019, characterizing the integration of non-native species in the recipient ecosystem. We focused on five native species (Anaecypris hispanica, Cobitis paludica, Iberochondrostoma lemmingii, Squalius pyrenaicus and Squalius alburnoides) and four non-native species (Lepomis gibbosus, Australo heros facetus, Micropterus salmoides and Gambusia holbrooki) with potential to cover multiple trophic positions in the food-webs. We approached historical baseline resources using prey items in gut con tents of the museum-archived fishes and characterized primary producers and macroinvertebrates in 2019. Prior to analysis, samples were normalized for high lipid content and corrected for preservation. We found considerable asymmetries in niche partitioning among species as invasion progressed. Over time, native species tended to be displaced to lower trophic levels, while non-native species showed significantly higher trophic niches, driven mainly by increases in trophic (δ15N) range. Our study highlights that stable isotopes may provide important insights on historical food-web structure and particularly on processes underpinning ecological changes associated with anthropogenetic pressures on freshwater ecosystems.info:eu-repo/semantics/publishedVersio

CEILÂNDIA NOS TRILHOS DA SEGREGAÇÃO: AS CONSEQUÊNCIAS SOCIOESPACIAIS GERADAS A PARTIR DA APROPRIAÇÃO DO METRÔ PELO CAPITAL IMOBILIÁRIO

The constant transformations of a globalized society, aligned with the power with which the capital is articulated and provokes socio-spatial segregation, challenge researchers and geographers to analyze the performance of the real estate capital in a territory that has been marked by segregation since its making. In light of this fact, this paper proposes, by means of an exploratory, interpretative and qualitative research, to analyze the action of the real estate capital in the proximal areas of the railway lines of the administrative Region of Ceilândia – DF. The results point to the need for a more active social participation in the process of developing public housing policies so as to reduce or balance the role of real estate capital in the territoryAs constantes transformações de uma sociedade globalizada e o poder com que o capital se articula e provoca a segregação socioespacial promovem, como desafi o para pesquisadores e geógrafos, a análise da atuação do capital imobiliário em um território que já nasce com a segregação em seu histórico. Assim, o presente trabalho propõe, por meio de uma pesquisa do tipo qualitativa, de nível exploratório e interpretativo, analisar a atuação do capital imobiliário nas áreas proximais das linhas férreas do metrô da Região Administrativa de Ceilândia – DF. Como resposta, identifi cou-se a necessidade da participação social mais ativa quanto ao processo de elaboração de políticas públicas habitacionais, a fi m de reduzir ou equilibrar a atuação do capital imobiliário no território

Metabolic Diseases Masquerading As Primary Progressive Multiple Sclerosis

Objectives: The overall aim of our research project is to develop a Next Generation Sequencing strategy to identify metabolic disorders in patients with a presumptive diagnosis of primary progressive MS.This Research Project is support by MERCK, SAinfo:eu-repo/semantics/draf

Molecular characterization of a novel splicing mutation underlying mucopolysaccharidosis (MPS) type VI-Indirect proof of principle on its pathogenicity

Here, we present the molecular diagnosis of a patient with a general clinical suspicion of Mucopolysaccharidosis, highlighting the different tools used to perform its molecular characterization. In order to decrease the turnaround time for the final report and contribute to reduce the "diagnostic odyssey", which frequently afflicts affected families, the proband's sample was simultaneously screened for mutations in a number of lysosomal function-related genes with targeted next-generation sequencing (NGS) protocol. After variant calling, the most probable cause for disease was a novel ARSB intronic variant, c.1213+5G>T [IVS6+5G>T], detected in homozygosity. In general, homozygous or compound heterozygous mutations in the ARSB gene, underlie MPS type VI or Maroteaux-Lamy syndrome. Still, even though the novel c.1213+5G>T variant was easy to detect by both NGS and Sanger sequencing, only through indirect studies and functional analyses could we present proof of principle on its pathogenicity. Globally, this case reminds us that whenever a novel variant is detected, its pathogenicity must be carefully assessed before a definitive diagnosis is established, while highlighting alternative approaches that may be used to assess its effect in the absence RNA/cDNA sample(s) from the proband. This is particularly relevant for intronic variants such as the one here reported. Special attention will be given to the use of reporter minigene systems, which may be constructed/designed to dissect the effect of this sort of alterations, providing an insight into their consequences over the normal pre-mRNA splicing process of the affected gene.This work was partially supported by the Fundação Millennium bcp (bcp/LIM/DGH/2014), N2020 (NORTE‐01‐0246‐FEDER‐000014) and Fundação para a Ciência e Tecnologia (FCT) IP (project: PTDC/SAU‐ GMG/117046/2010). M.F.C. and J.I.S. were grantees from the FCT (SFRH/BPD/101965/2014; SFRH/BD/124372/2016).info:eu-repo/semantics/publishedVersio

The disease modelling value of baby teeth: A new way to unlock knowledge about a special group of genetic disorders

Mucopolysaccharidoses (MPS), are a group of genetic, metabolic, and rare diseases investigated since the early years of the 20th century. One of the first steps to collect information about the underlying mechanisms of those disorders is the development and analysis of in vitro models. Furthermore, those models provide an appropriate platform for the evaluation of future therapeutics. Among all the possible disease cell models, patient-derived ones are those which allow us to get better disease insights. However, finding the best cell type that recapitulates diseaserelevant features is not always easy: two systems largely involved in MPS pathology are the brain and the musculoskeletal ones, which reflects an issue once both are hard to access. Here, our main goal is to establish an innovative non-invasive method to generate disease-relevant cell models from stem cells from deciduous (baby) teeth (SHED), which may then be differentiated into our MPS-target cell lines. So far, we have already implemented and optimized the protocol for collection, isolation, establishment and cryopreservation of those stem cells. Then, our rationale is simple: for those obtained from MPS patients suffering from multisystemic disease with marked musculoskeletal alterations, we are using a chondrogenesis differentiation protocol. For those derived from patients with neurological pathology, we will establish mixed neuronal/glial cultures. As soon as we can get the SHED-derived differentiated cells, various cellular and molecular processes from our target disorders may be unveiled and used as a target for possible future therapeutics. Acknowledgements This work is partially supported by the Portuguese Society for Metabolic Disorders (SPDM - Bolsa SPDM de apoio à investigação Dr. Aguinaldo Cabral 2018;2019DGH1629/SPDM2018I&D), Sanfilippo Children's Foundation (2019DGH1656/SCF2019I&D) and FCT (EXPL/BTM-SAL/0659/2021).This work is partially supported by the Portuguese Society for Metabolic Disorders (SPDM - Bolsa SPDM de apoio à investigação Dr. Aguinaldo Cabral 2018;2019DGH1629/SPDM2018I&D), Sanfilippo Children's Foundation (2019DGH1656/SCF2019I&D) and FCT (EXPL/BTM-SAL/0659/2021),N/

Perfil clínico das gestantes com síndromes hipertensivas atendidas no CAIS da Mulher em Anápolis-GO

As síndromes hipertensivas na gestação são classificadas em quatro categorias: pré-eclâmpsia/eclâmpsia, hipertensão arterial crônica, hipertensão arterial crônica com pré-eclâmpsia superajuntada e hipertensão gestacional. As crises hipertensivas são caracterizadas por um aumento acentuado da pressão arterial, que pode acarretar, para a gestante e o feto, complicações graves e até levar ao óbito. Este estudo tem como objetivo descrever o perfil clínico de gestantes com síndromes hipertensivas, além de identificar a ocorrência de complicações obstétricas decorrentes. Trata-se de um estudo observacional transversal analítico. Será realizado no município de Anápolis - Goiás por meio de coleta dos dados com aplicação de questionários, em uma população de 46 gestantes, entre o período de agosto a dezembro de 2023. As características sociodemográficas avaliadas serão: faixa etária; etnia; nível de escolaridade; renda familiar; estado marital; profissão. As variáveis clínico-epidemiológicas serão: medidas da pressão arterial; número de gestações; idade gestacional; comorbidades. Espera-se relatar o perfil das gestantes com síndromes hipertensivas, bem como as complicações obstétricas relacionadas. Dessa maneira, identificar a prevalência e as variáveis clínicas mais recorrentes das pacientes avaliadas no CAIS da Mulher no município de Anápolis – GO. Portanto, com o presente estudo espera-se contribuir para o arcabouço literário do tema abordado e enfatizar que é fundamental ampliar a compreensão do fenômeno estudado, a fim de prevenir os agravos decorrentes das síndromes hipertensivas na gravidez

A Cross-Sectional Survey-Based Study of Medical Oncologists

Funding Information: We would like to thank Andrea Bothwell who wrote the manuscript outline and first draft on behalf of Springer Healthcare Communications. We also thank Prof. Carina Silva (ESTEsL – Escola Superior de Tecnologias de Saúde de Lisboa) who performed the preliminary statistical analysis of this study. This medical writing assistance and statistical analysis was funded by CUF Oncologia. Funding Information: Diogo Alpuim Costa has received honoraria from the Portuguese Navy, CUF Oncologia, and NTT DATA, and has served as a speaker, advisory board member, or has received research or education funding from CUF Oncologia, AstraZeneca, Hoffmann-La Roche, Merck KGaA, Novartis, Pfizer, Uriage, Daiichi Sankyo, Gilead, Merck Sharp & Dohme, Nanobiotix, Puma Biotechnology Inc., Sanofi, and Seagen Inc. Margarida Brito has participated as advisory board member for Roche, Novartis, Merck Sharp & Dohme, and Pfizer. Mário Fontes-Sousa has served as a speaker or advisory board member for Bristol Myers Squibb, Daiichi Sankyo, Gilead, Lilly, Merck Sharp & Dohme, Novartis, Pfizer, Roche, and Servier. Diogo Martins-Branco received honoraria and advisory board fees from Janssen, Pfizer, Merck Sharp & Dohme, Angelini, AstraZeneca, and Novartis, meeting and travel grants from LEO Farmacêuticos, Merck Sharp & Dohme, Ipsen, Janssen, and Roche, and institutional grants from F. Hoffmann-La Roche Ltd. José Guilherme Gonçalves Nobre, João Paulo Fernandes, Marta Vaz Batista, Ana Simas, Carolina Sales, Helena Gouveia, Leonor Abreu Ribeiro, Andreia Coelho, Mariana Inácio, André Cruz, Mónica Mariano, Joana Savva-Bordalo, Ricardo Fernandes, André Oliveira, Andreia Chaves, Mafalda Sampaio-Alves, and Noémia Afonso have nothing to declare. Publisher Copyright: © 2022, The Author(s).Introduction: Cancer care providers have faced many challenges in delivering safe care for patients during the COVID-19 pandemic. This cross-sectional survey-based study investigated the impact of the pandemic on clinical practices of Portuguese medical oncologists caring for patients with breast cancer. Methods: An anonymous online survey comprising 42 questions gathered information regarding COVID-19 testing, treatment in (neo)adjuvant and metastatic settings, and other aspects of breast cancer management. Practices before and during the pandemic were compared, and potential differences in outcomes according to respondents’ regions, case volumes, and practice type were explored. Results: Of 129 respondents, 108 worked in the public health system, giving a representative national picture of the impact of the COVID-19 pandemic on breast cancer management. Seventy-one percent of respondents reported a reduction in visits for new cases of breast cancer, and there was a shift towards increased use of telemedicine. Clinical decision-making was largely unaffected in the most aggressive indications (i.e., triple-negative, HER2-positive, visceral crisis). The use of neoadjuvant therapy increased when access to surgery was difficult, whereas dose-dense regimens decreased, and cyclin-dependent kinase 4/6 inhibitor treatment decreased for less aggressive disease and increased for more aggressive disease. The use of oral formulations and metronomic chemotherapy regimens increased, and clinical trial participation decreased. Some differences by respondents’ region and case volume were noted. Conclusion: Medical oncologists in Portugal implemented many changes during the COVID-19 pandemic, most of which were logical and reasonable responses to the current healthcare emergency; however, the true impact on patient outcomes remains unknown.publishersversionepub_ahead_of_prin

Correlation between fear of falling, eye-segmental coordination and dynamic balance in the elderly

Falls are well documented as being a major cause of accidental injury and deaths worldwide, especially among the elderly, with a higher probability of occurrence in the population over 60 years of age (WHO, 2021). Falls are preventable, but the consequences of falls can lead to injuries and may result in loss of independence. Decreased overall motor skills of the elderly, such as muscle strength, power, flexibility, agility, and endurance, cause walking difficulty (Spirduzo et al., 2005; Jeon M-Y, Choe M, 2002; Salzman, 2010), nevertheless, physical activity and exercise can contribute to maintaining the quality of life, health, physical function and reducing falls among older people (Gillespie et al., 2012; Tricco et al., 2017). Thus, the present study aims to analyse the association between fear of falling, eye-segmental coordination and dynamic balance in participants in a physical exercise program for the elderly. The sample consisted of 103 individuals (22 men and 81 women) with a mean age of 71.3 (±5.9) years, participants of a gerontomotricity municipal program from 5 different locations in the central region of Portugal. Wall Drop Punt Kick and Catch test was used to assess eye-segmental coordination, the Foot Up and Go test was used to assess dynamic balance, and the Falls Efficacy Scale International questionnaire was used to assess the fear of falling. Results confirm that higher levels of eye-segmental coordination are correlated both with dynamic balance and the fear of falling (r = - 0.39, p 0.05). With this study, it could be confirmed that higher levels of fear of falling in the older population are related to lower levels of eye-segmental coordination and lower levels of dynamic balance, emphasising the need to maintain or adopt active lifestyles that promote the development or at least, avoid the decrease of human motor skills performance