Bioética em cuidados intensivos : um contributo

A espécie humana é agora confrontada com longevidade e realidades demográficas, que obrigam a percorrer um caminho novo, desconhecido. Do progresso científico em geral, da genética e da biotecnologia em particular irão surgir novos desafios bioéticos e civilizacionais. A medicina confronta-se já hoje com novos desafios. O desafio demográfico, os doentes são cada vez mais velhos, e com menor reserva fisiológica. O desafio epidemiológico, doentes portadores de várias doenças crónicas simultaneamente. O desafio tecnológico em que o avanço da capacidade técnico-científica quase permite mascarar a morte. É necessário individualizar em cada doente a opção de tratamento mais adequado, para evitar obstinação terapêutica. E o desafio bioético, que consiste em exercer e pensar a medicina respeitando cada vez mais a autonomia da pessoa doente.Os trabalhos efectuados permitiram objectivar que em Portugal, no período de 2000 a 2010, os doentes com mais de 75 anos de idade admitidos em cuidados intensivos quase duplicou.Permitiram também perceber que o respeito pela autonomia, particularmente do doente com doença crónica avançada, é um percurso que urge melhorar, nomeadamente na ponderação atempada da vontade do doente vir a ser admitido em cuidados intensivos na fase avançada das suas doenças. Por outro lado,a constatação que os profissionais de saúde não pretendem para si próprios serem admitidos em cuidados intensivos em caso de doença crónica avançada, nem efectuar terapêuticas de resgate em caso de doença oncológicaavançada, mas no entanto propõem estas intervenções aos doentes, é revelador da necessidade de melhorar a comunicação, para reforçar a confiança na relação médico-doente. Quando confrontados com situações clinicas reais, em decisões clinicas “life saving” os bioeticistas privilegiam sempre a autonomia da pessoa doente, excepto se se tratar de uma situação clínica que simultaneamente ameaça a vida e em que a capacidade de decisão do doente for questionável. Já os doentes e seus familiares mostraram uma tolerância selectiva a uma medicina mais paternalista, em caso de risco eminente de morte. Por último, a publicação do livro “Reanimar?”, pretendeu informar os cidadãos da realidade da Medicina Intensiva nos nossos dias, e quais as questões éticas associadasa esta especialidade médica. Essencialmente informar, para que as pessoas possam formar convicções.Acredito que a Medicina e os médicos saberão posicionar-se em defesa da vida, e aprender sempre a cuidar melhor. A Bioética continuará a ser um pilar fundamental nessa melhoria. Privilegiar a autonomia e o reforço da relação médico-doente serão os instrumentos desta mudança.The human species is now confronted with longevity and demographic realities which oblige us to pursue a new path, an unknown path. From scientific progress in general, as well as from genetics and particularly from biotechnology, new bioethical and civilizational challenges will arise.Medicine is confronted with new challenges at the present moment. The demographic challenge: patients are increasingly older and with a lesser physiological reserve. The epidemiologic challenge: patients carrying several chronic diseases simultaneously. The technological challenge: the significant advance of the technical and scientific capability which enables the masking of death; it is necessary to individualize, for each patient, the most appropriate treatment option to avoid therapeutic fixation. The bioethical challenge: to apply and think a medical practice which respects the patient’s autonomy. The studies accomplished show that in Portugal, between the years of 2000 and 2010, patients over 75 years of age admitted in intensive care units almost doubled. The studies also showed that the respect for the patient’s autonomy, particularly of the patient with advanced chronic disease, requires improvement, namely regarding the timely consideration of the patient’s will to eventually be admitted in intensive care at a more advanced stage of the illness. On the other hand, studies evidenced that healthcare professionals do not wish to be admitted for intensive care in case of advanced chronic disease, nor perform rescue therapies in case of advanced oncological disease, but nonetheless these healthcare professionals recommend these therapies and procedures to their patients. This makes clear that there is a significant necessity to improve communication and strengthen the trust in the doctor-patientrelationship.When confronted with real clinical situations, in clinical “life saving” decisions, bioethicists always give greater importance to the autonomy of the patient, except if the clinical situation is simultaneously life threatening and the patient’s ability to make a decision is questionable. The actual patients and their families showed a selective tolerance when it comes to a more paternalistic medicine, in cases of imminent risk of death. Lastly, the publishing of the book “Reanimar?” aimedto inform the general population about the reality of Intensive Medicine nowadays and what are the ethical questions associated to this medical specialty. Hopefully, to inform will enable the citizens to shape their own convictions.I believe that Medicine and doctors will know how to position themselves in a way that advocates for life and allows for continual learning and better caring. Bioethics will continue to be a fundamental pillar in this betterment. To attribute greater importance to the patient’s autonomy and the strengthening of the doctor-patient relationship will be the instruments of this change

Macro and microscopic maturation stage key of green crab (Carcinus maenas, Linnaeus 1758): reproductive cycle and differences among estuarine systems

Gonadal histology is a helpful tool to validate species' macroscopic maturity stages in fisheries biology. Regardless of the many studies on Carcinus maenas, there are still few concerning gonads tissue histology and description of maturity stages. In Portugal, information regarding this species' biology to help support the regulation of crab fisheries, including the minimum landing size, has not yet been defined. In this work, the macro and microscopic characteristics of the reproductive cycle of C. maenas, oogenesis, and spermatogenesis development stages along the Portuguese coast are described, and a new macroscopic scale based on the histological analyses is suggested. During 2019 and 2020, adult C. maenas (both males and females) were collected from the Ria de Aveiro estuary, Rio Sado estuary, and Ria Formosa lagoon, respectively, North, Center, and South Portugal. No-significant differences (P > 0.05) were observed in carapace width and individual weight between all systems. Significant differences (P < 0.05) were observed in gonad weight, gonadosomatic index, and Fulton's condition index between the Rio Sado estuary and Ria Formosa lagoon. Furthermore, significant differences (P < 0.05) in the oocyte diameter between the northern and southernmost locations suggest a geographic variation related to the local environmental conditions of each system. Principal component analysis (PCA) revealed maturity stage and carapace width an association, and a similar morphometry between Ria de Aveiro and Ria Formosa. Temperature was correlated to both maturity stage and carapace width in Ria de Aveiro and Ria Formosa. From the histological analysis and based on microscopic criteria, it was observed that females previously classified within the late macroscopic development stage 2 should be considered mature, so a classification change in the current ovary's developmental stage is proposed. These findings can allow fisheries researchers to reclassify the estimations of maturity ogives and help support the regulation of this species' fishery. The proposed macroscopic scale was validated by histological analyses and can be used elsewhere.info:eu-repo/semantics/publishedVersio

Geologia e geoquímica da mina de Mociços: Modelação 3D.

A criação de modelos Metalogénicos em 3D de jazigos minerais selecionados da Zona de Ossa Morena (ZOM) é um dos objetivos do projeto “Modelos Metalogénicos 3D da Zona de Ossa Morena: Valorização de recursos minerais do Alentejo” (ZOM3D). Este trabalho apresenta-se como uma primeira abordagem a metodologias tridimensionais para a definição de modelos metalogénicos, aplicadas ao caso de estudo da Mina de Mociços. Localizada no concelho do Alandroal, esta antiga mina de cobre situa-se no sector tectonoestratigráfico de Estremoz-Barrancos (Oliveira et al., 1991), constituído pelas seguintes unidades estratigráficas: Formação de Terena, Complexo Ígneo de Barrancos, Formação de Russianas, Formação dos Xistos Raiados, Formação dos Xistos com Nódulos, Formação de Colorada, Formação de Barrancos e Formação de Ossa, com idades que variam entre o Devónico e o Câmbrico respetivamente. Esta mina corresponde a uma ocorrência mineral de estrutura filoniana formada por quartzo e brecha quartzosa, ocorrendo óxidos e carbonatos de cobre e ferro nas zonas mais superficiais da mina de mociços. Sondagens realizadas em 1982 permitiram a identificação de sulfuretos em profundidade. Apesar da abordagem multidisciplinar do projeto ZOM 3D, neste trabalho apresentam-se apenas os resultados da cartografia geológica bem como da geoquímica de solos. O ponto de partida foram as cartas geológicas elaboradas por Oliveira & Camarinhas (1980) para o Serviço de Fomento Mineiro (SFM) que após a sua digitalização, georreferenciação e vectorização foram adaptadas e melhoradas com trabalhos de campo e com informações retiradas de Borrego (2009). Relativamente à geoquímica de solos os dados apresentados são de uma campanha de geoquímica regional realizada pelo SFM numa malha de 100 x 100 metros. Para complementar os trabalhos anteriores, no âmbito do projeto ZOM3D, foi realizada uma campanha onde foi utilizado equipamento de fluorescência de raios-X portátil (Optech Solutions Explorer 9000), com um conjunto de perfis perpendiculares à estrutura principal e com amostragem espaçada de 20 metros. Os dados foram obtidos recorrendo ao soil mode, com o tempo de análise de 100 segundos (45kV, 80μa). Nas 90 análises realizadas identificamos 15 elementos: As, Co, Cr, Cu, Fe, Hg, Mn, Ni, Pb, Sb, Sd, Se, Ti, V, Zn. A cartografia geológica, assim como as análises geoquímicas realizadas foram digitalizadas com recurso ao software QGIS e os dados geoquímicos digitalizados a partir dos mapas originais do SFM. Os dados geoquímicos do equipamento de fluorescência foram adquiridos já com as coordenadas GPS estando logo disponíveis em formato digital. Os modelos 3D foram construídos com o plugin QGIS2THREEJS que permite gerar visualizações de dados em 3D. Para a visualização das relações entre a geomorfologia, a geologia e a geoquímica selecionaramse os elementos Cu, Pb e Zn. Estes elementos apresentam valores que variam na gama 31-6772 ppm, 12-98 ppm e 2-100 ppm respetivamente. A projeção tridimensional dos valores permitiu a identificação da estrutura principal mineralizada, bem como melhor compreender a distribuição espacial e as inter-relações dos diferentes fatores presentes (geomorfologia, cartografia, estrutura, ocorrências minerais, geoquímica de solos). A criação do modelo 3D, além de confirmar a estrutura já reconhecida e explorada anteriormente (Mina de Mociços), permitiu encontrar novas regiões com valores anómalos e que deverão ser alvo de estudos mais detalhados

Exercício físico na pessoa com demência: Revisão Sistemática de Literatura

Background: Dementia is characterized by a set of disorders that involving a progressive loss of cognitive functions as well as affecting the skill necessary for the normal development of activities of daily living. Objective: Identify the benefits of physical exercise at the cognitive, sensory and motor level in the person with dementia. Method: Systematic Review of literature, started with the question: "What are the benefits of physical exercise in people with dementia?". The research was carried out using the electronic database platforms: EBSCOHost and BVS, having been identified, selected, evaluated in a methodological quality and included articles that take into account the PRISMA recommendations. Results: There were included seven studies meeting the inclusion criteria, that is, primary experimental studies, addressing the practice of physical exercise in people with dementia and Alzheimer Disease, published in the last 5 years (2014-2018), in Portuguese, English and Spanish, were included, with full text of free access. Conclusions: This Systematic Review reveals evidence of the beneficial effects of physical exercise on cognition and motor ability in people with dementia.Introducción: La demencia es caracterizada por un conjunto de trastornos que engloban una pérdida progresiva de las funciones cognitivas y afecta la destreza que es necesaria para el desarrollo normal de las actividades de vida diaria. Objectivo: Identificar los beneficios de ejercicio físico a nivel cognitivo, sensorial y motor en la persona con demencia. Método: Revisión Sistemática de la Literatura con la cuestión de la investigación "¿Cuáles son los beneficios del ejercicio físico en las personas con demencia?". La investigación fue realizada con recurso a plataformas de bases de datos electrónicas EBSCOHost y Biblioteca Virtual en Salud, habiendo sido identificados, seleccionados, evaluados en la calidad metodológica e incluidos artículos de acuerdo con las recomendaciones del PRISMA. Resultados: Se incluyeron siete estudios que cumplieron los criterios de inclusión, es decir, estudios primarios experimentales que aborden el ejercicio físico en personas con demencia, publicado en los últimos cinco años (2014-2018), en portugués, Inglés y Español, con texto integral de libre acceso. Conclusiones: Esta revisión sistemática de la literatura revela evidencia de los efectos del ejercicio sobre cognición, agitación, depresión y capacidad motora en personas con demencia.Introdução: A demência é caraterizada por um conjunto de transtornos que englobam uma perda progressiva das funções cognitivas e afeta a destreza que é necessária ao desenvolvimento normal das atividades de vida diária. Objetivo: Identificar os benefícios do exercício físico a nível cognitivo, sensorial e motor na pessoa com demência. Método: revisão sistemática da literatura com a questão de pesquisa “Quais os benefícios do exercício físico em pessoas com demência?”. A pesquisa foi realizada com recurso a plataformas de bases de dados eletrónicas EBSCOHost e Biblioteca Virtual em Saúde, tendo sido identificados, selecionados, avaliados na qualidade metodológica e incluídos artigos de acordo com as recomendações do PRISMA. Resultados: Foram incluídos 7 estudos que cumpriam os critérios de inclusão, ou seja, estudos primários experimentais, que abordam a prática de exercício físico em pessoas com demência, publicados nos últimos 5 anos (2014-2018), em português, inglês e espanhol, com texto integral de livre acesso. Conclusões: Esta revisão sistemática de literatura revela evidência dos efeitos benéficos do exercício sobre cognição, agitação, depressão e capacidade motora em pessoas com demência

CLINICAL AND MUTATIONAL ANALYSIS OF A COHORT OF PORTUGUESE PATIENTS WITH PARAGANGLIOMAS OF THE CAROTID BODY

Introduction: Representing 0.03% of all tumors, paragangliomas (PGLs) are extremely rare. During the past 15 years, there has been a significant progress in the knowledge of the genetics of PGLs. Germline mutations in succinate dehy- drogenase (SDH) genes are the commonest genetic cause of PGL. Objective: Given the high clinical relevance of the SDH status, we aimed to evaluate the diagnostic and prognostic value of SDH mutations in a Portuguese cohort with carotid body paragangliomas. We Report the experience of several departments of Angiology and Vascular Surgery in the management of carotid body tumors. Methods: Forty-six individuals were included in the present study, of which forty-two were index cases and four were familial cases. Clinical features and biochemical data were retrieved by a retrospective analysis of clinical files. DNA was isolated from peripheral blood samples obtained from all individuals following their written informed consent. For all the subjects recruited, the genetic analysis involved the mutation search on the entire coding region of the SDHD gene and was extended to the SDHB gene coding region, in a subgroup of patients with a more aggressive presentation. Results: Since 2016, genetic screening was offered to 46 patients with Carotid body PGL. The patients came from Angiology and Vascular Surgery Departments from all over the country. The genetic analysis identified seven different heterozygous mutations in the SDHD gene (p.Met1Val, p.Met1Ile, p.Gly12Ser, p.Pro53Leu, IVS3+4G>A, IVS3-2A>C, p.Leu139Phefs)In addition, one mutation in SDHB gene (p.Ser198Alafs) was present in one index case. The SDHD mutations were identified in eight of the 41 index patients (20%), and in three of the four familial cases studied (75%). Of these, one mutation, p.Met1Ile, was present in two apparently unrelated patients. The prevalence of the Familial type has varied between reported studies from as low as 5% to as high as 30%, in our study they represent 26% (12 cases) of the sample. This wide-ranging variability stems from the existence of hidden familial cases. Conclusion: Genetic screening allows the identification of familial cases and improves clinical decision-making and adequate management of patients and their relatives. The Present data contributes to a broader characterization of the molecular profile of European patients with PGL

Comparative Effectiveness of COVID-19 Vaccines in Preventing Infections and Disease Progression from SARS-CoV-2 Omicron BA.5 and BA.2, Portugal

We estimated comparative primary and booster vaccine effectiveness (VE) of SARS-CoV-2 Omicron BA.5 and BA.2 lineages against infection and disease progression. During April-June 2022, we implemented a case-case and cohort study and classified lineages using whole-genome sequencing or spike gene target failure. For the case-case study, we estimated the adjusted odds ratios (aORs) of vaccination using a logistic regression. For the cohort study, we estimated VE against disease progression using a penalized logistic regression. We observed no reduced VE for primary (aOR 1.07 [95% CI 0.93-1.23]) or booster (aOR 0.96 [95% CI 0.84-1.09]) vaccination against BA.5 infection. Among BA.5 case-patients, booster VE against progression to hospitalization was lower than that among BA.2 case-patients (VE 77% [95% CI 49%-90%] vs. VE 93% [95% CI 86%-97%]). Although booster vaccination is less effective against BA.5 than against BA.2, it offers substantial protection against progression from BA.5 infection to severe disease.The acquisition of sequencing equipment and reagents used in this study by the Instituto Nacional de Saúde Doutor Ricardo Jorge was partially funded by the HERA project (grant no. 2021/PHF/23776) supported by the European Commission through the European Centre for Disease Control, and also partially funded by the GenomePT project (grant no. POCI-01-0145-FEDER-022184), supported by COMPETE 2020–Operational Programme for Competitiveness and Internationalisation, Lisboa Portugal Regional Operational Programme, Algarve Portugal Regional Operational, under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund, and by the Portuguese Science and Technology Foundation. Algarve Biomedical Center Laboratory received public funding through the Project ALG-D2-2021-06 Variants Screen in Southern Portugal– Monitoring Variants of Concern in Southern Portugal and the Portuguese Science and Technology Foundation national support through the Comprehensive Health Research Center (grant no. UIDP/04923/2020)info:eu-repo/semantics/publishedVersio

Use of the <i>FMR1</i> Gene Methylation Status to Assess the X-Chromosome Inactivation Pattern: A Stepwise Analysis

X-chromosome inactivation (XCI) is a developmental process to compensate the imbalance in the dosage of X-chromosomal genes in females. A skewing of the XCI pattern may suggest a carrier status for an X-linked disease or explain the presence of a severe phenotype. In these cases, it is important to determine the XCI pattern, conventionally using the gold standard Human Androgen-Receptor Assay (HUMARA), based on the analysis of the methylation status at a polymorphic CAG region in the first exon of the human androgen receptor gene (AR). The aim of this study was to evaluate whether the methylation status of the fragile mental retardation protein translational regulator gene (FMR1) can provide an XCI pattern similar to that obtained by HUMARA. A set of 48 female carriers of FMR1 gene normal-sized alleles was examined using two assays: HUMARA and a FMR1 methylation PCR (mPCR). Ranges were defined to establish the XCI pattern using the methylation pattern of the FMR1 gene by mPCR. Overall, a 77% concordance of the XCI patterns was obtained between the two assays, which led us to propose a set of key points and a stepwise analysis towards obtaining an accurate result for the XCI pattern and to minimize the underlying pitfalls

An evaluation of a nurse-led rehabilitation programme (the ProBalance Programme) to improve balance and reduce fall risk of community-dwelling older people: A randomised controlled trial

This study aims to assess the effect of a nurse-led rehabilitation programme (the ProBalance Programme) on balance and fall risk of community-dwelling older people from Madeira Island, Portugal.info:eu-repo/semantics/publishedVersio