Browsing by Issue Date, starting with "2020-09-01"
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- Do Estado Vegetativo à Participação: A Amantadina Como Potenciadora do Programa de ReabilitaçãoPublication . Zão, Ana; Almeida, Ana Filipe; Beça, Gustavo; Nunes, RenatoA utilização da amantadina na prática clínica ainda parece pouco difundida, apesar da evidência crescente na emergência de alterações do estado de consciência após traumatismo cranioencefálico. Descrevemos o caso de um adolescente com traumatismo cranioencefálico grave por atropelamento. Após quatro meses de internamento num hospital central onde se manteve em estado vegetativo foi transferido para um centro de reabilitação. Iniciou um programa de reabilitação integral liderado por equipa médica, incluindo estimulação multissensorial e intervenção no meio envolvente. Iniciou amantadina, 50 mg/dia, titulada até 200 mg/dia, verificando-se melhoria clínica e funcional significativas, com emergência para estado de consciência mínima à terceira semana e recuperação da consciência à sexta semana de amantadina. Manteve melhoria progressiva mesmo após suspensão do fármaco. O caso descrito salienta a importância da intervenção holística e corrobora a literatura ao demonstrar a eficácia e segurança da amantadina na emergência do estado vegetativo
- SINAS: Effective Impact in the Quality Improvement of Ambulatory Surgery at an Ambulatory CentrePublication . Castro Alves, Eurico; Correia, Teresa; Brandão, Pedro; Teixeira, Laetitia; Povo, AnaIntroduction: The National Health Assessment System is a system designed by the Portuguese Health Regulatory Entity in order to evaluate the overall quality of the health care institutions. One of the key areas evaluated by the National Health Assessment System is ambulatory surgery. The aim of this study is to demonstrate that the introduction of the National Health Assessment System evaluation at our ambulatory centre not only improved the overall quality of ambulatory surgery but also the quality of the clinical record entries. Material and methods: A retrospective analysis was performed from the hospital's clinical database. The study was carried out at the ambulatory centre of the Hospital and University Centre of Porto, and included 100 consecutive surgical procedures, across all surgical specialties, previously selected by the National Health Assessment System audit performed in 2015 in our ambulatory surgery centre and other 46 surgical procedures performed in 2008 at our hospital, before the National Health Assessment System was implemented. The main outcome measure was the validation and record of the seven indicators of National Health Assessment System for ambulatory surgery. Results: We have seen an improvement in all indicators after the National Health Assessment System implementation, except for criterion 4. Discussion: Our study demonstrates that the introduction of the National Health Assessment System in our ambulatory centre resulted in the improvement in the quality of both of clinical practice, and clinical record keepingConclusion: We can conclude that the application of evaluation of quality indicators and benchmarking practices can be used to enhance healthcare outcomes.
- [Recommendations about Multiple Sclerosis Management during Pregnancy, Partum and Post-Partum: Consensus Position of the Portuguese Multiple Sclerosis Study Group]Publication . Batista, Sónia; Martins da Silva, Ana; Sá, Maria José; Sousa, Lívia; De Sá, João; Pedrosa, Rui; Cerqueira, João; Pinheiro, Joaquim; Abreu, Pedro; Simões, Rita Moiron; Vale, JoséMultiple sclerosis typically affects young women of reproductive age. Therefore, all healthcare professionals involved in the follow-up of multiple sclerosis patients must be prepared to discuss pregnancy and breastfeeding issues and provide the best possible counselling. However, there are still many doubts and heterogeneous clinical approaches partly due to the lack of consensus and guidelines. Concerning the handling of disease modifying therapies during pregnancy and postpartum, existing uncertainties have been complicated by the increase in the number of treatments available in recent years. This article aims to present the state-of-the-art and provide guidance based on the best level of available evidence and expert opinion regarding the management of multiple sclerosis patients at different stages: pregnancy planning, pregnancy, partum, and the postpartum period.
- Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare VariantsPublication . Encarnação, Marisa; Coutinho, Maria Francisca; Silva, Lisbeth; Ribeiro, Diogo; Ouesleti, Souad; Campos, Teresa; Santos, Helena; Martins, Esmeralda; Cardoso, Maria Teresa; Vilarinho, Laura; Alves, SandraLysosomal storage diseases (LSDs) are a heterogeneous group of genetic disorders with variable degrees of severity and a broad phenotypic spectrum, which may overlap with a number of other conditions. While individually rare, as a group LSDs affect a significant number of patients, placing an important burden on affected individuals and their families but also on national health care systems worldwide. Here, we present our results on the use of an in-house customized next-generation sequencing (NGS) panel of genes related to lysosome function as a first-line molecular test for the diagnosis of LSDs. Ultimately, our goal is to provide a fast and effective tool to screen for virtually all LSDs in a single run, thus contributing to decrease the diagnostic odyssey, accelerating the time to diagnosis. Our study enrolled a group of 23 patients with variable degrees of clinical and/or biochemical suspicion of LSD. Briefly, NGS analysis data workflow, followed by segregation analysis allowed the characterization of approximately 41% of the analyzed patients and the identification of 10 different pathogenic variants, underlying nine LSDs. Importantly, four of those variants were novel, and, when applicable, their effect over protein structure was evaluated through in silico analysis. One of the novel pathogenic variants was identified in the GM2A gene, which is associated with an ultra-rare (or misdiagnosed) LSD, the AB variant of GM2 Gangliosidosis. Overall, this case series highlights not only the major advantages of NGS-based diagnostic approaches but also, to some extent, its limitations ultimately promoting a reflection on the role of targeted panels as a primary tool for the prompt characterization of LSD patients.
- Why Should SARS-CoV-2 Post-Pandemic Recovery Funding Be Used to Foster a Physician-Scientist Program?Publication . Barbosa-Breda, João; Leal, Inês; Sousa, David Cordeiro; Soares, Celia A